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Items: 1 to 20 of 144

1.

rs1489579736 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:200885723 (GRCh38)
    2:201750446 (GRCh37)
    Canonical SPDI:
    NC_000002.12:200885722:C:T
    Gene:
    PPIL3 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.200885723C>T, NC_000002.11:g.201750446C>T, XM_005246652.6:c.53G>A, XM_005246652.5:c.53G>A, XM_005246652.4:c.53G>A, XM_005246652.3:c.53G>A, XM_005246652.2:c.53G>A, XM_005246652.1:c.53G>A, NM_032472.4:c.53G>A, NM_032472.3:c.53G>A, XM_005246651.4:c.53G>A, XM_005246651.3:c.53G>A, XM_005246651.2:c.53G>A, XM_005246651.1:c.53G>A, XM_017004354.3:c.53G>A, XM_017004354.2:c.53G>A, XM_017004354.1:c.53G>A, XM_017004355.3:c.53G>A, XM_017004355.2:c.53G>A, XM_017004355.1:c.53G>A, XM_017004356.3:c.53G>A, XM_017004356.2:c.53G>A, XM_017004356.1:c.53G>A, XM_011511358.3:c.53G>A, XM_011511358.2:c.53G>A, XM_011511358.1:c.53G>A, NM_130906.3:c.53G>A, NM_130906.2:c.53G>A, XM_017004352.2:c.53G>A, XM_017004352.1:c.53G>A, XM_017004353.2:c.53G>A, XM_017004353.1:c.53G>A, NM_131916.1:c.53G>A, XP_005246709.1:p.Cys18Tyr, NP_115861.1:p.Cys18Tyr, XP_005246708.1:p.Cys18Tyr, XP_016859843.1:p.Cys18Tyr, XP_016859844.1:p.Cys18Tyr, XP_016859845.1:p.Cys18Tyr, XP_011509660.1:p.Cys18Tyr, NP_570981.1:p.Cys18Tyr, XP_016859841.1:p.Cys18Tyr, XP_016859842.1:p.Cys18Tyr

    2.

    rs1481163246 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      2:200871457 (GRCh38)
      2:201736180 (GRCh37)
      Canonical SPDI:
      NC_000002.12:200871456:G:A
      Gene:
      PPIL3 (Varview)
      Functional Consequence:
      stop_gained,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000002.12:g.200871457G>A, NC_000002.11:g.201736180G>A, XM_005246652.6:c.424C>T, XM_005246652.5:c.424C>T, XM_005246652.4:c.424C>T, XM_005246652.3:c.424C>T, XM_005246652.2:c.424C>T, XM_005246652.1:c.424C>T, NM_032472.4:c.436C>T, NM_032472.3:c.436C>T, XM_005246651.4:c.436C>T, XM_005246651.3:c.436C>T, XM_005246651.2:c.436C>T, XM_005246651.1:c.436C>T, XM_017004354.3:c.436C>T, XM_017004354.2:c.436C>T, XM_017004354.1:c.436C>T, XM_017004355.3:c.424C>T, XM_017004355.2:c.424C>T, XM_017004355.1:c.424C>T, XM_017004356.3:c.424C>T, XM_017004356.2:c.424C>T, XM_017004356.1:c.424C>T, XM_011511358.3:c.424C>T, XM_011511358.2:c.424C>T, XM_011511358.1:c.424C>T, NM_130906.3:c.424C>T, NM_130906.2:c.424C>T, XM_017004352.2:c.436C>T, XM_017004352.1:c.436C>T, XM_017004353.2:c.436C>T, XM_017004353.1:c.436C>T, NM_131916.1:c.424C>T, XP_005246709.1:p.Arg142Ter, NP_115861.1:p.Arg146Ter, XP_005246708.1:p.Arg146Ter, XP_016859843.1:p.Arg146Ter, XP_016859844.1:p.Arg142Ter, XP_016859845.1:p.Arg142Ter, XP_011509660.1:p.Arg142Ter, NP_570981.1:p.Arg142Ter, XP_016859841.1:p.Arg146Ter, XP_016859842.1:p.Arg146Ter

      3.

      rs1476904072 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:200871478 (GRCh38)
        2:201736201 (GRCh37)
        Canonical SPDI:
        NC_000002.12:200871477:G:A
        Gene:
        PPIL3 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.200871478G>A, NC_000002.11:g.201736201G>A, XM_005246652.6:c.403C>T, XM_005246652.5:c.403C>T, XM_005246652.4:c.403C>T, XM_005246652.3:c.403C>T, XM_005246652.2:c.403C>T, XM_005246652.1:c.403C>T, NM_032472.4:c.415C>T, NM_032472.3:c.415C>T, XM_005246651.4:c.415C>T, XM_005246651.3:c.415C>T, XM_005246651.2:c.415C>T, XM_005246651.1:c.415C>T, XM_017004354.3:c.415C>T, XM_017004354.2:c.415C>T, XM_017004354.1:c.415C>T, XM_017004355.3:c.403C>T, XM_017004355.2:c.403C>T, XM_017004355.1:c.403C>T, XM_017004356.3:c.403C>T, XM_017004356.2:c.403C>T, XM_017004356.1:c.403C>T, XM_011511358.3:c.403C>T, XM_011511358.2:c.403C>T, XM_011511358.1:c.403C>T, NM_130906.3:c.403C>T, NM_130906.2:c.403C>T, XM_017004352.2:c.415C>T, XM_017004352.1:c.415C>T, XM_017004353.2:c.415C>T, XM_017004353.1:c.415C>T, NM_131916.1:c.403C>T, XP_005246709.1:p.Pro135Ser, NP_115861.1:p.Pro139Ser, XP_005246708.1:p.Pro139Ser, XP_016859843.1:p.Pro139Ser, XP_016859844.1:p.Pro135Ser, XP_016859845.1:p.Pro135Ser, XP_011509660.1:p.Pro135Ser, NP_570981.1:p.Pro135Ser, XP_016859841.1:p.Pro139Ser, XP_016859842.1:p.Pro139Ser

        4.

        rs1476441808 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          2:200871403 (GRCh38)
          2:201736126 (GRCh37)
          Canonical SPDI:
          NC_000002.12:200871402:C:A,NC_000002.12:200871402:C:G
          Gene:
          PPIL3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.200871403C>A, NC_000002.12:g.200871403C>G, NC_000002.11:g.201736126C>A, NC_000002.11:g.201736126C>G, XM_005246652.6:c.478G>T, XM_005246652.6:c.478G>C, XM_005246652.5:c.478G>T, XM_005246652.5:c.478G>C, XM_005246652.4:c.478G>T, XM_005246652.4:c.478G>C, XM_005246652.3:c.478G>T, XM_005246652.3:c.478G>C, XM_005246652.2:c.478G>T, XM_005246652.2:c.478G>C, XM_005246652.1:c.478G>T, XM_005246652.1:c.478G>C, NM_032472.4:c.490G>T, NM_032472.4:c.490G>C, NM_032472.3:c.490G>T, NM_032472.3:c.490G>C, XM_005246651.4:c.490G>T, XM_005246651.4:c.490G>C, XM_005246651.3:c.490G>T, XM_005246651.3:c.490G>C, XM_005246651.2:c.490G>T, XM_005246651.2:c.490G>C, XM_005246651.1:c.490G>T, XM_005246651.1:c.490G>C, XM_017004354.3:c.490G>T, XM_017004354.3:c.490G>C, XM_017004354.2:c.490G>T, XM_017004354.2:c.490G>C, XM_017004354.1:c.490G>T, XM_017004354.1:c.490G>C, XM_017004355.3:c.478G>T, XM_017004355.3:c.478G>C, XM_017004355.2:c.478G>T, XM_017004355.2:c.478G>C, XM_017004355.1:c.478G>T, XM_017004355.1:c.478G>C, XM_017004356.3:c.478G>T, XM_017004356.3:c.478G>C, XM_017004356.2:c.478G>T, XM_017004356.2:c.478G>C, XM_017004356.1:c.478G>T, XM_017004356.1:c.478G>C, XM_011511358.3:c.478G>T, XM_011511358.3:c.478G>C, XM_011511358.2:c.478G>T, XM_011511358.2:c.478G>C, XM_011511358.1:c.478G>T, XM_011511358.1:c.478G>C, NM_130906.3:c.478G>T, NM_130906.3:c.478G>C, NM_130906.2:c.478G>T, NM_130906.2:c.478G>C, XM_017004352.2:c.490G>T, XM_017004352.2:c.490G>C, XM_017004352.1:c.490G>T, XM_017004352.1:c.490G>C, XM_017004353.2:c.490G>T, XM_017004353.2:c.490G>C, XM_017004353.1:c.490G>T, XM_017004353.1:c.490G>C, NM_131916.1:c.478G>T, NM_131916.1:c.478G>C, XP_005246709.1:p.Ala160Ser, XP_005246709.1:p.Ala160Pro, NP_115861.1:p.Ala164Ser, NP_115861.1:p.Ala164Pro, XP_005246708.1:p.Ala164Ser, XP_005246708.1:p.Ala164Pro, XP_016859843.1:p.Ala164Ser, XP_016859843.1:p.Ala164Pro, XP_016859844.1:p.Ala160Ser, XP_016859844.1:p.Ala160Pro, XP_016859845.1:p.Ala160Ser, XP_016859845.1:p.Ala160Pro, XP_011509660.1:p.Ala160Ser, XP_011509660.1:p.Ala160Pro, NP_570981.1:p.Ala160Ser, NP_570981.1:p.Ala160Pro, XP_016859841.1:p.Ala164Ser, XP_016859841.1:p.Ala164Pro, XP_016859842.1:p.Ala164Ser, XP_016859842.1:p.Ala164Pro

          5.

          rs1464019496 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:200881435 (GRCh38)
            2:201746158 (GRCh37)
            Canonical SPDI:
            NC_000002.12:200881434:T:C
            Gene:
            PPIL3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.200881435T>C, NC_000002.11:g.201746158T>C, XM_005246652.6:c.226A>G, XM_005246652.5:c.226A>G, XM_005246652.4:c.226A>G, XM_005246652.3:c.226A>G, XM_005246652.2:c.226A>G, XM_005246652.1:c.226A>G, NM_032472.4:c.238A>G, NM_032472.3:c.238A>G, XM_005246651.4:c.238A>G, XM_005246651.3:c.238A>G, XM_005246651.2:c.238A>G, XM_005246651.1:c.238A>G, XM_017004354.3:c.238A>G, XM_017004354.2:c.238A>G, XM_017004354.1:c.238A>G, XM_017004355.3:c.226A>G, XM_017004355.2:c.226A>G, XM_017004355.1:c.226A>G, XM_017004356.3:c.226A>G, XM_017004356.2:c.226A>G, XM_017004356.1:c.226A>G, XM_011511358.3:c.226A>G, XM_011511358.2:c.226A>G, XM_011511358.1:c.226A>G, NM_130906.3:c.226A>G, NM_130906.2:c.226A>G, XM_017004352.2:c.238A>G, XM_017004352.1:c.238A>G, XM_017004353.2:c.238A>G, XM_017004353.1:c.238A>G, NM_131916.1:c.226A>G, XP_005246709.1:p.Ser76Gly, NP_115861.1:p.Ser80Gly, XP_005246708.1:p.Ser80Gly, XP_016859843.1:p.Ser80Gly, XP_016859844.1:p.Ser76Gly, XP_016859845.1:p.Ser76Gly, XP_011509660.1:p.Ser76Gly, NP_570981.1:p.Ser76Gly, XP_016859841.1:p.Ser80Gly, XP_016859842.1:p.Ser80Gly

            6.

            rs1459742859 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              2:200876966 (GRCh38)
              2:201741689 (GRCh37)
              Canonical SPDI:
              NC_000002.12:200876965:G:C
              Gene:
              PPIL3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000019/5 (TOPMED)
              HGVS:
              NC_000002.12:g.200876966G>C, NC_000002.11:g.201741689G>C, XM_005246652.6:c.312C>G, XM_005246652.5:c.312C>G, XM_005246652.4:c.312C>G, XM_005246652.3:c.312C>G, XM_005246652.2:c.312C>G, XM_005246652.1:c.312C>G, NM_032472.4:c.324C>G, NM_032472.3:c.324C>G, XM_005246651.4:c.324C>G, XM_005246651.3:c.324C>G, XM_005246651.2:c.324C>G, XM_005246651.1:c.324C>G, XM_017004354.3:c.324C>G, XM_017004354.2:c.324C>G, XM_017004354.1:c.324C>G, XM_017004355.3:c.312C>G, XM_017004355.2:c.312C>G, XM_017004355.1:c.312C>G, XM_017004356.3:c.312C>G, XM_017004356.2:c.312C>G, XM_017004356.1:c.312C>G, XM_011511358.3:c.312C>G, XM_011511358.2:c.312C>G, XM_011511358.1:c.312C>G, NM_130906.3:c.312C>G, NM_130906.2:c.312C>G, XM_017004352.2:c.324C>G, XM_017004352.1:c.324C>G, XM_017004353.2:c.324C>G, XM_017004353.1:c.324C>G, NM_131916.1:c.312C>G

              7.

              rs1452219812 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:200876923 (GRCh38)
                2:201741646 (GRCh37)
                Canonical SPDI:
                NC_000002.12:200876922:C:T
                Gene:
                PPIL3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000002.12:g.200876923C>T, NC_000002.11:g.201741646C>T, XM_005246652.6:c.355G>A, XM_005246652.5:c.355G>A, XM_005246652.4:c.355G>A, XM_005246652.3:c.355G>A, XM_005246652.2:c.355G>A, XM_005246652.1:c.355G>A, NM_032472.4:c.367G>A, NM_032472.3:c.367G>A, XM_005246651.4:c.367G>A, XM_005246651.3:c.367G>A, XM_005246651.2:c.367G>A, XM_005246651.1:c.367G>A, XM_017004354.3:c.367G>A, XM_017004354.2:c.367G>A, XM_017004354.1:c.367G>A, XM_017004355.3:c.355G>A, XM_017004355.2:c.355G>A, XM_017004355.1:c.355G>A, XM_017004356.3:c.355G>A, XM_017004356.2:c.355G>A, XM_017004356.1:c.355G>A, XM_011511358.3:c.355G>A, XM_011511358.2:c.355G>A, XM_011511358.1:c.355G>A, NM_130906.3:c.355G>A, NM_130906.2:c.355G>A, XM_017004352.2:c.367G>A, XM_017004352.1:c.367G>A, XM_017004353.2:c.367G>A, XM_017004353.1:c.367G>A, NM_131916.1:c.355G>A, XP_005246709.1:p.Gly119Arg, NP_115861.1:p.Gly123Arg, XP_005246708.1:p.Gly123Arg, XP_016859843.1:p.Gly123Arg, XP_016859844.1:p.Gly119Arg, XP_016859845.1:p.Gly119Arg, XP_011509660.1:p.Gly119Arg, NP_570981.1:p.Gly119Arg, XP_016859841.1:p.Gly123Arg, XP_016859842.1:p.Gly123Arg

                8.

                rs1446049750 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:200871417 (GRCh38)
                  2:201736140 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:200871416:T:C
                  Gene:
                  PPIL3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000224/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000223/1 (Estonian)
                  HGVS:
                  NC_000002.12:g.200871417T>C, NC_000002.11:g.201736140T>C, XM_005246652.6:c.464A>G, XM_005246652.5:c.464A>G, XM_005246652.4:c.464A>G, XM_005246652.3:c.464A>G, XM_005246652.2:c.464A>G, XM_005246652.1:c.464A>G, NM_032472.4:c.476A>G, NM_032472.3:c.476A>G, XM_005246651.4:c.476A>G, XM_005246651.3:c.476A>G, XM_005246651.2:c.476A>G, XM_005246651.1:c.476A>G, XM_017004354.3:c.476A>G, XM_017004354.2:c.476A>G, XM_017004354.1:c.476A>G, XM_017004355.3:c.464A>G, XM_017004355.2:c.464A>G, XM_017004355.1:c.464A>G, XM_017004356.3:c.464A>G, XM_017004356.2:c.464A>G, XM_017004356.1:c.464A>G, XM_011511358.3:c.464A>G, XM_011511358.2:c.464A>G, XM_011511358.1:c.464A>G, NM_130906.3:c.464A>G, NM_130906.2:c.464A>G, XM_017004352.2:c.476A>G, XM_017004352.1:c.476A>G, XM_017004353.2:c.476A>G, XM_017004353.1:c.476A>G, NM_131916.1:c.464A>G, XP_005246709.1:p.His155Arg, NP_115861.1:p.His159Arg, XP_005246708.1:p.His159Arg, XP_016859843.1:p.His159Arg, XP_016859844.1:p.His155Arg, XP_016859845.1:p.His155Arg, XP_011509660.1:p.His155Arg, NP_570981.1:p.His155Arg, XP_016859841.1:p.His159Arg, XP_016859842.1:p.His159Arg

                  9.

                  rs1435567728 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:200882425 (GRCh38)
                    2:201747148 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:200882424:G:A
                    Gene:
                    PPIL3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000108/2 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    A=0.000446/2 (Estonian)
                    HGVS:

                    10.

                    rs1435077580 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:200885725 (GRCh38)
                      2:201750448 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:200885724:G:T
                      Gene:
                      PPIL3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      NC_000002.12:g.200885725G>T, NC_000002.11:g.201750448G>T, XM_005246652.6:c.51C>A, XM_005246652.5:c.51C>A, XM_005246652.4:c.51C>A, XM_005246652.3:c.51C>A, XM_005246652.2:c.51C>A, XM_005246652.1:c.51C>A, NM_032472.4:c.51C>A, NM_032472.3:c.51C>A, XM_005246651.4:c.51C>A, XM_005246651.3:c.51C>A, XM_005246651.2:c.51C>A, XM_005246651.1:c.51C>A, XM_017004354.3:c.51C>A, XM_017004354.2:c.51C>A, XM_017004354.1:c.51C>A, XM_017004355.3:c.51C>A, XM_017004355.2:c.51C>A, XM_017004355.1:c.51C>A, XM_017004356.3:c.51C>A, XM_017004356.2:c.51C>A, XM_017004356.1:c.51C>A, XM_011511358.3:c.51C>A, XM_011511358.2:c.51C>A, XM_011511358.1:c.51C>A, NM_130906.3:c.51C>A, NM_130906.2:c.51C>A, XM_017004352.2:c.51C>A, XM_017004352.1:c.51C>A, XM_017004353.2:c.51C>A, XM_017004353.1:c.51C>A, NM_131916.1:c.51C>A, XP_005246709.1:p.Phe17Leu, NP_115861.1:p.Phe17Leu, XP_005246708.1:p.Phe17Leu, XP_016859843.1:p.Phe17Leu, XP_016859844.1:p.Phe17Leu, XP_016859845.1:p.Phe17Leu, XP_011509660.1:p.Phe17Leu, NP_570981.1:p.Phe17Leu, XP_016859841.1:p.Phe17Leu, XP_016859842.1:p.Phe17Leu

                      11.

                      rs1434992594 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:200871421 (GRCh38)
                        2:201736144 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:200871420:T:C
                        Gene:
                        PPIL3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.200871421T>C, NC_000002.11:g.201736144T>C, XM_005246652.6:c.460A>G, XM_005246652.5:c.460A>G, XM_005246652.4:c.460A>G, XM_005246652.3:c.460A>G, XM_005246652.2:c.460A>G, XM_005246652.1:c.460A>G, NM_032472.4:c.472A>G, NM_032472.3:c.472A>G, XM_005246651.4:c.472A>G, XM_005246651.3:c.472A>G, XM_005246651.2:c.472A>G, XM_005246651.1:c.472A>G, XM_017004354.3:c.472A>G, XM_017004354.2:c.472A>G, XM_017004354.1:c.472A>G, XM_017004355.3:c.460A>G, XM_017004355.2:c.460A>G, XM_017004355.1:c.460A>G, XM_017004356.3:c.460A>G, XM_017004356.2:c.460A>G, XM_017004356.1:c.460A>G, XM_011511358.3:c.460A>G, XM_011511358.2:c.460A>G, XM_011511358.1:c.460A>G, NM_130906.3:c.460A>G, NM_130906.2:c.460A>G, XM_017004352.2:c.472A>G, XM_017004352.1:c.472A>G, XM_017004353.2:c.472A>G, XM_017004353.1:c.472A>G, NM_131916.1:c.460A>G, XP_005246709.1:p.Ile154Val, NP_115861.1:p.Ile158Val, XP_005246708.1:p.Ile158Val, XP_016859843.1:p.Ile158Val, XP_016859844.1:p.Ile154Val, XP_016859845.1:p.Ile154Val, XP_011509660.1:p.Ile154Val, NP_570981.1:p.Ile154Val, XP_016859841.1:p.Ile158Val, XP_016859842.1:p.Ile158Val

                        12.

                        rs1432276966 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          2:200877000 (GRCh38)
                          2:201741723 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:200876999:C:A
                          Gene:
                          PPIL3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000008/2 (GnomAD_exomes)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000002.12:g.200877000C>A, NC_000002.11:g.201741723C>A, XM_005246652.6:c.278G>T, XM_005246652.5:c.278G>T, XM_005246652.4:c.278G>T, XM_005246652.3:c.278G>T, XM_005246652.2:c.278G>T, XM_005246652.1:c.278G>T, NM_032472.4:c.290G>T, NM_032472.3:c.290G>T, XM_005246651.4:c.290G>T, XM_005246651.3:c.290G>T, XM_005246651.2:c.290G>T, XM_005246651.1:c.290G>T, XM_017004354.3:c.290G>T, XM_017004354.2:c.290G>T, XM_017004354.1:c.290G>T, XM_017004355.3:c.278G>T, XM_017004355.2:c.278G>T, XM_017004355.1:c.278G>T, XM_017004356.3:c.278G>T, XM_017004356.2:c.278G>T, XM_017004356.1:c.278G>T, XM_011511358.3:c.278G>T, XM_011511358.2:c.278G>T, XM_011511358.1:c.278G>T, NM_130906.3:c.278G>T, NM_130906.2:c.278G>T, XM_017004352.2:c.290G>T, XM_017004352.1:c.290G>T, XM_017004353.2:c.290G>T, XM_017004353.1:c.290G>T, NM_131916.1:c.278G>T, XP_005246709.1:p.Gly93Val, NP_115861.1:p.Gly97Val, XP_005246708.1:p.Gly97Val, XP_016859843.1:p.Gly97Val, XP_016859844.1:p.Gly93Val, XP_016859845.1:p.Gly93Val, XP_011509660.1:p.Gly93Val, NP_570981.1:p.Gly93Val, XP_016859841.1:p.Gly97Val, XP_016859842.1:p.Gly97Val

                          13.

                          rs1428733737 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:200881446 (GRCh38)
                            2:201746169 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:200881445:T:C
                            Gene:
                            PPIL3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000111/1 (ALFA)
                            C=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.200881446T>C, NC_000002.11:g.201746169T>C, XM_005246652.6:c.215A>G, XM_005246652.5:c.215A>G, XM_005246652.4:c.215A>G, XM_005246652.3:c.215A>G, XM_005246652.2:c.215A>G, XM_005246652.1:c.215A>G, NM_032472.4:c.227A>G, NM_032472.3:c.227A>G, XM_005246651.4:c.227A>G, XM_005246651.3:c.227A>G, XM_005246651.2:c.227A>G, XM_005246651.1:c.227A>G, XM_017004354.3:c.227A>G, XM_017004354.2:c.227A>G, XM_017004354.1:c.227A>G, XM_017004355.3:c.215A>G, XM_017004355.2:c.215A>G, XM_017004355.1:c.215A>G, XM_017004356.3:c.215A>G, XM_017004356.2:c.215A>G, XM_017004356.1:c.215A>G, XM_011511358.3:c.215A>G, XM_011511358.2:c.215A>G, XM_011511358.1:c.215A>G, NM_130906.3:c.215A>G, NM_130906.2:c.215A>G, XM_017004352.2:c.227A>G, XM_017004352.1:c.227A>G, XM_017004353.2:c.227A>G, XM_017004353.1:c.227A>G, NM_131916.1:c.215A>G, XP_005246709.1:p.Glu72Gly, NP_115861.1:p.Glu76Gly, XP_005246708.1:p.Glu76Gly, XP_016859843.1:p.Glu76Gly, XP_016859844.1:p.Glu72Gly, XP_016859845.1:p.Glu72Gly, XP_011509660.1:p.Glu72Gly, NP_570981.1:p.Glu72Gly, XP_016859841.1:p.Glu76Gly, XP_016859842.1:p.Glu76Gly

                            14.

                            rs1428596717 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:200881470 (GRCh38)
                              2:201746193 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:200881469:T:C
                              Gene:
                              PPIL3 (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=0.000007/1 (GnomAD)
                              C=0.000019/5 (TOPMED)
                              HGVS:
                              NC_000002.12:g.200881470T>C, NC_000002.11:g.201746193T>C, XM_005246652.6:c.191A>G, XM_005246652.5:c.191A>G, XM_005246652.4:c.191A>G, XM_005246652.3:c.191A>G, XM_005246652.2:c.191A>G, XM_005246652.1:c.191A>G, NM_032472.4:c.203A>G, NM_032472.3:c.203A>G, XM_005246651.4:c.203A>G, XM_005246651.3:c.203A>G, XM_005246651.2:c.203A>G, XM_005246651.1:c.203A>G, XM_017004354.3:c.203A>G, XM_017004354.2:c.203A>G, XM_017004354.1:c.203A>G, XM_017004355.3:c.191A>G, XM_017004355.2:c.191A>G, XM_017004355.1:c.191A>G, XM_017004356.3:c.191A>G, XM_017004356.2:c.191A>G, XM_017004356.1:c.191A>G, XM_011511358.3:c.191A>G, XM_011511358.2:c.191A>G, XM_011511358.1:c.191A>G, NM_130906.3:c.191A>G, NM_130906.2:c.191A>G, XM_017004352.2:c.203A>G, XM_017004352.1:c.203A>G, XM_017004353.2:c.203A>G, XM_017004353.1:c.203A>G, NM_131916.1:c.191A>G, XP_005246709.1:p.Asn64Ser, NP_115861.1:p.Asn68Ser, XP_005246708.1:p.Asn68Ser, XP_016859843.1:p.Asn68Ser, XP_016859844.1:p.Asn64Ser, XP_016859845.1:p.Asn64Ser, XP_011509660.1:p.Asn64Ser, NP_570981.1:p.Asn64Ser, XP_016859841.1:p.Asn68Ser, XP_016859842.1:p.Asn68Ser

                              15.

                              rs1418951861 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:200871499 (GRCh38)
                                2:201736222 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:200871498:G:C
                                Gene:
                                PPIL3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000016/4 (GnomAD_exomes)
                                C=0.000019/5 (TOPMED)
                                C=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000002.12:g.200871499G>C, NC_000002.11:g.201736222G>C, XM_005246652.6:c.382C>G, XM_005246652.5:c.382C>G, XM_005246652.4:c.382C>G, XM_005246652.3:c.382C>G, XM_005246652.2:c.382C>G, XM_005246652.1:c.382C>G, NM_032472.4:c.394C>G, NM_032472.3:c.394C>G, XM_005246651.4:c.394C>G, XM_005246651.3:c.394C>G, XM_005246651.2:c.394C>G, XM_005246651.1:c.394C>G, XM_017004354.3:c.394C>G, XM_017004354.2:c.394C>G, XM_017004354.1:c.394C>G, XM_017004355.3:c.382C>G, XM_017004355.2:c.382C>G, XM_017004355.1:c.382C>G, XM_017004356.3:c.382C>G, XM_017004356.2:c.382C>G, XM_017004356.1:c.382C>G, XM_011511358.3:c.382C>G, XM_011511358.2:c.382C>G, XM_011511358.1:c.382C>G, NM_130906.3:c.382C>G, NM_130906.2:c.382C>G, XM_017004352.2:c.394C>G, XM_017004352.1:c.394C>G, XM_017004353.2:c.394C>G, XM_017004353.1:c.394C>G, NM_131916.1:c.382C>G, XP_005246709.1:p.Leu128Val, NP_115861.1:p.Leu132Val, XP_005246708.1:p.Leu132Val, XP_016859843.1:p.Leu132Val, XP_016859844.1:p.Leu128Val, XP_016859845.1:p.Leu128Val, XP_011509660.1:p.Leu128Val, NP_570981.1:p.Leu128Val, XP_016859841.1:p.Leu132Val, XP_016859842.1:p.Leu132Val

                                16.

                                rs1407964334 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:200876941 (GRCh38)
                                  2:201741664 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:200876940:T:C
                                  Gene:
                                  PPIL3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.200876941T>C, NC_000002.11:g.201741664T>C, XM_005246652.6:c.337A>G, XM_005246652.5:c.337A>G, XM_005246652.4:c.337A>G, XM_005246652.3:c.337A>G, XM_005246652.2:c.337A>G, XM_005246652.1:c.337A>G, NM_032472.4:c.349A>G, NM_032472.3:c.349A>G, XM_005246651.4:c.349A>G, XM_005246651.3:c.349A>G, XM_005246651.2:c.349A>G, XM_005246651.1:c.349A>G, XM_017004354.3:c.349A>G, XM_017004354.2:c.349A>G, XM_017004354.1:c.349A>G, XM_017004355.3:c.337A>G, XM_017004355.2:c.337A>G, XM_017004355.1:c.337A>G, XM_017004356.3:c.337A>G, XM_017004356.2:c.337A>G, XM_017004356.1:c.337A>G, XM_011511358.3:c.337A>G, XM_011511358.2:c.337A>G, XM_011511358.1:c.337A>G, NM_130906.3:c.337A>G, NM_130906.2:c.337A>G, XM_017004352.2:c.349A>G, XM_017004352.1:c.349A>G, XM_017004353.2:c.349A>G, XM_017004353.1:c.349A>G, NM_131916.1:c.337A>G, XP_005246709.1:p.Met113Val, NP_115861.1:p.Met117Val, XP_005246708.1:p.Met117Val, XP_016859843.1:p.Met117Val, XP_016859844.1:p.Met113Val, XP_016859845.1:p.Met113Val, XP_011509660.1:p.Met113Val, NP_570981.1:p.Met113Val, XP_016859841.1:p.Met117Val, XP_016859842.1:p.Met117Val

                                  17.

                                  rs1404718419 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:200871432 (GRCh38)
                                    2:201736155 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:200871431:T:C
                                    Gene:
                                    PPIL3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.200871432T>C, NC_000002.11:g.201736155T>C, XM_005246652.6:c.449A>G, XM_005246652.5:c.449A>G, XM_005246652.4:c.449A>G, XM_005246652.3:c.449A>G, XM_005246652.2:c.449A>G, XM_005246652.1:c.449A>G, NM_032472.4:c.461A>G, NM_032472.3:c.461A>G, XM_005246651.4:c.461A>G, XM_005246651.3:c.461A>G, XM_005246651.2:c.461A>G, XM_005246651.1:c.461A>G, XM_017004354.3:c.461A>G, XM_017004354.2:c.461A>G, XM_017004354.1:c.461A>G, XM_017004355.3:c.449A>G, XM_017004355.2:c.449A>G, XM_017004355.1:c.449A>G, XM_017004356.3:c.449A>G, XM_017004356.2:c.449A>G, XM_017004356.1:c.449A>G, XM_011511358.3:c.449A>G, XM_011511358.2:c.449A>G, XM_011511358.1:c.449A>G, NM_130906.3:c.449A>G, NM_130906.2:c.449A>G, XM_017004352.2:c.461A>G, XM_017004352.1:c.461A>G, XM_017004353.2:c.461A>G, XM_017004353.1:c.461A>G, NM_131916.1:c.449A>G, XP_005246709.1:p.Lys150Arg, NP_115861.1:p.Lys154Arg, XP_005246708.1:p.Lys154Arg, XP_016859843.1:p.Lys154Arg, XP_016859844.1:p.Lys150Arg, XP_016859845.1:p.Lys150Arg, XP_011509660.1:p.Lys150Arg, NP_570981.1:p.Lys150Arg, XP_016859841.1:p.Lys154Arg, XP_016859842.1:p.Lys154Arg

                                    18.

                                    rs1398294254 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      2:200877016 (GRCh38)
                                      2:201741739 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:200877015:A:C
                                      Gene:
                                      PPIL3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (GnomAD_exomes)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.200877016A>C, NC_000002.11:g.201741739A>C, XM_005246652.6:c.262T>G, XM_005246652.5:c.262T>G, XM_005246652.4:c.262T>G, XM_005246652.3:c.262T>G, XM_005246652.2:c.262T>G, XM_005246652.1:c.262T>G, NM_032472.4:c.274T>G, NM_032472.3:c.274T>G, XM_005246651.4:c.274T>G, XM_005246651.3:c.274T>G, XM_005246651.2:c.274T>G, XM_005246651.1:c.274T>G, XM_017004354.3:c.274T>G, XM_017004354.2:c.274T>G, XM_017004354.1:c.274T>G, XM_017004355.3:c.262T>G, XM_017004355.2:c.262T>G, XM_017004355.1:c.262T>G, XM_017004356.3:c.262T>G, XM_017004356.2:c.262T>G, XM_017004356.1:c.262T>G, XM_011511358.3:c.262T>G, XM_011511358.2:c.262T>G, XM_011511358.1:c.262T>G, NM_130906.3:c.262T>G, NM_130906.2:c.262T>G, XM_017004352.2:c.274T>G, XM_017004352.1:c.274T>G, XM_017004353.2:c.274T>G, XM_017004353.1:c.274T>G, NM_131916.1:c.262T>G, XP_005246709.1:p.Ser88Ala, NP_115861.1:p.Ser92Ala, XP_005246708.1:p.Ser92Ala, XP_016859843.1:p.Ser92Ala, XP_016859844.1:p.Ser88Ala, XP_016859845.1:p.Ser88Ala, XP_011509660.1:p.Ser88Ala, NP_570981.1:p.Ser88Ala, XP_016859841.1:p.Ser92Ala, XP_016859842.1:p.Ser92Ala

                                      19.

                                      rs1396656383 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:200882397 (GRCh38)
                                        2:201747120 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:200882396:G:C
                                        Gene:
                                        PPIL3 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1395758037 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          2:200871419 (GRCh38)
                                          2:201736142 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:200871418:A:C
                                          Gene:
                                          PPIL3 (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)
                                          HGVS:
                                          NC_000002.12:g.200871419A>C, NC_000002.11:g.201736142A>C, XM_005246652.6:c.462T>G, XM_005246652.5:c.462T>G, XM_005246652.4:c.462T>G, XM_005246652.3:c.462T>G, XM_005246652.2:c.462T>G, XM_005246652.1:c.462T>G, NM_032472.4:c.474T>G, NM_032472.3:c.474T>G, XM_005246651.4:c.474T>G, XM_005246651.3:c.474T>G, XM_005246651.2:c.474T>G, XM_005246651.1:c.474T>G, XM_017004354.3:c.474T>G, XM_017004354.2:c.474T>G, XM_017004354.1:c.474T>G, XM_017004355.3:c.462T>G, XM_017004355.2:c.462T>G, XM_017004355.1:c.462T>G, XM_017004356.3:c.462T>G, XM_017004356.2:c.462T>G, XM_017004356.1:c.462T>G, XM_011511358.3:c.462T>G, XM_011511358.2:c.462T>G, XM_011511358.1:c.462T>G, NM_130906.3:c.462T>G, NM_130906.2:c.462T>G, XM_017004352.2:c.474T>G, XM_017004352.1:c.474T>G, XM_017004353.2:c.474T>G, XM_017004353.1:c.474T>G, NM_131916.1:c.462T>G, XP_005246709.1:p.Ile154Met, NP_115861.1:p.Ile158Met, XP_005246708.1:p.Ile158Met, XP_016859843.1:p.Ile158Met, XP_016859844.1:p.Ile154Met, XP_016859845.1:p.Ile154Met, XP_011509660.1:p.Ile154Met, NP_570981.1:p.Ile154Met, XP_016859841.1:p.Ile158Met, XP_016859842.1:p.Ile158Met

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