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Items: 1 to 20 of 794

1.

rs1490905209 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:67390069 (GRCh38)
    1:67855752 (GRCh37)
    Canonical SPDI:
    NC_000001.11:67390068:A:G
    Gene:
    IL12RB2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000111/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.67390069A>G, NC_000001.10:g.67855752A>G, NG_032977.2:g.87719A>G, NM_001559.3:c.1987A>G, NM_001559.2:c.1987A>G, NM_001374259.2:c.1987A>G, NM_001374259.1:c.1987A>G, NR_047584.1:n.2720A>G, NR_047583.1:n.2377A>G, NM_001258215.1:c.1729A>G, XM_005270828.4:c.1987A>G, XM_005270828.3:c.1987A>G, XM_005270828.2:c.1987A>G, XM_005270828.1:c.1987A>G, XM_005270827.3:c.1987A>G, XM_005270827.2:c.1987A>G, XM_005270827.1:c.1987A>G, XM_011541384.3:c.1828A>G, XM_011541384.2:c.1828A>G, XM_011541384.1:c.1828A>G, XM_006710617.3:c.1729A>G, XM_006710617.2:c.1729A>G, XM_006710617.1:c.1729A>G, XM_011541383.3:c.1987A>G, XM_011541383.2:c.1987A>G, XM_011541383.1:c.1987A>G, XM_047419665.1:c.1828A>G, XM_047419666.1:c.1828A>G, XM_047419667.1:c.1729A>G, XM_047419670.1:c.688A>G, NP_001550.1:p.Ser663Gly, NP_001361188.1:p.Ser663Gly, NP_001245144.1:p.Ser577Gly, XP_005270885.1:p.Ser663Gly, XP_005270884.1:p.Ser663Gly, XP_011539686.1:p.Ser610Gly, XP_006710680.1:p.Ser577Gly, XP_011539685.1:p.Ser663Gly, XP_047275621.1:p.Ser610Gly, XP_047275622.1:p.Ser610Gly, XP_047275623.1:p.Ser577Gly, XP_047275626.1:p.Ser230Gly

    2.

    rs1489726684 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:67380092 (GRCh38)
      1:67845775 (GRCh37)
      Canonical SPDI:
      NC_000001.11:67380091:C:T
      Gene:
      IL12RB2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
      HGVS:
      NC_000001.11:g.67380092C>T, NC_000001.10:g.67845775C>T, NG_032977.2:g.77742C>T, NM_001559.3:c.1824C>T, NM_001559.2:c.1824C>T, NM_001374259.2:c.1824C>T, NM_001374259.1:c.1824C>T, NR_047584.1:n.2464C>T, NM_001258214.1:c.1824C>T, NM_001319233.1:c.1824C>T, NM_001258216.1:c.1824C>T, NR_047583.1:n.2305C>T, NM_001258215.1:c.1566C>T, XM_005270828.4:c.1824C>T, XM_005270828.3:c.1824C>T, XM_005270828.2:c.1824C>T, XM_005270828.1:c.1824C>T, XM_005270827.3:c.1824C>T, XM_005270827.2:c.1824C>T, XM_005270827.1:c.1824C>T, XM_011541384.3:c.1665C>T, XM_011541384.2:c.1665C>T, XM_011541384.1:c.1665C>T, XM_006710617.3:c.1566C>T, XM_006710617.2:c.1566C>T, XM_006710617.1:c.1566C>T, XM_011541383.3:c.1824C>T, XM_011541383.2:c.1824C>T, XM_011541383.1:c.1824C>T, XM_017001203.2:c.1824C>T, XM_017001203.1:c.1824C>T, XM_047419668.1:c.1824C>T, XM_047419665.1:c.1665C>T, XM_047419666.1:c.1665C>T, XM_047419667.1:c.1566C>T, XM_047419669.1:c.1566C>T, XM_047419670.1:c.525C>T

      3.

      rs1489715995 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:67395817 (GRCh38)
        1:67861500 (GRCh37)
        Canonical SPDI:
        NC_000001.11:67395816:A:G
        Gene:
        IL12RB2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.67395817A>G, NC_000001.10:g.67861500A>G, NG_032977.2:g.93467A>G, NM_001559.3:c.2317A>G, NM_001559.2:c.2317A>G, NM_001374259.2:c.2317A>G, NM_001374259.1:c.2317A>G, NR_047584.1:n.3050A>G, NM_001258214.1:c.*237A>G, NM_001319233.1:c.*237A>G, NM_001258216.1:c.*218A>G, NR_047583.1:n.2707A>G, NM_001258215.1:c.2059A>G, XM_005270828.4:c.2317A>G, XM_005270828.3:c.2317A>G, XM_005270828.2:c.2317A>G, XM_005270828.1:c.2317A>G, XM_005270827.3:c.2317A>G, XM_005270827.2:c.2317A>G, XM_005270827.1:c.2317A>G, XM_011541384.3:c.2158A>G, XM_011541384.2:c.2158A>G, XM_011541384.1:c.2158A>G, XM_006710617.3:c.2059A>G, XM_006710617.2:c.2059A>G, XM_006710617.1:c.2059A>G, XM_011541383.3:c.2317A>G, XM_011541383.2:c.2317A>G, XM_011541383.1:c.2317A>G, XM_017001203.2:c.*237A>G, XM_017001203.1:c.*237A>G, XM_047419668.1:c.*237A>G, XM_047419665.1:c.2158A>G, XM_047419666.1:c.2158A>G, XM_047419667.1:c.2059A>G, XM_047419669.1:c.*237A>G, XM_047419670.1:c.1018A>G, NP_001550.1:p.Arg773Gly, NP_001361188.1:p.Arg773Gly, NP_001245144.1:p.Arg687Gly, XP_005270885.1:p.Arg773Gly, XP_005270884.1:p.Arg773Gly, XP_011539686.1:p.Arg720Gly, XP_006710680.1:p.Arg687Gly, XP_011539685.1:p.Arg773Gly, XP_047275621.1:p.Arg720Gly, XP_047275622.1:p.Arg720Gly, XP_047275623.1:p.Arg687Gly, XP_047275626.1:p.Arg340Gly

        4.

        rs1489098375 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:67367869 (GRCh38)
          1:67833552 (GRCh37)
          Canonical SPDI:
          NC_000001.11:67367868:G:A
          Gene:
          IL12RB2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.67367869G>A, NC_000001.10:g.67833552G>A, NG_032977.2:g.65519G>A, NM_001559.3:c.1303G>A, NM_001559.2:c.1303G>A, NM_001374259.2:c.1303G>A, NM_001374259.1:c.1303G>A, NR_047584.1:n.1943G>A, NM_001258214.1:c.1303G>A, NM_001319233.1:c.1303G>A, NM_001258216.1:c.1303G>A, NR_047583.1:n.1943G>A, NM_001258215.1:c.1303G>A, XM_005270828.4:c.1303G>A, XM_005270828.3:c.1303G>A, XM_005270828.2:c.1303G>A, XM_005270828.1:c.1303G>A, XM_005270827.3:c.1303G>A, XM_005270827.2:c.1303G>A, XM_005270827.1:c.1303G>A, XM_011541384.3:c.1303G>A, XM_011541384.2:c.1303G>A, XM_011541384.1:c.1303G>A, XM_006710617.3:c.1303G>A, XM_006710617.2:c.1303G>A, XM_006710617.1:c.1303G>A, XM_011541383.3:c.1303G>A, XM_011541383.2:c.1303G>A, XM_011541383.1:c.1303G>A, XM_017001203.2:c.1303G>A, XM_017001203.1:c.1303G>A, XM_047419668.1:c.1303G>A, XM_047419665.1:c.1303G>A, XM_047419666.1:c.1303G>A, XM_047419667.1:c.1303G>A, XM_047419669.1:c.1303G>A, XM_047419670.1:c.4G>A, NP_001550.1:p.Asp435Asn, NP_001361188.1:p.Asp435Asn, NP_001245143.1:p.Asp435Asn, NP_001306162.1:p.Asp435Asn, NP_001245145.1:p.Asp435Asn, NP_001245144.1:p.Asp435Asn, XP_005270885.1:p.Asp435Asn, XP_005270884.1:p.Asp435Asn, XP_011539686.1:p.Asp435Asn, XP_006710680.1:p.Asp435Asn, XP_011539685.1:p.Asp435Asn, XP_016856692.1:p.Asp435Asn, XP_047275624.1:p.Asp435Asn, XP_047275621.1:p.Asp435Asn, XP_047275622.1:p.Asp435Asn, XP_047275623.1:p.Asp435Asn, XP_047275625.1:p.Asp435Asn, XP_047275626.1:p.Asp2Asn

          5.

          rs1488479234 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:67330718 (GRCh38)
            1:67796401 (GRCh37)
            Canonical SPDI:
            NC_000001.11:67330717:A:G
            Gene:
            IL12RB2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.67330718A>G, NC_000001.10:g.67796401A>G, NG_032977.2:g.28368A>G, NM_001559.3:c.866A>G, NM_001559.2:c.866A>G, NM_001374259.2:c.866A>G, NM_001374259.1:c.866A>G, NR_047584.1:n.1506A>G, NM_001258214.1:c.866A>G, NM_001319233.1:c.866A>G, NM_001258216.1:c.866A>G, NR_047583.1:n.1506A>G, NM_001258215.1:c.866A>G, XM_005270828.4:c.866A>G, XM_005270828.3:c.866A>G, XM_005270828.2:c.866A>G, XM_005270828.1:c.866A>G, XM_005270827.3:c.866A>G, XM_005270827.2:c.866A>G, XM_005270827.1:c.866A>G, XM_011541384.3:c.866A>G, XM_011541384.2:c.866A>G, XM_011541384.1:c.866A>G, XM_006710617.3:c.866A>G, XM_006710617.2:c.866A>G, XM_006710617.1:c.866A>G, XM_011541383.3:c.866A>G, XM_011541383.2:c.866A>G, XM_011541383.1:c.866A>G, XM_017001203.2:c.866A>G, XM_017001203.1:c.866A>G, XM_047419668.1:c.866A>G, XM_047419665.1:c.866A>G, XM_047419666.1:c.866A>G, XM_047419667.1:c.866A>G, XM_047419669.1:c.866A>G, NP_001550.1:p.Glu289Gly, NP_001361188.1:p.Glu289Gly, NP_001245143.1:p.Glu289Gly, NP_001306162.1:p.Glu289Gly, NP_001245145.1:p.Glu289Gly, NP_001245144.1:p.Glu289Gly, XP_005270885.1:p.Glu289Gly, XP_005270884.1:p.Glu289Gly, XP_011539686.1:p.Glu289Gly, XP_006710680.1:p.Glu289Gly, XP_011539685.1:p.Glu289Gly, XP_016856692.1:p.Glu289Gly, XP_047275624.1:p.Glu289Gly, XP_047275621.1:p.Glu289Gly, XP_047275622.1:p.Glu289Gly, XP_047275623.1:p.Glu289Gly, XP_047275625.1:p.Glu289Gly

            6.

            rs1488119737 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:67350887 (GRCh38)
              1:67816570 (GRCh37)
              Canonical SPDI:
              NC_000001.11:67350886:G:A
              Gene:
              IL12RB2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.67350887G>A, NC_000001.10:g.67816570G>A, NG_032977.2:g.48537G>A, NM_001559.3:c.1056G>A, NM_001559.2:c.1056G>A, NM_001374259.2:c.1056G>A, NM_001374259.1:c.1056G>A, NR_047584.1:n.1696G>A, NM_001258214.1:c.1056G>A, NM_001319233.1:c.1056G>A, NM_001258216.1:c.1056G>A, NR_047583.1:n.1696G>A, NM_001258215.1:c.1056G>A, XM_005270828.4:c.1056G>A, XM_005270828.3:c.1056G>A, XM_005270828.2:c.1056G>A, XM_005270828.1:c.1056G>A, XM_005270827.3:c.1056G>A, XM_005270827.2:c.1056G>A, XM_005270827.1:c.1056G>A, XM_011541384.3:c.1056G>A, XM_011541384.2:c.1056G>A, XM_011541384.1:c.1056G>A, XM_006710617.3:c.1056G>A, XM_006710617.2:c.1056G>A, XM_006710617.1:c.1056G>A, XM_011541383.3:c.1056G>A, XM_011541383.2:c.1056G>A, XM_011541383.1:c.1056G>A, XM_017001203.2:c.1056G>A, XM_017001203.1:c.1056G>A, XM_047419668.1:c.1056G>A, XM_047419665.1:c.1056G>A, XM_047419666.1:c.1056G>A, XM_047419667.1:c.1056G>A, XM_047419669.1:c.1056G>A

              7.

              rs1486871467 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:67320413 (GRCh38)
                1:67786096 (GRCh37)
                Canonical SPDI:
                NC_000001.11:67320412:A:G
                Gene:
                IL12RB2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                HGVS:
                NC_000001.11:g.67320413A>G, NC_000001.10:g.67786096A>G, NG_032977.2:g.18063A>G, NM_001559.3:c.45A>G, NM_001559.2:c.45A>G, NM_001374259.2:c.45A>G, NM_001374259.1:c.45A>G, NR_047584.1:n.685A>G, NM_001258214.1:c.45A>G, NM_001319233.1:c.45A>G, NM_001258216.1:c.45A>G, NR_047583.1:n.685A>G, NM_001258215.1:c.45A>G, XM_005270828.4:c.45A>G, XM_005270828.3:c.45A>G, XM_005270828.2:c.45A>G, XM_005270828.1:c.45A>G, XM_005270827.3:c.45A>G, XM_005270827.2:c.45A>G, XM_005270827.1:c.45A>G, XM_011541384.3:c.45A>G, XM_011541384.2:c.45A>G, XM_011541384.1:c.45A>G, XM_006710617.3:c.45A>G, XM_006710617.2:c.45A>G, XM_006710617.1:c.45A>G, XM_011541383.3:c.45A>G, XM_011541383.2:c.45A>G, XM_011541383.1:c.45A>G, XM_017001203.2:c.45A>G, XM_017001203.1:c.45A>G, XM_047419668.1:c.45A>G, XM_047419665.1:c.45A>G, XM_047419666.1:c.45A>G, XM_047419667.1:c.45A>G, XM_047419669.1:c.45A>G, NP_001550.1:p.Ile15Met, NP_001361188.1:p.Ile15Met, NP_001245143.1:p.Ile15Met, NP_001306162.1:p.Ile15Met, NP_001245145.1:p.Ile15Met, NP_001245144.1:p.Ile15Met, XP_005270885.1:p.Ile15Met, XP_005270884.1:p.Ile15Met, XP_011539686.1:p.Ile15Met, XP_006710680.1:p.Ile15Met, XP_011539685.1:p.Ile15Met, XP_016856692.1:p.Ile15Met, XP_047275624.1:p.Ile15Met, XP_047275621.1:p.Ile15Met, XP_047275622.1:p.Ile15Met, XP_047275623.1:p.Ile15Met, XP_047275625.1:p.Ile15Met

                8.

                rs1485730700 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:67328205 (GRCh38)
                  1:67793888 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:67328204:G:T
                  Gene:
                  IL12RB2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.67328205G>T, NC_000001.10:g.67793888G>T, NG_032977.2:g.25855G>T, NM_001559.3:c.485G>T, NM_001559.2:c.485G>T, NM_001374259.2:c.485G>T, NM_001374259.1:c.485G>T, NR_047584.1:n.1125G>T, NM_001258214.1:c.485G>T, NM_001319233.1:c.485G>T, NM_001258216.1:c.485G>T, NR_047583.1:n.1125G>T, NM_001258215.1:c.485G>T, XM_005270828.4:c.485G>T, XM_005270828.3:c.485G>T, XM_005270828.2:c.485G>T, XM_005270828.1:c.485G>T, XM_005270827.3:c.485G>T, XM_005270827.2:c.485G>T, XM_005270827.1:c.485G>T, XM_011541384.3:c.485G>T, XM_011541384.2:c.485G>T, XM_011541384.1:c.485G>T, XM_006710617.3:c.485G>T, XM_006710617.2:c.485G>T, XM_006710617.1:c.485G>T, XM_011541383.3:c.485G>T, XM_011541383.2:c.485G>T, XM_011541383.1:c.485G>T, XM_017001203.2:c.485G>T, XM_017001203.1:c.485G>T, XM_047419668.1:c.485G>T, XM_047419665.1:c.485G>T, XM_047419666.1:c.485G>T, XM_047419667.1:c.485G>T, XM_047419669.1:c.485G>T, NP_001550.1:p.Ser162Ile, NP_001361188.1:p.Ser162Ile, NP_001245143.1:p.Ser162Ile, NP_001306162.1:p.Ser162Ile, NP_001245145.1:p.Ser162Ile, NP_001245144.1:p.Ser162Ile, XP_005270885.1:p.Ser162Ile, XP_005270884.1:p.Ser162Ile, XP_011539686.1:p.Ser162Ile, XP_006710680.1:p.Ser162Ile, XP_011539685.1:p.Ser162Ile, XP_016856692.1:p.Ser162Ile, XP_047275624.1:p.Ser162Ile, XP_047275621.1:p.Ser162Ile, XP_047275622.1:p.Ser162Ile, XP_047275623.1:p.Ser162Ile, XP_047275625.1:p.Ser162Ile

                  9.

                  rs1485557856 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    1:67330801 (GRCh38)
                    1:67796484 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:67330800:C:A
                    Gene:
                    IL12RB2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000001.11:g.67330801C>A, NC_000001.10:g.67796484C>A, NG_032977.2:g.28451C>A, NM_001559.3:c.949C>A, NM_001559.2:c.949C>A, NM_001374259.2:c.949C>A, NM_001374259.1:c.949C>A, NR_047584.1:n.1589C>A, NM_001258214.1:c.949C>A, NM_001319233.1:c.949C>A, NM_001258216.1:c.949C>A, NR_047583.1:n.1589C>A, NM_001258215.1:c.949C>A, XM_005270828.4:c.949C>A, XM_005270828.3:c.949C>A, XM_005270828.2:c.949C>A, XM_005270828.1:c.949C>A, XM_005270827.3:c.949C>A, XM_005270827.2:c.949C>A, XM_005270827.1:c.949C>A, XM_011541384.3:c.949C>A, XM_011541384.2:c.949C>A, XM_011541384.1:c.949C>A, XM_006710617.3:c.949C>A, XM_006710617.2:c.949C>A, XM_006710617.1:c.949C>A, XM_011541383.3:c.949C>A, XM_011541383.2:c.949C>A, XM_011541383.1:c.949C>A, XM_017001203.2:c.949C>A, XM_017001203.1:c.949C>A, XM_047419668.1:c.949C>A, XM_047419665.1:c.949C>A, XM_047419666.1:c.949C>A, XM_047419667.1:c.949C>A, XM_047419669.1:c.949C>A, NP_001550.1:p.Pro317Thr, NP_001361188.1:p.Pro317Thr, NP_001245143.1:p.Pro317Thr, NP_001306162.1:p.Pro317Thr, NP_001245145.1:p.Pro317Thr, NP_001245144.1:p.Pro317Thr, XP_005270885.1:p.Pro317Thr, XP_005270884.1:p.Pro317Thr, XP_011539686.1:p.Pro317Thr, XP_006710680.1:p.Pro317Thr, XP_011539685.1:p.Pro317Thr, XP_016856692.1:p.Pro317Thr, XP_047275624.1:p.Pro317Thr, XP_047275621.1:p.Pro317Thr, XP_047275622.1:p.Pro317Thr, XP_047275623.1:p.Pro317Thr, XP_047275625.1:p.Pro317Thr

                    10.

                    rs1485078302 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:67320432 (GRCh38)
                      1:67786115 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:67320431:A:G
                      Gene:
                      IL12RB2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.67320432A>G, NC_000001.10:g.67786115A>G, NG_032977.2:g.18082A>G, NM_001559.3:c.64A>G, NM_001559.2:c.64A>G, NM_001374259.2:c.64A>G, NM_001374259.1:c.64A>G, NR_047584.1:n.704A>G, NM_001258214.1:c.64A>G, NM_001319233.1:c.64A>G, NM_001258216.1:c.64A>G, NR_047583.1:n.704A>G, NM_001258215.1:c.64A>G, XM_005270828.4:c.64A>G, XM_005270828.3:c.64A>G, XM_005270828.2:c.64A>G, XM_005270828.1:c.64A>G, XM_005270827.3:c.64A>G, XM_005270827.2:c.64A>G, XM_005270827.1:c.64A>G, XM_011541384.3:c.64A>G, XM_011541384.2:c.64A>G, XM_011541384.1:c.64A>G, XM_006710617.3:c.64A>G, XM_006710617.2:c.64A>G, XM_006710617.1:c.64A>G, XM_011541383.3:c.64A>G, XM_011541383.2:c.64A>G, XM_011541383.1:c.64A>G, XM_017001203.2:c.64A>G, XM_017001203.1:c.64A>G, XM_047419668.1:c.64A>G, XM_047419665.1:c.64A>G, XM_047419666.1:c.64A>G, XM_047419667.1:c.64A>G, XM_047419669.1:c.64A>G, NP_001550.1:p.Lys22Glu, NP_001361188.1:p.Lys22Glu, NP_001245143.1:p.Lys22Glu, NP_001306162.1:p.Lys22Glu, NP_001245145.1:p.Lys22Glu, NP_001245144.1:p.Lys22Glu, XP_005270885.1:p.Lys22Glu, XP_005270884.1:p.Lys22Glu, XP_011539686.1:p.Lys22Glu, XP_006710680.1:p.Lys22Glu, XP_011539685.1:p.Lys22Glu, XP_016856692.1:p.Lys22Glu, XP_047275624.1:p.Lys22Glu, XP_047275621.1:p.Lys22Glu, XP_047275622.1:p.Lys22Glu, XP_047275623.1:p.Lys22Glu, XP_047275625.1:p.Lys22Glu

                      11.

                      rs1484751047 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:67321866 (GRCh38)
                        1:67787549 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:67321865:G:A
                        Gene:
                        IL12RB2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.67321866G>A, NC_000001.10:g.67787549G>A, NG_032977.2:g.19516G>A, NM_001559.3:c.341G>A, NM_001559.2:c.341G>A, NM_001374259.2:c.341G>A, NM_001374259.1:c.341G>A, NR_047584.1:n.981G>A, NM_001258214.1:c.341G>A, NM_001319233.1:c.341G>A, NM_001258216.1:c.341G>A, NR_047583.1:n.981G>A, NM_001258215.1:c.341G>A, XM_005270828.4:c.341G>A, XM_005270828.3:c.341G>A, XM_005270828.2:c.341G>A, XM_005270828.1:c.341G>A, XM_005270827.3:c.341G>A, XM_005270827.2:c.341G>A, XM_005270827.1:c.341G>A, XM_011541384.3:c.341G>A, XM_011541384.2:c.341G>A, XM_011541384.1:c.341G>A, XM_006710617.3:c.341G>A, XM_006710617.2:c.341G>A, XM_006710617.1:c.341G>A, XM_011541383.3:c.341G>A, XM_011541383.2:c.341G>A, XM_011541383.1:c.341G>A, XM_017001203.2:c.341G>A, XM_017001203.1:c.341G>A, XM_047419668.1:c.341G>A, XM_047419665.1:c.341G>A, XM_047419666.1:c.341G>A, XM_047419667.1:c.341G>A, XM_047419669.1:c.341G>A, NP_001550.1:p.Cys114Tyr, NP_001361188.1:p.Cys114Tyr, NP_001245143.1:p.Cys114Tyr, NP_001306162.1:p.Cys114Tyr, NP_001245145.1:p.Cys114Tyr, NP_001245144.1:p.Cys114Tyr, XP_005270885.1:p.Cys114Tyr, XP_005270884.1:p.Cys114Tyr, XP_011539686.1:p.Cys114Tyr, XP_006710680.1:p.Cys114Tyr, XP_011539685.1:p.Cys114Tyr, XP_016856692.1:p.Cys114Tyr, XP_047275624.1:p.Cys114Tyr, XP_047275621.1:p.Cys114Tyr, XP_047275622.1:p.Cys114Tyr, XP_047275623.1:p.Cys114Tyr, XP_047275625.1:p.Cys114Tyr

                        12.

                        rs1483434216 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:67386622 (GRCh38)
                          1:67852305 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:67386621:T:C
                          Gene:
                          IL12RB2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.67386622T>C, NC_000001.10:g.67852305T>C, NG_032977.2:g.84272T>C, NM_001559.3:c.1899T>C, NM_001559.2:c.1899T>C, NM_001374259.2:c.1899T>C, NM_001374259.1:c.1899T>C, NR_047584.1:n.2539T>C, NM_001258214.1:c.1899T>C, NM_001319233.1:c.1899T>C, NM_001258215.1:c.1641T>C, XM_005270828.4:c.1899T>C, XM_005270828.3:c.1899T>C, XM_005270828.2:c.1899T>C, XM_005270828.1:c.1899T>C, XM_005270827.3:c.1899T>C, XM_005270827.2:c.1899T>C, XM_005270827.1:c.1899T>C, XM_011541384.3:c.1740T>C, XM_011541384.2:c.1740T>C, XM_011541384.1:c.1740T>C, XM_006710617.3:c.1641T>C, XM_006710617.2:c.1641T>C, XM_006710617.1:c.1641T>C, XM_011541383.3:c.1899T>C, XM_011541383.2:c.1899T>C, XM_011541383.1:c.1899T>C, XM_017001203.2:c.1899T>C, XM_017001203.1:c.1899T>C, XM_047419668.1:c.1899T>C, XM_047419665.1:c.1740T>C, XM_047419666.1:c.1740T>C, XM_047419667.1:c.1641T>C, XM_047419669.1:c.1641T>C, XM_047419670.1:c.600T>C

                          13.

                          rs1478650119 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:67380105 (GRCh38)
                            1:67845788 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:67380104:A:G
                            Gene:
                            IL12RB2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.67380105A>G, NC_000001.10:g.67845788A>G, NG_032977.2:g.77755A>G, NM_001559.3:c.1837A>G, NM_001559.2:c.1837A>G, NM_001374259.2:c.1837A>G, NM_001374259.1:c.1837A>G, NR_047584.1:n.2477A>G, NM_001258214.1:c.1837A>G, NM_001319233.1:c.1837A>G, NM_001258216.1:c.1837A>G, NR_047583.1:n.2318A>G, NM_001258215.1:c.1579A>G, XM_005270828.4:c.1837A>G, XM_005270828.3:c.1837A>G, XM_005270828.2:c.1837A>G, XM_005270828.1:c.1837A>G, XM_005270827.3:c.1837A>G, XM_005270827.2:c.1837A>G, XM_005270827.1:c.1837A>G, XM_011541384.3:c.1678A>G, XM_011541384.2:c.1678A>G, XM_011541384.1:c.1678A>G, XM_006710617.3:c.1579A>G, XM_006710617.2:c.1579A>G, XM_006710617.1:c.1579A>G, XM_011541383.3:c.1837A>G, XM_011541383.2:c.1837A>G, XM_011541383.1:c.1837A>G, XM_017001203.2:c.1837A>G, XM_017001203.1:c.1837A>G, XM_047419668.1:c.1837A>G, XM_047419665.1:c.1678A>G, XM_047419666.1:c.1678A>G, XM_047419667.1:c.1579A>G, XM_047419669.1:c.1579A>G, XM_047419670.1:c.538A>G, NP_001550.1:p.Arg613Gly, NP_001361188.1:p.Arg613Gly, NP_001245143.1:p.Arg613Gly, NP_001306162.1:p.Arg613Gly, NP_001245145.1:p.Arg613Gly, NP_001245144.1:p.Arg527Gly, XP_005270885.1:p.Arg613Gly, XP_005270884.1:p.Arg613Gly, XP_011539686.1:p.Arg560Gly, XP_006710680.1:p.Arg527Gly, XP_011539685.1:p.Arg613Gly, XP_016856692.1:p.Arg613Gly, XP_047275624.1:p.Arg613Gly, XP_047275621.1:p.Arg560Gly, XP_047275622.1:p.Arg560Gly, XP_047275623.1:p.Arg527Gly, XP_047275625.1:p.Arg527Gly, XP_047275626.1:p.Arg180Gly

                            14.

                            rs1478327103 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:67390074 (GRCh38)
                              1:67855757 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:67390073:A:G
                              Gene:
                              IL12RB2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1478254838 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:67372479 (GRCh38)
                                1:67838162 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:67372478:A:G
                                Gene:
                                IL12RB2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1476341946 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:67395764 (GRCh38)
                                  1:67861447 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:67395763:C:T
                                  Gene:
                                  IL12RB2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000047/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.67395764C>T, NC_000001.10:g.67861447C>T, NG_032977.2:g.93414C>T, NM_001559.3:c.2264C>T, NM_001559.2:c.2264C>T, NM_001374259.2:c.2264C>T, NM_001374259.1:c.2264C>T, NR_047584.1:n.2997C>T, NM_001258214.1:c.*184C>T, NM_001319233.1:c.*184C>T, NM_001258216.1:c.*165C>T, NR_047583.1:n.2654C>T, NM_001258215.1:c.2006C>T, XM_005270828.4:c.2264C>T, XM_005270828.3:c.2264C>T, XM_005270828.2:c.2264C>T, XM_005270828.1:c.2264C>T, XM_005270827.3:c.2264C>T, XM_005270827.2:c.2264C>T, XM_005270827.1:c.2264C>T, XM_011541384.3:c.2105C>T, XM_011541384.2:c.2105C>T, XM_011541384.1:c.2105C>T, XM_006710617.3:c.2006C>T, XM_006710617.2:c.2006C>T, XM_006710617.1:c.2006C>T, XM_011541383.3:c.2264C>T, XM_011541383.2:c.2264C>T, XM_011541383.1:c.2264C>T, XM_017001203.2:c.*184C>T, XM_017001203.1:c.*184C>T, XM_047419668.1:c.*184C>T, XM_047419665.1:c.2105C>T, XM_047419666.1:c.2105C>T, XM_047419667.1:c.2006C>T, XM_047419669.1:c.*184C>T, XM_047419670.1:c.965C>T, NP_001550.1:p.Ala755Val, NP_001361188.1:p.Ala755Val, NP_001245144.1:p.Ala669Val, XP_005270885.1:p.Ala755Val, XP_005270884.1:p.Ala755Val, XP_011539686.1:p.Ala702Val, XP_006710680.1:p.Ala669Val, XP_011539685.1:p.Ala755Val, XP_047275621.1:p.Ala702Val, XP_047275622.1:p.Ala702Val, XP_047275623.1:p.Ala669Val, XP_047275626.1:p.Ala322Val

                                  17.

                                  rs1475762151 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:67350879 (GRCh38)
                                    1:67816562 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:67350878:G:A
                                    Gene:
                                    IL12RB2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    NC_000001.11:g.67350879G>A, NC_000001.10:g.67816562G>A, NG_032977.2:g.48529G>A, NM_001559.3:c.1048G>A, NM_001559.2:c.1048G>A, NM_001374259.2:c.1048G>A, NM_001374259.1:c.1048G>A, NR_047584.1:n.1688G>A, NM_001258214.1:c.1048G>A, NM_001319233.1:c.1048G>A, NM_001258216.1:c.1048G>A, NR_047583.1:n.1688G>A, NM_001258215.1:c.1048G>A, XM_005270828.4:c.1048G>A, XM_005270828.3:c.1048G>A, XM_005270828.2:c.1048G>A, XM_005270828.1:c.1048G>A, XM_005270827.3:c.1048G>A, XM_005270827.2:c.1048G>A, XM_005270827.1:c.1048G>A, XM_011541384.3:c.1048G>A, XM_011541384.2:c.1048G>A, XM_011541384.1:c.1048G>A, XM_006710617.3:c.1048G>A, XM_006710617.2:c.1048G>A, XM_006710617.1:c.1048G>A, XM_011541383.3:c.1048G>A, XM_011541383.2:c.1048G>A, XM_011541383.1:c.1048G>A, XM_017001203.2:c.1048G>A, XM_017001203.1:c.1048G>A, XM_047419668.1:c.1048G>A, XM_047419665.1:c.1048G>A, XM_047419666.1:c.1048G>A, XM_047419667.1:c.1048G>A, XM_047419669.1:c.1048G>A, NP_001550.1:p.Val350Ile, NP_001361188.1:p.Val350Ile, NP_001245143.1:p.Val350Ile, NP_001306162.1:p.Val350Ile, NP_001245145.1:p.Val350Ile, NP_001245144.1:p.Val350Ile, XP_005270885.1:p.Val350Ile, XP_005270884.1:p.Val350Ile, XP_011539686.1:p.Val350Ile, XP_006710680.1:p.Val350Ile, XP_011539685.1:p.Val350Ile, XP_016856692.1:p.Val350Ile, XP_047275624.1:p.Val350Ile, XP_047275621.1:p.Val350Ile, XP_047275622.1:p.Val350Ile, XP_047275623.1:p.Val350Ile, XP_047275625.1:p.Val350Ile

                                    18.

                                    rs1475315532 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      1:67330763 (GRCh38)
                                      1:67796446 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:67330762:G:A,NC_000001.11:67330762:G:T
                                      Gene:
                                      IL12RB2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000106/2 (TOMMO)
                                      HGVS:
                                      NC_000001.11:g.67330763G>A, NC_000001.11:g.67330763G>T, NC_000001.10:g.67796446G>A, NC_000001.10:g.67796446G>T, NG_032977.2:g.28413G>A, NG_032977.2:g.28413G>T, NM_001559.3:c.911G>A, NM_001559.3:c.911G>T, NM_001559.2:c.911G>A, NM_001559.2:c.911G>T, NM_001374259.2:c.911G>A, NM_001374259.2:c.911G>T, NM_001374259.1:c.911G>A, NM_001374259.1:c.911G>T, NR_047584.1:n.1551G>A, NR_047584.1:n.1551G>T, NM_001258214.1:c.911G>A, NM_001258214.1:c.911G>T, NM_001319233.1:c.911G>A, NM_001319233.1:c.911G>T, NM_001258216.1:c.911G>A, NM_001258216.1:c.911G>T, NR_047583.1:n.1551G>A, NR_047583.1:n.1551G>T, NM_001258215.1:c.911G>A, NM_001258215.1:c.911G>T, XM_005270828.4:c.911G>A, XM_005270828.4:c.911G>T, XM_005270828.3:c.911G>A, XM_005270828.3:c.911G>T, XM_005270828.2:c.911G>A, XM_005270828.2:c.911G>T, XM_005270828.1:c.911G>A, XM_005270828.1:c.911G>T, XM_005270827.3:c.911G>A, XM_005270827.3:c.911G>T, XM_005270827.2:c.911G>A, XM_005270827.2:c.911G>T, XM_005270827.1:c.911G>A, XM_005270827.1:c.911G>T, XM_011541384.3:c.911G>A, XM_011541384.3:c.911G>T, XM_011541384.2:c.911G>A, XM_011541384.2:c.911G>T, XM_011541384.1:c.911G>A, XM_011541384.1:c.911G>T, XM_006710617.3:c.911G>A, XM_006710617.3:c.911G>T, XM_006710617.2:c.911G>A, XM_006710617.2:c.911G>T, XM_006710617.1:c.911G>A, XM_006710617.1:c.911G>T, XM_011541383.3:c.911G>A, XM_011541383.3:c.911G>T, XM_011541383.2:c.911G>A, XM_011541383.2:c.911G>T, XM_011541383.1:c.911G>A, XM_011541383.1:c.911G>T, XM_017001203.2:c.911G>A, XM_017001203.2:c.911G>T, XM_017001203.1:c.911G>A, XM_017001203.1:c.911G>T, XM_047419668.1:c.911G>A, XM_047419668.1:c.911G>T, XM_047419665.1:c.911G>A, XM_047419665.1:c.911G>T, XM_047419666.1:c.911G>A, XM_047419666.1:c.911G>T, XM_047419667.1:c.911G>A, XM_047419667.1:c.911G>T, XM_047419669.1:c.911G>A, XM_047419669.1:c.911G>T, NP_001550.1:p.Ser304Asn, NP_001550.1:p.Ser304Ile, NP_001361188.1:p.Ser304Asn, NP_001361188.1:p.Ser304Ile, NP_001245143.1:p.Ser304Asn, NP_001245143.1:p.Ser304Ile, NP_001306162.1:p.Ser304Asn, NP_001306162.1:p.Ser304Ile, NP_001245145.1:p.Ser304Asn, NP_001245145.1:p.Ser304Ile, NP_001245144.1:p.Ser304Asn, NP_001245144.1:p.Ser304Ile, XP_005270885.1:p.Ser304Asn, XP_005270885.1:p.Ser304Ile, XP_005270884.1:p.Ser304Asn, XP_005270884.1:p.Ser304Ile, XP_011539686.1:p.Ser304Asn, XP_011539686.1:p.Ser304Ile, XP_006710680.1:p.Ser304Asn, XP_006710680.1:p.Ser304Ile, XP_011539685.1:p.Ser304Asn, XP_011539685.1:p.Ser304Ile, XP_016856692.1:p.Ser304Asn, XP_016856692.1:p.Ser304Ile, XP_047275624.1:p.Ser304Asn, XP_047275624.1:p.Ser304Ile, XP_047275621.1:p.Ser304Asn, XP_047275621.1:p.Ser304Ile, XP_047275622.1:p.Ser304Asn, XP_047275622.1:p.Ser304Ile, XP_047275623.1:p.Ser304Asn, XP_047275623.1:p.Ser304Ile, XP_047275625.1:p.Ser304Asn, XP_047275625.1:p.Ser304Ile

                                      19.

                                      rs1473521376 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:67329593 (GRCh38)
                                        1:67795276 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:67329592:C:T
                                        Gene:
                                        IL12RB2 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.67329593C>T, NC_000001.10:g.67795276C>T, NG_032977.2:g.27243C>T, NM_001559.3:c.671C>T, NM_001559.2:c.671C>T, NM_001374259.2:c.671C>T, NM_001374259.1:c.671C>T, NR_047584.1:n.1311C>T, NM_001258214.1:c.671C>T, NM_001319233.1:c.671C>T, NM_001258216.1:c.671C>T, NR_047583.1:n.1311C>T, NM_001258215.1:c.671C>T, XM_005270828.4:c.671C>T, XM_005270828.3:c.671C>T, XM_005270828.2:c.671C>T, XM_005270828.1:c.671C>T, XM_005270827.3:c.671C>T, XM_005270827.2:c.671C>T, XM_005270827.1:c.671C>T, XM_011541384.3:c.671C>T, XM_011541384.2:c.671C>T, XM_011541384.1:c.671C>T, XM_006710617.3:c.671C>T, XM_006710617.2:c.671C>T, XM_006710617.1:c.671C>T, XM_011541383.3:c.671C>T, XM_011541383.2:c.671C>T, XM_011541383.1:c.671C>T, XM_017001203.2:c.671C>T, XM_017001203.1:c.671C>T, XM_047419668.1:c.671C>T, XM_047419665.1:c.671C>T, XM_047419666.1:c.671C>T, XM_047419667.1:c.671C>T, XM_047419669.1:c.671C>T, NP_001550.1:p.Pro224Leu, NP_001361188.1:p.Pro224Leu, NP_001245143.1:p.Pro224Leu, NP_001306162.1:p.Pro224Leu, NP_001245145.1:p.Pro224Leu, NP_001245144.1:p.Pro224Leu, XP_005270885.1:p.Pro224Leu, XP_005270884.1:p.Pro224Leu, XP_011539686.1:p.Pro224Leu, XP_006710680.1:p.Pro224Leu, XP_011539685.1:p.Pro224Leu, XP_016856692.1:p.Pro224Leu, XP_047275624.1:p.Pro224Leu, XP_047275621.1:p.Pro224Leu, XP_047275622.1:p.Pro224Leu, XP_047275623.1:p.Pro224Leu, XP_047275625.1:p.Pro224Leu

                                        20.

                                        rs1472812376 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:67386591 (GRCh38)
                                          1:67852274 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:67386590:G:A
                                          Gene:
                                          IL12RB2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000342/1 (KOREAN)
                                          HGVS:
                                          NC_000001.11:g.67386591G>A, NC_000001.10:g.67852274G>A, NG_032977.2:g.84241G>A, NM_001559.3:c.1868G>A, NM_001559.2:c.1868G>A, NM_001374259.2:c.1868G>A, NM_001374259.1:c.1868G>A, NR_047584.1:n.2508G>A, NM_001258214.1:c.1868G>A, NM_001319233.1:c.1868G>A, NM_001258215.1:c.1610G>A, XM_005270828.4:c.1868G>A, XM_005270828.3:c.1868G>A, XM_005270828.2:c.1868G>A, XM_005270828.1:c.1868G>A, XM_005270827.3:c.1868G>A, XM_005270827.2:c.1868G>A, XM_005270827.1:c.1868G>A, XM_011541384.3:c.1709G>A, XM_011541384.2:c.1709G>A, XM_011541384.1:c.1709G>A, XM_006710617.3:c.1610G>A, XM_006710617.2:c.1610G>A, XM_006710617.1:c.1610G>A, XM_011541383.3:c.1868G>A, XM_011541383.2:c.1868G>A, XM_011541383.1:c.1868G>A, XM_017001203.2:c.1868G>A, XM_017001203.1:c.1868G>A, XM_047419668.1:c.1868G>A, XM_047419665.1:c.1709G>A, XM_047419666.1:c.1709G>A, XM_047419667.1:c.1610G>A, XM_047419669.1:c.1610G>A, XM_047419670.1:c.569G>A, NP_001550.1:p.Trp623Ter, NP_001361188.1:p.Trp623Ter, NP_001245143.1:p.Trp623Ter, NP_001306162.1:p.Trp623Ter, NP_001245144.1:p.Trp537Ter, XP_005270885.1:p.Trp623Ter, XP_005270884.1:p.Trp623Ter, XP_011539686.1:p.Trp570Ter, XP_006710680.1:p.Trp537Ter, XP_011539685.1:p.Trp623Ter, XP_016856692.1:p.Trp623Ter, XP_047275624.1:p.Trp623Ter, XP_047275621.1:p.Trp570Ter, XP_047275622.1:p.Trp570Ter, XP_047275623.1:p.Trp537Ter, XP_047275625.1:p.Trp537Ter, XP_047275626.1:p.Trp190Ter

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