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Items: 1 to 20 of 1330

1.

rs1491483444 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAAAAAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAA,AAACAAAAACAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    X:111220946 (GRCh38)
    X:110464175 (GRCh37)
    Canonical SPDI:
    NC_000023.11:111220946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAAAAAAAAAAAAA,NC_000023.11:111220946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAA,NC_000023.11:111220946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAACAAAAACAAAAAAAAAAAAAAAA
    Gene:
    PAK3 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
    HGVS:
    NC_000023.11:g.111220947_111220962A[46]GCAAAAAAAAAAAAAAAA[1], NC_000023.11:g.111220947_111220962A[25]CAAAAAAAAAAAAAAAA[1], NC_000023.11:g.111220947_111220962A[19]CAAAAA[2]A[11], NC_000023.10:g.110464175_110464190A[46]GCAAAAAAAAAAAAAAAA[1], NC_000023.10:g.110464175_110464190A[25]CAAAAAAAAAAAAAAAA[1], NC_000023.10:g.110464175_110464190A[19]CAAAAA[2]A[11], NG_008288.2:g.281663_281678A[46]GCAAAAAAAAAAAAAAAA[1], NG_008288.2:g.281663_281678A[25]CAAAAAAAAAAAAAAAA[1], NG_008288.2:g.281663_281678A[19]CAAAAA[2]A[11], NM_002578.5:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_002578.5:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_002578.5:c.*500_*515A[19]CAAAAA[2]A[11], NM_002578.4:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_002578.4:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_002578.4:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128168.3:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128168.3:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128168.3:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128168.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128168.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128168.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128173.3:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128173.3:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128173.3:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128173.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128173.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128173.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128166.3:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128166.3:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128166.3:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128166.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128166.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128166.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128167.3:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128167.3:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128167.3:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128167.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128167.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128167.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324329.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324329.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324329.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324329.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324329.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324329.1:c.*500_*515A[19]CAAAAA[2]A[11], NR_136747.2:n.2739_2754A[46]GCAAAAAAAAAAAAAAAA[1], NR_136747.2:n.2739_2754A[25]CAAAAAAAAAAAAAAAA[1], NR_136747.2:n.2739_2754A[19]CAAAAA[2]A[11], NR_136747.1:n.2788_2803A[46]GCAAAAAAAAAAAAAAAA[1], NR_136747.1:n.2788_2803A[25]CAAAAAAAAAAAAAAAA[1], NR_136747.1:n.2788_2803A[19]CAAAAA[2]A[11], NM_001324332.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324332.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324332.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324332.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324332.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324332.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324333.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324333.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324333.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324333.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324333.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324333.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324334.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324334.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324334.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324334.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324334.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324334.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324327.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324327.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324327.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324327.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324327.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324327.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324331.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324331.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324331.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324331.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324331.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324331.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324325.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324325.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324325.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324325.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324325.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324325.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324330.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324330.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324330.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324330.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324330.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324330.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324328.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324328.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324328.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324328.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324328.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324328.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324326.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324326.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324326.2:c.*500_*515A[19]CAAAAA[2]A[11], NM_001324326.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001324326.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001324326.1:c.*500_*515A[19]CAAAAA[2]A[11], NM_001128172.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], NM_001128172.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], NM_001128172.2:c.*500_*515A[19]CAAAAA[2]A[11], NR_136748.1:n.2423_2438A[46]GCAAAAAAAAAAAAAAAA[1], NR_136748.1:n.2423_2438A[25]CAAAAAAAAAAAAAAAA[1], NR_136748.1:n.2423_2438A[19]CAAAAA[2]A[11], XM_017029563.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], XM_017029563.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], XM_017029563.2:c.*500_*515A[19]CAAAAA[2]A[11], XM_017029563.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], XM_017029563.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], XM_017029563.1:c.*500_*515A[19]CAAAAA[2]A[11], XM_017029557.2:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], XM_017029557.2:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], XM_017029557.2:c.*500_*515A[19]CAAAAA[2]A[11], XM_017029557.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], XM_017029557.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], XM_017029557.1:c.*500_*515A[19]CAAAAA[2]A[11], XM_047442150.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], XM_047442150.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], XM_047442150.1:c.*500_*515A[19]CAAAAA[2]A[11], XM_047442148.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], XM_047442148.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], XM_047442148.1:c.*500_*515A[19]CAAAAA[2]A[11], XM_047442149.1:c.*500_*515A[46]GCAAAAAAAAAAAAAAAA[1], XM_047442149.1:c.*500_*515A[25]CAAAAAAAAAAAAAAAA[1], XM_047442149.1:c.*500_*515A[19]CAAAAA[2]A[11]

    2.

    Error occurred: cannot get document summary

    3.

    rs1489599378 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      X:111226039 (GRCh38)
      X:110469267 (GRCh37)
      Canonical SPDI:
      NC_000023.11:111226038:GG:G
      Gene:
      PAK3 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GG=0./0 (ALFA)
      -=0.000011/3 (TOPMED)
      -=0.00002/2 (GnomAD)
      HGVS:
      NC_000023.11:g.111226040del, NC_000023.10:g.110469268del, NG_008288.2:g.286756del, NM_002578.5:c.*5593del, NM_002578.4:c.*5593del, NM_001128168.3:c.*5593del, NM_001128168.2:c.*5593del, NM_001128173.3:c.*5593del, NM_001128173.2:c.*5593del, NM_001128166.3:c.*5593del, NM_001128166.2:c.*5593del, NM_001128167.3:c.*5593del, NM_001128167.2:c.*5593del, NM_001324329.2:c.*5593del, NM_001324329.1:c.*5593del, NR_136747.2:n.7832del, NR_136747.1:n.7881del, NM_001324332.2:c.*5593del, NM_001324332.1:c.*5593del, NM_001324333.2:c.*5593del, NM_001324333.1:c.*5593del, NM_001324334.2:c.*5593del, NM_001324334.1:c.*5593del, NM_001324327.2:c.*5593del, NM_001324327.1:c.*5593del, NM_001324331.2:c.*5593del, NM_001324331.1:c.*5593del, NM_001324325.2:c.*5593del, NM_001324325.1:c.*5593del, NM_001324330.2:c.*5593del, NM_001324330.1:c.*5593del, NM_001324328.2:c.*5593del, NM_001324328.1:c.*5593del, NM_001324326.2:c.*5593del, NM_001324326.1:c.*5593del, NM_001128172.2:c.*5593del, NR_136748.1:n.7516del, XM_017029563.2:c.*5593del, XM_017029563.1:c.*5593del, XM_017029557.2:c.*5593del, XM_017029557.1:c.*5593del, XM_047442150.1:c.*5593del, XM_047442148.1:c.*5593del, XM_047442149.1:c.*5593del

      4.

      rs1489348717 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        X:111221981 (GRCh38)
        X:110465209 (GRCh37)
        Canonical SPDI:
        NC_000023.11:111221980:A:C
        Gene:
        PAK3 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000023.11:g.111221981A>C, NC_000023.10:g.110465209A>C, NG_008288.2:g.282697A>C, NM_002578.5:c.*1534A>C, NM_002578.4:c.*1534A>C, NM_001128168.3:c.*1534A>C, NM_001128168.2:c.*1534A>C, NM_001128173.3:c.*1534A>C, NM_001128173.2:c.*1534A>C, NM_001128166.3:c.*1534A>C, NM_001128166.2:c.*1534A>C, NM_001128167.3:c.*1534A>C, NM_001128167.2:c.*1534A>C, NM_001324329.2:c.*1534A>C, NM_001324329.1:c.*1534A>C, NR_136747.2:n.3773A>C, NR_136747.1:n.3822A>C, NM_001324332.2:c.*1534A>C, NM_001324332.1:c.*1534A>C, NM_001324333.2:c.*1534A>C, NM_001324333.1:c.*1534A>C, NM_001324334.2:c.*1534A>C, NM_001324334.1:c.*1534A>C, NM_001324327.2:c.*1534A>C, NM_001324327.1:c.*1534A>C, NM_001324331.2:c.*1534A>C, NM_001324331.1:c.*1534A>C, NM_001324325.2:c.*1534A>C, NM_001324325.1:c.*1534A>C, NM_001324330.2:c.*1534A>C, NM_001324330.1:c.*1534A>C, NM_001324328.2:c.*1534A>C, NM_001324328.1:c.*1534A>C, NM_001324326.2:c.*1534A>C, NM_001324326.1:c.*1534A>C, NM_001128172.2:c.*1534A>C, NR_136748.1:n.3457A>C, XM_017029563.2:c.*1534A>C, XM_017029563.1:c.*1534A>C, XM_017029557.2:c.*1534A>C, XM_017029557.1:c.*1534A>C, XM_047442150.1:c.*1534A>C, XM_047442148.1:c.*1534A>C, XM_047442149.1:c.*1534A>C

        5.

        rs1489149300 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TT>- [Show Flanks]
          Chromosome:
          X:111221501 (GRCh38)
          X:110464729 (GRCh37)
          Canonical SPDI:
          NC_000023.11:111221500:TT:
          Gene:
          PAK3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          NC_000023.11:g.111221501_111221502del, NC_000023.10:g.110464729_110464730del, NG_008288.2:g.282217_282218del, NM_002578.5:c.*1054_*1055del, NM_002578.4:c.*1054_*1055del, NM_001128168.3:c.*1054_*1055del, NM_001128168.2:c.*1054_*1055del, NM_001128173.3:c.*1054_*1055del, NM_001128173.2:c.*1054_*1055del, NM_001128166.3:c.*1054_*1055del, NM_001128166.2:c.*1054_*1055del, NM_001128167.3:c.*1054_*1055del, NM_001128167.2:c.*1054_*1055del, NM_001324329.2:c.*1054_*1055del, NM_001324329.1:c.*1054_*1055del, NR_136747.2:n.3293_3294del, NR_136747.1:n.3342_3343del, NM_001324332.2:c.*1054_*1055del, NM_001324332.1:c.*1054_*1055del, NM_001324333.2:c.*1054_*1055del, NM_001324333.1:c.*1054_*1055del, NM_001324334.2:c.*1054_*1055del, NM_001324334.1:c.*1054_*1055del, NM_001324327.2:c.*1054_*1055del, NM_001324327.1:c.*1054_*1055del, NM_001324331.2:c.*1054_*1055del, NM_001324331.1:c.*1054_*1055del, NM_001324325.2:c.*1054_*1055del, NM_001324325.1:c.*1054_*1055del, NM_001324330.2:c.*1054_*1055del, NM_001324330.1:c.*1054_*1055del, NM_001324328.2:c.*1054_*1055del, NM_001324328.1:c.*1054_*1055del, NM_001324326.2:c.*1054_*1055del, NM_001324326.1:c.*1054_*1055del, NM_001128172.2:c.*1054_*1055del, NR_136748.1:n.2977_2978del, XM_017029563.2:c.*1054_*1055del, XM_017029563.1:c.*1054_*1055del, XM_017029557.2:c.*1054_*1055del, XM_017029557.1:c.*1054_*1055del, XM_047442150.1:c.*1054_*1055del, XM_047442148.1:c.*1054_*1055del, XM_047442149.1:c.*1054_*1055del

          6.

          rs1487101226 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            X:111225060 (GRCh38)
            X:110468288 (GRCh37)
            Canonical SPDI:
            NC_000023.11:111225059:G:T
            Gene:
            PAK3 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000023.11:g.111225060G>T, NC_000023.10:g.110468288G>T, NG_008288.2:g.285776G>T, NM_002578.5:c.*4613G>T, NM_002578.4:c.*4613G>T, NM_001128168.3:c.*4613G>T, NM_001128168.2:c.*4613G>T, NM_001128173.3:c.*4613G>T, NM_001128173.2:c.*4613G>T, NM_001128166.3:c.*4613G>T, NM_001128166.2:c.*4613G>T, NM_001128167.3:c.*4613G>T, NM_001128167.2:c.*4613G>T, NM_001324329.2:c.*4613G>T, NM_001324329.1:c.*4613G>T, NR_136747.2:n.6852G>T, NR_136747.1:n.6901G>T, NM_001324332.2:c.*4613G>T, NM_001324332.1:c.*4613G>T, NM_001324333.2:c.*4613G>T, NM_001324333.1:c.*4613G>T, NM_001324334.2:c.*4613G>T, NM_001324334.1:c.*4613G>T, NM_001324327.2:c.*4613G>T, NM_001324327.1:c.*4613G>T, NM_001324331.2:c.*4613G>T, NM_001324331.1:c.*4613G>T, NM_001324325.2:c.*4613G>T, NM_001324325.1:c.*4613G>T, NM_001324330.2:c.*4613G>T, NM_001324330.1:c.*4613G>T, NM_001324328.2:c.*4613G>T, NM_001324328.1:c.*4613G>T, NM_001324326.2:c.*4613G>T, NM_001324326.1:c.*4613G>T, NM_001128172.2:c.*4613G>T, NR_136748.1:n.6536G>T, XM_017029563.2:c.*4613G>T, XM_017029563.1:c.*4613G>T, XM_017029557.2:c.*4613G>T, XM_017029557.1:c.*4613G>T, XM_047442150.1:c.*4613G>T, XM_047442148.1:c.*4613G>T, XM_047442149.1:c.*4613G>T

            7.

            rs1486647258 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:111223393 (GRCh38)
              X:110466621 (GRCh37)
              Canonical SPDI:
              NC_000023.11:111223392:C:T
              Gene:
              PAK3 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
              HGVS:
              NC_000023.11:g.111223393C>T, NC_000023.10:g.110466621C>T, NG_008288.2:g.284109C>T, NM_002578.5:c.*2946C>T, NM_002578.4:c.*2946C>T, NM_001128168.3:c.*2946C>T, NM_001128168.2:c.*2946C>T, NM_001128173.3:c.*2946C>T, NM_001128173.2:c.*2946C>T, NM_001128166.3:c.*2946C>T, NM_001128166.2:c.*2946C>T, NM_001128167.3:c.*2946C>T, NM_001128167.2:c.*2946C>T, NM_001324329.2:c.*2946C>T, NM_001324329.1:c.*2946C>T, NR_136747.2:n.5185C>T, NR_136747.1:n.5234C>T, NM_001324332.2:c.*2946C>T, NM_001324332.1:c.*2946C>T, NM_001324333.2:c.*2946C>T, NM_001324333.1:c.*2946C>T, NM_001324334.2:c.*2946C>T, NM_001324334.1:c.*2946C>T, NM_001324327.2:c.*2946C>T, NM_001324327.1:c.*2946C>T, NM_001324331.2:c.*2946C>T, NM_001324331.1:c.*2946C>T, NM_001324325.2:c.*2946C>T, NM_001324325.1:c.*2946C>T, NM_001324330.2:c.*2946C>T, NM_001324330.1:c.*2946C>T, NM_001324328.2:c.*2946C>T, NM_001324328.1:c.*2946C>T, NM_001324326.2:c.*2946C>T, NM_001324326.1:c.*2946C>T, NM_001128172.2:c.*2946C>T, NR_136748.1:n.4869C>T, XM_017029563.2:c.*2946C>T, XM_017029563.1:c.*2946C>T, XM_017029557.2:c.*2946C>T, XM_017029557.1:c.*2946C>T, XM_047442150.1:c.*2946C>T, XM_047442148.1:c.*2946C>T, XM_047442149.1:c.*2946C>T

              8.

              rs1485277423 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:111221770 (GRCh38)
                X:110464998 (GRCh37)
                Canonical SPDI:
                NC_000023.11:111221769:G:A
                Gene:
                PAK3 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000015/4 (TOPMED)
                A=0.000029/3 (GnomAD)
                HGVS:
                NC_000023.11:g.111221770G>A, NC_000023.10:g.110464998G>A, NG_008288.2:g.282486G>A, NM_002578.5:c.*1323G>A, NM_002578.4:c.*1323G>A, NM_001128168.3:c.*1323G>A, NM_001128168.2:c.*1323G>A, NM_001128173.3:c.*1323G>A, NM_001128173.2:c.*1323G>A, NM_001128166.3:c.*1323G>A, NM_001128166.2:c.*1323G>A, NM_001128167.3:c.*1323G>A, NM_001128167.2:c.*1323G>A, NM_001324329.2:c.*1323G>A, NM_001324329.1:c.*1323G>A, NR_136747.2:n.3562G>A, NR_136747.1:n.3611G>A, NM_001324332.2:c.*1323G>A, NM_001324332.1:c.*1323G>A, NM_001324333.2:c.*1323G>A, NM_001324333.1:c.*1323G>A, NM_001324334.2:c.*1323G>A, NM_001324334.1:c.*1323G>A, NM_001324327.2:c.*1323G>A, NM_001324327.1:c.*1323G>A, NM_001324331.2:c.*1323G>A, NM_001324331.1:c.*1323G>A, NM_001324325.2:c.*1323G>A, NM_001324325.1:c.*1323G>A, NM_001324330.2:c.*1323G>A, NM_001324330.1:c.*1323G>A, NM_001324328.2:c.*1323G>A, NM_001324328.1:c.*1323G>A, NM_001324326.2:c.*1323G>A, NM_001324326.1:c.*1323G>A, NM_001128172.2:c.*1323G>A, NR_136748.1:n.3246G>A, XM_017029563.2:c.*1323G>A, XM_017029563.1:c.*1323G>A, XM_017029557.2:c.*1323G>A, XM_017029557.1:c.*1323G>A, XM_047442150.1:c.*1323G>A, XM_047442148.1:c.*1323G>A, XM_047442149.1:c.*1323G>A

                9.

                rs1484661255 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:111225622 (GRCh38)
                  X:110468850 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:111225621:G:A
                  Gene:
                  PAK3 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000019/5 (TOPMED)
                  A=0.000045/1 (TOMMO)
                  HGVS:
                  NC_000023.11:g.111225622G>A, NC_000023.10:g.110468850G>A, NG_008288.2:g.286338G>A, NM_002578.5:c.*5175G>A, NM_002578.4:c.*5175G>A, NM_001128168.3:c.*5175G>A, NM_001128168.2:c.*5175G>A, NM_001128173.3:c.*5175G>A, NM_001128173.2:c.*5175G>A, NM_001128166.3:c.*5175G>A, NM_001128166.2:c.*5175G>A, NM_001128167.3:c.*5175G>A, NM_001128167.2:c.*5175G>A, NM_001324329.2:c.*5175G>A, NM_001324329.1:c.*5175G>A, NR_136747.2:n.7414G>A, NR_136747.1:n.7463G>A, NM_001324332.2:c.*5175G>A, NM_001324332.1:c.*5175G>A, NM_001324333.2:c.*5175G>A, NM_001324333.1:c.*5175G>A, NM_001324334.2:c.*5175G>A, NM_001324334.1:c.*5175G>A, NM_001324327.2:c.*5175G>A, NM_001324327.1:c.*5175G>A, NM_001324331.2:c.*5175G>A, NM_001324331.1:c.*5175G>A, NM_001324325.2:c.*5175G>A, NM_001324325.1:c.*5175G>A, NM_001324330.2:c.*5175G>A, NM_001324330.1:c.*5175G>A, NM_001324328.2:c.*5175G>A, NM_001324328.1:c.*5175G>A, NM_001324326.2:c.*5175G>A, NM_001324326.1:c.*5175G>A, NM_001128172.2:c.*5175G>A, NR_136748.1:n.7098G>A, XM_017029563.2:c.*5175G>A, XM_017029563.1:c.*5175G>A, XM_017029557.2:c.*5175G>A, XM_017029557.1:c.*5175G>A, XM_047442150.1:c.*5175G>A, XM_047442148.1:c.*5175G>A, XM_047442149.1:c.*5175G>A

                  10.

                  rs1483876548 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    X:111224825 (GRCh38)
                    X:110468053 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:111224824:A:C
                    Gene:
                    PAK3 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000023.11:g.111224825A>C, NC_000023.10:g.110468053A>C, NG_008288.2:g.285541A>C, NM_002578.5:c.*4378A>C, NM_002578.4:c.*4378A>C, NM_001128168.3:c.*4378A>C, NM_001128168.2:c.*4378A>C, NM_001128173.3:c.*4378A>C, NM_001128173.2:c.*4378A>C, NM_001128166.3:c.*4378A>C, NM_001128166.2:c.*4378A>C, NM_001128167.3:c.*4378A>C, NM_001128167.2:c.*4378A>C, NM_001324329.2:c.*4378A>C, NM_001324329.1:c.*4378A>C, NR_136747.2:n.6617A>C, NR_136747.1:n.6666A>C, NM_001324332.2:c.*4378A>C, NM_001324332.1:c.*4378A>C, NM_001324333.2:c.*4378A>C, NM_001324333.1:c.*4378A>C, NM_001324334.2:c.*4378A>C, NM_001324334.1:c.*4378A>C, NM_001324327.2:c.*4378A>C, NM_001324327.1:c.*4378A>C, NM_001324331.2:c.*4378A>C, NM_001324331.1:c.*4378A>C, NM_001324325.2:c.*4378A>C, NM_001324325.1:c.*4378A>C, NM_001324330.2:c.*4378A>C, NM_001324330.1:c.*4378A>C, NM_001324328.2:c.*4378A>C, NM_001324328.1:c.*4378A>C, NM_001324326.2:c.*4378A>C, NM_001324326.1:c.*4378A>C, NM_001128172.2:c.*4378A>C, NR_136748.1:n.6301A>C, XM_017029563.2:c.*4378A>C, XM_017029563.1:c.*4378A>C, XM_017029557.2:c.*4378A>C, XM_017029557.1:c.*4378A>C, XM_047442150.1:c.*4378A>C, XM_047442148.1:c.*4378A>C, XM_047442149.1:c.*4378A>C

                    11.

                    rs1483826091 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      X:111226308 (GRCh38)
                      X:110469536 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:111226307:CCC:CC
                      Gene:
                      PAK3 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CC=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000023.11:g.111226310del, NC_000023.10:g.110469538del, NG_008288.2:g.287026del, NM_002578.5:c.*5863del, NM_002578.4:c.*5863del, NM_001128168.3:c.*5863del, NM_001128168.2:c.*5863del, NM_001128173.3:c.*5863del, NM_001128173.2:c.*5863del, NM_001128166.3:c.*5863del, NM_001128166.2:c.*5863del, NM_001128167.3:c.*5863del, NM_001128167.2:c.*5863del, NM_001324329.2:c.*5863del, NM_001324329.1:c.*5863del, NR_136747.2:n.8102del, NR_136747.1:n.8151del, NM_001324332.2:c.*5863del, NM_001324332.1:c.*5863del, NM_001324333.2:c.*5863del, NM_001324333.1:c.*5863del, NM_001324334.2:c.*5863del, NM_001324334.1:c.*5863del, NM_001324327.2:c.*5863del, NM_001324327.1:c.*5863del, NM_001324331.2:c.*5863del, NM_001324331.1:c.*5863del, NM_001324325.2:c.*5863del, NM_001324325.1:c.*5863del, NM_001324330.2:c.*5863del, NM_001324330.1:c.*5863del, NM_001324328.2:c.*5863del, NM_001324328.1:c.*5863del, NM_001324326.2:c.*5863del, NM_001324326.1:c.*5863del, NM_001128172.2:c.*5863del, NR_136748.1:n.7786del, XM_017029563.2:c.*5863del, XM_017029563.1:c.*5863del, XM_017029557.2:c.*5863del, XM_017029557.1:c.*5863del, XM_047442150.1:c.*5863del, XM_047442148.1:c.*5863del, XM_047442149.1:c.*5863del

                      12.

                      rs1483426891 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->TTGTT [Show Flanks]
                        Chromosome:
                        X:111220803 (GRCh38)
                        X:110464032 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:111220803::TTGTT
                        Gene:
                        PAK3 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTGTT=0./0 (ALFA)
                        TTGTT=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000023.11:g.111220803_111220804insTTGTT, NC_000023.10:g.110464031_110464032insTTGTT, NG_008288.2:g.281519_281520insTTGTT, NM_002578.5:c.*356_*357insTTGTT, NM_002578.4:c.*356_*357insTTGTT, NM_002578.3:c.*356_*357insTTGTT, NM_001128168.3:c.*356_*357insTTGTT, NM_001128168.2:c.*356_*357insTTGTT, NM_001128168.1:c.*356_*357insTTGTT, NM_001128173.3:c.*356_*357insTTGTT, NM_001128173.2:c.*356_*357insTTGTT, NM_001128173.1:c.*356_*357insTTGTT, NM_001128166.3:c.*356_*357insTTGTT, NM_001128166.2:c.*356_*357insTTGTT, NM_001128166.1:c.*356_*357insTTGTT, NM_001128167.3:c.*356_*357insTTGTT, NM_001128167.2:c.*356_*357insTTGTT, NM_001128167.1:c.*356_*357insTTGTT, NM_001324329.2:c.*356_*357insTTGTT, NM_001324329.1:c.*356_*357insTTGTT, NR_136747.2:n.2595_2596insTTGTT, NR_136747.1:n.2644_2645insTTGTT, NM_001324332.2:c.*356_*357insTTGTT, NM_001324332.1:c.*356_*357insTTGTT, NM_001324333.2:c.*356_*357insTTGTT, NM_001324333.1:c.*356_*357insTTGTT, NM_001324334.2:c.*356_*357insTTGTT, NM_001324334.1:c.*356_*357insTTGTT, NM_001324327.2:c.*356_*357insTTGTT, NM_001324327.1:c.*356_*357insTTGTT, NM_001324331.2:c.*356_*357insTTGTT, NM_001324331.1:c.*356_*357insTTGTT, NM_001324325.2:c.*356_*357insTTGTT, NM_001324325.1:c.*356_*357insTTGTT, NM_001324330.2:c.*356_*357insTTGTT, NM_001324330.1:c.*356_*357insTTGTT, NM_001324328.2:c.*356_*357insTTGTT, NM_001324328.1:c.*356_*357insTTGTT, NM_001324326.2:c.*356_*357insTTGTT, NM_001324326.1:c.*356_*357insTTGTT, NM_001128172.2:c.*356_*357insTTGTT, NM_001128172.1:c.*356_*357insTTGTT, NR_136748.1:n.2279_2280insTTGTT, XM_017029563.2:c.*356_*357insTTGTT, XM_017029563.1:c.*356_*357insTTGTT, XM_017029557.2:c.*356_*357insTTGTT, XM_017029557.1:c.*356_*357insTTGTT, XM_047442150.1:c.*356_*357insTTGTT, XM_047442148.1:c.*356_*357insTTGTT, XM_047442149.1:c.*356_*357insTTGTT

                        13.

                        rs1482776910 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:111221657 (GRCh38)
                          X:110464885 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:111221656:T:C
                          Gene:
                          PAK3 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000023.11:g.111221657T>C, NC_000023.10:g.110464885T>C, NG_008288.2:g.282373T>C, NM_002578.5:c.*1210T>C, NM_002578.4:c.*1210T>C, NM_001128168.3:c.*1210T>C, NM_001128168.2:c.*1210T>C, NM_001128173.3:c.*1210T>C, NM_001128173.2:c.*1210T>C, NM_001128166.3:c.*1210T>C, NM_001128166.2:c.*1210T>C, NM_001128167.3:c.*1210T>C, NM_001128167.2:c.*1210T>C, NM_001324329.2:c.*1210T>C, NM_001324329.1:c.*1210T>C, NR_136747.2:n.3449T>C, NR_136747.1:n.3498T>C, NM_001324332.2:c.*1210T>C, NM_001324332.1:c.*1210T>C, NM_001324333.2:c.*1210T>C, NM_001324333.1:c.*1210T>C, NM_001324334.2:c.*1210T>C, NM_001324334.1:c.*1210T>C, NM_001324327.2:c.*1210T>C, NM_001324327.1:c.*1210T>C, NM_001324331.2:c.*1210T>C, NM_001324331.1:c.*1210T>C, NM_001324325.2:c.*1210T>C, NM_001324325.1:c.*1210T>C, NM_001324330.2:c.*1210T>C, NM_001324330.1:c.*1210T>C, NM_001324328.2:c.*1210T>C, NM_001324328.1:c.*1210T>C, NM_001324326.2:c.*1210T>C, NM_001324326.1:c.*1210T>C, NM_001128172.2:c.*1210T>C, NR_136748.1:n.3133T>C, XM_017029563.2:c.*1210T>C, XM_017029563.1:c.*1210T>C, XM_017029557.2:c.*1210T>C, XM_017029557.1:c.*1210T>C, XM_047442150.1:c.*1210T>C, XM_047442148.1:c.*1210T>C, XM_047442149.1:c.*1210T>C

                          14.

                          rs1482272259 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:111220420 (GRCh38)
                            X:110463648 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:111220419:G:A
                            Gene:
                            PAK3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000111/1 (ALFA)
                            A=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.111220420G>A, NC_000023.10:g.110463648G>A, NG_008288.2:g.281136G>A, NM_002578.5:c.1608G>A, NM_002578.4:c.1608G>A, NM_002578.3:c.1608G>A, NM_001128168.3:c.1716G>A, NM_001128168.2:c.1716G>A, NM_001128168.1:c.1716G>A, NM_001128173.3:c.1653G>A, NM_001128173.2:c.1653G>A, NM_001128173.1:c.1653G>A, NM_001128166.3:c.1608G>A, NM_001128166.2:c.1608G>A, NM_001128166.1:c.1608G>A, NM_001128167.3:c.1608G>A, NM_001128167.2:c.1608G>A, NM_001128167.1:c.1608G>A, NM_001324329.2:c.1653G>A, NM_001324329.1:c.1653G>A, NR_136747.2:n.2212G>A, NR_136747.1:n.2261G>A, NM_001324332.2:c.1608G>A, NM_001324332.1:c.1608G>A, NM_001324333.2:c.1653G>A, NM_001324333.1:c.1653G>A, NM_001324334.2:c.1608G>A, NM_001324334.1:c.1608G>A, NM_001324327.2:c.1653G>A, NM_001324327.1:c.1653G>A, NM_001324331.2:c.1608G>A, NM_001324331.1:c.1608G>A, NM_001324325.2:c.1608G>A, NM_001324325.1:c.1608G>A, NM_001324330.2:c.1608G>A, NM_001324330.1:c.1608G>A, NM_001324328.2:c.1653G>A, NM_001324328.1:c.1653G>A, NM_001324326.2:c.1608G>A, NM_001324326.1:c.1608G>A, NM_001128172.2:c.1671G>A, NM_001128172.1:c.1671G>A, NR_136748.1:n.1896G>A, XM_017029563.2:c.1716G>A, XM_017029563.1:c.1716G>A, XM_017029557.2:c.1653G>A, XM_017029557.1:c.1653G>A, XM_047442150.1:c.1569G>A, XM_047442148.1:c.1608G>A, XM_047442149.1:c.1608G>A

                            15.

                            rs1482114105 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              X:111226043 (GRCh38)
                              X:110469271 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:111226042:G:T
                              Gene:
                              PAK3 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000019/5 (TOPMED)
                              HGVS:
                              NC_000023.11:g.111226043G>T, NC_000023.10:g.110469271G>T, NG_008288.2:g.286759G>T, NM_002578.5:c.*5596G>T, NM_002578.4:c.*5596G>T, NM_001128168.3:c.*5596G>T, NM_001128168.2:c.*5596G>T, NM_001128173.3:c.*5596G>T, NM_001128173.2:c.*5596G>T, NM_001128166.3:c.*5596G>T, NM_001128166.2:c.*5596G>T, NM_001128167.3:c.*5596G>T, NM_001128167.2:c.*5596G>T, NM_001324329.2:c.*5596G>T, NM_001324329.1:c.*5596G>T, NR_136747.2:n.7835G>T, NR_136747.1:n.7884G>T, NM_001324332.2:c.*5596G>T, NM_001324332.1:c.*5596G>T, NM_001324333.2:c.*5596G>T, NM_001324333.1:c.*5596G>T, NM_001324334.2:c.*5596G>T, NM_001324334.1:c.*5596G>T, NM_001324327.2:c.*5596G>T, NM_001324327.1:c.*5596G>T, NM_001324331.2:c.*5596G>T, NM_001324331.1:c.*5596G>T, NM_001324325.2:c.*5596G>T, NM_001324325.1:c.*5596G>T, NM_001324330.2:c.*5596G>T, NM_001324330.1:c.*5596G>T, NM_001324328.2:c.*5596G>T, NM_001324328.1:c.*5596G>T, NM_001324326.2:c.*5596G>T, NM_001324326.1:c.*5596G>T, NM_001128172.2:c.*5596G>T, NR_136748.1:n.7519G>T, XM_017029563.2:c.*5596G>T, XM_017029563.1:c.*5596G>T, XM_017029557.2:c.*5596G>T, XM_017029557.1:c.*5596G>T, XM_047442150.1:c.*5596G>T, XM_047442148.1:c.*5596G>T, XM_047442149.1:c.*5596G>T

                              16.

                              rs1481398266 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                X:111142102 (GRCh38)
                                X:110385330 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:111142101:A:C
                                Gene:
                                PAK3 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.00001/1 (GnomAD)
                                HGVS:
                                NC_000023.11:g.111142102A>C, NC_000023.10:g.110385330A>C, NG_008288.2:g.202818A>C, NM_002578.5:c.182A>C, NM_002578.4:c.182A>C, NM_002578.3:c.182A>C, NM_001128168.3:c.182A>C, NM_001128168.2:c.182A>C, NM_001128168.1:c.182A>C, NM_001128173.3:c.182A>C, NM_001128173.2:c.182A>C, NM_001128173.1:c.182A>C, NM_001128166.3:c.182A>C, NM_001128166.2:c.182A>C, NM_001128166.1:c.182A>C, NM_001128167.3:c.182A>C, NM_001128167.2:c.182A>C, NM_001128167.1:c.182A>C, NM_001324329.2:c.182A>C, NM_001324329.1:c.182A>C, NR_136747.2:n.611A>C, NR_136747.1:n.660A>C, NM_001324332.2:c.182A>C, NM_001324332.1:c.182A>C, NM_001324333.2:c.182A>C, NM_001324333.1:c.182A>C, NM_001324334.2:c.182A>C, NM_001324334.1:c.182A>C, NM_001324327.2:c.182A>C, NM_001324327.1:c.182A>C, NM_001324331.2:c.182A>C, NM_001324331.1:c.182A>C, NM_001324325.2:c.182A>C, NM_001324325.1:c.182A>C, NM_001324330.2:c.182A>C, NM_001324330.1:c.182A>C, NM_001324328.2:c.182A>C, NM_001324328.1:c.182A>C, NM_001324326.2:c.182A>C, NM_001324326.1:c.182A>C, NM_001128172.2:c.182A>C, NM_001128172.1:c.182A>C, NR_136748.1:n.357A>C, XM_005262133.4:c.182A>C, XM_005262133.3:c.182A>C, XM_005262133.2:c.182A>C, XM_005262133.1:c.182A>C, XM_011530971.3:c.182A>C, XM_011530971.2:c.182A>C, XM_011530971.1:c.182A>C, XM_011530968.3:c.182A>C, XM_011530968.2:c.182A>C, XM_011530968.1:c.182A>C, XM_005262132.3:c.182A>C, XM_005262132.2:c.182A>C, XM_005262132.1:c.182A>C, XM_006724654.3:c.182A>C, XM_006724654.2:c.182A>C, XM_006724654.1:c.182A>C, XM_006724655.3:c.182A>C, XM_006724655.2:c.182A>C, XM_006724655.1:c.182A>C, XM_017029563.2:c.182A>C, XM_017029563.1:c.182A>C, XM_017029557.2:c.182A>C, XM_017029557.1:c.182A>C, XM_011530962.2:c.182A>C, XM_011530962.1:c.182A>C, XM_011530969.2:c.182A>C, XM_011530969.1:c.182A>C, XM_017029558.2:c.182A>C, XM_017029558.1:c.182A>C, XM_017029559.2:c.182A>C, XM_017029559.1:c.182A>C, XM_017029560.2:c.182A>C, XM_017029560.1:c.182A>C, XM_047442148.1:c.182A>C, XM_047442149.1:c.182A>C, XM_047442147.1:c.182A>C, XM_047442146.1:c.182A>C, NP_002569.1:p.Lys61Thr, NP_001121640.1:p.Lys61Thr, NP_001121645.1:p.Lys61Thr, NP_001121638.1:p.Lys61Thr, NP_001121639.1:p.Lys61Thr, NP_001311258.1:p.Lys61Thr, NP_001311261.1:p.Lys61Thr, NP_001311262.1:p.Lys61Thr, NP_001311263.1:p.Lys61Thr, NP_001311256.1:p.Lys61Thr, NP_001311260.1:p.Lys61Thr, NP_001311254.1:p.Lys61Thr, NP_001311259.1:p.Lys61Thr, NP_001311257.1:p.Lys61Thr, NP_001311255.1:p.Lys61Thr, NP_001121644.1:p.Lys61Thr, XP_005262190.1:p.Lys61Thr, XP_011529273.1:p.Lys61Thr, XP_011529270.1:p.Lys61Thr, XP_005262189.1:p.Lys61Thr, XP_006724717.1:p.Lys61Thr, XP_006724718.1:p.Lys61Thr, XP_016885052.1:p.Lys61Thr, XP_016885046.1:p.Lys61Thr, XP_011529264.1:p.Lys61Thr, XP_011529271.1:p.Lys61Thr, XP_016885047.1:p.Lys61Thr, XP_016885048.1:p.Lys61Thr, XP_016885049.1:p.Lys61Thr, XP_047298104.1:p.Lys61Thr, XP_047298105.1:p.Lys61Thr, XP_047298103.1:p.Lys61Thr, XP_047298102.1:p.Lys61Thr

                                17.

                                rs1479620145 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:111222218 (GRCh38)
                                  X:110465446 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:111222217:T:C
                                  Gene:
                                  PAK3 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000142/2 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.111222218T>C, NC_000023.10:g.110465446T>C, NG_008288.2:g.282934T>C, NM_002578.5:c.*1771T>C, NM_002578.4:c.*1771T>C, NM_001128168.3:c.*1771T>C, NM_001128168.2:c.*1771T>C, NM_001128173.3:c.*1771T>C, NM_001128173.2:c.*1771T>C, NM_001128166.3:c.*1771T>C, NM_001128166.2:c.*1771T>C, NM_001128167.3:c.*1771T>C, NM_001128167.2:c.*1771T>C, NM_001324329.2:c.*1771T>C, NM_001324329.1:c.*1771T>C, NR_136747.2:n.4010T>C, NR_136747.1:n.4059T>C, NM_001324332.2:c.*1771T>C, NM_001324332.1:c.*1771T>C, NM_001324333.2:c.*1771T>C, NM_001324333.1:c.*1771T>C, NM_001324334.2:c.*1771T>C, NM_001324334.1:c.*1771T>C, NM_001324327.2:c.*1771T>C, NM_001324327.1:c.*1771T>C, NM_001324331.2:c.*1771T>C, NM_001324331.1:c.*1771T>C, NM_001324325.2:c.*1771T>C, NM_001324325.1:c.*1771T>C, NM_001324330.2:c.*1771T>C, NM_001324330.1:c.*1771T>C, NM_001324328.2:c.*1771T>C, NM_001324328.1:c.*1771T>C, NM_001324326.2:c.*1771T>C, NM_001324326.1:c.*1771T>C, NM_001128172.2:c.*1771T>C, NR_136748.1:n.3694T>C, XM_017029563.2:c.*1771T>C, XM_017029563.1:c.*1771T>C, XM_017029557.2:c.*1771T>C, XM_017029557.1:c.*1771T>C, XM_047442150.1:c.*1771T>C, XM_047442148.1:c.*1771T>C, XM_047442149.1:c.*1771T>C

                                  18.

                                  rs1478864661 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:111123194 (GRCh38)
                                    X:110366422 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:111123193:A:G
                                    Gene:
                                    PAK3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000023.11:g.111123194A>G, NC_000023.10:g.110366422A>G, NG_008288.2:g.183910A>G, NM_002578.5:c.91A>G, NM_002578.4:c.91A>G, NM_002578.3:c.91A>G, NM_001128168.3:c.91A>G, NM_001128168.2:c.91A>G, NM_001128168.1:c.91A>G, NM_001128173.3:c.91A>G, NM_001128173.2:c.91A>G, NM_001128173.1:c.91A>G, NM_001128166.3:c.91A>G, NM_001128166.2:c.91A>G, NM_001128166.1:c.91A>G, NM_001128167.3:c.91A>G, NM_001128167.2:c.91A>G, NM_001128167.1:c.91A>G, NM_001324329.2:c.91A>G, NM_001324329.1:c.91A>G, NR_136747.2:n.520A>G, NR_136747.1:n.569A>G, NM_001324332.2:c.91A>G, NM_001324332.1:c.91A>G, NM_001324333.2:c.91A>G, NM_001324333.1:c.91A>G, NM_001324334.2:c.91A>G, NM_001324334.1:c.91A>G, NM_001324327.2:c.91A>G, NM_001324327.1:c.91A>G, NM_001324331.2:c.91A>G, NM_001324331.1:c.91A>G, NM_001324325.2:c.91A>G, NM_001324325.1:c.91A>G, NM_001324330.2:c.91A>G, NM_001324330.1:c.91A>G, NM_001324328.2:c.91A>G, NM_001324328.1:c.91A>G, NM_001324326.2:c.91A>G, NM_001324326.1:c.91A>G, NM_001128172.2:c.91A>G, NM_001128172.1:c.91A>G, NR_136746.2:n.863A>G, NR_136746.1:n.912A>G, NR_136744.2:n.671A>G, NR_136744.1:n.720A>G, NR_136742.2:n.668A>G, NR_136742.1:n.717A>G, NR_136743.2:n.604A>G, NR_136743.1:n.653A>G, NR_136741.2:n.520A>G, NR_136741.1:n.569A>G, NR_136740.2:n.453A>G, NR_136740.1:n.502A>G, NR_136745.2:n.671A>G, NR_136745.1:n.720A>G, NR_136748.1:n.266A>G, XM_005262133.4:c.91A>G, XM_005262133.3:c.91A>G, XM_005262133.2:c.91A>G, XM_005262133.1:c.91A>G, XM_011530971.3:c.91A>G, XM_011530971.2:c.91A>G, XM_011530971.1:c.91A>G, XM_011530968.3:c.91A>G, XM_011530968.2:c.91A>G, XM_011530968.1:c.91A>G, XM_005262132.3:c.91A>G, XM_005262132.2:c.91A>G, XM_005262132.1:c.91A>G, XM_006724654.3:c.91A>G, XM_006724654.2:c.91A>G, XM_006724654.1:c.91A>G, XM_006724655.3:c.91A>G, XM_006724655.2:c.91A>G, XM_006724655.1:c.91A>G, XM_017029563.2:c.91A>G, XM_017029563.1:c.91A>G, XM_017029557.2:c.91A>G, XM_017029557.1:c.91A>G, XM_011530962.2:c.91A>G, XM_011530962.1:c.91A>G, XM_011530969.2:c.91A>G, XM_011530969.1:c.91A>G, XM_017029558.2:c.91A>G, XM_017029558.1:c.91A>G, XM_017029559.2:c.91A>G, XM_017029559.1:c.91A>G, XM_017029560.2:c.91A>G, XM_017029560.1:c.91A>G, XM_047442148.1:c.91A>G, XM_047442149.1:c.91A>G, XM_047442147.1:c.91A>G, XM_047442146.1:c.91A>G, NP_002569.1:p.Ser31Gly, NP_001121640.1:p.Ser31Gly, NP_001121645.1:p.Ser31Gly, NP_001121638.1:p.Ser31Gly, NP_001121639.1:p.Ser31Gly, NP_001311258.1:p.Ser31Gly, NP_001311261.1:p.Ser31Gly, NP_001311262.1:p.Ser31Gly, NP_001311263.1:p.Ser31Gly, NP_001311256.1:p.Ser31Gly, NP_001311260.1:p.Ser31Gly, NP_001311254.1:p.Ser31Gly, NP_001311259.1:p.Ser31Gly, NP_001311257.1:p.Ser31Gly, NP_001311255.1:p.Ser31Gly, NP_001121644.1:p.Ser31Gly, XP_005262190.1:p.Ser31Gly, XP_011529273.1:p.Ser31Gly, XP_011529270.1:p.Ser31Gly, XP_005262189.1:p.Ser31Gly, XP_006724717.1:p.Ser31Gly, XP_006724718.1:p.Ser31Gly, XP_016885052.1:p.Ser31Gly, XP_016885046.1:p.Ser31Gly, XP_011529264.1:p.Ser31Gly, XP_011529271.1:p.Ser31Gly, XP_016885047.1:p.Ser31Gly, XP_016885048.1:p.Ser31Gly, XP_016885049.1:p.Ser31Gly, XP_047298104.1:p.Ser31Gly, XP_047298105.1:p.Ser31Gly, XP_047298103.1:p.Ser31Gly, XP_047298102.1:p.Ser31Gly

                                    19.

                                    Error occurred: cannot get document summary

                                    20.

                                    rs1476756570 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:111195886 (GRCh38)
                                      X:110439114 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:111195885:T:C
                                      Gene:
                                      PAK3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.111195886T>C, NC_000023.10:g.110439114T>C, NG_008288.2:g.256602T>C, NM_002578.5:c.1155T>C, NM_002578.4:c.1155T>C, NM_002578.3:c.1155T>C, NM_001128168.3:c.1263T>C, NM_001128168.2:c.1263T>C, NM_001128168.1:c.1263T>C, NM_001128173.3:c.1200T>C, NM_001128173.2:c.1200T>C, NM_001128173.1:c.1200T>C, NM_001128166.3:c.1155T>C, NM_001128166.2:c.1155T>C, NM_001128166.1:c.1155T>C, NM_001128167.3:c.1155T>C, NM_001128167.2:c.1155T>C, NM_001128167.1:c.1155T>C, NM_001324329.2:c.1200T>C, NM_001324329.1:c.1200T>C, NR_136747.2:n.1584T>C, NR_136747.1:n.1633T>C, NM_001324332.2:c.1155T>C, NM_001324332.1:c.1155T>C, NM_001324333.2:c.1200T>C, NM_001324333.1:c.1200T>C, NM_001324334.2:c.1155T>C, NM_001324334.1:c.1155T>C, NM_001324327.2:c.1200T>C, NM_001324327.1:c.1200T>C, NM_001324331.2:c.1155T>C, NM_001324331.1:c.1155T>C, NM_001324325.2:c.1155T>C, NM_001324325.1:c.1155T>C, NM_001324330.2:c.1155T>C, NM_001324330.1:c.1155T>C, NM_001324328.2:c.1200T>C, NM_001324328.1:c.1200T>C, NM_001324326.2:c.1155T>C, NM_001324326.1:c.1155T>C, NM_001128172.2:c.1218T>C, NM_001128172.1:c.1218T>C, NR_136748.1:n.1330T>C, XM_005262133.4:c.1155T>C, XM_005262133.3:c.1155T>C, XM_005262133.2:c.1155T>C, XM_005262133.1:c.1155T>C, XM_011530968.3:c.1200T>C, XM_011530968.2:c.1200T>C, XM_011530968.1:c.1200T>C, XM_005262132.3:c.1200T>C, XM_005262132.2:c.1200T>C, XM_005262132.1:c.1200T>C, XM_006724654.3:c.1200T>C, XM_006724654.2:c.1200T>C, XM_006724654.1:c.1200T>C, XM_006724655.3:c.1200T>C, XM_006724655.2:c.1200T>C, XM_006724655.1:c.1200T>C, XM_017029563.2:c.1263T>C, XM_017029563.1:c.1263T>C, XM_017029557.2:c.1200T>C, XM_017029557.1:c.1200T>C, XM_011530962.2:c.1200T>C, XM_011530962.1:c.1200T>C, XM_011530969.2:c.1200T>C, XM_011530969.1:c.1200T>C, XM_017029558.2:c.1155T>C, XM_017029558.1:c.1155T>C, XM_017029559.2:c.1155T>C, XM_017029559.1:c.1155T>C, XM_017029560.2:c.1155T>C, XM_017029560.1:c.1155T>C, XM_047442150.1:c.1116T>C, XM_047442148.1:c.1155T>C, XM_047442149.1:c.1155T>C, XM_047442147.1:c.1155T>C, XM_047442146.1:c.1155T>C

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