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Items: 1 to 20 of 490

1.

rs1489207255 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:128948576 (GRCh38)
    7:128588630 (GRCh37)
    Canonical SPDI:
    NC_000007.14:128948575:G:A
    Gene:
    IRF5 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.00005/1 (ALFA)
    HGVS:
    NC_000007.14:g.128948576G>A, NC_000007.13:g.128588630G>A, NG_012306.2:g.16546G>A, NG_012306.1:g.15637G>A, NM_032643.5:c.1255G>A, NM_032643.4:c.1255G>A, NM_032643.3:c.1255G>A, NM_001098627.4:c.1255G>A, NM_001098627.3:c.1255G>A, NM_001098627.2:c.1255G>A, NM_001098629.3:c.1303G>A, NM_001098629.2:c.1303G>A, NM_001098629.1:c.1303G>A, NM_001098630.3:c.1255G>A, NM_001098630.2:c.1255G>A, NM_001098630.1:c.1255G>A, NM_001242452.3:c.997G>A, NM_001242452.2:c.997G>A, NM_001242452.1:c.997G>A, NM_001347928.2:c.1303G>A, NM_001347928.1:c.1303G>A, NM_001364314.2:c.1303G>A, NM_001364314.1:c.1303G>A, XM_011516159.4:c.1303G>A, XM_011516159.3:c.1303G>A, XM_011516159.2:c.1303G>A, XM_011516159.1:c.1303G>A, XM_011516158.4:c.1303G>A, XM_011516158.3:c.1303G>A, XM_011516158.2:c.1303G>A, XM_011516158.1:c.1303G>A, XM_006715974.3:c.1303G>A, XM_006715974.2:c.1303G>A, XM_006715974.1:c.1303G>A, NM_002200.3:c.1273G>A, XM_011516160.2:c.1303G>A, XM_011516160.1:c.1303G>A, NM_002200.2:c.1273G>A, XM_047420338.1:c.1255G>A, XM_047420336.1:c.1303G>A, XM_047420339.1:c.1255G>A, XM_047420337.1:c.1273G>A, XM_047420340.1:c.1225G>A, NM_001098631.1:c.1225G>A, NM_001098628.1:c.1225G>A, NM_002200.1:c.1273G>A, NP_116032.1:p.Val419Met, NP_001092097.2:p.Val419Met, NP_001092099.1:p.Val435Met, NP_001092100.1:p.Val419Met, NP_001229381.1:p.Val333Met, NP_001334857.1:p.Val435Met, NP_001351243.1:p.Val435Met, XP_011514461.1:p.Val435Met, XP_011514460.1:p.Val435Met, XP_006716037.1:p.Val435Met, XP_011514462.1:p.Val435Met, XP_047276294.1:p.Val419Met, XP_047276292.1:p.Val435Met, XP_047276295.1:p.Val419Met, XP_047276293.1:p.Val425Met, XP_047276296.1:p.Val409Met

    2.

    rs1487933683 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:128948686 (GRCh38)
      7:128588740 (GRCh37)
      Canonical SPDI:
      NC_000007.14:128948685:G:A
      Gene:
      IRF5 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000007.14:g.128948686G>A, NC_000007.13:g.128588740G>A, NG_012306.2:g.16656G>A, NG_012306.1:g.15747G>A, NM_032643.5:c.1365G>A, NM_032643.4:c.1365G>A, NM_032643.3:c.1365G>A, NM_001098627.4:c.1365G>A, NM_001098627.3:c.1365G>A, NM_001098627.2:c.1365G>A, NM_001098629.3:c.1413G>A, NM_001098629.2:c.1413G>A, NM_001098629.1:c.1413G>A, NM_001242452.3:c.1107G>A, NM_001242452.2:c.1107G>A, NM_001242452.1:c.1107G>A, NM_001098630.3:c.1365G>A, NM_001098630.2:c.1365G>A, NM_001098630.1:c.1365G>A, NM_001364314.2:c.1413G>A, NM_001364314.1:c.1413G>A, NM_001347928.2:c.1413G>A, NM_001347928.1:c.1413G>A, XM_011516159.4:c.1413G>A, XM_011516159.3:c.1413G>A, XM_011516159.2:c.1413G>A, XM_011516159.1:c.1413G>A, XM_011516158.4:c.1413G>A, XM_011516158.3:c.1413G>A, XM_011516158.2:c.1413G>A, XM_011516158.1:c.1413G>A, XM_006715974.3:c.1413G>A, XM_006715974.2:c.1413G>A, XM_006715974.1:c.1413G>A, NM_002200.3:c.1383G>A, XM_011516160.2:c.1413G>A, XM_011516160.1:c.1413G>A, NM_002200.2:c.1383G>A, XM_047420338.1:c.1365G>A, XM_047420336.1:c.1413G>A, XM_047420339.1:c.1365G>A, XM_047420337.1:c.1383G>A, XM_047420340.1:c.1335G>A, NM_001098631.1:c.1335G>A, NM_001098628.1:c.1335G>A, NM_002200.1:c.1383G>A

      3.

      rs1487008870 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        7:128946504 (GRCh38)
        7:128586558 (GRCh37)
        Canonical SPDI:
        NC_000007.14:128946503:C:A
        Gene:
        IRF5 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.128946504C>A, NC_000007.13:g.128586558C>A, NG_012306.2:g.14474C>A, NG_012306.1:g.13565C>A, NM_032643.5:c.389C>A, NM_032643.4:c.389C>A, NM_032643.3:c.389C>A, NM_001098627.4:c.389C>A, NM_001098627.3:c.389C>A, NM_001098627.2:c.389C>A, NM_001098629.3:c.389C>A, NM_001098629.2:c.389C>A, NM_001098629.1:c.389C>A, NM_001242452.3:c.389C>A, NM_001242452.2:c.389C>A, NM_001242452.1:c.389C>A, NM_001098630.3:c.389C>A, NM_001098630.2:c.389C>A, NM_001098630.1:c.389C>A, NM_001364314.2:c.389C>A, NM_001364314.1:c.389C>A, NM_001347928.2:c.389C>A, NM_001347928.1:c.389C>A, XM_011516159.4:c.389C>A, XM_011516159.3:c.389C>A, XM_011516159.2:c.389C>A, XM_011516159.1:c.389C>A, XM_011516158.4:c.389C>A, XM_011516158.3:c.389C>A, XM_011516158.2:c.389C>A, XM_011516158.1:c.389C>A, XM_006715974.3:c.389C>A, XM_006715974.2:c.389C>A, XM_006715974.1:c.389C>A, NM_002200.3:c.389C>A, XM_011516160.2:c.389C>A, XM_011516160.1:c.389C>A, NM_002200.2:c.389C>A, XM_047420338.1:c.389C>A, XM_047420336.1:c.389C>A, XM_047420339.1:c.389C>A, XM_047420337.1:c.389C>A, XM_047420340.1:c.389C>A, NM_001098631.1:c.389C>A, NM_001098628.1:c.389C>A, NM_002200.1:c.389C>A, NP_116032.1:p.Ser130Tyr, NP_001092097.2:p.Ser130Tyr, NP_001092099.1:p.Ser130Tyr, NP_001229381.1:p.Ser130Tyr, NP_001092100.1:p.Ser130Tyr, NP_001351243.1:p.Ser130Tyr, NP_001334857.1:p.Ser130Tyr, XP_011514461.1:p.Ser130Tyr, XP_011514460.1:p.Ser130Tyr, XP_006716037.1:p.Ser130Tyr, XP_011514462.1:p.Ser130Tyr, XP_047276294.1:p.Ser130Tyr, XP_047276292.1:p.Ser130Tyr, XP_047276295.1:p.Ser130Tyr, XP_047276293.1:p.Ser130Tyr, XP_047276296.1:p.Ser130Tyr

        4.

        rs1484834772 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          7:128948023 (GRCh38)
          7:128588077 (GRCh37)
          Canonical SPDI:
          NC_000007.14:128948022:T:A
          Gene:
          IRF5 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000007.14:g.128948023T>A, NC_000007.13:g.128588077T>A, NG_012306.2:g.15993T>A, NG_012306.1:g.15084T>A, NM_032643.5:c.1034T>A, NM_032643.4:c.1034T>A, NM_032643.3:c.1034T>A, NM_001098627.4:c.1034T>A, NM_001098627.3:c.1034T>A, NM_001098627.2:c.1034T>A, NM_001098629.3:c.1082T>A, NM_001098629.2:c.1082T>A, NM_001098629.1:c.1082T>A, NM_001098630.3:c.1034T>A, NM_001098630.2:c.1034T>A, NM_001098630.1:c.1034T>A, NM_001242452.3:c.776T>A, NM_001242452.2:c.776T>A, NM_001242452.1:c.776T>A, NM_001347928.2:c.1082T>A, NM_001347928.1:c.1082T>A, NM_001364314.2:c.1082T>A, NM_001364314.1:c.1082T>A, XM_011516159.4:c.1082T>A, XM_011516159.3:c.1082T>A, XM_011516159.2:c.1082T>A, XM_011516159.1:c.1082T>A, XM_011516158.4:c.1082T>A, XM_011516158.3:c.1082T>A, XM_011516158.2:c.1082T>A, XM_011516158.1:c.1082T>A, XM_006715974.3:c.1082T>A, XM_006715974.2:c.1082T>A, XM_006715974.1:c.1082T>A, NM_002200.3:c.1052T>A, XM_011516160.2:c.1082T>A, XM_011516160.1:c.1082T>A, NM_002200.2:c.1052T>A, XM_047420338.1:c.1034T>A, XM_047420336.1:c.1082T>A, XM_047420339.1:c.1034T>A, XM_047420337.1:c.1052T>A, XM_047420340.1:c.1004T>A, NM_001098631.1:c.1004T>A, NM_001098628.1:c.1004T>A, NM_002200.1:c.1052T>A, NP_116032.1:p.Phe345Tyr, NP_001092097.2:p.Phe345Tyr, NP_001092099.1:p.Phe361Tyr, NP_001092100.1:p.Phe345Tyr, NP_001229381.1:p.Phe259Tyr, NP_001334857.1:p.Phe361Tyr, NP_001351243.1:p.Phe361Tyr, XP_011514461.1:p.Phe361Tyr, XP_011514460.1:p.Phe361Tyr, XP_006716037.1:p.Phe361Tyr, XP_011514462.1:p.Phe361Tyr, XP_047276294.1:p.Phe345Tyr, XP_047276292.1:p.Phe361Tyr, XP_047276295.1:p.Phe345Tyr, XP_047276293.1:p.Phe351Tyr, XP_047276296.1:p.Phe335Tyr

          5.

          rs1481736894 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            7:128947275 (GRCh38)
            7:128587329 (GRCh37)
            Canonical SPDI:
            NC_000007.14:128947274:A:G
            Gene:
            IRF5 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            HGVS:
            NC_000007.14:g.128947275A>G, NC_000007.13:g.128587329A>G, NG_012306.2:g.15245A>G, NG_012306.1:g.14336A>G, NM_001098629.3:c.527A>G, NM_001098629.2:c.527A>G, NM_001098629.1:c.527A>G, NM_001364314.2:c.527A>G, NM_001364314.1:c.527A>G, NM_001347928.2:c.527A>G, NM_001347928.1:c.527A>G, XM_011516159.4:c.527A>G, XM_011516159.3:c.527A>G, XM_011516159.2:c.527A>G, XM_011516159.1:c.527A>G, XM_011516158.4:c.527A>G, XM_011516158.3:c.527A>G, XM_011516158.2:c.527A>G, XM_011516158.1:c.527A>G, XM_006715974.3:c.527A>G, XM_006715974.2:c.527A>G, XM_006715974.1:c.527A>G, NM_002200.3:c.527A>G, XM_011516160.2:c.527A>G, XM_011516160.1:c.527A>G, NM_002200.2:c.527A>G, XM_047420336.1:c.527A>G, XM_047420337.1:c.527A>G, NM_002200.1:c.527A>G, NP_001092099.1:p.Lys176Arg, NP_001351243.1:p.Lys176Arg, NP_001334857.1:p.Lys176Arg, XP_011514461.1:p.Lys176Arg, XP_011514460.1:p.Lys176Arg, XP_006716037.1:p.Lys176Arg, XP_011514462.1:p.Lys176Arg, XP_047276292.1:p.Lys176Arg, XP_047276293.1:p.Lys176Arg

            6.

            rs1480615573 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              7:128946020 (GRCh38)
              7:128586074 (GRCh37)
              Canonical SPDI:
              NC_000007.14:128946019:G:T
              Gene:
              IRF5 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              NC_000007.14:g.128946020G>T, NC_000007.13:g.128586074G>T, NG_012306.2:g.13990G>T, NG_012306.1:g.13081G>T, NM_032643.5:c.371G>T, NM_032643.4:c.371G>T, NM_032643.3:c.371G>T, NM_001098627.4:c.371G>T, NM_001098627.3:c.371G>T, NM_001098627.2:c.371G>T, NM_001098629.3:c.371G>T, NM_001098629.2:c.371G>T, NM_001098629.1:c.371G>T, NM_001098630.3:c.371G>T, NM_001098630.2:c.371G>T, NM_001098630.1:c.371G>T, NM_001242452.3:c.371G>T, NM_001242452.2:c.371G>T, NM_001242452.1:c.371G>T, NM_001347928.2:c.371G>T, NM_001347928.1:c.371G>T, NM_001364314.2:c.371G>T, NM_001364314.1:c.371G>T, XM_011516159.4:c.371G>T, XM_011516159.3:c.371G>T, XM_011516159.2:c.371G>T, XM_011516159.1:c.371G>T, XM_011516158.4:c.371G>T, XM_011516158.3:c.371G>T, XM_011516158.2:c.371G>T, XM_011516158.1:c.371G>T, XM_006715974.3:c.371G>T, XM_006715974.2:c.371G>T, XM_006715974.1:c.371G>T, NM_002200.3:c.371G>T, XM_011516160.2:c.371G>T, XM_011516160.1:c.371G>T, NM_002200.2:c.371G>T, XM_047420338.1:c.371G>T, XM_047420336.1:c.371G>T, XM_047420339.1:c.371G>T, XM_047420337.1:c.371G>T, XM_047420340.1:c.371G>T, NM_001098631.1:c.371G>T, NM_001098628.1:c.371G>T, NM_002200.1:c.371G>T, NP_116032.1:p.Gly124Val, NP_001092097.2:p.Gly124Val, NP_001092099.1:p.Gly124Val, NP_001092100.1:p.Gly124Val, NP_001229381.1:p.Gly124Val, NP_001334857.1:p.Gly124Val, NP_001351243.1:p.Gly124Val, XP_011514461.1:p.Gly124Val, XP_011514460.1:p.Gly124Val, XP_006716037.1:p.Gly124Val, XP_011514462.1:p.Gly124Val, XP_047276294.1:p.Gly124Val, XP_047276292.1:p.Gly124Val, XP_047276295.1:p.Gly124Val, XP_047276293.1:p.Gly124Val, XP_047276296.1:p.Gly124Val

              7.

              rs1480490893 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:128947961 (GRCh38)
                7:128588015 (GRCh37)
                Canonical SPDI:
                NC_000007.14:128947960:G:A
                Gene:
                IRF5 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000007.14:g.128947961G>A, NC_000007.13:g.128588015G>A, NG_012306.2:g.15931G>A, NG_012306.1:g.15022G>A, NM_032643.5:c.972G>A, NM_032643.4:c.972G>A, NM_032643.3:c.972G>A, NM_001098627.4:c.972G>A, NM_001098627.3:c.972G>A, NM_001098627.2:c.972G>A, NM_001098629.3:c.1020G>A, NM_001098629.2:c.1020G>A, NM_001098629.1:c.1020G>A, NM_001242452.3:c.714G>A, NM_001242452.2:c.714G>A, NM_001242452.1:c.714G>A, NM_001098630.3:c.972G>A, NM_001098630.2:c.972G>A, NM_001098630.1:c.972G>A, NM_001364314.2:c.1020G>A, NM_001364314.1:c.1020G>A, NM_001347928.2:c.1020G>A, NM_001347928.1:c.1020G>A, XM_011516159.4:c.1020G>A, XM_011516159.3:c.1020G>A, XM_011516159.2:c.1020G>A, XM_011516159.1:c.1020G>A, XM_011516158.4:c.1020G>A, XM_011516158.3:c.1020G>A, XM_011516158.2:c.1020G>A, XM_011516158.1:c.1020G>A, XM_006715974.3:c.1020G>A, XM_006715974.2:c.1020G>A, XM_006715974.1:c.1020G>A, NM_002200.3:c.990G>A, XM_011516160.2:c.1020G>A, XM_011516160.1:c.1020G>A, NM_002200.2:c.990G>A, XM_047420338.1:c.972G>A, XM_047420336.1:c.1020G>A, XM_047420339.1:c.972G>A, XM_047420337.1:c.990G>A, XM_047420340.1:c.942G>A, NM_001098631.1:c.942G>A, NM_001098628.1:c.942G>A, NM_002200.1:c.990G>A

                8.

                rs1479147924 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  7:128947770 (GRCh38)
                  7:128587824 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:128947769:CCCC:CCC
                  Gene:
                  IRF5 (Varview)
                  Functional Consequence:
                  frameshift_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CCC=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000007.14:g.128947773del, NC_000007.13:g.128587827del, NG_012306.2:g.15743del, NG_012306.1:g.14834del, NM_032643.5:c.784del, NM_032643.4:c.784del, NM_032643.3:c.784del, NM_001098627.4:c.784del, NM_001098627.3:c.784del, NM_001098627.2:c.784del, NM_001098629.3:c.832del, NM_001098629.2:c.832del, NM_001098629.1:c.832del, NM_001242452.3:c.526del, NM_001242452.2:c.526del, NM_001242452.1:c.526del, NM_001098630.3:c.784del, NM_001098630.2:c.784del, NM_001098630.1:c.784del, NM_001364314.2:c.832del, NM_001364314.1:c.832del, NM_001347928.2:c.832del, NM_001347928.1:c.832del, XM_011516159.4:c.832del, XM_011516159.3:c.832del, XM_011516159.2:c.832del, XM_011516159.1:c.832del, XM_011516158.4:c.832del, XM_011516158.3:c.832del, XM_011516158.2:c.832del, XM_011516158.1:c.832del, XM_006715974.3:c.832del, XM_006715974.2:c.832del, XM_006715974.1:c.832del, NM_002200.3:c.802del, XM_011516160.2:c.832del, XM_011516160.1:c.832del, NM_002200.2:c.802del, XM_047420338.1:c.784del, XM_047420336.1:c.832del, XM_047420339.1:c.784del, XM_047420337.1:c.802del, XM_047420340.1:c.754del, NM_001098631.1:c.754del, NM_001098628.1:c.754del, NM_002200.1:c.802del, NP_116032.1:p.Arg262fs, NP_001092097.2:p.Arg262fs, NP_001092099.1:p.Arg278fs, NP_001229381.1:p.Arg176fs, NP_001092100.1:p.Arg262fs, NP_001351243.1:p.Arg278fs, NP_001334857.1:p.Arg278fs, XP_011514461.1:p.Arg278fs, XP_011514460.1:p.Arg278fs, XP_006716037.1:p.Arg278fs, XP_011514462.1:p.Arg278fs, XP_047276294.1:p.Arg262fs, XP_047276292.1:p.Arg278fs, XP_047276295.1:p.Arg262fs, XP_047276293.1:p.Arg268fs, XP_047276296.1:p.Arg252fs

                  9.

                  rs1476834253 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:128947528 (GRCh38)
                    7:128587582 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:128947527:G:A
                    Gene:
                    IRF5 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by cluster
                    HGVS:
                    NC_000007.14:g.128947528G>A, NC_000007.13:g.128587582G>A, NG_012306.2:g.15498G>A, NG_012306.1:g.14589G>A, NM_032643.5:c.732G>A, NM_032643.4:c.732G>A, NM_032643.3:c.732G>A, NM_001098627.4:c.732G>A, NM_001098627.3:c.732G>A, NM_001098627.2:c.732G>A, NM_001098629.3:c.780G>A, NM_001098629.2:c.780G>A, NM_001098629.1:c.780G>A, NM_001098630.3:c.732G>A, NM_001098630.2:c.732G>A, NM_001098630.1:c.732G>A, NM_001347928.2:c.780G>A, NM_001347928.1:c.780G>A, NM_001364314.2:c.780G>A, NM_001364314.1:c.780G>A, XM_011516159.4:c.780G>A, XM_011516159.3:c.780G>A, XM_011516159.2:c.780G>A, XM_011516159.1:c.780G>A, XM_011516158.4:c.780G>A, XM_011516158.3:c.780G>A, XM_011516158.2:c.780G>A, XM_011516158.1:c.780G>A, XM_006715974.3:c.780G>A, XM_006715974.2:c.780G>A, XM_006715974.1:c.780G>A, NM_002200.3:c.750G>A, XM_011516160.2:c.780G>A, XM_011516160.1:c.780G>A, NM_002200.2:c.750G>A, XM_047420338.1:c.732G>A, XM_047420336.1:c.780G>A, XM_047420339.1:c.732G>A, XM_047420337.1:c.750G>A, XM_047420340.1:c.702G>A, NM_001098631.1:c.702G>A, NM_001098628.1:c.702G>A, NM_002200.1:c.750G>A, NP_116032.1:p.Met244Ile, NP_001092097.2:p.Met244Ile, NP_001092099.1:p.Met260Ile, NP_001092100.1:p.Met244Ile, NP_001334857.1:p.Met260Ile, NP_001351243.1:p.Met260Ile, XP_011514461.1:p.Met260Ile, XP_011514460.1:p.Met260Ile, XP_006716037.1:p.Met260Ile, XP_011514462.1:p.Met260Ile, XP_047276294.1:p.Met244Ile, XP_047276292.1:p.Met260Ile, XP_047276295.1:p.Met244Ile, XP_047276293.1:p.Met250Ile, XP_047276296.1:p.Met234Ile

                    10.

                    rs1472734719 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:128947872 (GRCh38)
                      7:128587926 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:128947871:G:A
                      Gene:
                      IRF5 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by cluster
                      HGVS:
                      NC_000007.14:g.128947872G>A, NC_000007.13:g.128587926G>A, NG_012306.2:g.15842G>A, NG_012306.1:g.14933G>A, NM_032643.5:c.883G>A, NM_032643.4:c.883G>A, NM_032643.3:c.883G>A, NM_001098627.4:c.883G>A, NM_001098627.3:c.883G>A, NM_001098627.2:c.883G>A, NM_001098629.3:c.931G>A, NM_001098629.2:c.931G>A, NM_001098629.1:c.931G>A, NM_001242452.3:c.625G>A, NM_001242452.2:c.625G>A, NM_001242452.1:c.625G>A, NM_001098630.3:c.883G>A, NM_001098630.2:c.883G>A, NM_001098630.1:c.883G>A, NM_001364314.2:c.931G>A, NM_001364314.1:c.931G>A, NM_001347928.2:c.931G>A, NM_001347928.1:c.931G>A, XM_011516159.4:c.931G>A, XM_011516159.3:c.931G>A, XM_011516159.2:c.931G>A, XM_011516159.1:c.931G>A, XM_011516158.4:c.931G>A, XM_011516158.3:c.931G>A, XM_011516158.2:c.931G>A, XM_011516158.1:c.931G>A, XM_006715974.3:c.931G>A, XM_006715974.2:c.931G>A, XM_006715974.1:c.931G>A, NM_002200.3:c.901G>A, XM_011516160.2:c.931G>A, XM_011516160.1:c.931G>A, NM_002200.2:c.901G>A, XM_047420338.1:c.883G>A, XM_047420336.1:c.931G>A, XM_047420339.1:c.883G>A, XM_047420337.1:c.901G>A, XM_047420340.1:c.853G>A, NM_001098631.1:c.853G>A, NM_001098628.1:c.853G>A, NM_002200.1:c.901G>A, NP_116032.1:p.Glu295Lys, NP_001092097.2:p.Glu295Lys, NP_001092099.1:p.Glu311Lys, NP_001229381.1:p.Glu209Lys, NP_001092100.1:p.Glu295Lys, NP_001351243.1:p.Glu311Lys, NP_001334857.1:p.Glu311Lys, XP_011514461.1:p.Glu311Lys, XP_011514460.1:p.Glu311Lys, XP_006716037.1:p.Glu311Lys, XP_011514462.1:p.Glu311Lys, XP_047276294.1:p.Glu295Lys, XP_047276292.1:p.Glu311Lys, XP_047276295.1:p.Glu295Lys, XP_047276293.1:p.Glu301Lys, XP_047276296.1:p.Glu285Lys

                      11.

                      rs1471165643 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:128948723 (GRCh38)
                        7:128588777 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:128948722:C:T
                        Gene:
                        IRF5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.0002/1 (ALFA)
                        T=0.0002/1 (Estonian)
                        HGVS:
                        NC_000007.14:g.128948723C>T, NC_000007.13:g.128588777C>T, NG_012306.2:g.16693C>T, NG_012306.1:g.15784C>T, NM_032643.5:c.1402C>T, NM_032643.4:c.1402C>T, NM_032643.3:c.1402C>T, NM_001098627.4:c.1402C>T, NM_001098627.3:c.1402C>T, NM_001098627.2:c.1402C>T, NM_001098629.3:c.1450C>T, NM_001098629.2:c.1450C>T, NM_001098629.1:c.1450C>T, NM_001098630.3:c.1402C>T, NM_001098630.2:c.1402C>T, NM_001098630.1:c.1402C>T, NM_001242452.3:c.1144C>T, NM_001242452.2:c.1144C>T, NM_001242452.1:c.1144C>T, NM_001347928.2:c.1450C>T, NM_001347928.1:c.1450C>T, NM_001364314.2:c.1450C>T, NM_001364314.1:c.1450C>T, XM_011516159.4:c.1450C>T, XM_011516159.3:c.1450C>T, XM_011516159.2:c.1450C>T, XM_011516159.1:c.1450C>T, XM_011516158.4:c.1450C>T, XM_011516158.3:c.1450C>T, XM_011516158.2:c.1450C>T, XM_011516158.1:c.1450C>T, XM_006715974.3:c.1450C>T, XM_006715974.2:c.1450C>T, XM_006715974.1:c.1450C>T, NM_002200.3:c.1420C>T, XM_011516160.2:c.1450C>T, XM_011516160.1:c.1450C>T, NM_002200.2:c.1420C>T, XM_047420338.1:c.1402C>T, XM_047420336.1:c.1450C>T, XM_047420339.1:c.1402C>T, XM_047420337.1:c.1420C>T, XM_047420340.1:c.1372C>T, NM_001098631.1:c.1372C>T, NM_001098628.1:c.1372C>T, NM_002200.1:c.1420C>T, NP_116032.1:p.Gln468Ter, NP_001092097.2:p.Gln468Ter, NP_001092099.1:p.Gln484Ter, NP_001092100.1:p.Gln468Ter, NP_001229381.1:p.Gln382Ter, NP_001334857.1:p.Gln484Ter, NP_001351243.1:p.Gln484Ter, XP_011514461.1:p.Gln484Ter, XP_011514460.1:p.Gln484Ter, XP_006716037.1:p.Gln484Ter, XP_011514462.1:p.Gln484Ter, XP_047276294.1:p.Gln468Ter, XP_047276292.1:p.Gln484Ter, XP_047276295.1:p.Gln468Ter, XP_047276293.1:p.Gln474Ter, XP_047276296.1:p.Gln458Ter

                        12.

                        rs1470509293 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:128942101 (GRCh38)
                          7:128582155 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:128942100:T:C
                          Gene:
                          IRF5 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.128942101T>C, NC_000007.13:g.128582155T>C, NG_012306.2:g.10071T>C, NG_012306.1:g.9162T>C, NM_032643.5:c.20T>C, NM_032643.4:c.20T>C, NM_032643.3:c.20T>C, NM_001098627.4:c.20T>C, NM_001098627.3:c.20T>C, NM_001098627.2:c.20T>C, NM_001098629.3:c.20T>C, NM_001098629.2:c.20T>C, NM_001098629.1:c.20T>C, NM_001098630.3:c.20T>C, NM_001098630.2:c.20T>C, NM_001098630.1:c.20T>C, NM_001242452.3:c.20T>C, NM_001242452.2:c.20T>C, NM_001242452.1:c.20T>C, NM_001347928.2:c.20T>C, NM_001347928.1:c.20T>C, NM_001364314.2:c.20T>C, NM_001364314.1:c.20T>C, XM_011516159.4:c.20T>C, XM_011516159.3:c.20T>C, XM_011516159.2:c.20T>C, XM_011516159.1:c.20T>C, XM_011516158.4:c.20T>C, XM_011516158.3:c.20T>C, XM_011516158.2:c.20T>C, XM_011516158.1:c.20T>C, XM_006715974.3:c.20T>C, XM_006715974.2:c.20T>C, XM_006715974.1:c.20T>C, NM_002200.3:c.20T>C, XM_011516160.2:c.20T>C, XM_011516160.1:c.20T>C, NM_002200.2:c.20T>C, XM_047420338.1:c.20T>C, XM_047420336.1:c.20T>C, XM_047420339.1:c.20T>C, XM_047420337.1:c.20T>C, XM_047420340.1:c.20T>C, NM_001098631.1:c.20T>C, NM_001098628.1:c.20T>C, NM_002200.1:c.20T>C, NP_116032.1:p.Val7Ala, NP_001092097.2:p.Val7Ala, NP_001092099.1:p.Val7Ala, NP_001092100.1:p.Val7Ala, NP_001229381.1:p.Val7Ala, NP_001334857.1:p.Val7Ala, NP_001351243.1:p.Val7Ala, XP_011514461.1:p.Val7Ala, XP_011514460.1:p.Val7Ala, XP_006716037.1:p.Val7Ala, XP_011514462.1:p.Val7Ala, XP_047276294.1:p.Val7Ala, XP_047276292.1:p.Val7Ala, XP_047276295.1:p.Val7Ala, XP_047276293.1:p.Val7Ala, XP_047276296.1:p.Val7Ala

                          13.

                          rs1468813112 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:128946523 (GRCh38)
                            7:128586577 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:128946522:C:T
                            Gene:
                            IRF5 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.128946523C>T, NC_000007.13:g.128586577C>T, NG_012306.2:g.14493C>T, NG_012306.1:g.13584C>T, NM_032643.5:c.408C>T, NM_032643.4:c.408C>T, NM_032643.3:c.408C>T, NM_001098627.4:c.408C>T, NM_001098627.3:c.408C>T, NM_001098627.2:c.408C>T, NM_001098629.3:c.408C>T, NM_001098629.2:c.408C>T, NM_001098629.1:c.408C>T, NM_001098630.3:c.408C>T, NM_001098630.2:c.408C>T, NM_001098630.1:c.408C>T, NM_001242452.3:c.408C>T, NM_001242452.2:c.408C>T, NM_001242452.1:c.408C>T, NM_001347928.2:c.408C>T, NM_001347928.1:c.408C>T, NM_001364314.2:c.408C>T, NM_001364314.1:c.408C>T, XM_011516159.4:c.408C>T, XM_011516159.3:c.408C>T, XM_011516159.2:c.408C>T, XM_011516159.1:c.408C>T, XM_011516158.4:c.408C>T, XM_011516158.3:c.408C>T, XM_011516158.2:c.408C>T, XM_011516158.1:c.408C>T, XM_006715974.3:c.408C>T, XM_006715974.2:c.408C>T, XM_006715974.1:c.408C>T, NM_002200.3:c.408C>T, XM_011516160.2:c.408C>T, XM_011516160.1:c.408C>T, NM_002200.2:c.408C>T, XM_047420338.1:c.408C>T, XM_047420336.1:c.408C>T, XM_047420339.1:c.408C>T, XM_047420337.1:c.408C>T, XM_047420340.1:c.408C>T, NM_001098631.1:c.408C>T, NM_001098628.1:c.408C>T, NM_002200.1:c.408C>T

                            14.

                            rs1468801017 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              7:128947414 (GRCh38)
                              7:128587468 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:128947413:C:A
                              Gene:
                              IRF5 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000007.14:g.128947414C>A, NC_000007.13:g.128587468C>A, NG_012306.2:g.15384C>A, NG_012306.1:g.14475C>A, NM_032643.5:c.618C>A, NM_032643.4:c.618C>A, NM_032643.3:c.618C>A, NM_001098627.4:c.618C>A, NM_001098627.3:c.618C>A, NM_001098627.2:c.618C>A, NM_001098629.3:c.666C>A, NM_001098629.2:c.666C>A, NM_001098629.1:c.666C>A, NM_001098630.3:c.618C>A, NM_001098630.2:c.618C>A, NM_001098630.1:c.618C>A, NM_001347928.2:c.666C>A, NM_001347928.1:c.666C>A, NM_001364314.2:c.666C>A, NM_001364314.1:c.666C>A, XM_011516159.4:c.666C>A, XM_011516159.3:c.666C>A, XM_011516159.2:c.666C>A, XM_011516159.1:c.666C>A, XM_011516158.4:c.666C>A, XM_011516158.3:c.666C>A, XM_011516158.2:c.666C>A, XM_011516158.1:c.666C>A, XM_006715974.3:c.666C>A, XM_006715974.2:c.666C>A, XM_006715974.1:c.666C>A, NM_002200.3:c.636C>A, XM_011516160.2:c.666C>A, XM_011516160.1:c.666C>A, NM_002200.2:c.636C>A, XM_047420338.1:c.618C>A, XM_047420336.1:c.666C>A, XM_047420339.1:c.618C>A, XM_047420337.1:c.636C>A, XM_047420340.1:c.588C>A, NM_001098631.1:c.588C>A, NM_001098628.1:c.588C>A, NM_002200.1:c.636C>A, NP_116032.1:p.Asn206Lys, NP_001092097.2:p.Asn206Lys, NP_001092099.1:p.Asn222Lys, NP_001092100.1:p.Asn206Lys, NP_001334857.1:p.Asn222Lys, NP_001351243.1:p.Asn222Lys, XP_011514461.1:p.Asn222Lys, XP_011514460.1:p.Asn222Lys, XP_006716037.1:p.Asn222Lys, XP_011514462.1:p.Asn222Lys, XP_047276294.1:p.Asn206Lys, XP_047276292.1:p.Asn222Lys, XP_047276295.1:p.Asn206Lys, XP_047276293.1:p.Asn212Lys, XP_047276296.1:p.Asn196Lys

                              15.

                              rs1467820609 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                7:128947924 (GRCh38)
                                7:128587978 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:128947923:T:G
                                Gene:
                                IRF5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                NC_000007.14:g.128947924T>G, NC_000007.13:g.128587978T>G, NG_012306.2:g.15894T>G, NG_012306.1:g.14985T>G, NM_032643.5:c.935T>G, NM_032643.4:c.935T>G, NM_032643.3:c.935T>G, NM_001098627.4:c.935T>G, NM_001098627.3:c.935T>G, NM_001098627.2:c.935T>G, NM_001098629.3:c.983T>G, NM_001098629.2:c.983T>G, NM_001098629.1:c.983T>G, NM_001242452.3:c.677T>G, NM_001242452.2:c.677T>G, NM_001242452.1:c.677T>G, NM_001098630.3:c.935T>G, NM_001098630.2:c.935T>G, NM_001098630.1:c.935T>G, NM_001364314.2:c.983T>G, NM_001364314.1:c.983T>G, NM_001347928.2:c.983T>G, NM_001347928.1:c.983T>G, XM_011516159.4:c.983T>G, XM_011516159.3:c.983T>G, XM_011516159.2:c.983T>G, XM_011516159.1:c.983T>G, XM_011516158.4:c.983T>G, XM_011516158.3:c.983T>G, XM_011516158.2:c.983T>G, XM_011516158.1:c.983T>G, XM_006715974.3:c.983T>G, XM_006715974.2:c.983T>G, XM_006715974.1:c.983T>G, NM_002200.3:c.953T>G, XM_011516160.2:c.983T>G, XM_011516160.1:c.983T>G, NM_002200.2:c.953T>G, XM_047420338.1:c.935T>G, XM_047420336.1:c.983T>G, XM_047420339.1:c.935T>G, XM_047420337.1:c.953T>G, XM_047420340.1:c.905T>G, NM_001098631.1:c.905T>G, NM_001098628.1:c.905T>G, NM_002200.1:c.953T>G, NP_116032.1:p.Phe312Cys, NP_001092097.2:p.Phe312Cys, NP_001092099.1:p.Phe328Cys, NP_001229381.1:p.Phe226Cys, NP_001092100.1:p.Phe312Cys, NP_001351243.1:p.Phe328Cys, NP_001334857.1:p.Phe328Cys, XP_011514461.1:p.Phe328Cys, XP_011514460.1:p.Phe328Cys, XP_006716037.1:p.Phe328Cys, XP_011514462.1:p.Phe328Cys, XP_047276294.1:p.Phe312Cys, XP_047276292.1:p.Phe328Cys, XP_047276295.1:p.Phe312Cys, XP_047276293.1:p.Phe318Cys, XP_047276296.1:p.Phe302Cys

                                16.

                                rs1467280890 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  7:128948217 (GRCh38)
                                  7:128588271 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:128948216:C:A
                                  Gene:
                                  IRF5 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000007.14:g.128948217C>A, NC_000007.13:g.128588271C>A, NG_012306.2:g.16187C>A, NG_012306.1:g.15278C>A, NM_032643.5:c.1140C>A, NM_032643.4:c.1140C>A, NM_032643.3:c.1140C>A, NM_001098627.4:c.1140C>A, NM_001098627.3:c.1140C>A, NM_001098627.2:c.1140C>A, NM_001098629.3:c.1188C>A, NM_001098629.2:c.1188C>A, NM_001098629.1:c.1188C>A, NM_001098630.3:c.1140C>A, NM_001098630.2:c.1140C>A, NM_001098630.1:c.1140C>A, NM_001242452.3:c.882C>A, NM_001242452.2:c.882C>A, NM_001242452.1:c.882C>A, NM_001347928.2:c.1188C>A, NM_001347928.1:c.1188C>A, NM_001364314.2:c.1188C>A, NM_001364314.1:c.1188C>A, XM_011516159.4:c.1188C>A, XM_011516159.3:c.1188C>A, XM_011516159.2:c.1188C>A, XM_011516159.1:c.1188C>A, XM_011516158.4:c.1188C>A, XM_011516158.3:c.1188C>A, XM_011516158.2:c.1188C>A, XM_011516158.1:c.1188C>A, XM_006715974.3:c.1188C>A, XM_006715974.2:c.1188C>A, XM_006715974.1:c.1188C>A, NM_002200.3:c.1158C>A, XM_011516160.2:c.1188C>A, XM_011516160.1:c.1188C>A, NM_002200.2:c.1158C>A, XM_047420338.1:c.1140C>A, XM_047420336.1:c.1188C>A, XM_047420339.1:c.1140C>A, XM_047420337.1:c.1158C>A, XM_047420340.1:c.1110C>A, NM_001098631.1:c.1110C>A, NM_001098628.1:c.1110C>A, NM_002200.1:c.1158C>A

                                  17.

                                  rs1467003035 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    7:128947326 (GRCh38)
                                    7:128587380 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:128947325:C:A
                                    Gene:
                                    IRF5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,intron_variant,splice_acceptor_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    NC_000007.14:g.128947326C>A, NC_000007.13:g.128587380C>A, NG_012306.2:g.15296C>A, NG_012306.1:g.14387C>A, NM_032643.5:c.530C>A, NM_032643.4:c.530C>A, NM_032643.3:c.530C>A, NM_001098627.4:c.530C>A, NM_001098627.3:c.530C>A, NM_001098627.2:c.530C>A, NM_001098629.3:c.578C>A, NM_001098629.2:c.578C>A, NM_001098629.1:c.578C>A, NM_001098630.3:c.530C>A, NM_001098630.2:c.530C>A, NM_001098630.1:c.530C>A, NM_001347928.2:c.578C>A, NM_001347928.1:c.578C>A, NM_001364314.2:c.578C>A, NM_001364314.1:c.578C>A, XM_011516159.4:c.578C>A, XM_011516159.3:c.578C>A, XM_011516159.2:c.578C>A, XM_011516159.1:c.578C>A, XM_011516158.4:c.578C>A, XM_011516158.3:c.578C>A, XM_011516158.2:c.578C>A, XM_011516158.1:c.578C>A, XM_006715974.3:c.578C>A, XM_006715974.2:c.578C>A, XM_006715974.1:c.578C>A, NM_002200.3:c.548C>A, XM_011516160.2:c.578C>A, XM_011516160.1:c.578C>A, XM_047420338.1:c.530C>A, XM_047420336.1:c.578C>A, XM_047420339.1:c.530C>A, NP_116032.1:p.Pro177His, NP_001092097.2:p.Pro177His, NP_001092099.1:p.Pro193His, NP_001092100.1:p.Pro177His, NP_001334857.1:p.Pro193His, NP_001351243.1:p.Pro193His, XP_011514461.1:p.Pro193His, XP_011514460.1:p.Pro193His, XP_006716037.1:p.Pro193His, XP_011514462.1:p.Pro193His, XP_047276294.1:p.Pro177His, XP_047276292.1:p.Pro193His, XP_047276295.1:p.Pro177His

                                    18.

                                    rs1463737234 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:128948328 (GRCh38)
                                      7:128588382 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:128948327:G:A
                                      Gene:
                                      IRF5 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000007.14:g.128948328G>A, NC_000007.13:g.128588382G>A, NG_012306.2:g.16298G>A, NG_012306.1:g.15389G>A, NM_032643.5:c.1251G>A, NM_032643.4:c.1251G>A, NM_032643.3:c.1251G>A, NM_001098627.4:c.1251G>A, NM_001098627.3:c.1251G>A, NM_001098627.2:c.1251G>A, NM_001098629.3:c.1299G>A, NM_001098629.2:c.1299G>A, NM_001098629.1:c.1299G>A, NM_001242452.3:c.993G>A, NM_001242452.2:c.993G>A, NM_001242452.1:c.993G>A, NM_001098630.3:c.1251G>A, NM_001098630.2:c.1251G>A, NM_001098630.1:c.1251G>A, NM_001364314.2:c.1299G>A, NM_001364314.1:c.1299G>A, NM_001347928.2:c.1299G>A, NM_001347928.1:c.1299G>A, XM_011516159.4:c.1299G>A, XM_011516159.3:c.1299G>A, XM_011516159.2:c.1299G>A, XM_011516159.1:c.1299G>A, XM_011516158.4:c.1299G>A, XM_011516158.3:c.1299G>A, XM_011516158.2:c.1299G>A, XM_011516158.1:c.1299G>A, XM_006715974.3:c.1299G>A, XM_006715974.2:c.1299G>A, XM_006715974.1:c.1299G>A, NM_002200.3:c.1269G>A, XM_011516160.2:c.1299G>A, XM_011516160.1:c.1299G>A, NM_002200.2:c.1269G>A, XM_047420338.1:c.1251G>A, XM_047420336.1:c.1299G>A, XM_047420339.1:c.1251G>A, XM_047420337.1:c.1269G>A, XM_047420340.1:c.1221G>A, NM_001098631.1:c.1221G>A, NM_001098628.1:c.1221G>A, NM_002200.1:c.1269G>A

                                      19.

                                      rs1463580303 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:128947471 (GRCh38)
                                        7:128587525 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:128947470:C:T
                                        Gene:
                                        IRF5 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.128947471C>T, NC_000007.13:g.128587525C>T, NG_012306.2:g.15441C>T, NG_012306.1:g.14532C>T, NM_032643.5:c.675C>T, NM_032643.4:c.675C>T, NM_032643.3:c.675C>T, NM_001098627.4:c.675C>T, NM_001098627.3:c.675C>T, NM_001098627.2:c.675C>T, NM_001098629.3:c.723C>T, NM_001098629.2:c.723C>T, NM_001098629.1:c.723C>T, NM_001098630.3:c.675C>T, NM_001098630.2:c.675C>T, NM_001098630.1:c.675C>T, NM_001347928.2:c.723C>T, NM_001347928.1:c.723C>T, NM_001364314.2:c.723C>T, NM_001364314.1:c.723C>T, XM_011516159.4:c.723C>T, XM_011516159.3:c.723C>T, XM_011516159.2:c.723C>T, XM_011516159.1:c.723C>T, XM_011516158.4:c.723C>T, XM_011516158.3:c.723C>T, XM_011516158.2:c.723C>T, XM_011516158.1:c.723C>T, XM_006715974.3:c.723C>T, XM_006715974.2:c.723C>T, XM_006715974.1:c.723C>T, NM_002200.3:c.693C>T, XM_011516160.2:c.723C>T, XM_011516160.1:c.723C>T, NM_002200.2:c.693C>T, XM_047420338.1:c.675C>T, XM_047420336.1:c.723C>T, XM_047420339.1:c.675C>T, XM_047420337.1:c.693C>T, XM_047420340.1:c.645C>T, NM_001098631.1:c.645C>T, NM_001098628.1:c.645C>T, NM_002200.1:c.693C>T

                                        20.

                                        rs1463474463 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          7:128947405 (GRCh38)
                                          7:128587459 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:128947404:C:A
                                          Gene:
                                          IRF5 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000007.14:g.128947405C>A, NC_000007.13:g.128587459C>A, NG_012306.2:g.15375C>A, NG_012306.1:g.14466C>A, NM_032643.5:c.609C>A, NM_032643.4:c.609C>A, NM_032643.3:c.609C>A, NM_001098627.4:c.609C>A, NM_001098627.3:c.609C>A, NM_001098627.2:c.609C>A, NM_001098629.3:c.657C>A, NM_001098629.2:c.657C>A, NM_001098629.1:c.657C>A, NM_001098630.3:c.609C>A, NM_001098630.2:c.609C>A, NM_001098630.1:c.609C>A, NM_001364314.2:c.657C>A, NM_001364314.1:c.657C>A, NM_001347928.2:c.657C>A, NM_001347928.1:c.657C>A, XM_011516159.4:c.657C>A, XM_011516159.3:c.657C>A, XM_011516159.2:c.657C>A, XM_011516159.1:c.657C>A, XM_011516158.4:c.657C>A, XM_011516158.3:c.657C>A, XM_011516158.2:c.657C>A, XM_011516158.1:c.657C>A, XM_006715974.3:c.657C>A, XM_006715974.2:c.657C>A, XM_006715974.1:c.657C>A, NM_002200.3:c.627C>A, XM_011516160.2:c.657C>A, XM_011516160.1:c.657C>A, NM_002200.2:c.627C>A, XM_047420338.1:c.609C>A, XM_047420336.1:c.657C>A, XM_047420339.1:c.609C>A, XM_047420337.1:c.627C>A, XM_047420340.1:c.579C>A, NM_001098631.1:c.579C>A, NM_001098628.1:c.579C>A, NM_002200.1:c.627C>A

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