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Items: 1 to 20 of 312

1.

rs1489557944 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:43773023 (GRCh38)
    12:44166826 (GRCh37)
    Canonical SPDI:
    NC_000012.12:43773022:A:G
    Gene:
    IRAK4 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.43773023A>G, NC_000012.11:g.44166826A>G, NG_009892.1:g.19080A>G, NM_016123.4:c.602A>G, NM_016123.3:c.602A>G, NM_001114182.3:c.602A>G, NM_001114182.2:c.602A>G, NM_001351338.2:c.230A>G, NM_001351338.1:c.230A>G, NM_001351341.2:c.230A>G, NM_001351341.1:c.230A>G, NM_001351345.2:c.602A>G, NM_001351345.1:c.602A>G, NM_001351339.2:c.230A>G, NM_001351339.1:c.230A>G, NM_001351340.2:c.230A>G, NM_001351340.1:c.230A>G, NM_001145256.2:c.230A>G, NM_001145256.1:c.230A>G, NM_001351342.2:c.230A>G, NM_001351342.1:c.230A>G, NM_001145257.2:c.230A>G, NM_001145257.1:c.230A>G, NM_001145258.2:c.230A>G, NM_001145258.1:c.230A>G, XM_005268944.5:c.602A>G, XM_005268944.4:c.602A>G, XM_005268944.3:c.602A>G, XM_005268944.2:c.602A>G, XM_005268944.1:c.602A>G, XM_005268945.5:c.602A>G, XM_005268945.4:c.602A>G, XM_005268945.3:c.602A>G, XM_005268945.2:c.602A>G, XM_005268945.1:c.602A>G, XM_006719438.4:c.602A>G, XM_006719438.3:c.602A>G, XM_006719438.2:c.602A>G, XM_006719438.1:c.602A>G, XM_005268943.4:c.602A>G, XM_005268943.3:c.602A>G, XM_005268943.2:c.602A>G, XM_005268943.1:c.602A>G, XM_011538431.3:c.602A>G, XM_011538431.2:c.602A>G, XM_011538431.1:c.602A>G, XM_017019390.3:c.602A>G, XM_017019390.2:c.602A>G, XM_017019390.1:c.602A>G, NP_057207.2:p.Tyr201Cys, NP_001107654.1:p.Tyr201Cys, NP_001338267.1:p.Tyr77Cys, NP_001338270.1:p.Tyr77Cys, NP_001338274.1:p.Tyr201Cys, NP_001338268.1:p.Tyr77Cys, NP_001338269.1:p.Tyr77Cys, NP_001138728.1:p.Tyr77Cys, NP_001338271.1:p.Tyr77Cys, NP_001138729.1:p.Tyr77Cys, NP_001138730.1:p.Tyr77Cys, XP_005269001.1:p.Tyr201Cys, XP_005269002.1:p.Tyr201Cys, XP_006719501.1:p.Tyr201Cys, XP_005269000.1:p.Tyr201Cys, XP_011536733.1:p.Tyr201Cys, XP_016874879.1:p.Tyr201Cys

    2.

    rs1487085539 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:43782321 (GRCh38)
      12:44176124 (GRCh37)
      Canonical SPDI:
      NC_000012.12:43782320:T:C
      Gene:
      IRAK4 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000015/4 (TOPMED)
      HGVS:
      NC_000012.12:g.43782321T>C, NC_000012.11:g.44176124T>C, NG_009892.1:g.28378T>C, NM_016123.4:c.956T>C, NM_016123.3:c.956T>C, NM_001114182.3:c.956T>C, NM_001114182.2:c.956T>C, NM_001351338.2:c.584T>C, NM_001351338.1:c.584T>C, NM_001351341.2:c.584T>C, NM_001351341.1:c.584T>C, NM_001351345.2:c.956T>C, NM_001351345.1:c.956T>C, NM_001351339.2:c.584T>C, NM_001351339.1:c.584T>C, NM_001351340.2:c.584T>C, NM_001351340.1:c.584T>C, NM_001351343.2:c.347T>C, NM_001351343.1:c.347T>C, NM_001145256.2:c.584T>C, NM_001145256.1:c.584T>C, NM_001351342.2:c.584T>C, NM_001351342.1:c.584T>C, NM_001145257.2:c.584T>C, NM_001145257.1:c.584T>C, NM_001351344.2:c.347T>C, NM_001351344.1:c.347T>C, NM_001145258.2:c.584T>C, NM_001145258.1:c.584T>C, XM_005268944.5:c.956T>C, XM_005268944.4:c.956T>C, XM_005268944.3:c.956T>C, XM_005268944.2:c.956T>C, XM_005268944.1:c.956T>C, XM_005268945.5:c.956T>C, XM_005268945.4:c.956T>C, XM_005268945.3:c.956T>C, XM_005268945.2:c.956T>C, XM_005268945.1:c.956T>C, XM_006719438.4:c.956T>C, XM_006719438.3:c.956T>C, XM_006719438.2:c.956T>C, XM_006719438.1:c.956T>C, XM_005268943.4:c.956T>C, XM_005268943.3:c.956T>C, XM_005268943.2:c.956T>C, XM_005268943.1:c.956T>C, XM_011538431.3:c.956T>C, XM_011538431.2:c.956T>C, XM_011538431.1:c.956T>C, XM_017019390.3:c.956T>C, XM_017019390.2:c.956T>C, XM_017019390.1:c.956T>C, NP_057207.2:p.Leu319Pro, NP_001107654.1:p.Leu319Pro, NP_001338267.1:p.Leu195Pro, NP_001338270.1:p.Leu195Pro, NP_001338274.1:p.Leu319Pro, NP_001338268.1:p.Leu195Pro, NP_001338269.1:p.Leu195Pro, NP_001338272.1:p.Leu116Pro, NP_001138728.1:p.Leu195Pro, NP_001338271.1:p.Leu195Pro, NP_001138729.1:p.Leu195Pro, NP_001338273.1:p.Leu116Pro, NP_001138730.1:p.Leu195Pro, XP_005269001.1:p.Leu319Pro, XP_005269002.1:p.Leu319Pro, XP_006719501.1:p.Leu319Pro, XP_005269000.1:p.Leu319Pro, XP_011536733.1:p.Leu319Pro, XP_016874879.1:p.Leu319Pro

      3.

      rs1485449123 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:43783663 (GRCh38)
        12:44177466 (GRCh37)
        Canonical SPDI:
        NC_000012.12:43783662:T:C
        Gene:
        IRAK4 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.43783663T>C, NC_000012.11:g.44177466T>C, NG_009892.1:g.29720T>C, NM_016123.4:c.1127T>C, NM_016123.3:c.1127T>C, NM_001114182.3:c.1127T>C, NM_001114182.2:c.1127T>C, NM_001351338.2:c.755T>C, NM_001351338.1:c.755T>C, NM_001351341.2:c.755T>C, NM_001351341.1:c.755T>C, NM_001351345.2:c.1127T>C, NM_001351345.1:c.1127T>C, NM_001351339.2:c.755T>C, NM_001351339.1:c.755T>C, NM_001351340.2:c.755T>C, NM_001351340.1:c.755T>C, NM_001351343.2:c.518T>C, NM_001351343.1:c.518T>C, NM_001145256.2:c.755T>C, NM_001145256.1:c.755T>C, NM_001351342.2:c.755T>C, NM_001351342.1:c.755T>C, NM_001145257.2:c.755T>C, NM_001145257.1:c.755T>C, NM_001351344.2:c.518T>C, NM_001351344.1:c.518T>C, NM_001145258.2:c.755T>C, NM_001145258.1:c.755T>C, XM_005268944.5:c.1127T>C, XM_005268944.4:c.1127T>C, XM_005268944.3:c.1127T>C, XM_005268944.2:c.1127T>C, XM_005268944.1:c.1127T>C, XM_005268945.5:c.1127T>C, XM_005268945.4:c.1127T>C, XM_005268945.3:c.1127T>C, XM_005268945.2:c.1127T>C, XM_005268945.1:c.1127T>C, XM_006719438.4:c.1127T>C, XM_006719438.3:c.1127T>C, XM_006719438.2:c.1127T>C, XM_006719438.1:c.1127T>C, XM_005268943.4:c.1127T>C, XM_005268943.3:c.1127T>C, XM_005268943.2:c.1127T>C, XM_005268943.1:c.1127T>C, XM_011538431.3:c.1127T>C, XM_011538431.2:c.1127T>C, XM_011538431.1:c.1127T>C, XM_017019390.3:c.1127T>C, XM_017019390.2:c.1127T>C, XM_017019390.1:c.1127T>C, NP_057207.2:p.Val376Ala, NP_001107654.1:p.Val376Ala, NP_001338267.1:p.Val252Ala, NP_001338270.1:p.Val252Ala, NP_001338274.1:p.Val376Ala, NP_001338268.1:p.Val252Ala, NP_001338269.1:p.Val252Ala, NP_001338272.1:p.Val173Ala, NP_001138728.1:p.Val252Ala, NP_001338271.1:p.Val252Ala, NP_001138729.1:p.Val252Ala, NP_001338273.1:p.Val173Ala, NP_001138730.1:p.Val252Ala, XP_005269001.1:p.Val376Ala, XP_005269002.1:p.Val376Ala, XP_006719501.1:p.Val376Ala, XP_005269000.1:p.Val376Ala, XP_011536733.1:p.Val376Ala, XP_016874879.1:p.Val376Ala

        4.

        rs1479039044 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          12:43772934 (GRCh38)
          12:44166737 (GRCh37)
          Canonical SPDI:
          NC_000012.12:43772933:T:A
          Gene:
          IRAK4 (Varview)
          Functional Consequence:
          coding_sequence_variant,stop_gained,5_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.43772934T>A, NC_000012.11:g.44166737T>A, NG_009892.1:g.18991T>A, NM_016123.4:c.513T>A, NM_016123.3:c.513T>A, NM_001114182.3:c.513T>A, NM_001114182.2:c.513T>A, NM_001351338.2:c.141T>A, NM_001351338.1:c.141T>A, NM_001351341.2:c.141T>A, NM_001351341.1:c.141T>A, NM_001351345.2:c.513T>A, NM_001351345.1:c.513T>A, NM_001351339.2:c.141T>A, NM_001351339.1:c.141T>A, NM_001351340.2:c.141T>A, NM_001351340.1:c.141T>A, NM_001351343.2:c.-11T>A, NM_001351343.1:c.-11T>A, NM_001145256.2:c.141T>A, NM_001145256.1:c.141T>A, NM_001351342.2:c.141T>A, NM_001351342.1:c.141T>A, NM_001145257.2:c.141T>A, NM_001145257.1:c.141T>A, NM_001351344.2:c.-11T>A, NM_001351344.1:c.-11T>A, NM_001145258.2:c.141T>A, NM_001145258.1:c.141T>A, XM_005268944.5:c.513T>A, XM_005268944.4:c.513T>A, XM_005268944.3:c.513T>A, XM_005268944.2:c.513T>A, XM_005268944.1:c.513T>A, XM_005268945.5:c.513T>A, XM_005268945.4:c.513T>A, XM_005268945.3:c.513T>A, XM_005268945.2:c.513T>A, XM_005268945.1:c.513T>A, XM_006719438.4:c.513T>A, XM_006719438.3:c.513T>A, XM_006719438.2:c.513T>A, XM_006719438.1:c.513T>A, XM_005268943.4:c.513T>A, XM_005268943.3:c.513T>A, XM_005268943.2:c.513T>A, XM_005268943.1:c.513T>A, XM_011538431.3:c.513T>A, XM_011538431.2:c.513T>A, XM_011538431.1:c.513T>A, XM_017019390.3:c.513T>A, XM_017019390.2:c.513T>A, XM_017019390.1:c.513T>A, NP_057207.2:p.Tyr171Ter, NP_001107654.1:p.Tyr171Ter, NP_001338267.1:p.Tyr47Ter, NP_001338270.1:p.Tyr47Ter, NP_001338274.1:p.Tyr171Ter, NP_001338268.1:p.Tyr47Ter, NP_001338269.1:p.Tyr47Ter, NP_001138728.1:p.Tyr47Ter, NP_001338271.1:p.Tyr47Ter, NP_001138729.1:p.Tyr47Ter, NP_001138730.1:p.Tyr47Ter, XP_005269001.1:p.Tyr171Ter, XP_005269002.1:p.Tyr171Ter, XP_006719501.1:p.Tyr171Ter, XP_005269000.1:p.Tyr171Ter, XP_011536733.1:p.Tyr171Ter, XP_016874879.1:p.Tyr171Ter

          5.

          rs1477897215 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            12:43773069 (GRCh38)
            12:44166872 (GRCh37)
            Canonical SPDI:
            NC_000012.12:43773068:A:C
            Gene:
            IRAK4 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_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_000012.12:g.43773069A>C, NC_000012.11:g.44166872A>C, NG_009892.1:g.19126A>C, NM_016123.4:c.648A>C, NM_016123.3:c.648A>C, NM_001114182.3:c.648A>C, NM_001114182.2:c.648A>C, NM_001351338.2:c.276A>C, NM_001351338.1:c.276A>C, NM_001351341.2:c.276A>C, NM_001351341.1:c.276A>C, NM_001351345.2:c.648A>C, NM_001351345.1:c.648A>C, NM_001351339.2:c.276A>C, NM_001351339.1:c.276A>C, NM_001351340.2:c.276A>C, NM_001351340.1:c.276A>C, NM_001145256.2:c.276A>C, NM_001145256.1:c.276A>C, NM_001351342.2:c.276A>C, NM_001351342.1:c.276A>C, NM_001145257.2:c.276A>C, NM_001145257.1:c.276A>C, NM_001145258.2:c.276A>C, NM_001145258.1:c.276A>C, XM_005268944.5:c.648A>C, XM_005268944.4:c.648A>C, XM_005268944.3:c.648A>C, XM_005268944.2:c.648A>C, XM_005268944.1:c.648A>C, XM_005268945.5:c.648A>C, XM_005268945.4:c.648A>C, XM_005268945.3:c.648A>C, XM_005268945.2:c.648A>C, XM_005268945.1:c.648A>C, XM_006719438.4:c.648A>C, XM_006719438.3:c.648A>C, XM_006719438.2:c.648A>C, XM_006719438.1:c.648A>C, XM_005268943.4:c.648A>C, XM_005268943.3:c.648A>C, XM_005268943.2:c.648A>C, XM_005268943.1:c.648A>C, XM_011538431.3:c.648A>C, XM_011538431.2:c.648A>C, XM_011538431.1:c.648A>C, XM_017019390.3:c.648A>C, XM_017019390.2:c.648A>C, XM_017019390.1:c.648A>C

            6.

            rs1475847048 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              12:43777630 (GRCh38)
              12:44171433 (GRCh37)
              Canonical SPDI:
              NC_000012.12:43777629:G:C
              Gene:
              IRAK4 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000012.12:g.43777630G>C, NC_000012.11:g.44171433G>C, NG_009892.1:g.23687G>C, NM_016123.4:c.717G>C, NM_016123.3:c.717G>C, NM_001114182.3:c.717G>C, NM_001114182.2:c.717G>C, NM_001351338.2:c.345G>C, NM_001351338.1:c.345G>C, NM_001351341.2:c.345G>C, NM_001351341.1:c.345G>C, NM_001351345.2:c.717G>C, NM_001351345.1:c.717G>C, NM_001351339.2:c.345G>C, NM_001351339.1:c.345G>C, NM_001351340.2:c.345G>C, NM_001351340.1:c.345G>C, NM_001351343.2:c.108G>C, NM_001351343.1:c.108G>C, NM_001145256.2:c.345G>C, NM_001145256.1:c.345G>C, NM_001351342.2:c.345G>C, NM_001351342.1:c.345G>C, NM_001145257.2:c.345G>C, NM_001145257.1:c.345G>C, NM_001351344.2:c.108G>C, NM_001351344.1:c.108G>C, NM_001145258.2:c.345G>C, NM_001145258.1:c.345G>C, XM_005268944.5:c.717G>C, XM_005268944.4:c.717G>C, XM_005268944.3:c.717G>C, XM_005268944.2:c.717G>C, XM_005268944.1:c.717G>C, XM_005268945.5:c.717G>C, XM_005268945.4:c.717G>C, XM_005268945.3:c.717G>C, XM_005268945.2:c.717G>C, XM_005268945.1:c.717G>C, XM_006719438.4:c.717G>C, XM_006719438.3:c.717G>C, XM_006719438.2:c.717G>C, XM_006719438.1:c.717G>C, XM_005268943.4:c.717G>C, XM_005268943.3:c.717G>C, XM_005268943.2:c.717G>C, XM_005268943.1:c.717G>C, XM_011538431.3:c.717G>C, XM_011538431.2:c.717G>C, XM_011538431.1:c.717G>C, XM_017019390.3:c.717G>C, XM_017019390.2:c.717G>C, XM_017019390.1:c.717G>C, NP_057207.2:p.Lys239Asn, NP_001107654.1:p.Lys239Asn, NP_001338267.1:p.Lys115Asn, NP_001338270.1:p.Lys115Asn, NP_001338274.1:p.Lys239Asn, NP_001338268.1:p.Lys115Asn, NP_001338269.1:p.Lys115Asn, NP_001338272.1:p.Lys36Asn, NP_001138728.1:p.Lys115Asn, NP_001338271.1:p.Lys115Asn, NP_001138729.1:p.Lys115Asn, NP_001338273.1:p.Lys36Asn, NP_001138730.1:p.Lys115Asn, XP_005269001.1:p.Lys239Asn, XP_005269002.1:p.Lys239Asn, XP_006719501.1:p.Lys239Asn, XP_005269000.1:p.Lys239Asn, XP_011536733.1:p.Lys239Asn, XP_016874879.1:p.Lys239Asn

              7.

              rs1465941653 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:43777696 (GRCh38)
                12:44171499 (GRCh37)
                Canonical SPDI:
                NC_000012.12:43777695:A:G
                Gene:
                IRAK4 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000012.12:g.43777696A>G, NC_000012.11:g.44171499A>G, NG_009892.1:g.23753A>G, NM_016123.4:c.783A>G, NM_016123.3:c.783A>G, NM_001114182.3:c.783A>G, NM_001114182.2:c.783A>G, NM_001351338.2:c.411A>G, NM_001351338.1:c.411A>G, NM_001351341.2:c.411A>G, NM_001351341.1:c.411A>G, NM_001351345.2:c.783A>G, NM_001351345.1:c.783A>G, NM_001351339.2:c.411A>G, NM_001351339.1:c.411A>G, NM_001351340.2:c.411A>G, NM_001351340.1:c.411A>G, NM_001351343.2:c.174A>G, NM_001351343.1:c.174A>G, NM_001145256.2:c.411A>G, NM_001145256.1:c.411A>G, NM_001351342.2:c.411A>G, NM_001351342.1:c.411A>G, NM_001145257.2:c.411A>G, NM_001145257.1:c.411A>G, NM_001351344.2:c.174A>G, NM_001351344.1:c.174A>G, NM_001145258.2:c.411A>G, NM_001145258.1:c.411A>G, XM_005268944.5:c.783A>G, XM_005268944.4:c.783A>G, XM_005268944.3:c.783A>G, XM_005268944.2:c.783A>G, XM_005268944.1:c.783A>G, XM_005268945.5:c.783A>G, XM_005268945.4:c.783A>G, XM_005268945.3:c.783A>G, XM_005268945.2:c.783A>G, XM_005268945.1:c.783A>G, XM_006719438.4:c.783A>G, XM_006719438.3:c.783A>G, XM_006719438.2:c.783A>G, XM_006719438.1:c.783A>G, XM_005268943.4:c.783A>G, XM_005268943.3:c.783A>G, XM_005268943.2:c.783A>G, XM_005268943.1:c.783A>G, XM_011538431.3:c.783A>G, XM_011538431.2:c.783A>G, XM_011538431.1:c.783A>G, XM_017019390.3:c.783A>G, XM_017019390.2:c.783A>G, XM_017019390.1:c.783A>G

                8.

                rs1462463922 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:43786551 (GRCh38)
                  12:44180354 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:43786550:T:C
                  Gene:
                  IRAK4 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000012.12:g.43786551T>C, NC_000012.11:g.44180354T>C, NG_009892.1:g.32608T>C, NM_016123.4:c.1341T>C, NM_016123.3:c.1341T>C, NM_001114182.3:c.1341T>C, NM_001114182.2:c.1341T>C, NM_001351338.2:c.969T>C, NM_001351338.1:c.969T>C, NM_001351341.2:c.969T>C, NM_001351341.1:c.969T>C, NM_001351345.2:c.1341T>C, NM_001351345.1:c.1341T>C, NM_001351339.2:c.969T>C, NM_001351339.1:c.969T>C, NM_001351340.2:c.969T>C, NM_001351340.1:c.969T>C, NM_001351343.2:c.732T>C, NM_001351343.1:c.732T>C, NM_001145256.2:c.969T>C, NM_001145256.1:c.969T>C, NM_001351342.2:c.969T>C, NM_001351342.1:c.969T>C, NM_001145257.2:c.969T>C, NM_001145257.1:c.969T>C, NM_001351344.2:c.732T>C, NM_001351344.1:c.732T>C, NM_001145258.2:c.969T>C, NM_001145258.1:c.969T>C, XM_005268944.5:c.1341T>C, XM_005268944.4:c.1341T>C, XM_005268944.3:c.1341T>C, XM_005268944.2:c.1341T>C, XM_005268944.1:c.1341T>C, XM_005268945.5:c.1341T>C, XM_005268945.4:c.1341T>C, XM_005268945.3:c.1341T>C, XM_005268945.2:c.1341T>C, XM_005268945.1:c.1341T>C, XM_006719438.4:c.1341T>C, XM_006719438.3:c.1341T>C, XM_006719438.2:c.1341T>C, XM_006719438.1:c.1341T>C, XM_005268943.4:c.1341T>C, XM_005268943.3:c.1341T>C, XM_005268943.2:c.1341T>C, XM_005268943.1:c.1341T>C, XM_011538431.3:c.1341T>C, XM_011538431.2:c.1341T>C, XM_011538431.1:c.1341T>C, XM_017019390.3:c.1341T>C, XM_017019390.2:c.1341T>C, XM_017019390.1:c.1341T>C

                  9.

                  rs1461455703 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:43786487 (GRCh38)
                    12:44180290 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:43786486:T:C
                    Gene:
                    IRAK4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.43786487T>C, NC_000012.11:g.44180290T>C, NG_009892.1:g.32544T>C, NM_016123.4:c.1277T>C, NM_016123.3:c.1277T>C, NM_001114182.3:c.1277T>C, NM_001114182.2:c.1277T>C, NM_001351338.2:c.905T>C, NM_001351338.1:c.905T>C, NM_001351341.2:c.905T>C, NM_001351341.1:c.905T>C, NM_001351345.2:c.1277T>C, NM_001351345.1:c.1277T>C, NM_001351339.2:c.905T>C, NM_001351339.1:c.905T>C, NM_001351340.2:c.905T>C, NM_001351340.1:c.905T>C, NM_001351343.2:c.668T>C, NM_001351343.1:c.668T>C, NM_001145256.2:c.905T>C, NM_001145256.1:c.905T>C, NM_001351342.2:c.905T>C, NM_001351342.1:c.905T>C, NM_001145257.2:c.905T>C, NM_001145257.1:c.905T>C, NM_001351344.2:c.668T>C, NM_001351344.1:c.668T>C, NM_001145258.2:c.905T>C, NM_001145258.1:c.905T>C, XM_005268944.5:c.1277T>C, XM_005268944.4:c.1277T>C, XM_005268944.3:c.1277T>C, XM_005268944.2:c.1277T>C, XM_005268944.1:c.1277T>C, XM_005268945.5:c.1277T>C, XM_005268945.4:c.1277T>C, XM_005268945.3:c.1277T>C, XM_005268945.2:c.1277T>C, XM_005268945.1:c.1277T>C, XM_006719438.4:c.1277T>C, XM_006719438.3:c.1277T>C, XM_006719438.2:c.1277T>C, XM_006719438.1:c.1277T>C, XM_005268943.4:c.1277T>C, XM_005268943.3:c.1277T>C, XM_005268943.2:c.1277T>C, XM_005268943.1:c.1277T>C, XM_011538431.3:c.1277T>C, XM_011538431.2:c.1277T>C, XM_011538431.1:c.1277T>C, XM_017019390.3:c.1277T>C, XM_017019390.2:c.1277T>C, XM_017019390.1:c.1277T>C, NP_057207.2:p.Val426Ala, NP_001107654.1:p.Val426Ala, NP_001338267.1:p.Val302Ala, NP_001338270.1:p.Val302Ala, NP_001338274.1:p.Val426Ala, NP_001338268.1:p.Val302Ala, NP_001338269.1:p.Val302Ala, NP_001338272.1:p.Val223Ala, NP_001138728.1:p.Val302Ala, NP_001338271.1:p.Val302Ala, NP_001138729.1:p.Val302Ala, NP_001338273.1:p.Val223Ala, NP_001138730.1:p.Val302Ala, XP_005269001.1:p.Val426Ala, XP_005269002.1:p.Val426Ala, XP_006719501.1:p.Val426Ala, XP_005269000.1:p.Val426Ala, XP_011536733.1:p.Val426Ala, XP_016874879.1:p.Val426Ala

                    10.

                    rs1461089241 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:43774006 (GRCh38)
                      12:44167809 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:43774005:T:C
                      Gene:
                      IRAK4 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.43774006T>C, NC_000012.11:g.44167809T>C, NG_009892.1:g.20063T>C, NM_016123.4:c.693T>C, NM_016123.3:c.693T>C, NM_001114182.3:c.693T>C, NM_001114182.2:c.693T>C, NM_001351338.2:c.321T>C, NM_001351338.1:c.321T>C, NM_001351341.2:c.321T>C, NM_001351341.1:c.321T>C, NM_001351345.2:c.693T>C, NM_001351345.1:c.693T>C, NM_001351339.2:c.321T>C, NM_001351339.1:c.321T>C, NM_001351340.2:c.321T>C, NM_001351340.1:c.321T>C, NM_001351343.2:c.84T>C, NM_001351343.1:c.84T>C, NM_001145256.2:c.321T>C, NM_001145256.1:c.321T>C, NM_001351342.2:c.321T>C, NM_001351342.1:c.321T>C, NM_001145257.2:c.321T>C, NM_001145257.1:c.321T>C, NM_001351344.2:c.84T>C, NM_001351344.1:c.84T>C, NM_001145258.2:c.321T>C, NM_001145258.1:c.321T>C, XM_005268944.5:c.693T>C, XM_005268944.4:c.693T>C, XM_005268944.3:c.693T>C, XM_005268944.2:c.693T>C, XM_005268944.1:c.693T>C, XM_005268945.5:c.693T>C, XM_005268945.4:c.693T>C, XM_005268945.3:c.693T>C, XM_005268945.2:c.693T>C, XM_005268945.1:c.693T>C, XM_006719438.4:c.693T>C, XM_006719438.3:c.693T>C, XM_006719438.2:c.693T>C, XM_006719438.1:c.693T>C, XM_005268943.4:c.693T>C, XM_005268943.3:c.693T>C, XM_005268943.2:c.693T>C, XM_005268943.1:c.693T>C, XM_011538431.3:c.693T>C, XM_011538431.2:c.693T>C, XM_011538431.1:c.693T>C, XM_017019390.3:c.693T>C, XM_017019390.2:c.693T>C, XM_017019390.1:c.693T>C

                      11.

                      rs1457871960 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:43773973 (GRCh38)
                        12:44167776 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:43773972:C:T
                        Gene:
                        IRAK4 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        HGVS:
                        NC_000012.12:g.43773973C>T, NC_000012.11:g.44167776C>T, NG_009892.1:g.20030C>T, NM_016123.4:c.660C>T, NM_016123.3:c.660C>T, NM_001114182.3:c.660C>T, NM_001114182.2:c.660C>T, NM_001351338.2:c.288C>T, NM_001351338.1:c.288C>T, NM_001351341.2:c.288C>T, NM_001351341.1:c.288C>T, NM_001351345.2:c.660C>T, NM_001351345.1:c.660C>T, NM_001351339.2:c.288C>T, NM_001351339.1:c.288C>T, NM_001351340.2:c.288C>T, NM_001351340.1:c.288C>T, NM_001351343.2:c.51C>T, NM_001351343.1:c.51C>T, NM_001145256.2:c.288C>T, NM_001145256.1:c.288C>T, NM_001351342.2:c.288C>T, NM_001351342.1:c.288C>T, NM_001145257.2:c.288C>T, NM_001145257.1:c.288C>T, NM_001351344.2:c.51C>T, NM_001351344.1:c.51C>T, NM_001145258.2:c.288C>T, NM_001145258.1:c.288C>T, XM_005268944.5:c.660C>T, XM_005268944.4:c.660C>T, XM_005268944.3:c.660C>T, XM_005268944.2:c.660C>T, XM_005268944.1:c.660C>T, XM_005268945.5:c.660C>T, XM_005268945.4:c.660C>T, XM_005268945.3:c.660C>T, XM_005268945.2:c.660C>T, XM_005268945.1:c.660C>T, XM_006719438.4:c.660C>T, XM_006719438.3:c.660C>T, XM_006719438.2:c.660C>T, XM_006719438.1:c.660C>T, XM_005268943.4:c.660C>T, XM_005268943.3:c.660C>T, XM_005268943.2:c.660C>T, XM_005268943.1:c.660C>T, XM_011538431.3:c.660C>T, XM_011538431.2:c.660C>T, XM_011538431.1:c.660C>T, XM_017019390.3:c.660C>T, XM_017019390.2:c.660C>T, XM_017019390.1:c.660C>T

                        12.

                        rs1454427462 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          12:43786523 (GRCh38)
                          12:44180326 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:43786522:A:C
                          Gene:
                          IRAK4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000012.12:g.43786523A>C, NC_000012.11:g.44180326A>C, NG_009892.1:g.32580A>C, NM_016123.4:c.1313A>C, NM_016123.3:c.1313A>C, NM_001114182.3:c.1313A>C, NM_001114182.2:c.1313A>C, NM_001351338.2:c.941A>C, NM_001351338.1:c.941A>C, NM_001351341.2:c.941A>C, NM_001351341.1:c.941A>C, NM_001351345.2:c.1313A>C, NM_001351345.1:c.1313A>C, NM_001351339.2:c.941A>C, NM_001351339.1:c.941A>C, NM_001351340.2:c.941A>C, NM_001351340.1:c.941A>C, NM_001351343.2:c.704A>C, NM_001351343.1:c.704A>C, NM_001145256.2:c.941A>C, NM_001145256.1:c.941A>C, NM_001351342.2:c.941A>C, NM_001351342.1:c.941A>C, NM_001145257.2:c.941A>C, NM_001145257.1:c.941A>C, NM_001351344.2:c.704A>C, NM_001351344.1:c.704A>C, NM_001145258.2:c.941A>C, NM_001145258.1:c.941A>C, XM_005268944.5:c.1313A>C, XM_005268944.4:c.1313A>C, XM_005268944.3:c.1313A>C, XM_005268944.2:c.1313A>C, XM_005268944.1:c.1313A>C, XM_005268945.5:c.1313A>C, XM_005268945.4:c.1313A>C, XM_005268945.3:c.1313A>C, XM_005268945.2:c.1313A>C, XM_005268945.1:c.1313A>C, XM_006719438.4:c.1313A>C, XM_006719438.3:c.1313A>C, XM_006719438.2:c.1313A>C, XM_006719438.1:c.1313A>C, XM_005268943.4:c.1313A>C, XM_005268943.3:c.1313A>C, XM_005268943.2:c.1313A>C, XM_005268943.1:c.1313A>C, XM_011538431.3:c.1313A>C, XM_011538431.2:c.1313A>C, XM_011538431.1:c.1313A>C, XM_017019390.3:c.1313A>C, XM_017019390.2:c.1313A>C, XM_017019390.1:c.1313A>C, NP_057207.2:p.His438Pro, NP_001107654.1:p.His438Pro, NP_001338267.1:p.His314Pro, NP_001338270.1:p.His314Pro, NP_001338274.1:p.His438Pro, NP_001338268.1:p.His314Pro, NP_001338269.1:p.His314Pro, NP_001338272.1:p.His235Pro, NP_001138728.1:p.His314Pro, NP_001338271.1:p.His314Pro, NP_001138729.1:p.His314Pro, NP_001338273.1:p.His235Pro, NP_001138730.1:p.His314Pro, XP_005269001.1:p.His438Pro, XP_005269002.1:p.His438Pro, XP_006719501.1:p.His438Pro, XP_005269000.1:p.His438Pro, XP_011536733.1:p.His438Pro, XP_016874879.1:p.His438Pro

                          13.

                          rs1453692077 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:43782345 (GRCh38)
                            12:44176148 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:43782344:T:C
                            Gene:
                            IRAK4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000012.12:g.43782345T>C, NC_000012.11:g.44176148T>C, NG_009892.1:g.28402T>C, NM_016123.4:c.980T>C, NM_016123.3:c.980T>C, NM_001114182.3:c.980T>C, NM_001114182.2:c.980T>C, NM_001351338.2:c.608T>C, NM_001351338.1:c.608T>C, NM_001351341.2:c.608T>C, NM_001351341.1:c.608T>C, NM_001351345.2:c.980T>C, NM_001351345.1:c.980T>C, NM_001351339.2:c.608T>C, NM_001351339.1:c.608T>C, NM_001351340.2:c.608T>C, NM_001351340.1:c.608T>C, NM_001351343.2:c.371T>C, NM_001351343.1:c.371T>C, NM_001145256.2:c.608T>C, NM_001145256.1:c.608T>C, NM_001351342.2:c.608T>C, NM_001351342.1:c.608T>C, NM_001145257.2:c.608T>C, NM_001145257.1:c.608T>C, NM_001351344.2:c.371T>C, NM_001351344.1:c.371T>C, NM_001145258.2:c.608T>C, NM_001145258.1:c.608T>C, XM_005268944.5:c.980T>C, XM_005268944.4:c.980T>C, XM_005268944.3:c.980T>C, XM_005268944.2:c.980T>C, XM_005268944.1:c.980T>C, XM_005268945.5:c.980T>C, XM_005268945.4:c.980T>C, XM_005268945.3:c.980T>C, XM_005268945.2:c.980T>C, XM_005268945.1:c.980T>C, XM_006719438.4:c.980T>C, XM_006719438.3:c.980T>C, XM_006719438.2:c.980T>C, XM_006719438.1:c.980T>C, XM_005268943.4:c.980T>C, XM_005268943.3:c.980T>C, XM_005268943.2:c.980T>C, XM_005268943.1:c.980T>C, XM_011538431.3:c.980T>C, XM_011538431.2:c.980T>C, XM_011538431.1:c.980T>C, XM_017019390.3:c.980T>C, XM_017019390.2:c.980T>C, XM_017019390.1:c.980T>C, NP_057207.2:p.Ile327Thr, NP_001107654.1:p.Ile327Thr, NP_001338267.1:p.Ile203Thr, NP_001338270.1:p.Ile203Thr, NP_001338274.1:p.Ile327Thr, NP_001338268.1:p.Ile203Thr, NP_001338269.1:p.Ile203Thr, NP_001338272.1:p.Ile124Thr, NP_001138728.1:p.Ile203Thr, NP_001338271.1:p.Ile203Thr, NP_001138729.1:p.Ile203Thr, NP_001338273.1:p.Ile124Thr, NP_001138730.1:p.Ile203Thr, XP_005269001.1:p.Ile327Thr, XP_005269002.1:p.Ile327Thr, XP_006719501.1:p.Ile327Thr, XP_005269000.1:p.Ile327Thr, XP_011536733.1:p.Ile327Thr, XP_016874879.1:p.Ile327Thr

                            14.

                            rs1452721387 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              12:43772272 (GRCh38)
                              12:44166075 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:43772271:T:G
                              Gene:
                              IRAK4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,5_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000012.12:g.43772272T>G, NC_000012.11:g.44166075T>G, NG_009892.1:g.18329T>G, NM_016123.4:c.400T>G, NM_016123.3:c.400T>G, NM_001114182.3:c.400T>G, NM_001114182.2:c.400T>G, NM_001351338.2:c.28T>G, NM_001351338.1:c.28T>G, NM_001351341.2:c.28T>G, NM_001351341.1:c.28T>G, NM_001351345.2:c.400T>G, NM_001351345.1:c.400T>G, NM_001351339.2:c.28T>G, NM_001351339.1:c.28T>G, NM_001351340.2:c.28T>G, NM_001351340.1:c.28T>G, NM_001351343.2:c.-124T>G, NM_001351343.1:c.-124T>G, NM_001145256.2:c.28T>G, NM_001145256.1:c.28T>G, NM_001351342.2:c.28T>G, NM_001351342.1:c.28T>G, NM_001145257.2:c.28T>G, NM_001145257.1:c.28T>G, NM_001351344.2:c.-124T>G, NM_001351344.1:c.-124T>G, NM_001145258.2:c.28T>G, NM_001145258.1:c.28T>G, XM_005268944.5:c.400T>G, XM_005268944.4:c.400T>G, XM_005268944.3:c.400T>G, XM_005268944.2:c.400T>G, XM_005268944.1:c.400T>G, XM_005268945.5:c.400T>G, XM_005268945.4:c.400T>G, XM_005268945.3:c.400T>G, XM_005268945.2:c.400T>G, XM_005268945.1:c.400T>G, XM_006719438.4:c.400T>G, XM_006719438.3:c.400T>G, XM_006719438.2:c.400T>G, XM_006719438.1:c.400T>G, XM_005268943.4:c.400T>G, XM_005268943.3:c.400T>G, XM_005268943.2:c.400T>G, XM_005268943.1:c.400T>G, XM_011538431.3:c.400T>G, XM_011538431.2:c.400T>G, XM_011538431.1:c.400T>G, XM_017019390.3:c.400T>G, XM_017019390.2:c.400T>G, XM_017019390.1:c.400T>G, NP_057207.2:p.Leu134Val, NP_001107654.1:p.Leu134Val, NP_001338267.1:p.Leu10Val, NP_001338270.1:p.Leu10Val, NP_001338274.1:p.Leu134Val, NP_001338268.1:p.Leu10Val, NP_001338269.1:p.Leu10Val, NP_001138728.1:p.Leu10Val, NP_001338271.1:p.Leu10Val, NP_001138729.1:p.Leu10Val, NP_001138730.1:p.Leu10Val, XP_005269001.1:p.Leu134Val, XP_005269002.1:p.Leu134Val, XP_006719501.1:p.Leu134Val, XP_005269000.1:p.Leu134Val, XP_011536733.1:p.Leu134Val, XP_016874879.1:p.Leu134Val

                              15.

                              rs1445249498 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                12:43773052 (GRCh38)
                                12:44166855 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:43773051:G:T
                                Gene:
                                IRAK4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.43773052G>T, NC_000012.11:g.44166855G>T, NG_009892.1:g.19109G>T, NM_016123.4:c.631G>T, NM_016123.3:c.631G>T, NM_001114182.3:c.631G>T, NM_001114182.2:c.631G>T, NM_001351338.2:c.259G>T, NM_001351338.1:c.259G>T, NM_001351341.2:c.259G>T, NM_001351341.1:c.259G>T, NM_001351345.2:c.631G>T, NM_001351345.1:c.631G>T, NM_001351339.2:c.259G>T, NM_001351339.1:c.259G>T, NM_001351340.2:c.259G>T, NM_001351340.1:c.259G>T, NM_001145256.2:c.259G>T, NM_001145256.1:c.259G>T, NM_001351342.2:c.259G>T, NM_001351342.1:c.259G>T, NM_001145257.2:c.259G>T, NM_001145257.1:c.259G>T, NM_001145258.2:c.259G>T, NM_001145258.1:c.259G>T, XM_005268944.5:c.631G>T, XM_005268944.4:c.631G>T, XM_005268944.3:c.631G>T, XM_005268944.2:c.631G>T, XM_005268944.1:c.631G>T, XM_005268945.5:c.631G>T, XM_005268945.4:c.631G>T, XM_005268945.3:c.631G>T, XM_005268945.2:c.631G>T, XM_005268945.1:c.631G>T, XM_006719438.4:c.631G>T, XM_006719438.3:c.631G>T, XM_006719438.2:c.631G>T, XM_006719438.1:c.631G>T, XM_005268943.4:c.631G>T, XM_005268943.3:c.631G>T, XM_005268943.2:c.631G>T, XM_005268943.1:c.631G>T, XM_011538431.3:c.631G>T, XM_011538431.2:c.631G>T, XM_011538431.1:c.631G>T, XM_017019390.3:c.631G>T, XM_017019390.2:c.631G>T, XM_017019390.1:c.631G>T, NP_057207.2:p.Ala211Ser, NP_001107654.1:p.Ala211Ser, NP_001338267.1:p.Ala87Ser, NP_001338270.1:p.Ala87Ser, NP_001338274.1:p.Ala211Ser, NP_001338268.1:p.Ala87Ser, NP_001338269.1:p.Ala87Ser, NP_001138728.1:p.Ala87Ser, NP_001338271.1:p.Ala87Ser, NP_001138729.1:p.Ala87Ser, NP_001138730.1:p.Ala87Ser, XP_005269001.1:p.Ala211Ser, XP_005269002.1:p.Ala211Ser, XP_006719501.1:p.Ala211Ser, XP_005269000.1:p.Ala211Ser, XP_011536733.1:p.Ala211Ser, XP_016874879.1:p.Ala211Ser

                                16.

                                rs1444935808 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  12:43782336 (GRCh38)
                                  12:44176139 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:43782335:C:T
                                  Gene:
                                  IRAK4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.43782336C>T, NC_000012.11:g.44176139C>T, NG_009892.1:g.28393C>T, NM_016123.4:c.971C>T, NM_016123.3:c.971C>T, NM_001114182.3:c.971C>T, NM_001114182.2:c.971C>T, NM_001351338.2:c.599C>T, NM_001351338.1:c.599C>T, NM_001351341.2:c.599C>T, NM_001351341.1:c.599C>T, NM_001351345.2:c.971C>T, NM_001351345.1:c.971C>T, NM_001351339.2:c.599C>T, NM_001351339.1:c.599C>T, NM_001351340.2:c.599C>T, NM_001351340.1:c.599C>T, NM_001351343.2:c.362C>T, NM_001351343.1:c.362C>T, NM_001145256.2:c.599C>T, NM_001145256.1:c.599C>T, NM_001351342.2:c.599C>T, NM_001351342.1:c.599C>T, NM_001145257.2:c.599C>T, NM_001145257.1:c.599C>T, NM_001351344.2:c.362C>T, NM_001351344.1:c.362C>T, NM_001145258.2:c.599C>T, NM_001145258.1:c.599C>T, XM_005268944.5:c.971C>T, XM_005268944.4:c.971C>T, XM_005268944.3:c.971C>T, XM_005268944.2:c.971C>T, XM_005268944.1:c.971C>T, XM_005268945.5:c.971C>T, XM_005268945.4:c.971C>T, XM_005268945.3:c.971C>T, XM_005268945.2:c.971C>T, XM_005268945.1:c.971C>T, XM_006719438.4:c.971C>T, XM_006719438.3:c.971C>T, XM_006719438.2:c.971C>T, XM_006719438.1:c.971C>T, XM_005268943.4:c.971C>T, XM_005268943.3:c.971C>T, XM_005268943.2:c.971C>T, XM_005268943.1:c.971C>T, XM_011538431.3:c.971C>T, XM_011538431.2:c.971C>T, XM_011538431.1:c.971C>T, XM_017019390.3:c.971C>T, XM_017019390.2:c.971C>T, XM_017019390.1:c.971C>T, NP_057207.2:p.Thr324Ile, NP_001107654.1:p.Thr324Ile, NP_001338267.1:p.Thr200Ile, NP_001338270.1:p.Thr200Ile, NP_001338274.1:p.Thr324Ile, NP_001338268.1:p.Thr200Ile, NP_001338269.1:p.Thr200Ile, NP_001338272.1:p.Thr121Ile, NP_001138728.1:p.Thr200Ile, NP_001338271.1:p.Thr200Ile, NP_001138729.1:p.Thr200Ile, NP_001338273.1:p.Thr121Ile, NP_001138730.1:p.Thr200Ile, XP_005269001.1:p.Thr324Ile, XP_005269002.1:p.Thr324Ile, XP_006719501.1:p.Thr324Ile, XP_005269000.1:p.Thr324Ile, XP_011536733.1:p.Thr324Ile, XP_016874879.1:p.Thr324Ile

                                  17.

                                  rs1441164217 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    12:43778256 (GRCh38)
                                    12:44172059 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:43778255:A:T
                                    Gene:
                                    IRAK4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.43778256A>T, NC_000012.11:g.44172059A>T, NG_009892.1:g.24313A>T, NM_016123.4:c.895A>T, NM_016123.3:c.895A>T, NM_001114182.3:c.895A>T, NM_001114182.2:c.895A>T, NM_001351338.2:c.523A>T, NM_001351338.1:c.523A>T, NM_001351341.2:c.523A>T, NM_001351341.1:c.523A>T, NM_001351345.2:c.895A>T, NM_001351345.1:c.895A>T, NM_001351339.2:c.523A>T, NM_001351339.1:c.523A>T, NM_001351340.2:c.523A>T, NM_001351340.1:c.523A>T, NM_001351343.2:c.286A>T, NM_001351343.1:c.286A>T, NM_001145256.2:c.523A>T, NM_001145256.1:c.523A>T, NM_001351342.2:c.523A>T, NM_001351342.1:c.523A>T, NM_001145257.2:c.523A>T, NM_001145257.1:c.523A>T, NM_001351344.2:c.286A>T, NM_001351344.1:c.286A>T, NM_001145258.2:c.523A>T, NM_001145258.1:c.523A>T, XM_005268944.5:c.895A>T, XM_005268944.4:c.895A>T, XM_005268944.3:c.895A>T, XM_005268944.2:c.895A>T, XM_005268944.1:c.895A>T, XM_005268945.5:c.895A>T, XM_005268945.4:c.895A>T, XM_005268945.3:c.895A>T, XM_005268945.2:c.895A>T, XM_005268945.1:c.895A>T, XM_006719438.4:c.895A>T, XM_006719438.3:c.895A>T, XM_006719438.2:c.895A>T, XM_006719438.1:c.895A>T, XM_005268943.4:c.895A>T, XM_005268943.3:c.895A>T, XM_005268943.2:c.895A>T, XM_005268943.1:c.895A>T, XM_011538431.3:c.895A>T, XM_011538431.2:c.895A>T, XM_011538431.1:c.895A>T, XM_017019390.3:c.895A>T, XM_017019390.2:c.895A>T, XM_017019390.1:c.895A>T, NP_057207.2:p.Ile299Phe, NP_001107654.1:p.Ile299Phe, NP_001338267.1:p.Ile175Phe, NP_001338270.1:p.Ile175Phe, NP_001338274.1:p.Ile299Phe, NP_001338268.1:p.Ile175Phe, NP_001338269.1:p.Ile175Phe, NP_001338272.1:p.Ile96Phe, NP_001138728.1:p.Ile175Phe, NP_001338271.1:p.Ile175Phe, NP_001138729.1:p.Ile175Phe, NP_001338273.1:p.Ile96Phe, NP_001138730.1:p.Ile175Phe, XP_005269001.1:p.Ile299Phe, XP_005269002.1:p.Ile299Phe, XP_006719501.1:p.Ile299Phe, XP_005269000.1:p.Ile299Phe, XP_011536733.1:p.Ile299Phe, XP_016874879.1:p.Ile299Phe

                                    18.

                                    rs1439976738 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      12:43778212 (GRCh38)
                                      12:44172015 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:43778211:C:G,NC_000012.12:43778211:C:T
                                      Gene:
                                      IRAK4 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.43778212C>G, NC_000012.12:g.43778212C>T, NC_000012.11:g.44172015C>G, NC_000012.11:g.44172015C>T, NG_009892.1:g.24269C>G, NG_009892.1:g.24269C>T, NM_016123.4:c.851C>G, NM_016123.4:c.851C>T, NM_016123.3:c.851C>G, NM_016123.3:c.851C>T, NM_001114182.3:c.851C>G, NM_001114182.3:c.851C>T, NM_001114182.2:c.851C>G, NM_001114182.2:c.851C>T, NM_001351338.2:c.479C>G, NM_001351338.2:c.479C>T, NM_001351338.1:c.479C>G, NM_001351338.1:c.479C>T, NM_001351341.2:c.479C>G, NM_001351341.2:c.479C>T, NM_001351341.1:c.479C>G, NM_001351341.1:c.479C>T, NM_001351345.2:c.851C>G, NM_001351345.2:c.851C>T, NM_001351345.1:c.851C>G, NM_001351345.1:c.851C>T, NM_001351339.2:c.479C>G, NM_001351339.2:c.479C>T, NM_001351339.1:c.479C>G, NM_001351339.1:c.479C>T, NM_001351340.2:c.479C>G, NM_001351340.2:c.479C>T, NM_001351340.1:c.479C>G, NM_001351340.1:c.479C>T, NM_001351343.2:c.242C>G, NM_001351343.2:c.242C>T, NM_001351343.1:c.242C>G, NM_001351343.1:c.242C>T, NM_001145256.2:c.479C>G, NM_001145256.2:c.479C>T, NM_001145256.1:c.479C>G, NM_001145256.1:c.479C>T, NM_001351342.2:c.479C>G, NM_001351342.2:c.479C>T, NM_001351342.1:c.479C>G, NM_001351342.1:c.479C>T, NM_001145257.2:c.479C>G, NM_001145257.2:c.479C>T, NM_001145257.1:c.479C>G, NM_001145257.1:c.479C>T, NM_001351344.2:c.242C>G, NM_001351344.2:c.242C>T, NM_001351344.1:c.242C>G, NM_001351344.1:c.242C>T, NM_001145258.2:c.479C>G, NM_001145258.2:c.479C>T, NM_001145258.1:c.479C>G, NM_001145258.1:c.479C>T, XM_005268944.5:c.851C>G, XM_005268944.5:c.851C>T, XM_005268944.4:c.851C>G, XM_005268944.4:c.851C>T, XM_005268944.3:c.851C>G, XM_005268944.3:c.851C>T, XM_005268944.2:c.851C>G, XM_005268944.2:c.851C>T, XM_005268944.1:c.851C>G, XM_005268944.1:c.851C>T, XM_005268945.5:c.851C>G, XM_005268945.5:c.851C>T, XM_005268945.4:c.851C>G, XM_005268945.4:c.851C>T, XM_005268945.3:c.851C>G, XM_005268945.3:c.851C>T, XM_005268945.2:c.851C>G, XM_005268945.2:c.851C>T, XM_005268945.1:c.851C>G, XM_005268945.1:c.851C>T, XM_006719438.4:c.851C>G, XM_006719438.4:c.851C>T, XM_006719438.3:c.851C>G, XM_006719438.3:c.851C>T, XM_006719438.2:c.851C>G, XM_006719438.2:c.851C>T, XM_006719438.1:c.851C>G, XM_006719438.1:c.851C>T, XM_005268943.4:c.851C>G, XM_005268943.4:c.851C>T, XM_005268943.3:c.851C>G, XM_005268943.3:c.851C>T, XM_005268943.2:c.851C>G, XM_005268943.2:c.851C>T, XM_005268943.1:c.851C>G, XM_005268943.1:c.851C>T, XM_011538431.3:c.851C>G, XM_011538431.3:c.851C>T, XM_011538431.2:c.851C>G, XM_011538431.2:c.851C>T, XM_011538431.1:c.851C>G, XM_011538431.1:c.851C>T, XM_017019390.3:c.851C>G, XM_017019390.3:c.851C>T, XM_017019390.2:c.851C>G, XM_017019390.2:c.851C>T, XM_017019390.1:c.851C>G, XM_017019390.1:c.851C>T, NP_057207.2:p.Ser284Cys, NP_057207.2:p.Ser284Phe, NP_001107654.1:p.Ser284Cys, NP_001107654.1:p.Ser284Phe, NP_001338267.1:p.Ser160Cys, NP_001338267.1:p.Ser160Phe, NP_001338270.1:p.Ser160Cys, NP_001338270.1:p.Ser160Phe, NP_001338274.1:p.Ser284Cys, NP_001338274.1:p.Ser284Phe, NP_001338268.1:p.Ser160Cys, NP_001338268.1:p.Ser160Phe, NP_001338269.1:p.Ser160Cys, NP_001338269.1:p.Ser160Phe, NP_001338272.1:p.Ser81Cys, NP_001338272.1:p.Ser81Phe, NP_001138728.1:p.Ser160Cys, NP_001138728.1:p.Ser160Phe, NP_001338271.1:p.Ser160Cys, NP_001338271.1:p.Ser160Phe, NP_001138729.1:p.Ser160Cys, NP_001138729.1:p.Ser160Phe, NP_001338273.1:p.Ser81Cys, NP_001338273.1:p.Ser81Phe, NP_001138730.1:p.Ser160Cys, NP_001138730.1:p.Ser160Phe, XP_005269001.1:p.Ser284Cys, XP_005269001.1:p.Ser284Phe, XP_005269002.1:p.Ser284Cys, XP_005269002.1:p.Ser284Phe, XP_006719501.1:p.Ser284Cys, XP_006719501.1:p.Ser284Phe, XP_005269000.1:p.Ser284Cys, XP_005269000.1:p.Ser284Phe, XP_011536733.1:p.Ser284Cys, XP_011536733.1:p.Ser284Phe, XP_016874879.1:p.Ser284Cys, XP_016874879.1:p.Ser284Phe

                                      19.

                                      rs1432906616 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:43786702 (GRCh38)
                                        12:44180505 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:43786701:T:C
                                        Gene:
                                        IRAK4 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000012.12:g.43786702T>C, NC_000012.11:g.44180505T>C, NG_009892.1:g.32759T>C, NM_016123.4:c.1370T>C, NM_016123.3:c.1370T>C, NM_001114182.3:c.1370T>C, NM_001114182.2:c.1370T>C, NM_001351338.2:c.998T>C, NM_001351338.1:c.998T>C, NM_001351341.2:c.998T>C, NM_001351341.1:c.998T>C, NM_001351345.2:c.1370T>C, NM_001351345.1:c.1370T>C, NM_001351339.2:c.998T>C, NM_001351339.1:c.998T>C, NM_001351340.2:c.998T>C, NM_001351340.1:c.998T>C, NM_001351343.2:c.761T>C, NM_001351343.1:c.761T>C, NM_001145256.2:c.998T>C, NM_001145256.1:c.998T>C, NM_001351342.2:c.998T>C, NM_001351342.1:c.998T>C, NM_001145257.2:c.998T>C, NM_001145257.1:c.998T>C, NM_001351344.2:c.761T>C, NM_001351344.1:c.761T>C, NM_001145258.2:c.998T>C, NM_001145258.1:c.998T>C, XM_005268944.5:c.1370T>C, XM_005268944.4:c.1370T>C, XM_005268944.3:c.1370T>C, XM_005268944.2:c.1370T>C, XM_005268944.1:c.1370T>C, XM_005268945.5:c.1370T>C, XM_005268945.4:c.1370T>C, XM_005268945.3:c.1370T>C, XM_005268945.2:c.1370T>C, XM_005268945.1:c.1370T>C, XM_006719438.4:c.1370T>C, XM_006719438.3:c.1370T>C, XM_006719438.2:c.1370T>C, XM_006719438.1:c.1370T>C, XM_005268943.4:c.1370T>C, XM_005268943.3:c.1370T>C, XM_005268943.2:c.1370T>C, XM_005268943.1:c.1370T>C, XM_011538431.3:c.1370T>C, XM_011538431.2:c.1370T>C, XM_011538431.1:c.1370T>C, XM_017019390.3:c.1370T>C, XM_017019390.2:c.1370T>C, XM_017019390.1:c.1370T>C, NP_057207.2:p.Met457Thr, NP_001107654.1:p.Met457Thr, NP_001338267.1:p.Met333Thr, NP_001338270.1:p.Met333Thr, NP_001338274.1:p.Met457Thr, NP_001338268.1:p.Met333Thr, NP_001338269.1:p.Met333Thr, NP_001338272.1:p.Met254Thr, NP_001138728.1:p.Met333Thr, NP_001338271.1:p.Met333Thr, NP_001138729.1:p.Met333Thr, NP_001338273.1:p.Met254Thr, NP_001138730.1:p.Met333Thr, XP_005269001.1:p.Met457Thr, XP_005269002.1:p.Met457Thr, XP_006719501.1:p.Met457Thr, XP_005269000.1:p.Met457Thr, XP_011536733.1:p.Met457Thr, XP_016874879.1:p.Met457Thr

                                        20.

                                        rs1429128979 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          12:43783671 (GRCh38)
                                          12:44177474 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:43783670:G:T
                                          Gene:
                                          IRAK4 (Varview)
                                          Functional Consequence:
                                          stop_gained,coding_sequence_variant
                                          Clinical significance:
                                          pathogenic
                                          HGVS:
                                          NC_000012.12:g.43783671G>T, NC_000012.11:g.44177474G>T, NG_009892.1:g.29728G>T, NM_016123.4:c.1135G>T, NM_016123.3:c.1135G>T, NM_001114182.3:c.1135G>T, NM_001114182.2:c.1135G>T, NM_001351338.2:c.763G>T, NM_001351338.1:c.763G>T, NM_001351341.2:c.763G>T, NM_001351341.1:c.763G>T, NM_001351345.2:c.1135G>T, NM_001351345.1:c.1135G>T, NM_001351339.2:c.763G>T, NM_001351339.1:c.763G>T, NM_001351340.2:c.763G>T, NM_001351340.1:c.763G>T, NM_001351343.2:c.526G>T, NM_001351343.1:c.526G>T, NM_001145256.2:c.763G>T, NM_001145256.1:c.763G>T, NM_001351342.2:c.763G>T, NM_001351342.1:c.763G>T, NM_001145257.2:c.763G>T, NM_001145257.1:c.763G>T, NM_001351344.2:c.526G>T, NM_001351344.1:c.526G>T, NM_001145258.2:c.763G>T, NM_001145258.1:c.763G>T, XM_005268944.5:c.1135G>T, XM_005268944.4:c.1135G>T, XM_005268944.3:c.1135G>T, XM_005268944.2:c.1135G>T, XM_005268944.1:c.1135G>T, XM_005268945.5:c.1135G>T, XM_005268945.4:c.1135G>T, XM_005268945.3:c.1135G>T, XM_005268945.2:c.1135G>T, XM_005268945.1:c.1135G>T, XM_006719438.4:c.1135G>T, XM_006719438.3:c.1135G>T, XM_006719438.2:c.1135G>T, XM_006719438.1:c.1135G>T, XM_005268943.4:c.1135G>T, XM_005268943.3:c.1135G>T, XM_005268943.2:c.1135G>T, XM_005268943.1:c.1135G>T, XM_011538431.3:c.1135G>T, XM_011538431.2:c.1135G>T, XM_011538431.1:c.1135G>T, XM_017019390.3:c.1135G>T, XM_017019390.2:c.1135G>T, XM_017019390.1:c.1135G>T, NP_057207.2:p.Glu379Ter, NP_001107654.1:p.Glu379Ter, NP_001338267.1:p.Glu255Ter, NP_001338270.1:p.Glu255Ter, NP_001338274.1:p.Glu379Ter, NP_001338268.1:p.Glu255Ter, NP_001338269.1:p.Glu255Ter, NP_001338272.1:p.Glu176Ter, NP_001138728.1:p.Glu255Ter, NP_001338271.1:p.Glu255Ter, NP_001138729.1:p.Glu255Ter, NP_001338273.1:p.Glu176Ter, NP_001138730.1:p.Glu255Ter, XP_005269001.1:p.Glu379Ter, XP_005269002.1:p.Glu379Ter, XP_006719501.1:p.Glu379Ter, XP_005269000.1:p.Glu379Ter, XP_011536733.1:p.Glu379Ter, XP_016874879.1:p.Glu379Ter

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