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Items: 1 to 20 of 1000

1.

rs1490190940 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    7:106886170 (GRCh38)
    7:106526615 (GRCh37)
    Canonical SPDI:
    NC_000007.14:106886169:G:A,NC_000007.14:106886169:G:C,NC_000007.14:106886169:G:T
    Gene:
    PIK3CG (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.106886170G>A, NC_000007.14:g.106886170G>C, NC_000007.14:g.106886170G>T, NC_000007.13:g.106526615G>A, NC_000007.13:g.106526615G>C, NC_000007.13:g.106526615G>T, NG_050579.1:g.25893G>A, NG_050579.1:g.25893G>C, NG_050579.1:g.25893G>T, NM_002649.3:c.2908G>A, NM_002649.3:c.2908G>C, NM_002649.3:c.2908G>T, NM_002649.2:c.2908G>A, NM_002649.2:c.2908G>C, NM_002649.2:c.2908G>T, NM_001282426.2:c.2908G>A, NM_001282426.2:c.2908G>C, NM_001282426.2:c.2908G>T, NM_001282426.1:c.2908G>A, NM_001282426.1:c.2908G>C, NM_001282426.1:c.2908G>T, NM_001282427.2:c.2908G>A, NM_001282427.2:c.2908G>C, NM_001282427.2:c.2908G>T, NM_001282427.1:c.2908G>A, NM_001282427.1:c.2908G>C, NM_001282427.1:c.2908G>T, XM_005250443.4:c.2908G>A, XM_005250443.4:c.2908G>C, XM_005250443.4:c.2908G>T, XM_005250443.3:c.2908G>A, XM_005250443.3:c.2908G>C, XM_005250443.3:c.2908G>T, XM_005250443.2:c.2908G>A, XM_005250443.2:c.2908G>C, XM_005250443.2:c.2908G>T, XM_005250443.1:c.2908G>A, XM_005250443.1:c.2908G>C, XM_005250443.1:c.2908G>T, XM_017012328.2:c.2908G>A, XM_017012328.2:c.2908G>C, XM_017012328.2:c.2908G>T, XM_017012328.1:c.2908G>A, XM_017012328.1:c.2908G>C, XM_017012328.1:c.2908G>T, XM_011516316.2:c.2908G>A, XM_011516316.2:c.2908G>C, XM_011516316.2:c.2908G>T, XM_011516316.1:c.2908G>A, XM_011516316.1:c.2908G>C, XM_011516316.1:c.2908G>T, XM_047420479.1:c.2908G>A, XM_047420479.1:c.2908G>C, XM_047420479.1:c.2908G>T, NP_002640.2:p.Gly970Arg, NP_002640.2:p.Gly970Arg, NP_002640.2:p.Gly970Trp, NP_001269355.1:p.Gly970Arg, NP_001269355.1:p.Gly970Arg, NP_001269355.1:p.Gly970Trp, NP_001269356.1:p.Gly970Arg, NP_001269356.1:p.Gly970Arg, NP_001269356.1:p.Gly970Trp, XP_005250500.1:p.Gly970Arg, XP_005250500.1:p.Gly970Arg, XP_005250500.1:p.Gly970Trp, XP_016867817.1:p.Gly970Arg, XP_016867817.1:p.Gly970Arg, XP_016867817.1:p.Gly970Trp, XP_011514618.1:p.Gly970Arg, XP_011514618.1:p.Gly970Arg, XP_011514618.1:p.Gly970Trp, XP_047276435.1:p.Gly970Arg, XP_047276435.1:p.Gly970Arg, XP_047276435.1:p.Gly970Trp
    2.

    rs1490092398 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G,T [Show Flanks]
      Chromosome:
      7:106869255 (GRCh38)
      7:106509700 (GRCh37)
      Canonical SPDI:
      NC_000007.14:106869254:A:C,NC_000007.14:106869254:A:G,NC_000007.14:106869254:A:T
      Gene:
      PIK3CG (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000007.14:g.106869255A>C, NC_000007.14:g.106869255A>G, NC_000007.14:g.106869255A>T, NC_000007.13:g.106509700A>C, NC_000007.13:g.106509700A>G, NC_000007.13:g.106509700A>T, NG_050579.1:g.8978A>C, NG_050579.1:g.8978A>G, NG_050579.1:g.8978A>T, NM_002649.3:c.1694A>C, NM_002649.3:c.1694A>G, NM_002649.3:c.1694A>T, NM_002649.2:c.1694A>C, NM_002649.2:c.1694A>G, NM_002649.2:c.1694A>T, NM_001282426.2:c.1694A>C, NM_001282426.2:c.1694A>G, NM_001282426.2:c.1694A>T, NM_001282426.1:c.1694A>C, NM_001282426.1:c.1694A>G, NM_001282426.1:c.1694A>T, NM_001282427.2:c.1694A>C, NM_001282427.2:c.1694A>G, NM_001282427.2:c.1694A>T, NM_001282427.1:c.1694A>C, NM_001282427.1:c.1694A>G, NM_001282427.1:c.1694A>T, XM_005250443.4:c.1694A>C, XM_005250443.4:c.1694A>G, XM_005250443.4:c.1694A>T, XM_005250443.3:c.1694A>C, XM_005250443.3:c.1694A>G, XM_005250443.3:c.1694A>T, XM_005250443.2:c.1694A>C, XM_005250443.2:c.1694A>G, XM_005250443.2:c.1694A>T, XM_005250443.1:c.1694A>C, XM_005250443.1:c.1694A>G, XM_005250443.1:c.1694A>T, XM_017012328.2:c.1694A>C, XM_017012328.2:c.1694A>G, XM_017012328.2:c.1694A>T, XM_017012328.1:c.1694A>C, XM_017012328.1:c.1694A>G, XM_017012328.1:c.1694A>T, XM_011516316.2:c.1694A>C, XM_011516316.2:c.1694A>G, XM_011516316.2:c.1694A>T, XM_011516316.1:c.1694A>C, XM_011516316.1:c.1694A>G, XM_011516316.1:c.1694A>T, XM_011516317.2:c.1694A>C, XM_011516317.2:c.1694A>G, XM_011516317.2:c.1694A>T, XM_011516317.1:c.1694A>C, XM_011516317.1:c.1694A>G, XM_011516317.1:c.1694A>T, XM_047420479.1:c.1694A>C, XM_047420479.1:c.1694A>G, XM_047420479.1:c.1694A>T, XM_047420480.1:c.1694A>C, XM_047420480.1:c.1694A>G, XM_047420480.1:c.1694A>T, XM_047420481.1:c.1694A>C, XM_047420481.1:c.1694A>G, XM_047420481.1:c.1694A>T, NP_002640.2:p.Asn565Thr, NP_002640.2:p.Asn565Ser, NP_002640.2:p.Asn565Ile, NP_001269355.1:p.Asn565Thr, NP_001269355.1:p.Asn565Ser, NP_001269355.1:p.Asn565Ile, NP_001269356.1:p.Asn565Thr, NP_001269356.1:p.Asn565Ser, NP_001269356.1:p.Asn565Ile, XP_005250500.1:p.Asn565Thr, XP_005250500.1:p.Asn565Ser, XP_005250500.1:p.Asn565Ile, XP_016867817.1:p.Asn565Thr, XP_016867817.1:p.Asn565Ser, XP_016867817.1:p.Asn565Ile, XP_011514618.1:p.Asn565Thr, XP_011514618.1:p.Asn565Ser, XP_011514618.1:p.Asn565Ile, XP_011514619.1:p.Asn565Thr, XP_011514619.1:p.Asn565Ser, XP_011514619.1:p.Asn565Ile, XP_047276435.1:p.Asn565Thr, XP_047276435.1:p.Asn565Ser, XP_047276435.1:p.Asn565Ile, XP_047276436.1:p.Asn565Thr, XP_047276436.1:p.Asn565Ser, XP_047276436.1:p.Asn565Ile, XP_047276437.1:p.Asn565Thr, XP_047276437.1:p.Asn565Ser, XP_047276437.1:p.Asn565Ile
      3.

      rs1490061702 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        7:106868238 (GRCh38)
        7:106508683 (GRCh37)
        Canonical SPDI:
        NC_000007.14:106868237:G:A,NC_000007.14:106868237:G:C,NC_000007.14:106868237:G:T
        Gene:
        PIK3CG (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000007.14:g.106868238G>A, NC_000007.14:g.106868238G>C, NC_000007.14:g.106868238G>T, NC_000007.13:g.106508683G>A, NC_000007.13:g.106508683G>C, NC_000007.13:g.106508683G>T, NG_050579.1:g.7961G>A, NG_050579.1:g.7961G>C, NG_050579.1:g.7961G>T, NM_002649.3:c.677G>A, NM_002649.3:c.677G>C, NM_002649.3:c.677G>T, NM_002649.2:c.677G>A, NM_002649.2:c.677G>C, NM_002649.2:c.677G>T, NM_001282426.2:c.677G>A, NM_001282426.2:c.677G>C, NM_001282426.2:c.677G>T, NM_001282426.1:c.677G>A, NM_001282426.1:c.677G>C, NM_001282426.1:c.677G>T, NM_001282427.2:c.677G>A, NM_001282427.2:c.677G>C, NM_001282427.2:c.677G>T, NM_001282427.1:c.677G>A, NM_001282427.1:c.677G>C, NM_001282427.1:c.677G>T, XM_005250443.4:c.677G>A, XM_005250443.4:c.677G>C, XM_005250443.4:c.677G>T, XM_005250443.3:c.677G>A, XM_005250443.3:c.677G>C, XM_005250443.3:c.677G>T, XM_005250443.2:c.677G>A, XM_005250443.2:c.677G>C, XM_005250443.2:c.677G>T, XM_005250443.1:c.677G>A, XM_005250443.1:c.677G>C, XM_005250443.1:c.677G>T, XM_017012328.2:c.677G>A, XM_017012328.2:c.677G>C, XM_017012328.2:c.677G>T, XM_017012328.1:c.677G>A, XM_017012328.1:c.677G>C, XM_017012328.1:c.677G>T, XM_011516316.2:c.677G>A, XM_011516316.2:c.677G>C, XM_011516316.2:c.677G>T, XM_011516316.1:c.677G>A, XM_011516316.1:c.677G>C, XM_011516316.1:c.677G>T, XM_011516317.2:c.677G>A, XM_011516317.2:c.677G>C, XM_011516317.2:c.677G>T, XM_011516317.1:c.677G>A, XM_011516317.1:c.677G>C, XM_011516317.1:c.677G>T, XM_047420479.1:c.677G>A, XM_047420479.1:c.677G>C, XM_047420479.1:c.677G>T, XM_047420480.1:c.677G>A, XM_047420480.1:c.677G>C, XM_047420480.1:c.677G>T, XM_047420481.1:c.677G>A, XM_047420481.1:c.677G>C, XM_047420481.1:c.677G>T, NP_002640.2:p.Arg226His, NP_002640.2:p.Arg226Pro, NP_002640.2:p.Arg226Leu, NP_001269355.1:p.Arg226His, NP_001269355.1:p.Arg226Pro, NP_001269355.1:p.Arg226Leu, NP_001269356.1:p.Arg226His, NP_001269356.1:p.Arg226Pro, NP_001269356.1:p.Arg226Leu, XP_005250500.1:p.Arg226His, XP_005250500.1:p.Arg226Pro, XP_005250500.1:p.Arg226Leu, XP_016867817.1:p.Arg226His, XP_016867817.1:p.Arg226Pro, XP_016867817.1:p.Arg226Leu, XP_011514618.1:p.Arg226His, XP_011514618.1:p.Arg226Pro, XP_011514618.1:p.Arg226Leu, XP_011514619.1:p.Arg226His, XP_011514619.1:p.Arg226Pro, XP_011514619.1:p.Arg226Leu, XP_047276435.1:p.Arg226His, XP_047276435.1:p.Arg226Pro, XP_047276435.1:p.Arg226Leu, XP_047276436.1:p.Arg226His, XP_047276436.1:p.Arg226Pro, XP_047276436.1:p.Arg226Leu, XP_047276437.1:p.Arg226His, XP_047276437.1:p.Arg226Pro, XP_047276437.1:p.Arg226Leu
        4.

        rs1488506677 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          7:106882165 (GRCh38)
          7:106522610 (GRCh37)
          Canonical SPDI:
          NC_000007.14:106882164:T:A,NC_000007.14:106882164:T:C
          Gene:
          PIK3CG (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_000007.14:g.106882165T>A, NC_000007.14:g.106882165T>C, NC_000007.13:g.106522610T>A, NC_000007.13:g.106522610T>C, NG_050579.1:g.21888T>A, NG_050579.1:g.21888T>C, NM_002649.3:c.2587T>A, NM_002649.3:c.2587T>C, NM_002649.2:c.2587T>A, NM_002649.2:c.2587T>C, NM_001282426.2:c.2587T>A, NM_001282426.2:c.2587T>C, NM_001282426.1:c.2587T>A, NM_001282426.1:c.2587T>C, NM_001282427.2:c.2587T>A, NM_001282427.2:c.2587T>C, NM_001282427.1:c.2587T>A, NM_001282427.1:c.2587T>C, XM_005250443.4:c.2587T>A, XM_005250443.4:c.2587T>C, XM_005250443.3:c.2587T>A, XM_005250443.3:c.2587T>C, XM_005250443.2:c.2587T>A, XM_005250443.2:c.2587T>C, XM_005250443.1:c.2587T>A, XM_005250443.1:c.2587T>C, XM_017012328.2:c.2587T>A, XM_017012328.2:c.2587T>C, XM_017012328.1:c.2587T>A, XM_017012328.1:c.2587T>C, XM_011516316.2:c.2587T>A, XM_011516316.2:c.2587T>C, XM_011516316.1:c.2587T>A, XM_011516316.1:c.2587T>C, XM_011516317.2:c.2587T>A, XM_011516317.2:c.2587T>C, XM_011516317.1:c.2587T>A, XM_011516317.1:c.2587T>C, XM_047420479.1:c.2587T>A, XM_047420479.1:c.2587T>C, XM_047420480.1:c.2587T>A, XM_047420480.1:c.2587T>C, XM_047420481.1:c.2587T>A, XM_047420481.1:c.2587T>C, NP_002640.2:p.Cys863Ser, NP_002640.2:p.Cys863Arg, NP_001269355.1:p.Cys863Ser, NP_001269355.1:p.Cys863Arg, NP_001269356.1:p.Cys863Ser, NP_001269356.1:p.Cys863Arg, XP_005250500.1:p.Cys863Ser, XP_005250500.1:p.Cys863Arg, XP_016867817.1:p.Cys863Ser, XP_016867817.1:p.Cys863Arg, XP_011514618.1:p.Cys863Ser, XP_011514618.1:p.Cys863Arg, XP_011514619.1:p.Cys863Ser, XP_011514619.1:p.Cys863Arg, XP_047276435.1:p.Cys863Ser, XP_047276435.1:p.Cys863Arg, XP_047276436.1:p.Cys863Ser, XP_047276436.1:p.Cys863Arg, XP_047276437.1:p.Cys863Ser, XP_047276437.1:p.Cys863Arg
          5.

          rs1487014289 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C,T [Show Flanks]
            Chromosome:
            7:106884260 (GRCh38)
            7:106524705 (GRCh37)
            Canonical SPDI:
            NC_000007.14:106884259:G:A,NC_000007.14:106884259:G:C,NC_000007.14:106884259:G:T
            Gene:
            PIK3CG (Varview)
            Functional Consequence:
            stop_gained,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000056/2 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000008/2 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            NC_000007.14:g.106884260G>A, NC_000007.14:g.106884260G>C, NC_000007.14:g.106884260G>T, NC_000007.13:g.106524705G>A, NC_000007.13:g.106524705G>C, NC_000007.13:g.106524705G>T, NG_050579.1:g.23983G>A, NG_050579.1:g.23983G>C, NG_050579.1:g.23983G>T, NM_002649.3:c.2866G>A, NM_002649.3:c.2866G>C, NM_002649.3:c.2866G>T, NM_002649.2:c.2866G>A, NM_002649.2:c.2866G>C, NM_002649.2:c.2866G>T, NM_001282426.2:c.2866G>A, NM_001282426.2:c.2866G>C, NM_001282426.2:c.2866G>T, NM_001282426.1:c.2866G>A, NM_001282426.1:c.2866G>C, NM_001282426.1:c.2866G>T, NM_001282427.2:c.2866G>A, NM_001282427.2:c.2866G>C, NM_001282427.2:c.2866G>T, NM_001282427.1:c.2866G>A, NM_001282427.1:c.2866G>C, NM_001282427.1:c.2866G>T, XM_005250443.4:c.2866G>A, XM_005250443.4:c.2866G>C, XM_005250443.4:c.2866G>T, XM_005250443.3:c.2866G>A, XM_005250443.3:c.2866G>C, XM_005250443.3:c.2866G>T, XM_005250443.2:c.2866G>A, XM_005250443.2:c.2866G>C, XM_005250443.2:c.2866G>T, XM_005250443.1:c.2866G>A, XM_005250443.1:c.2866G>C, XM_005250443.1:c.2866G>T, XM_017012328.2:c.2866G>A, XM_017012328.2:c.2866G>C, XM_017012328.2:c.2866G>T, XM_017012328.1:c.2866G>A, XM_017012328.1:c.2866G>C, XM_017012328.1:c.2866G>T, XM_011516316.2:c.2866G>A, XM_011516316.2:c.2866G>C, XM_011516316.2:c.2866G>T, XM_011516316.1:c.2866G>A, XM_011516316.1:c.2866G>C, XM_011516316.1:c.2866G>T, XM_047420479.1:c.2866G>A, XM_047420479.1:c.2866G>C, XM_047420479.1:c.2866G>T, NP_002640.2:p.Glu956Lys, NP_002640.2:p.Glu956Gln, NP_002640.2:p.Glu956Ter, NP_001269355.1:p.Glu956Lys, NP_001269355.1:p.Glu956Gln, NP_001269355.1:p.Glu956Ter, NP_001269356.1:p.Glu956Lys, NP_001269356.1:p.Glu956Gln, NP_001269356.1:p.Glu956Ter, XP_005250500.1:p.Glu956Lys, XP_005250500.1:p.Glu956Gln, XP_005250500.1:p.Glu956Ter, XP_016867817.1:p.Glu956Lys, XP_016867817.1:p.Glu956Gln, XP_016867817.1:p.Glu956Ter, XP_011514618.1:p.Glu956Lys, XP_011514618.1:p.Glu956Gln, XP_011514618.1:p.Glu956Ter, XP_047276435.1:p.Glu956Lys, XP_047276435.1:p.Glu956Gln, XP_047276435.1:p.Glu956Ter
            6.

            rs1486895030 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              7:106868844 (GRCh38)
              7:106509289 (GRCh37)
              Canonical SPDI:
              NC_000007.14:106868843:T:A,NC_000007.14:106868843:T:C
              Gene:
              PIK3CG (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000007.14:g.106868844T>A, NC_000007.14:g.106868844T>C, NC_000007.13:g.106509289T>A, NC_000007.13:g.106509289T>C, NG_050579.1:g.8567T>A, NG_050579.1:g.8567T>C, NM_002649.3:c.1283T>A, NM_002649.3:c.1283T>C, NM_002649.2:c.1283T>A, NM_002649.2:c.1283T>C, NM_001282426.2:c.1283T>A, NM_001282426.2:c.1283T>C, NM_001282426.1:c.1283T>A, NM_001282426.1:c.1283T>C, NM_001282427.2:c.1283T>A, NM_001282427.2:c.1283T>C, NM_001282427.1:c.1283T>A, NM_001282427.1:c.1283T>C, XM_005250443.4:c.1283T>A, XM_005250443.4:c.1283T>C, XM_005250443.3:c.1283T>A, XM_005250443.3:c.1283T>C, XM_005250443.2:c.1283T>A, XM_005250443.2:c.1283T>C, XM_005250443.1:c.1283T>A, XM_005250443.1:c.1283T>C, XM_017012328.2:c.1283T>A, XM_017012328.2:c.1283T>C, XM_017012328.1:c.1283T>A, XM_017012328.1:c.1283T>C, XM_011516316.2:c.1283T>A, XM_011516316.2:c.1283T>C, XM_011516316.1:c.1283T>A, XM_011516316.1:c.1283T>C, XM_011516317.2:c.1283T>A, XM_011516317.2:c.1283T>C, XM_011516317.1:c.1283T>A, XM_011516317.1:c.1283T>C, XM_047420479.1:c.1283T>A, XM_047420479.1:c.1283T>C, XM_047420480.1:c.1283T>A, XM_047420480.1:c.1283T>C, XM_047420481.1:c.1283T>A, XM_047420481.1:c.1283T>C, NP_002640.2:p.Leu428Gln, NP_002640.2:p.Leu428Pro, NP_001269355.1:p.Leu428Gln, NP_001269355.1:p.Leu428Pro, NP_001269356.1:p.Leu428Gln, NP_001269356.1:p.Leu428Pro, XP_005250500.1:p.Leu428Gln, XP_005250500.1:p.Leu428Pro, XP_016867817.1:p.Leu428Gln, XP_016867817.1:p.Leu428Pro, XP_011514618.1:p.Leu428Gln, XP_011514618.1:p.Leu428Pro, XP_011514619.1:p.Leu428Gln, XP_011514619.1:p.Leu428Pro, XP_047276435.1:p.Leu428Gln, XP_047276435.1:p.Leu428Pro, XP_047276436.1:p.Leu428Gln, XP_047276436.1:p.Leu428Pro, XP_047276437.1:p.Leu428Gln, XP_047276437.1:p.Leu428Pro
              8.

              rs1486644188 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C,G [Show Flanks]
                Chromosome:
                7:106868577 (GRCh38)
                7:106509022 (GRCh37)
                Canonical SPDI:
                NC_000007.14:106868576:T:A,NC_000007.14:106868576:T:C,NC_000007.14:106868576:T:G
                Gene:
                PIK3CG (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.106868577T>A, NC_000007.14:g.106868577T>C, NC_000007.14:g.106868577T>G, NC_000007.13:g.106509022T>A, NC_000007.13:g.106509022T>C, NC_000007.13:g.106509022T>G, NG_050579.1:g.8300T>A, NG_050579.1:g.8300T>C, NG_050579.1:g.8300T>G, NM_002649.3:c.1016T>A, NM_002649.3:c.1016T>C, NM_002649.3:c.1016T>G, NM_002649.2:c.1016T>A, NM_002649.2:c.1016T>C, NM_002649.2:c.1016T>G, NM_001282426.2:c.1016T>A, NM_001282426.2:c.1016T>C, NM_001282426.2:c.1016T>G, NM_001282426.1:c.1016T>A, NM_001282426.1:c.1016T>C, NM_001282426.1:c.1016T>G, NM_001282427.2:c.1016T>A, NM_001282427.2:c.1016T>C, NM_001282427.2:c.1016T>G, NM_001282427.1:c.1016T>A, NM_001282427.1:c.1016T>C, NM_001282427.1:c.1016T>G, XM_005250443.4:c.1016T>A, XM_005250443.4:c.1016T>C, XM_005250443.4:c.1016T>G, XM_005250443.3:c.1016T>A, XM_005250443.3:c.1016T>C, XM_005250443.3:c.1016T>G, XM_005250443.2:c.1016T>A, XM_005250443.2:c.1016T>C, XM_005250443.2:c.1016T>G, XM_005250443.1:c.1016T>A, XM_005250443.1:c.1016T>C, XM_005250443.1:c.1016T>G, XM_017012328.2:c.1016T>A, XM_017012328.2:c.1016T>C, XM_017012328.2:c.1016T>G, XM_017012328.1:c.1016T>A, XM_017012328.1:c.1016T>C, XM_017012328.1:c.1016T>G, XM_011516316.2:c.1016T>A, XM_011516316.2:c.1016T>C, XM_011516316.2:c.1016T>G, XM_011516316.1:c.1016T>A, XM_011516316.1:c.1016T>C, XM_011516316.1:c.1016T>G, XM_011516317.2:c.1016T>A, XM_011516317.2:c.1016T>C, XM_011516317.2:c.1016T>G, XM_011516317.1:c.1016T>A, XM_011516317.1:c.1016T>C, XM_011516317.1:c.1016T>G, XM_047420479.1:c.1016T>A, XM_047420479.1:c.1016T>C, XM_047420479.1:c.1016T>G, XM_047420480.1:c.1016T>A, XM_047420480.1:c.1016T>C, XM_047420480.1:c.1016T>G, XM_047420481.1:c.1016T>A, XM_047420481.1:c.1016T>C, XM_047420481.1:c.1016T>G, NP_002640.2:p.Leu339His, NP_002640.2:p.Leu339Pro, NP_002640.2:p.Leu339Arg, NP_001269355.1:p.Leu339His, NP_001269355.1:p.Leu339Pro, NP_001269355.1:p.Leu339Arg, NP_001269356.1:p.Leu339His, NP_001269356.1:p.Leu339Pro, NP_001269356.1:p.Leu339Arg, XP_005250500.1:p.Leu339His, XP_005250500.1:p.Leu339Pro, XP_005250500.1:p.Leu339Arg, XP_016867817.1:p.Leu339His, XP_016867817.1:p.Leu339Pro, XP_016867817.1:p.Leu339Arg, XP_011514618.1:p.Leu339His, XP_011514618.1:p.Leu339Pro, XP_011514618.1:p.Leu339Arg, XP_011514619.1:p.Leu339His, XP_011514619.1:p.Leu339Pro, XP_011514619.1:p.Leu339Arg, XP_047276435.1:p.Leu339His, XP_047276435.1:p.Leu339Pro, XP_047276435.1:p.Leu339Arg, XP_047276436.1:p.Leu339His, XP_047276436.1:p.Leu339Pro, XP_047276436.1:p.Leu339Arg, XP_047276437.1:p.Leu339His, XP_047276437.1:p.Leu339Pro, XP_047276437.1:p.Leu339Arg
                9.

                rs1485807487 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  7:106872594 (GRCh38)
                  7:106513039 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:106872593:G:A,NC_000007.14:106872593:G:C,NC_000007.14:106872593:G:T
                  Gene:
                  PIK3CG (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000007.14:g.106872594G>A, NC_000007.14:g.106872594G>C, NC_000007.14:g.106872594G>T, NC_000007.13:g.106513039G>A, NC_000007.13:g.106513039G>C, NC_000007.13:g.106513039G>T, NG_050579.1:g.12317G>A, NG_050579.1:g.12317G>C, NG_050579.1:g.12317G>T, NM_002649.3:c.2053G>A, NM_002649.3:c.2053G>C, NM_002649.3:c.2053G>T, NM_002649.2:c.2053G>A, NM_002649.2:c.2053G>C, NM_002649.2:c.2053G>T, NM_001282426.2:c.2053G>A, NM_001282426.2:c.2053G>C, NM_001282426.2:c.2053G>T, NM_001282426.1:c.2053G>A, NM_001282426.1:c.2053G>C, NM_001282426.1:c.2053G>T, NM_001282427.2:c.2053G>A, NM_001282427.2:c.2053G>C, NM_001282427.2:c.2053G>T, NM_001282427.1:c.2053G>A, NM_001282427.1:c.2053G>C, NM_001282427.1:c.2053G>T, XM_005250443.4:c.2053G>A, XM_005250443.4:c.2053G>C, XM_005250443.4:c.2053G>T, XM_005250443.3:c.2053G>A, XM_005250443.3:c.2053G>C, XM_005250443.3:c.2053G>T, XM_005250443.2:c.2053G>A, XM_005250443.2:c.2053G>C, XM_005250443.2:c.2053G>T, XM_005250443.1:c.2053G>A, XM_005250443.1:c.2053G>C, XM_005250443.1:c.2053G>T, XM_017012328.2:c.2053G>A, XM_017012328.2:c.2053G>C, XM_017012328.2:c.2053G>T, XM_017012328.1:c.2053G>A, XM_017012328.1:c.2053G>C, XM_017012328.1:c.2053G>T, XM_011516316.2:c.2053G>A, XM_011516316.2:c.2053G>C, XM_011516316.2:c.2053G>T, XM_011516316.1:c.2053G>A, XM_011516316.1:c.2053G>C, XM_011516316.1:c.2053G>T, XM_011516317.2:c.2053G>A, XM_011516317.2:c.2053G>C, XM_011516317.2:c.2053G>T, XM_011516317.1:c.2053G>A, XM_011516317.1:c.2053G>C, XM_011516317.1:c.2053G>T, XM_047420479.1:c.2053G>A, XM_047420479.1:c.2053G>C, XM_047420479.1:c.2053G>T, XM_047420480.1:c.2053G>A, XM_047420480.1:c.2053G>C, XM_047420480.1:c.2053G>T, XM_047420481.1:c.2053G>A, XM_047420481.1:c.2053G>C, XM_047420481.1:c.2053G>T, NP_002640.2:p.Gly685Ser, NP_002640.2:p.Gly685Arg, NP_002640.2:p.Gly685Cys, NP_001269355.1:p.Gly685Ser, NP_001269355.1:p.Gly685Arg, NP_001269355.1:p.Gly685Cys, NP_001269356.1:p.Gly685Ser, NP_001269356.1:p.Gly685Arg, NP_001269356.1:p.Gly685Cys, XP_005250500.1:p.Gly685Ser, XP_005250500.1:p.Gly685Arg, XP_005250500.1:p.Gly685Cys, XP_016867817.1:p.Gly685Ser, XP_016867817.1:p.Gly685Arg, XP_016867817.1:p.Gly685Cys, XP_011514618.1:p.Gly685Ser, XP_011514618.1:p.Gly685Arg, XP_011514618.1:p.Gly685Cys, XP_011514619.1:p.Gly685Ser, XP_011514619.1:p.Gly685Arg, XP_011514619.1:p.Gly685Cys, XP_047276435.1:p.Gly685Ser, XP_047276435.1:p.Gly685Arg, XP_047276435.1:p.Gly685Cys, XP_047276436.1:p.Gly685Ser, XP_047276436.1:p.Gly685Arg, XP_047276436.1:p.Gly685Cys, XP_047276437.1:p.Gly685Ser, XP_047276437.1:p.Gly685Arg, XP_047276437.1:p.Gly685Cys
                  10.

                  rs1485110487 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    7:106886140 (GRCh38)
                    7:106526585 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:106886139:C:A,NC_000007.14:106886139:C:G,NC_000007.14:106886139:C:T
                    Gene:
                    PIK3CG (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000043/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000007.14:g.106886140C>A, NC_000007.14:g.106886140C>G, NC_000007.14:g.106886140C>T, NC_000007.13:g.106526585C>A, NC_000007.13:g.106526585C>G, NC_000007.13:g.106526585C>T, NG_050579.1:g.25863C>A, NG_050579.1:g.25863C>G, NG_050579.1:g.25863C>T, NM_002649.3:c.2878C>A, NM_002649.3:c.2878C>G, NM_002649.3:c.2878C>T, NM_002649.2:c.2878C>A, NM_002649.2:c.2878C>G, NM_002649.2:c.2878C>T, NM_001282426.2:c.2878C>A, NM_001282426.2:c.2878C>G, NM_001282426.2:c.2878C>T, NM_001282426.1:c.2878C>A, NM_001282426.1:c.2878C>G, NM_001282426.1:c.2878C>T, NM_001282427.2:c.2878C>A, NM_001282427.2:c.2878C>G, NM_001282427.2:c.2878C>T, NM_001282427.1:c.2878C>A, NM_001282427.1:c.2878C>G, NM_001282427.1:c.2878C>T, XM_005250443.4:c.2878C>A, XM_005250443.4:c.2878C>G, XM_005250443.4:c.2878C>T, XM_005250443.3:c.2878C>A, XM_005250443.3:c.2878C>G, XM_005250443.3:c.2878C>T, XM_005250443.2:c.2878C>A, XM_005250443.2:c.2878C>G, XM_005250443.2:c.2878C>T, XM_005250443.1:c.2878C>A, XM_005250443.1:c.2878C>G, XM_005250443.1:c.2878C>T, XM_017012328.2:c.2878C>A, XM_017012328.2:c.2878C>G, XM_017012328.2:c.2878C>T, XM_017012328.1:c.2878C>A, XM_017012328.1:c.2878C>G, XM_017012328.1:c.2878C>T, XM_011516316.2:c.2878C>A, XM_011516316.2:c.2878C>G, XM_011516316.2:c.2878C>T, XM_011516316.1:c.2878C>A, XM_011516316.1:c.2878C>G, XM_011516316.1:c.2878C>T, XM_047420479.1:c.2878C>A, XM_047420479.1:c.2878C>G, XM_047420479.1:c.2878C>T, NP_002640.2:p.Leu960Ile, NP_002640.2:p.Leu960Val, NP_001269355.1:p.Leu960Ile, NP_001269355.1:p.Leu960Val, NP_001269356.1:p.Leu960Ile, NP_001269356.1:p.Leu960Val, XP_005250500.1:p.Leu960Ile, XP_005250500.1:p.Leu960Val, XP_016867817.1:p.Leu960Ile, XP_016867817.1:p.Leu960Val, XP_011514618.1:p.Leu960Ile, XP_011514618.1:p.Leu960Val, XP_047276435.1:p.Leu960Ile, XP_047276435.1:p.Leu960Val
                    11.

                    rs1484695035 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C,T [Show Flanks]
                      Chromosome:
                      7:106867994 (GRCh38)
                      7:106508439 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:106867993:G:A,NC_000007.14:106867993:G:C,NC_000007.14:106867993:G:T
                      Gene:
                      PIK3CG (Varview)
                      Functional Consequence:
                      stop_gained,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000011/3 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000007.14:g.106867994G>A, NC_000007.14:g.106867994G>C, NC_000007.14:g.106867994G>T, NC_000007.13:g.106508439G>A, NC_000007.13:g.106508439G>C, NC_000007.13:g.106508439G>T, NG_050579.1:g.7717G>A, NG_050579.1:g.7717G>C, NG_050579.1:g.7717G>T, NM_002649.3:c.433G>A, NM_002649.3:c.433G>C, NM_002649.3:c.433G>T, NM_002649.2:c.433G>A, NM_002649.2:c.433G>C, NM_002649.2:c.433G>T, NM_001282426.2:c.433G>A, NM_001282426.2:c.433G>C, NM_001282426.2:c.433G>T, NM_001282426.1:c.433G>A, NM_001282426.1:c.433G>C, NM_001282426.1:c.433G>T, NM_001282427.2:c.433G>A, NM_001282427.2:c.433G>C, NM_001282427.2:c.433G>T, NM_001282427.1:c.433G>A, NM_001282427.1:c.433G>C, NM_001282427.1:c.433G>T, XM_005250443.4:c.433G>A, XM_005250443.4:c.433G>C, XM_005250443.4:c.433G>T, XM_005250443.3:c.433G>A, XM_005250443.3:c.433G>C, XM_005250443.3:c.433G>T, XM_005250443.2:c.433G>A, XM_005250443.2:c.433G>C, XM_005250443.2:c.433G>T, XM_005250443.1:c.433G>A, XM_005250443.1:c.433G>C, XM_005250443.1:c.433G>T, XM_017012328.2:c.433G>A, XM_017012328.2:c.433G>C, XM_017012328.2:c.433G>T, XM_017012328.1:c.433G>A, XM_017012328.1:c.433G>C, XM_017012328.1:c.433G>T, XM_011516316.2:c.433G>A, XM_011516316.2:c.433G>C, XM_011516316.2:c.433G>T, XM_011516316.1:c.433G>A, XM_011516316.1:c.433G>C, XM_011516316.1:c.433G>T, XM_011516317.2:c.433G>A, XM_011516317.2:c.433G>C, XM_011516317.2:c.433G>T, XM_011516317.1:c.433G>A, XM_011516317.1:c.433G>C, XM_011516317.1:c.433G>T, XM_047420479.1:c.433G>A, XM_047420479.1:c.433G>C, XM_047420479.1:c.433G>T, XM_047420480.1:c.433G>A, XM_047420480.1:c.433G>C, XM_047420480.1:c.433G>T, XM_047420481.1:c.433G>A, XM_047420481.1:c.433G>C, XM_047420481.1:c.433G>T, NP_002640.2:p.Glu145Lys, NP_002640.2:p.Glu145Gln, NP_002640.2:p.Glu145Ter, NP_001269355.1:p.Glu145Lys, NP_001269355.1:p.Glu145Gln, NP_001269355.1:p.Glu145Ter, NP_001269356.1:p.Glu145Lys, NP_001269356.1:p.Glu145Gln, NP_001269356.1:p.Glu145Ter, XP_005250500.1:p.Glu145Lys, XP_005250500.1:p.Glu145Gln, XP_005250500.1:p.Glu145Ter, XP_016867817.1:p.Glu145Lys, XP_016867817.1:p.Glu145Gln, XP_016867817.1:p.Glu145Ter, XP_011514618.1:p.Glu145Lys, XP_011514618.1:p.Glu145Gln, XP_011514618.1:p.Glu145Ter, XP_011514619.1:p.Glu145Lys, XP_011514619.1:p.Glu145Gln, XP_011514619.1:p.Glu145Ter, XP_047276435.1:p.Glu145Lys, XP_047276435.1:p.Glu145Gln, XP_047276435.1:p.Glu145Ter, XP_047276436.1:p.Glu145Lys, XP_047276436.1:p.Glu145Gln, XP_047276436.1:p.Glu145Ter, XP_047276437.1:p.Glu145Lys, XP_047276437.1:p.Glu145Gln, XP_047276437.1:p.Glu145Ter
                      12.

                      rs1484305297 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        7:106879643 (GRCh38)
                        7:106520088 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:106879642:G:A,NC_000007.14:106879642:G:C,NC_000007.14:106879642:G:T
                        Gene:
                        PIK3CG (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000007.14:g.106879643G>A, NC_000007.14:g.106879643G>C, NC_000007.14:g.106879643G>T, NC_000007.13:g.106520088G>A, NC_000007.13:g.106520088G>C, NC_000007.13:g.106520088G>T, NG_050579.1:g.19366G>A, NG_050579.1:g.19366G>C, NG_050579.1:g.19366G>T, NM_002649.3:c.2516G>A, NM_002649.3:c.2516G>C, NM_002649.3:c.2516G>T, NM_002649.2:c.2516G>A, NM_002649.2:c.2516G>C, NM_002649.2:c.2516G>T, NM_001282426.2:c.2516G>A, NM_001282426.2:c.2516G>C, NM_001282426.2:c.2516G>T, NM_001282426.1:c.2516G>A, NM_001282426.1:c.2516G>C, NM_001282426.1:c.2516G>T, NM_001282427.2:c.2516G>A, NM_001282427.2:c.2516G>C, NM_001282427.2:c.2516G>T, NM_001282427.1:c.2516G>A, NM_001282427.1:c.2516G>C, NM_001282427.1:c.2516G>T, XM_005250443.4:c.2516G>A, XM_005250443.4:c.2516G>C, XM_005250443.4:c.2516G>T, XM_005250443.3:c.2516G>A, XM_005250443.3:c.2516G>C, XM_005250443.3:c.2516G>T, XM_005250443.2:c.2516G>A, XM_005250443.2:c.2516G>C, XM_005250443.2:c.2516G>T, XM_005250443.1:c.2516G>A, XM_005250443.1:c.2516G>C, XM_005250443.1:c.2516G>T, XM_017012328.2:c.2516G>A, XM_017012328.2:c.2516G>C, XM_017012328.2:c.2516G>T, XM_017012328.1:c.2516G>A, XM_017012328.1:c.2516G>C, XM_017012328.1:c.2516G>T, XM_011516316.2:c.2516G>A, XM_011516316.2:c.2516G>C, XM_011516316.2:c.2516G>T, XM_011516316.1:c.2516G>A, XM_011516316.1:c.2516G>C, XM_011516316.1:c.2516G>T, XM_011516317.2:c.2516G>A, XM_011516317.2:c.2516G>C, XM_011516317.2:c.2516G>T, XM_011516317.1:c.2516G>A, XM_011516317.1:c.2516G>C, XM_011516317.1:c.2516G>T, XM_047420479.1:c.2516G>A, XM_047420479.1:c.2516G>C, XM_047420479.1:c.2516G>T, XM_047420480.1:c.2516G>A, XM_047420480.1:c.2516G>C, XM_047420480.1:c.2516G>T, XM_047420481.1:c.2516G>A, XM_047420481.1:c.2516G>C, XM_047420481.1:c.2516G>T, NP_002640.2:p.Arg839His, NP_002640.2:p.Arg839Pro, NP_002640.2:p.Arg839Leu, NP_001269355.1:p.Arg839His, NP_001269355.1:p.Arg839Pro, NP_001269355.1:p.Arg839Leu, NP_001269356.1:p.Arg839His, NP_001269356.1:p.Arg839Pro, NP_001269356.1:p.Arg839Leu, XP_005250500.1:p.Arg839His, XP_005250500.1:p.Arg839Pro, XP_005250500.1:p.Arg839Leu, XP_016867817.1:p.Arg839His, XP_016867817.1:p.Arg839Pro, XP_016867817.1:p.Arg839Leu, XP_011514618.1:p.Arg839His, XP_011514618.1:p.Arg839Pro, XP_011514618.1:p.Arg839Leu, XP_011514619.1:p.Arg839His, XP_011514619.1:p.Arg839Pro, XP_011514619.1:p.Arg839Leu, XP_047276435.1:p.Arg839His, XP_047276435.1:p.Arg839Pro, XP_047276435.1:p.Arg839Leu, XP_047276436.1:p.Arg839His, XP_047276436.1:p.Arg839Pro, XP_047276436.1:p.Arg839Leu, XP_047276437.1:p.Arg839His, XP_047276437.1:p.Arg839Pro, XP_047276437.1:p.Arg839Leu
                        13.

                        rs1483379501 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C,G [Show Flanks]
                          Chromosome:
                          7:106869281 (GRCh38)
                          7:106509726 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:106869280:T:A,NC_000007.14:106869280:T:C,NC_000007.14:106869280:T:G
                          Gene:
                          PIK3CG (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000084/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000007.14:g.106869281T>A, NC_000007.14:g.106869281T>C, NC_000007.14:g.106869281T>G, NC_000007.13:g.106509726T>A, NC_000007.13:g.106509726T>C, NC_000007.13:g.106509726T>G, NG_050579.1:g.9004T>A, NG_050579.1:g.9004T>C, NG_050579.1:g.9004T>G, NM_002649.3:c.1720T>A, NM_002649.3:c.1720T>C, NM_002649.3:c.1720T>G, NM_002649.2:c.1720T>A, NM_002649.2:c.1720T>C, NM_002649.2:c.1720T>G, NM_001282426.2:c.1720T>A, NM_001282426.2:c.1720T>C, NM_001282426.2:c.1720T>G, NM_001282426.1:c.1720T>A, NM_001282426.1:c.1720T>C, NM_001282426.1:c.1720T>G, NM_001282427.2:c.1720T>A, NM_001282427.2:c.1720T>C, NM_001282427.2:c.1720T>G, NM_001282427.1:c.1720T>A, NM_001282427.1:c.1720T>C, NM_001282427.1:c.1720T>G, XM_005250443.4:c.1720T>A, XM_005250443.4:c.1720T>C, XM_005250443.4:c.1720T>G, XM_005250443.3:c.1720T>A, XM_005250443.3:c.1720T>C, XM_005250443.3:c.1720T>G, XM_005250443.2:c.1720T>A, XM_005250443.2:c.1720T>C, XM_005250443.2:c.1720T>G, XM_005250443.1:c.1720T>A, XM_005250443.1:c.1720T>C, XM_005250443.1:c.1720T>G, XM_017012328.2:c.1720T>A, XM_017012328.2:c.1720T>C, XM_017012328.2:c.1720T>G, XM_017012328.1:c.1720T>A, XM_017012328.1:c.1720T>C, XM_017012328.1:c.1720T>G, XM_011516316.2:c.1720T>A, XM_011516316.2:c.1720T>C, XM_011516316.2:c.1720T>G, XM_011516316.1:c.1720T>A, XM_011516316.1:c.1720T>C, XM_011516316.1:c.1720T>G, XM_011516317.2:c.1720T>A, XM_011516317.2:c.1720T>C, XM_011516317.2:c.1720T>G, XM_011516317.1:c.1720T>A, XM_011516317.1:c.1720T>C, XM_011516317.1:c.1720T>G, XM_047420479.1:c.1720T>A, XM_047420479.1:c.1720T>C, XM_047420479.1:c.1720T>G, XM_047420480.1:c.1720T>A, XM_047420480.1:c.1720T>C, XM_047420480.1:c.1720T>G, XM_047420481.1:c.1720T>A, XM_047420481.1:c.1720T>C, XM_047420481.1:c.1720T>G, NP_002640.2:p.Leu574Met, NP_002640.2:p.Leu574Val, NP_001269355.1:p.Leu574Met, NP_001269355.1:p.Leu574Val, NP_001269356.1:p.Leu574Met, NP_001269356.1:p.Leu574Val, XP_005250500.1:p.Leu574Met, XP_005250500.1:p.Leu574Val, XP_016867817.1:p.Leu574Met, XP_016867817.1:p.Leu574Val, XP_011514618.1:p.Leu574Met, XP_011514618.1:p.Leu574Val, XP_011514619.1:p.Leu574Met, XP_011514619.1:p.Leu574Val, XP_047276435.1:p.Leu574Met, XP_047276435.1:p.Leu574Val, XP_047276436.1:p.Leu574Met, XP_047276436.1:p.Leu574Val, XP_047276437.1:p.Leu574Met, XP_047276437.1:p.Leu574Val
                          14.

                          rs1481922243 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            7:106869070 (GRCh38)
                            7:106509515 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:106869069:G:A,NC_000007.14:106869069:G:C,NC_000007.14:106869069:G:T
                            Gene:
                            PIK3CG (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000007.14:g.106869070G>A, NC_000007.14:g.106869070G>C, NC_000007.14:g.106869070G>T, NC_000007.13:g.106509515G>A, NC_000007.13:g.106509515G>C, NC_000007.13:g.106509515G>T, NG_050579.1:g.8793G>A, NG_050579.1:g.8793G>C, NG_050579.1:g.8793G>T, NM_002649.3:c.1509G>A, NM_002649.3:c.1509G>C, NM_002649.3:c.1509G>T, NM_002649.2:c.1509G>A, NM_002649.2:c.1509G>C, NM_002649.2:c.1509G>T, NM_001282426.2:c.1509G>A, NM_001282426.2:c.1509G>C, NM_001282426.2:c.1509G>T, NM_001282426.1:c.1509G>A, NM_001282426.1:c.1509G>C, NM_001282426.1:c.1509G>T, NM_001282427.2:c.1509G>A, NM_001282427.2:c.1509G>C, NM_001282427.2:c.1509G>T, NM_001282427.1:c.1509G>A, NM_001282427.1:c.1509G>C, NM_001282427.1:c.1509G>T, XM_005250443.4:c.1509G>A, XM_005250443.4:c.1509G>C, XM_005250443.4:c.1509G>T, XM_005250443.3:c.1509G>A, XM_005250443.3:c.1509G>C, XM_005250443.3:c.1509G>T, XM_005250443.2:c.1509G>A, XM_005250443.2:c.1509G>C, XM_005250443.2:c.1509G>T, XM_005250443.1:c.1509G>A, XM_005250443.1:c.1509G>C, XM_005250443.1:c.1509G>T, XM_017012328.2:c.1509G>A, XM_017012328.2:c.1509G>C, XM_017012328.2:c.1509G>T, XM_017012328.1:c.1509G>A, XM_017012328.1:c.1509G>C, XM_017012328.1:c.1509G>T, XM_011516316.2:c.1509G>A, XM_011516316.2:c.1509G>C, XM_011516316.2:c.1509G>T, XM_011516316.1:c.1509G>A, XM_011516316.1:c.1509G>C, XM_011516316.1:c.1509G>T, XM_011516317.2:c.1509G>A, XM_011516317.2:c.1509G>C, XM_011516317.2:c.1509G>T, XM_011516317.1:c.1509G>A, XM_011516317.1:c.1509G>C, XM_011516317.1:c.1509G>T, XM_047420479.1:c.1509G>A, XM_047420479.1:c.1509G>C, XM_047420479.1:c.1509G>T, XM_047420480.1:c.1509G>A, XM_047420480.1:c.1509G>C, XM_047420480.1:c.1509G>T, XM_047420481.1:c.1509G>A, XM_047420481.1:c.1509G>C, XM_047420481.1:c.1509G>T
                            15.

                            rs1481147112 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              7:106905302 (GRCh38)
                              7:106545747 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:106905301:G:A,NC_000007.14:106905301:G:C,NC_000007.14:106905301:G:T
                              Gene:
                              PIK3CG (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000007.14:g.106905302G>A, NC_000007.14:g.106905302G>C, NC_000007.14:g.106905302G>T, NC_000007.13:g.106545747G>A, NC_000007.13:g.106545747G>C, NC_000007.13:g.106545747G>T, NG_050579.1:g.45025G>A, NG_050579.1:g.45025G>C, NG_050579.1:g.45025G>T, NM_002649.3:c.3224G>A, NM_002649.3:c.3224G>C, NM_002649.3:c.3224G>T, NM_002649.2:c.3224G>A, NM_002649.2:c.3224G>C, NM_002649.2:c.3224G>T, NM_001282426.2:c.3224G>A, NM_001282426.2:c.3224G>C, NM_001282426.2:c.3224G>T, NM_001282426.1:c.3224G>A, NM_001282426.1:c.3224G>C, NM_001282426.1:c.3224G>T, NM_001282427.2:c.3224G>A, NM_001282427.2:c.3224G>C, NM_001282427.2:c.3224G>T, NM_001282427.1:c.3224G>A, NM_001282427.1:c.3224G>C, NM_001282427.1:c.3224G>T, XM_005250443.4:c.3224G>A, XM_005250443.4:c.3224G>C, XM_005250443.4:c.3224G>T, XM_005250443.3:c.3224G>A, XM_005250443.3:c.3224G>C, XM_005250443.3:c.3224G>T, XM_005250443.2:c.3224G>A, XM_005250443.2:c.3224G>C, XM_005250443.2:c.3224G>T, XM_005250443.1:c.3224G>A, XM_005250443.1:c.3224G>C, XM_005250443.1:c.3224G>T, NP_002640.2:p.Cys1075Tyr, NP_002640.2:p.Cys1075Ser, NP_002640.2:p.Cys1075Phe, NP_001269355.1:p.Cys1075Tyr, NP_001269355.1:p.Cys1075Ser, NP_001269355.1:p.Cys1075Phe, NP_001269356.1:p.Cys1075Tyr, NP_001269356.1:p.Cys1075Ser, NP_001269356.1:p.Cys1075Phe, XP_005250500.1:p.Cys1075Tyr, XP_005250500.1:p.Cys1075Ser, XP_005250500.1:p.Cys1075Phe
                              16.

                              rs1478913019 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                7:106872736 (GRCh38)
                                7:106513181 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:106872735:G:C,NC_000007.14:106872735:G:T
                                Gene:
                                PIK3CG (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.0002/2 (ALFA)
                                HGVS:
                                NC_000007.14:g.106872736G>C, NC_000007.14:g.106872736G>T, NC_000007.13:g.106513181G>C, NC_000007.13:g.106513181G>T, NG_050579.1:g.12459G>C, NG_050579.1:g.12459G>T, NM_002649.3:c.2085G>C, NM_002649.3:c.2085G>T, NM_002649.2:c.2085G>C, NM_002649.2:c.2085G>T, NM_001282426.2:c.2085G>C, NM_001282426.2:c.2085G>T, NM_001282426.1:c.2085G>C, NM_001282426.1:c.2085G>T, NM_001282427.2:c.2085G>C, NM_001282427.2:c.2085G>T, NM_001282427.1:c.2085G>C, NM_001282427.1:c.2085G>T, XM_005250443.4:c.2085G>C, XM_005250443.4:c.2085G>T, XM_005250443.3:c.2085G>C, XM_005250443.3:c.2085G>T, XM_005250443.2:c.2085G>C, XM_005250443.2:c.2085G>T, XM_005250443.1:c.2085G>C, XM_005250443.1:c.2085G>T, XM_017012328.2:c.2085G>C, XM_017012328.2:c.2085G>T, XM_017012328.1:c.2085G>C, XM_017012328.1:c.2085G>T, XM_011516316.2:c.2085G>C, XM_011516316.2:c.2085G>T, XM_011516316.1:c.2085G>C, XM_011516316.1:c.2085G>T, XM_011516317.2:c.2085G>C, XM_011516317.2:c.2085G>T, XM_011516317.1:c.2085G>C, XM_011516317.1:c.2085G>T, XM_047420479.1:c.2085G>C, XM_047420479.1:c.2085G>T, XM_047420480.1:c.2085G>C, XM_047420480.1:c.2085G>T, XM_047420481.1:c.2085G>C, XM_047420481.1:c.2085G>T, NP_002640.2:p.Leu695Phe, NP_002640.2:p.Leu695Phe, NP_001269355.1:p.Leu695Phe, NP_001269355.1:p.Leu695Phe, NP_001269356.1:p.Leu695Phe, NP_001269356.1:p.Leu695Phe, XP_005250500.1:p.Leu695Phe, XP_005250500.1:p.Leu695Phe, XP_016867817.1:p.Leu695Phe, XP_016867817.1:p.Leu695Phe, XP_011514618.1:p.Leu695Phe, XP_011514618.1:p.Leu695Phe, XP_011514619.1:p.Leu695Phe, XP_011514619.1:p.Leu695Phe, XP_047276435.1:p.Leu695Phe, XP_047276435.1:p.Leu695Phe, XP_047276436.1:p.Leu695Phe, XP_047276436.1:p.Leu695Phe, XP_047276437.1:p.Leu695Phe, XP_047276437.1:p.Leu695Phe
                                19.

                                rs1477044898 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C,G [Show Flanks]
                                  Chromosome:
                                  7:106868787 (GRCh38)
                                  7:106509232 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:106868786:T:A,NC_000007.14:106868786:T:C,NC_000007.14:106868786:T:G
                                  Gene:
                                  PIK3CG (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000007.14:g.106868787T>A, NC_000007.14:g.106868787T>C, NC_000007.14:g.106868787T>G, NC_000007.13:g.106509232T>A, NC_000007.13:g.106509232T>C, NC_000007.13:g.106509232T>G, NG_050579.1:g.8510T>A, NG_050579.1:g.8510T>C, NG_050579.1:g.8510T>G, NM_002649.3:c.1226T>A, NM_002649.3:c.1226T>C, NM_002649.3:c.1226T>G, NM_002649.2:c.1226T>A, NM_002649.2:c.1226T>C, NM_002649.2:c.1226T>G, NM_001282426.2:c.1226T>A, NM_001282426.2:c.1226T>C, NM_001282426.2:c.1226T>G, NM_001282426.1:c.1226T>A, NM_001282426.1:c.1226T>C, NM_001282426.1:c.1226T>G, NM_001282427.2:c.1226T>A, NM_001282427.2:c.1226T>C, NM_001282427.2:c.1226T>G, NM_001282427.1:c.1226T>A, NM_001282427.1:c.1226T>C, NM_001282427.1:c.1226T>G, XM_005250443.4:c.1226T>A, XM_005250443.4:c.1226T>C, XM_005250443.4:c.1226T>G, XM_005250443.3:c.1226T>A, XM_005250443.3:c.1226T>C, XM_005250443.3:c.1226T>G, XM_005250443.2:c.1226T>A, XM_005250443.2:c.1226T>C, XM_005250443.2:c.1226T>G, XM_005250443.1:c.1226T>A, XM_005250443.1:c.1226T>C, XM_005250443.1:c.1226T>G, XM_017012328.2:c.1226T>A, XM_017012328.2:c.1226T>C, XM_017012328.2:c.1226T>G, XM_017012328.1:c.1226T>A, XM_017012328.1:c.1226T>C, XM_017012328.1:c.1226T>G, XM_011516316.2:c.1226T>A, XM_011516316.2:c.1226T>C, XM_011516316.2:c.1226T>G, XM_011516316.1:c.1226T>A, XM_011516316.1:c.1226T>C, XM_011516316.1:c.1226T>G, XM_011516317.2:c.1226T>A, XM_011516317.2:c.1226T>C, XM_011516317.2:c.1226T>G, XM_011516317.1:c.1226T>A, XM_011516317.1:c.1226T>C, XM_011516317.1:c.1226T>G, XM_047420479.1:c.1226T>A, XM_047420479.1:c.1226T>C, XM_047420479.1:c.1226T>G, XM_047420480.1:c.1226T>A, XM_047420480.1:c.1226T>C, XM_047420480.1:c.1226T>G, XM_047420481.1:c.1226T>A, XM_047420481.1:c.1226T>C, XM_047420481.1:c.1226T>G, NP_002640.2:p.Leu409Gln, NP_002640.2:p.Leu409Pro, NP_002640.2:p.Leu409Arg, NP_001269355.1:p.Leu409Gln, NP_001269355.1:p.Leu409Pro, NP_001269355.1:p.Leu409Arg, NP_001269356.1:p.Leu409Gln, NP_001269356.1:p.Leu409Pro, NP_001269356.1:p.Leu409Arg, XP_005250500.1:p.Leu409Gln, XP_005250500.1:p.Leu409Pro, XP_005250500.1:p.Leu409Arg, XP_016867817.1:p.Leu409Gln, XP_016867817.1:p.Leu409Pro, XP_016867817.1:p.Leu409Arg, XP_011514618.1:p.Leu409Gln, XP_011514618.1:p.Leu409Pro, XP_011514618.1:p.Leu409Arg, XP_011514619.1:p.Leu409Gln, XP_011514619.1:p.Leu409Pro, XP_011514619.1:p.Leu409Arg, XP_047276435.1:p.Leu409Gln, XP_047276435.1:p.Leu409Pro, XP_047276435.1:p.Leu409Arg, XP_047276436.1:p.Leu409Gln, XP_047276436.1:p.Leu409Pro, XP_047276436.1:p.Leu409Arg, XP_047276437.1:p.Leu409Gln, XP_047276437.1:p.Leu409Pro, XP_047276437.1:p.Leu409Arg
                                  20.

                                  rs1475518527 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G,T [Show Flanks]
                                    Chromosome:
                                    7:106905292 (GRCh38)
                                    7:106545737 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:106905291:A:C,NC_000007.14:106905291:A:G,NC_000007.14:106905291:A:T
                                    Gene:
                                    PIK3CG (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000007.14:g.106905292A>C, NC_000007.14:g.106905292A>G, NC_000007.14:g.106905292A>T, NC_000007.13:g.106545737A>C, NC_000007.13:g.106545737A>G, NC_000007.13:g.106545737A>T, NG_050579.1:g.45015A>C, NG_050579.1:g.45015A>G, NG_050579.1:g.45015A>T, NM_002649.3:c.3214A>C, NM_002649.3:c.3214A>G, NM_002649.3:c.3214A>T, NM_002649.2:c.3214A>C, NM_002649.2:c.3214A>G, NM_002649.2:c.3214A>T, NM_001282426.2:c.3214A>C, NM_001282426.2:c.3214A>G, NM_001282426.2:c.3214A>T, NM_001282426.1:c.3214A>C, NM_001282426.1:c.3214A>G, NM_001282426.1:c.3214A>T, NM_001282427.2:c.3214A>C, NM_001282427.2:c.3214A>G, NM_001282427.2:c.3214A>T, NM_001282427.1:c.3214A>C, NM_001282427.1:c.3214A>G, NM_001282427.1:c.3214A>T, XM_005250443.4:c.3214A>C, XM_005250443.4:c.3214A>G, XM_005250443.4:c.3214A>T, XM_005250443.3:c.3214A>C, XM_005250443.3:c.3214A>G, XM_005250443.3:c.3214A>T, XM_005250443.2:c.3214A>C, XM_005250443.2:c.3214A>G, XM_005250443.2:c.3214A>T, XM_005250443.1:c.3214A>C, XM_005250443.1:c.3214A>G, XM_005250443.1:c.3214A>T, NP_002640.2:p.Ile1072Leu, NP_002640.2:p.Ile1072Val, NP_002640.2:p.Ile1072Phe, NP_001269355.1:p.Ile1072Leu, NP_001269355.1:p.Ile1072Val, NP_001269355.1:p.Ile1072Phe, NP_001269356.1:p.Ile1072Leu, NP_001269356.1:p.Ile1072Val, NP_001269356.1:p.Ile1072Phe, XP_005250500.1:p.Ile1072Leu, XP_005250500.1:p.Ile1072Val, XP_005250500.1:p.Ile1072Phe

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