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Items: 1 to 20 of 728

1.

rs1489147489 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    4:153704879 (GRCh38)
    4:154626031 (GRCh37)
    Canonical SPDI:
    NC_000004.12:153704878:C:G
    Gene:
    TLR2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.153704879C>G, NC_000004.11:g.154626031C>G, NG_016229.1:g.25591C>G, NM_003264.5:c.1972C>G, NM_003264.4:c.1972C>G, NM_003264.3:c.1972C>G, NM_001318787.2:c.1972C>G, NM_001318787.1:c.1972C>G, NM_001318789.2:c.1972C>G, NM_001318789.1:c.1972C>G, NM_001318790.2:c.1972C>G, NM_001318790.1:c.1972C>G, NM_001318791.2:c.1972C>G, NM_001318791.1:c.1972C>G, NM_001318793.2:c.1972C>G, NM_001318793.1:c.1972C>G, NM_001318795.2:c.1972C>G, NM_001318795.1:c.1972C>G, NM_001318796.2:c.1972C>G, NM_001318796.1:c.1972C>G, XM_011532215.3:c.1972C>G, XM_011532215.2:c.1972C>G, XM_011532215.1:c.1972C>G, XM_011532216.3:c.1972C>G, XM_011532216.2:c.1972C>G, XM_011532216.1:c.1972C>G, XM_017008573.2:c.1972C>G, XM_017008573.1:c.1972C>G, XM_017008575.2:c.1972C>G, XM_017008575.1:c.1972C>G, XM_047416111.1:c.1972C>G, XM_047416113.1:c.1972C>G, XM_047416112.1:c.1972C>G, XM_047416114.1:c.1972C>G, NP_003255.2:p.Leu658Val, NP_001305716.1:p.Leu658Val, NP_001305718.1:p.Leu658Val, NP_001305719.1:p.Leu658Val, NP_001305720.1:p.Leu658Val, NP_001305722.1:p.Leu658Val, NP_001305724.1:p.Leu658Val, NP_001305725.1:p.Leu658Val, XP_011530517.1:p.Leu658Val, XP_011530518.1:p.Leu658Val, XP_016864062.1:p.Leu658Val, XP_016864064.1:p.Leu658Val, XP_047272067.1:p.Leu658Val, XP_047272069.1:p.Leu658Val, XP_047272068.1:p.Leu658Val, XP_047272070.1:p.Leu658Val

    2.

    rs1488858571 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      4:153705059 (GRCh38)
      4:154626211 (GRCh37)
      Canonical SPDI:
      NC_000004.12:153705058:G:C
      Gene:
      TLR2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000004.12:g.153705059G>C, NC_000004.11:g.154626211G>C, NG_016229.1:g.25771G>C, NM_003264.5:c.2152G>C, NM_003264.4:c.2152G>C, NM_003264.3:c.2152G>C, NM_001318787.2:c.2152G>C, NM_001318787.1:c.2152G>C, NM_001318789.2:c.2152G>C, NM_001318789.1:c.2152G>C, NM_001318790.2:c.2152G>C, NM_001318790.1:c.2152G>C, NM_001318791.2:c.2152G>C, NM_001318791.1:c.2152G>C, NM_001318793.2:c.2152G>C, NM_001318793.1:c.2152G>C, NM_001318795.2:c.2152G>C, NM_001318795.1:c.2152G>C, NM_001318796.2:c.2152G>C, NM_001318796.1:c.2152G>C, XM_011532215.3:c.2152G>C, XM_011532215.2:c.2152G>C, XM_011532215.1:c.2152G>C, XM_011532216.3:c.2152G>C, XM_011532216.2:c.2152G>C, XM_011532216.1:c.2152G>C, XM_017008573.2:c.2152G>C, XM_017008573.1:c.2152G>C, XM_017008575.2:c.2152G>C, XM_017008575.1:c.2152G>C, XM_047416111.1:c.2152G>C, XM_047416113.1:c.2152G>C, XM_047416112.1:c.2152G>C, XM_047416114.1:c.2152G>C, NP_003255.2:p.Asp718His, NP_001305716.1:p.Asp718His, NP_001305718.1:p.Asp718His, NP_001305719.1:p.Asp718His, NP_001305720.1:p.Asp718His, NP_001305722.1:p.Asp718His, NP_001305724.1:p.Asp718His, NP_001305725.1:p.Asp718His, XP_011530517.1:p.Asp718His, XP_011530518.1:p.Asp718His, XP_016864062.1:p.Asp718His, XP_016864064.1:p.Asp718His, XP_047272067.1:p.Asp718His, XP_047272069.1:p.Asp718His, XP_047272068.1:p.Asp718His, XP_047272070.1:p.Asp718His

      3.

      rs1487605388 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:153704567 (GRCh38)
        4:154625719 (GRCh37)
        Canonical SPDI:
        NC_000004.12:153704566:G:A
        Gene:
        TLR2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000004.12:g.153704567G>A, NC_000004.11:g.154625719G>A, NG_016229.1:g.25279G>A, NM_003264.5:c.1660G>A, NM_003264.4:c.1660G>A, NM_003264.3:c.1660G>A, NM_001318787.2:c.1660G>A, NM_001318787.1:c.1660G>A, NM_001318789.2:c.1660G>A, NM_001318789.1:c.1660G>A, NM_001318790.2:c.1660G>A, NM_001318790.1:c.1660G>A, NM_001318791.2:c.1660G>A, NM_001318791.1:c.1660G>A, NM_001318793.2:c.1660G>A, NM_001318793.1:c.1660G>A, NM_001318795.2:c.1660G>A, NM_001318795.1:c.1660G>A, NM_001318796.2:c.1660G>A, NM_001318796.1:c.1660G>A, XM_011532215.3:c.1660G>A, XM_011532215.2:c.1660G>A, XM_011532215.1:c.1660G>A, XM_011532216.3:c.1660G>A, XM_011532216.2:c.1660G>A, XM_011532216.1:c.1660G>A, XM_017008573.2:c.1660G>A, XM_017008573.1:c.1660G>A, XM_017008575.2:c.1660G>A, XM_017008575.1:c.1660G>A, XM_047416111.1:c.1660G>A, XM_047416113.1:c.1660G>A, XM_047416112.1:c.1660G>A, XM_047416114.1:c.1660G>A, NP_003255.2:p.Val554Ile, NP_001305716.1:p.Val554Ile, NP_001305718.1:p.Val554Ile, NP_001305719.1:p.Val554Ile, NP_001305720.1:p.Val554Ile, NP_001305722.1:p.Val554Ile, NP_001305724.1:p.Val554Ile, NP_001305725.1:p.Val554Ile, XP_011530517.1:p.Val554Ile, XP_011530518.1:p.Val554Ile, XP_016864062.1:p.Val554Ile, XP_016864064.1:p.Val554Ile, XP_047272067.1:p.Val554Ile, XP_047272069.1:p.Val554Ile, XP_047272068.1:p.Val554Ile, XP_047272070.1:p.Val554Ile

        4.

        rs1486085411 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          4:153703976 (GRCh38)
          4:154625128 (GRCh37)
          Canonical SPDI:
          NC_000004.12:153703975:C:G
          Gene:
          TLR2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000004.12:g.153703976C>G, NC_000004.11:g.154625128C>G, NG_016229.1:g.24688C>G, NM_003264.5:c.1069C>G, NM_003264.4:c.1069C>G, NM_003264.3:c.1069C>G, NM_001318787.2:c.1069C>G, NM_001318787.1:c.1069C>G, NM_001318789.2:c.1069C>G, NM_001318789.1:c.1069C>G, NM_001318790.2:c.1069C>G, NM_001318790.1:c.1069C>G, NM_001318791.2:c.1069C>G, NM_001318791.1:c.1069C>G, NM_001318793.2:c.1069C>G, NM_001318793.1:c.1069C>G, NM_001318795.2:c.1069C>G, NM_001318795.1:c.1069C>G, NM_001318796.2:c.1069C>G, NM_001318796.1:c.1069C>G, XM_011532215.3:c.1069C>G, XM_011532215.2:c.1069C>G, XM_011532215.1:c.1069C>G, XM_011532216.3:c.1069C>G, XM_011532216.2:c.1069C>G, XM_011532216.1:c.1069C>G, XM_017008573.2:c.1069C>G, XM_017008573.1:c.1069C>G, XM_017008575.2:c.1069C>G, XM_017008575.1:c.1069C>G, XM_047416111.1:c.1069C>G, XM_047416113.1:c.1069C>G, XM_047416112.1:c.1069C>G, XM_047416114.1:c.1069C>G, NP_003255.2:p.Gln357Glu, NP_001305716.1:p.Gln357Glu, NP_001305718.1:p.Gln357Glu, NP_001305719.1:p.Gln357Glu, NP_001305720.1:p.Gln357Glu, NP_001305722.1:p.Gln357Glu, NP_001305724.1:p.Gln357Glu, NP_001305725.1:p.Gln357Glu, XP_011530517.1:p.Gln357Glu, XP_011530518.1:p.Gln357Glu, XP_016864062.1:p.Gln357Glu, XP_016864064.1:p.Gln357Glu, XP_047272067.1:p.Gln357Glu, XP_047272069.1:p.Gln357Glu, XP_047272068.1:p.Gln357Glu, XP_047272070.1:p.Gln357Glu

          5.

          rs1485351103 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            4:153702952 (GRCh38)
            4:154624104 (GRCh37)
            Canonical SPDI:
            NC_000004.12:153702951:C:T
            Gene:
            TLR2 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            HGVS:
            NC_000004.12:g.153702952C>T, NC_000004.11:g.154624104C>T, NG_016229.1:g.23664C>T, NM_003264.5:c.45C>T, NM_003264.4:c.45C>T, NM_003264.3:c.45C>T, NM_001318787.2:c.45C>T, NM_001318787.1:c.45C>T, NM_001318789.2:c.45C>T, NM_001318789.1:c.45C>T, NM_001318790.2:c.45C>T, NM_001318790.1:c.45C>T, NM_001318791.2:c.45C>T, NM_001318791.1:c.45C>T, NM_001318793.2:c.45C>T, NM_001318793.1:c.45C>T, NM_001318795.2:c.45C>T, NM_001318795.1:c.45C>T, NM_001318796.2:c.45C>T, NM_001318796.1:c.45C>T, XM_011532215.3:c.45C>T, XM_011532215.2:c.45C>T, XM_011532215.1:c.45C>T, XM_011532216.3:c.45C>T, XM_011532216.2:c.45C>T, XM_011532216.1:c.45C>T, XM_017008573.2:c.45C>T, XM_017008573.1:c.45C>T, XM_017008575.2:c.45C>T, XM_017008575.1:c.45C>T, XM_047416111.1:c.45C>T, XM_047416113.1:c.45C>T, XM_047416112.1:c.45C>T, XM_047416114.1:c.45C>T

            6.

            rs1484893915 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              4:153703648 (GRCh38)
              4:154624800 (GRCh37)
              Canonical SPDI:
              NC_000004.12:153703647:A:G
              Gene:
              TLR2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              G=0.000106/2 (TOMMO)
              HGVS:
              NC_000004.12:g.153703648A>G, NC_000004.11:g.154624800A>G, NG_016229.1:g.24360A>G, NM_003264.5:c.741A>G, NM_003264.4:c.741A>G, NM_003264.3:c.741A>G, NM_001318787.2:c.741A>G, NM_001318787.1:c.741A>G, NM_001318789.2:c.741A>G, NM_001318789.1:c.741A>G, NM_001318790.2:c.741A>G, NM_001318790.1:c.741A>G, NM_001318791.2:c.741A>G, NM_001318791.1:c.741A>G, NM_001318793.2:c.741A>G, NM_001318793.1:c.741A>G, NM_001318795.2:c.741A>G, NM_001318795.1:c.741A>G, NM_001318796.2:c.741A>G, NM_001318796.1:c.741A>G, XM_011532215.3:c.741A>G, XM_011532215.2:c.741A>G, XM_011532215.1:c.741A>G, XM_011532216.3:c.741A>G, XM_011532216.2:c.741A>G, XM_011532216.1:c.741A>G, XM_017008573.2:c.741A>G, XM_017008573.1:c.741A>G, XM_017008575.2:c.741A>G, XM_017008575.1:c.741A>G, XM_047416111.1:c.741A>G, XM_047416113.1:c.741A>G, XM_047416112.1:c.741A>G, XM_047416114.1:c.741A>G

              7.

              rs1483078801 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:153702926 (GRCh38)
                4:154624078 (GRCh37)
                Canonical SPDI:
                NC_000004.12:153702925:A:G
                Gene:
                TLR2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000224/1 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000223/1 (Estonian)
                HGVS:
                NC_000004.12:g.153702926A>G, NC_000004.11:g.154624078A>G, NG_016229.1:g.23638A>G, NM_003264.5:c.19A>G, NM_003264.4:c.19A>G, NM_003264.3:c.19A>G, NM_001318787.2:c.19A>G, NM_001318787.1:c.19A>G, NM_001318789.2:c.19A>G, NM_001318789.1:c.19A>G, NM_001318790.2:c.19A>G, NM_001318790.1:c.19A>G, NM_001318791.2:c.19A>G, NM_001318791.1:c.19A>G, NM_001318793.2:c.19A>G, NM_001318793.1:c.19A>G, NM_001318795.2:c.19A>G, NM_001318795.1:c.19A>G, NM_001318796.2:c.19A>G, NM_001318796.1:c.19A>G, XM_011532215.3:c.19A>G, XM_011532215.2:c.19A>G, XM_011532215.1:c.19A>G, XM_011532216.3:c.19A>G, XM_011532216.2:c.19A>G, XM_011532216.1:c.19A>G, XM_017008573.2:c.19A>G, XM_017008573.1:c.19A>G, XM_017008575.2:c.19A>G, XM_017008575.1:c.19A>G, XM_047416111.1:c.19A>G, XM_047416113.1:c.19A>G, XM_047416112.1:c.19A>G, XM_047416114.1:c.19A>G, NP_003255.2:p.Met7Val, NP_001305716.1:p.Met7Val, NP_001305718.1:p.Met7Val, NP_001305719.1:p.Met7Val, NP_001305720.1:p.Met7Val, NP_001305722.1:p.Met7Val, NP_001305724.1:p.Met7Val, NP_001305725.1:p.Met7Val, XP_011530517.1:p.Met7Val, XP_011530518.1:p.Met7Val, XP_016864062.1:p.Met7Val, XP_016864064.1:p.Met7Val, XP_047272067.1:p.Met7Val, XP_047272069.1:p.Met7Val, XP_047272068.1:p.Met7Val, XP_047272070.1:p.Met7Val

                8.

                rs1480846478 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  4:153704779 (GRCh38)
                  4:154625931 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:153704778:G:C
                  Gene:
                  TLR2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000004.12:g.153704779G>C, NC_000004.11:g.154625931G>C, NG_016229.1:g.25491G>C, NM_003264.5:c.1872G>C, NM_003264.4:c.1872G>C, NM_003264.3:c.1872G>C, NM_001318787.2:c.1872G>C, NM_001318787.1:c.1872G>C, NM_001318789.2:c.1872G>C, NM_001318789.1:c.1872G>C, NM_001318790.2:c.1872G>C, NM_001318790.1:c.1872G>C, NM_001318791.2:c.1872G>C, NM_001318791.1:c.1872G>C, NM_001318793.2:c.1872G>C, NM_001318793.1:c.1872G>C, NM_001318795.2:c.1872G>C, NM_001318795.1:c.1872G>C, NM_001318796.2:c.1872G>C, NM_001318796.1:c.1872G>C, XM_011532215.3:c.1872G>C, XM_011532215.2:c.1872G>C, XM_011532215.1:c.1872G>C, XM_011532216.3:c.1872G>C, XM_011532216.2:c.1872G>C, XM_011532216.1:c.1872G>C, XM_017008573.2:c.1872G>C, XM_017008573.1:c.1872G>C, XM_017008575.2:c.1872G>C, XM_017008575.1:c.1872G>C, XM_047416111.1:c.1872G>C, XM_047416113.1:c.1872G>C, XM_047416112.1:c.1872G>C, XM_047416114.1:c.1872G>C, NP_003255.2:p.Trp624Cys, NP_001305716.1:p.Trp624Cys, NP_001305718.1:p.Trp624Cys, NP_001305719.1:p.Trp624Cys, NP_001305720.1:p.Trp624Cys, NP_001305722.1:p.Trp624Cys, NP_001305724.1:p.Trp624Cys, NP_001305725.1:p.Trp624Cys, XP_011530517.1:p.Trp624Cys, XP_011530518.1:p.Trp624Cys, XP_016864062.1:p.Trp624Cys, XP_016864064.1:p.Trp624Cys, XP_047272067.1:p.Trp624Cys, XP_047272069.1:p.Trp624Cys, XP_047272068.1:p.Trp624Cys, XP_047272070.1:p.Trp624Cys

                  9.

                  rs1480664159 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    4:153704782 (GRCh38)
                    4:154625934 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:153704781:C:T
                    Gene:
                    TLR2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.153704782C>T, NC_000004.11:g.154625934C>T, NG_016229.1:g.25494C>T, NM_003264.5:c.1875C>T, NM_003264.4:c.1875C>T, NM_003264.3:c.1875C>T, NM_001318787.2:c.1875C>T, NM_001318787.1:c.1875C>T, NM_001318789.2:c.1875C>T, NM_001318789.1:c.1875C>T, NM_001318790.2:c.1875C>T, NM_001318790.1:c.1875C>T, NM_001318791.2:c.1875C>T, NM_001318791.1:c.1875C>T, NM_001318793.2:c.1875C>T, NM_001318793.1:c.1875C>T, NM_001318795.2:c.1875C>T, NM_001318795.1:c.1875C>T, NM_001318796.2:c.1875C>T, NM_001318796.1:c.1875C>T, XM_011532215.3:c.1875C>T, XM_011532215.2:c.1875C>T, XM_011532215.1:c.1875C>T, XM_011532216.3:c.1875C>T, XM_011532216.2:c.1875C>T, XM_011532216.1:c.1875C>T, XM_017008573.2:c.1875C>T, XM_017008573.1:c.1875C>T, XM_017008575.2:c.1875C>T, XM_017008575.1:c.1875C>T, XM_047416111.1:c.1875C>T, XM_047416113.1:c.1875C>T, XM_047416112.1:c.1875C>T, XM_047416114.1:c.1875C>T

                    10.

                    rs1480445305 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      4:153703401 (GRCh38)
                      4:154624553 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:153703400:T:G
                      Gene:
                      TLR2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.153703401T>G, NC_000004.11:g.154624553T>G, NG_016229.1:g.24113T>G, NM_003264.5:c.494T>G, NM_003264.4:c.494T>G, NM_003264.3:c.494T>G, NM_001318787.2:c.494T>G, NM_001318787.1:c.494T>G, NM_001318789.2:c.494T>G, NM_001318789.1:c.494T>G, NM_001318790.2:c.494T>G, NM_001318790.1:c.494T>G, NM_001318791.2:c.494T>G, NM_001318791.1:c.494T>G, NM_001318793.2:c.494T>G, NM_001318793.1:c.494T>G, NM_001318795.2:c.494T>G, NM_001318795.1:c.494T>G, NM_001318796.2:c.494T>G, NM_001318796.1:c.494T>G, XM_011532215.3:c.494T>G, XM_011532215.2:c.494T>G, XM_011532215.1:c.494T>G, XM_011532216.3:c.494T>G, XM_011532216.2:c.494T>G, XM_011532216.1:c.494T>G, XM_017008573.2:c.494T>G, XM_017008573.1:c.494T>G, XM_017008575.2:c.494T>G, XM_017008575.1:c.494T>G, XM_047416111.1:c.494T>G, XM_047416113.1:c.494T>G, XM_047416112.1:c.494T>G, XM_047416114.1:c.494T>G, NP_003255.2:p.Ile165Ser, NP_001305716.1:p.Ile165Ser, NP_001305718.1:p.Ile165Ser, NP_001305719.1:p.Ile165Ser, NP_001305720.1:p.Ile165Ser, NP_001305722.1:p.Ile165Ser, NP_001305724.1:p.Ile165Ser, NP_001305725.1:p.Ile165Ser, XP_011530517.1:p.Ile165Ser, XP_011530518.1:p.Ile165Ser, XP_016864062.1:p.Ile165Ser, XP_016864064.1:p.Ile165Ser, XP_047272067.1:p.Ile165Ser, XP_047272069.1:p.Ile165Ser, XP_047272068.1:p.Ile165Ser, XP_047272070.1:p.Ile165Ser

                      11.

                      rs1478033039 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:153703126 (GRCh38)
                        4:154624278 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:153703125:G:A
                        Gene:
                        TLR2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.153703126G>A, NC_000004.11:g.154624278G>A, NG_016229.1:g.23838G>A, NM_003264.5:c.219G>A, NM_003264.4:c.219G>A, NM_003264.3:c.219G>A, NM_001318787.2:c.219G>A, NM_001318787.1:c.219G>A, NM_001318789.2:c.219G>A, NM_001318789.1:c.219G>A, NM_001318790.2:c.219G>A, NM_001318790.1:c.219G>A, NM_001318791.2:c.219G>A, NM_001318791.1:c.219G>A, NM_001318793.2:c.219G>A, NM_001318793.1:c.219G>A, NM_001318795.2:c.219G>A, NM_001318795.1:c.219G>A, NM_001318796.2:c.219G>A, NM_001318796.1:c.219G>A, XM_011532215.3:c.219G>A, XM_011532215.2:c.219G>A, XM_011532215.1:c.219G>A, XM_011532216.3:c.219G>A, XM_011532216.2:c.219G>A, XM_011532216.1:c.219G>A, XM_017008573.2:c.219G>A, XM_017008573.1:c.219G>A, XM_017008575.2:c.219G>A, XM_017008575.1:c.219G>A, XM_047416111.1:c.219G>A, XM_047416113.1:c.219G>A, XM_047416112.1:c.219G>A, XM_047416114.1:c.219G>A

                        12.

                        rs1477956981 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:153702921 (GRCh38)
                          4:154624073 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:153702920:T:C
                          Gene:
                          TLR2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000004.12:g.153702921T>C, NC_000004.11:g.154624073T>C, NG_016229.1:g.23633T>C, NM_003264.5:c.14T>C, NM_003264.4:c.14T>C, NM_003264.3:c.14T>C, NM_001318787.2:c.14T>C, NM_001318787.1:c.14T>C, NM_001318789.2:c.14T>C, NM_001318789.1:c.14T>C, NM_001318790.2:c.14T>C, NM_001318790.1:c.14T>C, NM_001318791.2:c.14T>C, NM_001318791.1:c.14T>C, NM_001318793.2:c.14T>C, NM_001318793.1:c.14T>C, NM_001318795.2:c.14T>C, NM_001318795.1:c.14T>C, NM_001318796.2:c.14T>C, NM_001318796.1:c.14T>C, XM_011532215.3:c.14T>C, XM_011532215.2:c.14T>C, XM_011532215.1:c.14T>C, XM_011532216.3:c.14T>C, XM_011532216.2:c.14T>C, XM_011532216.1:c.14T>C, XM_017008573.2:c.14T>C, XM_017008573.1:c.14T>C, XM_017008575.2:c.14T>C, XM_017008575.1:c.14T>C, XM_047416111.1:c.14T>C, XM_047416113.1:c.14T>C, XM_047416112.1:c.14T>C, XM_047416114.1:c.14T>C, NP_003255.2:p.Leu5Ser, NP_001305716.1:p.Leu5Ser, NP_001305718.1:p.Leu5Ser, NP_001305719.1:p.Leu5Ser, NP_001305720.1:p.Leu5Ser, NP_001305722.1:p.Leu5Ser, NP_001305724.1:p.Leu5Ser, NP_001305725.1:p.Leu5Ser, XP_011530517.1:p.Leu5Ser, XP_011530518.1:p.Leu5Ser, XP_016864062.1:p.Leu5Ser, XP_016864064.1:p.Leu5Ser, XP_047272067.1:p.Leu5Ser, XP_047272069.1:p.Leu5Ser, XP_047272068.1:p.Leu5Ser, XP_047272070.1:p.Leu5Ser

                          13.

                          rs1477664551 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:153704721 (GRCh38)
                            4:154625873 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:153704720:C:T
                            Gene:
                            TLR2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            T=0.000024/6 (GnomAD_exomes)
                            T=0.000342/1 (KOREAN)
                            HGVS:
                            NC_000004.12:g.153704721C>T, NC_000004.11:g.154625873C>T, NG_016229.1:g.25433C>T, NM_003264.5:c.1814C>T, NM_003264.4:c.1814C>T, NM_003264.3:c.1814C>T, NM_001318787.2:c.1814C>T, NM_001318787.1:c.1814C>T, NM_001318789.2:c.1814C>T, NM_001318789.1:c.1814C>T, NM_001318790.2:c.1814C>T, NM_001318790.1:c.1814C>T, NM_001318791.2:c.1814C>T, NM_001318791.1:c.1814C>T, NM_001318793.2:c.1814C>T, NM_001318793.1:c.1814C>T, NM_001318795.2:c.1814C>T, NM_001318795.1:c.1814C>T, NM_001318796.2:c.1814C>T, NM_001318796.1:c.1814C>T, XM_011532215.3:c.1814C>T, XM_011532215.2:c.1814C>T, XM_011532215.1:c.1814C>T, XM_011532216.3:c.1814C>T, XM_011532216.2:c.1814C>T, XM_011532216.1:c.1814C>T, XM_017008573.2:c.1814C>T, XM_017008573.1:c.1814C>T, XM_017008575.2:c.1814C>T, XM_017008575.1:c.1814C>T, XM_047416111.1:c.1814C>T, XM_047416113.1:c.1814C>T, XM_047416112.1:c.1814C>T, XM_047416114.1:c.1814C>T, NP_003255.2:p.Thr605Met, NP_001305716.1:p.Thr605Met, NP_001305718.1:p.Thr605Met, NP_001305719.1:p.Thr605Met, NP_001305720.1:p.Thr605Met, NP_001305722.1:p.Thr605Met, NP_001305724.1:p.Thr605Met, NP_001305725.1:p.Thr605Met, XP_011530517.1:p.Thr605Met, XP_011530518.1:p.Thr605Met, XP_016864062.1:p.Thr605Met, XP_016864064.1:p.Thr605Met, XP_047272067.1:p.Thr605Met, XP_047272069.1:p.Thr605Met, XP_047272068.1:p.Thr605Met, XP_047272070.1:p.Thr605Met

                            14.

                            rs1476369792 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:153703196 (GRCh38)
                              4:154624348 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:153703195:T:C
                              Gene:
                              TLR2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.153703196T>C, NC_000004.11:g.154624348T>C, NG_016229.1:g.23908T>C, NM_003264.5:c.289T>C, NM_003264.4:c.289T>C, NM_003264.3:c.289T>C, NM_001318787.2:c.289T>C, NM_001318787.1:c.289T>C, NM_001318789.2:c.289T>C, NM_001318789.1:c.289T>C, NM_001318790.2:c.289T>C, NM_001318790.1:c.289T>C, NM_001318791.2:c.289T>C, NM_001318791.1:c.289T>C, NM_001318793.2:c.289T>C, NM_001318793.1:c.289T>C, NM_001318795.2:c.289T>C, NM_001318795.1:c.289T>C, NM_001318796.2:c.289T>C, NM_001318796.1:c.289T>C, XM_011532215.3:c.289T>C, XM_011532215.2:c.289T>C, XM_011532215.1:c.289T>C, XM_011532216.3:c.289T>C, XM_011532216.2:c.289T>C, XM_011532216.1:c.289T>C, XM_017008573.2:c.289T>C, XM_017008573.1:c.289T>C, XM_017008575.2:c.289T>C, XM_017008575.1:c.289T>C, XM_047416111.1:c.289T>C, XM_047416113.1:c.289T>C, XM_047416112.1:c.289T>C, XM_047416114.1:c.289T>C, NP_003255.2:p.Ser97Pro, NP_001305716.1:p.Ser97Pro, NP_001305718.1:p.Ser97Pro, NP_001305719.1:p.Ser97Pro, NP_001305720.1:p.Ser97Pro, NP_001305722.1:p.Ser97Pro, NP_001305724.1:p.Ser97Pro, NP_001305725.1:p.Ser97Pro, XP_011530517.1:p.Ser97Pro, XP_011530518.1:p.Ser97Pro, XP_016864062.1:p.Ser97Pro, XP_016864064.1:p.Ser97Pro, XP_047272067.1:p.Ser97Pro, XP_047272069.1:p.Ser97Pro, XP_047272068.1:p.Ser97Pro, XP_047272070.1:p.Ser97Pro

                              15.

                              rs1475183630 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:153702911 (GRCh38)
                                4:154624063 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:153702910:C:T
                                Gene:
                                TLR2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000004.12:g.153702911C>T, NC_000004.11:g.154624063C>T, NG_016229.1:g.23623C>T, NM_003264.5:c.4C>T, NM_003264.4:c.4C>T, NM_003264.3:c.4C>T, NM_001318787.2:c.4C>T, NM_001318787.1:c.4C>T, NM_001318789.2:c.4C>T, NM_001318789.1:c.4C>T, NM_001318790.2:c.4C>T, NM_001318790.1:c.4C>T, NM_001318791.2:c.4C>T, NM_001318791.1:c.4C>T, NM_001318793.2:c.4C>T, NM_001318793.1:c.4C>T, NM_001318795.2:c.4C>T, NM_001318795.1:c.4C>T, NM_001318796.2:c.4C>T, NM_001318796.1:c.4C>T, XM_011532215.3:c.4C>T, XM_011532215.2:c.4C>T, XM_011532215.1:c.4C>T, XM_011532216.3:c.4C>T, XM_011532216.2:c.4C>T, XM_011532216.1:c.4C>T, XM_017008573.2:c.4C>T, XM_017008573.1:c.4C>T, XM_017008575.2:c.4C>T, XM_017008575.1:c.4C>T, XM_047416111.1:c.4C>T, XM_047416113.1:c.4C>T, XM_047416112.1:c.4C>T, XM_047416114.1:c.4C>T, NP_003255.2:p.Pro2Ser, NP_001305716.1:p.Pro2Ser, NP_001305718.1:p.Pro2Ser, NP_001305719.1:p.Pro2Ser, NP_001305720.1:p.Pro2Ser, NP_001305722.1:p.Pro2Ser, NP_001305724.1:p.Pro2Ser, NP_001305725.1:p.Pro2Ser, XP_011530517.1:p.Pro2Ser, XP_011530518.1:p.Pro2Ser, XP_016864062.1:p.Pro2Ser, XP_016864064.1:p.Pro2Ser, XP_047272067.1:p.Pro2Ser, XP_047272069.1:p.Pro2Ser, XP_047272068.1:p.Pro2Ser, XP_047272070.1:p.Pro2Ser

                                16.

                                rs1475116183 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  4:153703657 (GRCh38)
                                  4:154624809 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:153703656:G:
                                  Gene:
                                  TLR2 (Varview)
                                  Functional Consequence:
                                  frameshift_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  -=0.000071/1 (TOMMO)
                                  HGVS:
                                  NC_000004.12:g.153703657del, NC_000004.11:g.154624809del, NG_016229.1:g.24369del, NM_003264.5:c.750del, NM_003264.4:c.750del, NM_003264.3:c.750del, NM_001318787.2:c.750del, NM_001318787.1:c.750del, NM_001318789.2:c.750del, NM_001318789.1:c.750del, NM_001318790.2:c.750del, NM_001318790.1:c.750del, NM_001318791.2:c.750del, NM_001318791.1:c.750del, NM_001318793.2:c.750del, NM_001318793.1:c.750del, NM_001318795.2:c.750del, NM_001318795.1:c.750del, NM_001318796.2:c.750del, NM_001318796.1:c.750del, XM_011532215.3:c.750del, XM_011532215.2:c.750del, XM_011532215.1:c.750del, XM_011532216.3:c.750del, XM_011532216.2:c.750del, XM_011532216.1:c.750del, XM_017008573.2:c.750del, XM_017008573.1:c.750del, XM_017008575.2:c.750del, XM_017008575.1:c.750del, XM_047416111.1:c.750del, XM_047416113.1:c.750del, XM_047416112.1:c.750del, XM_047416114.1:c.750del, NP_003255.2:p.Ile251fs, NP_001305716.1:p.Ile251fs, NP_001305718.1:p.Ile251fs, NP_001305719.1:p.Ile251fs, NP_001305720.1:p.Ile251fs, NP_001305722.1:p.Ile251fs, NP_001305724.1:p.Ile251fs, NP_001305725.1:p.Ile251fs, XP_011530517.1:p.Ile251fs, XP_011530518.1:p.Ile251fs, XP_016864062.1:p.Ile251fs, XP_016864064.1:p.Ile251fs, XP_047272067.1:p.Ile251fs, XP_047272069.1:p.Ile251fs, XP_047272068.1:p.Ile251fs, XP_047272070.1:p.Ile251fs

                                  17.

                                  rs1474022754 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:153705138 (GRCh38)
                                    4:154626290 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:153705137:C:T
                                    Gene:
                                    TLR2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000004.12:g.153705138C>T, NC_000004.11:g.154626290C>T, NG_016229.1:g.25850C>T, NM_003264.5:c.2231C>T, NM_003264.4:c.2231C>T, NM_003264.3:c.2231C>T, NM_001318787.2:c.2231C>T, NM_001318787.1:c.2231C>T, NM_001318789.2:c.2231C>T, NM_001318789.1:c.2231C>T, NM_001318790.2:c.2231C>T, NM_001318790.1:c.2231C>T, NM_001318791.2:c.2231C>T, NM_001318791.1:c.2231C>T, NM_001318793.2:c.2231C>T, NM_001318793.1:c.2231C>T, NM_001318795.2:c.2231C>T, NM_001318795.1:c.2231C>T, NM_001318796.2:c.2231C>T, NM_001318796.1:c.2231C>T, XM_011532215.3:c.2231C>T, XM_011532215.2:c.2231C>T, XM_011532215.1:c.2231C>T, XM_011532216.3:c.2231C>T, XM_011532216.2:c.2231C>T, XM_011532216.1:c.2231C>T, XM_017008573.2:c.2231C>T, XM_017008573.1:c.2231C>T, XM_017008575.2:c.2231C>T, XM_017008575.1:c.2231C>T, XM_047416111.1:c.2231C>T, XM_047416113.1:c.2231C>T, XM_047416112.1:c.2231C>T, XM_047416114.1:c.2231C>T, NP_003255.2:p.Ala744Val, NP_001305716.1:p.Ala744Val, NP_001305718.1:p.Ala744Val, NP_001305719.1:p.Ala744Val, NP_001305720.1:p.Ala744Val, NP_001305722.1:p.Ala744Val, NP_001305724.1:p.Ala744Val, NP_001305725.1:p.Ala744Val, XP_011530517.1:p.Ala744Val, XP_011530518.1:p.Ala744Val, XP_016864062.1:p.Ala744Val, XP_016864064.1:p.Ala744Val, XP_047272067.1:p.Ala744Val, XP_047272069.1:p.Ala744Val, XP_047272068.1:p.Ala744Val, XP_047272070.1:p.Ala744Val

                                    18.

                                    rs1471907829 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      4:153704897 (GRCh38)
                                      4:154626049 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:153704896:G:A,NC_000004.12:153704896:G:C
                                      Gene:
                                      TLR2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000004.12:g.153704897G>A, NC_000004.12:g.153704897G>C, NC_000004.11:g.154626049G>A, NC_000004.11:g.154626049G>C, NG_016229.1:g.25609G>A, NG_016229.1:g.25609G>C, NM_003264.5:c.1990G>A, NM_003264.5:c.1990G>C, NM_003264.4:c.1990G>A, NM_003264.4:c.1990G>C, NM_003264.3:c.1990G>A, NM_003264.3:c.1990G>C, NM_001318787.2:c.1990G>A, NM_001318787.2:c.1990G>C, NM_001318787.1:c.1990G>A, NM_001318787.1:c.1990G>C, NM_001318789.2:c.1990G>A, NM_001318789.2:c.1990G>C, NM_001318789.1:c.1990G>A, NM_001318789.1:c.1990G>C, NM_001318790.2:c.1990G>A, NM_001318790.2:c.1990G>C, NM_001318790.1:c.1990G>A, NM_001318790.1:c.1990G>C, NM_001318791.2:c.1990G>A, NM_001318791.2:c.1990G>C, NM_001318791.1:c.1990G>A, NM_001318791.1:c.1990G>C, NM_001318793.2:c.1990G>A, NM_001318793.2:c.1990G>C, NM_001318793.1:c.1990G>A, NM_001318793.1:c.1990G>C, NM_001318795.2:c.1990G>A, NM_001318795.2:c.1990G>C, NM_001318795.1:c.1990G>A, NM_001318795.1:c.1990G>C, NM_001318796.2:c.1990G>A, NM_001318796.2:c.1990G>C, NM_001318796.1:c.1990G>A, NM_001318796.1:c.1990G>C, XM_011532215.3:c.1990G>A, XM_011532215.3:c.1990G>C, XM_011532215.2:c.1990G>A, XM_011532215.2:c.1990G>C, XM_011532215.1:c.1990G>A, XM_011532215.1:c.1990G>C, XM_011532216.3:c.1990G>A, XM_011532216.3:c.1990G>C, XM_011532216.2:c.1990G>A, XM_011532216.2:c.1990G>C, XM_011532216.1:c.1990G>A, XM_011532216.1:c.1990G>C, XM_017008573.2:c.1990G>A, XM_017008573.2:c.1990G>C, XM_017008573.1:c.1990G>A, XM_017008573.1:c.1990G>C, XM_017008575.2:c.1990G>A, XM_017008575.2:c.1990G>C, XM_017008575.1:c.1990G>A, XM_017008575.1:c.1990G>C, XM_047416111.1:c.1990G>A, XM_047416111.1:c.1990G>C, XM_047416113.1:c.1990G>A, XM_047416113.1:c.1990G>C, XM_047416112.1:c.1990G>A, XM_047416112.1:c.1990G>C, XM_047416114.1:c.1990G>A, XM_047416114.1:c.1990G>C, NP_003255.2:p.Glu664Lys, NP_003255.2:p.Glu664Gln, NP_001305716.1:p.Glu664Lys, NP_001305716.1:p.Glu664Gln, NP_001305718.1:p.Glu664Lys, NP_001305718.1:p.Glu664Gln, NP_001305719.1:p.Glu664Lys, NP_001305719.1:p.Glu664Gln, NP_001305720.1:p.Glu664Lys, NP_001305720.1:p.Glu664Gln, NP_001305722.1:p.Glu664Lys, NP_001305722.1:p.Glu664Gln, NP_001305724.1:p.Glu664Lys, NP_001305724.1:p.Glu664Gln, NP_001305725.1:p.Glu664Lys, NP_001305725.1:p.Glu664Gln, XP_011530517.1:p.Glu664Lys, XP_011530517.1:p.Glu664Gln, XP_011530518.1:p.Glu664Lys, XP_011530518.1:p.Glu664Gln, XP_016864062.1:p.Glu664Lys, XP_016864062.1:p.Glu664Gln, XP_016864064.1:p.Glu664Lys, XP_016864064.1:p.Glu664Gln, XP_047272067.1:p.Glu664Lys, XP_047272067.1:p.Glu664Gln, XP_047272069.1:p.Glu664Lys, XP_047272069.1:p.Glu664Gln, XP_047272068.1:p.Glu664Lys, XP_047272068.1:p.Glu664Gln, XP_047272070.1:p.Glu664Lys, XP_047272070.1:p.Glu664Gln

                                      19.

                                      rs1471322843 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        4:153703018 (GRCh38)
                                        4:154624170 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:153703017:G:A
                                        Gene:
                                        TLR2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.153703018G>A, NC_000004.11:g.154624170G>A, NG_016229.1:g.23730G>A, NM_003264.5:c.111G>A, NM_003264.4:c.111G>A, NM_003264.3:c.111G>A, NM_001318787.2:c.111G>A, NM_001318787.1:c.111G>A, NM_001318789.2:c.111G>A, NM_001318789.1:c.111G>A, NM_001318790.2:c.111G>A, NM_001318790.1:c.111G>A, NM_001318791.2:c.111G>A, NM_001318791.1:c.111G>A, NM_001318793.2:c.111G>A, NM_001318793.1:c.111G>A, NM_001318795.2:c.111G>A, NM_001318795.1:c.111G>A, NM_001318796.2:c.111G>A, NM_001318796.1:c.111G>A, XM_011532215.3:c.111G>A, XM_011532215.2:c.111G>A, XM_011532215.1:c.111G>A, XM_011532216.3:c.111G>A, XM_011532216.2:c.111G>A, XM_011532216.1:c.111G>A, XM_017008573.2:c.111G>A, XM_017008573.1:c.111G>A, XM_017008575.2:c.111G>A, XM_017008575.1:c.111G>A, XM_047416111.1:c.111G>A, XM_047416113.1:c.111G>A, XM_047416112.1:c.111G>A, XM_047416114.1:c.111G>A

                                        20.

                                        rs1470885208 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:153703704 (GRCh38)
                                          4:154624856 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:153703703:T:C
                                          Gene:
                                          TLR2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000004.12:g.153703704T>C, NC_000004.11:g.154624856T>C, NG_016229.1:g.24416T>C, NM_003264.5:c.797T>C, NM_003264.4:c.797T>C, NM_003264.3:c.797T>C, NM_001318787.2:c.797T>C, NM_001318787.1:c.797T>C, NM_001318789.2:c.797T>C, NM_001318789.1:c.797T>C, NM_001318790.2:c.797T>C, NM_001318790.1:c.797T>C, NM_001318791.2:c.797T>C, NM_001318791.1:c.797T>C, NM_001318793.2:c.797T>C, NM_001318793.1:c.797T>C, NM_001318795.2:c.797T>C, NM_001318795.1:c.797T>C, NM_001318796.2:c.797T>C, NM_001318796.1:c.797T>C, XM_011532215.3:c.797T>C, XM_011532215.2:c.797T>C, XM_011532215.1:c.797T>C, XM_011532216.3:c.797T>C, XM_011532216.2:c.797T>C, XM_011532216.1:c.797T>C, XM_017008573.2:c.797T>C, XM_017008573.1:c.797T>C, XM_017008575.2:c.797T>C, XM_017008575.1:c.797T>C, XM_047416111.1:c.797T>C, XM_047416113.1:c.797T>C, XM_047416112.1:c.797T>C, XM_047416114.1:c.797T>C, NP_003255.2:p.Leu266Ser, NP_001305716.1:p.Leu266Ser, NP_001305718.1:p.Leu266Ser, NP_001305719.1:p.Leu266Ser, NP_001305720.1:p.Leu266Ser, NP_001305722.1:p.Leu266Ser, NP_001305724.1:p.Leu266Ser, NP_001305725.1:p.Leu266Ser, XP_011530517.1:p.Leu266Ser, XP_011530518.1:p.Leu266Ser, XP_016864062.1:p.Leu266Ser, XP_016864064.1:p.Leu266Ser, XP_047272067.1:p.Leu266Ser, XP_047272069.1:p.Leu266Ser, XP_047272068.1:p.Leu266Ser, XP_047272070.1:p.Leu266Ser

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