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Items: 1 to 20 of 2015

1.

rs1489004720 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    10:94132426 (GRCh38)
    10:95892183 (GRCh37)
    Canonical SPDI:
    NC_000010.11:94132425:T:C
    Gene:
    PLCE1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.94132426T>C, NC_000010.10:g.95892183T>C, NG_015799.1:g.143438T>C, NM_016341.4:c.1459T>C, NM_016341.3:c.1459T>C, NM_001288989.2:c.1459T>C, NM_001288989.1:c.1459T>C, NM_001165979.2:c.535T>C, NM_001165979.1:c.535T>C, XM_006717885.5:c.1459T>C, XM_006717885.4:c.1459T>C, XM_006717885.3:c.1459T>C, XM_006717885.2:c.1459T>C, XM_006717885.1:c.1459T>C, XM_006717888.5:c.1459T>C, XM_006717888.4:c.1459T>C, XM_006717888.3:c.1459T>C, XM_006717888.2:c.1459T>C, XM_006717888.1:c.1459T>C, XM_006717890.4:c.535T>C, XM_006717890.3:c.535T>C, XM_006717890.2:c.535T>C, XM_006717890.1:c.535T>C, XM_011539850.4:c.304T>C, XM_011539850.3:c.304T>C, XM_011539850.2:c.304T>C, XM_011539850.1:c.304T>C, XM_011539851.4:c.1459T>C, XM_011539851.3:c.1459T>C, XM_011539851.2:c.1459T>C, XM_011539851.1:c.1459T>C, XM_011539852.4:c.1459T>C, XM_011539852.3:c.1459T>C, XM_011539852.2:c.1459T>C, XM_011539852.1:c.1459T>C, XM_017016310.3:c.1459T>C, XM_017016310.2:c.1459T>C, XM_017016310.1:c.1459T>C, XM_017016312.3:c.535T>C, XM_017016312.2:c.535T>C, XM_017016312.1:c.535T>C, XM_017016311.3:c.1459T>C, XM_017016311.2:c.1459T>C, XM_017016311.1:c.1459T>C, XM_047425285.1:c.1459T>C, XM_047425289.1:c.1459T>C, XM_047425297.1:c.1459T>C, XM_047425287.1:c.1459T>C, XM_047425286.1:c.1459T>C, XM_047425290.1:c.1459T>C, XM_047425299.1:c.1459T>C, XM_047425284.1:c.1459T>C, XM_047425295.1:c.1459T>C, XM_047425291.1:c.1459T>C, XM_047425296.1:c.1459T>C, XM_047425298.1:c.1459T>C, XM_047425302.1:c.535T>C, XM_047425294.1:c.1459T>C, XM_047425288.1:c.1459T>C, XM_047425292.1:c.1459T>C, XM_047425303.1:c.304T>C, XM_047425293.1:c.1459T>C, XM_047425300.1:c.1459T>C, XM_047425301.1:c.535T>C, NP_057425.3:p.Phe487Leu, NP_001275918.1:p.Phe487Leu, NP_001159451.1:p.Phe179Leu, XP_006717948.1:p.Phe487Leu, XP_006717951.1:p.Phe487Leu, XP_006717953.1:p.Phe179Leu, XP_011538152.1:p.Phe102Leu, XP_011538153.1:p.Phe487Leu, XP_011538154.1:p.Phe487Leu, XP_016871799.1:p.Phe487Leu, XP_016871801.1:p.Phe179Leu, XP_016871800.1:p.Phe487Leu, XP_047281241.1:p.Phe487Leu, XP_047281245.1:p.Phe487Leu, XP_047281253.1:p.Phe487Leu, XP_047281243.1:p.Phe487Leu, XP_047281242.1:p.Phe487Leu, XP_047281246.1:p.Phe487Leu, XP_047281255.1:p.Phe487Leu, XP_047281240.1:p.Phe487Leu, XP_047281251.1:p.Phe487Leu, XP_047281247.1:p.Phe487Leu, XP_047281252.1:p.Phe487Leu, XP_047281254.1:p.Phe487Leu, XP_047281258.1:p.Phe179Leu, XP_047281250.1:p.Phe487Leu, XP_047281244.1:p.Phe487Leu, XP_047281248.1:p.Phe487Leu, XP_047281259.1:p.Phe102Leu, XP_047281249.1:p.Phe487Leu, XP_047281256.1:p.Phe487Leu, XP_047281257.1:p.Phe179Leu

    2.

    rs1488040207 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      10:94031591 (GRCh38)
      10:95791348 (GRCh37)
      Canonical SPDI:
      NC_000010.11:94031590:G:A
      Gene:
      PLCE1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.00006/1 (TOMMO)
      HGVS:
      NC_000010.11:g.94031591G>A, NC_000010.10:g.95791348G>A, NG_015799.1:g.42603G>A, NM_016341.4:c.545G>A, NM_016341.3:c.545G>A, NM_001288989.2:c.545G>A, NM_001288989.1:c.545G>A, XM_006717885.5:c.545G>A, XM_006717885.4:c.545G>A, XM_006717885.3:c.545G>A, XM_006717885.2:c.545G>A, XM_006717885.1:c.545G>A, XM_006717888.5:c.545G>A, XM_006717888.4:c.545G>A, XM_006717888.3:c.545G>A, XM_006717888.2:c.545G>A, XM_006717888.1:c.545G>A, XM_011539851.4:c.545G>A, XM_011539851.3:c.545G>A, XM_011539851.2:c.545G>A, XM_011539851.1:c.545G>A, XM_011539852.4:c.545G>A, XM_011539852.3:c.545G>A, XM_011539852.2:c.545G>A, XM_011539852.1:c.545G>A, XM_017016310.3:c.545G>A, XM_017016310.2:c.545G>A, XM_017016310.1:c.545G>A, XM_017016311.3:c.545G>A, XM_017016311.2:c.545G>A, XM_017016311.1:c.545G>A, XM_047425285.1:c.545G>A, XM_047425289.1:c.545G>A, XM_047425297.1:c.545G>A, XM_047425287.1:c.545G>A, XM_047425286.1:c.545G>A, XM_047425290.1:c.545G>A, XM_047425299.1:c.545G>A, XM_047425284.1:c.545G>A, XM_047425295.1:c.545G>A, XM_047425291.1:c.545G>A, XM_047425296.1:c.545G>A, XM_047425298.1:c.545G>A, XM_047425294.1:c.545G>A, XM_047425288.1:c.545G>A, XM_047425292.1:c.545G>A, XM_047425293.1:c.545G>A, XM_047425300.1:c.545G>A, NP_057425.3:p.Ser182Asn, NP_001275918.1:p.Ser182Asn, XP_006717948.1:p.Ser182Asn, XP_006717951.1:p.Ser182Asn, XP_011538153.1:p.Ser182Asn, XP_011538154.1:p.Ser182Asn, XP_016871799.1:p.Ser182Asn, XP_016871800.1:p.Ser182Asn, XP_047281241.1:p.Ser182Asn, XP_047281245.1:p.Ser182Asn, XP_047281253.1:p.Ser182Asn, XP_047281243.1:p.Ser182Asn, XP_047281242.1:p.Ser182Asn, XP_047281246.1:p.Ser182Asn, XP_047281255.1:p.Ser182Asn, XP_047281240.1:p.Ser182Asn, XP_047281251.1:p.Ser182Asn, XP_047281247.1:p.Ser182Asn, XP_047281252.1:p.Ser182Asn, XP_047281254.1:p.Ser182Asn, XP_047281250.1:p.Ser182Asn, XP_047281244.1:p.Ser182Asn, XP_047281248.1:p.Ser182Asn, XP_047281249.1:p.Ser182Asn, XP_047281256.1:p.Ser182Asn

      3.

      rs1487763804 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:94227308 (GRCh38)
        10:95987065 (GRCh37)
        Canonical SPDI:
        NC_000010.11:94227307:G:A
        Gene:
        PLCE1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000014/2 (GnomAD)
        HGVS:
        NC_000010.11:g.94227308G>A, NC_000010.10:g.95987065G>A, NG_015799.1:g.238320G>A, NM_016341.4:c.1812G>A, NM_016341.3:c.1812G>A, NM_001288989.2:c.1812G>A, NM_001288989.1:c.1812G>A, NM_001165979.2:c.888G>A, NM_001165979.1:c.888G>A, XM_006717885.5:c.1812G>A, XM_006717885.4:c.1812G>A, XM_006717885.3:c.1812G>A, XM_006717885.2:c.1812G>A, XM_006717885.1:c.1812G>A, XM_006717888.5:c.1812G>A, XM_006717888.4:c.1812G>A, XM_006717888.3:c.1812G>A, XM_006717888.2:c.1812G>A, XM_006717888.1:c.1812G>A, XM_006717890.4:c.888G>A, XM_006717890.3:c.888G>A, XM_006717890.2:c.888G>A, XM_006717890.1:c.888G>A, XM_011539850.4:c.657G>A, XM_011539850.3:c.657G>A, XM_011539850.2:c.657G>A, XM_011539850.1:c.657G>A, XM_011539851.4:c.1812G>A, XM_011539851.3:c.1812G>A, XM_011539851.2:c.1812G>A, XM_011539851.1:c.1812G>A, XM_011539852.4:c.1812G>A, XM_011539852.3:c.1812G>A, XM_011539852.2:c.1812G>A, XM_011539852.1:c.1812G>A, XM_017016310.3:c.1812G>A, XM_017016310.2:c.1812G>A, XM_017016310.1:c.1812G>A, XM_017016312.3:c.888G>A, XM_017016312.2:c.888G>A, XM_017016312.1:c.888G>A, XM_017016311.3:c.1812G>A, XM_017016311.2:c.1812G>A, XM_017016311.1:c.1812G>A, XM_047425285.1:c.1812G>A, XM_047425289.1:c.1812G>A, XM_047425297.1:c.1812G>A, XM_047425287.1:c.1812G>A, XM_047425286.1:c.1812G>A, XM_047425290.1:c.1812G>A, XM_047425299.1:c.1812G>A, XM_047425284.1:c.1812G>A, XM_047425295.1:c.1812G>A, XM_047425291.1:c.1812G>A, XM_047425296.1:c.1812G>A, XM_047425298.1:c.1812G>A, XM_047425302.1:c.888G>A, XM_047425294.1:c.1812G>A, XM_047425288.1:c.1812G>A, XM_047425292.1:c.1812G>A, XM_047425303.1:c.657G>A, XM_047425293.1:c.1812G>A, XM_047425300.1:c.1812G>A, XM_047425301.1:c.888G>A

        4.

        rs1487629775 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          10:94031728 (GRCh38)
          10:95791485 (GRCh37)
          Canonical SPDI:
          NC_000010.11:94031727:A:T
          Gene:
          PLCE1 (Varview)
          Functional Consequence:
          coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.94031728A>T, NC_000010.10:g.95791485A>T, NG_015799.1:g.42740A>T, NM_016341.4:c.682A>T, NM_016341.3:c.682A>T, NM_001288989.2:c.682A>T, NM_001288989.1:c.682A>T, XM_006717885.5:c.682A>T, XM_006717885.4:c.682A>T, XM_006717885.3:c.682A>T, XM_006717885.2:c.682A>T, XM_006717885.1:c.682A>T, XM_006717888.5:c.682A>T, XM_006717888.4:c.682A>T, XM_006717888.3:c.682A>T, XM_006717888.2:c.682A>T, XM_006717888.1:c.682A>T, XM_011539851.4:c.682A>T, XM_011539851.3:c.682A>T, XM_011539851.2:c.682A>T, XM_011539851.1:c.682A>T, XM_011539852.4:c.682A>T, XM_011539852.3:c.682A>T, XM_011539852.2:c.682A>T, XM_011539852.1:c.682A>T, XM_017016310.3:c.682A>T, XM_017016310.2:c.682A>T, XM_017016310.1:c.682A>T, XM_017016311.3:c.682A>T, XM_017016311.2:c.682A>T, XM_017016311.1:c.682A>T, XM_047425285.1:c.682A>T, XM_047425289.1:c.682A>T, XM_047425297.1:c.682A>T, XM_047425287.1:c.682A>T, XM_047425286.1:c.682A>T, XM_047425290.1:c.682A>T, XM_047425299.1:c.682A>T, XM_047425284.1:c.682A>T, XM_047425295.1:c.682A>T, XM_047425291.1:c.682A>T, XM_047425296.1:c.682A>T, XM_047425298.1:c.682A>T, XM_047425294.1:c.682A>T, XM_047425288.1:c.682A>T, XM_047425292.1:c.682A>T, XM_047425293.1:c.682A>T, XM_047425300.1:c.682A>T, NP_057425.3:p.Lys228Ter, NP_001275918.1:p.Lys228Ter, XP_006717948.1:p.Lys228Ter, XP_006717951.1:p.Lys228Ter, XP_011538153.1:p.Lys228Ter, XP_011538154.1:p.Lys228Ter, XP_016871799.1:p.Lys228Ter, XP_016871800.1:p.Lys228Ter, XP_047281241.1:p.Lys228Ter, XP_047281245.1:p.Lys228Ter, XP_047281253.1:p.Lys228Ter, XP_047281243.1:p.Lys228Ter, XP_047281242.1:p.Lys228Ter, XP_047281246.1:p.Lys228Ter, XP_047281255.1:p.Lys228Ter, XP_047281240.1:p.Lys228Ter, XP_047281251.1:p.Lys228Ter, XP_047281247.1:p.Lys228Ter, XP_047281252.1:p.Lys228Ter, XP_047281254.1:p.Lys228Ter, XP_047281250.1:p.Lys228Ter, XP_047281244.1:p.Lys228Ter, XP_047281248.1:p.Lys228Ter, XP_047281249.1:p.Lys228Ter, XP_047281256.1:p.Lys228Ter

          5.

          rs1487360805 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            10:94246326 (GRCh38)
            10:96006083 (GRCh37)
            Canonical SPDI:
            NC_000010.11:94246325:G:T
            Gene:
            PLCE1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.94246326G>T, NC_000010.10:g.96006083G>T, NG_015799.1:g.257338G>T, NM_016341.4:c.2801G>T, NM_016341.3:c.2801G>T, NM_001288989.2:c.2801G>T, NM_001288989.1:c.2801G>T, NM_001165979.2:c.1877G>T, NM_001165979.1:c.1877G>T, XM_006717885.5:c.2801G>T, XM_006717885.4:c.2801G>T, XM_006717885.3:c.2801G>T, XM_006717885.2:c.2801G>T, XM_006717885.1:c.2801G>T, XM_006717888.5:c.2801G>T, XM_006717888.4:c.2801G>T, XM_006717888.3:c.2801G>T, XM_006717888.2:c.2801G>T, XM_006717888.1:c.2801G>T, XM_006717890.4:c.1877G>T, XM_006717890.3:c.1877G>T, XM_006717890.2:c.1877G>T, XM_006717890.1:c.1877G>T, XM_011539850.4:c.1646G>T, XM_011539850.3:c.1646G>T, XM_011539850.2:c.1646G>T, XM_011539850.1:c.1646G>T, XM_011539851.4:c.2801G>T, XM_011539851.3:c.2801G>T, XM_011539851.2:c.2801G>T, XM_011539851.1:c.2801G>T, XM_011539852.4:c.2801G>T, XM_011539852.3:c.2801G>T, XM_011539852.2:c.2801G>T, XM_011539852.1:c.2801G>T, XM_017016310.3:c.2801G>T, XM_017016310.2:c.2801G>T, XM_017016310.1:c.2801G>T, XM_017016312.3:c.1877G>T, XM_017016312.2:c.1877G>T, XM_017016312.1:c.1877G>T, XM_017016311.3:c.2801G>T, XM_017016311.2:c.2801G>T, XM_017016311.1:c.2801G>T, XM_047425285.1:c.2801G>T, XM_047425289.1:c.2801G>T, XM_047425297.1:c.2801G>T, XM_047425287.1:c.2801G>T, XM_047425286.1:c.2801G>T, XM_047425290.1:c.2801G>T, XM_047425299.1:c.2801G>T, XM_047425284.1:c.2801G>T, XM_047425295.1:c.2801G>T, XM_047425291.1:c.2801G>T, XM_047425296.1:c.2801G>T, XM_047425298.1:c.2801G>T, XM_047425302.1:c.1877G>T, XM_047425294.1:c.2801G>T, XM_047425288.1:c.2801G>T, XM_047425292.1:c.2801G>T, XM_047425303.1:c.1646G>T, XM_047425293.1:c.2801G>T, XM_047425300.1:c.2801G>T, XM_047425301.1:c.1877G>T, NP_057425.3:p.Gly934Val, NP_001275918.1:p.Gly934Val, NP_001159451.1:p.Gly626Val, XP_006717948.1:p.Gly934Val, XP_006717951.1:p.Gly934Val, XP_006717953.1:p.Gly626Val, XP_011538152.1:p.Gly549Val, XP_011538153.1:p.Gly934Val, XP_011538154.1:p.Gly934Val, XP_016871799.1:p.Gly934Val, XP_016871801.1:p.Gly626Val, XP_016871800.1:p.Gly934Val, XP_047281241.1:p.Gly934Val, XP_047281245.1:p.Gly934Val, XP_047281253.1:p.Gly934Val, XP_047281243.1:p.Gly934Val, XP_047281242.1:p.Gly934Val, XP_047281246.1:p.Gly934Val, XP_047281255.1:p.Gly934Val, XP_047281240.1:p.Gly934Val, XP_047281251.1:p.Gly934Val, XP_047281247.1:p.Gly934Val, XP_047281252.1:p.Gly934Val, XP_047281254.1:p.Gly934Val, XP_047281258.1:p.Gly626Val, XP_047281250.1:p.Gly934Val, XP_047281244.1:p.Gly934Val, XP_047281248.1:p.Gly934Val, XP_047281259.1:p.Gly549Val, XP_047281249.1:p.Gly934Val, XP_047281256.1:p.Gly934Val, XP_047281257.1:p.Gly626Val

            6.

            rs1487080758 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:94284915 (GRCh38)
              10:96044672 (GRCh37)
              Canonical SPDI:
              NC_000010.11:94284914:C:T
              Gene:
              PLCE1 (Varview), PLCE1-AS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.0002/1 (ALFA)
              T=0.0002/1 (Estonian)
              HGVS:
              NC_000010.11:g.94284915C>T, NC_000010.10:g.96044672C>T, NG_015799.1:g.295927C>T, NM_016341.4:c.4985C>T, NM_016341.3:c.4985C>T, NM_001288989.2:c.4937C>T, NM_001288989.1:c.4937C>T, NM_001165979.2:c.4061C>T, NM_001165979.1:c.4061C>T, XM_006717885.5:c.5027C>T, XM_006717885.4:c.5027C>T, XM_006717885.3:c.5027C>T, XM_006717885.2:c.5027C>T, XM_006717885.1:c.5027C>T, XM_006717888.5:c.5024C>T, XM_006717888.4:c.5024C>T, XM_006717888.3:c.5024C>T, XM_006717888.2:c.5024C>T, XM_006717888.1:c.5024C>T, XM_006717890.4:c.4103C>T, XM_006717890.3:c.4103C>T, XM_006717890.2:c.4103C>T, XM_006717890.1:c.4103C>T, XM_011539850.4:c.3872C>T, XM_011539850.3:c.3872C>T, XM_011539850.2:c.3872C>T, XM_011539850.1:c.3872C>T, XM_017016310.3:c.5027C>T, XM_017016310.2:c.5027C>T, XM_017016310.1:c.5027C>T, XM_017016312.3:c.4013C>T, XM_017016312.2:c.4013C>T, XM_017016312.1:c.4013C>T, XM_017016311.3:c.5027C>T, XM_017016311.2:c.5027C>T, XM_017016311.1:c.5027C>T, XM_047425285.1:c.5027C>T, XM_047425289.1:c.4985C>T, XM_047425297.1:c.4937C>T, XM_047425287.1:c.5027C>T, XM_047425286.1:c.5027C>T, XM_047425290.1:c.4985C>T, XM_047425299.1:c.4937C>T, XM_047425284.1:c.5027C>T, XM_047425295.1:c.4979C>T, XM_047425291.1:c.4985C>T, XM_047425296.1:c.4979C>T, XM_047425298.1:c.4937C>T, XM_047425302.1:c.4055C>T, XM_047425294.1:c.4985C>T, XM_047425288.1:c.5024C>T, XM_047425292.1:c.4985C>T, XM_047425303.1:c.3830C>T, XM_047425293.1:c.4985C>T, XM_047425300.1:c.4937C>T, XM_047425301.1:c.4061C>T, NP_057425.3:p.Ala1662Val, NP_001275918.1:p.Ala1646Val, NP_001159451.1:p.Ala1354Val, XP_006717948.1:p.Ala1676Val, XP_006717951.1:p.Ala1675Val, XP_006717953.1:p.Ala1368Val, XP_011538152.1:p.Ala1291Val, XP_016871799.1:p.Ala1676Val, XP_016871801.1:p.Ala1338Val, XP_016871800.1:p.Ala1676Val, XP_047281241.1:p.Ala1676Val, XP_047281245.1:p.Ala1662Val, XP_047281253.1:p.Ala1646Val, XP_047281243.1:p.Ala1676Val, XP_047281242.1:p.Ala1676Val, XP_047281246.1:p.Ala1662Val, XP_047281255.1:p.Ala1646Val, XP_047281240.1:p.Ala1676Val, XP_047281251.1:p.Ala1660Val, XP_047281247.1:p.Ala1662Val, XP_047281252.1:p.Ala1660Val, XP_047281254.1:p.Ala1646Val, XP_047281258.1:p.Ala1352Val, XP_047281250.1:p.Ala1662Val, XP_047281244.1:p.Ala1675Val, XP_047281248.1:p.Ala1662Val, XP_047281259.1:p.Ala1277Val, XP_047281249.1:p.Ala1662Val, XP_047281256.1:p.Ala1646Val, XP_047281257.1:p.Ala1354Val

              7.

              rs1486921056 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:94031320 (GRCh38)
                10:95791077 (GRCh37)
                Canonical SPDI:
                NC_000010.11:94031319:G:A
                Gene:
                PLCE1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.94031320G>A, NC_000010.10:g.95791077G>A, NG_015799.1:g.42332G>A, NM_016341.4:c.274G>A, NM_016341.3:c.274G>A, NM_001288989.2:c.274G>A, NM_001288989.1:c.274G>A, XM_006717885.5:c.274G>A, XM_006717885.4:c.274G>A, XM_006717885.3:c.274G>A, XM_006717885.2:c.274G>A, XM_006717885.1:c.274G>A, XM_006717888.5:c.274G>A, XM_006717888.4:c.274G>A, XM_006717888.3:c.274G>A, XM_006717888.2:c.274G>A, XM_006717888.1:c.274G>A, XM_011539851.4:c.274G>A, XM_011539851.3:c.274G>A, XM_011539851.2:c.274G>A, XM_011539851.1:c.274G>A, XM_011539852.4:c.274G>A, XM_011539852.3:c.274G>A, XM_011539852.2:c.274G>A, XM_011539852.1:c.274G>A, XM_017016310.3:c.274G>A, XM_017016310.2:c.274G>A, XM_017016310.1:c.274G>A, XM_017016311.3:c.274G>A, XM_017016311.2:c.274G>A, XM_017016311.1:c.274G>A, XM_047425285.1:c.274G>A, XM_047425289.1:c.274G>A, XM_047425297.1:c.274G>A, XM_047425287.1:c.274G>A, XM_047425286.1:c.274G>A, XM_047425290.1:c.274G>A, XM_047425299.1:c.274G>A, XM_047425284.1:c.274G>A, XM_047425295.1:c.274G>A, XM_047425291.1:c.274G>A, XM_047425296.1:c.274G>A, XM_047425298.1:c.274G>A, XM_047425294.1:c.274G>A, XM_047425288.1:c.274G>A, XM_047425292.1:c.274G>A, XM_047425293.1:c.274G>A, XM_047425300.1:c.274G>A, NP_057425.3:p.Glu92Lys, NP_001275918.1:p.Glu92Lys, XP_006717948.1:p.Glu92Lys, XP_006717951.1:p.Glu92Lys, XP_011538153.1:p.Glu92Lys, XP_011538154.1:p.Glu92Lys, XP_016871799.1:p.Glu92Lys, XP_016871800.1:p.Glu92Lys, XP_047281241.1:p.Glu92Lys, XP_047281245.1:p.Glu92Lys, XP_047281253.1:p.Glu92Lys, XP_047281243.1:p.Glu92Lys, XP_047281242.1:p.Glu92Lys, XP_047281246.1:p.Glu92Lys, XP_047281255.1:p.Glu92Lys, XP_047281240.1:p.Glu92Lys, XP_047281251.1:p.Glu92Lys, XP_047281247.1:p.Glu92Lys, XP_047281252.1:p.Glu92Lys, XP_047281254.1:p.Glu92Lys, XP_047281250.1:p.Glu92Lys, XP_047281244.1:p.Glu92Lys, XP_047281248.1:p.Glu92Lys, XP_047281249.1:p.Glu92Lys, XP_047281256.1:p.Glu92Lys

                8.

                rs1485935185 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:94031984 (GRCh38)
                  10:95791741 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:94031983:A:G
                  Gene:
                  PLCE1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000010.11:g.94031984A>G, NC_000010.10:g.95791741A>G, NG_015799.1:g.42996A>G, NM_016341.4:c.938A>G, NM_016341.3:c.938A>G, NM_001288989.2:c.938A>G, NM_001288989.1:c.938A>G, XM_006717885.5:c.938A>G, XM_006717885.4:c.938A>G, XM_006717885.3:c.938A>G, XM_006717885.2:c.938A>G, XM_006717885.1:c.938A>G, XM_006717888.5:c.938A>G, XM_006717888.4:c.938A>G, XM_006717888.3:c.938A>G, XM_006717888.2:c.938A>G, XM_006717888.1:c.938A>G, XM_011539851.4:c.938A>G, XM_011539851.3:c.938A>G, XM_011539851.2:c.938A>G, XM_011539851.1:c.938A>G, XM_011539852.4:c.938A>G, XM_011539852.3:c.938A>G, XM_011539852.2:c.938A>G, XM_011539852.1:c.938A>G, XM_017016310.3:c.938A>G, XM_017016310.2:c.938A>G, XM_017016310.1:c.938A>G, XM_017016311.3:c.938A>G, XM_017016311.2:c.938A>G, XM_017016311.1:c.938A>G, XM_047425285.1:c.938A>G, XM_047425289.1:c.938A>G, XM_047425297.1:c.938A>G, XM_047425287.1:c.938A>G, XM_047425286.1:c.938A>G, XM_047425290.1:c.938A>G, XM_047425299.1:c.938A>G, XM_047425284.1:c.938A>G, XM_047425295.1:c.938A>G, XM_047425291.1:c.938A>G, XM_047425296.1:c.938A>G, XM_047425298.1:c.938A>G, XM_047425294.1:c.938A>G, XM_047425288.1:c.938A>G, XM_047425292.1:c.938A>G, XM_047425293.1:c.938A>G, XM_047425300.1:c.938A>G, NP_057425.3:p.Asp313Gly, NP_001275918.1:p.Asp313Gly, XP_006717948.1:p.Asp313Gly, XP_006717951.1:p.Asp313Gly, XP_011538153.1:p.Asp313Gly, XP_011538154.1:p.Asp313Gly, XP_016871799.1:p.Asp313Gly, XP_016871800.1:p.Asp313Gly, XP_047281241.1:p.Asp313Gly, XP_047281245.1:p.Asp313Gly, XP_047281253.1:p.Asp313Gly, XP_047281243.1:p.Asp313Gly, XP_047281242.1:p.Asp313Gly, XP_047281246.1:p.Asp313Gly, XP_047281255.1:p.Asp313Gly, XP_047281240.1:p.Asp313Gly, XP_047281251.1:p.Asp313Gly, XP_047281247.1:p.Asp313Gly, XP_047281252.1:p.Asp313Gly, XP_047281254.1:p.Asp313Gly, XP_047281250.1:p.Asp313Gly, XP_047281244.1:p.Asp313Gly, XP_047281248.1:p.Asp313Gly, XP_047281249.1:p.Asp313Gly, XP_047281256.1:p.Asp313Gly

                  9.

                  rs1485655194 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    10:94227334 (GRCh38)
                    10:95987091 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:94227333:T:C
                    Gene:
                    PLCE1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_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_000010.11:g.94227334T>C, NC_000010.10:g.95987091T>C, NG_015799.1:g.238346T>C, NM_016341.4:c.1838T>C, NM_016341.3:c.1838T>C, NM_001288989.2:c.1838T>C, NM_001288989.1:c.1838T>C, NM_001165979.2:c.914T>C, NM_001165979.1:c.914T>C, XM_006717885.5:c.1838T>C, XM_006717885.4:c.1838T>C, XM_006717885.3:c.1838T>C, XM_006717885.2:c.1838T>C, XM_006717885.1:c.1838T>C, XM_006717888.5:c.1838T>C, XM_006717888.4:c.1838T>C, XM_006717888.3:c.1838T>C, XM_006717888.2:c.1838T>C, XM_006717888.1:c.1838T>C, XM_006717890.4:c.914T>C, XM_006717890.3:c.914T>C, XM_006717890.2:c.914T>C, XM_006717890.1:c.914T>C, XM_011539850.4:c.683T>C, XM_011539850.3:c.683T>C, XM_011539850.2:c.683T>C, XM_011539850.1:c.683T>C, XM_011539851.4:c.1838T>C, XM_011539851.3:c.1838T>C, XM_011539851.2:c.1838T>C, XM_011539851.1:c.1838T>C, XM_011539852.4:c.1838T>C, XM_011539852.3:c.1838T>C, XM_011539852.2:c.1838T>C, XM_011539852.1:c.1838T>C, XM_017016310.3:c.1838T>C, XM_017016310.2:c.1838T>C, XM_017016310.1:c.1838T>C, XM_017016312.3:c.914T>C, XM_017016312.2:c.914T>C, XM_017016312.1:c.914T>C, XM_017016311.3:c.1838T>C, XM_017016311.2:c.1838T>C, XM_017016311.1:c.1838T>C, XM_047425285.1:c.1838T>C, XM_047425289.1:c.1838T>C, XM_047425297.1:c.1838T>C, XM_047425287.1:c.1838T>C, XM_047425286.1:c.1838T>C, XM_047425290.1:c.1838T>C, XM_047425299.1:c.1838T>C, XM_047425284.1:c.1838T>C, XM_047425295.1:c.1838T>C, XM_047425291.1:c.1838T>C, XM_047425296.1:c.1838T>C, XM_047425298.1:c.1838T>C, XM_047425302.1:c.914T>C, XM_047425294.1:c.1838T>C, XM_047425288.1:c.1838T>C, XM_047425292.1:c.1838T>C, XM_047425303.1:c.683T>C, XM_047425293.1:c.1838T>C, XM_047425300.1:c.1838T>C, XM_047425301.1:c.914T>C, NP_057425.3:p.Leu613Pro, NP_001275918.1:p.Leu613Pro, NP_001159451.1:p.Leu305Pro, XP_006717948.1:p.Leu613Pro, XP_006717951.1:p.Leu613Pro, XP_006717953.1:p.Leu305Pro, XP_011538152.1:p.Leu228Pro, XP_011538153.1:p.Leu613Pro, XP_011538154.1:p.Leu613Pro, XP_016871799.1:p.Leu613Pro, XP_016871801.1:p.Leu305Pro, XP_016871800.1:p.Leu613Pro, XP_047281241.1:p.Leu613Pro, XP_047281245.1:p.Leu613Pro, XP_047281253.1:p.Leu613Pro, XP_047281243.1:p.Leu613Pro, XP_047281242.1:p.Leu613Pro, XP_047281246.1:p.Leu613Pro, XP_047281255.1:p.Leu613Pro, XP_047281240.1:p.Leu613Pro, XP_047281251.1:p.Leu613Pro, XP_047281247.1:p.Leu613Pro, XP_047281252.1:p.Leu613Pro, XP_047281254.1:p.Leu613Pro, XP_047281258.1:p.Leu305Pro, XP_047281250.1:p.Leu613Pro, XP_047281244.1:p.Leu613Pro, XP_047281248.1:p.Leu613Pro, XP_047281259.1:p.Leu228Pro, XP_047281249.1:p.Leu613Pro, XP_047281256.1:p.Leu613Pro, XP_047281257.1:p.Leu305Pro

                    10.

                    rs1485358230 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      10:94273661 (GRCh38)
                      10:96033418 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:94273660:C:A
                      Gene:
                      PLCE1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000010.11:g.94273661C>A, NC_000010.10:g.96033418C>A, NG_015799.1:g.284673C>A, NM_016341.4:c.4606C>A, NM_016341.3:c.4606C>A, NM_001288989.2:c.4558C>A, NM_001288989.1:c.4558C>A, NM_001165979.2:c.3682C>A, NM_001165979.1:c.3682C>A, XM_006717885.5:c.4606C>A, XM_006717885.4:c.4606C>A, XM_006717885.3:c.4606C>A, XM_006717885.2:c.4606C>A, XM_006717885.1:c.4606C>A, XM_006717888.5:c.4606C>A, XM_006717888.4:c.4606C>A, XM_006717888.3:c.4606C>A, XM_006717888.2:c.4606C>A, XM_006717888.1:c.4606C>A, XM_006717890.4:c.3682C>A, XM_006717890.3:c.3682C>A, XM_006717890.2:c.3682C>A, XM_006717890.1:c.3682C>A, XM_011539850.4:c.3451C>A, XM_011539850.3:c.3451C>A, XM_011539850.2:c.3451C>A, XM_011539850.1:c.3451C>A, XM_011539851.4:c.4606C>A, XM_011539851.3:c.4606C>A, XM_011539851.2:c.4606C>A, XM_011539851.1:c.4606C>A, XM_011539852.4:c.4606C>A, XM_011539852.3:c.4606C>A, XM_011539852.2:c.4606C>A, XM_011539852.1:c.4606C>A, XM_017016310.3:c.4606C>A, XM_017016310.2:c.4606C>A, XM_017016310.1:c.4606C>A, XM_017016312.3:c.3634C>A, XM_017016312.2:c.3634C>A, XM_017016312.1:c.3634C>A, XM_017016311.3:c.4606C>A, XM_017016311.2:c.4606C>A, XM_017016311.1:c.4606C>A, XM_047425285.1:c.4606C>A, XM_047425289.1:c.4606C>A, XM_047425297.1:c.4558C>A, XM_047425287.1:c.4606C>A, XM_047425286.1:c.4606C>A, XM_047425290.1:c.4606C>A, XM_047425299.1:c.4558C>A, XM_047425284.1:c.4606C>A, XM_047425295.1:c.4558C>A, XM_047425291.1:c.4606C>A, XM_047425296.1:c.4558C>A, XM_047425298.1:c.4558C>A, XM_047425302.1:c.3634C>A, XM_047425294.1:c.4606C>A, XM_047425288.1:c.4606C>A, XM_047425292.1:c.4606C>A, XM_047425303.1:c.3451C>A, XM_047425293.1:c.4606C>A, XM_047425300.1:c.4558C>A, XM_047425301.1:c.3682C>A, NP_057425.3:p.Leu1536Ile, NP_001275918.1:p.Leu1520Ile, NP_001159451.1:p.Leu1228Ile, XP_006717948.1:p.Leu1536Ile, XP_006717951.1:p.Leu1536Ile, XP_006717953.1:p.Leu1228Ile, XP_011538152.1:p.Leu1151Ile, XP_011538153.1:p.Leu1536Ile, XP_011538154.1:p.Leu1536Ile, XP_016871799.1:p.Leu1536Ile, XP_016871801.1:p.Leu1212Ile, XP_016871800.1:p.Leu1536Ile, XP_047281241.1:p.Leu1536Ile, XP_047281245.1:p.Leu1536Ile, XP_047281253.1:p.Leu1520Ile, XP_047281243.1:p.Leu1536Ile, XP_047281242.1:p.Leu1536Ile, XP_047281246.1:p.Leu1536Ile, XP_047281255.1:p.Leu1520Ile, XP_047281240.1:p.Leu1536Ile, XP_047281251.1:p.Leu1520Ile, XP_047281247.1:p.Leu1536Ile, XP_047281252.1:p.Leu1520Ile, XP_047281254.1:p.Leu1520Ile, XP_047281258.1:p.Leu1212Ile, XP_047281250.1:p.Leu1536Ile, XP_047281244.1:p.Leu1536Ile, XP_047281248.1:p.Leu1536Ile, XP_047281259.1:p.Leu1151Ile, XP_047281249.1:p.Leu1536Ile, XP_047281256.1:p.Leu1520Ile, XP_047281257.1:p.Leu1228Ile

                      11.

                      rs1485318519 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:94031303 (GRCh38)
                        10:95791060 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:94031302:G:A
                        Gene:
                        PLCE1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.94031303G>A, NC_000010.10:g.95791060G>A, NG_015799.1:g.42315G>A, NM_016341.4:c.257G>A, NM_016341.3:c.257G>A, NM_001288989.2:c.257G>A, NM_001288989.1:c.257G>A, XM_006717885.5:c.257G>A, XM_006717885.4:c.257G>A, XM_006717885.3:c.257G>A, XM_006717885.2:c.257G>A, XM_006717885.1:c.257G>A, XM_006717888.5:c.257G>A, XM_006717888.4:c.257G>A, XM_006717888.3:c.257G>A, XM_006717888.2:c.257G>A, XM_006717888.1:c.257G>A, XM_011539851.4:c.257G>A, XM_011539851.3:c.257G>A, XM_011539851.2:c.257G>A, XM_011539851.1:c.257G>A, XM_011539852.4:c.257G>A, XM_011539852.3:c.257G>A, XM_011539852.2:c.257G>A, XM_011539852.1:c.257G>A, XM_017016310.3:c.257G>A, XM_017016310.2:c.257G>A, XM_017016310.1:c.257G>A, XM_017016311.3:c.257G>A, XM_017016311.2:c.257G>A, XM_017016311.1:c.257G>A, XM_047425285.1:c.257G>A, XM_047425289.1:c.257G>A, XM_047425297.1:c.257G>A, XM_047425287.1:c.257G>A, XM_047425286.1:c.257G>A, XM_047425290.1:c.257G>A, XM_047425299.1:c.257G>A, XM_047425284.1:c.257G>A, XM_047425295.1:c.257G>A, XM_047425291.1:c.257G>A, XM_047425296.1:c.257G>A, XM_047425298.1:c.257G>A, XM_047425294.1:c.257G>A, XM_047425288.1:c.257G>A, XM_047425292.1:c.257G>A, XM_047425293.1:c.257G>A, XM_047425300.1:c.257G>A, NP_057425.3:p.Ser86Asn, NP_001275918.1:p.Ser86Asn, XP_006717948.1:p.Ser86Asn, XP_006717951.1:p.Ser86Asn, XP_011538153.1:p.Ser86Asn, XP_011538154.1:p.Ser86Asn, XP_016871799.1:p.Ser86Asn, XP_016871800.1:p.Ser86Asn, XP_047281241.1:p.Ser86Asn, XP_047281245.1:p.Ser86Asn, XP_047281253.1:p.Ser86Asn, XP_047281243.1:p.Ser86Asn, XP_047281242.1:p.Ser86Asn, XP_047281246.1:p.Ser86Asn, XP_047281255.1:p.Ser86Asn, XP_047281240.1:p.Ser86Asn, XP_047281251.1:p.Ser86Asn, XP_047281247.1:p.Ser86Asn, XP_047281252.1:p.Ser86Asn, XP_047281254.1:p.Ser86Asn, XP_047281250.1:p.Ser86Asn, XP_047281244.1:p.Ser86Asn, XP_047281248.1:p.Ser86Asn, XP_047281249.1:p.Ser86Asn, XP_047281256.1:p.Ser86Asn

                        12.

                        rs1484525881 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:94262558 (GRCh38)
                          10:96022315 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:94262557:C:T
                          Gene:
                          PLCE1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000028/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000010.11:g.94262558C>T, NC_000010.10:g.96022315C>T, NG_015799.1:g.273570C>T, NM_016341.4:c.3879C>T, NM_016341.3:c.3879C>T, NM_001288989.2:c.3831C>T, NM_001288989.1:c.3831C>T, NM_001165979.2:c.2955C>T, NM_001165979.1:c.2955C>T, XM_006717885.5:c.3879C>T, XM_006717885.4:c.3879C>T, XM_006717885.3:c.3879C>T, XM_006717885.2:c.3879C>T, XM_006717885.1:c.3879C>T, XM_006717888.5:c.3879C>T, XM_006717888.4:c.3879C>T, XM_006717888.3:c.3879C>T, XM_006717888.2:c.3879C>T, XM_006717888.1:c.3879C>T, XM_006717890.4:c.2955C>T, XM_006717890.3:c.2955C>T, XM_006717890.2:c.2955C>T, XM_006717890.1:c.2955C>T, XM_011539850.4:c.2724C>T, XM_011539850.3:c.2724C>T, XM_011539850.2:c.2724C>T, XM_011539850.1:c.2724C>T, XM_011539851.4:c.3879C>T, XM_011539851.3:c.3879C>T, XM_011539851.2:c.3879C>T, XM_011539851.1:c.3879C>T, XM_011539852.4:c.3879C>T, XM_011539852.3:c.3879C>T, XM_011539852.2:c.3879C>T, XM_011539852.1:c.3879C>T, XM_017016310.3:c.3879C>T, XM_017016310.2:c.3879C>T, XM_017016310.1:c.3879C>T, XM_017016312.3:c.2907C>T, XM_017016312.2:c.2907C>T, XM_017016312.1:c.2907C>T, XM_017016311.3:c.3879C>T, XM_017016311.2:c.3879C>T, XM_017016311.1:c.3879C>T, XM_047425285.1:c.3879C>T, XM_047425289.1:c.3879C>T, XM_047425297.1:c.3831C>T, XM_047425287.1:c.3879C>T, XM_047425286.1:c.3879C>T, XM_047425290.1:c.3879C>T, XM_047425299.1:c.3831C>T, XM_047425284.1:c.3879C>T, XM_047425295.1:c.3831C>T, XM_047425291.1:c.3879C>T, XM_047425296.1:c.3831C>T, XM_047425298.1:c.3831C>T, XM_047425302.1:c.2907C>T, XM_047425294.1:c.3879C>T, XM_047425288.1:c.3879C>T, XM_047425292.1:c.3879C>T, XM_047425303.1:c.2724C>T, XM_047425293.1:c.3879C>T, XM_047425300.1:c.3831C>T, XM_047425301.1:c.2955C>T

                          13.

                          rs1484351801 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:94306555 (GRCh38)
                            10:96066312 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:94306554:C:T
                            Gene:
                            PLCE1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.94306555C>T, NC_000010.10:g.96066312C>T, NG_015799.1:g.317567C>T, NM_016341.4:c.5751C>T, NM_016341.3:c.5751C>T, NM_001288989.2:c.5703C>T, NM_001288989.1:c.5703C>T, NM_001165979.2:c.4827C>T, NM_001165979.1:c.4827C>T, XM_006717885.5:c.5793C>T, XM_006717885.4:c.5793C>T, XM_006717885.3:c.5793C>T, XM_006717885.2:c.5793C>T, XM_006717885.1:c.5793C>T, XM_006717888.5:c.5790C>T, XM_006717888.4:c.5790C>T, XM_006717888.3:c.5790C>T, XM_006717888.2:c.5790C>T, XM_006717888.1:c.5790C>T, XM_006717890.4:c.4869C>T, XM_006717890.3:c.4869C>T, XM_006717890.2:c.4869C>T, XM_006717890.1:c.4869C>T, XM_011539850.4:c.4638C>T, XM_011539850.3:c.4638C>T, XM_011539850.2:c.4638C>T, XM_011539850.1:c.4638C>T, XM_017016310.3:c.5793C>T, XM_017016310.2:c.5793C>T, XM_017016310.1:c.5793C>T, XM_017016312.3:c.4779C>T, XM_017016312.2:c.4779C>T, XM_017016312.1:c.4779C>T, XM_017016311.3:c.5793C>T, XM_017016311.2:c.5793C>T, XM_017016311.1:c.5793C>T, XM_047425285.1:c.5793C>T, XM_047425289.1:c.5751C>T, XM_047425297.1:c.5703C>T, XM_047425287.1:c.5793C>T, XM_047425286.1:c.5793C>T, XM_047425290.1:c.5751C>T, XM_047425299.1:c.5703C>T, XM_047425284.1:c.5793C>T, XM_047425295.1:c.5745C>T, XM_047425291.1:c.5751C>T, XM_047425296.1:c.5745C>T, XM_047425298.1:c.5703C>T, XM_047425302.1:c.4821C>T, XM_047425294.1:c.5751C>T, XM_047425288.1:c.5790C>T, XM_047425292.1:c.5751C>T, XM_047425303.1:c.4596C>T, XM_047425293.1:c.5751C>T, XM_047425300.1:c.5703C>T, XM_047425301.1:c.4827C>T

                            14.

                            rs1483973768 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:94132213 (GRCh38)
                              10:95891970 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:94132212:G:A
                              Gene:
                              PLCE1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.94132213G>A, NC_000010.10:g.95891970G>A, NG_015799.1:g.143225G>A, NM_016341.4:c.1246G>A, NM_016341.3:c.1246G>A, NM_001288989.2:c.1246G>A, NM_001288989.1:c.1246G>A, NM_001165979.2:c.322G>A, NM_001165979.1:c.322G>A, XM_006717885.5:c.1246G>A, XM_006717885.4:c.1246G>A, XM_006717885.3:c.1246G>A, XM_006717885.2:c.1246G>A, XM_006717885.1:c.1246G>A, XM_006717888.5:c.1246G>A, XM_006717888.4:c.1246G>A, XM_006717888.3:c.1246G>A, XM_006717888.2:c.1246G>A, XM_006717888.1:c.1246G>A, XM_006717890.4:c.322G>A, XM_006717890.3:c.322G>A, XM_006717890.2:c.322G>A, XM_006717890.1:c.322G>A, XM_011539850.4:c.91G>A, XM_011539850.3:c.91G>A, XM_011539850.2:c.91G>A, XM_011539850.1:c.91G>A, XM_011539851.4:c.1246G>A, XM_011539851.3:c.1246G>A, XM_011539851.2:c.1246G>A, XM_011539851.1:c.1246G>A, XM_011539852.4:c.1246G>A, XM_011539852.3:c.1246G>A, XM_011539852.2:c.1246G>A, XM_011539852.1:c.1246G>A, XM_017016310.3:c.1246G>A, XM_017016310.2:c.1246G>A, XM_017016310.1:c.1246G>A, XM_017016312.3:c.322G>A, XM_017016312.2:c.322G>A, XM_017016312.1:c.322G>A, XM_017016311.3:c.1246G>A, XM_017016311.2:c.1246G>A, XM_017016311.1:c.1246G>A, XM_047425285.1:c.1246G>A, XM_047425289.1:c.1246G>A, XM_047425297.1:c.1246G>A, XM_047425287.1:c.1246G>A, XM_047425286.1:c.1246G>A, XM_047425290.1:c.1246G>A, XM_047425299.1:c.1246G>A, XM_047425284.1:c.1246G>A, XM_047425295.1:c.1246G>A, XM_047425291.1:c.1246G>A, XM_047425296.1:c.1246G>A, XM_047425298.1:c.1246G>A, XM_047425302.1:c.322G>A, XM_047425294.1:c.1246G>A, XM_047425288.1:c.1246G>A, XM_047425292.1:c.1246G>A, XM_047425303.1:c.91G>A, XM_047425293.1:c.1246G>A, XM_047425300.1:c.1246G>A, XM_047425301.1:c.322G>A, NP_057425.3:p.Val416Ile, NP_001275918.1:p.Val416Ile, NP_001159451.1:p.Val108Ile, XP_006717948.1:p.Val416Ile, XP_006717951.1:p.Val416Ile, XP_006717953.1:p.Val108Ile, XP_011538152.1:p.Val31Ile, XP_011538153.1:p.Val416Ile, XP_011538154.1:p.Val416Ile, XP_016871799.1:p.Val416Ile, XP_016871801.1:p.Val108Ile, XP_016871800.1:p.Val416Ile, XP_047281241.1:p.Val416Ile, XP_047281245.1:p.Val416Ile, XP_047281253.1:p.Val416Ile, XP_047281243.1:p.Val416Ile, XP_047281242.1:p.Val416Ile, XP_047281246.1:p.Val416Ile, XP_047281255.1:p.Val416Ile, XP_047281240.1:p.Val416Ile, XP_047281251.1:p.Val416Ile, XP_047281247.1:p.Val416Ile, XP_047281252.1:p.Val416Ile, XP_047281254.1:p.Val416Ile, XP_047281258.1:p.Val108Ile, XP_047281250.1:p.Val416Ile, XP_047281244.1:p.Val416Ile, XP_047281248.1:p.Val416Ile, XP_047281259.1:p.Val31Ile, XP_047281249.1:p.Val416Ile, XP_047281256.1:p.Val416Ile, XP_047281257.1:p.Val108Ile

                              15.

                              rs1483735757 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:94171238 (GRCh38)
                                10:95930995 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:94171237:G:A
                                Gene:
                                PLCE1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.94171238G>A, NC_000010.10:g.95930995G>A, NG_015799.1:g.182250G>A, NM_016341.4:c.1551G>A, NM_016341.3:c.1551G>A, NM_001288989.2:c.1551G>A, NM_001288989.1:c.1551G>A, NM_001165979.2:c.627G>A, NM_001165979.1:c.627G>A, XM_006717885.5:c.1551G>A, XM_006717885.4:c.1551G>A, XM_006717885.3:c.1551G>A, XM_006717885.2:c.1551G>A, XM_006717885.1:c.1551G>A, XM_006717888.5:c.1551G>A, XM_006717888.4:c.1551G>A, XM_006717888.3:c.1551G>A, XM_006717888.2:c.1551G>A, XM_006717888.1:c.1551G>A, XM_006717890.4:c.627G>A, XM_006717890.3:c.627G>A, XM_006717890.2:c.627G>A, XM_006717890.1:c.627G>A, XM_011539850.4:c.396G>A, XM_011539850.3:c.396G>A, XM_011539850.2:c.396G>A, XM_011539850.1:c.396G>A, XM_011539851.4:c.1551G>A, XM_011539851.3:c.1551G>A, XM_011539851.2:c.1551G>A, XM_011539851.1:c.1551G>A, XM_011539852.4:c.1551G>A, XM_011539852.3:c.1551G>A, XM_011539852.2:c.1551G>A, XM_011539852.1:c.1551G>A, XM_017016310.3:c.1551G>A, XM_017016310.2:c.1551G>A, XM_017016310.1:c.1551G>A, XM_017016312.3:c.627G>A, XM_017016312.2:c.627G>A, XM_017016312.1:c.627G>A, XM_017016311.3:c.1551G>A, XM_017016311.2:c.1551G>A, XM_017016311.1:c.1551G>A, XM_047425285.1:c.1551G>A, XM_047425289.1:c.1551G>A, XM_047425297.1:c.1551G>A, XM_047425287.1:c.1551G>A, XM_047425286.1:c.1551G>A, XM_047425290.1:c.1551G>A, XM_047425299.1:c.1551G>A, XM_047425284.1:c.1551G>A, XM_047425295.1:c.1551G>A, XM_047425291.1:c.1551G>A, XM_047425296.1:c.1551G>A, XM_047425298.1:c.1551G>A, XM_047425302.1:c.627G>A, XM_047425294.1:c.1551G>A, XM_047425288.1:c.1551G>A, XM_047425292.1:c.1551G>A, XM_047425303.1:c.396G>A, XM_047425293.1:c.1551G>A, XM_047425300.1:c.1551G>A, XM_047425301.1:c.627G>A

                                16.

                                rs1483493650 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:94031203 (GRCh38)
                                  10:95790960 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:94031202:A:G
                                  Gene:
                                  PLCE1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.94031203A>G, NC_000010.10:g.95790960A>G, NG_015799.1:g.42215A>G, NM_016341.4:c.157A>G, NM_016341.3:c.157A>G, NM_001288989.2:c.157A>G, NM_001288989.1:c.157A>G, XM_006717885.5:c.157A>G, XM_006717885.4:c.157A>G, XM_006717885.3:c.157A>G, XM_006717885.2:c.157A>G, XM_006717885.1:c.157A>G, XM_006717888.5:c.157A>G, XM_006717888.4:c.157A>G, XM_006717888.3:c.157A>G, XM_006717888.2:c.157A>G, XM_006717888.1:c.157A>G, XM_011539851.4:c.157A>G, XM_011539851.3:c.157A>G, XM_011539851.2:c.157A>G, XM_011539851.1:c.157A>G, XM_011539852.4:c.157A>G, XM_011539852.3:c.157A>G, XM_011539852.2:c.157A>G, XM_011539852.1:c.157A>G, XM_017016310.3:c.157A>G, XM_017016310.2:c.157A>G, XM_017016310.1:c.157A>G, XM_017016311.3:c.157A>G, XM_017016311.2:c.157A>G, XM_017016311.1:c.157A>G, XM_047425285.1:c.157A>G, XM_047425289.1:c.157A>G, XM_047425297.1:c.157A>G, XM_047425287.1:c.157A>G, XM_047425286.1:c.157A>G, XM_047425290.1:c.157A>G, XM_047425299.1:c.157A>G, XM_047425284.1:c.157A>G, XM_047425295.1:c.157A>G, XM_047425291.1:c.157A>G, XM_047425296.1:c.157A>G, XM_047425298.1:c.157A>G, XM_047425294.1:c.157A>G, XM_047425288.1:c.157A>G, XM_047425292.1:c.157A>G, XM_047425293.1:c.157A>G, XM_047425300.1:c.157A>G, NP_057425.3:p.Thr53Ala, NP_001275918.1:p.Thr53Ala, XP_006717948.1:p.Thr53Ala, XP_006717951.1:p.Thr53Ala, XP_011538153.1:p.Thr53Ala, XP_011538154.1:p.Thr53Ala, XP_016871799.1:p.Thr53Ala, XP_016871800.1:p.Thr53Ala, XP_047281241.1:p.Thr53Ala, XP_047281245.1:p.Thr53Ala, XP_047281253.1:p.Thr53Ala, XP_047281243.1:p.Thr53Ala, XP_047281242.1:p.Thr53Ala, XP_047281246.1:p.Thr53Ala, XP_047281255.1:p.Thr53Ala, XP_047281240.1:p.Thr53Ala, XP_047281251.1:p.Thr53Ala, XP_047281247.1:p.Thr53Ala, XP_047281252.1:p.Thr53Ala, XP_047281254.1:p.Thr53Ala, XP_047281250.1:p.Thr53Ala, XP_047281244.1:p.Thr53Ala, XP_047281248.1:p.Thr53Ala, XP_047281249.1:p.Thr53Ala, XP_047281256.1:p.Thr53Ala

                                  17.

                                  rs1483179479 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:94032055 (GRCh38)
                                    10:95791812 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:94032054:A:G
                                    Gene:
                                    PLCE1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000010.11:g.94032055A>G, NC_000010.10:g.95791812A>G, NG_015799.1:g.43067A>G, NM_016341.4:c.1009A>G, NM_016341.3:c.1009A>G, NM_001288989.2:c.1009A>G, NM_001288989.1:c.1009A>G, XM_006717885.5:c.1009A>G, XM_006717885.4:c.1009A>G, XM_006717885.3:c.1009A>G, XM_006717885.2:c.1009A>G, XM_006717885.1:c.1009A>G, XM_006717888.5:c.1009A>G, XM_006717888.4:c.1009A>G, XM_006717888.3:c.1009A>G, XM_006717888.2:c.1009A>G, XM_006717888.1:c.1009A>G, XM_011539851.4:c.1009A>G, XM_011539851.3:c.1009A>G, XM_011539851.2:c.1009A>G, XM_011539851.1:c.1009A>G, XM_011539852.4:c.1009A>G, XM_011539852.3:c.1009A>G, XM_011539852.2:c.1009A>G, XM_011539852.1:c.1009A>G, XM_017016310.3:c.1009A>G, XM_017016310.2:c.1009A>G, XM_017016310.1:c.1009A>G, XM_017016311.3:c.1009A>G, XM_017016311.2:c.1009A>G, XM_017016311.1:c.1009A>G, XM_047425285.1:c.1009A>G, XM_047425289.1:c.1009A>G, XM_047425297.1:c.1009A>G, XM_047425287.1:c.1009A>G, XM_047425286.1:c.1009A>G, XM_047425290.1:c.1009A>G, XM_047425299.1:c.1009A>G, XM_047425284.1:c.1009A>G, XM_047425295.1:c.1009A>G, XM_047425291.1:c.1009A>G, XM_047425296.1:c.1009A>G, XM_047425298.1:c.1009A>G, XM_047425294.1:c.1009A>G, XM_047425288.1:c.1009A>G, XM_047425292.1:c.1009A>G, XM_047425293.1:c.1009A>G, XM_047425300.1:c.1009A>G, NP_057425.3:p.Lys337Glu, NP_001275918.1:p.Lys337Glu, XP_006717948.1:p.Lys337Glu, XP_006717951.1:p.Lys337Glu, XP_011538153.1:p.Lys337Glu, XP_011538154.1:p.Lys337Glu, XP_016871799.1:p.Lys337Glu, XP_016871800.1:p.Lys337Glu, XP_047281241.1:p.Lys337Glu, XP_047281245.1:p.Lys337Glu, XP_047281253.1:p.Lys337Glu, XP_047281243.1:p.Lys337Glu, XP_047281242.1:p.Lys337Glu, XP_047281246.1:p.Lys337Glu, XP_047281255.1:p.Lys337Glu, XP_047281240.1:p.Lys337Glu, XP_047281251.1:p.Lys337Glu, XP_047281247.1:p.Lys337Glu, XP_047281252.1:p.Lys337Glu, XP_047281254.1:p.Lys337Glu, XP_047281250.1:p.Lys337Glu, XP_047281244.1:p.Lys337Glu, XP_047281248.1:p.Lys337Glu, XP_047281249.1:p.Lys337Glu, XP_047281256.1:p.Lys337Glu

                                    18.

                                    rs1483120820 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      10:94254996 (GRCh38)
                                      10:96014753 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:94254995:C:T
                                      Gene:
                                      PLCE1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.94254996C>T, NC_000010.10:g.96014753C>T, NG_015799.1:g.266008C>T, NM_016341.4:c.3501C>T, NM_016341.3:c.3501C>T, NM_001288989.2:c.3501C>T, NM_001288989.1:c.3501C>T, NM_001165979.2:c.2577C>T, NM_001165979.1:c.2577C>T, XM_006717885.5:c.3501C>T, XM_006717885.4:c.3501C>T, XM_006717885.3:c.3501C>T, XM_006717885.2:c.3501C>T, XM_006717885.1:c.3501C>T, XM_006717888.5:c.3501C>T, XM_006717888.4:c.3501C>T, XM_006717888.3:c.3501C>T, XM_006717888.2:c.3501C>T, XM_006717888.1:c.3501C>T, XM_006717890.4:c.2577C>T, XM_006717890.3:c.2577C>T, XM_006717890.2:c.2577C>T, XM_006717890.1:c.2577C>T, XM_011539850.4:c.2346C>T, XM_011539850.3:c.2346C>T, XM_011539850.2:c.2346C>T, XM_011539850.1:c.2346C>T, XM_011539851.4:c.3501C>T, XM_011539851.3:c.3501C>T, XM_011539851.2:c.3501C>T, XM_011539851.1:c.3501C>T, XM_011539852.4:c.3501C>T, XM_011539852.3:c.3501C>T, XM_011539852.2:c.3501C>T, XM_011539852.1:c.3501C>T, XM_017016310.3:c.3501C>T, XM_017016310.2:c.3501C>T, XM_017016310.1:c.3501C>T, XM_017016312.3:c.2577C>T, XM_017016312.2:c.2577C>T, XM_017016312.1:c.2577C>T, XM_017016311.3:c.3501C>T, XM_017016311.2:c.3501C>T, XM_017016311.1:c.3501C>T, XM_047425285.1:c.3501C>T, XM_047425289.1:c.3501C>T, XM_047425297.1:c.3501C>T, XM_047425287.1:c.3501C>T, XM_047425286.1:c.3501C>T, XM_047425290.1:c.3501C>T, XM_047425299.1:c.3501C>T, XM_047425284.1:c.3501C>T, XM_047425295.1:c.3501C>T, XM_047425291.1:c.3501C>T, XM_047425296.1:c.3501C>T, XM_047425298.1:c.3501C>T, XM_047425302.1:c.2577C>T, XM_047425294.1:c.3501C>T, XM_047425288.1:c.3501C>T, XM_047425292.1:c.3501C>T, XM_047425303.1:c.2346C>T, XM_047425293.1:c.3501C>T, XM_047425300.1:c.3501C>T, XM_047425301.1:c.2577C>T

                                      19.

                                      rs1482772158 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        10:94132279 (GRCh38)
                                        10:95892036 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:94132278:G:A
                                        Gene:
                                        PLCE1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0./0 (GnomAD)
                                        A=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.94132279G>A, NC_000010.10:g.95892036G>A, NG_015799.1:g.143291G>A, NM_016341.4:c.1312G>A, NM_016341.3:c.1312G>A, NM_001288989.2:c.1312G>A, NM_001288989.1:c.1312G>A, NM_001165979.2:c.388G>A, NM_001165979.1:c.388G>A, XM_006717885.5:c.1312G>A, XM_006717885.4:c.1312G>A, XM_006717885.3:c.1312G>A, XM_006717885.2:c.1312G>A, XM_006717885.1:c.1312G>A, XM_006717888.5:c.1312G>A, XM_006717888.4:c.1312G>A, XM_006717888.3:c.1312G>A, XM_006717888.2:c.1312G>A, XM_006717888.1:c.1312G>A, XM_006717890.4:c.388G>A, XM_006717890.3:c.388G>A, XM_006717890.2:c.388G>A, XM_006717890.1:c.388G>A, XM_011539850.4:c.157G>A, XM_011539850.3:c.157G>A, XM_011539850.2:c.157G>A, XM_011539850.1:c.157G>A, XM_011539851.4:c.1312G>A, XM_011539851.3:c.1312G>A, XM_011539851.2:c.1312G>A, XM_011539851.1:c.1312G>A, XM_011539852.4:c.1312G>A, XM_011539852.3:c.1312G>A, XM_011539852.2:c.1312G>A, XM_011539852.1:c.1312G>A, XM_017016310.3:c.1312G>A, XM_017016310.2:c.1312G>A, XM_017016310.1:c.1312G>A, XM_017016312.3:c.388G>A, XM_017016312.2:c.388G>A, XM_017016312.1:c.388G>A, XM_017016311.3:c.1312G>A, XM_017016311.2:c.1312G>A, XM_017016311.1:c.1312G>A, XM_047425285.1:c.1312G>A, XM_047425289.1:c.1312G>A, XM_047425297.1:c.1312G>A, XM_047425287.1:c.1312G>A, XM_047425286.1:c.1312G>A, XM_047425290.1:c.1312G>A, XM_047425299.1:c.1312G>A, XM_047425284.1:c.1312G>A, XM_047425295.1:c.1312G>A, XM_047425291.1:c.1312G>A, XM_047425296.1:c.1312G>A, XM_047425298.1:c.1312G>A, XM_047425302.1:c.388G>A, XM_047425294.1:c.1312G>A, XM_047425288.1:c.1312G>A, XM_047425292.1:c.1312G>A, XM_047425303.1:c.157G>A, XM_047425293.1:c.1312G>A, XM_047425300.1:c.1312G>A, XM_047425301.1:c.388G>A, NP_057425.3:p.Val438Ile, NP_001275918.1:p.Val438Ile, NP_001159451.1:p.Val130Ile, XP_006717948.1:p.Val438Ile, XP_006717951.1:p.Val438Ile, XP_006717953.1:p.Val130Ile, XP_011538152.1:p.Val53Ile, XP_011538153.1:p.Val438Ile, XP_011538154.1:p.Val438Ile, XP_016871799.1:p.Val438Ile, XP_016871801.1:p.Val130Ile, XP_016871800.1:p.Val438Ile, XP_047281241.1:p.Val438Ile, XP_047281245.1:p.Val438Ile, XP_047281253.1:p.Val438Ile, XP_047281243.1:p.Val438Ile, XP_047281242.1:p.Val438Ile, XP_047281246.1:p.Val438Ile, XP_047281255.1:p.Val438Ile, XP_047281240.1:p.Val438Ile, XP_047281251.1:p.Val438Ile, XP_047281247.1:p.Val438Ile, XP_047281252.1:p.Val438Ile, XP_047281254.1:p.Val438Ile, XP_047281258.1:p.Val130Ile, XP_047281250.1:p.Val438Ile, XP_047281244.1:p.Val438Ile, XP_047281248.1:p.Val438Ile, XP_047281259.1:p.Val53Ile, XP_047281249.1:p.Val438Ile, XP_047281256.1:p.Val438Ile, XP_047281257.1:p.Val130Ile

                                        20.

                                        rs1482571864 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:94246252 (GRCh38)
                                          10:96006009 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:94246251:T:C
                                          Gene:
                                          PLCE1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_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_000010.11:g.94246252T>C, NC_000010.10:g.96006009T>C, NG_015799.1:g.257264T>C, NM_016341.4:c.2727T>C, NM_016341.3:c.2727T>C, NM_001288989.2:c.2727T>C, NM_001288989.1:c.2727T>C, NM_001165979.2:c.1803T>C, NM_001165979.1:c.1803T>C, XM_006717885.5:c.2727T>C, XM_006717885.4:c.2727T>C, XM_006717885.3:c.2727T>C, XM_006717885.2:c.2727T>C, XM_006717885.1:c.2727T>C, XM_006717888.5:c.2727T>C, XM_006717888.4:c.2727T>C, XM_006717888.3:c.2727T>C, XM_006717888.2:c.2727T>C, XM_006717888.1:c.2727T>C, XM_006717890.4:c.1803T>C, XM_006717890.3:c.1803T>C, XM_006717890.2:c.1803T>C, XM_006717890.1:c.1803T>C, XM_011539850.4:c.1572T>C, XM_011539850.3:c.1572T>C, XM_011539850.2:c.1572T>C, XM_011539850.1:c.1572T>C, XM_011539851.4:c.2727T>C, XM_011539851.3:c.2727T>C, XM_011539851.2:c.2727T>C, XM_011539851.1:c.2727T>C, XM_011539852.4:c.2727T>C, XM_011539852.3:c.2727T>C, XM_011539852.2:c.2727T>C, XM_011539852.1:c.2727T>C, XM_017016310.3:c.2727T>C, XM_017016310.2:c.2727T>C, XM_017016310.1:c.2727T>C, XM_017016312.3:c.1803T>C, XM_017016312.2:c.1803T>C, XM_017016312.1:c.1803T>C, XM_017016311.3:c.2727T>C, XM_017016311.2:c.2727T>C, XM_017016311.1:c.2727T>C, XM_047425285.1:c.2727T>C, XM_047425289.1:c.2727T>C, XM_047425297.1:c.2727T>C, XM_047425287.1:c.2727T>C, XM_047425286.1:c.2727T>C, XM_047425290.1:c.2727T>C, XM_047425299.1:c.2727T>C, XM_047425284.1:c.2727T>C, XM_047425295.1:c.2727T>C, XM_047425291.1:c.2727T>C, XM_047425296.1:c.2727T>C, XM_047425298.1:c.2727T>C, XM_047425302.1:c.1803T>C, XM_047425294.1:c.2727T>C, XM_047425288.1:c.2727T>C, XM_047425292.1:c.2727T>C, XM_047425303.1:c.1572T>C, XM_047425293.1:c.2727T>C, XM_047425300.1:c.2727T>C, XM_047425301.1:c.1803T>C

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