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Items: 1 to 20 of 831

1.

rs1490939727 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:9715930 (GRCh38)
    1:9775988 (GRCh37)
    Canonical SPDI:
    NC_000001.11:9715929:C:T
    Gene:
    PIK3CD (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.9715930C>T, NC_000001.10:g.9775988C>T, NG_023434.1:g.69199C>T, NM_005026.5:c.452C>T, NM_005026.4:c.452C>T, NM_005026.3:c.452C>T, NM_001350234.2:c.452C>T, NM_001350234.1:c.452C>T, NM_001350235.1:c.452C>T, XM_006710687.3:c.452C>T, XM_006710687.2:c.452C>T, XM_006710687.1:c.452C>T, XM_006710689.3:c.452C>T, XM_006710689.2:c.452C>T, XM_006710689.1:c.452C>T, XM_024447663.2:c.452C>T, XM_024447663.1:c.452C>T, XM_024447664.2:c.452C>T, XM_024447664.1:c.452C>T, XM_047422558.1:c.452C>T, XM_047422556.1:c.452C>T, XM_047422567.1:c.452C>T, XM_047422550.1:c.452C>T, XM_047422563.1:c.452C>T, XM_047422557.1:c.452C>T, XM_047422572.1:c.452C>T, XM_047422555.1:c.452C>T, XM_047422551.1:c.452C>T, XM_047422561.1:c.452C>T, XM_047422554.1:c.452C>T, XM_047422564.1:c.452C>T, XM_047422552.1:c.452C>T, XM_047422562.1:c.452C>T, XM_047422553.1:c.452C>T, XM_047422568.1:c.452C>T, XM_047422559.1:c.452C>T, XM_047422573.1:c.452C>T, XM_047422576.1:c.452C>T, XM_047422566.1:c.452C>T, XM_047422570.1:c.452C>T, XM_047422575.1:c.452C>T, XM_047422560.1:c.452C>T, XM_047422571.1:c.452C>T, XM_047422565.1:c.452C>T, XM_047422574.1:c.452C>T, XM_047422578.1:c.452C>T, XM_047422569.1:c.452C>T, XM_047422577.1:c.452C>T, XM_047422580.1:c.452C>T, XM_047422589.1:c.452C>T, NP_005017.3:p.Ala151Val, NP_001337163.1:p.Ala151Val, NP_001337164.1:p.Ala151Val, XP_006710750.1:p.Ala151Val, XP_006710752.1:p.Ala151Val, XP_024303431.1:p.Ala151Val, XP_024303432.1:p.Ala151Val, XP_047278514.1:p.Ala151Val, XP_047278512.1:p.Ala151Val, XP_047278523.1:p.Ala151Val, XP_047278506.1:p.Ala151Val, XP_047278519.1:p.Ala151Val, XP_047278513.1:p.Ala151Val, XP_047278528.1:p.Ala151Val, XP_047278511.1:p.Ala151Val, XP_047278507.1:p.Ala151Val, XP_047278517.1:p.Ala151Val, XP_047278510.1:p.Ala151Val, XP_047278520.1:p.Ala151Val, XP_047278508.1:p.Ala151Val, XP_047278518.1:p.Ala151Val, XP_047278509.1:p.Ala151Val, XP_047278524.1:p.Ala151Val, XP_047278515.1:p.Ala151Val, XP_047278529.1:p.Ala151Val, XP_047278532.1:p.Ala151Val, XP_047278522.1:p.Ala151Val, XP_047278526.1:p.Ala151Val, XP_047278531.1:p.Ala151Val, XP_047278516.1:p.Ala151Val, XP_047278527.1:p.Ala151Val, XP_047278521.1:p.Ala151Val, XP_047278530.1:p.Ala151Val, XP_047278534.1:p.Ala151Val, XP_047278525.1:p.Ala151Val, XP_047278533.1:p.Ala151Val, XP_047278536.1:p.Ala151Val, XP_047278545.1:p.Ala151Val

    2.

    rs1487319918 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      1:9720909 (GRCh38)
      1:9780967 (GRCh37)
      Canonical SPDI:
      NC_000001.11:9720908:G:T
      Gene:
      PIK3CD (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000005/1 (GnomAD_exomes)
      T=0.000011/3 (TOPMED)
      T=0.000021/3 (GnomAD)
      HGVS:
      NC_000001.11:g.9720909G>T, NC_000001.10:g.9780967G>T, NG_023434.1:g.74178G>T, NM_005026.5:c.1689G>T, NM_005026.4:c.1689G>T, NM_005026.3:c.1689G>T, NM_001350234.2:c.1686G>T, NM_001350234.1:c.1686G>T, NM_001350235.1:c.1602G>T, XM_006710687.3:c.1689G>T, XM_006710687.2:c.1689G>T, XM_006710687.1:c.1689G>T, XM_006710689.3:c.1689G>T, XM_006710689.2:c.1689G>T, XM_006710689.1:c.1689G>T, XM_024447663.2:c.1686G>T, XM_024447663.1:c.1686G>T, XM_024447664.2:c.1602G>T, XM_024447664.1:c.1602G>T, XM_047422558.1:c.1689G>T, XM_047422556.1:c.1689G>T, XM_047422567.1:c.1602G>T, XM_047422550.1:c.1689G>T, XM_047422563.1:c.1686G>T, XM_047422557.1:c.1689G>T, XM_047422572.1:c.1599G>T, XM_047422555.1:c.1689G>T, XM_047422551.1:c.1689G>T, XM_047422561.1:c.1686G>T, XM_047422554.1:c.1689G>T, XM_047422564.1:c.1686G>T, XM_047422552.1:c.1689G>T, XM_047422562.1:c.1686G>T, XM_047422553.1:c.1689G>T, XM_047422568.1:c.1602G>T, XM_047422559.1:c.1689G>T, XM_047422573.1:c.1599G>T, XM_047422576.1:c.1689G>T, XM_047422566.1:c.1602G>T, XM_047422570.1:c.1599G>T, XM_047422575.1:c.1689G>T, XM_047422560.1:c.1689G>T, XM_047422571.1:c.1599G>T, XM_047422565.1:c.1686G>T, XM_047422574.1:c.1689G>T, XM_047422578.1:c.1686G>T, XM_047422569.1:c.1602G>T, XM_047422577.1:c.1689G>T, XM_047422580.1:c.1689G>T, XM_047422589.1:c.1689G>T, NP_005017.3:p.Gln563His, NP_001337163.1:p.Gln562His, NP_001337164.1:p.Gln534His, XP_006710750.1:p.Gln563His, XP_006710752.1:p.Gln563His, XP_024303431.1:p.Gln562His, XP_024303432.1:p.Gln534His, XP_047278514.1:p.Gln563His, XP_047278512.1:p.Gln563His, XP_047278523.1:p.Gln534His, XP_047278506.1:p.Gln563His, XP_047278519.1:p.Gln562His, XP_047278513.1:p.Gln563His, XP_047278528.1:p.Gln533His, XP_047278511.1:p.Gln563His, XP_047278507.1:p.Gln563His, XP_047278517.1:p.Gln562His, XP_047278510.1:p.Gln563His, XP_047278520.1:p.Gln562His, XP_047278508.1:p.Gln563His, XP_047278518.1:p.Gln562His, XP_047278509.1:p.Gln563His, XP_047278524.1:p.Gln534His, XP_047278515.1:p.Gln563His, XP_047278529.1:p.Gln533His, XP_047278532.1:p.Gln563His, XP_047278522.1:p.Gln534His, XP_047278526.1:p.Gln533His, XP_047278531.1:p.Gln563His, XP_047278516.1:p.Gln563His, XP_047278527.1:p.Gln533His, XP_047278521.1:p.Gln562His, XP_047278530.1:p.Gln563His, XP_047278534.1:p.Gln562His, XP_047278525.1:p.Gln534His, XP_047278533.1:p.Gln563His, XP_047278536.1:p.Gln563His, XP_047278545.1:p.Gln563His

      3.

      rs1486776204 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:9722534 (GRCh38)
        1:9782592 (GRCh37)
        Canonical SPDI:
        NC_000001.11:9722533:G:A
        Gene:
        PIK3CD (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.9722534G>A, NC_000001.10:g.9782592G>A, NG_023434.1:g.75803G>A, NM_005026.5:c.2354G>A, NM_005026.4:c.2354G>A, NM_005026.3:c.2354G>A, NM_001350234.2:c.2351G>A, NM_001350234.1:c.2351G>A, NM_001350235.1:c.2267G>A, XM_006710687.3:c.2354G>A, XM_006710687.2:c.2354G>A, XM_006710687.1:c.2354G>A, XM_006710689.3:c.2354G>A, XM_006710689.2:c.2354G>A, XM_006710689.1:c.2354G>A, XM_024447663.2:c.2351G>A, XM_024447663.1:c.2351G>A, XM_024447664.2:c.2267G>A, XM_024447664.1:c.2267G>A, XM_047422558.1:c.2354G>A, XM_047422556.1:c.2354G>A, XM_047422567.1:c.2267G>A, XM_047422550.1:c.2354G>A, XM_047422563.1:c.2351G>A, XM_047422557.1:c.2354G>A, XM_047422572.1:c.2264G>A, XM_047422555.1:c.2354G>A, XM_047422551.1:c.2354G>A, XM_047422561.1:c.2351G>A, XM_047422554.1:c.2354G>A, XM_047422564.1:c.2351G>A, XM_047422552.1:c.2354G>A, XM_047422562.1:c.2351G>A, XM_047422553.1:c.2354G>A, XM_047422568.1:c.2267G>A, XM_047422559.1:c.2354G>A, XM_047422573.1:c.2264G>A, XM_047422576.1:c.2210G>A, XM_047422566.1:c.2267G>A, XM_047422570.1:c.2264G>A, XM_047422575.1:c.2210G>A, XM_047422560.1:c.2354G>A, XM_047422571.1:c.2264G>A, XM_047422565.1:c.2351G>A, XM_047422574.1:c.2210G>A, XM_047422578.1:c.2207G>A, XM_047422569.1:c.2267G>A, XM_047422577.1:c.2210G>A, XM_047422580.1:c.2354G>A, NP_005017.3:p.Arg785Gln, NP_001337163.1:p.Arg784Gln, NP_001337164.1:p.Arg756Gln, XP_006710750.1:p.Arg785Gln, XP_006710752.1:p.Arg785Gln, XP_024303431.1:p.Arg784Gln, XP_024303432.1:p.Arg756Gln, XP_047278514.1:p.Arg785Gln, XP_047278512.1:p.Arg785Gln, XP_047278523.1:p.Arg756Gln, XP_047278506.1:p.Arg785Gln, XP_047278519.1:p.Arg784Gln, XP_047278513.1:p.Arg785Gln, XP_047278528.1:p.Arg755Gln, XP_047278511.1:p.Arg785Gln, XP_047278507.1:p.Arg785Gln, XP_047278517.1:p.Arg784Gln, XP_047278510.1:p.Arg785Gln, XP_047278520.1:p.Arg784Gln, XP_047278508.1:p.Arg785Gln, XP_047278518.1:p.Arg784Gln, XP_047278509.1:p.Arg785Gln, XP_047278524.1:p.Arg756Gln, XP_047278515.1:p.Arg785Gln, XP_047278529.1:p.Arg755Gln, XP_047278532.1:p.Arg737Gln, XP_047278522.1:p.Arg756Gln, XP_047278526.1:p.Arg755Gln, XP_047278531.1:p.Arg737Gln, XP_047278516.1:p.Arg785Gln, XP_047278527.1:p.Arg755Gln, XP_047278521.1:p.Arg784Gln, XP_047278530.1:p.Arg737Gln, XP_047278534.1:p.Arg736Gln, XP_047278525.1:p.Arg756Gln, XP_047278533.1:p.Arg737Gln, XP_047278536.1:p.Arg785Gln

        4.

        rs1483926787 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          1:9717089 (GRCh38)
          1:9777147 (GRCh37)
          Canonical SPDI:
          NC_000001.11:9717088:C:G,NC_000001.11:9717088:C:T
          Gene:
          PIK3CD (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)
          HGVS:
          NC_000001.11:g.9717089C>G, NC_000001.11:g.9717089C>T, NC_000001.10:g.9777147C>G, NC_000001.10:g.9777147C>T, NG_023434.1:g.70358C>G, NG_023434.1:g.70358C>T, NM_005026.5:c.911C>G, NM_005026.5:c.911C>T, NM_005026.4:c.911C>G, NM_005026.4:c.911C>T, NM_005026.3:c.911C>G, NM_005026.3:c.911C>T, NM_001350234.2:c.911C>G, NM_001350234.2:c.911C>T, NM_001350234.1:c.911C>G, NM_001350234.1:c.911C>T, NM_001350235.1:c.824C>G, NM_001350235.1:c.824C>T, XM_006710687.3:c.911C>G, XM_006710687.3:c.911C>T, XM_006710687.2:c.911C>G, XM_006710687.2:c.911C>T, XM_006710687.1:c.911C>G, XM_006710687.1:c.911C>T, XM_006710689.3:c.911C>G, XM_006710689.3:c.911C>T, XM_006710689.2:c.911C>G, XM_006710689.2:c.911C>T, XM_006710689.1:c.911C>G, XM_006710689.1:c.911C>T, XM_024447663.2:c.911C>G, XM_024447663.2:c.911C>T, XM_024447663.1:c.911C>G, XM_024447663.1:c.911C>T, XM_024447664.2:c.824C>G, XM_024447664.2:c.824C>T, XM_024447664.1:c.824C>G, XM_024447664.1:c.824C>T, XM_047422558.1:c.911C>G, XM_047422558.1:c.911C>T, XM_047422556.1:c.911C>G, XM_047422556.1:c.911C>T, XM_047422567.1:c.824C>G, XM_047422567.1:c.824C>T, XM_047422550.1:c.911C>G, XM_047422550.1:c.911C>T, XM_047422563.1:c.911C>G, XM_047422563.1:c.911C>T, XM_047422557.1:c.911C>G, XM_047422557.1:c.911C>T, XM_047422572.1:c.824C>G, XM_047422572.1:c.824C>T, XM_047422555.1:c.911C>G, XM_047422555.1:c.911C>T, XM_047422551.1:c.911C>G, XM_047422551.1:c.911C>T, XM_047422561.1:c.911C>G, XM_047422561.1:c.911C>T, XM_047422554.1:c.911C>G, XM_047422554.1:c.911C>T, XM_047422564.1:c.911C>G, XM_047422564.1:c.911C>T, XM_047422552.1:c.911C>G, XM_047422552.1:c.911C>T, XM_047422562.1:c.911C>G, XM_047422562.1:c.911C>T, XM_047422553.1:c.911C>G, XM_047422553.1:c.911C>T, XM_047422568.1:c.824C>G, XM_047422568.1:c.824C>T, XM_047422559.1:c.911C>G, XM_047422559.1:c.911C>T, XM_047422573.1:c.824C>G, XM_047422573.1:c.824C>T, XM_047422576.1:c.911C>G, XM_047422576.1:c.911C>T, XM_047422566.1:c.824C>G, XM_047422566.1:c.824C>T, XM_047422570.1:c.824C>G, XM_047422570.1:c.824C>T, XM_047422575.1:c.911C>G, XM_047422575.1:c.911C>T, XM_047422560.1:c.911C>G, XM_047422560.1:c.911C>T, XM_047422571.1:c.824C>G, XM_047422571.1:c.824C>T, XM_047422565.1:c.911C>G, XM_047422565.1:c.911C>T, XM_047422574.1:c.911C>G, XM_047422574.1:c.911C>T, XM_047422578.1:c.911C>G, XM_047422578.1:c.911C>T, XM_047422569.1:c.824C>G, XM_047422569.1:c.824C>T, XM_047422577.1:c.911C>G, XM_047422577.1:c.911C>T, XM_047422580.1:c.911C>G, XM_047422580.1:c.911C>T, XM_047422589.1:c.911C>G, XM_047422589.1:c.911C>T, NP_005017.3:p.Pro304Arg, NP_005017.3:p.Pro304Leu, NP_001337163.1:p.Pro304Arg, NP_001337163.1:p.Pro304Leu, NP_001337164.1:p.Pro275Arg, NP_001337164.1:p.Pro275Leu, XP_006710750.1:p.Pro304Arg, XP_006710750.1:p.Pro304Leu, XP_006710752.1:p.Pro304Arg, XP_006710752.1:p.Pro304Leu, XP_024303431.1:p.Pro304Arg, XP_024303431.1:p.Pro304Leu, XP_024303432.1:p.Pro275Arg, XP_024303432.1:p.Pro275Leu, XP_047278514.1:p.Pro304Arg, XP_047278514.1:p.Pro304Leu, XP_047278512.1:p.Pro304Arg, XP_047278512.1:p.Pro304Leu, XP_047278523.1:p.Pro275Arg, XP_047278523.1:p.Pro275Leu, XP_047278506.1:p.Pro304Arg, XP_047278506.1:p.Pro304Leu, XP_047278519.1:p.Pro304Arg, XP_047278519.1:p.Pro304Leu, XP_047278513.1:p.Pro304Arg, XP_047278513.1:p.Pro304Leu, XP_047278528.1:p.Pro275Arg, XP_047278528.1:p.Pro275Leu, XP_047278511.1:p.Pro304Arg, XP_047278511.1:p.Pro304Leu, XP_047278507.1:p.Pro304Arg, XP_047278507.1:p.Pro304Leu, XP_047278517.1:p.Pro304Arg, XP_047278517.1:p.Pro304Leu, XP_047278510.1:p.Pro304Arg, XP_047278510.1:p.Pro304Leu, XP_047278520.1:p.Pro304Arg, XP_047278520.1:p.Pro304Leu, XP_047278508.1:p.Pro304Arg, XP_047278508.1:p.Pro304Leu, XP_047278518.1:p.Pro304Arg, XP_047278518.1:p.Pro304Leu, XP_047278509.1:p.Pro304Arg, XP_047278509.1:p.Pro304Leu, XP_047278524.1:p.Pro275Arg, XP_047278524.1:p.Pro275Leu, XP_047278515.1:p.Pro304Arg, XP_047278515.1:p.Pro304Leu, XP_047278529.1:p.Pro275Arg, XP_047278529.1:p.Pro275Leu, XP_047278532.1:p.Pro304Arg, XP_047278532.1:p.Pro304Leu, XP_047278522.1:p.Pro275Arg, XP_047278522.1:p.Pro275Leu, XP_047278526.1:p.Pro275Arg, XP_047278526.1:p.Pro275Leu, XP_047278531.1:p.Pro304Arg, XP_047278531.1:p.Pro304Leu, XP_047278516.1:p.Pro304Arg, XP_047278516.1:p.Pro304Leu, XP_047278527.1:p.Pro275Arg, XP_047278527.1:p.Pro275Leu, XP_047278521.1:p.Pro304Arg, XP_047278521.1:p.Pro304Leu, XP_047278530.1:p.Pro304Arg, XP_047278530.1:p.Pro304Leu, XP_047278534.1:p.Pro304Arg, XP_047278534.1:p.Pro304Leu, XP_047278525.1:p.Pro275Arg, XP_047278525.1:p.Pro275Leu, XP_047278533.1:p.Pro304Arg, XP_047278533.1:p.Pro304Leu, XP_047278536.1:p.Pro304Arg, XP_047278536.1:p.Pro304Leu, XP_047278545.1:p.Pro304Arg, XP_047278545.1:p.Pro304Leu

          5.

          rs1483906131 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:9717087 (GRCh38)
            1:9777145 (GRCh37)
            Canonical SPDI:
            NC_000001.11:9717086:A:G
            Gene:
            PIK3CD (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.9717087A>G, NC_000001.10:g.9777145A>G, NG_023434.1:g.70356A>G, NM_005026.5:c.909A>G, NM_005026.4:c.909A>G, NM_005026.3:c.909A>G, NM_001350234.2:c.909A>G, NM_001350234.1:c.909A>G, NM_001350235.1:c.822A>G, XM_006710687.3:c.909A>G, XM_006710687.2:c.909A>G, XM_006710687.1:c.909A>G, XM_006710689.3:c.909A>G, XM_006710689.2:c.909A>G, XM_006710689.1:c.909A>G, XM_024447663.2:c.909A>G, XM_024447663.1:c.909A>G, XM_024447664.2:c.822A>G, XM_024447664.1:c.822A>G, XM_047422558.1:c.909A>G, XM_047422556.1:c.909A>G, XM_047422567.1:c.822A>G, XM_047422550.1:c.909A>G, XM_047422563.1:c.909A>G, XM_047422557.1:c.909A>G, XM_047422572.1:c.822A>G, XM_047422555.1:c.909A>G, XM_047422551.1:c.909A>G, XM_047422561.1:c.909A>G, XM_047422554.1:c.909A>G, XM_047422564.1:c.909A>G, XM_047422552.1:c.909A>G, XM_047422562.1:c.909A>G, XM_047422553.1:c.909A>G, XM_047422568.1:c.822A>G, XM_047422559.1:c.909A>G, XM_047422573.1:c.822A>G, XM_047422576.1:c.909A>G, XM_047422566.1:c.822A>G, XM_047422570.1:c.822A>G, XM_047422575.1:c.909A>G, XM_047422560.1:c.909A>G, XM_047422571.1:c.822A>G, XM_047422565.1:c.909A>G, XM_047422574.1:c.909A>G, XM_047422578.1:c.909A>G, XM_047422569.1:c.822A>G, XM_047422577.1:c.909A>G, XM_047422580.1:c.909A>G, XM_047422589.1:c.909A>G

            6.

            rs1482648183 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:9716598 (GRCh38)
              1:9776656 (GRCh37)
              Canonical SPDI:
              NC_000001.11:9716597:C:T
              Gene:
              PIK3CD (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000017/3 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.9716598C>T, NC_000001.10:g.9776656C>T, NG_023434.1:g.69867C>T, NM_005026.5:c.759C>T, NM_005026.4:c.759C>T, NM_005026.3:c.759C>T, NM_001350234.2:c.759C>T, NM_001350234.1:c.759C>T, NM_001350235.1:c.759C>T, XM_006710687.3:c.759C>T, XM_006710687.2:c.759C>T, XM_006710687.1:c.759C>T, XM_006710689.3:c.759C>T, XM_006710689.2:c.759C>T, XM_006710689.1:c.759C>T, XM_024447663.2:c.759C>T, XM_024447663.1:c.759C>T, XM_024447664.2:c.759C>T, XM_024447664.1:c.759C>T, XM_047422558.1:c.759C>T, XM_047422556.1:c.759C>T, XM_047422567.1:c.759C>T, XM_047422550.1:c.759C>T, XM_047422563.1:c.759C>T, XM_047422557.1:c.759C>T, XM_047422572.1:c.759C>T, XM_047422555.1:c.759C>T, XM_047422551.1:c.759C>T, XM_047422561.1:c.759C>T, XM_047422554.1:c.759C>T, XM_047422564.1:c.759C>T, XM_047422552.1:c.759C>T, XM_047422562.1:c.759C>T, XM_047422553.1:c.759C>T, XM_047422568.1:c.759C>T, XM_047422559.1:c.759C>T, XM_047422573.1:c.759C>T, XM_047422576.1:c.759C>T, XM_047422566.1:c.759C>T, XM_047422570.1:c.759C>T, XM_047422575.1:c.759C>T, XM_047422560.1:c.759C>T, XM_047422571.1:c.759C>T, XM_047422565.1:c.759C>T, XM_047422574.1:c.759C>T, XM_047422578.1:c.759C>T, XM_047422569.1:c.759C>T, XM_047422577.1:c.759C>T, XM_047422580.1:c.759C>T, XM_047422589.1:c.759C>T

              7.

              rs1481897966 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:9722024 (GRCh38)
                1:9782082 (GRCh37)
                Canonical SPDI:
                NC_000001.11:9722023:G:A
                Gene:
                PIK3CD (Varview)
                Functional Consequence:
                downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.9722024G>A, NC_000001.10:g.9782082G>A, NG_023434.1:g.75293G>A, NM_005026.5:c.2105G>A, NM_005026.4:c.2105G>A, NM_005026.3:c.2105G>A, NM_001350234.2:c.2102G>A, NM_001350234.1:c.2102G>A, NM_001350235.1:c.2018G>A, XM_006710687.3:c.2105G>A, XM_006710687.2:c.2105G>A, XM_006710687.1:c.2105G>A, XM_006710689.3:c.2105G>A, XM_006710689.2:c.2105G>A, XM_006710689.1:c.2105G>A, XM_024447663.2:c.2102G>A, XM_024447663.1:c.2102G>A, XM_024447664.2:c.2018G>A, XM_024447664.1:c.2018G>A, XM_047422558.1:c.2105G>A, XM_047422556.1:c.2105G>A, XM_047422567.1:c.2018G>A, XM_047422550.1:c.2105G>A, XM_047422563.1:c.2102G>A, XM_047422557.1:c.2105G>A, XM_047422572.1:c.2015G>A, XM_047422555.1:c.2105G>A, XM_047422551.1:c.2105G>A, XM_047422561.1:c.2102G>A, XM_047422554.1:c.2105G>A, XM_047422564.1:c.2102G>A, XM_047422552.1:c.2105G>A, XM_047422562.1:c.2102G>A, XM_047422553.1:c.2105G>A, XM_047422568.1:c.2018G>A, XM_047422559.1:c.2105G>A, XM_047422573.1:c.2015G>A, XM_047422576.1:c.1961G>A, XM_047422566.1:c.2018G>A, XM_047422570.1:c.2015G>A, XM_047422575.1:c.1961G>A, XM_047422560.1:c.2105G>A, XM_047422571.1:c.2015G>A, XM_047422565.1:c.2102G>A, XM_047422574.1:c.1961G>A, XM_047422578.1:c.1958G>A, XM_047422569.1:c.2018G>A, XM_047422577.1:c.1961G>A, XM_047422580.1:c.2105G>A, NP_005017.3:p.Ser702Asn, NP_001337163.1:p.Ser701Asn, NP_001337164.1:p.Ser673Asn, XP_006710750.1:p.Ser702Asn, XP_006710752.1:p.Ser702Asn, XP_024303431.1:p.Ser701Asn, XP_024303432.1:p.Ser673Asn, XP_047278514.1:p.Ser702Asn, XP_047278512.1:p.Ser702Asn, XP_047278523.1:p.Ser673Asn, XP_047278506.1:p.Ser702Asn, XP_047278519.1:p.Ser701Asn, XP_047278513.1:p.Ser702Asn, XP_047278528.1:p.Ser672Asn, XP_047278511.1:p.Ser702Asn, XP_047278507.1:p.Ser702Asn, XP_047278517.1:p.Ser701Asn, XP_047278510.1:p.Ser702Asn, XP_047278520.1:p.Ser701Asn, XP_047278508.1:p.Ser702Asn, XP_047278518.1:p.Ser701Asn, XP_047278509.1:p.Ser702Asn, XP_047278524.1:p.Ser673Asn, XP_047278515.1:p.Ser702Asn, XP_047278529.1:p.Ser672Asn, XP_047278532.1:p.Ser654Asn, XP_047278522.1:p.Ser673Asn, XP_047278526.1:p.Ser672Asn, XP_047278531.1:p.Ser654Asn, XP_047278516.1:p.Ser702Asn, XP_047278527.1:p.Ser672Asn, XP_047278521.1:p.Ser701Asn, XP_047278530.1:p.Ser654Asn, XP_047278534.1:p.Ser653Asn, XP_047278525.1:p.Ser673Asn, XP_047278533.1:p.Ser654Asn, XP_047278536.1:p.Ser702Asn

                8.

                rs1481780395 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:9718752 (GRCh38)
                  1:9778810 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:9718751:G:A
                  Gene:
                  PIK3CD (Varview), LOC124903839 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000001.11:g.9718752G>A, NC_000001.10:g.9778810G>A, NG_023434.1:g.72021G>A, NM_005026.5:c.1079G>A, NM_005026.4:c.1079G>A, NM_005026.3:c.1079G>A, NM_001350234.2:c.1079G>A, NM_001350234.1:c.1079G>A, NM_001350235.1:c.992G>A, XM_006710687.3:c.1079G>A, XM_006710687.2:c.1079G>A, XM_006710687.1:c.1079G>A, XM_006710689.3:c.1079G>A, XM_006710689.2:c.1079G>A, XM_006710689.1:c.1079G>A, XM_024447663.2:c.1079G>A, XM_024447663.1:c.1079G>A, XM_024447664.2:c.992G>A, XM_024447664.1:c.992G>A, XM_047422558.1:c.1079G>A, XM_047422556.1:c.1079G>A, XM_047422567.1:c.992G>A, XM_047422550.1:c.1079G>A, XM_047422563.1:c.1079G>A, XM_047422557.1:c.1079G>A, XM_047422572.1:c.992G>A, XM_047422555.1:c.1079G>A, XM_047422551.1:c.1079G>A, XM_047422561.1:c.1079G>A, XM_047422554.1:c.1079G>A, XM_047422564.1:c.1079G>A, XM_047422552.1:c.1079G>A, XM_047422562.1:c.1079G>A, XM_047422553.1:c.1079G>A, XM_047422568.1:c.992G>A, XM_047422559.1:c.1079G>A, XM_047422573.1:c.992G>A, XM_047422576.1:c.1079G>A, XM_047422566.1:c.992G>A, XM_047422570.1:c.992G>A, XM_047422575.1:c.1079G>A, XM_047422560.1:c.1079G>A, XM_047422571.1:c.992G>A, XM_047422565.1:c.1079G>A, XM_047422574.1:c.1079G>A, XM_047422578.1:c.1079G>A, XM_047422569.1:c.992G>A, XM_047422577.1:c.1079G>A, XM_047422580.1:c.1079G>A, XM_047422589.1:c.1079G>A, NP_005017.3:p.Ser360Asn, NP_001337163.1:p.Ser360Asn, NP_001337164.1:p.Ser331Asn, XP_006710750.1:p.Ser360Asn, XP_006710752.1:p.Ser360Asn, XP_024303431.1:p.Ser360Asn, XP_024303432.1:p.Ser331Asn, XP_047278514.1:p.Ser360Asn, XP_047278512.1:p.Ser360Asn, XP_047278523.1:p.Ser331Asn, XP_047278506.1:p.Ser360Asn, XP_047278519.1:p.Ser360Asn, XP_047278513.1:p.Ser360Asn, XP_047278528.1:p.Ser331Asn, XP_047278511.1:p.Ser360Asn, XP_047278507.1:p.Ser360Asn, XP_047278517.1:p.Ser360Asn, XP_047278510.1:p.Ser360Asn, XP_047278520.1:p.Ser360Asn, XP_047278508.1:p.Ser360Asn, XP_047278518.1:p.Ser360Asn, XP_047278509.1:p.Ser360Asn, XP_047278524.1:p.Ser331Asn, XP_047278515.1:p.Ser360Asn, XP_047278529.1:p.Ser331Asn, XP_047278532.1:p.Ser360Asn, XP_047278522.1:p.Ser331Asn, XP_047278526.1:p.Ser331Asn, XP_047278531.1:p.Ser360Asn, XP_047278516.1:p.Ser360Asn, XP_047278527.1:p.Ser331Asn, XP_047278521.1:p.Ser360Asn, XP_047278530.1:p.Ser360Asn, XP_047278534.1:p.Ser360Asn, XP_047278525.1:p.Ser331Asn, XP_047278533.1:p.Ser360Asn, XP_047278536.1:p.Ser360Asn, XP_047278545.1:p.Ser360Asn

                  9.

                  rs1481648279 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:9716616 (GRCh38)
                    1:9776674 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:9716615:C:T
                    Gene:
                    PIK3CD (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_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_000001.11:g.9716616C>T, NC_000001.10:g.9776674C>T, NG_023434.1:g.69885C>T, NM_005026.5:c.777C>T, NM_005026.4:c.777C>T, NM_005026.3:c.777C>T, NM_001350234.2:c.777C>T, NM_001350234.1:c.777C>T, NM_001350235.1:c.777C>T, XM_006710687.3:c.777C>T, XM_006710687.2:c.777C>T, XM_006710687.1:c.777C>T, XM_006710689.3:c.777C>T, XM_006710689.2:c.777C>T, XM_006710689.1:c.777C>T, XM_024447663.2:c.777C>T, XM_024447663.1:c.777C>T, XM_024447664.2:c.777C>T, XM_024447664.1:c.777C>T, XM_047422558.1:c.777C>T, XM_047422556.1:c.777C>T, XM_047422567.1:c.777C>T, XM_047422550.1:c.777C>T, XM_047422563.1:c.777C>T, XM_047422557.1:c.777C>T, XM_047422572.1:c.777C>T, XM_047422555.1:c.777C>T, XM_047422551.1:c.777C>T, XM_047422561.1:c.777C>T, XM_047422554.1:c.777C>T, XM_047422564.1:c.777C>T, XM_047422552.1:c.777C>T, XM_047422562.1:c.777C>T, XM_047422553.1:c.777C>T, XM_047422568.1:c.777C>T, XM_047422559.1:c.777C>T, XM_047422573.1:c.777C>T, XM_047422576.1:c.777C>T, XM_047422566.1:c.777C>T, XM_047422570.1:c.777C>T, XM_047422575.1:c.777C>T, XM_047422560.1:c.777C>T, XM_047422571.1:c.777C>T, XM_047422565.1:c.777C>T, XM_047422574.1:c.777C>T, XM_047422578.1:c.777C>T, XM_047422569.1:c.777C>T, XM_047422577.1:c.777C>T, XM_047422580.1:c.777C>T, XM_047422589.1:c.777C>T

                    10.

                    rs1481047336 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      1:9721993 (GRCh38)
                      1:9782051 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:9721992:C:G
                      Gene:
                      PIK3CD (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.9721993C>G, NC_000001.10:g.9782051C>G, NG_023434.1:g.75262C>G, NM_005026.5:c.2074C>G, NM_005026.4:c.2074C>G, NM_005026.3:c.2074C>G, NM_001350234.2:c.2071C>G, NM_001350234.1:c.2071C>G, NM_001350235.1:c.1987C>G, XM_006710687.3:c.2074C>G, XM_006710687.2:c.2074C>G, XM_006710687.1:c.2074C>G, XM_006710689.3:c.2074C>G, XM_006710689.2:c.2074C>G, XM_006710689.1:c.2074C>G, XM_024447663.2:c.2071C>G, XM_024447663.1:c.2071C>G, XM_024447664.2:c.1987C>G, XM_024447664.1:c.1987C>G, XM_047422558.1:c.2074C>G, XM_047422556.1:c.2074C>G, XM_047422567.1:c.1987C>G, XM_047422550.1:c.2074C>G, XM_047422563.1:c.2071C>G, XM_047422557.1:c.2074C>G, XM_047422572.1:c.1984C>G, XM_047422555.1:c.2074C>G, XM_047422551.1:c.2074C>G, XM_047422561.1:c.2071C>G, XM_047422554.1:c.2074C>G, XM_047422564.1:c.2071C>G, XM_047422552.1:c.2074C>G, XM_047422562.1:c.2071C>G, XM_047422553.1:c.2074C>G, XM_047422568.1:c.1987C>G, XM_047422559.1:c.2074C>G, XM_047422573.1:c.1984C>G, XM_047422576.1:c.1930C>G, XM_047422566.1:c.1987C>G, XM_047422570.1:c.1984C>G, XM_047422575.1:c.1930C>G, XM_047422560.1:c.2074C>G, XM_047422571.1:c.1984C>G, XM_047422565.1:c.2071C>G, XM_047422574.1:c.1930C>G, XM_047422578.1:c.1927C>G, XM_047422569.1:c.1987C>G, XM_047422577.1:c.1930C>G, XM_047422580.1:c.2074C>G, NP_005017.3:p.Leu692Val, NP_001337163.1:p.Leu691Val, NP_001337164.1:p.Leu663Val, XP_006710750.1:p.Leu692Val, XP_006710752.1:p.Leu692Val, XP_024303431.1:p.Leu691Val, XP_024303432.1:p.Leu663Val, XP_047278514.1:p.Leu692Val, XP_047278512.1:p.Leu692Val, XP_047278523.1:p.Leu663Val, XP_047278506.1:p.Leu692Val, XP_047278519.1:p.Leu691Val, XP_047278513.1:p.Leu692Val, XP_047278528.1:p.Leu662Val, XP_047278511.1:p.Leu692Val, XP_047278507.1:p.Leu692Val, XP_047278517.1:p.Leu691Val, XP_047278510.1:p.Leu692Val, XP_047278520.1:p.Leu691Val, XP_047278508.1:p.Leu692Val, XP_047278518.1:p.Leu691Val, XP_047278509.1:p.Leu692Val, XP_047278524.1:p.Leu663Val, XP_047278515.1:p.Leu692Val, XP_047278529.1:p.Leu662Val, XP_047278532.1:p.Leu644Val, XP_047278522.1:p.Leu663Val, XP_047278526.1:p.Leu662Val, XP_047278531.1:p.Leu644Val, XP_047278516.1:p.Leu692Val, XP_047278527.1:p.Leu662Val, XP_047278521.1:p.Leu691Val, XP_047278530.1:p.Leu644Val, XP_047278534.1:p.Leu643Val, XP_047278525.1:p.Leu663Val, XP_047278533.1:p.Leu644Val, XP_047278536.1:p.Leu692Val

                      11.

                      rs1477333023 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:9722045 (GRCh38)
                        1:9782103 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:9722044:C:T
                        Gene:
                        PIK3CD (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.9722045C>T, NC_000001.10:g.9782103C>T, NG_023434.1:g.75314C>T, NM_005026.5:c.2126C>T, NM_005026.4:c.2126C>T, NM_005026.3:c.2126C>T, NM_001350234.2:c.2123C>T, NM_001350234.1:c.2123C>T, NM_001350235.1:c.2039C>T, XM_006710687.3:c.2126C>T, XM_006710687.2:c.2126C>T, XM_006710687.1:c.2126C>T, XM_006710689.3:c.2126C>T, XM_006710689.2:c.2126C>T, XM_006710689.1:c.2126C>T, XM_024447663.2:c.2123C>T, XM_024447663.1:c.2123C>T, XM_024447664.2:c.2039C>T, XM_024447664.1:c.2039C>T, XM_047422558.1:c.2126C>T, XM_047422556.1:c.2126C>T, XM_047422567.1:c.2039C>T, XM_047422550.1:c.2126C>T, XM_047422563.1:c.2123C>T, XM_047422557.1:c.2126C>T, XM_047422572.1:c.2036C>T, XM_047422555.1:c.2126C>T, XM_047422551.1:c.2126C>T, XM_047422561.1:c.2123C>T, XM_047422554.1:c.2126C>T, XM_047422564.1:c.2123C>T, XM_047422552.1:c.2126C>T, XM_047422562.1:c.2123C>T, XM_047422553.1:c.2126C>T, XM_047422568.1:c.2039C>T, XM_047422559.1:c.2126C>T, XM_047422573.1:c.2036C>T, XM_047422576.1:c.1982C>T, XM_047422566.1:c.2039C>T, XM_047422570.1:c.2036C>T, XM_047422575.1:c.1982C>T, XM_047422560.1:c.2126C>T, XM_047422571.1:c.2036C>T, XM_047422565.1:c.2123C>T, XM_047422574.1:c.1982C>T, XM_047422578.1:c.1979C>T, XM_047422569.1:c.2039C>T, XM_047422577.1:c.1982C>T, XM_047422580.1:c.2126C>T, NP_005017.3:p.Pro709Leu, NP_001337163.1:p.Pro708Leu, NP_001337164.1:p.Pro680Leu, XP_006710750.1:p.Pro709Leu, XP_006710752.1:p.Pro709Leu, XP_024303431.1:p.Pro708Leu, XP_024303432.1:p.Pro680Leu, XP_047278514.1:p.Pro709Leu, XP_047278512.1:p.Pro709Leu, XP_047278523.1:p.Pro680Leu, XP_047278506.1:p.Pro709Leu, XP_047278519.1:p.Pro708Leu, XP_047278513.1:p.Pro709Leu, XP_047278528.1:p.Pro679Leu, XP_047278511.1:p.Pro709Leu, XP_047278507.1:p.Pro709Leu, XP_047278517.1:p.Pro708Leu, XP_047278510.1:p.Pro709Leu, XP_047278520.1:p.Pro708Leu, XP_047278508.1:p.Pro709Leu, XP_047278518.1:p.Pro708Leu, XP_047278509.1:p.Pro709Leu, XP_047278524.1:p.Pro680Leu, XP_047278515.1:p.Pro709Leu, XP_047278529.1:p.Pro679Leu, XP_047278532.1:p.Pro661Leu, XP_047278522.1:p.Pro680Leu, XP_047278526.1:p.Pro679Leu, XP_047278531.1:p.Pro661Leu, XP_047278516.1:p.Pro709Leu, XP_047278527.1:p.Pro679Leu, XP_047278521.1:p.Pro708Leu, XP_047278530.1:p.Pro661Leu, XP_047278534.1:p.Pro660Leu, XP_047278525.1:p.Pro680Leu, XP_047278533.1:p.Pro661Leu, XP_047278536.1:p.Pro709Leu

                        12.

                        rs1477321621 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:9721210 (GRCh38)
                          1:9781268 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:9721209:C:T
                          Gene:
                          PIK3CD (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000026/7 (TOPMED)
                          T=0.000029/4 (GnomAD)
                          T=0.000071/1 (TOMMO)
                          T=0.001092/2 (Korea1K)
                          HGVS:
                          NC_000001.11:g.9721210C>T, NC_000001.10:g.9781268C>T, NG_023434.1:g.74479C>T, NM_005026.5:c.1773C>T, NM_005026.4:c.1773C>T, NM_005026.3:c.1773C>T, NM_001350234.2:c.1770C>T, NM_001350234.1:c.1770C>T, NM_001350235.1:c.1686C>T, XM_006710687.3:c.1773C>T, XM_006710687.2:c.1773C>T, XM_006710687.1:c.1773C>T, XM_006710689.3:c.1773C>T, XM_006710689.2:c.1773C>T, XM_006710689.1:c.1773C>T, XM_024447663.2:c.1770C>T, XM_024447663.1:c.1770C>T, XM_024447664.2:c.1686C>T, XM_024447664.1:c.1686C>T, XM_047422558.1:c.1773C>T, XM_047422556.1:c.1773C>T, XM_047422567.1:c.1686C>T, XM_047422550.1:c.1773C>T, XM_047422563.1:c.1770C>T, XM_047422557.1:c.1773C>T, XM_047422572.1:c.1683C>T, XM_047422555.1:c.1773C>T, XM_047422551.1:c.1773C>T, XM_047422561.1:c.1770C>T, XM_047422554.1:c.1773C>T, XM_047422564.1:c.1770C>T, XM_047422552.1:c.1773C>T, XM_047422562.1:c.1770C>T, XM_047422553.1:c.1773C>T, XM_047422568.1:c.1686C>T, XM_047422559.1:c.1773C>T, XM_047422573.1:c.1683C>T, XM_047422576.1:c.1773C>T, XM_047422566.1:c.1686C>T, XM_047422570.1:c.1683C>T, XM_047422575.1:c.1773C>T, XM_047422560.1:c.1773C>T, XM_047422571.1:c.1683C>T, XM_047422565.1:c.1770C>T, XM_047422574.1:c.1773C>T, XM_047422578.1:c.1770C>T, XM_047422569.1:c.1686C>T, XM_047422577.1:c.1773C>T, XM_047422580.1:c.1773C>T, XM_047422589.1:c.1773C>T

                          13.

                          rs1472755790 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            1:9717560 (GRCh38)
                            1:9777618 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:9717559:C:A
                            Gene:
                            PIK3CD (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.9717560C>A, NC_000001.10:g.9777618C>A, NG_023434.1:g.70829C>A, NM_005026.5:c.954C>A, NM_005026.4:c.954C>A, NM_005026.3:c.954C>A, NM_001350234.2:c.954C>A, NM_001350234.1:c.954C>A, NM_001350235.1:c.867C>A, XM_006710687.3:c.954C>A, XM_006710687.2:c.954C>A, XM_006710687.1:c.954C>A, XM_006710689.3:c.954C>A, XM_006710689.2:c.954C>A, XM_006710689.1:c.954C>A, XM_024447663.2:c.954C>A, XM_024447663.1:c.954C>A, XM_024447664.2:c.867C>A, XM_024447664.1:c.867C>A, XM_047422558.1:c.954C>A, XM_047422556.1:c.954C>A, XM_047422567.1:c.867C>A, XM_047422550.1:c.954C>A, XM_047422563.1:c.954C>A, XM_047422557.1:c.954C>A, XM_047422572.1:c.867C>A, XM_047422555.1:c.954C>A, XM_047422551.1:c.954C>A, XM_047422561.1:c.954C>A, XM_047422554.1:c.954C>A, XM_047422564.1:c.954C>A, XM_047422552.1:c.954C>A, XM_047422562.1:c.954C>A, XM_047422553.1:c.954C>A, XM_047422568.1:c.867C>A, XM_047422559.1:c.954C>A, XM_047422573.1:c.867C>A, XM_047422576.1:c.954C>A, XM_047422566.1:c.867C>A, XM_047422570.1:c.867C>A, XM_047422575.1:c.954C>A, XM_047422560.1:c.954C>A, XM_047422571.1:c.867C>A, XM_047422565.1:c.954C>A, XM_047422574.1:c.954C>A, XM_047422578.1:c.954C>A, XM_047422569.1:c.867C>A, XM_047422577.1:c.954C>A, XM_047422580.1:c.954C>A, XM_047422589.1:c.954C>A

                            14.

                            rs1472540265 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:9716535 (GRCh38)
                              1:9776593 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:9716534:G:T
                              Gene:
                              PIK3CD (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.9716535G>T, NC_000001.10:g.9776593G>T, NG_023434.1:g.69804G>T, NM_005026.5:c.696G>T, NM_005026.4:c.696G>T, NM_005026.3:c.696G>T, NM_001350234.2:c.696G>T, NM_001350234.1:c.696G>T, NM_001350235.1:c.696G>T, XM_006710687.3:c.696G>T, XM_006710687.2:c.696G>T, XM_006710687.1:c.696G>T, XM_006710689.3:c.696G>T, XM_006710689.2:c.696G>T, XM_006710689.1:c.696G>T, XM_024447663.2:c.696G>T, XM_024447663.1:c.696G>T, XM_024447664.2:c.696G>T, XM_024447664.1:c.696G>T, XM_047422558.1:c.696G>T, XM_047422556.1:c.696G>T, XM_047422567.1:c.696G>T, XM_047422550.1:c.696G>T, XM_047422563.1:c.696G>T, XM_047422557.1:c.696G>T, XM_047422572.1:c.696G>T, XM_047422555.1:c.696G>T, XM_047422551.1:c.696G>T, XM_047422561.1:c.696G>T, XM_047422554.1:c.696G>T, XM_047422564.1:c.696G>T, XM_047422552.1:c.696G>T, XM_047422562.1:c.696G>T, XM_047422553.1:c.696G>T, XM_047422568.1:c.696G>T, XM_047422559.1:c.696G>T, XM_047422573.1:c.696G>T, XM_047422576.1:c.696G>T, XM_047422566.1:c.696G>T, XM_047422570.1:c.696G>T, XM_047422575.1:c.696G>T, XM_047422560.1:c.696G>T, XM_047422571.1:c.696G>T, XM_047422565.1:c.696G>T, XM_047422574.1:c.696G>T, XM_047422578.1:c.696G>T, XM_047422569.1:c.696G>T, XM_047422577.1:c.696G>T, XM_047422580.1:c.696G>T, XM_047422589.1:c.696G>T

                              15.

                              rs1469618469 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                1:9720114 (GRCh38)
                                1:9780172 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:9720113:G:C
                                Gene:
                                PIK3CD (Varview), LOC124903839 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.9720114G>C, NC_000001.10:g.9780172G>C, NG_023434.1:g.73383G>C, NM_005026.5:c.1342G>C, NM_005026.4:c.1342G>C, NM_005026.3:c.1342G>C, NM_001350234.2:c.1342G>C, NM_001350234.1:c.1342G>C, NM_001350235.1:c.1255G>C, NG_081936.1:g.1359G>C, XM_006710687.3:c.1342G>C, XM_006710687.2:c.1342G>C, XM_006710687.1:c.1342G>C, XM_006710689.3:c.1342G>C, XM_006710689.2:c.1342G>C, XM_006710689.1:c.1342G>C, XM_024447663.2:c.1342G>C, XM_024447663.1:c.1342G>C, XM_024447664.2:c.1255G>C, XM_024447664.1:c.1255G>C, XM_047422558.1:c.1342G>C, XM_047422556.1:c.1342G>C, XM_047422567.1:c.1255G>C, XM_047422550.1:c.1342G>C, XM_047422563.1:c.1342G>C, XM_047422557.1:c.1342G>C, XM_047422572.1:c.1255G>C, XM_047422555.1:c.1342G>C, XM_047422551.1:c.1342G>C, XM_047422561.1:c.1342G>C, XM_047422554.1:c.1342G>C, XM_047422564.1:c.1342G>C, XM_047422552.1:c.1342G>C, XM_047422562.1:c.1342G>C, XM_047422553.1:c.1342G>C, XM_047422568.1:c.1255G>C, XM_047422559.1:c.1342G>C, XM_047422573.1:c.1255G>C, XM_047422576.1:c.1342G>C, XM_047422566.1:c.1255G>C, XM_047422570.1:c.1255G>C, XM_047422575.1:c.1342G>C, XM_047422560.1:c.1342G>C, XM_047422571.1:c.1255G>C, XM_047422565.1:c.1342G>C, XM_047422574.1:c.1342G>C, XM_047422578.1:c.1342G>C, XM_047422569.1:c.1255G>C, XM_047422577.1:c.1342G>C, XM_047422580.1:c.1342G>C, XM_047422589.1:c.1342G>C, NP_005017.3:p.Glu448Gln, NP_001337163.1:p.Glu448Gln, NP_001337164.1:p.Glu419Gln, XP_006710750.1:p.Glu448Gln, XP_006710752.1:p.Glu448Gln, XP_024303431.1:p.Glu448Gln, XP_024303432.1:p.Glu419Gln, XP_047278514.1:p.Glu448Gln, XP_047278512.1:p.Glu448Gln, XP_047278523.1:p.Glu419Gln, XP_047278506.1:p.Glu448Gln, XP_047278519.1:p.Glu448Gln, XP_047278513.1:p.Glu448Gln, XP_047278528.1:p.Glu419Gln, XP_047278511.1:p.Glu448Gln, XP_047278507.1:p.Glu448Gln, XP_047278517.1:p.Glu448Gln, XP_047278510.1:p.Glu448Gln, XP_047278520.1:p.Glu448Gln, XP_047278508.1:p.Glu448Gln, XP_047278518.1:p.Glu448Gln, XP_047278509.1:p.Glu448Gln, XP_047278524.1:p.Glu419Gln, XP_047278515.1:p.Glu448Gln, XP_047278529.1:p.Glu419Gln, XP_047278532.1:p.Glu448Gln, XP_047278522.1:p.Glu419Gln, XP_047278526.1:p.Glu419Gln, XP_047278531.1:p.Glu448Gln, XP_047278516.1:p.Glu448Gln, XP_047278527.1:p.Glu419Gln, XP_047278521.1:p.Glu448Gln, XP_047278530.1:p.Glu448Gln, XP_047278534.1:p.Glu448Gln, XP_047278525.1:p.Glu419Gln, XP_047278533.1:p.Glu448Gln, XP_047278536.1:p.Glu448Gln, XP_047278545.1:p.Glu448Gln

                                16.

                                rs1469537812 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  1:9717618 (GRCh38)
                                  1:9777676 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:9717617:C:A,NC_000001.11:9717617:C:G
                                  Gene:
                                  PIK3CD (Varview), LOC124903839 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  A=0.000177/3 (TOMMO)
                                  HGVS:
                                  NC_000001.11:g.9717618C>A, NC_000001.11:g.9717618C>G, NC_000001.10:g.9777676C>A, NC_000001.10:g.9777676C>G, NG_023434.1:g.70887C>A, NG_023434.1:g.70887C>G, NM_005026.5:c.1012C>A, NM_005026.5:c.1012C>G, NM_005026.4:c.1012C>A, NM_005026.4:c.1012C>G, NM_005026.3:c.1012C>A, NM_005026.3:c.1012C>G, NM_001350234.2:c.1012C>A, NM_001350234.2:c.1012C>G, NM_001350234.1:c.1012C>A, NM_001350234.1:c.1012C>G, NM_001350235.1:c.925C>A, NM_001350235.1:c.925C>G, XM_006710687.3:c.1012C>A, XM_006710687.3:c.1012C>G, XM_006710687.2:c.1012C>A, XM_006710687.2:c.1012C>G, XM_006710687.1:c.1012C>A, XM_006710687.1:c.1012C>G, XM_006710689.3:c.1012C>A, XM_006710689.3:c.1012C>G, XM_006710689.2:c.1012C>A, XM_006710689.2:c.1012C>G, XM_006710689.1:c.1012C>A, XM_006710689.1:c.1012C>G, XM_024447663.2:c.1012C>A, XM_024447663.2:c.1012C>G, XM_024447663.1:c.1012C>A, XM_024447663.1:c.1012C>G, XM_024447664.2:c.925C>A, XM_024447664.2:c.925C>G, XM_024447664.1:c.925C>A, XM_024447664.1:c.925C>G, XM_047422558.1:c.1012C>A, XM_047422558.1:c.1012C>G, XM_047422556.1:c.1012C>A, XM_047422556.1:c.1012C>G, XM_047422567.1:c.925C>A, XM_047422567.1:c.925C>G, XM_047422550.1:c.1012C>A, XM_047422550.1:c.1012C>G, XM_047422563.1:c.1012C>A, XM_047422563.1:c.1012C>G, XM_047422557.1:c.1012C>A, XM_047422557.1:c.1012C>G, XM_047422572.1:c.925C>A, XM_047422572.1:c.925C>G, XM_047422555.1:c.1012C>A, XM_047422555.1:c.1012C>G, XM_047422551.1:c.1012C>A, XM_047422551.1:c.1012C>G, XM_047422561.1:c.1012C>A, XM_047422561.1:c.1012C>G, XM_047422554.1:c.1012C>A, XM_047422554.1:c.1012C>G, XM_047422564.1:c.1012C>A, XM_047422564.1:c.1012C>G, XM_047422552.1:c.1012C>A, XM_047422552.1:c.1012C>G, XM_047422562.1:c.1012C>A, XM_047422562.1:c.1012C>G, XM_047422553.1:c.1012C>A, XM_047422553.1:c.1012C>G, XM_047422568.1:c.925C>A, XM_047422568.1:c.925C>G, XM_047422559.1:c.1012C>A, XM_047422559.1:c.1012C>G, XM_047422573.1:c.925C>A, XM_047422573.1:c.925C>G, XM_047422576.1:c.1012C>A, XM_047422576.1:c.1012C>G, XM_047422566.1:c.925C>A, XM_047422566.1:c.925C>G, XM_047422570.1:c.925C>A, XM_047422570.1:c.925C>G, XM_047422575.1:c.1012C>A, XM_047422575.1:c.1012C>G, XM_047422560.1:c.1012C>A, XM_047422560.1:c.1012C>G, XM_047422571.1:c.925C>A, XM_047422571.1:c.925C>G, XM_047422565.1:c.1012C>A, XM_047422565.1:c.1012C>G, XM_047422574.1:c.1012C>A, XM_047422574.1:c.1012C>G, XM_047422578.1:c.1012C>A, XM_047422578.1:c.1012C>G, XM_047422569.1:c.925C>A, XM_047422569.1:c.925C>G, XM_047422577.1:c.1012C>A, XM_047422577.1:c.1012C>G, XM_047422580.1:c.1012C>A, XM_047422580.1:c.1012C>G, XM_047422589.1:c.1012C>A, XM_047422589.1:c.1012C>G, NP_005017.3:p.Arg338Gly, NP_001337163.1:p.Arg338Gly, NP_001337164.1:p.Arg309Gly, XP_006710750.1:p.Arg338Gly, XP_006710752.1:p.Arg338Gly, XP_024303431.1:p.Arg338Gly, XP_024303432.1:p.Arg309Gly, XP_047278514.1:p.Arg338Gly, XP_047278512.1:p.Arg338Gly, XP_047278523.1:p.Arg309Gly, XP_047278506.1:p.Arg338Gly, XP_047278519.1:p.Arg338Gly, XP_047278513.1:p.Arg338Gly, XP_047278528.1:p.Arg309Gly, XP_047278511.1:p.Arg338Gly, XP_047278507.1:p.Arg338Gly, XP_047278517.1:p.Arg338Gly, XP_047278510.1:p.Arg338Gly, XP_047278520.1:p.Arg338Gly, XP_047278508.1:p.Arg338Gly, XP_047278518.1:p.Arg338Gly, XP_047278509.1:p.Arg338Gly, XP_047278524.1:p.Arg309Gly, XP_047278515.1:p.Arg338Gly, XP_047278529.1:p.Arg309Gly, XP_047278532.1:p.Arg338Gly, XP_047278522.1:p.Arg309Gly, XP_047278526.1:p.Arg309Gly, XP_047278531.1:p.Arg338Gly, XP_047278516.1:p.Arg338Gly, XP_047278527.1:p.Arg309Gly, XP_047278521.1:p.Arg338Gly, XP_047278530.1:p.Arg338Gly, XP_047278534.1:p.Arg338Gly, XP_047278525.1:p.Arg309Gly, XP_047278533.1:p.Arg338Gly, XP_047278536.1:p.Arg338Gly, XP_047278545.1:p.Arg338Gly

                                  17.

                                  rs1467968523 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:9721184 (GRCh38)
                                    1:9781242 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:9721183:C:T
                                    Gene:
                                    PIK3CD (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.9721184C>T, NC_000001.10:g.9781242C>T, NG_023434.1:g.74453C>T, NM_005026.5:c.1747C>T, NM_005026.4:c.1747C>T, NM_005026.3:c.1747C>T, NM_001350234.2:c.1744C>T, NM_001350234.1:c.1744C>T, NM_001350235.1:c.1660C>T, XM_006710687.3:c.1747C>T, XM_006710687.2:c.1747C>T, XM_006710687.1:c.1747C>T, XM_006710689.3:c.1747C>T, XM_006710689.2:c.1747C>T, XM_006710689.1:c.1747C>T, XM_024447663.2:c.1744C>T, XM_024447663.1:c.1744C>T, XM_024447664.2:c.1660C>T, XM_024447664.1:c.1660C>T, XM_047422558.1:c.1747C>T, XM_047422556.1:c.1747C>T, XM_047422567.1:c.1660C>T, XM_047422550.1:c.1747C>T, XM_047422563.1:c.1744C>T, XM_047422557.1:c.1747C>T, XM_047422572.1:c.1657C>T, XM_047422555.1:c.1747C>T, XM_047422551.1:c.1747C>T, XM_047422561.1:c.1744C>T, XM_047422554.1:c.1747C>T, XM_047422564.1:c.1744C>T, XM_047422552.1:c.1747C>T, XM_047422562.1:c.1744C>T, XM_047422553.1:c.1747C>T, XM_047422568.1:c.1660C>T, XM_047422559.1:c.1747C>T, XM_047422573.1:c.1657C>T, XM_047422576.1:c.1747C>T, XM_047422566.1:c.1660C>T, XM_047422570.1:c.1657C>T, XM_047422575.1:c.1747C>T, XM_047422560.1:c.1747C>T, XM_047422571.1:c.1657C>T, XM_047422565.1:c.1744C>T, XM_047422574.1:c.1747C>T, XM_047422578.1:c.1744C>T, XM_047422569.1:c.1660C>T, XM_047422577.1:c.1747C>T, XM_047422580.1:c.1747C>T, XM_047422589.1:c.1747C>T

                                    18.

                                    rs1463951620 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:9724936 (GRCh38)
                                      1:9784994 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:9724935:G:A
                                      Gene:
                                      PIK3CD (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Clinical significance:
                                      uncertain-significance
                                      HGVS:
                                      NC_000001.11:g.9724936G>A, NC_000001.10:g.9784994G>A, NG_023434.1:g.78205G>A, NM_005026.5:c.2997G>A, NM_005026.4:c.2997G>A, NM_005026.3:c.2997G>A, NM_001350234.2:c.2994G>A, NM_001350234.1:c.2994G>A, NM_001350235.1:c.2910G>A, XM_006710687.3:c.2997G>A, XM_006710687.2:c.2997G>A, XM_006710687.1:c.2997G>A, XM_006710689.3:c.2997G>A, XM_006710689.2:c.2997G>A, XM_006710689.1:c.2997G>A, XM_024447663.2:c.2994G>A, XM_024447663.1:c.2994G>A, XM_024447664.2:c.2910G>A, XM_024447664.1:c.2910G>A, XM_047422558.1:c.2997G>A, XM_047422556.1:c.2997G>A, XM_047422567.1:c.2910G>A, XM_047422550.1:c.2997G>A, XM_047422563.1:c.2994G>A, XM_047422557.1:c.2997G>A, XM_047422572.1:c.2907G>A, XM_047422555.1:c.2997G>A, XM_047422551.1:c.2997G>A, XM_047422561.1:c.2994G>A, XM_047422554.1:c.2997G>A, XM_047422564.1:c.2994G>A, XM_047422552.1:c.2997G>A, XM_047422562.1:c.2994G>A, XM_047422553.1:c.2997G>A, XM_047422568.1:c.2910G>A, XM_047422559.1:c.2997G>A, XM_047422573.1:c.2907G>A, XM_047422576.1:c.2853G>A, XM_047422566.1:c.2910G>A, XM_047422570.1:c.2907G>A, XM_047422575.1:c.2853G>A, XM_047422560.1:c.2997G>A, XM_047422571.1:c.2907G>A, XM_047422565.1:c.2994G>A, XM_047422574.1:c.2853G>A, XM_047422578.1:c.2850G>A, XM_047422569.1:c.2910G>A, XM_047422577.1:c.2853G>A

                                      19.

                                      rs1463525588 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:9716051 (GRCh38)
                                        1:9776109 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:9716050:G:A
                                        Gene:
                                        PIK3CD (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.9716051G>A, NC_000001.10:g.9776109G>A, NG_023434.1:g.69320G>A, NM_005026.5:c.573G>A, NM_005026.4:c.573G>A, NM_005026.3:c.573G>A, NM_001350234.2:c.573G>A, NM_001350234.1:c.573G>A, NM_001350235.1:c.573G>A, XM_006710687.3:c.573G>A, XM_006710687.2:c.573G>A, XM_006710687.1:c.573G>A, XM_006710689.3:c.573G>A, XM_006710689.2:c.573G>A, XM_006710689.1:c.573G>A, XM_024447663.2:c.573G>A, XM_024447663.1:c.573G>A, XM_024447664.2:c.573G>A, XM_024447664.1:c.573G>A, XM_047422558.1:c.573G>A, XM_047422556.1:c.573G>A, XM_047422567.1:c.573G>A, XM_047422550.1:c.573G>A, XM_047422563.1:c.573G>A, XM_047422557.1:c.573G>A, XM_047422572.1:c.573G>A, XM_047422555.1:c.573G>A, XM_047422551.1:c.573G>A, XM_047422561.1:c.573G>A, XM_047422554.1:c.573G>A, XM_047422564.1:c.573G>A, XM_047422552.1:c.573G>A, XM_047422562.1:c.573G>A, XM_047422553.1:c.573G>A, XM_047422568.1:c.573G>A, XM_047422559.1:c.573G>A, XM_047422573.1:c.573G>A, XM_047422576.1:c.573G>A, XM_047422566.1:c.573G>A, XM_047422570.1:c.573G>A, XM_047422575.1:c.573G>A, XM_047422560.1:c.573G>A, XM_047422571.1:c.573G>A, XM_047422565.1:c.573G>A, XM_047422574.1:c.573G>A, XM_047422578.1:c.573G>A, XM_047422569.1:c.573G>A, XM_047422577.1:c.573G>A, XM_047422580.1:c.573G>A, XM_047422589.1:c.573G>A

                                        20.

                                        rs1463506995 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:9722346 (GRCh38)
                                          1:9782404 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:9722345:G:A
                                          Gene:
                                          PIK3CD (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          HGVS:
                                          NC_000001.11:g.9722346G>A, NC_000001.10:g.9782404G>A, NG_023434.1:g.75615G>A, NM_005026.5:c.2337G>A, NM_005026.4:c.2337G>A, NM_005026.3:c.2337G>A, NM_001350234.2:c.2334G>A, NM_001350234.1:c.2334G>A, NM_001350235.1:c.2250G>A, XM_006710687.3:c.2337G>A, XM_006710687.2:c.2337G>A, XM_006710687.1:c.2337G>A, XM_006710689.3:c.2337G>A, XM_006710689.2:c.2337G>A, XM_006710689.1:c.2337G>A, XM_024447663.2:c.2334G>A, XM_024447663.1:c.2334G>A, XM_024447664.2:c.2250G>A, XM_024447664.1:c.2250G>A, XM_047422558.1:c.2337G>A, XM_047422556.1:c.2337G>A, XM_047422567.1:c.2250G>A, XM_047422550.1:c.2337G>A, XM_047422563.1:c.2334G>A, XM_047422557.1:c.2337G>A, XM_047422572.1:c.2247G>A, XM_047422555.1:c.2337G>A, XM_047422551.1:c.2337G>A, XM_047422561.1:c.2334G>A, XM_047422554.1:c.2337G>A, XM_047422564.1:c.2334G>A, XM_047422552.1:c.2337G>A, XM_047422562.1:c.2334G>A, XM_047422553.1:c.2337G>A, XM_047422568.1:c.2250G>A, XM_047422559.1:c.2337G>A, XM_047422573.1:c.2247G>A, XM_047422576.1:c.2193G>A, XM_047422566.1:c.2250G>A, XM_047422570.1:c.2247G>A, XM_047422575.1:c.2193G>A, XM_047422560.1:c.2337G>A, XM_047422571.1:c.2247G>A, XM_047422565.1:c.2334G>A, XM_047422574.1:c.2193G>A, XM_047422578.1:c.2190G>A, XM_047422569.1:c.2250G>A, XM_047422577.1:c.2193G>A, XM_047422580.1:c.2337G>A

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