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Items: 1 to 20 of 1000

1.

rs1490801612 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    10:3101517 (GRCh38)
    10:3143709 (GRCh37)
    Canonical SPDI:
    NC_000010.11:3101516:G:T
    Gene:
    PFKP (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000010.11:g.3101517G>T, NC_000010.10:g.3143709G>T, NG_051598.1:g.39044G>T, NM_002627.5:c.417G>T, NM_002627.4:c.417G>T, NM_001323072.2:c.303G>T, NM_001323072.1:c.303G>T, NM_001242339.2:c.393G>T, NM_001242339.1:c.393G>T, NM_001323071.2:c.303G>T, NM_001323071.1:c.303G>T, NM_001323069.2:c.-86G>T, NM_001323069.1:c.-86G>T, NM_001323067.2:c.336G>T, NM_001323067.1:c.336G>T, NM_001323068.2:c.417G>T, NM_001323068.1:c.417G>T, NM_001410880.1:c.417G>T, NM_001345944.1:c.303G>T, XM_005252465.5:c.417G>T, XM_005252466.5:c.417G>T, XM_005252466.4:c.417G>T, XM_005252466.3:c.417G>T, XM_005252466.2:c.417G>T, XM_005252466.1:c.417G>T, XM_006717449.2:c.303G>T, XM_006717449.1:c.303G>T, XM_047425350.1:c.303G>T, NP_002618.1:p.Lys139Asn, NP_001310001.1:p.Lys101Asn, NP_001229268.1:p.Lys131Asn, NP_001310000.1:p.Lys101Asn, NP_001309996.1:p.Lys112Asn, NP_001309997.1:p.Lys139Asn, NP_001332873.1:p.Lys101Asn, XP_005252522.1:p.Lys139Asn, XP_005252523.1:p.Lys139Asn, XP_006717512.1:p.Lys101Asn, XP_047281306.1:p.Lys101Asn

    2.

    rs1488793851 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      10:3129978 (GRCh38)
      10:3172170 (GRCh37)
      Canonical SPDI:
      NC_000010.11:3129977:C:G
      Gene:
      PFKP (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      G=0.000009/2 (GnomAD_exomes)
      G=0.000546/1 (Korea1K)
      HGVS:
      NC_000010.11:g.3129978C>G, NC_000010.10:g.3172170C>G, NG_051598.1:g.67505C>G, NM_002627.5:c.1843C>G, NM_002627.4:c.1843C>G, NM_001323072.2:c.1729C>G, NM_001323072.1:c.1729C>G, NM_001242339.2:c.1819C>G, NM_001242339.1:c.1819C>G, NM_001323071.2:c.1729C>G, NM_001323071.1:c.1729C>G, NM_001323069.2:c.1336C>G, NM_001323069.1:c.1336C>G, NM_001323067.2:c.1762C>G, NM_001323067.1:c.1762C>G, NM_001323068.2:c.1690C>G, NM_001323068.1:c.1690C>G, NM_001410880.1:c.1996C>G, NM_001345944.1:c.1729C>G, NM_001323074.1:c.1195C>G, NM_001323070.1:c.1042C>G, NM_001323073.1:c.1195C>G, XM_005252465.5:c.1996C>G, XM_005252466.5:c.1843C>G, XM_005252466.4:c.1843C>G, XM_005252466.3:c.1843C>G, XM_005252466.2:c.1843C>G, XM_005252466.1:c.1843C>G, XM_006717449.2:c.1882C>G, XM_006717449.1:c.1882C>G, XM_047425350.1:c.1882C>G, NP_002618.1:p.Leu615Val, NP_001310001.1:p.Leu577Val, NP_001229268.1:p.Leu607Val, NP_001310000.1:p.Leu577Val, NP_001309998.1:p.Leu446Val, NP_001309996.1:p.Leu588Val, NP_001309997.1:p.Leu564Val, NP_001332873.1:p.Leu577Val, NP_001310003.1:p.Leu399Val, NP_001309999.1:p.Leu348Val, NP_001310002.1:p.Leu399Val, XP_005252522.1:p.Leu666Val, XP_005252523.1:p.Leu615Val, XP_006717512.1:p.Leu628Val, XP_047281306.1:p.Leu628Val

      3.

      rs1488543826 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        10:3099338 (GRCh38)
        10:3141530 (GRCh37)
        Canonical SPDI:
        NC_000010.11:3099337:A:C
        Gene:
        PFKP (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.3099338A>C, NC_000010.10:g.3141530A>C, NG_051598.1:g.36865A>C, NM_002627.5:c.250A>C, NM_002627.4:c.250A>C, NM_001323072.2:c.136A>C, NM_001323072.1:c.136A>C, NM_001242339.2:c.146A>C, NM_001242339.1:c.146A>C, NM_001323071.2:c.136A>C, NM_001323071.1:c.136A>C, NM_001323069.2:c.-253A>C, NM_001323069.1:c.-253A>C, NM_001323067.2:c.169A>C, NM_001323067.1:c.169A>C, NM_001323068.2:c.250A>C, NM_001323068.1:c.250A>C, NM_001410880.1:c.250A>C, NM_001345944.1:c.136A>C, XM_005252465.5:c.250A>C, XM_005252466.5:c.250A>C, XM_005252466.4:c.250A>C, XM_005252466.3:c.250A>C, XM_005252466.2:c.250A>C, XM_005252466.1:c.250A>C, XM_006717449.2:c.136A>C, XM_006717449.1:c.136A>C, XM_047425350.1:c.136A>C, NP_002618.1:p.Ser84Arg, NP_001310001.1:p.Ser46Arg, NP_001229268.1:p.Gln49Pro, NP_001310000.1:p.Ser46Arg, NP_001309996.1:p.Ser57Arg, NP_001309997.1:p.Ser84Arg, NP_001332873.1:p.Ser46Arg, XP_005252522.1:p.Ser84Arg, XP_005252523.1:p.Ser84Arg, XP_006717512.1:p.Ser46Arg, XP_047281306.1:p.Ser46Arg

        4.

        rs1488284386 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:3113188 (GRCh38)
          10:3155380 (GRCh37)
          Canonical SPDI:
          NC_000010.11:3113187:G:A
          Gene:
          PFKP (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1488254861 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            10:3109378 (GRCh38)
            10:3151570 (GRCh37)
            Canonical SPDI:
            NC_000010.11:3109377:A:G,NC_000010.11:3109377:A:T
            Gene:
            PFKP (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.3109378A>G, NC_000010.11:g.3109378A>T, NC_000010.10:g.3151570A>G, NC_000010.10:g.3151570A>T, NG_051598.1:g.46905A>G, NG_051598.1:g.46905A>T, NM_002627.5:c.987A>G, NM_002627.5:c.987A>T, NM_002627.4:c.987A>G, NM_002627.4:c.987A>T, NM_001323072.2:c.873A>G, NM_001323072.2:c.873A>T, NM_001323072.1:c.873A>G, NM_001323072.1:c.873A>T, NM_001242339.2:c.963A>G, NM_001242339.2:c.963A>T, NM_001242339.1:c.963A>G, NM_001242339.1:c.963A>T, NM_001323071.2:c.873A>G, NM_001323071.2:c.873A>T, NM_001323071.1:c.873A>G, NM_001323071.1:c.873A>T, NM_001323069.2:c.480A>G, NM_001323069.2:c.480A>T, NM_001323069.1:c.480A>G, NM_001323069.1:c.480A>T, NM_001323067.2:c.906A>G, NM_001323067.2:c.906A>T, NM_001323067.1:c.906A>G, NM_001323067.1:c.906A>T, NM_001323068.2:c.987A>G, NM_001323068.2:c.987A>T, NM_001323068.1:c.987A>G, NM_001323068.1:c.987A>T, NM_001410880.1:c.987A>G, NM_001410880.1:c.987A>T, NM_001345944.1:c.873A>G, NM_001345944.1:c.873A>T, NM_001323074.1:c.339A>G, NM_001323074.1:c.339A>T, NM_001323070.1:c.339A>G, NM_001323070.1:c.339A>T, NM_001323073.1:c.339A>G, NM_001323073.1:c.339A>T, XM_005252465.5:c.987A>G, XM_005252465.5:c.987A>T, XM_005252466.5:c.987A>G, XM_005252466.5:c.987A>T, XM_005252466.4:c.987A>G, XM_005252466.4:c.987A>T, XM_005252466.3:c.987A>G, XM_005252466.3:c.987A>T, XM_005252466.2:c.987A>G, XM_005252466.2:c.987A>T, XM_005252466.1:c.987A>G, XM_005252466.1:c.987A>T, XM_006717449.2:c.873A>G, XM_006717449.2:c.873A>T, XM_006717449.1:c.873A>G, XM_006717449.1:c.873A>T, XM_047425350.1:c.873A>G, XM_047425350.1:c.873A>T

            6.

            rs1485779617 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:3118826 (GRCh38)
              10:3161018 (GRCh37)
              Canonical SPDI:
              NC_000010.11:3118825:G:A
              Gene:
              PFKP (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.3118826G>A, NC_000010.10:g.3161018G>A, NG_051598.1:g.56353G>A, NM_002627.5:c.1487G>A, NM_002627.4:c.1487G>A, NM_001323072.2:c.1373G>A, NM_001323072.1:c.1373G>A, NM_001242339.2:c.1463G>A, NM_001242339.1:c.1463G>A, NM_001323071.2:c.1373G>A, NM_001323071.1:c.1373G>A, NM_001323069.2:c.980G>A, NM_001323069.1:c.980G>A, NM_001323067.2:c.1406G>A, NM_001323067.1:c.1406G>A, NM_001323068.2:c.1487G>A, NM_001323068.1:c.1487G>A, NM_001410880.1:c.1487G>A, NM_001345944.1:c.1373G>A, NM_001323074.1:c.839G>A, NM_001323070.1:c.839G>A, NM_001323073.1:c.839G>A, XM_005252465.5:c.1487G>A, XM_005252466.5:c.1487G>A, XM_005252466.4:c.1487G>A, XM_005252466.3:c.1487G>A, XM_005252466.2:c.1487G>A, XM_005252466.1:c.1487G>A, XM_006717449.2:c.1373G>A, XM_006717449.1:c.1373G>A, XM_047425350.1:c.1373G>A, NP_002618.1:p.Arg496His, NP_001310001.1:p.Arg458His, NP_001229268.1:p.Arg488His, NP_001310000.1:p.Arg458His, NP_001309998.1:p.Arg327His, NP_001309996.1:p.Arg469His, NP_001309997.1:p.Arg496His, NP_001332873.1:p.Arg458His, NP_001310003.1:p.Arg280His, NP_001309999.1:p.Arg280His, NP_001310002.1:p.Arg280His, XP_005252522.1:p.Arg496His, XP_005252523.1:p.Arg496His, XP_006717512.1:p.Arg458His, XP_047281306.1:p.Arg458His

              7.

              rs1482516726 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                T>- [Show Flanks]
                Chromosome:
                10:3108791 (GRCh38)
                10:3150983 (GRCh37)
                Canonical SPDI:
                NC_000010.11:3108790:TT:T
                Gene:
                PFKP (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TT=0./0 (ALFA)
                -=0.000004/1 (GnomAD_exomes)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.3108792del, NC_000010.10:g.3150984del, NG_051598.1:g.46319del, NM_002627.5:c.962del, NM_002627.4:c.962del, NM_001323072.2:c.848del, NM_001323072.1:c.848del, NM_001242339.2:c.938del, NM_001242339.1:c.938del, NM_001323071.2:c.848del, NM_001323071.1:c.848del, NM_001323069.2:c.455del, NM_001323069.1:c.455del, NM_001323067.2:c.881del, NM_001323067.1:c.881del, NM_001323068.2:c.962del, NM_001323068.1:c.962del, NM_001410880.1:c.962del, NM_001345944.1:c.848del, NM_001323074.1:c.314del, NM_001323070.1:c.314del, NM_001323073.1:c.314del, XM_005252465.5:c.962del, XM_005252466.5:c.962del, XM_005252466.4:c.962del, XM_005252466.3:c.962del, XM_005252466.2:c.962del, XM_005252466.1:c.962del, XM_006717449.2:c.848del, XM_006717449.1:c.848del, XM_047425350.1:c.848del, NP_002618.1:p.Leu321fs, NP_001310001.1:p.Leu283fs, NP_001229268.1:p.Leu313fs, NP_001310000.1:p.Leu283fs, NP_001309998.1:p.Leu152fs, NP_001309996.1:p.Leu294fs, NP_001309997.1:p.Leu321fs, NP_001332873.1:p.Leu283fs, NP_001310003.1:p.Leu105fs, NP_001309999.1:p.Leu105fs, NP_001310002.1:p.Leu105fs, XP_005252522.1:p.Leu321fs, XP_005252523.1:p.Leu321fs, XP_006717512.1:p.Leu283fs, XP_047281306.1:p.Leu283fs

                8.

                rs1481063491 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:3113147 (GRCh38)
                  10:3155339 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:3113146:A:G
                  Gene:
                  PFKP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.3113147A>G, NC_000010.10:g.3155339A>G, NG_051598.1:g.50674A>G, NM_002627.5:c.1183A>G, NM_002627.4:c.1183A>G, NM_001323072.2:c.1069A>G, NM_001323072.1:c.1069A>G, NM_001242339.2:c.1159A>G, NM_001242339.1:c.1159A>G, NM_001323071.2:c.1069A>G, NM_001323071.1:c.1069A>G, NM_001323069.2:c.676A>G, NM_001323069.1:c.676A>G, NM_001323067.2:c.1102A>G, NM_001323067.1:c.1102A>G, NM_001323068.2:c.1183A>G, NM_001323068.1:c.1183A>G, NM_001410880.1:c.1183A>G, NM_001345944.1:c.1069A>G, NM_001323074.1:c.535A>G, NM_001323070.1:c.535A>G, NM_001323073.1:c.535A>G, XM_005252465.5:c.1183A>G, XM_005252466.5:c.1183A>G, XM_005252466.4:c.1183A>G, XM_005252466.3:c.1183A>G, XM_005252466.2:c.1183A>G, XM_005252466.1:c.1183A>G, XM_006717449.2:c.1069A>G, XM_006717449.1:c.1069A>G, XM_047425350.1:c.1069A>G, NP_002618.1:p.Lys395Glu, NP_001310001.1:p.Lys357Glu, NP_001229268.1:p.Lys387Glu, NP_001310000.1:p.Lys357Glu, NP_001309998.1:p.Lys226Glu, NP_001309996.1:p.Lys368Glu, NP_001309997.1:p.Lys395Glu, NP_001332873.1:p.Lys357Glu, NP_001310003.1:p.Lys179Glu, NP_001309999.1:p.Lys179Glu, NP_001310002.1:p.Lys179Glu, XP_005252522.1:p.Lys395Glu, XP_005252523.1:p.Lys395Glu, XP_006717512.1:p.Lys357Glu, XP_047281306.1:p.Lys357Glu

                  9.

                  rs1480320863 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    10:3109376 (GRCh38)
                    10:3151568 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:3109375:G:T
                    Gene:
                    PFKP (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000010.11:g.3109376G>T, NC_000010.10:g.3151568G>T, NG_051598.1:g.46903G>T, NM_002627.5:c.985G>T, NM_002627.4:c.985G>T, NM_001323072.2:c.871G>T, NM_001323072.1:c.871G>T, NM_001242339.2:c.961G>T, NM_001242339.1:c.961G>T, NM_001323071.2:c.871G>T, NM_001323071.1:c.871G>T, NM_001323069.2:c.478G>T, NM_001323069.1:c.478G>T, NM_001323067.2:c.904G>T, NM_001323067.1:c.904G>T, NM_001323068.2:c.985G>T, NM_001323068.1:c.985G>T, NM_001410880.1:c.985G>T, NM_001345944.1:c.871G>T, NM_001323074.1:c.337G>T, NM_001323070.1:c.337G>T, NM_001323073.1:c.337G>T, XM_005252465.5:c.985G>T, XM_005252466.5:c.985G>T, XM_005252466.4:c.985G>T, XM_005252466.3:c.985G>T, XM_005252466.2:c.985G>T, XM_005252466.1:c.985G>T, XM_006717449.2:c.871G>T, XM_006717449.1:c.871G>T, XM_047425350.1:c.871G>T, NP_002618.1:p.Ala329Ser, NP_001310001.1:p.Ala291Ser, NP_001229268.1:p.Ala321Ser, NP_001310000.1:p.Ala291Ser, NP_001309998.1:p.Ala160Ser, NP_001309996.1:p.Ala302Ser, NP_001309997.1:p.Ala329Ser, NP_001332873.1:p.Ala291Ser, NP_001310003.1:p.Ala113Ser, NP_001309999.1:p.Ala113Ser, NP_001310002.1:p.Ala113Ser, XP_005252522.1:p.Ala329Ser, XP_005252523.1:p.Ala329Ser, XP_006717512.1:p.Ala291Ser, XP_047281306.1:p.Ala291Ser

                    10.

                    rs1480205875 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      10:3105470 (GRCh38)
                      10:3147662 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:3105469:GGG:GG
                      Gene:
                      PFKP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.3105472del, NC_000010.10:g.3147664del, NG_051598.1:g.42999del, NM_002627.5:c.745del, NM_002627.4:c.745del, NM_001323072.2:c.631del, NM_001323072.1:c.631del, NM_001242339.2:c.721del, NM_001242339.1:c.721del, NM_001323071.2:c.631del, NM_001323071.1:c.631del, NM_001323069.2:c.238del, NM_001323069.1:c.238del, NM_001323067.2:c.664del, NM_001323067.1:c.664del, NM_001323068.2:c.745del, NM_001323068.1:c.745del, NM_001410880.1:c.745del, NM_001345944.1:c.631del, NM_001323074.1:c.97del, NM_001323070.1:c.97del, NM_001323073.1:c.97del, XM_005252465.5:c.745del, XM_005252466.5:c.745del, XM_005252466.4:c.745del, XM_005252466.3:c.745del, XM_005252466.2:c.745del, XM_005252466.1:c.745del, XM_006717449.2:c.631del, XM_006717449.1:c.631del, XM_047425350.1:c.631del, NP_002618.1:p.Glu249fs, NP_001310001.1:p.Glu211fs, NP_001229268.1:p.Glu241fs, NP_001310000.1:p.Glu211fs, NP_001309998.1:p.Glu80fs, NP_001309996.1:p.Glu222fs, NP_001309997.1:p.Glu249fs, NP_001332873.1:p.Glu211fs, NP_001310003.1:p.Glu33fs, NP_001309999.1:p.Glu33fs, NP_001310002.1:p.Glu33fs, XP_005252522.1:p.Glu249fs, XP_005252523.1:p.Glu249fs, XP_006717512.1:p.Glu211fs, XP_047281306.1:p.Glu211fs

                      11.

                      rs1479449176 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        10:3118839 (GRCh38)
                        10:3161031 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:3118838:C:G
                        Gene:
                        PFKP (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000014/2 (GnomAD)
                        G=0.000019/5 (TOPMED)
                        HGVS:
                        NC_000010.11:g.3118839C>G, NC_000010.10:g.3161031C>G, NG_051598.1:g.56366C>G, NM_002627.5:c.1500C>G, NM_002627.4:c.1500C>G, NM_001323072.2:c.1386C>G, NM_001323072.1:c.1386C>G, NM_001242339.2:c.1476C>G, NM_001242339.1:c.1476C>G, NM_001323071.2:c.1386C>G, NM_001323071.1:c.1386C>G, NM_001323069.2:c.993C>G, NM_001323069.1:c.993C>G, NM_001323067.2:c.1419C>G, NM_001323067.1:c.1419C>G, NM_001323068.2:c.1500C>G, NM_001323068.1:c.1500C>G, NM_001410880.1:c.1500C>G, NM_001345944.1:c.1386C>G, NM_001323074.1:c.852C>G, NM_001323070.1:c.852C>G, NM_001323073.1:c.852C>G, XM_005252465.5:c.1500C>G, XM_005252466.5:c.1500C>G, XM_005252466.4:c.1500C>G, XM_005252466.3:c.1500C>G, XM_005252466.2:c.1500C>G, XM_005252466.1:c.1500C>G, XM_006717449.2:c.1386C>G, XM_006717449.1:c.1386C>G, XM_047425350.1:c.1386C>G, NP_002618.1:p.Ile500Met, NP_001310001.1:p.Ile462Met, NP_001229268.1:p.Ile492Met, NP_001310000.1:p.Ile462Met, NP_001309998.1:p.Ile331Met, NP_001309996.1:p.Ile473Met, NP_001309997.1:p.Ile500Met, NP_001332873.1:p.Ile462Met, NP_001310003.1:p.Ile284Met, NP_001309999.1:p.Ile284Met, NP_001310002.1:p.Ile284Met, XP_005252522.1:p.Ile500Met, XP_005252523.1:p.Ile500Met, XP_006717512.1:p.Ile462Met, XP_047281306.1:p.Ile462Met

                        12.

                        rs1478600569 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:3112236 (GRCh38)
                          10:3154428 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:3112235:G:A
                          Gene:
                          PFKP (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1478562963 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:3134506 (GRCh38)
                            10:3176698 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:3134505:T:C
                            Gene:
                            PFKP (Varview), SNORD142 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000028/1 (ALFA)
                            C=0.000008/1 (ExAC)
                            C=0.00002/5 (GnomAD_exomes)
                            C=0.000036/5 (GnomAD)
                            C=0.000038/10 (TOPMED)
                            HGVS:

                            14.

                            rs1478355574 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GAGCTGATGC>- [Show Flanks]
                              Chromosome:
                              10:3129931 (GRCh38)
                              10:3172123 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:3129930:GAGCTGATGC:
                              Gene:
                              PFKP (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant
                              Validated:
                              by cluster
                              HGVS:
                              NC_000010.11:g.3129931_3129940del, NC_000010.10:g.3172123_3172132del, NG_051598.1:g.67458_67467del, NM_002627.5:c.1796_1805del, NM_002627.4:c.1796_1805del, NM_001323072.2:c.1682_1691del, NM_001323072.1:c.1682_1691del, NM_001242339.2:c.1772_1781del, NM_001242339.1:c.1772_1781del, NM_001323071.2:c.1682_1691del, NM_001323071.1:c.1682_1691del, NM_001323069.2:c.1289_1298del, NM_001323069.1:c.1289_1298del, NM_001323067.2:c.1715_1724del, NM_001323067.1:c.1715_1724del, NM_001323068.2:c.1643_1652del, NM_001323068.1:c.1643_1652del, NM_001410880.1:c.1949_1958del, NM_001345944.1:c.1682_1691del, NM_001323074.1:c.1148_1157del, NM_001323070.1:c.995_1004del, NM_001323073.1:c.1148_1157del, XM_005252465.5:c.1949_1958del, XM_005252466.5:c.1796_1805del, XM_005252466.4:c.1796_1805del, XM_005252466.3:c.1796_1805del, XM_005252466.2:c.1796_1805del, XM_005252466.1:c.1796_1805del, XM_006717449.2:c.1835_1844del, XM_006717449.1:c.1835_1844del, XM_047425350.1:c.1835_1844del, NP_002618.1:p.Gly599fs, NP_001310001.1:p.Gly561fs, NP_001229268.1:p.Gly591fs, NP_001310000.1:p.Gly561fs, NP_001309998.1:p.Gly430fs, NP_001309996.1:p.Gly572fs, NP_001309997.1:p.Gly548fs, NP_001332873.1:p.Gly561fs, NP_001310003.1:p.Gly383fs, NP_001309999.1:p.Gly332fs, NP_001310002.1:p.Gly383fs, XP_005252522.1:p.Gly650fs, XP_005252523.1:p.Gly599fs, XP_006717512.1:p.Gly612fs, XP_047281306.1:p.Gly612fs

                              15.

                              rs1475930806 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                10:3118804 (GRCh38)
                                10:3160996 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:3118803:G:T
                                Gene:
                                PFKP (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000010.11:g.3118804G>T, NC_000010.10:g.3160996G>T, NG_051598.1:g.56331G>T, NM_002627.5:c.1465G>T, NM_002627.4:c.1465G>T, NM_001323072.2:c.1351G>T, NM_001323072.1:c.1351G>T, NM_001242339.2:c.1441G>T, NM_001242339.1:c.1441G>T, NM_001323071.2:c.1351G>T, NM_001323071.1:c.1351G>T, NM_001323069.2:c.958G>T, NM_001323069.1:c.958G>T, NM_001323067.2:c.1384G>T, NM_001323067.1:c.1384G>T, NM_001323068.2:c.1465G>T, NM_001323068.1:c.1465G>T, NM_001410880.1:c.1465G>T, NM_001345944.1:c.1351G>T, NM_001323074.1:c.817G>T, NM_001323070.1:c.817G>T, NM_001323073.1:c.817G>T, XM_005252465.5:c.1465G>T, XM_005252466.5:c.1465G>T, XM_005252466.4:c.1465G>T, XM_005252466.3:c.1465G>T, XM_005252466.2:c.1465G>T, XM_005252466.1:c.1465G>T, XM_006717449.2:c.1351G>T, XM_006717449.1:c.1351G>T, XM_047425350.1:c.1351G>T, NP_002618.1:p.Glu489Ter, NP_001310001.1:p.Glu451Ter, NP_001229268.1:p.Glu481Ter, NP_001310000.1:p.Glu451Ter, NP_001309998.1:p.Glu320Ter, NP_001309996.1:p.Glu462Ter, NP_001309997.1:p.Glu489Ter, NP_001332873.1:p.Glu451Ter, NP_001310003.1:p.Glu273Ter, NP_001309999.1:p.Glu273Ter, NP_001310002.1:p.Glu273Ter, XP_005252522.1:p.Glu489Ter, XP_005252523.1:p.Glu489Ter, XP_006717512.1:p.Glu451Ter, XP_047281306.1:p.Glu451Ter

                                16.

                                rs1475546546 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  10:3105157 (GRCh38)
                                  10:3147349 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:3105156:T:C
                                  Gene:
                                  PFKP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1475442390 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:3136487 (GRCh38)
                                    10:3178679 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:3136486:C:T
                                    Gene:
                                    PFKP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000010.11:g.3136487C>T, NC_000010.10:g.3178679C>T, NG_051598.1:g.74014C>T, NM_002627.5:c.2263C>T, NM_002627.4:c.2263C>T, NM_001323072.2:c.2149C>T, NM_001323072.1:c.2149C>T, NM_001242339.2:c.2239C>T, NM_001242339.1:c.2239C>T, NM_001323071.2:c.2149C>T, NM_001323071.1:c.2149C>T, NM_001323069.2:c.1756C>T, NM_001323069.1:c.1756C>T, NM_001323067.2:c.2182C>T, NM_001323067.1:c.2182C>T, NM_001323068.2:c.2110C>T, NM_001323068.1:c.2110C>T, NM_001410880.1:c.2416C>T, NM_001345944.1:c.2149C>T, NM_001323074.1:c.1615C>T, NM_001323070.1:c.1462C>T, NM_001323073.1:c.1615C>T, NG_052908.1:g.41355G>A, XM_005252465.5:c.2416C>T, XM_005252466.5:c.2263C>T, XM_005252466.4:c.2263C>T, XM_005252466.3:c.2263C>T, XM_005252466.2:c.2263C>T, XM_005252466.1:c.2263C>T, XM_006717449.2:c.2302C>T, XM_006717449.1:c.2302C>T, XM_047425350.1:c.2302C>T, NP_002618.1:p.Arg755Trp, NP_001310001.1:p.Arg717Trp, NP_001229268.1:p.Arg747Trp, NP_001310000.1:p.Arg717Trp, NP_001309998.1:p.Arg586Trp, NP_001309996.1:p.Arg728Trp, NP_001309997.1:p.Arg704Trp, NP_001332873.1:p.Arg717Trp, NP_001310003.1:p.Arg539Trp, NP_001309999.1:p.Arg488Trp, NP_001310002.1:p.Arg539Trp, XP_005252522.1:p.Arg806Trp, XP_005252523.1:p.Arg755Trp, XP_006717512.1:p.Arg768Trp, XP_047281306.1:p.Arg768Trp

                                    18.

                                    rs1475350741 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      10:3118782 (GRCh38)
                                      10:3160974 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:3118781:C:
                                      Gene:
                                      PFKP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.3118782del, NC_000010.10:g.3160974del, NG_051598.1:g.56309del, NM_002627.5:c.1443del, NM_002627.4:c.1443del, NM_001323072.2:c.1329del, NM_001323072.1:c.1329del, NM_001242339.2:c.1419del, NM_001242339.1:c.1419del, NM_001323071.2:c.1329del, NM_001323071.1:c.1329del, NM_001323069.2:c.936del, NM_001323069.1:c.936del, NM_001323067.2:c.1362del, NM_001323067.1:c.1362del, NM_001323068.2:c.1443del, NM_001323068.1:c.1443del, NM_001410880.1:c.1443del, NM_001345944.1:c.1329del, NM_001323074.1:c.795del, NM_001323070.1:c.795del, NM_001323073.1:c.795del, XM_005252465.5:c.1443del, XM_005252466.5:c.1443del, XM_005252466.4:c.1443del, XM_005252466.3:c.1443del, XM_005252466.2:c.1443del, XM_005252466.1:c.1443del, XM_006717449.2:c.1329del, XM_006717449.1:c.1329del, XM_047425350.1:c.1329del, NP_002618.1:p.Val482fs, NP_001310001.1:p.Val444fs, NP_001229268.1:p.Val474fs, NP_001310000.1:p.Val444fs, NP_001309998.1:p.Val313fs, NP_001309996.1:p.Val455fs, NP_001309997.1:p.Val482fs, NP_001332873.1:p.Val444fs, NP_001310003.1:p.Val266fs, NP_001309999.1:p.Val266fs, NP_001310002.1:p.Val266fs, XP_005252522.1:p.Val482fs, XP_005252523.1:p.Val482fs, XP_006717512.1:p.Val444fs, XP_047281306.1:p.Val444fs

                                      19.

                                      rs1475085657 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:3113457 (GRCh38)
                                        10:3155649 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:3113456:T:C
                                        Gene:
                                        PFKP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.3113457T>C, NC_000010.10:g.3155649T>C, NG_051598.1:g.50984T>C, NM_002627.5:c.1310T>C, NM_002627.4:c.1310T>C, NM_001323072.2:c.1196T>C, NM_001323072.1:c.1196T>C, NM_001242339.2:c.1286T>C, NM_001242339.1:c.1286T>C, NM_001323071.2:c.1196T>C, NM_001323071.1:c.1196T>C, NM_001323069.2:c.803T>C, NM_001323069.1:c.803T>C, NM_001323067.2:c.1229T>C, NM_001323067.1:c.1229T>C, NM_001323068.2:c.1310T>C, NM_001323068.1:c.1310T>C, NM_001410880.1:c.1310T>C, NM_001345944.1:c.1196T>C, NM_001323074.1:c.662T>C, NM_001323070.1:c.662T>C, NM_001323073.1:c.662T>C, XM_005252465.5:c.1310T>C, XM_005252466.5:c.1310T>C, XM_005252466.4:c.1310T>C, XM_005252466.3:c.1310T>C, XM_005252466.2:c.1310T>C, XM_005252466.1:c.1310T>C, XM_006717449.2:c.1196T>C, XM_006717449.1:c.1196T>C, XM_047425350.1:c.1196T>C, NP_002618.1:p.Ile437Thr, NP_001310001.1:p.Ile399Thr, NP_001229268.1:p.Ile429Thr, NP_001310000.1:p.Ile399Thr, NP_001309998.1:p.Ile268Thr, NP_001309996.1:p.Ile410Thr, NP_001309997.1:p.Ile437Thr, NP_001332873.1:p.Ile399Thr, NP_001310003.1:p.Ile221Thr, NP_001309999.1:p.Ile221Thr, NP_001310002.1:p.Ile221Thr, XP_005252522.1:p.Ile437Thr, XP_005252523.1:p.Ile437Thr, XP_006717512.1:p.Ile399Thr, XP_047281306.1:p.Ile399Thr

                                        20.

                                        rs1474366521 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          10:3119920 (GRCh38)
                                          10:3162112 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:3119919:C:A
                                          Gene:
                                          PFKP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.3119920C>A, NC_000010.10:g.3162112C>A, NG_051598.1:g.57447C>A, NM_002627.5:c.1559C>A, NM_002627.4:c.1559C>A, NM_001323072.2:c.1445C>A, NM_001323072.1:c.1445C>A, NM_001242339.2:c.1535C>A, NM_001242339.1:c.1535C>A, NM_001323071.2:c.1445C>A, NM_001323071.1:c.1445C>A, NM_001323069.2:c.1052C>A, NM_001323069.1:c.1052C>A, NM_001323067.2:c.1478C>A, NM_001323067.1:c.1478C>A, NM_001410880.1:c.1559C>A, NM_001345944.1:c.1445C>A, NM_001323074.1:c.911C>A, NM_001323073.1:c.911C>A, XM_005252465.5:c.1559C>A, XM_006717449.2:c.1445C>A, XM_006717449.1:c.1445C>A, XM_047425350.1:c.1445C>A, NP_002618.1:p.Ala520Asp, NP_001310001.1:p.Ala482Asp, NP_001229268.1:p.Ala512Asp, NP_001310000.1:p.Ala482Asp, NP_001309998.1:p.Ala351Asp, NP_001309996.1:p.Ala493Asp, NP_001332873.1:p.Ala482Asp, NP_001310003.1:p.Ala304Asp, NP_001310002.1:p.Ala304Asp, XP_005252522.1:p.Ala520Asp, XP_006717512.1:p.Ala482Asp, XP_047281306.1:p.Ala482Asp

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