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Items: 1 to 20 of 816

1.

rs1490051823 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:38798220 (GRCh38)
    4:38799841 (GRCh37)
    Canonical SPDI:
    NC_000004.12:38798219:A:G
    Gene:
    TLR1 (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_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.38798220A>G, NC_000004.11:g.38799841A>G, NG_016228.1:g.11572T>C, NM_003263.4:c.612T>C, NM_003263.3:c.612T>C, XM_005262662.6:c.612T>C, XM_005262662.5:c.612T>C, XM_005262662.4:c.612T>C, XM_005262662.3:c.612T>C, XM_005262662.2:c.612T>C, XM_005262662.1:c.612T>C, XM_011513742.4:c.612T>C, XM_011513742.3:c.612T>C, XM_011513742.2:c.612T>C, XM_011513742.1:c.612T>C, XM_011513745.4:c.612T>C, XM_011513745.3:c.612T>C, XM_011513745.2:c.612T>C, XM_011513745.1:c.612T>C, XR_925165.3:n.886T>C, XR_925165.2:n.886T>C, XR_925165.1:n.886T>C, XR_925163.3:n.886T>C, XR_925163.2:n.886T>C, XR_925163.1:n.886T>C, XM_017008571.3:c.612T>C, XM_017008571.2:c.612T>C, XM_017008571.1:c.612T>C, XM_017008572.3:c.612T>C, XM_017008572.2:c.612T>C, XM_017008572.1:c.612T>C, XM_024454196.2:c.612T>C, XM_024454196.1:c.612T>C, XR_007057953.1:n.809T>C, XR_007057954.1:n.717T>C

    2.

    rs1488791937 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:38796679 (GRCh38)
      4:38798300 (GRCh37)
      Canonical SPDI:
      NC_000004.12:38796678:A:G
      Gene:
      TLR1 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.38796679A>G, NC_000004.11:g.38798300A>G, NG_016228.1:g.13113T>C, NM_003263.4:c.2153T>C, NM_003263.3:c.2153T>C, XM_005262662.6:c.2153T>C, XM_005262662.5:c.2153T>C, XM_005262662.4:c.2153T>C, XM_005262662.3:c.2153T>C, XM_005262662.2:c.2153T>C, XM_005262662.1:c.2153T>C, XM_011513742.4:c.2153T>C, XM_011513742.3:c.2153T>C, XM_011513742.2:c.2153T>C, XM_011513742.1:c.2153T>C, XM_011513745.4:c.2153T>C, XM_011513745.3:c.2153T>C, XM_011513745.2:c.2153T>C, XM_011513745.1:c.2153T>C, XR_925165.3:n.2427T>C, XR_925165.2:n.2427T>C, XR_925165.1:n.2427T>C, XR_925163.3:n.2427T>C, XR_925163.2:n.2427T>C, XR_925163.1:n.2427T>C, XM_017008571.3:c.2153T>C, XM_017008571.2:c.2153T>C, XM_017008571.1:c.2153T>C, XM_017008572.3:c.2153T>C, XM_017008572.2:c.2153T>C, XM_017008572.1:c.2153T>C, XM_024454196.2:c.2153T>C, XM_024454196.1:c.2153T>C, XR_007057953.1:n.2350T>C, XR_007057954.1:n.2258T>C, NP_003254.2:p.Leu718Pro, XP_005262719.1:p.Leu718Pro, XP_011512044.1:p.Leu718Pro, XP_011512047.1:p.Leu718Pro, XP_016864060.1:p.Leu718Pro, XP_016864061.1:p.Leu718Pro, XP_024309964.1:p.Leu718Pro

      3.

      rs1488787922 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        4:38796964 (GRCh38)
        4:38798585 (GRCh37)
        Canonical SPDI:
        NC_000004.12:38796963:G:T
        Gene:
        TLR1 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000004.12:g.38796964G>T, NC_000004.11:g.38798585G>T, NG_016228.1:g.12828C>A, NM_003263.4:c.1868C>A, NM_003263.3:c.1868C>A, XM_005262662.6:c.1868C>A, XM_005262662.5:c.1868C>A, XM_005262662.4:c.1868C>A, XM_005262662.3:c.1868C>A, XM_005262662.2:c.1868C>A, XM_005262662.1:c.1868C>A, XM_011513742.4:c.1868C>A, XM_011513742.3:c.1868C>A, XM_011513742.2:c.1868C>A, XM_011513742.1:c.1868C>A, XM_011513745.4:c.1868C>A, XM_011513745.3:c.1868C>A, XM_011513745.2:c.1868C>A, XM_011513745.1:c.1868C>A, XR_925165.3:n.2142C>A, XR_925165.2:n.2142C>A, XR_925165.1:n.2142C>A, XR_925163.3:n.2142C>A, XR_925163.2:n.2142C>A, XR_925163.1:n.2142C>A, XM_017008571.3:c.1868C>A, XM_017008571.2:c.1868C>A, XM_017008571.1:c.1868C>A, XM_017008572.3:c.1868C>A, XM_017008572.2:c.1868C>A, XM_017008572.1:c.1868C>A, XM_024454196.2:c.1868C>A, XM_024454196.1:c.1868C>A, XR_007057953.1:n.2065C>A, XR_007057954.1:n.1973C>A, NP_003254.2:p.Ala623Asp, XP_005262719.1:p.Ala623Asp, XP_011512044.1:p.Ala623Asp, XP_011512047.1:p.Ala623Asp, XP_016864060.1:p.Ala623Asp, XP_016864061.1:p.Ala623Asp, XP_024309964.1:p.Ala623Asp

        4.

        rs1487769212 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          4:38798813 (GRCh38)
          4:38800434 (GRCh37)
          Canonical SPDI:
          NC_000004.12:38798812:A:C
          Gene:
          TLR1 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.38798813A>C, NC_000004.11:g.38800434A>C, NG_016228.1:g.10979T>G, NM_003263.4:c.19T>G, NM_003263.3:c.19T>G, XM_005262662.6:c.19T>G, XM_005262662.5:c.19T>G, XM_005262662.4:c.19T>G, XM_005262662.3:c.19T>G, XM_005262662.2:c.19T>G, XM_005262662.1:c.19T>G, XM_011513742.4:c.19T>G, XM_011513742.3:c.19T>G, XM_011513742.2:c.19T>G, XM_011513742.1:c.19T>G, XM_011513745.4:c.19T>G, XM_011513745.3:c.19T>G, XM_011513745.2:c.19T>G, XM_011513745.1:c.19T>G, XR_925165.3:n.293T>G, XR_925165.2:n.293T>G, XR_925165.1:n.293T>G, XR_925163.3:n.293T>G, XR_925163.2:n.293T>G, XR_925163.1:n.293T>G, XM_017008571.3:c.19T>G, XM_017008571.2:c.19T>G, XM_017008571.1:c.19T>G, XM_017008572.3:c.19T>G, XM_017008572.2:c.19T>G, XM_017008572.1:c.19T>G, XM_024454196.2:c.19T>G, XM_024454196.1:c.19T>G, XR_007057953.1:n.216T>G, XR_007057954.1:n.124T>G, NP_003254.2:p.Phe7Val, XP_005262719.1:p.Phe7Val, XP_011512044.1:p.Phe7Val, XP_011512047.1:p.Phe7Val, XP_016864060.1:p.Phe7Val, XP_016864061.1:p.Phe7Val, XP_024309964.1:p.Phe7Val

          5.

          rs1486210434 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            4:38798821 (GRCh38)
            4:38800442 (GRCh37)
            Canonical SPDI:
            NC_000004.12:38798820:A:G
            Gene:
            TLR1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000004.12:g.38798821A>G, NC_000004.11:g.38800442A>G, NG_016228.1:g.10971T>C, NM_003263.4:c.11T>C, NM_003263.3:c.11T>C, XM_005262662.6:c.11T>C, XM_005262662.5:c.11T>C, XM_005262662.4:c.11T>C, XM_005262662.3:c.11T>C, XM_005262662.2:c.11T>C, XM_005262662.1:c.11T>C, XM_011513742.4:c.11T>C, XM_011513742.3:c.11T>C, XM_011513742.2:c.11T>C, XM_011513742.1:c.11T>C, XM_011513745.4:c.11T>C, XM_011513745.3:c.11T>C, XM_011513745.2:c.11T>C, XM_011513745.1:c.11T>C, XR_925165.3:n.285T>C, XR_925165.2:n.285T>C, XR_925165.1:n.285T>C, XR_925163.3:n.285T>C, XR_925163.2:n.285T>C, XR_925163.1:n.285T>C, XM_017008571.3:c.11T>C, XM_017008571.2:c.11T>C, XM_017008571.1:c.11T>C, XM_017008572.3:c.11T>C, XM_017008572.2:c.11T>C, XM_017008572.1:c.11T>C, XM_024454196.2:c.11T>C, XM_024454196.1:c.11T>C, XR_007057953.1:n.208T>C, XR_007057954.1:n.116T>C, NP_003254.2:p.Ile4Thr, XP_005262719.1:p.Ile4Thr, XP_011512044.1:p.Ile4Thr, XP_011512047.1:p.Ile4Thr, XP_016864060.1:p.Ile4Thr, XP_016864061.1:p.Ile4Thr, XP_024309964.1:p.Ile4Thr

            6.

            rs1484023004 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              4:38796533 (GRCh38)
              4:38798154 (GRCh37)
              Canonical SPDI:
              NC_000004.12:38796532:G:C
              Gene:
              TLR1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.38796533G>C, NC_000004.11:g.38798154G>C, NG_016228.1:g.13259C>G, NM_003263.4:c.2299C>G, NM_003263.3:c.2299C>G, XM_005262662.6:c.2299C>G, XM_005262662.5:c.2299C>G, XM_005262662.4:c.2299C>G, XM_005262662.3:c.2299C>G, XM_005262662.2:c.2299C>G, XM_005262662.1:c.2299C>G, XM_011513742.4:c.2299C>G, XM_011513742.3:c.2299C>G, XM_011513742.2:c.2299C>G, XM_011513742.1:c.2299C>G, XM_011513745.4:c.2299C>G, XM_011513745.3:c.2299C>G, XM_011513745.2:c.2299C>G, XM_011513745.1:c.2299C>G, XR_925165.3:n.2573C>G, XR_925165.2:n.2573C>G, XR_925165.1:n.2573C>G, XR_925163.3:n.2573C>G, XR_925163.2:n.2573C>G, XR_925163.1:n.2573C>G, XM_017008571.3:c.2299C>G, XM_017008571.2:c.2299C>G, XM_017008571.1:c.2299C>G, XM_017008572.3:c.2299C>G, XM_017008572.2:c.2299C>G, XM_017008572.1:c.2299C>G, XM_024454196.2:c.2299C>G, XM_024454196.1:c.2299C>G, XR_007057953.1:n.2496C>G, XR_007057954.1:n.2404C>G, NP_003254.2:p.Leu767Val, XP_005262719.1:p.Leu767Val, XP_011512044.1:p.Leu767Val, XP_011512047.1:p.Leu767Val, XP_016864060.1:p.Leu767Val, XP_016864061.1:p.Leu767Val, XP_024309964.1:p.Leu767Val

              7.

              rs1481904176 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                4:38798369 (GRCh38)
                4:38799990 (GRCh37)
                Canonical SPDI:
                NC_000004.12:38798368:T:G
                Gene:
                TLR1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000111/1 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.38798369T>G, NC_000004.11:g.38799990T>G, NG_016228.1:g.11423A>C, NM_003263.4:c.463A>C, NM_003263.3:c.463A>C, XM_005262662.6:c.463A>C, XM_005262662.5:c.463A>C, XM_005262662.4:c.463A>C, XM_005262662.3:c.463A>C, XM_005262662.2:c.463A>C, XM_005262662.1:c.463A>C, XM_011513742.4:c.463A>C, XM_011513742.3:c.463A>C, XM_011513742.2:c.463A>C, XM_011513742.1:c.463A>C, XM_011513745.4:c.463A>C, XM_011513745.3:c.463A>C, XM_011513745.2:c.463A>C, XM_011513745.1:c.463A>C, XR_925165.3:n.737A>C, XR_925165.2:n.737A>C, XR_925165.1:n.737A>C, XR_925163.3:n.737A>C, XR_925163.2:n.737A>C, XR_925163.1:n.737A>C, XM_017008571.3:c.463A>C, XM_017008571.2:c.463A>C, XM_017008571.1:c.463A>C, XM_017008572.3:c.463A>C, XM_017008572.2:c.463A>C, XM_017008572.1:c.463A>C, XM_024454196.2:c.463A>C, XM_024454196.1:c.463A>C, XR_007057953.1:n.660A>C, XR_007057954.1:n.568A>C, NP_003254.2:p.Ser155Arg, XP_005262719.1:p.Ser155Arg, XP_011512044.1:p.Ser155Arg, XP_011512047.1:p.Ser155Arg, XP_016864060.1:p.Ser155Arg, XP_016864061.1:p.Ser155Arg, XP_024309964.1:p.Ser155Arg

                8.

                rs1481800597 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  4:38797664 (GRCh38)
                  4:38799285 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:38797663:T:C
                  Gene:
                  TLR1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  C=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.38797664T>C, NC_000004.11:g.38799285T>C, NG_016228.1:g.12128A>G, NM_003263.4:c.1168A>G, NM_003263.3:c.1168A>G, XM_005262662.6:c.1168A>G, XM_005262662.5:c.1168A>G, XM_005262662.4:c.1168A>G, XM_005262662.3:c.1168A>G, XM_005262662.2:c.1168A>G, XM_005262662.1:c.1168A>G, XM_011513742.4:c.1168A>G, XM_011513742.3:c.1168A>G, XM_011513742.2:c.1168A>G, XM_011513742.1:c.1168A>G, XM_011513745.4:c.1168A>G, XM_011513745.3:c.1168A>G, XM_011513745.2:c.1168A>G, XM_011513745.1:c.1168A>G, XR_925165.3:n.1442A>G, XR_925165.2:n.1442A>G, XR_925165.1:n.1442A>G, XR_925163.3:n.1442A>G, XR_925163.2:n.1442A>G, XR_925163.1:n.1442A>G, XM_017008571.3:c.1168A>G, XM_017008571.2:c.1168A>G, XM_017008571.1:c.1168A>G, XM_017008572.3:c.1168A>G, XM_017008572.2:c.1168A>G, XM_017008572.1:c.1168A>G, XM_024454196.2:c.1168A>G, XM_024454196.1:c.1168A>G, XR_007057953.1:n.1365A>G, XR_007057954.1:n.1273A>G, NP_003254.2:p.Ile390Val, XP_005262719.1:p.Ile390Val, XP_011512044.1:p.Ile390Val, XP_011512047.1:p.Ile390Val, XP_016864060.1:p.Ile390Val, XP_016864061.1:p.Ile390Val, XP_024309964.1:p.Ile390Val

                  9.

                  rs1479976662 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    4:38797616 (GRCh38)
                    4:38799237 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:38797615:T:C
                    Gene:
                    TLR1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.38797616T>C, NC_000004.11:g.38799237T>C, NG_016228.1:g.12176A>G, NM_003263.4:c.1216A>G, NM_003263.3:c.1216A>G, XM_005262662.6:c.1216A>G, XM_005262662.5:c.1216A>G, XM_005262662.4:c.1216A>G, XM_005262662.3:c.1216A>G, XM_005262662.2:c.1216A>G, XM_005262662.1:c.1216A>G, XM_011513742.4:c.1216A>G, XM_011513742.3:c.1216A>G, XM_011513742.2:c.1216A>G, XM_011513742.1:c.1216A>G, XM_011513745.4:c.1216A>G, XM_011513745.3:c.1216A>G, XM_011513745.2:c.1216A>G, XM_011513745.1:c.1216A>G, XR_925165.3:n.1490A>G, XR_925165.2:n.1490A>G, XR_925165.1:n.1490A>G, XR_925163.3:n.1490A>G, XR_925163.2:n.1490A>G, XR_925163.1:n.1490A>G, XM_017008571.3:c.1216A>G, XM_017008571.2:c.1216A>G, XM_017008571.1:c.1216A>G, XM_017008572.3:c.1216A>G, XM_017008572.2:c.1216A>G, XM_017008572.1:c.1216A>G, XM_024454196.2:c.1216A>G, XM_024454196.1:c.1216A>G, XR_007057953.1:n.1413A>G, XR_007057954.1:n.1321A>G, NP_003254.2:p.Ser406Gly, XP_005262719.1:p.Ser406Gly, XP_011512044.1:p.Ser406Gly, XP_011512047.1:p.Ser406Gly, XP_016864060.1:p.Ser406Gly, XP_016864061.1:p.Ser406Gly, XP_024309964.1:p.Ser406Gly

                    10.

                    rs1477635923 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      4:38798389 (GRCh38)
                      4:38800010 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:38798388:G:C
                      Gene:
                      TLR1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000248/4 (TOMMO)
                      C=0.000342/1 (KOREAN)
                      C=0.000546/1 (Korea1K)
                      HGVS:
                      NC_000004.12:g.38798389G>C, NC_000004.11:g.38800010G>C, NG_016228.1:g.11403C>G, NM_003263.4:c.443C>G, NM_003263.3:c.443C>G, XM_005262662.6:c.443C>G, XM_005262662.5:c.443C>G, XM_005262662.4:c.443C>G, XM_005262662.3:c.443C>G, XM_005262662.2:c.443C>G, XM_005262662.1:c.443C>G, XM_011513742.4:c.443C>G, XM_011513742.3:c.443C>G, XM_011513742.2:c.443C>G, XM_011513742.1:c.443C>G, XM_011513745.4:c.443C>G, XM_011513745.3:c.443C>G, XM_011513745.2:c.443C>G, XM_011513745.1:c.443C>G, XR_925165.3:n.717C>G, XR_925165.2:n.717C>G, XR_925165.1:n.717C>G, XR_925163.3:n.717C>G, XR_925163.2:n.717C>G, XR_925163.1:n.717C>G, XM_017008571.3:c.443C>G, XM_017008571.2:c.443C>G, XM_017008571.1:c.443C>G, XM_017008572.3:c.443C>G, XM_017008572.2:c.443C>G, XM_017008572.1:c.443C>G, XM_024454196.2:c.443C>G, XM_024454196.1:c.443C>G, XR_007057953.1:n.640C>G, XR_007057954.1:n.548C>G, NP_003254.2:p.Thr148Ser, XP_005262719.1:p.Thr148Ser, XP_011512044.1:p.Thr148Ser, XP_011512047.1:p.Thr148Ser, XP_016864060.1:p.Thr148Ser, XP_016864061.1:p.Thr148Ser, XP_024309964.1:p.Thr148Ser

                      11.

                      rs1475011561 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        4:38796630 (GRCh38)
                        4:38798251 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:38796629:A:G
                        Gene:
                        TLR1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000224/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000004.12:g.38796630A>G, NC_000004.11:g.38798251A>G, NG_016228.1:g.13162T>C, NM_003263.4:c.2202T>C, NM_003263.3:c.2202T>C, XM_005262662.6:c.2202T>C, XM_005262662.5:c.2202T>C, XM_005262662.4:c.2202T>C, XM_005262662.3:c.2202T>C, XM_005262662.2:c.2202T>C, XM_005262662.1:c.2202T>C, XM_011513742.4:c.2202T>C, XM_011513742.3:c.2202T>C, XM_011513742.2:c.2202T>C, XM_011513742.1:c.2202T>C, XM_011513745.4:c.2202T>C, XM_011513745.3:c.2202T>C, XM_011513745.2:c.2202T>C, XM_011513745.1:c.2202T>C, XR_925165.3:n.2476T>C, XR_925165.2:n.2476T>C, XR_925165.1:n.2476T>C, XR_925163.3:n.2476T>C, XR_925163.2:n.2476T>C, XR_925163.1:n.2476T>C, XM_017008571.3:c.2202T>C, XM_017008571.2:c.2202T>C, XM_017008571.1:c.2202T>C, XM_017008572.3:c.2202T>C, XM_017008572.2:c.2202T>C, XM_017008572.1:c.2202T>C, XM_024454196.2:c.2202T>C, XM_024454196.1:c.2202T>C, XR_007057953.1:n.2399T>C, XR_007057954.1:n.2307T>C

                        12.

                        rs1472600322 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:38798549 (GRCh38)
                          4:38800170 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:38798548:A:G
                          Gene:
                          TLR1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000024/6 (GnomAD_exomes)
                          HGVS:
                          NC_000004.12:g.38798549A>G, NC_000004.11:g.38800170A>G, NG_016228.1:g.11243T>C, NM_003263.4:c.283T>C, NM_003263.3:c.283T>C, XM_005262662.6:c.283T>C, XM_005262662.5:c.283T>C, XM_005262662.4:c.283T>C, XM_005262662.3:c.283T>C, XM_005262662.2:c.283T>C, XM_005262662.1:c.283T>C, XM_011513742.4:c.283T>C, XM_011513742.3:c.283T>C, XM_011513742.2:c.283T>C, XM_011513742.1:c.283T>C, XM_011513745.4:c.283T>C, XM_011513745.3:c.283T>C, XM_011513745.2:c.283T>C, XM_011513745.1:c.283T>C, XR_925165.3:n.557T>C, XR_925165.2:n.557T>C, XR_925165.1:n.557T>C, XR_925163.3:n.557T>C, XR_925163.2:n.557T>C, XR_925163.1:n.557T>C, XM_017008571.3:c.283T>C, XM_017008571.2:c.283T>C, XM_017008571.1:c.283T>C, XM_017008572.3:c.283T>C, XM_017008572.2:c.283T>C, XM_017008572.1:c.283T>C, XM_024454196.2:c.283T>C, XM_024454196.1:c.283T>C, XR_007057953.1:n.480T>C, XR_007057954.1:n.388T>C

                          13.

                          rs1472120025 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:38798722 (GRCh38)
                            4:38800343 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:38798721:A:G
                            Gene:
                            TLR1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000004.12:g.38798722A>G, NC_000004.11:g.38800343A>G, NG_016228.1:g.11070T>C, NM_003263.4:c.110T>C, NM_003263.3:c.110T>C, XM_005262662.6:c.110T>C, XM_005262662.5:c.110T>C, XM_005262662.4:c.110T>C, XM_005262662.3:c.110T>C, XM_005262662.2:c.110T>C, XM_005262662.1:c.110T>C, XM_011513742.4:c.110T>C, XM_011513742.3:c.110T>C, XM_011513742.2:c.110T>C, XM_011513742.1:c.110T>C, XM_011513745.4:c.110T>C, XM_011513745.3:c.110T>C, XM_011513745.2:c.110T>C, XM_011513745.1:c.110T>C, XR_925165.3:n.384T>C, XR_925165.2:n.384T>C, XR_925165.1:n.384T>C, XR_925163.3:n.384T>C, XR_925163.2:n.384T>C, XR_925163.1:n.384T>C, XM_017008571.3:c.110T>C, XM_017008571.2:c.110T>C, XM_017008571.1:c.110T>C, XM_017008572.3:c.110T>C, XM_017008572.2:c.110T>C, XM_017008572.1:c.110T>C, XM_024454196.2:c.110T>C, XM_024454196.1:c.110T>C, XR_007057953.1:n.307T>C, XR_007057954.1:n.215T>C, NP_003254.2:p.Ile37Thr, XP_005262719.1:p.Ile37Thr, XP_011512044.1:p.Ile37Thr, XP_011512047.1:p.Ile37Thr, XP_016864060.1:p.Ile37Thr, XP_016864061.1:p.Ile37Thr, XP_024309964.1:p.Ile37Thr

                            14.

                            rs1471470569 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:38798312 (GRCh38)
                              4:38799933 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:38798311:T:C
                              Gene:
                              TLR1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.38798312T>C, NC_000004.11:g.38799933T>C, NG_016228.1:g.11480A>G, NM_003263.4:c.520A>G, NM_003263.3:c.520A>G, XM_005262662.6:c.520A>G, XM_005262662.5:c.520A>G, XM_005262662.4:c.520A>G, XM_005262662.3:c.520A>G, XM_005262662.2:c.520A>G, XM_005262662.1:c.520A>G, XM_011513742.4:c.520A>G, XM_011513742.3:c.520A>G, XM_011513742.2:c.520A>G, XM_011513742.1:c.520A>G, XM_011513745.4:c.520A>G, XM_011513745.3:c.520A>G, XM_011513745.2:c.520A>G, XM_011513745.1:c.520A>G, XR_925165.3:n.794A>G, XR_925165.2:n.794A>G, XR_925165.1:n.794A>G, XR_925163.3:n.794A>G, XR_925163.2:n.794A>G, XR_925163.1:n.794A>G, XM_017008571.3:c.520A>G, XM_017008571.2:c.520A>G, XM_017008571.1:c.520A>G, XM_017008572.3:c.520A>G, XM_017008572.2:c.520A>G, XM_017008572.1:c.520A>G, XM_024454196.2:c.520A>G, XM_024454196.1:c.520A>G, XR_007057953.1:n.717A>G, XR_007057954.1:n.625A>G, NP_003254.2:p.Thr174Ala, XP_005262719.1:p.Thr174Ala, XP_011512044.1:p.Thr174Ala, XP_011512047.1:p.Thr174Ala, XP_016864060.1:p.Thr174Ala, XP_016864061.1:p.Thr174Ala, XP_024309964.1:p.Thr174Ala

                              15.

                              rs1469381310 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                4:38797479 (GRCh38)
                                4:38799100 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:38797478:A:G,NC_000004.12:38797478:A:T
                                Gene:
                                TLR1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000028/1 (ALFA)
                                G=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000004.12:g.38797479A>G, NC_000004.12:g.38797479A>T, NC_000004.11:g.38799100A>G, NC_000004.11:g.38799100A>T, NG_016228.1:g.12313T>C, NG_016228.1:g.12313T>A, NM_003263.4:c.1353T>C, NM_003263.4:c.1353T>A, NM_003263.3:c.1353T>C, NM_003263.3:c.1353T>A, XM_005262662.6:c.1353T>C, XM_005262662.6:c.1353T>A, XM_005262662.5:c.1353T>C, XM_005262662.5:c.1353T>A, XM_005262662.4:c.1353T>C, XM_005262662.4:c.1353T>A, XM_005262662.3:c.1353T>C, XM_005262662.3:c.1353T>A, XM_005262662.2:c.1353T>C, XM_005262662.2:c.1353T>A, XM_005262662.1:c.1353T>C, XM_005262662.1:c.1353T>A, XM_011513742.4:c.1353T>C, XM_011513742.4:c.1353T>A, XM_011513742.3:c.1353T>C, XM_011513742.3:c.1353T>A, XM_011513742.2:c.1353T>C, XM_011513742.2:c.1353T>A, XM_011513742.1:c.1353T>C, XM_011513742.1:c.1353T>A, XM_011513745.4:c.1353T>C, XM_011513745.4:c.1353T>A, XM_011513745.3:c.1353T>C, XM_011513745.3:c.1353T>A, XM_011513745.2:c.1353T>C, XM_011513745.2:c.1353T>A, XM_011513745.1:c.1353T>C, XM_011513745.1:c.1353T>A, XR_925165.3:n.1627T>C, XR_925165.3:n.1627T>A, XR_925165.2:n.1627T>C, XR_925165.2:n.1627T>A, XR_925165.1:n.1627T>C, XR_925165.1:n.1627T>A, XR_925163.3:n.1627T>C, XR_925163.3:n.1627T>A, XR_925163.2:n.1627T>C, XR_925163.2:n.1627T>A, XR_925163.1:n.1627T>C, XR_925163.1:n.1627T>A, XM_017008571.3:c.1353T>C, XM_017008571.3:c.1353T>A, XM_017008571.2:c.1353T>C, XM_017008571.2:c.1353T>A, XM_017008571.1:c.1353T>C, XM_017008571.1:c.1353T>A, XM_017008572.3:c.1353T>C, XM_017008572.3:c.1353T>A, XM_017008572.2:c.1353T>C, XM_017008572.2:c.1353T>A, XM_017008572.1:c.1353T>C, XM_017008572.1:c.1353T>A, XM_024454196.2:c.1353T>C, XM_024454196.2:c.1353T>A, XM_024454196.1:c.1353T>C, XM_024454196.1:c.1353T>A, XR_007057953.1:n.1550T>C, XR_007057953.1:n.1550T>A, XR_007057954.1:n.1458T>C, XR_007057954.1:n.1458T>A, NP_003254.2:p.Asp451Glu, XP_005262719.1:p.Asp451Glu, XP_011512044.1:p.Asp451Glu, XP_011512047.1:p.Asp451Glu, XP_016864060.1:p.Asp451Glu, XP_016864061.1:p.Asp451Glu, XP_024309964.1:p.Asp451Glu

                                16.

                                rs1469020570 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  4:38796914 (GRCh38)
                                  4:38798535 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:38796913:A:T
                                  Gene:
                                  TLR1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000004.12:g.38796914A>T, NC_000004.11:g.38798535A>T, NG_016228.1:g.12878T>A, NM_003263.4:c.1918T>A, NM_003263.3:c.1918T>A, XM_005262662.6:c.1918T>A, XM_005262662.5:c.1918T>A, XM_005262662.4:c.1918T>A, XM_005262662.3:c.1918T>A, XM_005262662.2:c.1918T>A, XM_005262662.1:c.1918T>A, XM_011513742.4:c.1918T>A, XM_011513742.3:c.1918T>A, XM_011513742.2:c.1918T>A, XM_011513742.1:c.1918T>A, XM_011513745.4:c.1918T>A, XM_011513745.3:c.1918T>A, XM_011513745.2:c.1918T>A, XM_011513745.1:c.1918T>A, XR_925165.3:n.2192T>A, XR_925165.2:n.2192T>A, XR_925165.1:n.2192T>A, XR_925163.3:n.2192T>A, XR_925163.2:n.2192T>A, XR_925163.1:n.2192T>A, XM_017008571.3:c.1918T>A, XM_017008571.2:c.1918T>A, XM_017008571.1:c.1918T>A, XM_017008572.3:c.1918T>A, XM_017008572.2:c.1918T>A, XM_017008572.1:c.1918T>A, XM_024454196.2:c.1918T>A, XM_024454196.1:c.1918T>A, XR_007057953.1:n.2115T>A, XR_007057954.1:n.2023T>A, NP_003254.2:p.Phe640Ile, XP_005262719.1:p.Phe640Ile, XP_011512044.1:p.Phe640Ile, XP_011512047.1:p.Phe640Ile, XP_016864060.1:p.Phe640Ile, XP_016864061.1:p.Phe640Ile, XP_024309964.1:p.Phe640Ile

                                  17.

                                  rs1468031084 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    4:38798626 (GRCh38)
                                    4:38800247 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:38798625:G:C
                                    Gene:
                                    TLR1 (Varview)
                                    Functional Consequence:
                                    stop_gained,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000004.12:g.38798626G>C, NC_000004.11:g.38800247G>C, NG_016228.1:g.11166C>G, NM_003263.4:c.206C>G, NM_003263.3:c.206C>G, XM_005262662.6:c.206C>G, XM_005262662.5:c.206C>G, XM_005262662.4:c.206C>G, XM_005262662.3:c.206C>G, XM_005262662.2:c.206C>G, XM_005262662.1:c.206C>G, XM_011513742.4:c.206C>G, XM_011513742.3:c.206C>G, XM_011513742.2:c.206C>G, XM_011513742.1:c.206C>G, XM_011513745.4:c.206C>G, XM_011513745.3:c.206C>G, XM_011513745.2:c.206C>G, XM_011513745.1:c.206C>G, XR_925165.3:n.480C>G, XR_925165.2:n.480C>G, XR_925165.1:n.480C>G, XR_925163.3:n.480C>G, XR_925163.2:n.480C>G, XR_925163.1:n.480C>G, XM_017008571.3:c.206C>G, XM_017008571.2:c.206C>G, XM_017008571.1:c.206C>G, XM_017008572.3:c.206C>G, XM_017008572.2:c.206C>G, XM_017008572.1:c.206C>G, XM_024454196.2:c.206C>G, XM_024454196.1:c.206C>G, XR_007057953.1:n.403C>G, XR_007057954.1:n.311C>G, NP_003254.2:p.Ser69Ter, XP_005262719.1:p.Ser69Ter, XP_011512044.1:p.Ser69Ter, XP_011512047.1:p.Ser69Ter, XP_016864060.1:p.Ser69Ter, XP_016864061.1:p.Ser69Ter, XP_024309964.1:p.Ser69Ter

                                    18.

                                    rs1462461385 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      4:38798688 (GRCh38)
                                      4:38800309 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:38798687:T:G
                                      Gene:
                                      TLR1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000031/1 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.38798688T>G, NC_000004.11:g.38800309T>G, NG_016228.1:g.11104A>C, NM_003263.4:c.144A>C, NM_003263.3:c.144A>C, XM_005262662.6:c.144A>C, XM_005262662.5:c.144A>C, XM_005262662.4:c.144A>C, XM_005262662.3:c.144A>C, XM_005262662.2:c.144A>C, XM_005262662.1:c.144A>C, XM_011513742.4:c.144A>C, XM_011513742.3:c.144A>C, XM_011513742.2:c.144A>C, XM_011513742.1:c.144A>C, XM_011513745.4:c.144A>C, XM_011513745.3:c.144A>C, XM_011513745.2:c.144A>C, XM_011513745.1:c.144A>C, XR_925165.3:n.418A>C, XR_925165.2:n.418A>C, XR_925165.1:n.418A>C, XR_925163.3:n.418A>C, XR_925163.2:n.418A>C, XR_925163.1:n.418A>C, XM_017008571.3:c.144A>C, XM_017008571.2:c.144A>C, XM_017008571.1:c.144A>C, XM_017008572.3:c.144A>C, XM_017008572.2:c.144A>C, XM_017008572.1:c.144A>C, XM_024454196.2:c.144A>C, XM_024454196.1:c.144A>C, XR_007057953.1:n.341A>C, XR_007057954.1:n.249A>C

                                      19.

                                      rs1462101633 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:38797494 (GRCh38)
                                        4:38799115 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:38797493:C:T
                                        Gene:
                                        TLR1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000004.12:g.38797494C>T, NC_000004.11:g.38799115C>T, NG_016228.1:g.12298G>A, NM_003263.4:c.1338G>A, NM_003263.3:c.1338G>A, XM_005262662.6:c.1338G>A, XM_005262662.5:c.1338G>A, XM_005262662.4:c.1338G>A, XM_005262662.3:c.1338G>A, XM_005262662.2:c.1338G>A, XM_005262662.1:c.1338G>A, XM_011513742.4:c.1338G>A, XM_011513742.3:c.1338G>A, XM_011513742.2:c.1338G>A, XM_011513742.1:c.1338G>A, XM_011513745.4:c.1338G>A, XM_011513745.3:c.1338G>A, XM_011513745.2:c.1338G>A, XM_011513745.1:c.1338G>A, XR_925165.3:n.1612G>A, XR_925165.2:n.1612G>A, XR_925165.1:n.1612G>A, XR_925163.3:n.1612G>A, XR_925163.2:n.1612G>A, XR_925163.1:n.1612G>A, XM_017008571.3:c.1338G>A, XM_017008571.2:c.1338G>A, XM_017008571.1:c.1338G>A, XM_017008572.3:c.1338G>A, XM_017008572.2:c.1338G>A, XM_017008572.1:c.1338G>A, XM_024454196.2:c.1338G>A, XM_024454196.1:c.1338G>A, XR_007057953.1:n.1535G>A, XR_007057954.1:n.1443G>A

                                        20.

                                        rs1462025588 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->TCTGGCT [Show Flanks]
                                          Chromosome:
                                          4:38797608 (GRCh38)
                                          4:38799230 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:38797608:TTCTGGCT:TTCTGGCTTCTGGCT
                                          Gene:
                                          TLR1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTCTGGCTTCTGGCT=0.000169/2 (ALFA)
                                          TTCTGGC=0.000026/7 (TOPMED)
                                          TTCTGGC=0.000036/5 (GnomAD)
                                          HGVS:
                                          NC_000004.12:g.38797610_38797616dup, NC_000004.11:g.38799231_38799237dup, NG_016228.1:g.12177_12183dup, NM_003263.4:c.1217_1223dup, NM_003263.3:c.1217_1223dup, XM_005262662.6:c.1217_1223dup, XM_005262662.5:c.1217_1223dup, XM_005262662.4:c.1217_1223dup, XM_005262662.3:c.1217_1223dup, XM_005262662.2:c.1217_1223dup, XM_005262662.1:c.1217_1223dup, XM_011513742.4:c.1217_1223dup, XM_011513742.3:c.1217_1223dup, XM_011513742.2:c.1217_1223dup, XM_011513742.1:c.1217_1223dup, XM_011513745.4:c.1217_1223dup, XM_011513745.3:c.1217_1223dup, XM_011513745.2:c.1217_1223dup, XM_011513745.1:c.1217_1223dup, XR_925165.3:n.1491_1497dup, XR_925165.2:n.1491_1497dup, XR_925165.1:n.1491_1497dup, XR_925163.3:n.1491_1497dup, XR_925163.2:n.1491_1497dup, XR_925163.1:n.1491_1497dup, XM_017008571.3:c.1217_1223dup, XM_017008571.2:c.1217_1223dup, XM_017008571.1:c.1217_1223dup, XM_017008572.3:c.1217_1223dup, XM_017008572.2:c.1217_1223dup, XM_017008572.1:c.1217_1223dup, XM_024454196.2:c.1217_1223dup, XM_024454196.1:c.1217_1223dup, XR_007057953.1:n.1414_1420dup, XR_007057954.1:n.1322_1328dup, NP_003254.2:p.Asn408fs, XP_005262719.1:p.Asn408fs, XP_011512044.1:p.Asn408fs, XP_011512047.1:p.Asn408fs, XP_016864060.1:p.Asn408fs, XP_016864061.1:p.Asn408fs, XP_024309964.1:p.Asn408fs

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