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Items: 1 to 20 of 466

1.

rs1490233820 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    Y:57191918 (GRCh38)
    Y:59338069 (GRCh37)
    Canonical SPDI:
    NC_000024.10:57191917:G:A
    Gene:
    IL9R (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000024.10:g.57191918G>A, NC_000024.9:g.59338069G>A, NG_013238.1:g.12818G>A, NM_002186.3:c.700G>A, NM_002186.2:c.700G>A, NM_176786.2:c.805G>A, NM_176786.1:c.805G>A, NC_000023.11:g.156005398G>A, NC_000023.10:g.155235063G>A, XM_011531155.3:c.841G>A, XM_011531155.2:c.841G>A, XM_011531155.1:c.841G>A, XM_011531151.3:c.841G>A, XM_011531151.2:c.841G>A, XM_011531151.1:c.841G>A, XM_011531152.3:c.817G>A, XM_011531152.2:c.817G>A, XM_011531152.1:c.817G>A, XM_011531157.3:c.841G>A, XM_011531157.2:c.841G>A, XM_011531157.1:c.841G>A, XM_011545650.3:c.841G>A, XM_011545650.2:c.841G>A, XM_011545650.1:c.841G>A, XM_011545646.3:c.817G>A, XM_011545646.2:c.817G>A, XM_011545646.1:c.817G>A, XM_011545652.3:c.841G>A, XM_011545652.2:c.841G>A, XM_011545652.1:c.841G>A, XM_017029495.2:c.838G>A, XM_017029495.1:c.838G>A, XM_011545645.3:c.841G>A, XM_011545645.2:c.841G>A, XM_011545645.1:c.841G>A, XM_017029502.2:c.295G>A, XM_017029502.1:c.295G>A, XM_017030044.2:c.838G>A, XM_017030044.1:c.838G>A, XM_017030051.2:c.295G>A, XM_017030051.1:c.295G>A, XM_047442094.1:c.817G>A, XM_047442092.1:c.709G>A, XM_047442093.1:c.838G>A, NR_024033.1:n.968G>A, XM_047442095.1:c.814G>A, XM_047442734.1:c.817G>A, XM_047442732.1:c.709G>A, XM_047442733.1:c.838G>A, XM_047442735.1:c.814G>A, NP_002177.2:p.Asp234Asn, NP_789743.2:p.Asp269Asn, XP_011543952.1:p.Asp281Asn, XP_011543948.1:p.Asp273Asn, XP_011543954.1:p.Asp281Asn, XP_011543947.1:p.Asp281Asn, XP_016885533.1:p.Asp280Asn, XP_016885540.1:p.Asp99Asn, XP_047298690.1:p.Asp273Asn, XP_047298688.1:p.Asp237Asn, XP_047298689.1:p.Asp280Asn, XP_047298691.1:p.Asp272Asn

    2.

    rs1488196813 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      Y:57189525 (GRCh38)
      Y:59335676 (GRCh37)
      Canonical SPDI:
      NC_000024.10:57189524:C:G
      Gene:
      IL9R (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000011/3 (TOPMED)
      HGVS:
      NC_000024.10:g.57189525C>G, NC_000024.9:g.59335676C>G, NG_013238.1:g.10425C>G, NM_002186.3:c.128C>G, NM_002186.2:c.128C>G, NM_176786.2:c.269C>G, NM_176786.1:c.269C>G, NC_000023.11:g.156003005C>G, NC_000023.10:g.155232670C>G, XM_011531155.3:c.269C>G, XM_011531155.2:c.269C>G, XM_011531155.1:c.269C>G, XM_011531151.3:c.269C>G, XM_011531151.2:c.269C>G, XM_011531151.1:c.269C>G, XM_011531152.3:c.245C>G, XM_011531152.2:c.245C>G, XM_011531152.1:c.245C>G, XM_011531157.3:c.269C>G, XM_011531157.2:c.269C>G, XM_011531157.1:c.269C>G, XM_011545650.3:c.269C>G, XM_011545650.2:c.269C>G, XM_011545650.1:c.269C>G, XM_011545646.3:c.245C>G, XM_011545646.2:c.245C>G, XM_011545646.1:c.245C>G, XM_011545652.3:c.269C>G, XM_011545652.2:c.269C>G, XM_011545652.1:c.269C>G, XM_017029495.2:c.269C>G, XM_017029495.1:c.269C>G, XM_011545645.3:c.269C>G, XM_011545645.2:c.269C>G, XM_011545645.1:c.269C>G, XM_017030044.2:c.269C>G, XM_017030044.1:c.269C>G, XM_047442094.1:c.245C>G, XM_047442092.1:c.137C>G, XM_047442093.1:c.269C>G, NR_024033.1:n.432C>G, XM_047442095.1:c.245C>G, XM_047442734.1:c.245C>G, XM_047442732.1:c.137C>G, XM_047442733.1:c.269C>G, XM_047442735.1:c.245C>G, NP_002177.2:p.Thr43Arg, NP_789743.2:p.Thr90Arg, XP_011543952.1:p.Thr90Arg, XP_011543948.1:p.Thr82Arg, XP_011543954.1:p.Thr90Arg, XP_011543947.1:p.Thr90Arg, XP_016885533.1:p.Thr90Arg, XP_047298690.1:p.Thr82Arg, XP_047298688.1:p.Thr46Arg, XP_047298689.1:p.Thr90Arg, XP_047298691.1:p.Thr82Arg

      3.

      rs1487252278 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        Y:57192665 (GRCh38)
        Y:59338816 (GRCh37)
        Canonical SPDI:
        NC_000024.10:57192664:C:T
        Gene:
        IL9R (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000024.10:g.57192665C>T, NC_000024.9:g.59338816C>T, NG_013238.1:g.13565C>T, NM_002186.3:c.844C>T, NM_002186.2:c.844C>T, NM_176786.2:c.949C>T, NM_176786.1:c.949C>T, NC_000023.11:g.156006145C>T, NC_000023.10:g.155235810C>T, XM_011531155.3:c.985C>T, XM_011531155.2:c.985C>T, XM_011531155.1:c.985C>T, XM_011531151.3:c.985C>T, XM_011531151.2:c.985C>T, XM_011531151.1:c.985C>T, XM_011531152.3:c.961C>T, XM_011531152.2:c.961C>T, XM_011531152.1:c.961C>T, XM_011531157.3:c.985C>T, XM_011531157.2:c.985C>T, XM_011531157.1:c.985C>T, XM_011545650.3:c.985C>T, XM_011545650.2:c.985C>T, XM_011545650.1:c.985C>T, XM_011545645.3:c.985C>T, XM_011545645.2:c.985C>T, XM_011545645.1:c.985C>T, XM_011545646.3:c.961C>T, XM_011545646.2:c.961C>T, XM_011545646.1:c.961C>T, XM_011545652.3:c.985C>T, XM_011545652.2:c.985C>T, XM_011545652.1:c.985C>T, XM_017029495.2:c.982C>T, XM_017029495.1:c.982C>T, XM_017029502.2:c.439C>T, XM_017029502.1:c.439C>T, XM_017030044.2:c.982C>T, XM_017030044.1:c.982C>T, XM_017030051.2:c.439C>T, XM_017030051.1:c.439C>T, XM_047442094.1:c.961C>T, XM_047442093.1:c.982C>T, XM_047442095.1:c.958C>T, XM_047442092.1:c.853C>T, NR_024033.1:n.1112C>T, XM_047442734.1:c.961C>T, XM_047442732.1:c.853C>T, XM_047442733.1:c.982C>T, XM_047442735.1:c.958C>T

        4.

        rs1482484892 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          Y:57190207 (GRCh38)
          Y:59336358 (GRCh37)
          Canonical SPDI:
          NC_000024.10:57190206:C:T
          Gene:
          IL9R (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000024.10:g.57190207C>T, NC_000024.9:g.59336358C>T, NG_013238.1:g.11107C>T, NM_002186.3:c.265C>T, NM_002186.2:c.265C>T, NM_176786.2:c.399C>T, NM_176786.1:c.399C>T, NC_000023.11:g.156003687C>T, NC_000023.10:g.155233352C>T, XM_011531155.3:c.406C>T, XM_011531155.2:c.406C>T, XM_011531155.1:c.406C>T, XM_011531151.3:c.406C>T, XM_011531151.2:c.406C>T, XM_011531151.1:c.406C>T, XM_011531152.3:c.382C>T, XM_011531152.2:c.382C>T, XM_011531152.1:c.382C>T, XM_011531157.3:c.406C>T, XM_011531157.2:c.406C>T, XM_011531157.1:c.406C>T, XM_011545650.3:c.406C>T, XM_011545650.2:c.406C>T, XM_011545650.1:c.406C>T, XM_011545646.3:c.382C>T, XM_011545646.2:c.382C>T, XM_011545646.1:c.382C>T, XM_011545652.3:c.406C>T, XM_011545652.2:c.406C>T, XM_011545652.1:c.406C>T, XM_017029495.2:c.406C>T, XM_017029495.1:c.406C>T, XM_011545645.3:c.406C>T, XM_011545645.2:c.406C>T, XM_011545645.1:c.406C>T, XM_017030044.2:c.406C>T, XM_017030044.1:c.406C>T, XM_047442094.1:c.382C>T, XM_047442092.1:c.274C>T, XM_047442093.1:c.406C>T, NR_024033.1:n.562C>T, XM_047442095.1:c.382C>T, XM_047442734.1:c.382C>T, XM_047442732.1:c.274C>T, XM_047442733.1:c.406C>T, XM_047442735.1:c.382C>T, NP_002177.2:p.Pro89Ser, XP_011543952.1:p.Pro136Ser, XP_011543948.1:p.Pro128Ser, XP_011543954.1:p.Pro136Ser, XP_011543947.1:p.Pro136Ser, XP_016885533.1:p.Pro136Ser, XP_047298690.1:p.Pro128Ser, XP_047298688.1:p.Pro92Ser, XP_047298689.1:p.Pro136Ser, XP_047298691.1:p.Pro128Ser

          5.

          rs1478784604 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            Y:57190980 (GRCh38)
            Y:59337131 (GRCh37)
            Canonical SPDI:
            NC_000024.10:57190979:T:C
            Gene:
            IL9R (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000024.10:g.57190980T>C, NC_000024.9:g.59337131T>C, NG_013238.1:g.11880T>C, NM_002186.3:c.474T>C, NM_002186.2:c.474T>C, NM_176786.2:c.579T>C, NM_176786.1:c.579T>C, NC_000023.11:g.156004460T>C, NC_000023.10:g.155234125T>C, XM_011531155.3:c.615T>C, XM_011531155.2:c.615T>C, XM_011531155.1:c.615T>C, XM_011531151.3:c.615T>C, XM_011531151.2:c.615T>C, XM_011531151.1:c.615T>C, XM_011531152.3:c.591T>C, XM_011531152.2:c.591T>C, XM_011531152.1:c.591T>C, XM_011531157.3:c.615T>C, XM_011531157.2:c.615T>C, XM_011531157.1:c.615T>C, XM_011545650.3:c.615T>C, XM_011545650.2:c.615T>C, XM_011545650.1:c.615T>C, XM_011545646.3:c.591T>C, XM_011545646.2:c.591T>C, XM_011545646.1:c.591T>C, XM_011545652.3:c.615T>C, XM_011545652.2:c.615T>C, XM_011545652.1:c.615T>C, XM_017029495.2:c.615T>C, XM_017029495.1:c.615T>C, XM_011545645.3:c.615T>C, XM_011545645.2:c.615T>C, XM_011545645.1:c.615T>C, XM_017029502.2:c.69T>C, XM_017029502.1:c.69T>C, XM_017030044.2:c.615T>C, XM_017030044.1:c.615T>C, XM_017030051.2:c.69T>C, XM_017030051.1:c.69T>C, XM_047442094.1:c.591T>C, XM_047442092.1:c.483T>C, XM_047442093.1:c.615T>C, NR_024033.1:n.742T>C, XM_047442095.1:c.591T>C, XM_047442734.1:c.591T>C, XM_047442732.1:c.483T>C, XM_047442733.1:c.615T>C, XM_047442735.1:c.591T>C

            6.

            rs1478755223 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              Y:57190035 (GRCh38)
              Y:59336186 (GRCh37)
              Canonical SPDI:
              NC_000024.10:57190034:C:A,NC_000024.10:57190034:C:T
              Gene:
              IL9R (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000024.10:g.57190035C>A, NC_000024.10:g.57190035C>T, NC_000024.9:g.59336186C>A, NC_000024.9:g.59336186C>T, NG_013238.1:g.10935C>A, NG_013238.1:g.10935C>T, NM_002186.3:c.209C>A, NM_002186.3:c.209C>T, NM_002186.2:c.209C>A, NM_002186.2:c.209C>T, NM_176786.2:c.350C>A, NM_176786.2:c.350C>T, NM_176786.1:c.350C>A, NM_176786.1:c.350C>T, NC_000023.11:g.156003515C>A, NC_000023.11:g.156003515C>T, NC_000023.10:g.155233180C>A, NC_000023.10:g.155233180C>T, XM_011531155.3:c.350C>A, XM_011531155.3:c.350C>T, XM_011531155.2:c.350C>A, XM_011531155.2:c.350C>T, XM_011531155.1:c.350C>A, XM_011531155.1:c.350C>T, XM_011531151.3:c.350C>A, XM_011531151.3:c.350C>T, XM_011531151.2:c.350C>A, XM_011531151.2:c.350C>T, XM_011531151.1:c.350C>A, XM_011531151.1:c.350C>T, XM_011531152.3:c.326C>A, XM_011531152.3:c.326C>T, XM_011531152.2:c.326C>A, XM_011531152.2:c.326C>T, XM_011531152.1:c.326C>A, XM_011531152.1:c.326C>T, XM_011531157.3:c.350C>A, XM_011531157.3:c.350C>T, XM_011531157.2:c.350C>A, XM_011531157.2:c.350C>T, XM_011531157.1:c.350C>A, XM_011531157.1:c.350C>T, XM_011545650.3:c.350C>A, XM_011545650.3:c.350C>T, XM_011545650.2:c.350C>A, XM_011545650.2:c.350C>T, XM_011545650.1:c.350C>A, XM_011545650.1:c.350C>T, XM_011545646.3:c.326C>A, XM_011545646.3:c.326C>T, XM_011545646.2:c.326C>A, XM_011545646.2:c.326C>T, XM_011545646.1:c.326C>A, XM_011545646.1:c.326C>T, XM_011545652.3:c.350C>A, XM_011545652.3:c.350C>T, XM_011545652.2:c.350C>A, XM_011545652.2:c.350C>T, XM_011545652.1:c.350C>A, XM_011545652.1:c.350C>T, XM_017029495.2:c.350C>A, XM_017029495.2:c.350C>T, XM_017029495.1:c.350C>A, XM_017029495.1:c.350C>T, XM_011545645.3:c.350C>A, XM_011545645.3:c.350C>T, XM_011545645.2:c.350C>A, XM_011545645.2:c.350C>T, XM_011545645.1:c.350C>A, XM_011545645.1:c.350C>T, XM_017030044.2:c.350C>A, XM_017030044.2:c.350C>T, XM_017030044.1:c.350C>A, XM_017030044.1:c.350C>T, XM_047442094.1:c.326C>A, XM_047442094.1:c.326C>T, XM_047442092.1:c.218C>A, XM_047442092.1:c.218C>T, XM_047442093.1:c.350C>A, XM_047442093.1:c.350C>T, NR_024033.1:n.513C>A, NR_024033.1:n.513C>T, XM_047442095.1:c.326C>A, XM_047442095.1:c.326C>T, XM_047442734.1:c.326C>A, XM_047442734.1:c.326C>T, XM_047442732.1:c.218C>A, XM_047442732.1:c.218C>T, XM_047442733.1:c.350C>A, XM_047442733.1:c.350C>T, XM_047442735.1:c.326C>A, XM_047442735.1:c.326C>T, NP_002177.2:p.Ala70Asp, NP_002177.2:p.Ala70Val, NP_789743.2:p.Ala117Asp, NP_789743.2:p.Ala117Val, XP_011543952.1:p.Ala117Asp, XP_011543952.1:p.Ala117Val, XP_011543948.1:p.Ala109Asp, XP_011543948.1:p.Ala109Val, XP_011543954.1:p.Ala117Asp, XP_011543954.1:p.Ala117Val, XP_011543947.1:p.Ala117Asp, XP_011543947.1:p.Ala117Val, XP_016885533.1:p.Ala117Asp, XP_016885533.1:p.Ala117Val, XP_047298690.1:p.Ala109Asp, XP_047298690.1:p.Ala109Val, XP_047298688.1:p.Ala73Asp, XP_047298688.1:p.Ala73Val, XP_047298689.1:p.Ala117Asp, XP_047298689.1:p.Ala117Val, XP_047298691.1:p.Ala109Asp, XP_047298691.1:p.Ala109Val

              7.

              rs1476498560 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                Y:57190270 (GRCh38)
                Y:59336421 (GRCh37)
                Canonical SPDI:
                NC_000024.10:57190269:G:T
                Gene:
                IL9R (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000019/5 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                NC_000024.10:g.57190270G>T, NC_000024.9:g.59336421G>T, NG_013238.1:g.11170G>T, NM_002186.3:c.328G>T, NM_002186.2:c.328G>T, NM_176786.2:c.462G>T, NM_176786.1:c.462G>T, NC_000023.11:g.156003750G>T, NC_000023.10:g.155233415G>T, XM_011531155.3:c.469G>T, XM_011531155.2:c.469G>T, XM_011531155.1:c.469G>T, XM_011531151.3:c.469G>T, XM_011531151.2:c.469G>T, XM_011531151.1:c.469G>T, XM_011531152.3:c.445G>T, XM_011531152.2:c.445G>T, XM_011531152.1:c.445G>T, XM_011531157.3:c.469G>T, XM_011531157.2:c.469G>T, XM_011531157.1:c.469G>T, XM_011545650.3:c.469G>T, XM_011545650.2:c.469G>T, XM_011545650.1:c.469G>T, XM_011545646.3:c.445G>T, XM_011545646.2:c.445G>T, XM_011545646.1:c.445G>T, XM_011545652.3:c.469G>T, XM_011545652.2:c.469G>T, XM_011545652.1:c.469G>T, XM_017029495.2:c.469G>T, XM_017029495.1:c.469G>T, XM_011545645.3:c.469G>T, XM_011545645.2:c.469G>T, XM_011545645.1:c.469G>T, XM_017030044.2:c.469G>T, XM_017030044.1:c.469G>T, XM_047442094.1:c.445G>T, XM_047442092.1:c.337G>T, XM_047442093.1:c.469G>T, NR_024033.1:n.625G>T, XM_047442095.1:c.445G>T, XM_047442734.1:c.445G>T, XM_047442732.1:c.337G>T, XM_047442733.1:c.469G>T, XM_047442735.1:c.445G>T, NP_002177.2:p.Ala110Ser, NP_789743.2:p.Arg154Ser, XP_011543952.1:p.Ala157Ser, XP_011543948.1:p.Ala149Ser, XP_011543954.1:p.Ala157Ser, XP_011543947.1:p.Ala157Ser, XP_016885533.1:p.Ala157Ser, XP_047298690.1:p.Ala149Ser, XP_047298688.1:p.Ala113Ser, XP_047298689.1:p.Ala157Ser, XP_047298691.1:p.Ala149Ser

                8.

                rs1472783768 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  Y:57190341 (GRCh38)
                  Y:59336492 (GRCh37)
                  Canonical SPDI:
                  NC_000024.10:57190340:C:A
                  Gene:
                  IL9R (Varview)
                  Functional Consequence:
                  coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_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_000024.10:g.57190341C>A, NC_000024.9:g.59336492C>A, NG_013238.1:g.11241C>A, NM_002186.3:c.399C>A, NM_002186.2:c.399C>A, NM_176786.2:c.533C>A, NM_176786.1:c.533C>A, NC_000023.11:g.156003821C>A, NC_000023.10:g.155233486C>A, XM_011531155.3:c.540C>A, XM_011531155.2:c.540C>A, XM_011531155.1:c.540C>A, XM_011531151.3:c.540C>A, XM_011531151.2:c.540C>A, XM_011531151.1:c.540C>A, XM_011531152.3:c.516C>A, XM_011531152.2:c.516C>A, XM_011531152.1:c.516C>A, XM_011531157.3:c.540C>A, XM_011531157.2:c.540C>A, XM_011531157.1:c.540C>A, XM_011545650.3:c.540C>A, XM_011545650.2:c.540C>A, XM_011545650.1:c.540C>A, XM_011545646.3:c.516C>A, XM_011545646.2:c.516C>A, XM_011545646.1:c.516C>A, XM_011545652.3:c.540C>A, XM_011545652.2:c.540C>A, XM_011545652.1:c.540C>A, XM_017029495.2:c.540C>A, XM_017029495.1:c.540C>A, XM_011545645.3:c.540C>A, XM_011545645.2:c.540C>A, XM_011545645.1:c.540C>A, XM_017030044.2:c.540C>A, XM_017030044.1:c.540C>A, XM_047442094.1:c.516C>A, XM_047442092.1:c.408C>A, XM_047442093.1:c.540C>A, NR_024033.1:n.696C>A, XM_047442095.1:c.516C>A, XM_047442734.1:c.516C>A, XM_047442732.1:c.408C>A, XM_047442733.1:c.540C>A, XM_047442735.1:c.516C>A, NP_002177.2:p.Ser133Arg, NP_789743.2:p.Ala178Asp, XP_011543952.1:p.Ser180Arg, XP_011543948.1:p.Ser172Arg, XP_011543954.1:p.Ser180Arg, XP_011543947.1:p.Ser180Arg, XP_016885533.1:p.Ser180Arg, XP_047298690.1:p.Ser172Arg, XP_047298688.1:p.Ser136Arg, XP_047298689.1:p.Ser180Arg, XP_047298691.1:p.Ser172Arg

                  9.

                  rs1468679324 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    Y:57190247 (GRCh38)
                    Y:59336398 (GRCh37)
                    Canonical SPDI:
                    NC_000024.10:57190246:G:T
                    Gene:
                    IL9R (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000024.10:g.57190247G>T, NC_000024.9:g.59336398G>T, NG_013238.1:g.11147G>T, NM_002186.3:c.305G>T, NM_002186.2:c.305G>T, NM_176786.2:c.439G>T, NM_176786.1:c.439G>T, NC_000023.11:g.156003727G>T, NC_000023.10:g.155233392G>T, XM_011531155.3:c.446G>T, XM_011531155.2:c.446G>T, XM_011531155.1:c.446G>T, XM_011531151.3:c.446G>T, XM_011531151.2:c.446G>T, XM_011531151.1:c.446G>T, XM_011531152.3:c.422G>T, XM_011531152.2:c.422G>T, XM_011531152.1:c.422G>T, XM_011531157.3:c.446G>T, XM_011531157.2:c.446G>T, XM_011531157.1:c.446G>T, XM_011545650.3:c.446G>T, XM_011545650.2:c.446G>T, XM_011545650.1:c.446G>T, XM_011545646.3:c.422G>T, XM_011545646.2:c.422G>T, XM_011545646.1:c.422G>T, XM_011545652.3:c.446G>T, XM_011545652.2:c.446G>T, XM_011545652.1:c.446G>T, XM_017029495.2:c.446G>T, XM_017029495.1:c.446G>T, XM_011545645.3:c.446G>T, XM_011545645.2:c.446G>T, XM_011545645.1:c.446G>T, XM_017030044.2:c.446G>T, XM_017030044.1:c.446G>T, XM_047442094.1:c.422G>T, XM_047442092.1:c.314G>T, XM_047442093.1:c.446G>T, NR_024033.1:n.602G>T, XM_047442095.1:c.422G>T, XM_047442734.1:c.422G>T, XM_047442732.1:c.314G>T, XM_047442733.1:c.446G>T, XM_047442735.1:c.422G>T, NP_002177.2:p.Cys102Phe, NP_789743.2:p.Ala147Ser, XP_011543952.1:p.Cys149Phe, XP_011543948.1:p.Cys141Phe, XP_011543954.1:p.Cys149Phe, XP_011543947.1:p.Cys149Phe, XP_016885533.1:p.Cys149Phe, XP_047298690.1:p.Cys141Phe, XP_047298688.1:p.Cys105Phe, XP_047298689.1:p.Cys149Phe, XP_047298691.1:p.Cys141Phe

                    10.

                    rs1466124210 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      Y:57190307 (GRCh38)
                      Y:59336458 (GRCh37)
                      Canonical SPDI:
                      NC_000024.10:57190306:T:C
                      Gene:
                      IL9R (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000024.10:g.57190307T>C, NC_000024.9:g.59336458T>C, NG_013238.1:g.11207T>C, NM_002186.3:c.365T>C, NM_002186.2:c.365T>C, NM_176786.2:c.499T>C, NM_176786.1:c.499T>C, NC_000023.11:g.156003787T>C, NC_000023.10:g.155233452T>C, XM_011531155.3:c.506T>C, XM_011531155.2:c.506T>C, XM_011531155.1:c.506T>C, XM_011531151.3:c.506T>C, XM_011531151.2:c.506T>C, XM_011531151.1:c.506T>C, XM_011531152.3:c.482T>C, XM_011531152.2:c.482T>C, XM_011531152.1:c.482T>C, XM_011531157.3:c.506T>C, XM_011531157.2:c.506T>C, XM_011531157.1:c.506T>C, XM_011545650.3:c.506T>C, XM_011545650.2:c.506T>C, XM_011545650.1:c.506T>C, XM_011545646.3:c.482T>C, XM_011545646.2:c.482T>C, XM_011545646.1:c.482T>C, XM_011545652.3:c.506T>C, XM_011545652.2:c.506T>C, XM_011545652.1:c.506T>C, XM_017029495.2:c.506T>C, XM_017029495.1:c.506T>C, XM_011545645.3:c.506T>C, XM_011545645.2:c.506T>C, XM_011545645.1:c.506T>C, XM_017030044.2:c.506T>C, XM_017030044.1:c.506T>C, XM_047442094.1:c.482T>C, XM_047442092.1:c.374T>C, XM_047442093.1:c.506T>C, NR_024033.1:n.662T>C, XM_047442095.1:c.482T>C, XM_047442734.1:c.482T>C, XM_047442732.1:c.374T>C, XM_047442733.1:c.506T>C, XM_047442735.1:c.482T>C, NP_002177.2:p.Phe122Ser, NP_789743.2:p.Ser167Pro, XP_011543952.1:p.Phe169Ser, XP_011543948.1:p.Phe161Ser, XP_011543954.1:p.Phe169Ser, XP_011543947.1:p.Phe169Ser, XP_016885533.1:p.Phe169Ser, XP_047298690.1:p.Phe161Ser, XP_047298688.1:p.Phe125Ser, XP_047298689.1:p.Phe169Ser, XP_047298691.1:p.Phe161Ser

                      11.

                      rs1464935148 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        Y:57192607 (GRCh38)
                        Y:59338758 (GRCh37)
                        Canonical SPDI:
                        NC_000024.10:57192606:T:C
                        Gene:
                        IL9R (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.0002/1 (ALFA)
                        HGVS:
                        NC_000024.10:g.57192607T>C, NC_000024.9:g.59338758T>C, NG_013238.1:g.13507T>C, NM_002186.3:c.786T>C, NM_002186.2:c.786T>C, NM_176786.2:c.891T>C, NM_176786.1:c.891T>C, NC_000023.11:g.156006087T>C, NC_000023.10:g.155235752T>C, XM_011531155.3:c.927T>C, XM_011531155.2:c.927T>C, XM_011531155.1:c.927T>C, XM_011531151.3:c.927T>C, XM_011531151.2:c.927T>C, XM_011531151.1:c.927T>C, XM_011531152.3:c.903T>C, XM_011531152.2:c.903T>C, XM_011531152.1:c.903T>C, XM_011531157.3:c.927T>C, XM_011531157.2:c.927T>C, XM_011531157.1:c.927T>C, XM_011545650.3:c.927T>C, XM_011545650.2:c.927T>C, XM_011545650.1:c.927T>C, XM_011545645.3:c.927T>C, XM_011545645.2:c.927T>C, XM_011545645.1:c.927T>C, XM_011545646.3:c.903T>C, XM_011545646.2:c.903T>C, XM_011545646.1:c.903T>C, XM_011545652.3:c.927T>C, XM_011545652.2:c.927T>C, XM_011545652.1:c.927T>C, XM_017029495.2:c.924T>C, XM_017029495.1:c.924T>C, XM_017029502.2:c.381T>C, XM_017029502.1:c.381T>C, XM_017030044.2:c.924T>C, XM_017030044.1:c.924T>C, XM_017030051.2:c.381T>C, XM_017030051.1:c.381T>C, XM_047442094.1:c.903T>C, XM_047442093.1:c.924T>C, XM_047442095.1:c.900T>C, NR_024033.1:n.1054T>C, XM_047442092.1:c.795T>C, XM_047442734.1:c.903T>C, XM_047442732.1:c.795T>C, XM_047442733.1:c.924T>C, XM_047442735.1:c.900T>C

                        12.

                        rs1464146358 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          Y:57187949 (GRCh38)
                          Y:59334100 (GRCh37)
                          Canonical SPDI:
                          NC_000024.10:57187948:G:A,NC_000024.10:57187948:G:C
                          Gene:
                          IL9R (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000024.10:g.57187949G>A, NC_000024.10:g.57187949G>C, NC_000024.9:g.59334100G>A, NC_000024.9:g.59334100G>C, NG_013238.1:g.8849G>A, NG_013238.1:g.8849G>C, NM_176786.2:c.66G>A, NM_176786.2:c.66G>C, NM_176786.1:c.66G>A, NM_176786.1:c.66G>C, NC_000023.11:g.156001429G>A, NC_000023.11:g.156001429G>C, NC_000023.10:g.155231094G>A, NC_000023.10:g.155231094G>C, XM_011531155.3:c.66G>A, XM_011531155.3:c.66G>C, XM_011531155.2:c.66G>A, XM_011531155.2:c.66G>C, XM_011531155.1:c.66G>A, XM_011531155.1:c.66G>C, XM_011531151.3:c.66G>A, XM_011531151.3:c.66G>C, XM_011531151.2:c.66G>A, XM_011531151.2:c.66G>C, XM_011531151.1:c.66G>A, XM_011531151.1:c.66G>C, XM_011531152.3:c.66G>A, XM_011531152.3:c.66G>C, XM_011531152.2:c.66G>A, XM_011531152.2:c.66G>C, XM_011531152.1:c.66G>A, XM_011531152.1:c.66G>C, XM_011531157.3:c.66G>A, XM_011531157.3:c.66G>C, XM_011531157.2:c.66G>A, XM_011531157.2:c.66G>C, XM_011531157.1:c.66G>A, XM_011531157.1:c.66G>C, XM_011545650.3:c.66G>A, XM_011545650.3:c.66G>C, XM_011545650.2:c.66G>A, XM_011545650.2:c.66G>C, XM_011545650.1:c.66G>A, XM_011545650.1:c.66G>C, XM_011545646.3:c.66G>A, XM_011545646.3:c.66G>C, XM_011545646.2:c.66G>A, XM_011545646.2:c.66G>C, XM_011545646.1:c.66G>A, XM_011545646.1:c.66G>C, XM_011545652.3:c.66G>A, XM_011545652.3:c.66G>C, XM_011545652.2:c.66G>A, XM_011545652.2:c.66G>C, XM_011545652.1:c.66G>A, XM_011545652.1:c.66G>C, XM_017029495.2:c.66G>A, XM_017029495.2:c.66G>C, XM_017029495.1:c.66G>A, XM_017029495.1:c.66G>C, XM_011545645.3:c.66G>A, XM_011545645.3:c.66G>C, XM_011545645.2:c.66G>A, XM_011545645.2:c.66G>C, XM_011545645.1:c.66G>A, XM_011545645.1:c.66G>C, XM_017030044.2:c.66G>A, XM_017030044.2:c.66G>C, XM_017030044.1:c.66G>A, XM_017030044.1:c.66G>C, XM_047442094.1:c.66G>A, XM_047442094.1:c.66G>C, XM_047442092.1:c.-1440G>A, XM_047442092.1:c.-1440G>C, XM_047442093.1:c.66G>A, XM_047442093.1:c.66G>C, NR_024033.1:n.229G>A, NR_024033.1:n.229G>C, XM_047442095.1:c.66G>A, XM_047442095.1:c.66G>C, XM_047442734.1:c.66G>A, XM_047442734.1:c.66G>C, XM_047442732.1:c.-1440G>A, XM_047442732.1:c.-1440G>C, XM_047442733.1:c.66G>A, XM_047442733.1:c.66G>C, XM_047442735.1:c.66G>A, XM_047442735.1:c.66G>C, NP_789743.2:p.Gln22His, XP_011543952.1:p.Gln22His, XP_011543948.1:p.Gln22His, XP_011543954.1:p.Gln22His, XP_011543947.1:p.Gln22His, XP_016885533.1:p.Gln22His, XP_047298690.1:p.Gln22His, XP_047298689.1:p.Gln22His, XP_047298691.1:p.Gln22His

                          13.

                          rs1463395199 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            Y:57189513 (GRCh38)
                            Y:59335664 (GRCh37)
                            Canonical SPDI:
                            NC_000024.10:57189512:G:T
                            Gene:
                            IL9R (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000015/4 (TOPMED)
                            T=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000024.10:g.57189513G>T, NC_000024.9:g.59335664G>T, NG_013238.1:g.10413G>T, NM_002186.3:c.116G>T, NM_002186.2:c.116G>T, NM_176786.2:c.257G>T, NM_176786.1:c.257G>T, NC_000023.11:g.156002993G>T, NC_000023.10:g.155232658G>T, XM_011531155.3:c.257G>T, XM_011531155.2:c.257G>T, XM_011531155.1:c.257G>T, XM_011531151.3:c.257G>T, XM_011531151.2:c.257G>T, XM_011531151.1:c.257G>T, XM_011531152.3:c.233G>T, XM_011531152.2:c.233G>T, XM_011531152.1:c.233G>T, XM_011531157.3:c.257G>T, XM_011531157.2:c.257G>T, XM_011531157.1:c.257G>T, XM_011545650.3:c.257G>T, XM_011545650.2:c.257G>T, XM_011545650.1:c.257G>T, XM_011545646.3:c.233G>T, XM_011545646.2:c.233G>T, XM_011545646.1:c.233G>T, XM_011545652.3:c.257G>T, XM_011545652.2:c.257G>T, XM_011545652.1:c.257G>T, XM_017029495.2:c.257G>T, XM_017029495.1:c.257G>T, XM_011545645.3:c.257G>T, XM_011545645.2:c.257G>T, XM_011545645.1:c.257G>T, XM_017030044.2:c.257G>T, XM_017030044.1:c.257G>T, XM_047442094.1:c.233G>T, XM_047442092.1:c.125G>T, XM_047442093.1:c.257G>T, NR_024033.1:n.420G>T, XM_047442095.1:c.233G>T, XM_047442734.1:c.233G>T, XM_047442732.1:c.125G>T, XM_047442733.1:c.257G>T, XM_047442735.1:c.233G>T, NP_002177.2:p.Gly39Val, NP_789743.2:p.Gly86Val, XP_011543952.1:p.Gly86Val, XP_011543948.1:p.Gly78Val, XP_011543954.1:p.Gly86Val, XP_011543947.1:p.Gly86Val, XP_016885533.1:p.Gly86Val, XP_047298690.1:p.Gly78Val, XP_047298688.1:p.Gly42Val, XP_047298689.1:p.Gly86Val, XP_047298691.1:p.Gly78Val

                            14.

                            rs1462122786 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              Y:57189449 (GRCh38)
                              Y:59335600 (GRCh37)
                              Canonical SPDI:
                              NC_000024.10:57189448:C:A
                              Gene:
                              IL9R (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000024.10:g.57189449C>A, NC_000024.9:g.59335600C>A, NG_013238.1:g.10349C>A, NM_002186.3:c.52C>A, NM_002186.2:c.52C>A, NM_176786.2:c.193C>A, NM_176786.1:c.193C>A, NC_000023.11:g.156002929C>A, NC_000023.10:g.155232594C>A, XM_011531155.3:c.193C>A, XM_011531155.2:c.193C>A, XM_011531155.1:c.193C>A, XM_011531151.3:c.193C>A, XM_011531151.2:c.193C>A, XM_011531151.1:c.193C>A, XM_011531152.3:c.169C>A, XM_011531152.2:c.169C>A, XM_011531152.1:c.169C>A, XM_011531157.3:c.193C>A, XM_011531157.2:c.193C>A, XM_011531157.1:c.193C>A, XM_011545650.3:c.193C>A, XM_011545650.2:c.193C>A, XM_011545650.1:c.193C>A, XM_011545646.3:c.169C>A, XM_011545646.2:c.169C>A, XM_011545646.1:c.169C>A, XM_011545652.3:c.193C>A, XM_011545652.2:c.193C>A, XM_011545652.1:c.193C>A, XM_017029495.2:c.193C>A, XM_017029495.1:c.193C>A, XM_011545645.3:c.193C>A, XM_011545645.2:c.193C>A, XM_011545645.1:c.193C>A, XM_017030044.2:c.193C>A, XM_017030044.1:c.193C>A, XM_047442094.1:c.169C>A, XM_047442092.1:c.61C>A, XM_047442093.1:c.193C>A, NR_024033.1:n.356C>A, XM_047442095.1:c.169C>A, XM_047442734.1:c.169C>A, XM_047442732.1:c.61C>A, XM_047442733.1:c.193C>A, XM_047442735.1:c.169C>A, NP_002177.2:p.Leu18Met, NP_789743.2:p.Leu65Met, XP_011543952.1:p.Leu65Met, XP_011543948.1:p.Leu57Met, XP_011543954.1:p.Leu65Met, XP_011543947.1:p.Leu65Met, XP_016885533.1:p.Leu65Met, XP_047298690.1:p.Leu57Met, XP_047298688.1:p.Leu21Met, XP_047298689.1:p.Leu65Met, XP_047298691.1:p.Leu57Met

                              15.

                              rs1455364647 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                Y:57184275 (GRCh38)
                                Y:59330426 (GRCh37)
                                Canonical SPDI:
                                NC_000024.10:57184274:T:C
                                Gene:
                                IL9R (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000024.10:g.57184275T>C, NC_000024.9:g.59330426T>C, NG_013238.1:g.5175T>C, NM_002186.3:c.-5T>C, NM_002186.2:c.-5T>C, NM_176786.2:c.12T>C, NM_176786.1:c.12T>C, NC_000023.11:g.155997755T>C, NC_000023.10:g.155227420T>C, XM_011531155.3:c.12T>C, XM_011531155.2:c.12T>C, XM_011531155.1:c.12T>C, XM_011531151.3:c.12T>C, XM_011531151.2:c.12T>C, XM_011531151.1:c.12T>C, XM_011531152.3:c.12T>C, XM_011531152.2:c.12T>C, XM_011531152.1:c.12T>C, XM_011531157.3:c.12T>C, XM_011531157.2:c.12T>C, XM_011531157.1:c.12T>C, XM_011545650.3:c.12T>C, XM_011545650.2:c.12T>C, XM_011545650.1:c.12T>C, XM_011545646.3:c.12T>C, XM_011545646.2:c.12T>C, XM_011545646.1:c.12T>C, XM_011545652.3:c.12T>C, XM_011545652.2:c.12T>C, XM_011545652.1:c.12T>C, XM_017029495.2:c.12T>C, XM_017029495.1:c.12T>C, XM_011545645.3:c.12T>C, XM_011545645.2:c.12T>C, XM_011545645.1:c.12T>C, XM_017029502.2:c.-5T>C, XM_017029502.1:c.-5T>C, XM_017030044.2:c.12T>C, XM_017030044.1:c.12T>C, XM_017030051.2:c.-5T>C, XM_017030051.1:c.-5T>C, XM_047442094.1:c.12T>C, XM_047442092.1:c.-1572T>C, XM_047442093.1:c.12T>C, NR_024033.1:n.175T>C, XM_047442095.1:c.12T>C, XM_047442734.1:c.12T>C, XM_047442732.1:c.-1572T>C, XM_047442733.1:c.12T>C, XM_047442735.1:c.12T>C

                                16.

                                rs1454535665 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  Y:57189498 (GRCh38)
                                  Y:59335649 (GRCh37)
                                  Canonical SPDI:
                                  NC_000024.10:57189497:C:A
                                  Gene:
                                  IL9R (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000024.10:g.57189498C>A, NC_000024.9:g.59335649C>A, NG_013238.1:g.10398C>A, NM_002186.3:c.101C>A, NM_002186.2:c.101C>A, NM_176786.2:c.242C>A, NM_176786.1:c.242C>A, NC_000023.11:g.156002978C>A, NC_000023.10:g.155232643C>A, XM_011531155.3:c.242C>A, XM_011531155.2:c.242C>A, XM_011531155.1:c.242C>A, XM_011531151.3:c.242C>A, XM_011531151.2:c.242C>A, XM_011531151.1:c.242C>A, XM_011531152.3:c.218C>A, XM_011531152.2:c.218C>A, XM_011531152.1:c.218C>A, XM_011531157.3:c.242C>A, XM_011531157.2:c.242C>A, XM_011531157.1:c.242C>A, XM_011545650.3:c.242C>A, XM_011545650.2:c.242C>A, XM_011545650.1:c.242C>A, XM_011545646.3:c.218C>A, XM_011545646.2:c.218C>A, XM_011545646.1:c.218C>A, XM_011545652.3:c.242C>A, XM_011545652.2:c.242C>A, XM_011545652.1:c.242C>A, XM_017029495.2:c.242C>A, XM_017029495.1:c.242C>A, XM_011545645.3:c.242C>A, XM_011545645.2:c.242C>A, XM_011545645.1:c.242C>A, XM_017030044.2:c.242C>A, XM_017030044.1:c.242C>A, XM_047442094.1:c.218C>A, XM_047442092.1:c.110C>A, XM_047442093.1:c.242C>A, NR_024033.1:n.405C>A, XM_047442095.1:c.218C>A, XM_047442734.1:c.218C>A, XM_047442732.1:c.110C>A, XM_047442733.1:c.242C>A, XM_047442735.1:c.218C>A, NP_002177.2:p.Thr34Asn, NP_789743.2:p.Thr81Asn, XP_011543952.1:p.Thr81Asn, XP_011543948.1:p.Thr73Asn, XP_011543954.1:p.Thr81Asn, XP_011543947.1:p.Thr81Asn, XP_016885533.1:p.Thr81Asn, XP_047298690.1:p.Thr73Asn, XP_047298688.1:p.Thr37Asn, XP_047298689.1:p.Thr81Asn, XP_047298691.1:p.Thr73Asn

                                  17.

                                  rs1452885412 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    Y:57191032 (GRCh38)
                                    Y:59337183 (GRCh37)
                                    Canonical SPDI:
                                    NC_000024.10:57191031:A:G
                                    Gene:
                                    IL9R (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000024.10:g.57191032A>G, NC_000024.9:g.59337183A>G, NG_013238.1:g.11932A>G, NM_002186.3:c.526A>G, NM_002186.2:c.526A>G, NM_176786.2:c.631A>G, NM_176786.1:c.631A>G, NC_000023.11:g.156004512A>G, NC_000023.10:g.155234177A>G, XM_011531155.3:c.667A>G, XM_011531155.2:c.667A>G, XM_011531155.1:c.667A>G, XM_011531151.3:c.667A>G, XM_011531151.2:c.667A>G, XM_011531151.1:c.667A>G, XM_011531152.3:c.643A>G, XM_011531152.2:c.643A>G, XM_011531152.1:c.643A>G, XM_011531157.3:c.667A>G, XM_011531157.2:c.667A>G, XM_011531157.1:c.667A>G, XM_011545650.3:c.667A>G, XM_011545650.2:c.667A>G, XM_011545650.1:c.667A>G, XM_011545646.3:c.643A>G, XM_011545646.2:c.643A>G, XM_011545646.1:c.643A>G, XM_011545652.3:c.667A>G, XM_011545652.2:c.667A>G, XM_011545652.1:c.667A>G, XM_017029495.2:c.667A>G, XM_017029495.1:c.667A>G, XM_011545645.3:c.667A>G, XM_011545645.2:c.667A>G, XM_011545645.1:c.667A>G, XM_017029502.2:c.121A>G, XM_017029502.1:c.121A>G, XM_017030044.2:c.667A>G, XM_017030044.1:c.667A>G, XM_017030051.2:c.121A>G, XM_017030051.1:c.121A>G, XM_047442094.1:c.643A>G, XM_047442092.1:c.535A>G, XM_047442093.1:c.667A>G, NR_024033.1:n.794A>G, XM_047442095.1:c.643A>G, XM_047442734.1:c.643A>G, XM_047442732.1:c.535A>G, XM_047442733.1:c.667A>G, XM_047442735.1:c.643A>G, NP_002177.2:p.Thr176Ala, NP_789743.2:p.Thr211Ala, XP_011543952.1:p.Thr223Ala, XP_011543948.1:p.Thr215Ala, XP_011543954.1:p.Thr223Ala, XP_011543947.1:p.Thr223Ala, XP_016885533.1:p.Thr223Ala, XP_016885540.1:p.Thr41Ala, XP_047298690.1:p.Thr215Ala, XP_047298688.1:p.Thr179Ala, XP_047298689.1:p.Thr223Ala, XP_047298691.1:p.Thr215Ala

                                    18.

                                    rs1447368781 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      Y:57190348 (GRCh38)
                                      Y:59336499 (GRCh37)
                                      Canonical SPDI:
                                      NC_000024.10:57190347:G:A
                                      Gene:
                                      IL9R (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,stop_gained,upstream_transcript_variant,missense_variant,genic_upstream_transcript_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_000024.10:g.57190348G>A, NC_000024.9:g.59336499G>A, NG_013238.1:g.11248G>A, NM_002186.3:c.406G>A, NM_002186.2:c.406G>A, NM_176786.2:c.540G>A, NM_176786.1:c.540G>A, NC_000023.11:g.156003828G>A, NC_000023.10:g.155233493G>A, XM_011531155.3:c.547G>A, XM_011531155.2:c.547G>A, XM_011531155.1:c.547G>A, XM_011531151.3:c.547G>A, XM_011531151.2:c.547G>A, XM_011531151.1:c.547G>A, XM_011531152.3:c.523G>A, XM_011531152.2:c.523G>A, XM_011531152.1:c.523G>A, XM_011531157.3:c.547G>A, XM_011531157.2:c.547G>A, XM_011531157.1:c.547G>A, XM_011545650.3:c.547G>A, XM_011545650.2:c.547G>A, XM_011545650.1:c.547G>A, XM_011545646.3:c.523G>A, XM_011545646.2:c.523G>A, XM_011545646.1:c.523G>A, XM_011545652.3:c.547G>A, XM_011545652.2:c.547G>A, XM_011545652.1:c.547G>A, XM_017029495.2:c.547G>A, XM_017029495.1:c.547G>A, XM_011545645.3:c.547G>A, XM_011545645.2:c.547G>A, XM_011545645.1:c.547G>A, XM_017030044.2:c.547G>A, XM_017030044.1:c.547G>A, XM_047442094.1:c.523G>A, XM_047442092.1:c.415G>A, XM_047442093.1:c.547G>A, NR_024033.1:n.703G>A, XM_047442095.1:c.523G>A, XM_047442734.1:c.523G>A, XM_047442732.1:c.415G>A, XM_047442733.1:c.547G>A, XM_047442735.1:c.523G>A, NP_002177.2:p.Asp136Asn, NP_789743.2:p.Trp180Ter, XP_011543952.1:p.Asp183Asn, XP_011543948.1:p.Asp175Asn, XP_011543954.1:p.Asp183Asn, XP_011543947.1:p.Asp183Asn, XP_016885533.1:p.Asp183Asn, XP_047298690.1:p.Asp175Asn, XP_047298688.1:p.Asp139Asn, XP_047298689.1:p.Asp183Asn, XP_047298691.1:p.Asp175Asn

                                      19.

                                      rs1445600027 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        Y:57189986 (GRCh38)
                                        Y:59336137 (GRCh37)
                                        Canonical SPDI:
                                        NC_000024.10:57189985:T:G
                                        Gene:
                                        IL9R (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000111/1 (ALFA)
                                        G=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000024.10:g.57189986T>G, NC_000024.9:g.59336137T>G, NG_013238.1:g.10886T>G, NM_002186.3:c.160T>G, NM_002186.2:c.160T>G, NM_176786.2:c.301T>G, NM_176786.1:c.301T>G, NC_000023.11:g.156003466T>G, NC_000023.10:g.155233131T>G, XM_011531155.3:c.301T>G, XM_011531155.2:c.301T>G, XM_011531155.1:c.301T>G, XM_011531151.3:c.301T>G, XM_011531151.2:c.301T>G, XM_011531151.1:c.301T>G, XM_011531152.3:c.277T>G, XM_011531152.2:c.277T>G, XM_011531152.1:c.277T>G, XM_011531157.3:c.301T>G, XM_011531157.2:c.301T>G, XM_011531157.1:c.301T>G, XM_011545650.3:c.301T>G, XM_011545650.2:c.301T>G, XM_011545650.1:c.301T>G, XM_011545646.3:c.277T>G, XM_011545646.2:c.277T>G, XM_011545646.1:c.277T>G, XM_011545652.3:c.301T>G, XM_011545652.2:c.301T>G, XM_011545652.1:c.301T>G, XM_017029495.2:c.301T>G, XM_017029495.1:c.301T>G, XM_011545645.3:c.301T>G, XM_011545645.2:c.301T>G, XM_011545645.1:c.301T>G, XM_017030044.2:c.301T>G, XM_017030044.1:c.301T>G, XM_047442094.1:c.277T>G, XM_047442092.1:c.169T>G, XM_047442093.1:c.301T>G, NR_024033.1:n.464T>G, XM_047442095.1:c.277T>G, XM_047442734.1:c.277T>G, XM_047442732.1:c.169T>G, XM_047442733.1:c.301T>G, XM_047442735.1:c.277T>G, NP_002177.2:p.Phe54Val, NP_789743.2:p.Phe101Val, XP_011543952.1:p.Phe101Val, XP_011543948.1:p.Phe93Val, XP_011543954.1:p.Phe101Val, XP_011543947.1:p.Phe101Val, XP_016885533.1:p.Phe101Val, XP_047298690.1:p.Phe93Val, XP_047298688.1:p.Phe57Val, XP_047298689.1:p.Phe101Val, XP_047298691.1:p.Phe93Val

                                        20.

                                        rs1443708119 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          Y:57189485 (GRCh38)
                                          Y:59335636 (GRCh37)
                                          Canonical SPDI:
                                          NC_000024.10:57189484:A:T
                                          Gene:
                                          IL9R (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000024.10:g.57189485A>T, NC_000024.9:g.59335636A>T, NG_013238.1:g.10385A>T, NM_002186.3:c.88A>T, NM_002186.2:c.88A>T, NM_176786.2:c.229A>T, NM_176786.1:c.229A>T, NC_000023.11:g.156002965A>T, NC_000023.10:g.155232630A>T, XM_011531155.3:c.229A>T, XM_011531155.2:c.229A>T, XM_011531155.1:c.229A>T, XM_011531151.3:c.229A>T, XM_011531151.2:c.229A>T, XM_011531151.1:c.229A>T, XM_011531152.3:c.205A>T, XM_011531152.2:c.205A>T, XM_011531152.1:c.205A>T, XM_011531157.3:c.229A>T, XM_011531157.2:c.229A>T, XM_011531157.1:c.229A>T, XM_011545650.3:c.229A>T, XM_011545650.2:c.229A>T, XM_011545650.1:c.229A>T, XM_011545646.3:c.205A>T, XM_011545646.2:c.205A>T, XM_011545646.1:c.205A>T, XM_011545652.3:c.229A>T, XM_011545652.2:c.229A>T, XM_011545652.1:c.229A>T, XM_017029495.2:c.229A>T, XM_017029495.1:c.229A>T, XM_011545645.3:c.229A>T, XM_011545645.2:c.229A>T, XM_011545645.1:c.229A>T, XM_017030044.2:c.229A>T, XM_017030044.1:c.229A>T, XM_047442094.1:c.205A>T, XM_047442092.1:c.97A>T, XM_047442093.1:c.229A>T, NR_024033.1:n.392A>T, XM_047442095.1:c.205A>T, XM_047442734.1:c.205A>T, XM_047442732.1:c.97A>T, XM_047442733.1:c.229A>T, XM_047442735.1:c.205A>T, NP_002177.2:p.Ile30Phe, NP_789743.2:p.Ile77Phe, XP_011543952.1:p.Ile77Phe, XP_011543948.1:p.Ile69Phe, XP_011543954.1:p.Ile77Phe, XP_011543947.1:p.Ile77Phe, XP_016885533.1:p.Ile77Phe, XP_047298690.1:p.Ile69Phe, XP_047298688.1:p.Ile33Phe, XP_047298689.1:p.Ile77Phe, XP_047298691.1:p.Ile69Phe

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