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Items: 1 to 20 of 512

1.

rs1491408879 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GC>- [Show Flanks]
    Chromosome:
    Y:57196676 (GRCh38)
    Y:59342827 (GRCh37)
    Canonical SPDI:
    NC_000024.10:57196675:GC:
    Gene:
    IL9R (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000013/1 (ExAC)
    -=0.000014/3 (GnomAD_exomes)
    -=0.000026/7 (TOPMED)
    HGVS:
    NC_000024.10:g.57196676_57196677del, NC_000024.9:g.59342827_59342828del, NG_013238.1:g.17576_17577del, NM_002186.3:c.1313_1314del, NM_002186.2:c.1313_1314del, NM_176786.2:c.*304_*305del, NM_176786.1:c.*304_*305del, NC_000023.11:g.156010156_156010157del, NC_000023.10:g.155239821_155239822del, XM_011531155.3:c.*304_*305del, XM_011531151.3:c.1454_1455del, XM_011531151.2:c.1454_1455del, XM_011531151.1:c.1454_1455del, XM_011531152.3:c.1430_1431del, XM_011531152.2:c.1430_1431del, XM_011531152.1:c.1430_1431del, XM_011531157.3:c.*304_*305del, XM_011545650.3:c.*304_*305del, XM_011545645.3:c.1454_1455del, XM_011545645.2:c.1454_1455del, XM_011545645.1:c.1454_1455del, XM_011545646.3:c.1430_1431del, XM_011545646.2:c.1430_1431del, XM_011545646.1:c.1430_1431del, XM_011545652.3:c.*304_*305del, XM_017029495.2:c.1451_1452del, XM_017029495.1:c.1451_1452del, XM_017029502.2:c.908_909del, XM_017029502.1:c.908_909del, XM_017029506.2:c.611_612del, XM_017029506.1:c.611_612del, XM_017030044.2:c.1451_1452del, XM_017030044.1:c.1451_1452del, XM_017030051.2:c.908_909del, XM_017030051.1:c.908_909del, XM_017030055.2:c.611_612del, XM_017030055.1:c.611_612del, XM_047442094.1:c.*2021_*2022del, XM_047442092.1:c.1322_1323del, NR_024033.1:n.1496_1497del, XM_047442095.1:c.*304_*305del, XM_047442093.1:c.*304_*305del, XM_047442734.1:c.*2021_*2022del, XM_047442732.1:c.1322_1323del, XM_047442733.1:c.*304_*305del, XM_047442735.1:c.*304_*305del, NP_002177.2:p.Ser438fs, XP_011543947.1:p.Ser485fs, XP_011543948.1:p.Ser477fs, XP_016885533.1:p.Ser484fs, XP_016885540.1:p.Ser303fs, XP_016885544.1:p.Ser204fs, XP_047298688.1:p.Ser441fs

    2.

    rs1491003716 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      Y:57190950 (GRCh38)
      Y:59337101 (GRCh37)
      Canonical SPDI:
      NC_000024.10:57190949:CCC:CC
      Gene:
      IL9R (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CC=0.000071/1 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000024.10:g.57190952del, NC_000024.9:g.59337103del, NG_013238.1:g.11852del, NM_002186.3:c.446del, NM_002186.2:c.446del, NC_000023.11:g.156004432del, NC_000023.10:g.155234097del, XM_011531155.3:c.587del, XM_011531155.2:c.587del, XM_011531155.1:c.587del, XM_011531151.3:c.587del, XM_011531151.2:c.587del, XM_011531151.1:c.587del, XM_011531152.3:c.563del, XM_011531152.2:c.563del, XM_011531152.1:c.563del, XM_011531157.3:c.587del, XM_011531157.2:c.587del, XM_011531157.1:c.587del, XM_011545650.3:c.587del, XM_011545650.2:c.587del, XM_011545650.1:c.587del, XM_011545646.3:c.563del, XM_011545646.2:c.563del, XM_011545646.1:c.563del, XM_011545652.3:c.587del, XM_011545652.2:c.587del, XM_011545652.1:c.587del, XM_017029495.2:c.587del, XM_017029495.1:c.587del, XM_011545645.3:c.587del, XM_011545645.2:c.587del, XM_011545645.1:c.587del, XM_017029502.2:c.41del, XM_017029502.1:c.41del, XM_017030044.2:c.587del, XM_017030044.1:c.587del, XM_017030051.2:c.41del, XM_017030051.1:c.41del, XM_047442094.1:c.563del, XM_047442092.1:c.455del, XM_047442093.1:c.587del, XM_047442095.1:c.563del, XM_047442734.1:c.563del, XM_047442732.1:c.455del, XM_047442733.1:c.587del, XM_047442735.1:c.563del, NP_002177.2:p.Pro149fs, XP_011543952.1:p.Pro196fs, XP_011543948.1:p.Pro188fs, XP_011543954.1:p.Pro196fs, XP_011543947.1:p.Pro196fs, XP_016885533.1:p.Pro196fs, XP_016885540.1:p.Pro14fs, XP_047298690.1:p.Pro188fs, XP_047298688.1:p.Pro152fs, XP_047298689.1:p.Pro196fs, XP_047298691.1:p.Pro188fs

      3.

      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

        4.

        rs1487552141 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          Y:57196496 (GRCh38)
          Y:59342647 (GRCh37)
          Canonical SPDI:
          NC_000024.10:57196495:G:T
          Gene:
          IL9R (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000024.10:g.57196496G>T, NC_000024.9:g.59342647G>T, NG_013238.1:g.17396G>T, NM_002186.3:c.1133G>T, NM_002186.2:c.1133G>T, NM_176786.2:c.*124G>T, NM_176786.1:c.*124G>T, NC_000023.11:g.156009976G>T, NC_000023.10:g.155239641G>T, XM_011531155.3:c.*124G>T, XM_011531151.3:c.1274G>T, XM_011531151.2:c.1274G>T, XM_011531151.1:c.1274G>T, XM_011531152.3:c.1250G>T, XM_011531152.2:c.1250G>T, XM_011531152.1:c.1250G>T, XM_011531157.3:c.*124G>T, XM_011545650.3:c.*124G>T, XM_011545645.3:c.1274G>T, XM_011545645.2:c.1274G>T, XM_011545645.1:c.1274G>T, XM_011545646.3:c.1250G>T, XM_011545646.2:c.1250G>T, XM_011545646.1:c.1250G>T, XM_011545652.3:c.*124G>T, XM_017029495.2:c.1271G>T, XM_017029495.1:c.1271G>T, XM_017029502.2:c.728G>T, XM_017029502.1:c.728G>T, XM_017029506.2:c.431G>T, XM_017029506.1:c.431G>T, XM_017030044.2:c.1271G>T, XM_017030044.1:c.1271G>T, XM_017030051.2:c.728G>T, XM_017030051.1:c.728G>T, XM_017030055.2:c.431G>T, XM_017030055.1:c.431G>T, XM_047442094.1:c.*1841G>T, XM_047442092.1:c.1142G>T, NR_024033.1:n.1316G>T, XM_047442095.1:c.*124G>T, XM_047442093.1:c.*124G>T, XM_047442734.1:c.*1841G>T, XM_047442732.1:c.1142G>T, XM_047442733.1:c.*124G>T, XM_047442735.1:c.*124G>T, NP_002177.2:p.Gly378Val, XP_011543947.1:p.Gly425Val, XP_011543948.1:p.Gly417Val, XP_016885533.1:p.Gly424Val, XP_016885540.1:p.Gly243Val, XP_016885544.1:p.Gly144Val, XP_047298688.1:p.Gly381Val

          5.

          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

            6.

            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

              7.

              rs1477119056 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                Y:57196792 (GRCh38)
                Y:59342943 (GRCh37)
                Canonical SPDI:
                NC_000024.10:57196791:G:C
                Gene:
                IL9R (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000009/1 (GnomAD_exomes)
                C=0.000013/1 (GnomAD)
                HGVS:
                NC_000024.10:g.57196792G>C, NC_000024.9:g.59342943G>C, NG_013238.1:g.17692G>C, NM_002186.3:c.1429G>C, NM_002186.2:c.1429G>C, NM_176786.2:c.*420G>C, NM_176786.1:c.*420G>C, NC_000023.11:g.156010272G>C, NC_000023.10:g.155239937G>C, XM_011531155.3:c.*420G>C, XM_011531151.3:c.1570G>C, XM_011531151.2:c.1570G>C, XM_011531151.1:c.1570G>C, XM_011531152.3:c.1546G>C, XM_011531152.2:c.1546G>C, XM_011531152.1:c.1546G>C, XM_011531157.3:c.*420G>C, XM_011545650.3:c.*420G>C, XM_011545645.3:c.1570G>C, XM_011545645.2:c.1570G>C, XM_011545645.1:c.1570G>C, XM_011545646.3:c.1546G>C, XM_011545646.2:c.1546G>C, XM_011545646.1:c.1546G>C, XM_011545652.3:c.*420G>C, XM_017029495.2:c.1567G>C, XM_017029495.1:c.1567G>C, XM_017029502.2:c.1024G>C, XM_017029502.1:c.1024G>C, XM_017029506.2:c.727G>C, XM_017029506.1:c.727G>C, XM_017030044.2:c.1567G>C, XM_017030044.1:c.1567G>C, XM_017030051.2:c.1024G>C, XM_017030051.1:c.1024G>C, XM_017030055.2:c.727G>C, XM_017030055.1:c.727G>C, XM_047442094.1:c.*2137G>C, XM_047442092.1:c.1438G>C, NR_024033.1:n.1612G>C, XM_047442095.1:c.*420G>C, XM_047442093.1:c.*420G>C, XM_047442734.1:c.*2137G>C, XM_047442732.1:c.1438G>C, XM_047442733.1:c.*420G>C, XM_047442735.1:c.*420G>C, NP_002177.2:p.Asp477His, XP_011543947.1:p.Asp524His, XP_011543948.1:p.Asp516His, XP_016885533.1:p.Asp523His, XP_016885540.1:p.Asp342His, XP_016885544.1:p.Asp243His, XP_047298688.1:p.Asp480His

                8.

                rs1474042568 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  Y:57196591 (GRCh38)
                  Y:59342742 (GRCh37)
                  Canonical SPDI:
                  NC_000024.10:57196590:C:T
                  Gene:
                  IL9R (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000017/2 (GnomAD)
                  HGVS:
                  NC_000024.10:g.57196591C>T, NC_000024.9:g.59342742C>T, NG_013238.1:g.17491C>T, NM_002186.3:c.1228C>T, NM_002186.2:c.1228C>T, NM_176786.2:c.*219C>T, NM_176786.1:c.*219C>T, NC_000023.11:g.156010071C>T, NC_000023.10:g.155239736C>T, XM_011531155.3:c.*219C>T, XM_011531151.3:c.1369C>T, XM_011531151.2:c.1369C>T, XM_011531151.1:c.1369C>T, XM_011531152.3:c.1345C>T, XM_011531152.2:c.1345C>T, XM_011531152.1:c.1345C>T, XM_011531157.3:c.*219C>T, XM_011545650.3:c.*219C>T, XM_011545645.3:c.1369C>T, XM_011545645.2:c.1369C>T, XM_011545645.1:c.1369C>T, XM_011545646.3:c.1345C>T, XM_011545646.2:c.1345C>T, XM_011545646.1:c.1345C>T, XM_011545652.3:c.*219C>T, XM_017029495.2:c.1366C>T, XM_017029495.1:c.1366C>T, XM_017029502.2:c.823C>T, XM_017029502.1:c.823C>T, XM_017029506.2:c.526C>T, XM_017029506.1:c.526C>T, XM_017030044.2:c.1366C>T, XM_017030044.1:c.1366C>T, XM_017030051.2:c.823C>T, XM_017030051.1:c.823C>T, XM_017030055.2:c.526C>T, XM_017030055.1:c.526C>T, XM_047442094.1:c.*1936C>T, XM_047442092.1:c.1237C>T, NR_024033.1:n.1411C>T, XM_047442095.1:c.*219C>T, XM_047442093.1:c.*219C>T, XM_047442734.1:c.*1936C>T, XM_047442732.1:c.1237C>T, XM_047442733.1:c.*219C>T, XM_047442735.1:c.*219C>T, NP_002177.2:p.Gln410Ter, XP_011543947.1:p.Gln457Ter, XP_011543948.1:p.Gln449Ter, XP_016885533.1:p.Gln456Ter, XP_016885540.1:p.Gln275Ter, XP_016885544.1:p.Gln176Ter, XP_047298688.1:p.Gln413Ter

                  9.

                  rs1473293988 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    Y:57196924 (GRCh38)
                    Y:59343075 (GRCh37)
                    Canonical SPDI:
                    NC_000024.10:57196923:T:A
                    Gene:
                    IL9R (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,3_prime_UTR_variant
                    HGVS:
                    NC_000024.10:g.57196924T>A, NC_000024.9:g.59343075T>A, NG_013238.1:g.17824T>A, NM_002186.3:c.1561T>A, NM_002186.2:c.1561T>A, NM_176786.2:c.*552T>A, NM_176786.1:c.*552T>A, NC_000023.11:g.156010404T>A, NC_000023.10:g.155240069T>A, XM_011531155.3:c.*552T>A, XM_011531151.3:c.1702T>A, XM_011531151.2:c.1702T>A, XM_011531151.1:c.1702T>A, XM_011531152.3:c.1678T>A, XM_011531152.2:c.1678T>A, XM_011531152.1:c.1678T>A, XM_011531157.3:c.*552T>A, XM_011545650.3:c.*552T>A, XM_011545645.3:c.1702T>A, XM_011545645.2:c.1702T>A, XM_011545645.1:c.1702T>A, XM_011545646.3:c.1678T>A, XM_011545646.2:c.1678T>A, XM_011545646.1:c.1678T>A, XM_011545652.3:c.*552T>A, XM_017029495.2:c.1699T>A, XM_017029495.1:c.1699T>A, XM_017029502.2:c.1156T>A, XM_017029502.1:c.1156T>A, XM_017029506.2:c.859T>A, XM_017029506.1:c.859T>A, XM_017030044.2:c.1699T>A, XM_017030044.1:c.1699T>A, XM_017030051.2:c.1156T>A, XM_017030051.1:c.1156T>A, XM_017030055.2:c.859T>A, XM_017030055.1:c.859T>A, XM_047442094.1:c.*2269T>A, XM_047442092.1:c.1570T>A, NR_024033.1:n.1744T>A, XM_047442095.1:c.*552T>A, XM_047442093.1:c.*552T>A, XM_047442734.1:c.*2269T>A, XM_047442732.1:c.1570T>A, XM_047442733.1:c.*552T>A, XM_047442735.1:c.*552T>A, NP_002177.2:p.Phe521Ile, XP_011543947.1:p.Phe568Ile, XP_011543948.1:p.Phe560Ile, XP_016885533.1:p.Phe567Ile, XP_016885540.1:p.Phe386Ile, XP_016885544.1:p.Phe287Ile, XP_047298688.1:p.Phe524Ile

                    10.

                    rs1467093558 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      Y:57196902 (GRCh38)
                      Y:59343053 (GRCh37)
                      Canonical SPDI:
                      NC_000024.10:57196901:C:T
                      Gene:
                      IL9R (Varview)
                      Functional Consequence:
                      coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.00004/2 (GnomAD)
                      T=0.00004/2 (GnomAD_exomes)
                      HGVS:
                      NC_000024.10:g.57196902C>T, NC_000024.9:g.59343053C>T, NG_013238.1:g.17802C>T, NM_002186.3:c.1539C>T, NM_002186.2:c.1539C>T, NM_176786.2:c.*530C>T, NM_176786.1:c.*530C>T, NC_000023.11:g.156010382C>T, NC_000023.10:g.155240047C>T, XM_011531155.3:c.*530C>T, XM_011531151.3:c.1680C>T, XM_011531151.2:c.1680C>T, XM_011531151.1:c.1680C>T, XM_011531152.3:c.1656C>T, XM_011531152.2:c.1656C>T, XM_011531152.1:c.1656C>T, XM_011531157.3:c.*530C>T, XM_011545650.3:c.*530C>T, XM_011545645.3:c.1680C>T, XM_011545645.2:c.1680C>T, XM_011545645.1:c.1680C>T, XM_011545646.3:c.1656C>T, XM_011545646.2:c.1656C>T, XM_011545646.1:c.1656C>T, XM_011545652.3:c.*530C>T, XM_017029495.2:c.1677C>T, XM_017029495.1:c.1677C>T, XM_017029502.2:c.1134C>T, XM_017029502.1:c.1134C>T, XM_017029506.2:c.837C>T, XM_017029506.1:c.837C>T, XM_017030044.2:c.1677C>T, XM_017030044.1:c.1677C>T, XM_017030051.2:c.1134C>T, XM_017030051.1:c.1134C>T, XM_017030055.2:c.837C>T, XM_017030055.1:c.837C>T, XM_047442094.1:c.*2247C>T, XM_047442092.1:c.1548C>T, XM_047442093.1:c.*530C>T, NR_024033.1:n.1722C>T, XM_047442095.1:c.*530C>T, XM_047442734.1:c.*2247C>T, XM_047442732.1:c.1548C>T, XM_047442733.1:c.*530C>T, XM_047442735.1:c.*530C>T

                      11.

                      rs1465902199 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        Y:57194091 (GRCh38)
                        Y:59340242 (GRCh37)
                        Canonical SPDI:
                        NC_000024.10:57194090: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.57194091C>T, NC_000024.9:g.59340242C>T, NG_013238.1:g.14991C>T, NM_002186.3:c.936C>T, NM_002186.2:c.936C>T, NC_000023.11:g.156007571C>T, NC_000023.10:g.155237236C>T, XM_011531155.3:c.1077C>T, XM_011531155.2:c.1077C>T, XM_011531155.1:c.1077C>T, XM_011531151.3:c.1077C>T, XM_011531151.2:c.1077C>T, XM_011531151.1:c.1077C>T, XM_011531152.3:c.1053C>T, XM_011531152.2:c.1053C>T, XM_011531152.1:c.1053C>T, XM_011545650.3:c.1077C>T, XM_011545650.2:c.1077C>T, XM_011545650.1:c.1077C>T, XM_011545645.3:c.1077C>T, XM_011545645.2:c.1077C>T, XM_011545645.1:c.1077C>T, XM_011545646.3:c.1053C>T, XM_011545646.2:c.1053C>T, XM_011545646.1:c.1053C>T, XM_017029495.2:c.1074C>T, XM_017029495.1:c.1074C>T, XM_017029502.2:c.531C>T, XM_017029502.1:c.531C>T, XM_017029506.2:c.234C>T, XM_017029506.1:c.234C>T, XM_017030044.2:c.1074C>T, XM_017030044.1:c.1074C>T, XM_017030051.2:c.531C>T, XM_017030051.1:c.531C>T, XM_017030055.2:c.234C>T, XM_017030055.1:c.234C>T, XM_047442094.1:c.1053C>T, XM_047442093.1:c.1074C>T, XM_047442092.1:c.945C>T, XM_047442734.1:c.1053C>T, XM_047442732.1:c.945C>T, XM_047442733.1:c.1074C>T

                        12.

                        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

                          13.

                          rs1457323275 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            Y:57196579 (GRCh38)
                            Y:59342730 (GRCh37)
                            Canonical SPDI:
                            NC_000024.10:57196578:G:A,NC_000024.10:57196578:G:C
                            Gene:
                            IL9R (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000024.10:g.57196579G>A, NC_000024.10:g.57196579G>C, NC_000024.9:g.59342730G>A, NC_000024.9:g.59342730G>C, NG_013238.1:g.17479G>A, NG_013238.1:g.17479G>C, NM_002186.3:c.1216G>A, NM_002186.3:c.1216G>C, NM_002186.2:c.1216G>A, NM_002186.2:c.1216G>C, NM_176786.2:c.*207G>A, NM_176786.2:c.*207G>C, NM_176786.1:c.*207G>A, NM_176786.1:c.*207G>C, NC_000023.11:g.156010059G>A, NC_000023.11:g.156010059G>C, NC_000023.10:g.155239724G>A, NC_000023.10:g.155239724G>C, XM_011531155.3:c.*207G>A, XM_011531155.3:c.*207G>C, XM_011531151.3:c.1357G>A, XM_011531151.3:c.1357G>C, XM_011531151.2:c.1357G>A, XM_011531151.2:c.1357G>C, XM_011531151.1:c.1357G>A, XM_011531151.1:c.1357G>C, XM_011531152.3:c.1333G>A, XM_011531152.3:c.1333G>C, XM_011531152.2:c.1333G>A, XM_011531152.2:c.1333G>C, XM_011531152.1:c.1333G>A, XM_011531152.1:c.1333G>C, XM_011531157.3:c.*207G>A, XM_011531157.3:c.*207G>C, XM_011545650.3:c.*207G>A, XM_011545650.3:c.*207G>C, XM_011545645.3:c.1357G>A, XM_011545645.3:c.1357G>C, XM_011545645.2:c.1357G>A, XM_011545645.2:c.1357G>C, XM_011545645.1:c.1357G>A, XM_011545645.1:c.1357G>C, XM_011545646.3:c.1333G>A, XM_011545646.3:c.1333G>C, XM_011545646.2:c.1333G>A, XM_011545646.2:c.1333G>C, XM_011545646.1:c.1333G>A, XM_011545646.1:c.1333G>C, XM_011545652.3:c.*207G>A, XM_011545652.3:c.*207G>C, XM_017029495.2:c.1354G>A, XM_017029495.2:c.1354G>C, XM_017029495.1:c.1354G>A, XM_017029495.1:c.1354G>C, XM_017029502.2:c.811G>A, XM_017029502.2:c.811G>C, XM_017029502.1:c.811G>A, XM_017029502.1:c.811G>C, XM_017029506.2:c.514G>A, XM_017029506.2:c.514G>C, XM_017029506.1:c.514G>A, XM_017029506.1:c.514G>C, XM_017030044.2:c.1354G>A, XM_017030044.2:c.1354G>C, XM_017030044.1:c.1354G>A, XM_017030044.1:c.1354G>C, XM_017030051.2:c.811G>A, XM_017030051.2:c.811G>C, XM_017030051.1:c.811G>A, XM_017030051.1:c.811G>C, XM_017030055.2:c.514G>A, XM_017030055.2:c.514G>C, XM_017030055.1:c.514G>A, XM_017030055.1:c.514G>C, XM_047442094.1:c.*1924G>A, XM_047442094.1:c.*1924G>C, XM_047442092.1:c.1225G>A, XM_047442092.1:c.1225G>C, XM_047442093.1:c.*207G>A, XM_047442093.1:c.*207G>C, NR_024033.1:n.1399G>A, NR_024033.1:n.1399G>C, XM_047442095.1:c.*207G>A, XM_047442095.1:c.*207G>C, XM_047442734.1:c.*1924G>A, XM_047442734.1:c.*1924G>C, XM_047442732.1:c.1225G>A, XM_047442732.1:c.1225G>C, XM_047442733.1:c.*207G>A, XM_047442733.1:c.*207G>C, XM_047442735.1:c.*207G>A, XM_047442735.1:c.*207G>C, NP_002177.2:p.Ala406Thr, NP_002177.2:p.Ala406Pro, XP_011543947.1:p.Ala453Thr, XP_011543947.1:p.Ala453Pro, XP_011543948.1:p.Ala445Thr, XP_011543948.1:p.Ala445Pro, XP_016885533.1:p.Ala452Thr, XP_016885533.1:p.Ala452Pro, XP_016885540.1:p.Ala271Thr, XP_016885540.1:p.Ala271Pro, XP_016885544.1:p.Ala172Thr, XP_016885544.1:p.Ala172Pro, XP_047298688.1:p.Ala409Thr, XP_047298688.1:p.Ala409Pro

                            14.

                            rs1456110295 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              Y:57196648 (GRCh38)
                              Y:59342799 (GRCh37)
                              Canonical SPDI:
                              NC_000024.10:57196647:A:C
                              Gene:
                              IL9R (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,3_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000024.10:g.57196648A>C, NC_000024.9:g.59342799A>C, NG_013238.1:g.17548A>C, NM_002186.3:c.1285A>C, NM_002186.2:c.1285A>C, NM_176786.2:c.*276A>C, NM_176786.1:c.*276A>C, NC_000023.11:g.156010128A>C, NC_000023.10:g.155239793A>C, XM_011531155.3:c.*276A>C, XM_011531151.3:c.1426A>C, XM_011531151.2:c.1426A>C, XM_011531151.1:c.1426A>C, XM_011531152.3:c.1402A>C, XM_011531152.2:c.1402A>C, XM_011531152.1:c.1402A>C, XM_011531157.3:c.*276A>C, XM_011545650.3:c.*276A>C, XM_011545645.3:c.1426A>C, XM_011545645.2:c.1426A>C, XM_011545645.1:c.1426A>C, XM_011545646.3:c.1402A>C, XM_011545646.2:c.1402A>C, XM_011545646.1:c.1402A>C, XM_011545652.3:c.*276A>C, XM_017029495.2:c.1423A>C, XM_017029495.1:c.1423A>C, XM_017029502.2:c.880A>C, XM_017029502.1:c.880A>C, XM_017029506.2:c.583A>C, XM_017029506.1:c.583A>C, XM_017030044.2:c.1423A>C, XM_017030044.1:c.1423A>C, XM_017030051.2:c.880A>C, XM_017030051.1:c.880A>C, XM_017030055.2:c.583A>C, XM_017030055.1:c.583A>C, XM_047442094.1:c.*1993A>C, XM_047442092.1:c.1294A>C, XM_047442093.1:c.*276A>C, NR_024033.1:n.1468A>C, XM_047442095.1:c.*276A>C, XM_047442734.1:c.*1993A>C, XM_047442732.1:c.1294A>C, XM_047442733.1:c.*276A>C, XM_047442735.1:c.*276A>C, NP_002177.2:p.Ser429Arg, XP_011543947.1:p.Ser476Arg, XP_011543948.1:p.Ser468Arg, XP_016885533.1:p.Ser475Arg, XP_016885540.1:p.Ser294Arg, XP_016885544.1:p.Ser195Arg, XP_047298688.1:p.Ser432Arg

                              15.

                              rs1454029966 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                Y:57196849 (GRCh38)
                                Y:59343000 (GRCh37)
                                Canonical SPDI:
                                NC_000024.10:57196848:C:T
                                Gene:
                                IL9R (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000024.10:g.57196849C>T, NC_000024.9:g.59343000C>T, NG_013238.1:g.17749C>T, NM_002186.3:c.1486C>T, NM_002186.2:c.1486C>T, NM_176786.2:c.*477C>T, NM_176786.1:c.*477C>T, NC_000023.11:g.156010329C>T, NC_000023.10:g.155239994C>T, XM_011531155.3:c.*477C>T, XM_011531151.3:c.1627C>T, XM_011531151.2:c.1627C>T, XM_011531151.1:c.1627C>T, XM_011531152.3:c.1603C>T, XM_011531152.2:c.1603C>T, XM_011531152.1:c.1603C>T, XM_011531157.3:c.*477C>T, XM_011545650.3:c.*477C>T, XM_011545645.3:c.1627C>T, XM_011545645.2:c.1627C>T, XM_011545645.1:c.1627C>T, XM_011545646.3:c.1603C>T, XM_011545646.2:c.1603C>T, XM_011545646.1:c.1603C>T, XM_011545652.3:c.*477C>T, XM_017029495.2:c.1624C>T, XM_017029495.1:c.1624C>T, XM_017029502.2:c.1081C>T, XM_017029502.1:c.1081C>T, XM_017029506.2:c.784C>T, XM_017029506.1:c.784C>T, XM_017030044.2:c.1624C>T, XM_017030044.1:c.1624C>T, XM_017030051.2:c.1081C>T, XM_017030051.1:c.1081C>T, XM_017030055.2:c.784C>T, XM_017030055.1:c.784C>T, XM_047442094.1:c.*2194C>T, XM_047442092.1:c.1495C>T, NR_024033.1:n.1669C>T, XM_047442095.1:c.*477C>T, XM_047442093.1:c.*477C>T, XM_047442734.1:c.*2194C>T, XM_047442732.1:c.1495C>T, XM_047442733.1:c.*477C>T, XM_047442735.1:c.*477C>T, NP_002177.2:p.Gln496Ter, XP_011543947.1:p.Gln543Ter, XP_011543948.1:p.Gln535Ter, XP_016885533.1:p.Gln542Ter, XP_016885540.1:p.Gln361Ter, XP_016885544.1:p.Gln262Ter, XP_047298688.1:p.Gln499Ter

                                16.

                                rs1453220099 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  Y:57196784 (GRCh38)
                                  Y:59342935 (GRCh37)
                                  Canonical SPDI:
                                  NC_000024.10:57196783:T:A
                                  Gene:
                                  IL9R (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                  HGVS:
                                  NC_000024.10:g.57196784T>A, NC_000024.9:g.59342935T>A, NG_013238.1:g.17684T>A, NM_002186.3:c.1421T>A, NM_002186.2:c.1421T>A, NM_176786.2:c.*412T>A, NM_176786.1:c.*412T>A, NC_000023.11:g.156010264T>A, NC_000023.10:g.155239929T>A, XM_011531155.3:c.*412T>A, XM_011531151.3:c.1562T>A, XM_011531151.2:c.1562T>A, XM_011531151.1:c.1562T>A, XM_011531152.3:c.1538T>A, XM_011531152.2:c.1538T>A, XM_011531152.1:c.1538T>A, XM_011531157.3:c.*412T>A, XM_011545650.3:c.*412T>A, XM_011545645.3:c.1562T>A, XM_011545645.2:c.1562T>A, XM_011545645.1:c.1562T>A, XM_011545646.3:c.1538T>A, XM_011545646.2:c.1538T>A, XM_011545646.1:c.1538T>A, XM_011545652.3:c.*412T>A, XM_017029495.2:c.1559T>A, XM_017029495.1:c.1559T>A, XM_017029502.2:c.1016T>A, XM_017029502.1:c.1016T>A, XM_017029506.2:c.719T>A, XM_017029506.1:c.719T>A, XM_017030044.2:c.1559T>A, XM_017030044.1:c.1559T>A, XM_017030051.2:c.1016T>A, XM_017030051.1:c.1016T>A, XM_017030055.2:c.719T>A, XM_017030055.1:c.719T>A, XM_047442094.1:c.*2129T>A, XM_047442092.1:c.1430T>A, NR_024033.1:n.1604T>A, XM_047442095.1:c.*412T>A, XM_047442093.1:c.*412T>A, XM_047442734.1:c.*2129T>A, XM_047442732.1:c.1430T>A, XM_047442733.1:c.*412T>A, XM_047442735.1:c.*412T>A, NP_002177.2:p.Leu474His, XP_011543947.1:p.Leu521His, XP_011543948.1:p.Leu513His, XP_016885533.1:p.Leu520His, XP_016885540.1:p.Leu339His, XP_016885544.1:p.Leu240His, XP_047298688.1:p.Leu477His

                                  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.

                                    rs1450453672 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      Y:57196631 (GRCh38)
                                      Y:59342782 (GRCh37)
                                      Canonical SPDI:
                                      NC_000024.10:57196630:C:A,NC_000024.10:57196630:C:T
                                      Gene:
                                      IL9R (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000024.10:g.57196631C>A, NC_000024.10:g.57196631C>T, NC_000024.9:g.59342782C>A, NC_000024.9:g.59342782C>T, NG_013238.1:g.17531C>A, NG_013238.1:g.17531C>T, NM_002186.3:c.1268C>A, NM_002186.3:c.1268C>T, NM_002186.2:c.1268C>A, NM_002186.2:c.1268C>T, NM_176786.2:c.*259C>A, NM_176786.2:c.*259C>T, NM_176786.1:c.*259C>A, NM_176786.1:c.*259C>T, NC_000023.11:g.156010111C>A, NC_000023.11:g.156010111C>T, NC_000023.10:g.155239776C>A, NC_000023.10:g.155239776C>T, XM_011531155.3:c.*259C>A, XM_011531155.3:c.*259C>T, XM_011531151.3:c.1409C>A, XM_011531151.3:c.1409C>T, XM_011531151.2:c.1409C>A, XM_011531151.2:c.1409C>T, XM_011531151.1:c.1409C>A, XM_011531151.1:c.1409C>T, XM_011531152.3:c.1385C>A, XM_011531152.3:c.1385C>T, XM_011531152.2:c.1385C>A, XM_011531152.2:c.1385C>T, XM_011531152.1:c.1385C>A, XM_011531152.1:c.1385C>T, XM_011531157.3:c.*259C>A, XM_011531157.3:c.*259C>T, XM_011545650.3:c.*259C>A, XM_011545650.3:c.*259C>T, XM_011545645.3:c.1409C>A, XM_011545645.3:c.1409C>T, XM_011545645.2:c.1409C>A, XM_011545645.2:c.1409C>T, XM_011545645.1:c.1409C>A, XM_011545645.1:c.1409C>T, XM_011545646.3:c.1385C>A, XM_011545646.3:c.1385C>T, XM_011545646.2:c.1385C>A, XM_011545646.2:c.1385C>T, XM_011545646.1:c.1385C>A, XM_011545646.1:c.1385C>T, XM_011545652.3:c.*259C>A, XM_011545652.3:c.*259C>T, XM_017029495.2:c.1406C>A, XM_017029495.2:c.1406C>T, XM_017029495.1:c.1406C>A, XM_017029495.1:c.1406C>T, XM_017029502.2:c.863C>A, XM_017029502.2:c.863C>T, XM_017029502.1:c.863C>A, XM_017029502.1:c.863C>T, XM_017029506.2:c.566C>A, XM_017029506.2:c.566C>T, XM_017029506.1:c.566C>A, XM_017029506.1:c.566C>T, XM_017030044.2:c.1406C>A, XM_017030044.2:c.1406C>T, XM_017030044.1:c.1406C>A, XM_017030044.1:c.1406C>T, XM_017030051.2:c.863C>A, XM_017030051.2:c.863C>T, XM_017030051.1:c.863C>A, XM_017030051.1:c.863C>T, XM_017030055.2:c.566C>A, XM_017030055.2:c.566C>T, XM_017030055.1:c.566C>A, XM_017030055.1:c.566C>T, XM_047442094.1:c.*1976C>A, XM_047442094.1:c.*1976C>T, XM_047442092.1:c.1277C>A, XM_047442092.1:c.1277C>T, XM_047442093.1:c.*259C>A, XM_047442093.1:c.*259C>T, NR_024033.1:n.1451C>A, NR_024033.1:n.1451C>T, XM_047442095.1:c.*259C>A, XM_047442095.1:c.*259C>T, XM_047442734.1:c.*1976C>A, XM_047442734.1:c.*1976C>T, XM_047442732.1:c.1277C>A, XM_047442732.1:c.1277C>T, XM_047442733.1:c.*259C>A, XM_047442733.1:c.*259C>T, XM_047442735.1:c.*259C>A, XM_047442735.1:c.*259C>T, NP_002177.2:p.Pro423His, NP_002177.2:p.Pro423Leu, XP_011543947.1:p.Pro470His, XP_011543947.1:p.Pro470Leu, XP_011543948.1:p.Pro462His, XP_011543948.1:p.Pro462Leu, XP_016885533.1:p.Pro469His, XP_016885533.1:p.Pro469Leu, XP_016885540.1:p.Pro288His, XP_016885540.1:p.Pro288Leu, XP_016885544.1:p.Pro189His, XP_016885544.1:p.Pro189Leu, XP_047298688.1:p.Pro426His, XP_047298688.1:p.Pro426Leu

                                      19.

                                      rs1445308358 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        Y:57196377 (GRCh38)
                                        Y:59342528 (GRCh37)
                                        Canonical SPDI:
                                        NC_000024.10:57196376:G:C
                                        Gene:
                                        IL9R (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000024.10:g.57196377G>C, NC_000024.9:g.59342528G>C, NG_013238.1:g.17277G>C, NM_002186.3:c.1014G>C, NM_002186.2:c.1014G>C, NM_176786.2:c.*5G>C, NM_176786.1:c.*5G>C, NC_000023.11:g.156009857G>C, NC_000023.10:g.155239522G>C, XM_011531155.3:c.*5G>C, XM_011531155.2:c.*5G>C, XM_011531155.1:c.*5G>C, XM_011531151.3:c.1155G>C, XM_011531151.2:c.1155G>C, XM_011531151.1:c.1155G>C, XM_011531152.3:c.1131G>C, XM_011531152.2:c.1131G>C, XM_011531152.1:c.1131G>C, XM_011531157.3:c.*5G>C, XM_011531157.2:c.*5G>C, XM_011531157.1:c.*5G>C, XM_011545650.3:c.*5G>C, XM_011545650.2:c.*5G>C, XM_011545650.1:c.*5G>C, XM_011545645.3:c.1155G>C, XM_011545645.2:c.1155G>C, XM_011545645.1:c.1155G>C, XM_011545646.3:c.1131G>C, XM_011545646.2:c.1131G>C, XM_011545646.1:c.1131G>C, XM_011545652.3:c.*5G>C, XM_011545652.2:c.*5G>C, XM_011545652.1:c.*5G>C, XM_017029495.2:c.1152G>C, XM_017029495.1:c.1152G>C, XM_017029502.2:c.609G>C, XM_017029502.1:c.609G>C, XM_017029506.2:c.312G>C, XM_017029506.1:c.312G>C, XM_017030044.2:c.1152G>C, XM_017030044.1:c.1152G>C, XM_017030051.2:c.609G>C, XM_017030051.1:c.609G>C, XM_017030055.2:c.312G>C, XM_017030055.1:c.312G>C, XM_047442094.1:c.*1722G>C, XM_047442093.1:c.*5G>C, XM_047442095.1:c.*5G>C, NR_024033.1:n.1197G>C, XM_047442092.1:c.1023G>C, XM_047442734.1:c.*1722G>C, XM_047442732.1:c.1023G>C, XM_047442733.1:c.*5G>C, XM_047442735.1:c.*5G>C, NP_002177.2:p.Gln338His, XP_011543947.1:p.Gln385His, XP_011543948.1:p.Gln377His, XP_016885533.1:p.Gln384His, XP_016885540.1:p.Gln203His, XP_016885544.1:p.Gln104His, XP_047298688.1:p.Gln341His

                                        20.

                                        rs1443178509 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          Y:57184294 (GRCh38)
                                          Y:59330445 (GRCh37)
                                          Canonical SPDI:
                                          NC_000024.10:57184293:A:G
                                          Gene:
                                          IL9R (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000024.10:g.57184294A>G, NC_000024.9:g.59330445A>G, NG_013238.1:g.5194A>G, NM_002186.3:c.15A>G, NM_002186.2:c.15A>G, NM_176786.2:c.31A>G, NM_176786.1:c.31A>G, NC_000023.11:g.155997774A>G, NC_000023.10:g.155227439A>G, XM_011531155.3:c.31A>G, XM_011531155.2:c.31A>G, XM_011531155.1:c.31A>G, XM_011531151.3:c.31A>G, XM_011531151.2:c.31A>G, XM_011531151.1:c.31A>G, XM_011531152.3:c.31A>G, XM_011531152.2:c.31A>G, XM_011531152.1:c.31A>G, XM_011531157.3:c.31A>G, XM_011531157.2:c.31A>G, XM_011531157.1:c.31A>G, XM_011545650.3:c.31A>G, XM_011545650.2:c.31A>G, XM_011545650.1:c.31A>G, XM_011545646.3:c.31A>G, XM_011545646.2:c.31A>G, XM_011545646.1:c.31A>G, XM_011545652.3:c.31A>G, XM_011545652.2:c.31A>G, XM_011545652.1:c.31A>G, XM_017029495.2:c.31A>G, XM_017029495.1:c.31A>G, XM_011545645.3:c.31A>G, XM_011545645.2:c.31A>G, XM_011545645.1:c.31A>G, XM_017029502.2:c.15A>G, XM_017029502.1:c.15A>G, XM_017030044.2:c.31A>G, XM_017030044.1:c.31A>G, XM_017030051.2:c.15A>G, XM_017030051.1:c.15A>G, XM_047442094.1:c.31A>G, XM_047442092.1:c.-1553A>G, XM_047442093.1:c.31A>G, NR_024033.1:n.194A>G, XM_047442095.1:c.31A>G, XM_047442734.1:c.31A>G, XM_047442732.1:c.-1553A>G, XM_047442733.1:c.31A>G, XM_047442735.1:c.31A>G, NP_789743.2:p.Met11Val, XP_011543952.1:p.Met11Val, XP_011543948.1:p.Met11Val, XP_011543954.1:p.Met11Val, XP_011543947.1:p.Met11Val, XP_016885533.1:p.Met11Val, XP_047298690.1:p.Met11Val, XP_047298689.1:p.Met11Val, XP_047298691.1:p.Met11Val

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