U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 630

1.

rs1490256304 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    12:48141321 (GRCh38)
    12:48535104 (GRCh37)
    Canonical SPDI:
    NC_000012.12:48141320:C:A
    Gene:
    PFKM (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.48141321C>A, NC_000012.11:g.48535104C>A, NG_016199.2:g.41069C>A, NM_000289.6:c.1352C>A, NM_000289.5:c.1352C>A, NR_148957.2:n.1810C>A, NR_148957.1:n.1944C>A, NM_001166686.2:c.1565C>A, NM_001166686.1:c.1565C>A, NM_001354743.2:c.1352C>A, NM_001354743.1:c.1352C>A, NR_148954.2:n.1655C>A, NR_148954.1:n.1789C>A, NM_001354745.2:c.1265C>A, NM_001354745.1:c.1265C>A, NR_148956.2:n.1581C>A, NR_148956.1:n.1715C>A, NR_148958.2:n.1558C>A, NR_148958.1:n.1692C>A, NM_001354741.2:c.1376C>A, NM_001354741.1:c.1376C>A, NR_148959.2:n.1484C>A, NR_148959.1:n.1618C>A, NM_001166688.2:c.1352C>A, NM_001166688.1:c.1352C>A, NM_001354744.2:c.1352C>A, NM_001354744.1:c.1352C>A, NM_001354742.2:c.1352C>A, NM_001354742.1:c.1352C>A, NM_001166687.2:c.1352C>A, NM_001166687.1:c.1352C>A, NM_001354747.2:c.1202C>A, NM_001354747.1:c.1202C>A, NM_001354748.2:c.1202C>A, NM_001354748.1:c.1202C>A, NM_001363619.2:c.1259C>A, NM_001363619.1:c.1259C>A, NM_001354746.2:c.1226C>A, NM_001354746.1:c.1226C>A, NR_148955.1:n.2425C>A, NM_001354736.1:c.1661C>A, NM_001354735.1:c.1661C>A, NM_001354737.1:c.1565C>A, NM_001354739.1:c.1565C>A, NM_001354738.1:c.1565C>A, NM_001354740.1:c.1496C>A, XM_005268976.4:c.1661C>A, XM_005268976.3:c.1661C>A, XM_005268976.2:c.1661C>A, XM_005268976.1:c.1661C>A, XM_011538487.2:c.1778C>A, XM_011538487.1:c.1568C>A, XM_005268974.2:c.1661C>A, XM_005268974.1:c.1661C>A, XM_024449020.2:c.1574C>A, XM_024449020.1:c.1574C>A, XM_017019469.2:c.1472C>A, XM_017019469.1:c.1472C>A, XM_024449021.2:c.1451C>A, XM_024449021.1:c.1451C>A, XM_024449022.2:c.1352C>A, XM_024449022.1:c.1352C>A, XM_047428999.1:c.1871C>A, XM_047429000.1:c.1775C>A, XM_047429001.1:c.1670C>A, XM_047429002.1:c.1481C>A, XM_047429003.1:c.1403C>A, XM_047429004.1:c.1358C>A, NP_000280.1:p.Ala451Asp, NP_001160158.1:p.Ala522Asp, NP_001341672.1:p.Ala451Asp, NP_001341674.1:p.Ala422Asp, NP_001341670.1:p.Ala459Asp, NP_001160160.1:p.Ala451Asp, NP_001341673.1:p.Ala451Asp, NP_001341671.1:p.Ala451Asp, NP_001160159.1:p.Ala451Asp, NP_001341676.1:p.Ala401Asp, NP_001341677.1:p.Ala401Asp, NP_001350548.1:p.Ala420Asp, NP_001341675.1:p.Ala409Asp, NP_001341665.1:p.Ala554Asp, NP_001341664.1:p.Ala554Asp, NP_001341666.1:p.Ala522Asp, NP_001341668.1:p.Ala522Asp, NP_001341667.1:p.Ala522Asp, NP_001341669.1:p.Ala499Asp, XP_005269033.1:p.Ala554Asp, XP_011536789.2:p.Ala593Asp, XP_005269031.1:p.Ala554Asp, XP_024304788.1:p.Ala525Asp, XP_016874958.1:p.Ala491Asp, XP_024304789.1:p.Ala484Asp, XP_024304790.1:p.Ala451Asp, XP_047284955.1:p.Ala624Asp, XP_047284956.1:p.Ala592Asp, XP_047284957.1:p.Ala557Asp, XP_047284958.1:p.Ala494Asp, XP_047284959.1:p.Ala468Asp, XP_047284960.1:p.Ala453Asp

    2.

    rs1489733816 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      12:48133318 (GRCh38)
      12:48527101 (GRCh37)
      Canonical SPDI:
      NC_000012.12:48133317:A:C
      Gene:
      PFKM (Varview), MIR6505 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000028/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      NC_000012.12:g.48133318A>C, NC_000012.11:g.48527101A>C, NG_016199.2:g.33066A>C, NM_000289.6:c.431A>C, NM_000289.5:c.431A>C, NR_148957.2:n.482A>C, NR_148957.1:n.616A>C, NM_001166686.2:c.644A>C, NM_001166686.1:c.644A>C, NM_001354743.2:c.431A>C, NM_001354743.1:c.431A>C, NR_148954.2:n.482A>C, NR_148954.1:n.616A>C, NM_001354745.2:c.344A>C, NM_001354745.1:c.344A>C, NR_148956.2:n.408A>C, NR_148956.1:n.542A>C, NR_148958.2:n.482A>C, NR_148958.1:n.616A>C, NM_001354741.2:c.455A>C, NM_001354741.1:c.455A>C, NR_148959.2:n.408A>C, NR_148959.1:n.542A>C, NM_001166688.2:c.431A>C, NM_001166688.1:c.431A>C, NM_001354744.2:c.431A>C, NM_001354744.1:c.431A>C, NM_001354742.2:c.431A>C, NM_001354742.1:c.431A>C, NM_001166687.2:c.431A>C, NM_001166687.1:c.431A>C, NM_001354747.2:c.281A>C, NM_001354747.1:c.281A>C, NM_001354748.2:c.281A>C, NM_001354748.1:c.281A>C, NM_001363619.2:c.431A>C, NM_001363619.1:c.431A>C, NM_001354746.2:c.431A>C, NM_001354746.1:c.431A>C, NR_148955.1:n.1252A>C, NM_001354736.1:c.740A>C, NM_001354735.1:c.740A>C, NM_001354737.1:c.644A>C, NM_001354739.1:c.644A>C, NM_001354738.1:c.644A>C, NM_001354740.1:c.575A>C, XM_005268976.4:c.740A>C, XM_005268976.3:c.740A>C, XM_005268976.2:c.740A>C, XM_005268976.1:c.740A>C, XM_011538487.2:c.950A>C, XM_011538487.1:c.740A>C, XM_005268974.2:c.740A>C, XM_005268974.1:c.740A>C, XM_024449020.2:c.653A>C, XM_024449020.1:c.653A>C, XM_017019469.2:c.644A>C, XM_017019469.1:c.644A>C, XM_024449021.2:c.530A>C, XM_024449021.1:c.530A>C, XM_024449022.2:c.431A>C, XM_024449022.1:c.431A>C, XM_047428999.1:c.950A>C, XM_047429000.1:c.854A>C, XM_047429001.1:c.749A>C, XM_047429002.1:c.653A>C, XM_047429003.1:c.575A>C, XM_047429004.1:c.530A>C, NP_000280.1:p.Lys144Thr, NP_001160158.1:p.Lys215Thr, NP_001341672.1:p.Lys144Thr, NP_001341674.1:p.Lys115Thr, NP_001341670.1:p.Lys152Thr, NP_001160160.1:p.Lys144Thr, NP_001341673.1:p.Lys144Thr, NP_001341671.1:p.Lys144Thr, NP_001160159.1:p.Lys144Thr, NP_001341676.1:p.Lys94Thr, NP_001341677.1:p.Lys94Thr, NP_001350548.1:p.Lys144Thr, NP_001341675.1:p.Lys144Thr, NP_001341665.1:p.Lys247Thr, NP_001341664.1:p.Lys247Thr, NP_001341666.1:p.Lys215Thr, NP_001341668.1:p.Lys215Thr, NP_001341667.1:p.Lys215Thr, NP_001341669.1:p.Lys192Thr, XP_005269033.1:p.Lys247Thr, XP_011536789.2:p.Lys317Thr, XP_005269031.1:p.Lys247Thr, XP_024304788.1:p.Lys218Thr, XP_016874958.1:p.Lys215Thr, XP_024304789.1:p.Lys177Thr, XP_024304790.1:p.Lys144Thr, XP_047284955.1:p.Lys317Thr, XP_047284956.1:p.Lys285Thr, XP_047284957.1:p.Lys250Thr, XP_047284958.1:p.Lys218Thr, XP_047284959.1:p.Lys192Thr, XP_047284960.1:p.Lys177Thr

      3.

      rs1489568698 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        12:48145066 (GRCh38)
        12:48538849 (GRCh37)
        Canonical SPDI:
        NC_000012.12:48145065:C:A
        Gene:
        PFKM (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.48145066C>A, NC_000012.11:g.48538849C>A, NG_016199.2:g.44814C>A, NM_000289.6:c.2028C>A, NM_000289.5:c.2028C>A, NR_148957.2:n.2486C>A, NR_148957.1:n.2620C>A, NM_001166686.2:c.2241C>A, NM_001166686.1:c.2241C>A, NM_001354743.2:c.2028C>A, NM_001354743.1:c.2028C>A, NR_148954.2:n.2331C>A, NR_148954.1:n.2465C>A, NM_001354745.2:c.1941C>A, NM_001354745.1:c.1941C>A, NR_148956.2:n.2257C>A, NR_148956.1:n.2391C>A, NR_148958.2:n.2234C>A, NR_148958.1:n.2368C>A, NM_001354741.2:c.2052C>A, NM_001354741.1:c.2052C>A, NR_148959.2:n.2160C>A, NR_148959.1:n.2294C>A, NM_001166688.2:c.2028C>A, NM_001166688.1:c.2028C>A, NM_001354744.2:c.2028C>A, NM_001354744.1:c.2028C>A, NM_001354742.2:c.2028C>A, NM_001354742.1:c.2028C>A, NM_001166687.2:c.2028C>A, NM_001166687.1:c.2028C>A, NM_001354747.2:c.1878C>A, NM_001354747.1:c.1878C>A, NM_001354748.2:c.1878C>A, NM_001354748.1:c.1878C>A, NM_001363619.2:c.1935C>A, NM_001363619.1:c.1935C>A, NM_001354746.2:c.1902C>A, NM_001354746.1:c.1902C>A, NR_148955.1:n.3101C>A, NM_001354736.1:c.2337C>A, NM_001354735.1:c.2337C>A, NM_001354737.1:c.2241C>A, NM_001354739.1:c.2241C>A, NM_001354738.1:c.2241C>A, NM_001354740.1:c.2172C>A, XM_005268976.4:c.2337C>A, XM_005268976.3:c.2337C>A, XM_005268976.2:c.2337C>A, XM_005268976.1:c.2337C>A, XM_011538487.2:c.2454C>A, XM_011538487.1:c.2244C>A, XM_005268974.2:c.2337C>A, XM_005268974.1:c.2337C>A, XM_024449020.2:c.2250C>A, XM_024449020.1:c.2250C>A, XM_017019469.2:c.2148C>A, XM_017019469.1:c.2148C>A, XM_024449021.2:c.2127C>A, XM_024449021.1:c.2127C>A, XM_024449022.2:c.2028C>A, XM_024449022.1:c.2028C>A, XM_047428999.1:c.2547C>A, XM_047429000.1:c.2451C>A, XM_047429001.1:c.2346C>A, XM_047429002.1:c.2157C>A, XM_047429003.1:c.2079C>A, XM_047429004.1:c.2034C>A

        4.

        rs1487607332 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:48141953 (GRCh38)
          12:48535736 (GRCh37)
          Canonical SPDI:
          NC_000012.12:48141952:C:A
          Gene:
          PFKM (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.48141953C>A, NC_000012.11:g.48535736C>A, NG_016199.2:g.41701C>A, NM_000289.6:c.1540C>A, NM_000289.5:c.1540C>A, NR_148957.2:n.1998C>A, NR_148957.1:n.2132C>A, NM_001166686.2:c.1753C>A, NM_001166686.1:c.1753C>A, NM_001354743.2:c.1540C>A, NM_001354743.1:c.1540C>A, NR_148954.2:n.1843C>A, NR_148954.1:n.1977C>A, NM_001354745.2:c.1453C>A, NM_001354745.1:c.1453C>A, NR_148956.2:n.1769C>A, NR_148956.1:n.1903C>A, NR_148958.2:n.1746C>A, NR_148958.1:n.1880C>A, NM_001354741.2:c.1564C>A, NM_001354741.1:c.1564C>A, NR_148959.2:n.1672C>A, NR_148959.1:n.1806C>A, NM_001166688.2:c.1540C>A, NM_001166688.1:c.1540C>A, NM_001354744.2:c.1540C>A, NM_001354744.1:c.1540C>A, NM_001354742.2:c.1540C>A, NM_001354742.1:c.1540C>A, NM_001166687.2:c.1540C>A, NM_001166687.1:c.1540C>A, NM_001354747.2:c.1390C>A, NM_001354747.1:c.1390C>A, NM_001354748.2:c.1390C>A, NM_001354748.1:c.1390C>A, NM_001363619.2:c.1447C>A, NM_001363619.1:c.1447C>A, NM_001354746.2:c.1414C>A, NM_001354746.1:c.1414C>A, NR_148955.1:n.2613C>A, NM_001354736.1:c.1849C>A, NM_001354735.1:c.1849C>A, NM_001354737.1:c.1753C>A, NM_001354739.1:c.1753C>A, NM_001354738.1:c.1753C>A, NM_001354740.1:c.1684C>A, XM_005268976.4:c.1849C>A, XM_005268976.3:c.1849C>A, XM_005268976.2:c.1849C>A, XM_005268976.1:c.1849C>A, XM_011538487.2:c.1966C>A, XM_011538487.1:c.1756C>A, XM_005268974.2:c.1849C>A, XM_005268974.1:c.1849C>A, XM_024449020.2:c.1762C>A, XM_024449020.1:c.1762C>A, XM_017019469.2:c.1660C>A, XM_017019469.1:c.1660C>A, XM_024449021.2:c.1639C>A, XM_024449021.1:c.1639C>A, XM_024449022.2:c.1540C>A, XM_024449022.1:c.1540C>A, XM_047428999.1:c.2059C>A, XM_047429000.1:c.1963C>A, XM_047429001.1:c.1858C>A, XM_047429002.1:c.1669C>A, XM_047429003.1:c.1591C>A, XM_047429004.1:c.1546C>A, NP_000280.1:p.Gln514Lys, NP_001160158.1:p.Gln585Lys, NP_001341672.1:p.Gln514Lys, NP_001341674.1:p.Gln485Lys, NP_001341670.1:p.Gln522Lys, NP_001160160.1:p.Gln514Lys, NP_001341673.1:p.Gln514Lys, NP_001341671.1:p.Gln514Lys, NP_001160159.1:p.Gln514Lys, NP_001341676.1:p.Gln464Lys, NP_001341677.1:p.Gln464Lys, NP_001350548.1:p.Gln483Lys, NP_001341675.1:p.Gln472Lys, NP_001341665.1:p.Gln617Lys, NP_001341664.1:p.Gln617Lys, NP_001341666.1:p.Gln585Lys, NP_001341668.1:p.Gln585Lys, NP_001341667.1:p.Gln585Lys, NP_001341669.1:p.Gln562Lys, XP_005269033.1:p.Gln617Lys, XP_011536789.2:p.Gln656Lys, XP_005269031.1:p.Gln617Lys, XP_024304788.1:p.Gln588Lys, XP_016874958.1:p.Gln554Lys, XP_024304789.1:p.Gln547Lys, XP_024304790.1:p.Gln514Lys, XP_047284955.1:p.Gln687Lys, XP_047284956.1:p.Gln655Lys, XP_047284957.1:p.Gln620Lys, XP_047284958.1:p.Gln557Lys, XP_047284959.1:p.Gln531Lys, XP_047284960.1:p.Gln516Lys

          5.

          rs1484318591 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            12:48132896 (GRCh38)
            12:48526679 (GRCh37)
            Canonical SPDI:
            NC_000012.12:48132895:G:A,NC_000012.12:48132895:G:C
            Gene:
            PFKM (Varview), MIR6505 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.48132896G>A, NC_000012.12:g.48132896G>C, NC_000012.11:g.48526679G>A, NC_000012.11:g.48526679G>C, NG_016199.2:g.32644G>A, NG_016199.2:g.32644G>C, NM_000289.6:c.266G>A, NM_000289.6:c.266G>C, NM_000289.5:c.266G>A, NM_000289.5:c.266G>C, NR_148957.2:n.317G>A, NR_148957.2:n.317G>C, NR_148957.1:n.451G>A, NR_148957.1:n.451G>C, NM_001166686.2:c.479G>A, NM_001166686.2:c.479G>C, NM_001166686.1:c.479G>A, NM_001166686.1:c.479G>C, NM_001354743.2:c.266G>A, NM_001354743.2:c.266G>C, NM_001354743.1:c.266G>A, NM_001354743.1:c.266G>C, NR_148954.2:n.317G>A, NR_148954.2:n.317G>C, NR_148954.1:n.451G>A, NR_148954.1:n.451G>C, NM_001354745.2:c.179G>A, NM_001354745.2:c.179G>C, NM_001354745.1:c.179G>A, NM_001354745.1:c.179G>C, NR_148956.2:n.243G>A, NR_148956.2:n.243G>C, NR_148956.1:n.377G>A, NR_148956.1:n.377G>C, NR_148958.2:n.317G>A, NR_148958.2:n.317G>C, NR_148958.1:n.451G>A, NR_148958.1:n.451G>C, NM_001354741.2:c.290G>A, NM_001354741.2:c.290G>C, NM_001354741.1:c.290G>A, NM_001354741.1:c.290G>C, NR_148959.2:n.243G>A, NR_148959.2:n.243G>C, NR_148959.1:n.377G>A, NR_148959.1:n.377G>C, NM_001166688.2:c.266G>A, NM_001166688.2:c.266G>C, NM_001166688.1:c.266G>A, NM_001166688.1:c.266G>C, NM_001354744.2:c.266G>A, NM_001354744.2:c.266G>C, NM_001354744.1:c.266G>A, NM_001354744.1:c.266G>C, NM_001354742.2:c.266G>A, NM_001354742.2:c.266G>C, NM_001354742.1:c.266G>A, NM_001354742.1:c.266G>C, NM_001166687.2:c.266G>A, NM_001166687.2:c.266G>C, NM_001166687.1:c.266G>A, NM_001166687.1:c.266G>C, NM_001354747.2:c.116G>A, NM_001354747.2:c.116G>C, NM_001354747.1:c.116G>A, NM_001354747.1:c.116G>C, NM_001354748.2:c.116G>A, NM_001354748.2:c.116G>C, NM_001354748.1:c.116G>A, NM_001354748.1:c.116G>C, NM_001363619.2:c.266G>A, NM_001363619.2:c.266G>C, NM_001363619.1:c.266G>A, NM_001363619.1:c.266G>C, NM_001354746.2:c.266G>A, NM_001354746.2:c.266G>C, NM_001354746.1:c.266G>A, NM_001354746.1:c.266G>C, NR_148955.1:n.1087G>A, NR_148955.1:n.1087G>C, NM_001354736.1:c.575G>A, NM_001354736.1:c.575G>C, NM_001354735.1:c.575G>A, NM_001354735.1:c.575G>C, NM_001354737.1:c.479G>A, NM_001354737.1:c.479G>C, NM_001354739.1:c.479G>A, NM_001354739.1:c.479G>C, NM_001354738.1:c.479G>A, NM_001354738.1:c.479G>C, NM_001354740.1:c.410G>A, NM_001354740.1:c.410G>C, XM_005268976.4:c.575G>A, XM_005268976.4:c.575G>C, XM_005268976.3:c.575G>A, XM_005268976.3:c.575G>C, XM_005268976.2:c.575G>A, XM_005268976.2:c.575G>C, XM_005268976.1:c.575G>A, XM_005268976.1:c.575G>C, XM_011538487.2:c.785G>A, XM_011538487.2:c.785G>C, XM_011538487.1:c.575G>A, XM_011538487.1:c.575G>C, XM_005268974.2:c.575G>A, XM_005268974.2:c.575G>C, XM_005268974.1:c.575G>A, XM_005268974.1:c.575G>C, XM_024449020.2:c.488G>A, XM_024449020.2:c.488G>C, XM_024449020.1:c.488G>A, XM_024449020.1:c.488G>C, XM_017019469.2:c.479G>A, XM_017019469.2:c.479G>C, XM_017019469.1:c.479G>A, XM_017019469.1:c.479G>C, XM_024449021.2:c.365G>A, XM_024449021.2:c.365G>C, XM_024449021.1:c.365G>A, XM_024449021.1:c.365G>C, XM_024449022.2:c.266G>A, XM_024449022.2:c.266G>C, XM_024449022.1:c.266G>A, XM_024449022.1:c.266G>C, XM_047428999.1:c.785G>A, XM_047428999.1:c.785G>C, XM_047429000.1:c.689G>A, XM_047429000.1:c.689G>C, XM_047429001.1:c.584G>A, XM_047429001.1:c.584G>C, XM_047429002.1:c.488G>A, XM_047429002.1:c.488G>C, XM_047429003.1:c.410G>A, XM_047429003.1:c.410G>C, XM_047429004.1:c.365G>A, XM_047429004.1:c.365G>C, NP_000280.1:p.Cys89Tyr, NP_000280.1:p.Cys89Ser, NP_001160158.1:p.Cys160Tyr, NP_001160158.1:p.Cys160Ser, NP_001341672.1:p.Cys89Tyr, NP_001341672.1:p.Cys89Ser, NP_001341674.1:p.Cys60Tyr, NP_001341674.1:p.Cys60Ser, NP_001341670.1:p.Cys97Tyr, NP_001341670.1:p.Cys97Ser, NP_001160160.1:p.Cys89Tyr, NP_001160160.1:p.Cys89Ser, NP_001341673.1:p.Cys89Tyr, NP_001341673.1:p.Cys89Ser, NP_001341671.1:p.Cys89Tyr, NP_001341671.1:p.Cys89Ser, NP_001160159.1:p.Cys89Tyr, NP_001160159.1:p.Cys89Ser, NP_001341676.1:p.Cys39Tyr, NP_001341676.1:p.Cys39Ser, NP_001341677.1:p.Cys39Tyr, NP_001341677.1:p.Cys39Ser, NP_001350548.1:p.Cys89Tyr, NP_001350548.1:p.Cys89Ser, NP_001341675.1:p.Cys89Tyr, NP_001341675.1:p.Cys89Ser, NP_001341665.1:p.Cys192Tyr, NP_001341665.1:p.Cys192Ser, NP_001341664.1:p.Cys192Tyr, NP_001341664.1:p.Cys192Ser, NP_001341666.1:p.Cys160Tyr, NP_001341666.1:p.Cys160Ser, NP_001341668.1:p.Cys160Tyr, NP_001341668.1:p.Cys160Ser, NP_001341667.1:p.Cys160Tyr, NP_001341667.1:p.Cys160Ser, NP_001341669.1:p.Cys137Tyr, NP_001341669.1:p.Cys137Ser, XP_005269033.1:p.Cys192Tyr, XP_005269033.1:p.Cys192Ser, XP_011536789.2:p.Cys262Tyr, XP_011536789.2:p.Cys262Ser, XP_005269031.1:p.Cys192Tyr, XP_005269031.1:p.Cys192Ser, XP_024304788.1:p.Cys163Tyr, XP_024304788.1:p.Cys163Ser, XP_016874958.1:p.Cys160Tyr, XP_016874958.1:p.Cys160Ser, XP_024304789.1:p.Cys122Tyr, XP_024304789.1:p.Cys122Ser, XP_024304790.1:p.Cys89Tyr, XP_024304790.1:p.Cys89Ser, XP_047284955.1:p.Cys262Tyr, XP_047284955.1:p.Cys262Ser, XP_047284956.1:p.Cys230Tyr, XP_047284956.1:p.Cys230Ser, XP_047284957.1:p.Cys195Tyr, XP_047284957.1:p.Cys195Ser, XP_047284958.1:p.Cys163Tyr, XP_047284958.1:p.Cys163Ser, XP_047284959.1:p.Cys137Tyr, XP_047284959.1:p.Cys137Ser, XP_047284960.1:p.Cys122Tyr, XP_047284960.1:p.Cys122Ser

            6.

            rs1484313686 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              12:48141977 (GRCh38)
              12:48535760 (GRCh37)
              Canonical SPDI:
              NC_000012.12:48141976:T:G
              Gene:
              PFKM (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000011/3 (TOPMED)
              HGVS:
              NC_000012.12:g.48141977T>G, NC_000012.11:g.48535760T>G, NG_016199.2:g.41725T>G, NM_000289.6:c.1564T>G, NM_000289.5:c.1564T>G, NR_148957.2:n.2022T>G, NR_148957.1:n.2156T>G, NM_001166686.2:c.1777T>G, NM_001166686.1:c.1777T>G, NM_001354743.2:c.1564T>G, NM_001354743.1:c.1564T>G, NR_148954.2:n.1867T>G, NR_148954.1:n.2001T>G, NM_001354745.2:c.1477T>G, NM_001354745.1:c.1477T>G, NR_148956.2:n.1793T>G, NR_148956.1:n.1927T>G, NR_148958.2:n.1770T>G, NR_148958.1:n.1904T>G, NM_001354741.2:c.1588T>G, NM_001354741.1:c.1588T>G, NR_148959.2:n.1696T>G, NR_148959.1:n.1830T>G, NM_001166688.2:c.1564T>G, NM_001166688.1:c.1564T>G, NM_001354744.2:c.1564T>G, NM_001354744.1:c.1564T>G, NM_001354742.2:c.1564T>G, NM_001354742.1:c.1564T>G, NM_001166687.2:c.1564T>G, NM_001166687.1:c.1564T>G, NM_001354747.2:c.1414T>G, NM_001354747.1:c.1414T>G, NM_001354748.2:c.1414T>G, NM_001354748.1:c.1414T>G, NM_001363619.2:c.1471T>G, NM_001363619.1:c.1471T>G, NM_001354746.2:c.1438T>G, NM_001354746.1:c.1438T>G, NR_148955.1:n.2637T>G, NM_001354736.1:c.1873T>G, NM_001354735.1:c.1873T>G, NM_001354737.1:c.1777T>G, NM_001354739.1:c.1777T>G, NM_001354738.1:c.1777T>G, NM_001354740.1:c.1708T>G, XM_005268976.4:c.1873T>G, XM_005268976.3:c.1873T>G, XM_005268976.2:c.1873T>G, XM_005268976.1:c.1873T>G, XM_011538487.2:c.1990T>G, XM_011538487.1:c.1780T>G, XM_005268974.2:c.1873T>G, XM_005268974.1:c.1873T>G, XM_024449020.2:c.1786T>G, XM_024449020.1:c.1786T>G, XM_017019469.2:c.1684T>G, XM_017019469.1:c.1684T>G, XM_024449021.2:c.1663T>G, XM_024449021.1:c.1663T>G, XM_024449022.2:c.1564T>G, XM_024449022.1:c.1564T>G, XM_047428999.1:c.2083T>G, XM_047429000.1:c.1987T>G, XM_047429001.1:c.1882T>G, XM_047429002.1:c.1693T>G, XM_047429003.1:c.1615T>G, XM_047429004.1:c.1570T>G, NP_000280.1:p.Phe522Val, NP_001160158.1:p.Phe593Val, NP_001341672.1:p.Phe522Val, NP_001341674.1:p.Phe493Val, NP_001341670.1:p.Phe530Val, NP_001160160.1:p.Phe522Val, NP_001341673.1:p.Phe522Val, NP_001341671.1:p.Phe522Val, NP_001160159.1:p.Phe522Val, NP_001341676.1:p.Phe472Val, NP_001341677.1:p.Phe472Val, NP_001350548.1:p.Phe491Val, NP_001341675.1:p.Phe480Val, NP_001341665.1:p.Phe625Val, NP_001341664.1:p.Phe625Val, NP_001341666.1:p.Phe593Val, NP_001341668.1:p.Phe593Val, NP_001341667.1:p.Phe593Val, NP_001341669.1:p.Phe570Val, XP_005269033.1:p.Phe625Val, XP_011536789.2:p.Phe664Val, XP_005269031.1:p.Phe625Val, XP_024304788.1:p.Phe596Val, XP_016874958.1:p.Phe562Val, XP_024304789.1:p.Phe555Val, XP_024304790.1:p.Phe522Val, XP_047284955.1:p.Phe695Val, XP_047284956.1:p.Phe663Val, XP_047284957.1:p.Phe628Val, XP_047284958.1:p.Phe565Val, XP_047284959.1:p.Phe539Val, XP_047284960.1:p.Phe524Val

              7.

              rs1483626060 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:48133400 (GRCh38)
                12:48527183 (GRCh37)
                Canonical SPDI:
                NC_000012.12:48133399:C:T
                Gene:
                PFKM (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000111/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.48133400C>T, NC_000012.11:g.48527183C>T, NG_016199.2:g.33148C>T, NM_000289.6:c.513C>T, NM_000289.5:c.513C>T, NR_148957.2:n.564C>T, NR_148957.1:n.698C>T, NM_001166686.2:c.726C>T, NM_001166686.1:c.726C>T, NM_001354743.2:c.513C>T, NM_001354743.1:c.513C>T, NR_148954.2:n.564C>T, NR_148954.1:n.698C>T, NM_001354745.2:c.426C>T, NM_001354745.1:c.426C>T, NR_148956.2:n.490C>T, NR_148956.1:n.624C>T, NR_148958.2:n.564C>T, NR_148958.1:n.698C>T, NM_001354741.2:c.537C>T, NM_001354741.1:c.537C>T, NR_148959.2:n.490C>T, NR_148959.1:n.624C>T, NM_001166688.2:c.513C>T, NM_001166688.1:c.513C>T, NM_001354744.2:c.513C>T, NM_001354744.1:c.513C>T, NM_001354742.2:c.513C>T, NM_001354742.1:c.513C>T, NM_001166687.2:c.513C>T, NM_001166687.1:c.513C>T, NM_001354747.2:c.363C>T, NM_001354747.1:c.363C>T, NM_001354748.2:c.363C>T, NM_001354748.1:c.363C>T, NM_001363619.2:c.513C>T, NM_001363619.1:c.513C>T, NM_001354746.2:c.513C>T, NM_001354746.1:c.513C>T, NR_148955.1:n.1334C>T, NM_001354736.1:c.822C>T, NM_001354735.1:c.822C>T, NM_001354737.1:c.726C>T, NM_001354739.1:c.726C>T, NM_001354738.1:c.726C>T, NM_001354740.1:c.657C>T, XM_005268976.4:c.822C>T, XM_005268976.3:c.822C>T, XM_005268976.2:c.822C>T, XM_005268976.1:c.822C>T, XM_011538487.2:c.1032C>T, XM_011538487.1:c.822C>T, XM_005268974.2:c.822C>T, XM_005268974.1:c.822C>T, XM_024449020.2:c.735C>T, XM_024449020.1:c.735C>T, XM_017019469.2:c.726C>T, XM_017019469.1:c.726C>T, XM_024449021.2:c.612C>T, XM_024449021.1:c.612C>T, XM_024449022.2:c.513C>T, XM_024449022.1:c.513C>T, XM_047428999.1:c.1032C>T, XM_047429000.1:c.936C>T, XM_047429001.1:c.831C>T, XM_047429002.1:c.735C>T, XM_047429003.1:c.657C>T, XM_047429004.1:c.612C>T

                8.

                rs1482850430 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:48132966 (GRCh38)
                  12:48526749 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:48132965:T:C
                  Gene:
                  PFKM (Varview), MIR6505 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.48132966T>C, NC_000012.11:g.48526749T>C, NG_016199.2:g.32714T>C, NM_000289.6:c.336T>C, NM_000289.5:c.336T>C, NR_148957.2:n.387T>C, NR_148957.1:n.521T>C, NM_001166686.2:c.549T>C, NM_001166686.1:c.549T>C, NM_001354743.2:c.336T>C, NM_001354743.1:c.336T>C, NR_148954.2:n.387T>C, NR_148954.1:n.521T>C, NM_001354745.2:c.249T>C, NM_001354745.1:c.249T>C, NR_148956.2:n.313T>C, NR_148956.1:n.447T>C, NR_148958.2:n.387T>C, NR_148958.1:n.521T>C, NM_001354741.2:c.360T>C, NM_001354741.1:c.360T>C, NR_148959.2:n.313T>C, NR_148959.1:n.447T>C, NM_001166688.2:c.336T>C, NM_001166688.1:c.336T>C, NM_001354744.2:c.336T>C, NM_001354744.1:c.336T>C, NM_001354742.2:c.336T>C, NM_001354742.1:c.336T>C, NM_001166687.2:c.336T>C, NM_001166687.1:c.336T>C, NM_001354747.2:c.186T>C, NM_001354747.1:c.186T>C, NM_001354748.2:c.186T>C, NM_001354748.1:c.186T>C, NM_001363619.2:c.336T>C, NM_001363619.1:c.336T>C, NM_001354746.2:c.336T>C, NM_001354746.1:c.336T>C, NR_148955.1:n.1157T>C, NM_001354736.1:c.645T>C, NM_001354735.1:c.645T>C, NM_001354737.1:c.549T>C, NM_001354739.1:c.549T>C, NM_001354738.1:c.549T>C, NM_001354740.1:c.480T>C, XM_005268976.4:c.645T>C, XM_005268976.3:c.645T>C, XM_005268976.2:c.645T>C, XM_005268976.1:c.645T>C, XM_011538487.2:c.855T>C, XM_011538487.1:c.645T>C, XM_005268974.2:c.645T>C, XM_005268974.1:c.645T>C, XM_024449020.2:c.558T>C, XM_024449020.1:c.558T>C, XM_017019469.2:c.549T>C, XM_017019469.1:c.549T>C, XM_024449021.2:c.435T>C, XM_024449021.1:c.435T>C, XM_024449022.2:c.336T>C, XM_024449022.1:c.336T>C, XM_047428999.1:c.855T>C, XM_047429000.1:c.759T>C, XM_047429001.1:c.654T>C, XM_047429002.1:c.558T>C, XM_047429003.1:c.480T>C, XM_047429004.1:c.435T>C

                  9.

                  rs1481691825 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:48122843 (GRCh38)
                    12:48516626 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:48122842:T:C
                    Gene:
                    PFKM (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_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_000012.12:g.48122843T>C, NC_000012.11:g.48516626T>C, NG_016199.2:g.22591T>C, NM_000289.6:c.69T>C, NM_000289.5:c.69T>C, NR_148957.2:n.120T>C, NR_148957.1:n.254T>C, NM_001166686.2:c.282T>C, NM_001166686.1:c.282T>C, NM_001354743.2:c.69T>C, NM_001354743.1:c.69T>C, NR_148954.2:n.120T>C, NR_148954.1:n.254T>C, NM_001354745.2:c.-257T>C, NM_001354745.1:c.-257T>C, NR_148956.2:n.120T>C, NR_148956.1:n.254T>C, NR_148958.2:n.120T>C, NR_148958.1:n.254T>C, NM_001354741.2:c.93T>C, NM_001354741.1:c.93T>C, NR_148959.2:n.120T>C, NR_148959.1:n.254T>C, NM_001166688.2:c.69T>C, NM_001166688.1:c.69T>C, NM_001354744.2:c.69T>C, NM_001354744.1:c.69T>C, NM_001354742.2:c.69T>C, NM_001354742.1:c.69T>C, NM_001166687.2:c.69T>C, NM_001166687.1:c.69T>C, NM_001354747.2:c.-8T>C, NM_001354747.1:c.-8T>C, NM_001354748.2:c.-8T>C, NM_001354748.1:c.-8T>C, NM_001363619.2:c.69T>C, NM_001363619.1:c.69T>C, NM_001354746.2:c.69T>C, NM_001354746.1:c.69T>C, NR_148955.1:n.652T>C, NM_001354736.1:c.378T>C, NM_001354735.1:c.378T>C, NM_001354737.1:c.282T>C, NM_001354739.1:c.282T>C, NM_001354738.1:c.282T>C, NM_001354740.1:c.213T>C, XM_005268976.4:c.378T>C, XM_005268976.3:c.378T>C, XM_005268976.2:c.378T>C, XM_005268976.1:c.378T>C, XM_011538487.2:c.588T>C, XM_011538487.1:c.378T>C, XM_005268974.2:c.378T>C, XM_005268974.1:c.378T>C, XM_024449020.2:c.291T>C, XM_024449020.1:c.291T>C, XM_017019469.2:c.282T>C, XM_017019469.1:c.282T>C, XM_024449021.2:c.168T>C, XM_024449021.1:c.168T>C, XM_024449022.2:c.69T>C, XM_024449022.1:c.69T>C, XM_047428999.1:c.588T>C, XM_047429000.1:c.492T>C, XM_047429001.1:c.387T>C, XM_047429002.1:c.291T>C, XM_047429003.1:c.213T>C, XM_047429004.1:c.168T>C

                    10.

                    rs1480383508 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      12:48135032 (GRCh38)
                      12:48528815 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:48135031:C:G,NC_000012.12:48135031:C:T
                      Gene:
                      PFKM (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000012.12:g.48135032C>G, NC_000012.12:g.48135032C>T, NC_000012.11:g.48528815C>G, NC_000012.11:g.48528815C>T, NG_016199.2:g.34780C>G, NG_016199.2:g.34780C>T, NM_000289.6:c.837C>G, NM_000289.6:c.837C>T, NM_000289.5:c.837C>G, NM_000289.5:c.837C>T, NR_148957.2:n.888C>G, NR_148957.2:n.888C>T, NR_148957.1:n.1022C>G, NR_148957.1:n.1022C>T, NM_001166686.2:c.1050C>G, NM_001166686.2:c.1050C>T, NM_001166686.1:c.1050C>G, NM_001166686.1:c.1050C>T, NM_001354743.2:c.837C>G, NM_001354743.2:c.837C>T, NM_001354743.1:c.837C>G, NM_001354743.1:c.837C>T, NR_148954.2:n.888C>G, NR_148954.2:n.888C>T, NR_148954.1:n.1022C>G, NR_148954.1:n.1022C>T, NM_001354745.2:c.750C>G, NM_001354745.2:c.750C>T, NM_001354745.1:c.750C>G, NM_001354745.1:c.750C>T, NR_148956.2:n.814C>G, NR_148956.2:n.814C>T, NR_148956.1:n.948C>G, NR_148956.1:n.948C>T, NR_148958.2:n.888C>G, NR_148958.2:n.888C>T, NR_148958.1:n.1022C>G, NR_148958.1:n.1022C>T, NM_001354741.2:c.861C>G, NM_001354741.2:c.861C>T, NM_001354741.1:c.861C>G, NM_001354741.1:c.861C>T, NR_148959.2:n.814C>G, NR_148959.2:n.814C>T, NR_148959.1:n.948C>G, NR_148959.1:n.948C>T, NM_001166688.2:c.837C>G, NM_001166688.2:c.837C>T, NM_001166688.1:c.837C>G, NM_001166688.1:c.837C>T, NM_001354744.2:c.837C>G, NM_001354744.2:c.837C>T, NM_001354744.1:c.837C>G, NM_001354744.1:c.837C>T, NM_001354742.2:c.837C>G, NM_001354742.2:c.837C>T, NM_001354742.1:c.837C>G, NM_001354742.1:c.837C>T, NM_001166687.2:c.837C>G, NM_001166687.2:c.837C>T, NM_001166687.1:c.837C>G, NM_001166687.1:c.837C>T, NM_001354747.2:c.687C>G, NM_001354747.2:c.687C>T, NM_001354747.1:c.687C>G, NM_001354747.1:c.687C>T, NM_001354748.2:c.687C>G, NM_001354748.2:c.687C>T, NM_001354748.1:c.687C>G, NM_001354748.1:c.687C>T, NM_001363619.2:c.837C>G, NM_001363619.2:c.837C>T, NM_001363619.1:c.837C>G, NM_001363619.1:c.837C>T, NM_001354746.2:c.837C>G, NM_001354746.2:c.837C>T, NM_001354746.1:c.837C>G, NM_001354746.1:c.837C>T, NR_148955.1:n.1658C>G, NR_148955.1:n.1658C>T, NM_001354736.1:c.1146C>G, NM_001354736.1:c.1146C>T, NM_001354735.1:c.1146C>G, NM_001354735.1:c.1146C>T, NM_001354737.1:c.1050C>G, NM_001354737.1:c.1050C>T, NM_001354739.1:c.1050C>G, NM_001354739.1:c.1050C>T, NM_001354738.1:c.1050C>G, NM_001354738.1:c.1050C>T, NM_001354740.1:c.981C>G, NM_001354740.1:c.981C>T, XM_005268976.4:c.1146C>G, XM_005268976.4:c.1146C>T, XM_005268976.3:c.1146C>G, XM_005268976.3:c.1146C>T, XM_005268976.2:c.1146C>G, XM_005268976.2:c.1146C>T, XM_005268976.1:c.1146C>G, XM_005268976.1:c.1146C>T, XM_011538487.2:c.1356C>G, XM_011538487.2:c.1356C>T, XM_011538487.1:c.1146C>G, XM_011538487.1:c.1146C>T, XM_005268974.2:c.1146C>G, XM_005268974.2:c.1146C>T, XM_005268974.1:c.1146C>G, XM_005268974.1:c.1146C>T, XM_024449020.2:c.1059C>G, XM_024449020.2:c.1059C>T, XM_024449020.1:c.1059C>G, XM_024449020.1:c.1059C>T, XM_017019469.2:c.1050C>G, XM_017019469.2:c.1050C>T, XM_017019469.1:c.1050C>G, XM_017019469.1:c.1050C>T, XM_024449021.2:c.936C>G, XM_024449021.2:c.936C>T, XM_024449021.1:c.936C>G, XM_024449021.1:c.936C>T, XM_024449022.2:c.837C>G, XM_024449022.2:c.837C>T, XM_024449022.1:c.837C>G, XM_024449022.1:c.837C>T, XM_047428999.1:c.1356C>G, XM_047428999.1:c.1356C>T, XM_047429000.1:c.1260C>G, XM_047429000.1:c.1260C>T, XM_047429001.1:c.1155C>G, XM_047429001.1:c.1155C>T, XM_047429002.1:c.1059C>G, XM_047429002.1:c.1059C>T, XM_047429003.1:c.981C>G, XM_047429003.1:c.981C>T, XM_047429004.1:c.936C>G, XM_047429004.1:c.936C>T, NP_000280.1:p.Ile279Met, NP_001160158.1:p.Ile350Met, NP_001341672.1:p.Ile279Met, NP_001341674.1:p.Ile250Met, NP_001341670.1:p.Ile287Met, NP_001160160.1:p.Ile279Met, NP_001341673.1:p.Ile279Met, NP_001341671.1:p.Ile279Met, NP_001160159.1:p.Ile279Met, NP_001341676.1:p.Ile229Met, NP_001341677.1:p.Ile229Met, NP_001350548.1:p.Ile279Met, NP_001341675.1:p.Ile279Met, NP_001341665.1:p.Ile382Met, NP_001341664.1:p.Ile382Met, NP_001341666.1:p.Ile350Met, NP_001341668.1:p.Ile350Met, NP_001341667.1:p.Ile350Met, NP_001341669.1:p.Ile327Met, XP_005269033.1:p.Ile382Met, XP_011536789.2:p.Ile452Met, XP_005269031.1:p.Ile382Met, XP_024304788.1:p.Ile353Met, XP_016874958.1:p.Ile350Met, XP_024304789.1:p.Ile312Met, XP_024304790.1:p.Ile279Met, XP_047284955.1:p.Ile452Met, XP_047284956.1:p.Ile420Met, XP_047284957.1:p.Ile385Met, XP_047284958.1:p.Ile353Met, XP_047284959.1:p.Ile327Met, XP_047284960.1:p.Ile312Met

                      11.

                      rs1479575063 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:48132906 (GRCh38)
                        12:48526689 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:48132905:T:C
                        Gene:
                        PFKM (Varview), MIR6505 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000011/3 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000012.12:g.48132906T>C, NC_000012.11:g.48526689T>C, NG_016199.2:g.32654T>C, NM_000289.6:c.276T>C, NM_000289.5:c.276T>C, NR_148957.2:n.327T>C, NR_148957.1:n.461T>C, NM_001166686.2:c.489T>C, NM_001166686.1:c.489T>C, NM_001354743.2:c.276T>C, NM_001354743.1:c.276T>C, NR_148954.2:n.327T>C, NR_148954.1:n.461T>C, NM_001354745.2:c.189T>C, NM_001354745.1:c.189T>C, NR_148956.2:n.253T>C, NR_148956.1:n.387T>C, NR_148958.2:n.327T>C, NR_148958.1:n.461T>C, NM_001354741.2:c.300T>C, NM_001354741.1:c.300T>C, NR_148959.2:n.253T>C, NR_148959.1:n.387T>C, NM_001166688.2:c.276T>C, NM_001166688.1:c.276T>C, NM_001354744.2:c.276T>C, NM_001354744.1:c.276T>C, NM_001354742.2:c.276T>C, NM_001354742.1:c.276T>C, NM_001166687.2:c.276T>C, NM_001166687.1:c.276T>C, NM_001354747.2:c.126T>C, NM_001354747.1:c.126T>C, NM_001354748.2:c.126T>C, NM_001354748.1:c.126T>C, NM_001363619.2:c.276T>C, NM_001363619.1:c.276T>C, NM_001354746.2:c.276T>C, NM_001354746.1:c.276T>C, NR_148955.1:n.1097T>C, NM_001354736.1:c.585T>C, NM_001354735.1:c.585T>C, NM_001354737.1:c.489T>C, NM_001354739.1:c.489T>C, NM_001354738.1:c.489T>C, NM_001354740.1:c.420T>C, XM_005268976.4:c.585T>C, XM_005268976.3:c.585T>C, XM_005268976.2:c.585T>C, XM_005268976.1:c.585T>C, XM_011538487.2:c.795T>C, XM_011538487.1:c.585T>C, XM_005268974.2:c.585T>C, XM_005268974.1:c.585T>C, XM_024449020.2:c.498T>C, XM_024449020.1:c.498T>C, XM_017019469.2:c.489T>C, XM_017019469.1:c.489T>C, XM_024449021.2:c.375T>C, XM_024449021.1:c.375T>C, XM_024449022.2:c.276T>C, XM_024449022.1:c.276T>C, XM_047428999.1:c.795T>C, XM_047429000.1:c.699T>C, XM_047429001.1:c.594T>C, XM_047429002.1:c.498T>C, XM_047429003.1:c.420T>C, XM_047429004.1:c.375T>C

                        12.

                        rs1479230917 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:48142895 (GRCh38)
                          12:48536678 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:48142894:G:A
                          Gene:
                          PFKM (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000012.12:g.48142895G>A, NC_000012.11:g.48536678G>A, NG_016199.2:g.42643G>A, NM_000289.6:c.1767G>A, NM_000289.5:c.1767G>A, NR_148957.2:n.2225G>A, NR_148957.1:n.2359G>A, NM_001166686.2:c.1980G>A, NM_001166686.1:c.1980G>A, NM_001354743.2:c.1767G>A, NM_001354743.1:c.1767G>A, NR_148954.2:n.2070G>A, NR_148954.1:n.2204G>A, NM_001354745.2:c.1680G>A, NM_001354745.1:c.1680G>A, NR_148956.2:n.1996G>A, NR_148956.1:n.2130G>A, NR_148958.2:n.1973G>A, NR_148958.1:n.2107G>A, NM_001354741.2:c.1791G>A, NM_001354741.1:c.1791G>A, NR_148959.2:n.1899G>A, NR_148959.1:n.2033G>A, NM_001166688.2:c.1767G>A, NM_001166688.1:c.1767G>A, NM_001354744.2:c.1767G>A, NM_001354744.1:c.1767G>A, NM_001354742.2:c.1767G>A, NM_001354742.1:c.1767G>A, NM_001166687.2:c.1767G>A, NM_001166687.1:c.1767G>A, NM_001354747.2:c.1617G>A, NM_001354747.1:c.1617G>A, NM_001354748.2:c.1617G>A, NM_001354748.1:c.1617G>A, NM_001363619.2:c.1674G>A, NM_001363619.1:c.1674G>A, NM_001354746.2:c.1641G>A, NM_001354746.1:c.1641G>A, NR_148955.1:n.2840G>A, NM_001354736.1:c.2076G>A, NM_001354735.1:c.2076G>A, NM_001354737.1:c.1980G>A, NM_001354739.1:c.1980G>A, NM_001354738.1:c.1980G>A, NM_001354740.1:c.1911G>A, XM_005268976.4:c.2076G>A, XM_005268976.3:c.2076G>A, XM_005268976.2:c.2076G>A, XM_005268976.1:c.2076G>A, XM_011538487.2:c.2193G>A, XM_011538487.1:c.1983G>A, XM_005268974.2:c.2076G>A, XM_005268974.1:c.2076G>A, XM_024449020.2:c.1989G>A, XM_024449020.1:c.1989G>A, XM_017019469.2:c.1887G>A, XM_017019469.1:c.1887G>A, XM_024449021.2:c.1866G>A, XM_024449021.1:c.1866G>A, XM_024449022.2:c.1767G>A, XM_024449022.1:c.1767G>A, XM_047428999.1:c.2286G>A, XM_047429000.1:c.2190G>A, XM_047429001.1:c.2085G>A, XM_047429002.1:c.1896G>A, XM_047429003.1:c.1818G>A, XM_047429004.1:c.1773G>A

                          13.

                          rs1465903513 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            12:48145253 (GRCh38)
                            12:48539036 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:48145252:G:T
                            Gene:
                            PFKM (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000012.12:g.48145253G>T, NC_000012.11:g.48539036G>T, NG_016199.2:g.45001G>T, NM_000289.6:c.2136G>T, NM_000289.5:c.2136G>T, NR_148957.2:n.2594G>T, NR_148957.1:n.2728G>T, NM_001166686.2:c.2349G>T, NM_001166686.1:c.2349G>T, NM_001354743.2:c.2136G>T, NM_001354743.1:c.2136G>T, NR_148954.2:n.2439G>T, NR_148954.1:n.2573G>T, NM_001354745.2:c.2049G>T, NM_001354745.1:c.2049G>T, NR_148956.2:n.2365G>T, NR_148956.1:n.2499G>T, NR_148958.2:n.2342G>T, NR_148958.1:n.2476G>T, NM_001354741.2:c.2160G>T, NM_001354741.1:c.2160G>T, NR_148959.2:n.2268G>T, NR_148959.1:n.2402G>T, NM_001166688.2:c.2136G>T, NM_001166688.1:c.2136G>T, NM_001354744.2:c.2136G>T, NM_001354744.1:c.2136G>T, NM_001354742.2:c.2136G>T, NM_001354742.1:c.2136G>T, NM_001166687.2:c.2136G>T, NM_001166687.1:c.2136G>T, NM_001354747.2:c.1986G>T, NM_001354747.1:c.1986G>T, NM_001354748.2:c.1986G>T, NM_001354748.1:c.1986G>T, NM_001363619.2:c.2043G>T, NM_001363619.1:c.2043G>T, NM_001354746.2:c.2010G>T, NM_001354746.1:c.2010G>T, NR_148955.1:n.3209G>T, NM_001354736.1:c.2445G>T, NM_001354735.1:c.2445G>T, NM_001354737.1:c.2349G>T, NM_001354739.1:c.2349G>T, NM_001354738.1:c.2349G>T, NM_001354740.1:c.2280G>T, XM_005268976.4:c.2445G>T, XM_005268976.3:c.2445G>T, XM_005268976.2:c.2445G>T, XM_005268976.1:c.2445G>T, XM_011538487.2:c.2562G>T, XM_011538487.1:c.2352G>T, XM_005268974.2:c.2445G>T, XM_005268974.1:c.2445G>T, XM_024449020.2:c.2358G>T, XM_024449020.1:c.2358G>T, XM_017019469.2:c.2256G>T, XM_017019469.1:c.2256G>T, XM_024449021.2:c.2235G>T, XM_024449021.1:c.2235G>T, XM_024449022.2:c.2136G>T, XM_024449022.1:c.2136G>T, XM_047428999.1:c.2655G>T, XM_047429000.1:c.2559G>T, XM_047429001.1:c.2454G>T, XM_047429002.1:c.2265G>T, XM_047429003.1:c.2187G>T, XM_047429004.1:c.2142G>T

                            14.

                            rs1465810365 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              12:48122773 (GRCh38)
                              12:48516556 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:48122772:T:A
                              Gene:
                              PFKM (Varview)
                              Functional Consequence:
                              coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000012.12:g.48122773T>A, NC_000012.11:g.48516556T>A, NG_016199.2:g.22521T>A, NM_000289.6:c.-2T>A, NM_000289.5:c.-2T>A, NR_148957.2:n.50T>A, NR_148957.1:n.184T>A, NM_001166686.2:c.212T>A, NM_001166686.1:c.212T>A, NM_001354743.2:c.-2T>A, NM_001354743.1:c.-2T>A, NR_148954.2:n.50T>A, NR_148954.1:n.184T>A, NM_001354745.2:c.-327T>A, NM_001354745.1:c.-327T>A, NR_148956.2:n.50T>A, NR_148956.1:n.184T>A, NR_148958.2:n.50T>A, NR_148958.1:n.184T>A, NM_001354741.2:c.23T>A, NM_001354741.1:c.23T>A, NR_148959.2:n.50T>A, NR_148959.1:n.184T>A, NM_001166688.2:c.-2T>A, NM_001166688.1:c.-2T>A, NM_001354744.2:c.-2T>A, NM_001354744.1:c.-2T>A, NM_001354742.2:c.-2T>A, NM_001354742.1:c.-2T>A, NM_001166687.2:c.-2T>A, NM_001166687.1:c.-2T>A, NM_001354747.2:c.-78T>A, NM_001354747.1:c.-78T>A, NM_001354748.2:c.-78T>A, NM_001354748.1:c.-78T>A, NM_001363619.2:c.-2T>A, NM_001363619.1:c.-2T>A, NM_001354746.2:c.-2T>A, NM_001354746.1:c.-2T>A, NR_148955.1:n.582T>A, NM_001354736.1:c.308T>A, NM_001354735.1:c.308T>A, NM_001354737.1:c.212T>A, NM_001354739.1:c.212T>A, NM_001354738.1:c.212T>A, NM_001354740.1:c.143T>A, XM_005268976.4:c.308T>A, XM_005268976.3:c.308T>A, XM_005268976.2:c.308T>A, XM_005268976.1:c.308T>A, XM_011538487.2:c.518T>A, XM_011538487.1:c.308T>A, XM_005268974.2:c.308T>A, XM_005268974.1:c.308T>A, XM_024449020.2:c.221T>A, XM_024449020.1:c.221T>A, XM_017019469.2:c.212T>A, XM_017019469.1:c.212T>A, XM_024449021.2:c.98T>A, XM_024449021.1:c.98T>A, XM_024449022.2:c.-2T>A, XM_024449022.1:c.-2T>A, XM_047428999.1:c.518T>A, XM_047429000.1:c.422T>A, XM_047429001.1:c.317T>A, XM_047429002.1:c.221T>A, XM_047429003.1:c.143T>A, XM_047429004.1:c.98T>A, NP_001160158.1:p.Ile71Asn, NP_001341670.1:p.Ile8Asn, NP_001341665.1:p.Ile103Asn, NP_001341664.1:p.Ile103Asn, NP_001341666.1:p.Ile71Asn, NP_001341668.1:p.Ile71Asn, NP_001341667.1:p.Ile71Asn, NP_001341669.1:p.Ile48Asn, XP_005269033.1:p.Ile103Asn, XP_011536789.2:p.Ile173Asn, XP_005269031.1:p.Ile103Asn, XP_024304788.1:p.Ile74Asn, XP_016874958.1:p.Ile71Asn, XP_024304789.1:p.Ile33Asn, XP_047284955.1:p.Ile173Asn, XP_047284956.1:p.Ile141Asn, XP_047284957.1:p.Ile106Asn, XP_047284958.1:p.Ile74Asn, XP_047284959.1:p.Ile48Asn, XP_047284960.1:p.Ile33Asn

                              15.

                              rs1463314665 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:48133051 (GRCh38)
                                12:48526834 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:48133050:A:G
                                Gene:
                                PFKM (Varview), MIR6505 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.48133051A>G, NC_000012.11:g.48526834A>G, NG_016199.2:g.32799A>G, NM_000289.6:c.421A>G, NM_000289.5:c.421A>G, NR_148957.2:n.472A>G, NR_148957.1:n.606A>G, NM_001166686.2:c.634A>G, NM_001166686.1:c.634A>G, NM_001354743.2:c.421A>G, NM_001354743.1:c.421A>G, NR_148954.2:n.472A>G, NR_148954.1:n.606A>G, NM_001354745.2:c.334A>G, NM_001354745.1:c.334A>G, NR_148956.2:n.398A>G, NR_148956.1:n.532A>G, NR_148958.2:n.472A>G, NR_148958.1:n.606A>G, NM_001354741.2:c.445A>G, NM_001354741.1:c.445A>G, NR_148959.2:n.398A>G, NR_148959.1:n.532A>G, NM_001166688.2:c.421A>G, NM_001166688.1:c.421A>G, NM_001354744.2:c.421A>G, NM_001354744.1:c.421A>G, NM_001354742.2:c.421A>G, NM_001354742.1:c.421A>G, NM_001166687.2:c.421A>G, NM_001166687.1:c.421A>G, NM_001354747.2:c.271A>G, NM_001354747.1:c.271A>G, NM_001354748.2:c.271A>G, NM_001354748.1:c.271A>G, NM_001363619.2:c.421A>G, NM_001363619.1:c.421A>G, NM_001354746.2:c.421A>G, NM_001354746.1:c.421A>G, NR_148955.1:n.1242A>G, NM_001354736.1:c.730A>G, NM_001354735.1:c.730A>G, NM_001354737.1:c.634A>G, NM_001354739.1:c.634A>G, NM_001354738.1:c.634A>G, NM_001354740.1:c.565A>G, XM_005268976.4:c.730A>G, XM_005268976.3:c.730A>G, XM_005268976.2:c.730A>G, XM_005268976.1:c.730A>G, XM_011538487.2:c.940A>G, XM_011538487.1:c.730A>G, XM_005268974.2:c.730A>G, XM_005268974.1:c.730A>G, XM_024449020.2:c.643A>G, XM_024449020.1:c.643A>G, XM_017019469.2:c.634A>G, XM_017019469.1:c.634A>G, XM_024449021.2:c.520A>G, XM_024449021.1:c.520A>G, XM_024449022.2:c.421A>G, XM_024449022.1:c.421A>G, XM_047428999.1:c.940A>G, XM_047429000.1:c.844A>G, XM_047429001.1:c.739A>G, XM_047429002.1:c.643A>G, XM_047429003.1:c.565A>G, XM_047429004.1:c.520A>G, NP_000280.1:p.Lys141Glu, NP_001160158.1:p.Lys212Glu, NP_001341672.1:p.Lys141Glu, NP_001341674.1:p.Lys112Glu, NP_001341670.1:p.Lys149Glu, NP_001160160.1:p.Lys141Glu, NP_001341673.1:p.Lys141Glu, NP_001341671.1:p.Lys141Glu, NP_001160159.1:p.Lys141Glu, NP_001341676.1:p.Lys91Glu, NP_001341677.1:p.Lys91Glu, NP_001350548.1:p.Lys141Glu, NP_001341675.1:p.Lys141Glu, NP_001341665.1:p.Lys244Glu, NP_001341664.1:p.Lys244Glu, NP_001341666.1:p.Lys212Glu, NP_001341668.1:p.Lys212Glu, NP_001341667.1:p.Lys212Glu, NP_001341669.1:p.Lys189Glu, XP_005269033.1:p.Lys244Glu, XP_011536789.2:p.Lys314Glu, XP_005269031.1:p.Lys244Glu, XP_024304788.1:p.Lys215Glu, XP_016874958.1:p.Lys212Glu, XP_024304789.1:p.Lys174Glu, XP_024304790.1:p.Lys141Glu, XP_047284955.1:p.Lys314Glu, XP_047284956.1:p.Lys282Glu, XP_047284957.1:p.Lys247Glu, XP_047284958.1:p.Lys215Glu, XP_047284959.1:p.Lys189Glu, XP_047284960.1:p.Lys174Glu

                                16.

                                rs1462760825 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  12:48135344 (GRCh38)
                                  12:48529127 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:48135343:G:C
                                  Gene:
                                  PFKM (Varview)
                                  Functional Consequence:
                                  intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.48135344G>C, NC_000012.11:g.48529127G>C, NG_016199.2:g.35092G>C, NM_000289.6:c.897G>C, NM_000289.5:c.897G>C, NR_148957.2:n.1200G>C, NR_148957.1:n.1334G>C, NM_001166686.2:c.1110G>C, NM_001166686.1:c.1110G>C, NM_001354743.2:c.897G>C, NM_001354743.1:c.897G>C, NR_148954.2:n.1200G>C, NR_148954.1:n.1334G>C, NM_001354745.2:c.810G>C, NM_001354745.1:c.810G>C, NR_148956.2:n.1126G>C, NR_148956.1:n.1260G>C, NR_148958.2:n.948G>C, NR_148958.1:n.1082G>C, NM_001354741.2:c.921G>C, NM_001354741.1:c.921G>C, NR_148959.2:n.874G>C, NR_148959.1:n.1008G>C, NM_001166688.2:c.897G>C, NM_001166688.1:c.897G>C, NM_001354744.2:c.897G>C, NM_001354744.1:c.897G>C, NM_001354742.2:c.897G>C, NM_001354742.1:c.897G>C, NM_001166687.2:c.897G>C, NM_001166687.1:c.897G>C, NM_001354747.2:c.747G>C, NM_001354747.1:c.747G>C, NM_001354748.2:c.747G>C, NM_001354748.1:c.747G>C, NM_001354746.2:c.897G>C, NM_001354746.1:c.897G>C, NR_148955.1:n.1970G>C, NM_001354736.1:c.1206G>C, NM_001354735.1:c.1206G>C, NM_001354737.1:c.1110G>C, NM_001354739.1:c.1110G>C, NM_001354738.1:c.1110G>C, NM_001354740.1:c.1041G>C, XM_005268976.4:c.1206G>C, XM_005268976.3:c.1206G>C, XM_005268976.2:c.1206G>C, XM_005268976.1:c.1206G>C, XM_005268974.2:c.1206G>C, XM_005268974.1:c.1206G>C, XM_024449020.2:c.1119G>C, XM_024449020.1:c.1119G>C, XM_024449021.2:c.996G>C, XM_024449021.1:c.996G>C, XM_024449022.2:c.897G>C, XM_024449022.1:c.897G>C, XM_047428999.1:c.1416G>C, XM_047429000.1:c.1320G>C, XM_047429001.1:c.1215G>C

                                  17.

                                  rs1459552039 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    12:48133435 (GRCh38)
                                    12:48527218 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:48133434:A:G,NC_000012.12:48133434:A:T
                                    Gene:
                                    PFKM (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    T=0.000142/2 (TOMMO)
                                    HGVS:
                                    NC_000012.12:g.48133435A>G, NC_000012.12:g.48133435A>T, NC_000012.11:g.48527218A>G, NC_000012.11:g.48527218A>T, NG_016199.2:g.33183A>G, NG_016199.2:g.33183A>T, NM_000289.6:c.548A>G, NM_000289.6:c.548A>T, NM_000289.5:c.548A>G, NM_000289.5:c.548A>T, NR_148957.2:n.599A>G, NR_148957.2:n.599A>T, NR_148957.1:n.733A>G, NR_148957.1:n.733A>T, NM_001166686.2:c.761A>G, NM_001166686.2:c.761A>T, NM_001166686.1:c.761A>G, NM_001166686.1:c.761A>T, NM_001354743.2:c.548A>G, NM_001354743.2:c.548A>T, NM_001354743.1:c.548A>G, NM_001354743.1:c.548A>T, NR_148954.2:n.599A>G, NR_148954.2:n.599A>T, NR_148954.1:n.733A>G, NR_148954.1:n.733A>T, NM_001354745.2:c.461A>G, NM_001354745.2:c.461A>T, NM_001354745.1:c.461A>G, NM_001354745.1:c.461A>T, NR_148956.2:n.525A>G, NR_148956.2:n.525A>T, NR_148956.1:n.659A>G, NR_148956.1:n.659A>T, NR_148958.2:n.599A>G, NR_148958.2:n.599A>T, NR_148958.1:n.733A>G, NR_148958.1:n.733A>T, NM_001354741.2:c.572A>G, NM_001354741.2:c.572A>T, NM_001354741.1:c.572A>G, NM_001354741.1:c.572A>T, NR_148959.2:n.525A>G, NR_148959.2:n.525A>T, NR_148959.1:n.659A>G, NR_148959.1:n.659A>T, NM_001166688.2:c.548A>G, NM_001166688.2:c.548A>T, NM_001166688.1:c.548A>G, NM_001166688.1:c.548A>T, NM_001354744.2:c.548A>G, NM_001354744.2:c.548A>T, NM_001354744.1:c.548A>G, NM_001354744.1:c.548A>T, NM_001354742.2:c.548A>G, NM_001354742.2:c.548A>T, NM_001354742.1:c.548A>G, NM_001354742.1:c.548A>T, NM_001166687.2:c.548A>G, NM_001166687.2:c.548A>T, NM_001166687.1:c.548A>G, NM_001166687.1:c.548A>T, NM_001354747.2:c.398A>G, NM_001354747.2:c.398A>T, NM_001354747.1:c.398A>G, NM_001354747.1:c.398A>T, NM_001354748.2:c.398A>G, NM_001354748.2:c.398A>T, NM_001354748.1:c.398A>G, NM_001354748.1:c.398A>T, NM_001363619.2:c.548A>G, NM_001363619.2:c.548A>T, NM_001363619.1:c.548A>G, NM_001363619.1:c.548A>T, NM_001354746.2:c.548A>G, NM_001354746.2:c.548A>T, NM_001354746.1:c.548A>G, NM_001354746.1:c.548A>T, NR_148955.1:n.1369A>G, NR_148955.1:n.1369A>T, NM_001354736.1:c.857A>G, NM_001354736.1:c.857A>T, NM_001354735.1:c.857A>G, NM_001354735.1:c.857A>T, NM_001354737.1:c.761A>G, NM_001354737.1:c.761A>T, NM_001354739.1:c.761A>G, NM_001354739.1:c.761A>T, NM_001354738.1:c.761A>G, NM_001354738.1:c.761A>T, NM_001354740.1:c.692A>G, NM_001354740.1:c.692A>T, XM_005268976.4:c.857A>G, XM_005268976.4:c.857A>T, XM_005268976.3:c.857A>G, XM_005268976.3:c.857A>T, XM_005268976.2:c.857A>G, XM_005268976.2:c.857A>T, XM_005268976.1:c.857A>G, XM_005268976.1:c.857A>T, XM_011538487.2:c.1067A>G, XM_011538487.2:c.1067A>T, XM_011538487.1:c.857A>G, XM_011538487.1:c.857A>T, XM_005268974.2:c.857A>G, XM_005268974.2:c.857A>T, XM_005268974.1:c.857A>G, XM_005268974.1:c.857A>T, XM_024449020.2:c.770A>G, XM_024449020.2:c.770A>T, XM_024449020.1:c.770A>G, XM_024449020.1:c.770A>T, XM_017019469.2:c.761A>G, XM_017019469.2:c.761A>T, XM_017019469.1:c.761A>G, XM_017019469.1:c.761A>T, XM_024449021.2:c.647A>G, XM_024449021.2:c.647A>T, XM_024449021.1:c.647A>G, XM_024449021.1:c.647A>T, XM_024449022.2:c.548A>G, XM_024449022.2:c.548A>T, XM_024449022.1:c.548A>G, XM_024449022.1:c.548A>T, XM_047428999.1:c.1067A>G, XM_047428999.1:c.1067A>T, XM_047429000.1:c.971A>G, XM_047429000.1:c.971A>T, XM_047429001.1:c.866A>G, XM_047429001.1:c.866A>T, XM_047429002.1:c.770A>G, XM_047429002.1:c.770A>T, XM_047429003.1:c.692A>G, XM_047429003.1:c.692A>T, XM_047429004.1:c.647A>G, XM_047429004.1:c.647A>T, NP_000280.1:p.His183Arg, NP_000280.1:p.His183Leu, NP_001160158.1:p.His254Arg, NP_001160158.1:p.His254Leu, NP_001341672.1:p.His183Arg, NP_001341672.1:p.His183Leu, NP_001341674.1:p.His154Arg, NP_001341674.1:p.His154Leu, NP_001341670.1:p.His191Arg, NP_001341670.1:p.His191Leu, NP_001160160.1:p.His183Arg, NP_001160160.1:p.His183Leu, NP_001341673.1:p.His183Arg, NP_001341673.1:p.His183Leu, NP_001341671.1:p.His183Arg, NP_001341671.1:p.His183Leu, NP_001160159.1:p.His183Arg, NP_001160159.1:p.His183Leu, NP_001341676.1:p.His133Arg, NP_001341676.1:p.His133Leu, NP_001341677.1:p.His133Arg, NP_001341677.1:p.His133Leu, NP_001350548.1:p.His183Arg, NP_001350548.1:p.His183Leu, NP_001341675.1:p.His183Arg, NP_001341675.1:p.His183Leu, NP_001341665.1:p.His286Arg, NP_001341665.1:p.His286Leu, NP_001341664.1:p.His286Arg, NP_001341664.1:p.His286Leu, NP_001341666.1:p.His254Arg, NP_001341666.1:p.His254Leu, NP_001341668.1:p.His254Arg, NP_001341668.1:p.His254Leu, NP_001341667.1:p.His254Arg, NP_001341667.1:p.His254Leu, NP_001341669.1:p.His231Arg, NP_001341669.1:p.His231Leu, XP_005269033.1:p.His286Arg, XP_005269033.1:p.His286Leu, XP_011536789.2:p.His356Arg, XP_011536789.2:p.His356Leu, XP_005269031.1:p.His286Arg, XP_005269031.1:p.His286Leu, XP_024304788.1:p.His257Arg, XP_024304788.1:p.His257Leu, XP_016874958.1:p.His254Arg, XP_016874958.1:p.His254Leu, XP_024304789.1:p.His216Arg, XP_024304789.1:p.His216Leu, XP_024304790.1:p.His183Arg, XP_024304790.1:p.His183Leu, XP_047284955.1:p.His356Arg, XP_047284955.1:p.His356Leu, XP_047284956.1:p.His324Arg, XP_047284956.1:p.His324Leu, XP_047284957.1:p.His289Arg, XP_047284957.1:p.His289Leu, XP_047284958.1:p.His257Arg, XP_047284958.1:p.His257Leu, XP_047284959.1:p.His231Arg, XP_047284959.1:p.His231Leu, XP_047284960.1:p.His216Arg, XP_047284960.1:p.His216Leu

                                    18.

                                    rs1458812292 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:48144118 (GRCh38)
                                      12:48537901 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:48144117:C:T
                                      Gene:
                                      PFKM (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      HGVS:
                                      NC_000012.12:g.48144118C>T, NC_000012.11:g.48537901C>T, NG_016199.2:g.43866C>T, NM_000289.6:c.1953C>T, NM_000289.5:c.1953C>T, NR_148957.2:n.2411C>T, NR_148957.1:n.2545C>T, NM_001166686.2:c.2166C>T, NM_001166686.1:c.2166C>T, NM_001354743.2:c.1953C>T, NM_001354743.1:c.1953C>T, NR_148954.2:n.2256C>T, NR_148954.1:n.2390C>T, NM_001354745.2:c.1866C>T, NM_001354745.1:c.1866C>T, NR_148956.2:n.2182C>T, NR_148956.1:n.2316C>T, NR_148958.2:n.2159C>T, NR_148958.1:n.2293C>T, NM_001354741.2:c.1977C>T, NM_001354741.1:c.1977C>T, NR_148959.2:n.2085C>T, NR_148959.1:n.2219C>T, NM_001166688.2:c.1953C>T, NM_001166688.1:c.1953C>T, NM_001354744.2:c.1953C>T, NM_001354744.1:c.1953C>T, NM_001354742.2:c.1953C>T, NM_001354742.1:c.1953C>T, NM_001166687.2:c.1953C>T, NM_001166687.1:c.1953C>T, NM_001354747.2:c.1803C>T, NM_001354747.1:c.1803C>T, NM_001354748.2:c.1803C>T, NM_001354748.1:c.1803C>T, NM_001363619.2:c.1860C>T, NM_001363619.1:c.1860C>T, NM_001354746.2:c.1827C>T, NM_001354746.1:c.1827C>T, NR_148955.1:n.3026C>T, NM_001354736.1:c.2262C>T, NM_001354735.1:c.2262C>T, NM_001354737.1:c.2166C>T, NM_001354739.1:c.2166C>T, NM_001354738.1:c.2166C>T, NM_001354740.1:c.2097C>T, XM_005268976.4:c.2262C>T, XM_005268976.3:c.2262C>T, XM_005268976.2:c.2262C>T, XM_005268976.1:c.2262C>T, XM_011538487.2:c.2379C>T, XM_011538487.1:c.2169C>T, XM_005268974.2:c.2262C>T, XM_005268974.1:c.2262C>T, XM_024449020.2:c.2175C>T, XM_024449020.1:c.2175C>T, XM_017019469.2:c.2073C>T, XM_017019469.1:c.2073C>T, XM_024449021.2:c.2052C>T, XM_024449021.1:c.2052C>T, XM_024449022.2:c.1953C>T, XM_024449022.1:c.1953C>T, XM_047428999.1:c.2472C>T, XM_047429000.1:c.2376C>T, XM_047429001.1:c.2271C>T, XM_047429002.1:c.2082C>T, XM_047429003.1:c.2004C>T, XM_047429004.1:c.1959C>T

                                      19.

                                      rs1458400203 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTCC>- [Show Flanks]
                                        Chromosome:
                                        12:48145275 (GRCh38)
                                        12:48539058 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:48145273:CTTCC:C
                                        Gene:
                                        PFKM (Varview)
                                        Functional Consequence:
                                        frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.48145275_48145278del, NC_000012.11:g.48539058_48539061del, NG_016199.2:g.45023_45026del, NM_000289.6:c.2158_2161del, NM_000289.5:c.2158_2161del, NR_148957.2:n.2616_2619del, NR_148957.1:n.2750_2753del, NM_001166686.2:c.2371_2374del, NM_001166686.1:c.2371_2374del, NM_001354743.2:c.2158_2161del, NM_001354743.1:c.2158_2161del, NR_148954.2:n.2461_2464del, NR_148954.1:n.2595_2598del, NM_001354745.2:c.2071_2074del, NM_001354745.1:c.2071_2074del, NR_148956.2:n.2387_2390del, NR_148956.1:n.2521_2524del, NR_148958.2:n.2364_2367del, NR_148958.1:n.2498_2501del, NM_001354741.2:c.2182_2185del, NM_001354741.1:c.2182_2185del, NR_148959.2:n.2290_2293del, NR_148959.1:n.2424_2427del, NM_001166688.2:c.2158_2161del, NM_001166688.1:c.2158_2161del, NM_001354744.2:c.2158_2161del, NM_001354744.1:c.2158_2161del, NM_001354742.2:c.2158_2161del, NM_001354742.1:c.2158_2161del, NM_001166687.2:c.2158_2161del, NM_001166687.1:c.2158_2161del, NM_001354747.2:c.2008_2011del, NM_001354747.1:c.2008_2011del, NM_001354748.2:c.2008_2011del, NM_001354748.1:c.2008_2011del, NM_001363619.2:c.2065_2068del, NM_001363619.1:c.2065_2068del, NM_001354746.2:c.2032_2035del, NM_001354746.1:c.2032_2035del, NR_148955.1:n.3231_3234del, NM_001354736.1:c.2467_2470del, NM_001354735.1:c.2467_2470del, NM_001354737.1:c.2371_2374del, NM_001354739.1:c.2371_2374del, NM_001354738.1:c.2371_2374del, NM_001354740.1:c.2302_2305del, XM_005268976.4:c.2467_2470del, XM_005268976.3:c.2467_2470del, XM_005268976.2:c.2467_2470del, XM_005268976.1:c.2467_2470del, XM_011538487.2:c.2584_2587del, XM_011538487.1:c.2374_2377del, XM_005268974.2:c.2467_2470del, XM_005268974.1:c.2467_2470del, XM_024449020.2:c.2380_2383del, XM_024449020.1:c.2380_2383del, XM_017019469.2:c.2278_2281del, XM_017019469.1:c.2278_2281del, XM_024449021.2:c.2257_2260del, XM_024449021.1:c.2257_2260del, XM_024449022.2:c.2158_2161del, XM_024449022.1:c.2158_2161del, XM_047428999.1:c.2677_2680del, XM_047429000.1:c.2581_2584del, XM_047429001.1:c.2476_2479del, XM_047429002.1:c.2287_2290del, XM_047429003.1:c.2209_2212del, XM_047429004.1:c.2164_2167del, NP_000280.1:p.Phe720fs, NP_001160158.1:p.Phe791fs, NP_001341672.1:p.Phe720fs, NP_001341674.1:p.Phe691fs, NP_001341670.1:p.Phe728fs, NP_001160160.1:p.Phe720fs, NP_001341673.1:p.Phe720fs, NP_001341671.1:p.Phe720fs, NP_001160159.1:p.Phe720fs, NP_001341676.1:p.Phe670fs, NP_001341677.1:p.Phe670fs, NP_001350548.1:p.Phe689fs, NP_001341675.1:p.Phe678fs, NP_001341665.1:p.Phe823fs, NP_001341664.1:p.Phe823fs, NP_001341666.1:p.Phe791fs, NP_001341668.1:p.Phe791fs, NP_001341667.1:p.Phe791fs, NP_001341669.1:p.Phe768fs, XP_005269033.1:p.Phe823fs, XP_011536789.2:p.Phe862fs, XP_005269031.1:p.Phe823fs, XP_024304788.1:p.Phe794fs, XP_016874958.1:p.Phe760fs, XP_024304789.1:p.Phe753fs, XP_024304790.1:p.Phe720fs, XP_047284955.1:p.Phe893fs, XP_047284956.1:p.Phe861fs, XP_047284957.1:p.Phe826fs, XP_047284958.1:p.Phe763fs, XP_047284959.1:p.Phe737fs, XP_047284960.1:p.Phe722fs

                                        20.

                                        rs1458356845 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:48142809 (GRCh38)
                                          12:48536592 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:48142808:G:A
                                          Gene:
                                          PFKM (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.48142809G>A, NC_000012.11:g.48536592G>A, NG_016199.2:g.42557G>A, NM_000289.6:c.1681G>A, NM_000289.5:c.1681G>A, NR_148957.2:n.2139G>A, NR_148957.1:n.2273G>A, NM_001166686.2:c.1894G>A, NM_001166686.1:c.1894G>A, NM_001354743.2:c.1681G>A, NM_001354743.1:c.1681G>A, NR_148954.2:n.1984G>A, NR_148954.1:n.2118G>A, NM_001354745.2:c.1594G>A, NM_001354745.1:c.1594G>A, NR_148956.2:n.1910G>A, NR_148956.1:n.2044G>A, NR_148958.2:n.1887G>A, NR_148958.1:n.2021G>A, NM_001354741.2:c.1705G>A, NM_001354741.1:c.1705G>A, NR_148959.2:n.1813G>A, NR_148959.1:n.1947G>A, NM_001166688.2:c.1681G>A, NM_001166688.1:c.1681G>A, NM_001354744.2:c.1681G>A, NM_001354744.1:c.1681G>A, NM_001354742.2:c.1681G>A, NM_001354742.1:c.1681G>A, NM_001166687.2:c.1681G>A, NM_001166687.1:c.1681G>A, NM_001354747.2:c.1531G>A, NM_001354747.1:c.1531G>A, NM_001354748.2:c.1531G>A, NM_001354748.1:c.1531G>A, NM_001363619.2:c.1588G>A, NM_001363619.1:c.1588G>A, NM_001354746.2:c.1555G>A, NM_001354746.1:c.1555G>A, NR_148955.1:n.2754G>A, NM_001354736.1:c.1990G>A, NM_001354735.1:c.1990G>A, NM_001354737.1:c.1894G>A, NM_001354739.1:c.1894G>A, NM_001354738.1:c.1894G>A, NM_001354740.1:c.1825G>A, XM_005268976.4:c.1990G>A, XM_005268976.3:c.1990G>A, XM_005268976.2:c.1990G>A, XM_005268976.1:c.1990G>A, XM_011538487.2:c.2107G>A, XM_011538487.1:c.1897G>A, XM_005268974.2:c.1990G>A, XM_005268974.1:c.1990G>A, XM_024449020.2:c.1903G>A, XM_024449020.1:c.1903G>A, XM_017019469.2:c.1801G>A, XM_017019469.1:c.1801G>A, XM_024449021.2:c.1780G>A, XM_024449021.1:c.1780G>A, XM_024449022.2:c.1681G>A, XM_024449022.1:c.1681G>A, XM_047428999.1:c.2200G>A, XM_047429000.1:c.2104G>A, XM_047429001.1:c.1999G>A, XM_047429002.1:c.1810G>A, XM_047429003.1:c.1732G>A, XM_047429004.1:c.1687G>A, NP_000280.1:p.Ala561Thr, NP_001160158.1:p.Ala632Thr, NP_001341672.1:p.Ala561Thr, NP_001341674.1:p.Ala532Thr, NP_001341670.1:p.Ala569Thr, NP_001160160.1:p.Ala561Thr, NP_001341673.1:p.Ala561Thr, NP_001341671.1:p.Ala561Thr, NP_001160159.1:p.Ala561Thr, NP_001341676.1:p.Ala511Thr, NP_001341677.1:p.Ala511Thr, NP_001350548.1:p.Ala530Thr, NP_001341675.1:p.Ala519Thr, NP_001341665.1:p.Ala664Thr, NP_001341664.1:p.Ala664Thr, NP_001341666.1:p.Ala632Thr, NP_001341668.1:p.Ala632Thr, NP_001341667.1:p.Ala632Thr, NP_001341669.1:p.Ala609Thr, XP_005269033.1:p.Ala664Thr, XP_011536789.2:p.Ala703Thr, XP_005269031.1:p.Ala664Thr, XP_024304788.1:p.Ala635Thr, XP_016874958.1:p.Ala601Thr, XP_024304789.1:p.Ala594Thr, XP_024304790.1:p.Ala561Thr, XP_047284955.1:p.Ala734Thr, XP_047284956.1:p.Ala702Thr, XP_047284957.1:p.Ala667Thr, XP_047284958.1:p.Ala604Thr, XP_047284959.1:p.Ala578Thr, XP_047284960.1:p.Ala563Thr

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...