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Items: 1 to 20 of 753

1.

rs1487990706 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    13:37009771 (GRCh38)
    13:37583908 (GRCh37)
    Canonical SPDI:
    NC_000013.11:37009770:T:C
    Gene:
    EXOSC8 (Varview), SUPT20H (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000013.11:g.37009771T>C, NC_000013.10:g.37583908T>C, NG_042275.1:g.14231T>C, XM_005266449.5:c.2481A>G, XM_005266449.4:c.2481A>G, XM_005266449.3:c.2481A>G, XM_005266449.2:c.2481A>G, XM_005266449.1:c.2481A>G, XM_005266456.5:c.2445A>G, XM_005266456.4:c.2445A>G, XM_005266456.3:c.2445A>G, XM_005266456.2:c.2445A>G, XM_005266456.1:c.2445A>G, XM_005266458.5:c.2442A>G, XM_005266458.4:c.2442A>G, XM_005266458.3:c.2442A>G, XM_005266458.2:c.2442A>G, XM_005266458.1:c.2442A>G, XM_005266451.5:c.2478A>G, XM_005266451.4:c.2478A>G, XM_005266451.3:c.2478A>G, XM_005266451.2:c.2478A>G, XM_005266451.1:c.2478A>G, XM_005266454.5:c.2445A>G, XM_005266454.4:c.2445A>G, XM_005266454.3:c.2445A>G, XM_005266454.2:c.2445A>G, XM_005266454.1:c.2445A>G, XM_005266457.5:c.2442A>G, XM_005266457.4:c.2442A>G, XM_005266457.3:c.2442A>G, XM_005266457.2:c.2442A>G, XM_005266457.1:c.2442A>G, XM_005266462.5:c.2244A>G, XM_005266462.4:c.2244A>G, XM_005266462.3:c.2244A>G, XM_005266462.2:c.2244A>G, XM_005266462.1:c.2244A>G, XM_005266461.4:c.2341A>G, XM_005266461.3:c.2341A>G, XM_005266461.2:c.2341A>G, XM_005266461.1:c.2341A>G, NM_017569.4:c.2140A>G, NM_017569.3:c.2140A>G, XM_005266464.4:c.2208A>G, XM_005266464.3:c.2208A>G, XM_005266464.2:c.2208A>G, XM_005266464.1:c.2208A>G, XM_005266465.4:c.2137A>G, XM_005266465.3:c.2137A>G, XM_005266465.2:c.2137A>G, XM_005266465.1:c.2137A>G, XM_005266467.4:c.2104A>G, XM_005266467.3:c.2104A>G, XM_005266467.2:c.2104A>G, XM_005266467.1:c.2104A>G, XM_005266447.3:c.2481A>G, XM_005266447.2:c.2481A>G, XM_005266447.1:c.2481A>G, XM_005266455.3:c.2445A>G, XM_005266455.2:c.2445A>G, XM_005266455.1:c.2445A>G, XM_017020653.3:c.2442A>G, XM_017020653.2:c.2442A>G, XM_017020653.1:c.2442A>G, XM_005266460.3:c.2377A>G, XM_005266460.2:c.2377A>G, XM_005266460.1:c.2377A>G, NM_001014286.3:c.2241A>G, NM_001014286.2:c.2241A>G, XM_017020657.3:c.2205A>G, XM_017020657.2:c.2205A>G, XM_017020657.1:c.2205A>G, XM_017020660.3:c.2101A>G, XM_017020660.2:c.2101A>G, XM_017020660.1:c.2101A>G, NM_001278482.2:c.2140A>G, NM_001278482.1:c.2140A>G, NM_001278480.2:c.2374A>G, NM_001278480.1:c.2374A>G, XM_017020654.2:c.2208A>G, XM_017020654.1:c.2208A>G, XM_017020655.2:c.2205A>G, XM_017020655.1:c.2205A>G, XM_024449379.2:c.2169A>G, XM_024449379.1:c.2169A>G, NM_001278481.2:c.2140A>G, NM_001278481.1:c.2140A>G, XM_017020658.2:c.2104A>G, XM_017020658.1:c.2104A>G, XM_017020659.2:c.2101A>G, XM_017020659.1:c.2101A>G, XM_017020661.2:c.2065A>G, XM_017020661.1:c.2065A>G, XM_047430444.1:c.2478A>G, XM_047430448.1:c.2406A>G, XM_047430449.1:c.2374A>G, XM_047430445.1:c.2409A>G, XM_047430447.1:c.2406A>G, XM_047430450.1:c.2341A>G, XM_047430452.1:c.2338A>G, XM_047430451.1:c.2338A>G, XM_047430456.1:c.2244A>G, XM_047430457.1:c.2241A>G, XM_047430453.1:c.2305A>G, XM_047430454.1:c.2302A>G, XM_047430458.1:c.2208A>G, XM_047430459.1:c.2205A>G, XM_047430462.1:c.2137A>G, XM_047430463.1:c.2101A>G, XM_047430460.1:c.2172A>G, XM_047430464.1:c.2068A>G, XP_005266518.1:p.Ser781Gly, NP_060039.1:p.Ser714Gly, XP_005266522.1:p.Ser713Gly, XP_005266524.1:p.Ser702Gly, XP_005266517.1:p.Ser793Gly, XP_016876149.1:p.Ser701Gly, NP_001265411.1:p.Ser714Gly, NP_001265409.1:p.Ser792Gly, NP_001265410.1:p.Ser714Gly, XP_016876147.1:p.Ser702Gly, XP_016876148.1:p.Ser701Gly, XP_016876150.1:p.Ser689Gly, XP_047286405.1:p.Ser792Gly, XP_047286406.1:p.Ser781Gly, XP_047286408.1:p.Ser780Gly, XP_047286407.1:p.Ser780Gly, XP_047286409.1:p.Ser769Gly, XP_047286410.1:p.Ser768Gly, XP_047286418.1:p.Ser713Gly, XP_047286419.1:p.Ser701Gly, XP_047286420.1:p.Ser690Gly

    2.

    rs1487342895 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      13:37028229 (GRCh38)
      13:37602366 (GRCh37)
      Canonical SPDI:
      NC_000013.11:37028228:G:A,NC_000013.11:37028228:G:C
      Gene:
      SUPT20H (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      NC_000013.11:g.37028229G>A, NC_000013.11:g.37028229G>C, NC_000013.10:g.37602366G>A, NC_000013.10:g.37602366G>C, XM_005266449.5:c.1073C>T, XM_005266449.5:c.1073C>G, XM_005266449.4:c.1073C>T, XM_005266449.4:c.1073C>G, XM_005266449.3:c.1073C>T, XM_005266449.3:c.1073C>G, XM_005266449.2:c.1073C>T, XM_005266449.2:c.1073C>G, XM_005266449.1:c.1073C>T, XM_005266449.1:c.1073C>G, XM_005266456.5:c.1037C>T, XM_005266456.5:c.1037C>G, XM_005266456.4:c.1037C>T, XM_005266456.4:c.1037C>G, XM_005266456.3:c.1037C>T, XM_005266456.3:c.1037C>G, XM_005266456.2:c.1037C>T, XM_005266456.2:c.1037C>G, XM_005266456.1:c.1037C>T, XM_005266456.1:c.1037C>G, XM_005266458.5:c.1034C>T, XM_005266458.5:c.1034C>G, XM_005266458.4:c.1034C>T, XM_005266458.4:c.1034C>G, XM_005266458.3:c.1034C>T, XM_005266458.3:c.1034C>G, XM_005266458.2:c.1034C>T, XM_005266458.2:c.1034C>G, XM_005266458.1:c.1034C>T, XM_005266458.1:c.1034C>G, XM_005266451.5:c.1070C>T, XM_005266451.5:c.1070C>G, XM_005266451.4:c.1070C>T, XM_005266451.4:c.1070C>G, XM_005266451.3:c.1070C>T, XM_005266451.3:c.1070C>G, XM_005266451.2:c.1070C>T, XM_005266451.2:c.1070C>G, XM_005266451.1:c.1070C>T, XM_005266451.1:c.1070C>G, XM_005266454.5:c.1037C>T, XM_005266454.5:c.1037C>G, XM_005266454.4:c.1037C>T, XM_005266454.4:c.1037C>G, XM_005266454.3:c.1037C>T, XM_005266454.3:c.1037C>G, XM_005266454.2:c.1037C>T, XM_005266454.2:c.1037C>G, XM_005266454.1:c.1037C>T, XM_005266454.1:c.1037C>G, XM_005266457.5:c.1034C>T, XM_005266457.5:c.1034C>G, XM_005266457.4:c.1034C>T, XM_005266457.4:c.1034C>G, XM_005266457.3:c.1034C>T, XM_005266457.3:c.1034C>G, XM_005266457.2:c.1034C>T, XM_005266457.2:c.1034C>G, XM_005266457.1:c.1034C>T, XM_005266457.1:c.1034C>G, XM_005266462.5:c.1073C>T, XM_005266462.5:c.1073C>G, XM_005266462.4:c.1073C>T, XM_005266462.4:c.1073C>G, XM_005266462.3:c.1073C>T, XM_005266462.3:c.1073C>G, XM_005266462.2:c.1073C>T, XM_005266462.2:c.1073C>G, XM_005266462.1:c.1073C>T, XM_005266462.1:c.1073C>G, XM_005266461.4:c.1073C>T, XM_005266461.4:c.1073C>G, XM_005266461.3:c.1073C>T, XM_005266461.3:c.1073C>G, XM_005266461.2:c.1073C>T, XM_005266461.2:c.1073C>G, XM_005266461.1:c.1073C>T, XM_005266461.1:c.1073C>G, NM_017569.4:c.1073C>T, NM_017569.4:c.1073C>G, NM_017569.3:c.1073C>T, NM_017569.3:c.1073C>G, XM_005266464.4:c.1073C>T, XM_005266464.4:c.1073C>G, XM_005266464.3:c.1073C>T, XM_005266464.3:c.1073C>G, XM_005266464.2:c.1073C>T, XM_005266464.2:c.1073C>G, XM_005266464.1:c.1073C>T, XM_005266464.1:c.1073C>G, XM_005266465.4:c.1070C>T, XM_005266465.4:c.1070C>G, XM_005266465.3:c.1070C>T, XM_005266465.3:c.1070C>G, XM_005266465.2:c.1070C>T, XM_005266465.2:c.1070C>G, XM_005266465.1:c.1070C>T, XM_005266465.1:c.1070C>G, XM_005266467.4:c.1073C>T, XM_005266467.4:c.1073C>G, XM_005266467.3:c.1073C>T, XM_005266467.3:c.1073C>G, XM_005266467.2:c.1073C>T, XM_005266467.2:c.1073C>G, XM_005266467.1:c.1073C>T, XM_005266467.1:c.1073C>G, XM_005266447.3:c.1073C>T, XM_005266447.3:c.1073C>G, XM_005266447.2:c.1073C>T, XM_005266447.2:c.1073C>G, XM_005266447.1:c.1073C>T, XM_005266447.1:c.1073C>G, XM_005266455.3:c.1073C>T, XM_005266455.3:c.1073C>G, XM_005266455.2:c.1073C>T, XM_005266455.2:c.1073C>G, XM_005266455.1:c.1073C>T, XM_005266455.1:c.1073C>G, XM_017020653.3:c.1070C>T, XM_017020653.3:c.1070C>G, XM_017020653.2:c.1070C>T, XM_017020653.2:c.1070C>G, XM_017020653.1:c.1070C>T, XM_017020653.1:c.1070C>G, XM_005266460.3:c.1073C>T, XM_005266460.3:c.1073C>G, XM_005266460.2:c.1073C>T, XM_005266460.2:c.1073C>G, XM_005266460.1:c.1073C>T, XM_005266460.1:c.1073C>G, NM_001014286.3:c.1070C>T, NM_001014286.3:c.1070C>G, NM_001014286.2:c.1070C>T, NM_001014286.2:c.1070C>G, XM_017020657.3:c.1070C>T, XM_017020657.3:c.1070C>G, XM_017020657.2:c.1070C>T, XM_017020657.2:c.1070C>G, XM_017020657.1:c.1070C>T, XM_017020657.1:c.1070C>G, XM_017020660.3:c.1070C>T, XM_017020660.3:c.1070C>G, XM_017020660.2:c.1070C>T, XM_017020660.2:c.1070C>G, XM_017020660.1:c.1070C>T, XM_017020660.1:c.1070C>G, NM_001278482.2:c.1073C>T, NM_001278482.2:c.1073C>G, NM_001278482.1:c.1073C>T, NM_001278482.1:c.1073C>G, NM_001278480.2:c.1070C>T, NM_001278480.2:c.1070C>G, NM_001278480.1:c.1070C>T, NM_001278480.1:c.1070C>G, XM_017020654.2:c.1037C>T, XM_017020654.2:c.1037C>G, XM_017020654.1:c.1037C>T, XM_017020654.1:c.1037C>G, XM_017020655.2:c.1034C>T, XM_017020655.2:c.1034C>G, XM_017020655.1:c.1034C>T, XM_017020655.1:c.1034C>G, XM_024449379.2:c.1034C>T, XM_024449379.2:c.1034C>G, XM_024449379.1:c.1034C>T, XM_024449379.1:c.1034C>G, NM_001278481.2:c.1073C>T, NM_001278481.2:c.1073C>G, NM_001278481.1:c.1073C>T, NM_001278481.1:c.1073C>G, XM_017020658.2:c.1037C>T, XM_017020658.2:c.1037C>G, XM_017020658.1:c.1037C>T, XM_017020658.1:c.1037C>G, XM_017020659.2:c.1034C>T, XM_017020659.2:c.1034C>G, XM_017020659.1:c.1034C>T, XM_017020659.1:c.1034C>G, XM_017020661.2:c.1034C>T, XM_017020661.2:c.1034C>G, XM_017020661.1:c.1034C>T, XM_017020661.1:c.1034C>G, XM_047430444.1:c.1070C>T, XM_047430444.1:c.1070C>G, XM_047430448.1:c.1034C>T, XM_047430448.1:c.1034C>G, XM_047430449.1:c.1070C>T, XM_047430449.1:c.1070C>G, XM_047430445.1:c.1037C>T, XM_047430445.1:c.1037C>G, XM_047430447.1:c.1034C>T, XM_047430447.1:c.1034C>G, XM_047430450.1:c.1037C>T, XM_047430450.1:c.1037C>G, XM_047430452.1:c.1070C>T, XM_047430452.1:c.1070C>G, XM_047430451.1:c.1034C>T, XM_047430451.1:c.1034C>G, XM_047430456.1:c.1073C>T, XM_047430456.1:c.1073C>G, XM_047430457.1:c.1070C>T, XM_047430457.1:c.1070C>G, XM_047430453.1:c.1037C>T, XM_047430453.1:c.1037C>G, XM_047430454.1:c.1034C>T, XM_047430454.1:c.1034C>G, XM_047430458.1:c.1037C>T, XM_047430458.1:c.1037C>G, XM_047430459.1:c.1070C>T, XM_047430459.1:c.1070C>G, XM_047430462.1:c.1070C>T, XM_047430462.1:c.1070C>G, XM_047430463.1:c.1070C>T, XM_047430463.1:c.1070C>G, XM_047430460.1:c.1037C>T, XM_047430460.1:c.1037C>G, XM_047430464.1:c.1037C>T, XM_047430464.1:c.1037C>G, XM_047430465.1:c.1073C>T, XM_047430465.1:c.1073C>G, XM_047430466.1:c.1070C>T, XM_047430466.1:c.1070C>G, XM_047430467.1:c.1037C>T, XM_047430467.1:c.1037C>G, XM_047430468.1:c.1034C>T, XM_047430468.1:c.1034C>G, XM_047430469.1:c.1073C>T, XM_047430469.1:c.1073C>G, XM_047430470.1:c.1034C>T, XM_047430470.1:c.1034C>G, XP_005266506.1:p.Ser358Leu, XP_005266506.1:p.Ser358Trp, XP_005266513.1:p.Ser346Leu, XP_005266513.1:p.Ser346Trp, XP_005266515.1:p.Ser345Leu, XP_005266515.1:p.Ser345Trp, XP_005266508.1:p.Ser357Leu, XP_005266508.1:p.Ser357Trp, XP_005266511.1:p.Ser346Leu, XP_005266511.1:p.Ser346Trp, XP_005266514.1:p.Ser345Leu, XP_005266514.1:p.Ser345Trp, XP_005266519.1:p.Ser358Leu, XP_005266519.1:p.Ser358Trp, XP_005266518.1:p.Ser358Leu, XP_005266518.1:p.Ser358Trp, NP_060039.1:p.Ser358Leu, NP_060039.1:p.Ser358Trp, XP_005266521.1:p.Ser358Leu, XP_005266521.1:p.Ser358Trp, XP_005266522.1:p.Ser357Leu, XP_005266522.1:p.Ser357Trp, XP_005266524.1:p.Ser358Leu, XP_005266524.1:p.Ser358Trp, XP_005266504.1:p.Ser358Leu, XP_005266504.1:p.Ser358Trp, XP_005266512.1:p.Ser358Leu, XP_005266512.1:p.Ser358Trp, XP_016876142.1:p.Ser357Leu, XP_016876142.1:p.Ser357Trp, XP_005266517.1:p.Ser358Leu, XP_005266517.1:p.Ser358Trp, NP_001014308.2:p.Ser357Leu, NP_001014308.2:p.Ser357Trp, XP_016876146.1:p.Ser357Leu, XP_016876146.1:p.Ser357Trp, XP_016876149.1:p.Ser357Leu, XP_016876149.1:p.Ser357Trp, NP_001265411.1:p.Ser358Leu, NP_001265411.1:p.Ser358Trp, NP_001265409.1:p.Ser357Leu, NP_001265409.1:p.Ser357Trp, XP_016876143.1:p.Ser346Leu, XP_016876143.1:p.Ser346Trp, XP_016876144.1:p.Ser345Leu, XP_016876144.1:p.Ser345Trp, XP_024305147.1:p.Ser345Leu, XP_024305147.1:p.Ser345Trp, NP_001265410.1:p.Ser358Leu, NP_001265410.1:p.Ser358Trp, XP_016876147.1:p.Ser346Leu, XP_016876147.1:p.Ser346Trp, XP_016876148.1:p.Ser345Leu, XP_016876148.1:p.Ser345Trp, XP_016876150.1:p.Ser345Leu, XP_016876150.1:p.Ser345Trp, XP_047286400.1:p.Ser357Leu, XP_047286400.1:p.Ser357Trp, XP_047286404.1:p.Ser345Leu, XP_047286404.1:p.Ser345Trp, XP_047286405.1:p.Ser357Leu, XP_047286405.1:p.Ser357Trp, XP_047286401.1:p.Ser346Leu, XP_047286401.1:p.Ser346Trp, XP_047286403.1:p.Ser345Leu, XP_047286403.1:p.Ser345Trp, XP_047286406.1:p.Ser346Leu, XP_047286406.1:p.Ser346Trp, XP_047286408.1:p.Ser357Leu, XP_047286408.1:p.Ser357Trp, XP_047286407.1:p.Ser345Leu, XP_047286407.1:p.Ser345Trp, XP_047286412.1:p.Ser358Leu, XP_047286412.1:p.Ser358Trp, XP_047286413.1:p.Ser357Leu, XP_047286413.1:p.Ser357Trp, XP_047286409.1:p.Ser346Leu, XP_047286409.1:p.Ser346Trp, XP_047286410.1:p.Ser345Leu, XP_047286410.1:p.Ser345Trp, XP_047286414.1:p.Ser346Leu, XP_047286414.1:p.Ser346Trp, XP_047286415.1:p.Ser357Leu, XP_047286415.1:p.Ser357Trp, XP_047286418.1:p.Ser357Leu, XP_047286418.1:p.Ser357Trp, XP_047286419.1:p.Ser357Leu, XP_047286419.1:p.Ser357Trp, XP_047286416.1:p.Ser346Leu, XP_047286416.1:p.Ser346Trp, XP_047286420.1:p.Ser346Leu, XP_047286420.1:p.Ser346Trp, XP_047286421.1:p.Ser358Leu, XP_047286421.1:p.Ser358Trp, XP_047286422.1:p.Ser357Leu, XP_047286422.1:p.Ser357Trp, XP_047286423.1:p.Ser346Leu, XP_047286423.1:p.Ser346Trp, XP_047286424.1:p.Ser345Leu, XP_047286424.1:p.Ser345Trp, XP_047286425.1:p.Ser358Leu, XP_047286425.1:p.Ser358Trp, XP_047286426.1:p.Ser345Leu, XP_047286426.1:p.Ser345Trp

      3.

      rs1485719287 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        13:37045366 (GRCh38)
        13:37619503 (GRCh37)
        Canonical SPDI:
        NC_000013.11:37045365:C:T
        Gene:
        SUPT20H (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_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_000013.11:g.37045366C>T, NC_000013.10:g.37619503C>T, XM_005266449.5:c.176G>A, XM_005266449.4:c.176G>A, XM_005266449.3:c.176G>A, XM_005266449.2:c.176G>A, XM_005266449.1:c.176G>A, XM_005266456.5:c.140G>A, XM_005266456.4:c.140G>A, XM_005266456.3:c.140G>A, XM_005266456.2:c.140G>A, XM_005266456.1:c.140G>A, XM_005266458.5:c.137G>A, XM_005266458.4:c.137G>A, XM_005266458.3:c.137G>A, XM_005266458.2:c.137G>A, XM_005266458.1:c.137G>A, XM_005266451.5:c.173G>A, XM_005266451.4:c.173G>A, XM_005266451.3:c.173G>A, XM_005266451.2:c.173G>A, XM_005266451.1:c.173G>A, XM_005266454.5:c.140G>A, XM_005266454.4:c.140G>A, XM_005266454.3:c.140G>A, XM_005266454.2:c.140G>A, XM_005266454.1:c.140G>A, XM_005266457.5:c.137G>A, XM_005266457.4:c.137G>A, XM_005266457.3:c.137G>A, XM_005266457.2:c.137G>A, XM_005266457.1:c.137G>A, XM_005266462.5:c.176G>A, XM_005266462.4:c.176G>A, XM_005266462.3:c.176G>A, XM_005266462.2:c.176G>A, XM_005266462.1:c.176G>A, XM_005266461.4:c.176G>A, XM_005266461.3:c.176G>A, XM_005266461.2:c.176G>A, XM_005266461.1:c.176G>A, NM_017569.4:c.176G>A, NM_017569.3:c.176G>A, XM_005266464.4:c.176G>A, XM_005266464.3:c.176G>A, XM_005266464.2:c.176G>A, XM_005266464.1:c.176G>A, XM_005266465.4:c.173G>A, XM_005266465.3:c.173G>A, XM_005266465.2:c.173G>A, XM_005266465.1:c.173G>A, XM_005266467.4:c.176G>A, XM_005266467.3:c.176G>A, XM_005266467.2:c.176G>A, XM_005266467.1:c.176G>A, XM_005266447.3:c.176G>A, XM_005266447.2:c.176G>A, XM_005266447.1:c.176G>A, XM_005266455.3:c.176G>A, XM_005266455.2:c.176G>A, XM_005266455.1:c.176G>A, XM_017020653.3:c.173G>A, XM_017020653.2:c.173G>A, XM_017020653.1:c.173G>A, XM_005266460.3:c.176G>A, XM_005266460.2:c.176G>A, XM_005266460.1:c.176G>A, NM_001014286.3:c.173G>A, NM_001014286.2:c.173G>A, XM_017020657.3:c.173G>A, XM_017020657.2:c.173G>A, XM_017020657.1:c.173G>A, XM_017020660.3:c.173G>A, XM_017020660.2:c.173G>A, XM_017020660.1:c.173G>A, NM_001278482.2:c.176G>A, NM_001278482.1:c.176G>A, NM_001278480.2:c.173G>A, NM_001278480.1:c.173G>A, XM_017020654.2:c.140G>A, XM_017020654.1:c.140G>A, XM_017020655.2:c.137G>A, XM_017020655.1:c.137G>A, XM_024449379.2:c.137G>A, XM_024449379.1:c.137G>A, NM_001278481.2:c.176G>A, NM_001278481.1:c.176G>A, XM_017020658.2:c.140G>A, XM_017020658.1:c.140G>A, XM_017020659.2:c.137G>A, XM_017020659.1:c.137G>A, XM_017020661.2:c.137G>A, XM_017020661.1:c.137G>A, XM_047430444.1:c.173G>A, XM_047430448.1:c.137G>A, XM_047430449.1:c.173G>A, XM_047430445.1:c.140G>A, XM_047430447.1:c.137G>A, XM_047430450.1:c.140G>A, XM_047430452.1:c.173G>A, XM_047430451.1:c.137G>A, XM_047430456.1:c.176G>A, XM_047430457.1:c.173G>A, XM_047430453.1:c.140G>A, XM_047430454.1:c.137G>A, XM_047430458.1:c.140G>A, XM_047430459.1:c.173G>A, XM_047430462.1:c.173G>A, XM_047430463.1:c.173G>A, XM_047430460.1:c.140G>A, XM_047430464.1:c.140G>A, XM_047430465.1:c.176G>A, XM_047430466.1:c.173G>A, XM_047430467.1:c.140G>A, XM_047430468.1:c.137G>A, XM_047430469.1:c.176G>A, XM_047430470.1:c.137G>A, XP_005266506.1:p.Arg59Lys, XP_005266513.1:p.Arg47Lys, XP_005266515.1:p.Arg46Lys, XP_005266508.1:p.Arg58Lys, XP_005266511.1:p.Arg47Lys, XP_005266514.1:p.Arg46Lys, XP_005266519.1:p.Arg59Lys, XP_005266518.1:p.Arg59Lys, NP_060039.1:p.Arg59Lys, XP_005266521.1:p.Arg59Lys, XP_005266522.1:p.Arg58Lys, XP_005266524.1:p.Arg59Lys, XP_005266504.1:p.Arg59Lys, XP_005266512.1:p.Arg59Lys, XP_016876142.1:p.Arg58Lys, XP_005266517.1:p.Arg59Lys, NP_001014308.2:p.Arg58Lys, XP_016876146.1:p.Arg58Lys, XP_016876149.1:p.Arg58Lys, NP_001265411.1:p.Arg59Lys, NP_001265409.1:p.Arg58Lys, XP_016876143.1:p.Arg47Lys, XP_016876144.1:p.Arg46Lys, XP_024305147.1:p.Arg46Lys, NP_001265410.1:p.Arg59Lys, XP_016876147.1:p.Arg47Lys, XP_016876148.1:p.Arg46Lys, XP_016876150.1:p.Arg46Lys, XP_047286400.1:p.Arg58Lys, XP_047286404.1:p.Arg46Lys, XP_047286405.1:p.Arg58Lys, XP_047286401.1:p.Arg47Lys, XP_047286403.1:p.Arg46Lys, XP_047286406.1:p.Arg47Lys, XP_047286408.1:p.Arg58Lys, XP_047286407.1:p.Arg46Lys, XP_047286412.1:p.Arg59Lys, XP_047286413.1:p.Arg58Lys, XP_047286409.1:p.Arg47Lys, XP_047286410.1:p.Arg46Lys, XP_047286414.1:p.Arg47Lys, XP_047286415.1:p.Arg58Lys, XP_047286418.1:p.Arg58Lys, XP_047286419.1:p.Arg58Lys, XP_047286416.1:p.Arg47Lys, XP_047286420.1:p.Arg47Lys, XP_047286421.1:p.Arg59Lys, XP_047286422.1:p.Arg58Lys, XP_047286423.1:p.Arg47Lys, XP_047286424.1:p.Arg46Lys, XP_047286425.1:p.Arg59Lys, XP_047286426.1:p.Arg46Lys

        4.

        rs1483853749 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          13:37026814 (GRCh38)
          13:37600951 (GRCh37)
          Canonical SPDI:
          NC_000013.11:37026813:G:A
          Gene:
          SUPT20H (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000014/2 (GnomAD)
          A=0.000035/1 (TOMMO)
          HGVS:
          NC_000013.11:g.37026814G>A, NC_000013.10:g.37600951G>A, XM_005266449.5:c.1157C>T, XM_005266449.4:c.1157C>T, XM_005266449.3:c.1157C>T, XM_005266449.2:c.1157C>T, XM_005266449.1:c.1157C>T, XM_005266456.5:c.1121C>T, XM_005266456.4:c.1121C>T, XM_005266456.3:c.1121C>T, XM_005266456.2:c.1121C>T, XM_005266456.1:c.1121C>T, XM_005266458.5:c.1118C>T, XM_005266458.4:c.1118C>T, XM_005266458.3:c.1118C>T, XM_005266458.2:c.1118C>T, XM_005266458.1:c.1118C>T, XM_005266451.5:c.1154C>T, XM_005266451.4:c.1154C>T, XM_005266451.3:c.1154C>T, XM_005266451.2:c.1154C>T, XM_005266451.1:c.1154C>T, XM_005266454.5:c.1121C>T, XM_005266454.4:c.1121C>T, XM_005266454.3:c.1121C>T, XM_005266454.2:c.1121C>T, XM_005266454.1:c.1121C>T, XM_005266457.5:c.1118C>T, XM_005266457.4:c.1118C>T, XM_005266457.3:c.1118C>T, XM_005266457.2:c.1118C>T, XM_005266457.1:c.1118C>T, XM_005266462.5:c.1157C>T, XM_005266462.4:c.1157C>T, XM_005266462.3:c.1157C>T, XM_005266462.2:c.1157C>T, XM_005266462.1:c.1157C>T, XM_005266461.4:c.1157C>T, XM_005266461.3:c.1157C>T, XM_005266461.2:c.1157C>T, XM_005266461.1:c.1157C>T, NM_017569.4:c.1157C>T, NM_017569.3:c.1157C>T, XM_005266464.4:c.1157C>T, XM_005266464.3:c.1157C>T, XM_005266464.2:c.1157C>T, XM_005266464.1:c.1157C>T, XM_005266465.4:c.1154C>T, XM_005266465.3:c.1154C>T, XM_005266465.2:c.1154C>T, XM_005266465.1:c.1154C>T, XM_005266467.4:c.1157C>T, XM_005266467.3:c.1157C>T, XM_005266467.2:c.1157C>T, XM_005266467.1:c.1157C>T, XM_005266447.3:c.1157C>T, XM_005266447.2:c.1157C>T, XM_005266447.1:c.1157C>T, XM_005266455.3:c.1157C>T, XM_005266455.2:c.1157C>T, XM_005266455.1:c.1157C>T, XM_017020653.3:c.1154C>T, XM_017020653.2:c.1154C>T, XM_017020653.1:c.1154C>T, XM_005266460.3:c.1157C>T, XM_005266460.2:c.1157C>T, XM_005266460.1:c.1157C>T, NM_001014286.3:c.1154C>T, NM_001014286.2:c.1154C>T, XM_017020657.3:c.1154C>T, XM_017020657.2:c.1154C>T, XM_017020657.1:c.1154C>T, XM_017020660.3:c.1154C>T, XM_017020660.2:c.1154C>T, XM_017020660.1:c.1154C>T, NM_001278482.2:c.1157C>T, NM_001278482.1:c.1157C>T, NM_001278480.2:c.1154C>T, NM_001278480.1:c.1154C>T, XM_017020654.2:c.1121C>T, XM_017020654.1:c.1121C>T, XM_017020655.2:c.1118C>T, XM_017020655.1:c.1118C>T, XM_024449379.2:c.1118C>T, XM_024449379.1:c.1118C>T, NM_001278481.2:c.1157C>T, NM_001278481.1:c.1157C>T, XM_017020658.2:c.1121C>T, XM_017020658.1:c.1121C>T, XM_017020659.2:c.1118C>T, XM_017020659.1:c.1118C>T, XM_017020661.2:c.1118C>T, XM_017020661.1:c.1118C>T, XM_047430444.1:c.1154C>T, XM_047430448.1:c.1118C>T, XM_047430449.1:c.1154C>T, XM_047430445.1:c.1121C>T, XM_047430447.1:c.1118C>T, XM_047430450.1:c.1121C>T, XM_047430452.1:c.1154C>T, XM_047430451.1:c.1118C>T, XM_047430456.1:c.1157C>T, XM_047430457.1:c.1154C>T, XM_047430453.1:c.1121C>T, XM_047430454.1:c.1118C>T, XM_047430458.1:c.1121C>T, XM_047430459.1:c.1154C>T, XM_047430462.1:c.1154C>T, XM_047430463.1:c.1154C>T, XM_047430460.1:c.1121C>T, XM_047430464.1:c.1121C>T, XM_047430465.1:c.1157C>T, XM_047430466.1:c.1154C>T, XM_047430467.1:c.1121C>T, XM_047430468.1:c.1118C>T, XM_047430469.1:c.1157C>T, XM_047430470.1:c.1118C>T, XP_005266506.1:p.Ser386Leu, XP_005266513.1:p.Ser374Leu, XP_005266515.1:p.Ser373Leu, XP_005266508.1:p.Ser385Leu, XP_005266511.1:p.Ser374Leu, XP_005266514.1:p.Ser373Leu, XP_005266519.1:p.Ser386Leu, XP_005266518.1:p.Ser386Leu, NP_060039.1:p.Ser386Leu, XP_005266521.1:p.Ser386Leu, XP_005266522.1:p.Ser385Leu, XP_005266524.1:p.Ser386Leu, XP_005266504.1:p.Ser386Leu, XP_005266512.1:p.Ser386Leu, XP_016876142.1:p.Ser385Leu, XP_005266517.1:p.Ser386Leu, NP_001014308.2:p.Ser385Leu, XP_016876146.1:p.Ser385Leu, XP_016876149.1:p.Ser385Leu, NP_001265411.1:p.Ser386Leu, NP_001265409.1:p.Ser385Leu, XP_016876143.1:p.Ser374Leu, XP_016876144.1:p.Ser373Leu, XP_024305147.1:p.Ser373Leu, NP_001265410.1:p.Ser386Leu, XP_016876147.1:p.Ser374Leu, XP_016876148.1:p.Ser373Leu, XP_016876150.1:p.Ser373Leu, XP_047286400.1:p.Ser385Leu, XP_047286404.1:p.Ser373Leu, XP_047286405.1:p.Ser385Leu, XP_047286401.1:p.Ser374Leu, XP_047286403.1:p.Ser373Leu, XP_047286406.1:p.Ser374Leu, XP_047286408.1:p.Ser385Leu, XP_047286407.1:p.Ser373Leu, XP_047286412.1:p.Ser386Leu, XP_047286413.1:p.Ser385Leu, XP_047286409.1:p.Ser374Leu, XP_047286410.1:p.Ser373Leu, XP_047286414.1:p.Ser374Leu, XP_047286415.1:p.Ser385Leu, XP_047286418.1:p.Ser385Leu, XP_047286419.1:p.Ser385Leu, XP_047286416.1:p.Ser374Leu, XP_047286420.1:p.Ser374Leu, XP_047286421.1:p.Ser386Leu, XP_047286422.1:p.Ser385Leu, XP_047286423.1:p.Ser374Leu, XP_047286424.1:p.Ser373Leu, XP_047286425.1:p.Ser386Leu, XP_047286426.1:p.Ser373Leu

          5.

          rs1483320005 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            13:37021579 (GRCh38)
            13:37595716 (GRCh37)
            Canonical SPDI:
            NC_000013.11:37021578:C:T
            Gene:
            SUPT20H (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000013.11:g.37021579C>T, NC_000013.10:g.37595716C>T, XM_005266449.5:c.1925G>A, XM_005266449.4:c.1925G>A, XM_005266449.3:c.1925G>A, XM_005266449.2:c.1925G>A, XM_005266449.1:c.1925G>A, XM_005266456.5:c.1889G>A, XM_005266456.4:c.1889G>A, XM_005266456.3:c.1889G>A, XM_005266456.2:c.1889G>A, XM_005266456.1:c.1889G>A, XM_005266458.5:c.1886G>A, XM_005266458.4:c.1886G>A, XM_005266458.3:c.1886G>A, XM_005266458.2:c.1886G>A, XM_005266458.1:c.1886G>A, XM_005266451.5:c.1922G>A, XM_005266451.4:c.1922G>A, XM_005266451.3:c.1922G>A, XM_005266451.2:c.1922G>A, XM_005266451.1:c.1922G>A, XM_005266454.5:c.1889G>A, XM_005266454.4:c.1889G>A, XM_005266454.3:c.1889G>A, XM_005266454.2:c.1889G>A, XM_005266454.1:c.1889G>A, XM_005266457.5:c.1886G>A, XM_005266457.4:c.1886G>A, XM_005266457.3:c.1886G>A, XM_005266457.2:c.1886G>A, XM_005266457.1:c.1886G>A, XM_005266462.5:c.1688G>A, XM_005266462.4:c.1688G>A, XM_005266462.3:c.1688G>A, XM_005266462.2:c.1688G>A, XM_005266462.1:c.1688G>A, XM_005266461.4:c.1925G>A, XM_005266461.3:c.1925G>A, XM_005266461.2:c.1925G>A, XM_005266461.1:c.1925G>A, NM_017569.4:c.1688G>A, NM_017569.3:c.1688G>A, XM_005266464.4:c.1688G>A, XM_005266464.3:c.1688G>A, XM_005266464.2:c.1688G>A, XM_005266464.1:c.1688G>A, XM_005266465.4:c.1685G>A, XM_005266465.3:c.1685G>A, XM_005266465.2:c.1685G>A, XM_005266465.1:c.1685G>A, XM_005266467.4:c.1688G>A, XM_005266467.3:c.1688G>A, XM_005266467.2:c.1688G>A, XM_005266467.1:c.1688G>A, XM_005266447.3:c.1925G>A, XM_005266447.2:c.1925G>A, XM_005266447.1:c.1925G>A, XM_005266455.3:c.1925G>A, XM_005266455.2:c.1925G>A, XM_005266455.1:c.1925G>A, XM_017020653.3:c.1922G>A, XM_017020653.2:c.1922G>A, XM_017020653.1:c.1922G>A, XM_005266460.3:c.1925G>A, XM_005266460.2:c.1925G>A, XM_005266460.1:c.1925G>A, NM_001014286.3:c.1685G>A, NM_001014286.2:c.1685G>A, XM_017020657.3:c.1685G>A, XM_017020657.2:c.1685G>A, XM_017020657.1:c.1685G>A, XM_017020660.3:c.1685G>A, XM_017020660.2:c.1685G>A, XM_017020660.1:c.1685G>A, NM_001278482.2:c.1688G>A, NM_001278482.1:c.1688G>A, NM_001278480.2:c.1922G>A, NM_001278480.1:c.1922G>A, XM_017020654.2:c.1652G>A, XM_017020654.1:c.1652G>A, XM_017020655.2:c.1649G>A, XM_017020655.1:c.1649G>A, XM_024449379.2:c.1649G>A, XM_024449379.1:c.1649G>A, NM_001278481.2:c.1688G>A, NM_001278481.1:c.1688G>A, XM_017020658.2:c.1652G>A, XM_017020658.1:c.1652G>A, XM_017020659.2:c.1649G>A, XM_017020659.1:c.1649G>A, XM_017020661.2:c.1649G>A, XM_017020661.1:c.1649G>A, XM_047430444.1:c.1922G>A, XM_047430448.1:c.1886G>A, XM_047430449.1:c.1922G>A, XM_047430445.1:c.1889G>A, XM_047430447.1:c.1886G>A, XM_047430450.1:c.1889G>A, XM_047430452.1:c.1922G>A, XM_047430451.1:c.1886G>A, XM_047430456.1:c.1688G>A, XM_047430457.1:c.1685G>A, XM_047430453.1:c.1889G>A, XM_047430454.1:c.1886G>A, XM_047430458.1:c.1652G>A, XM_047430459.1:c.1685G>A, XM_047430462.1:c.1685G>A, XM_047430463.1:c.1685G>A, XM_047430460.1:c.1652G>A, XM_047430464.1:c.1652G>A, XP_005266506.1:p.Gly642Asp, XP_005266513.1:p.Gly630Asp, XP_005266515.1:p.Gly629Asp, XP_005266508.1:p.Gly641Asp, XP_005266511.1:p.Gly630Asp, XP_005266514.1:p.Gly629Asp, XP_005266519.1:p.Gly563Asp, XP_005266518.1:p.Gly642Asp, NP_060039.1:p.Gly563Asp, XP_005266521.1:p.Gly563Asp, XP_005266522.1:p.Gly562Asp, XP_005266524.1:p.Gly563Asp, XP_005266504.1:p.Gly642Asp, XP_005266512.1:p.Gly642Asp, XP_016876142.1:p.Gly641Asp, XP_005266517.1:p.Gly642Asp, NP_001014308.2:p.Gly562Asp, XP_016876146.1:p.Gly562Asp, XP_016876149.1:p.Gly562Asp, NP_001265411.1:p.Gly563Asp, NP_001265409.1:p.Gly641Asp, XP_016876143.1:p.Gly551Asp, XP_016876144.1:p.Gly550Asp, XP_024305147.1:p.Gly550Asp, NP_001265410.1:p.Gly563Asp, XP_016876147.1:p.Gly551Asp, XP_016876148.1:p.Gly550Asp, XP_016876150.1:p.Gly550Asp, XP_047286400.1:p.Gly641Asp, XP_047286404.1:p.Gly629Asp, XP_047286405.1:p.Gly641Asp, XP_047286401.1:p.Gly630Asp, XP_047286403.1:p.Gly629Asp, XP_047286406.1:p.Gly630Asp, XP_047286408.1:p.Gly641Asp, XP_047286407.1:p.Gly629Asp, XP_047286412.1:p.Gly563Asp, XP_047286413.1:p.Gly562Asp, XP_047286409.1:p.Gly630Asp, XP_047286410.1:p.Gly629Asp, XP_047286414.1:p.Gly551Asp, XP_047286415.1:p.Gly562Asp, XP_047286418.1:p.Gly562Asp, XP_047286419.1:p.Gly562Asp, XP_047286416.1:p.Gly551Asp, XP_047286420.1:p.Gly551Asp

            6.

            rs1483233397 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              13:37017321 (GRCh38)
              13:37591458 (GRCh37)
              Canonical SPDI:
              NC_000013.11:37017320:T:G
              Gene:
              SUPT20H (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.37017321T>G, NC_000013.10:g.37591458T>G, XM_005266449.5:c.2156A>C, XM_005266449.4:c.2156A>C, XM_005266449.3:c.2156A>C, XM_005266449.2:c.2156A>C, XM_005266449.1:c.2156A>C, XM_005266456.5:c.2120A>C, XM_005266456.4:c.2120A>C, XM_005266456.3:c.2120A>C, XM_005266456.2:c.2120A>C, XM_005266456.1:c.2120A>C, XM_005266458.5:c.2117A>C, XM_005266458.4:c.2117A>C, XM_005266458.3:c.2117A>C, XM_005266458.2:c.2117A>C, XM_005266458.1:c.2117A>C, XM_005266451.5:c.2153A>C, XM_005266451.4:c.2153A>C, XM_005266451.3:c.2153A>C, XM_005266451.2:c.2153A>C, XM_005266451.1:c.2153A>C, XM_005266454.5:c.2120A>C, XM_005266454.4:c.2120A>C, XM_005266454.3:c.2120A>C, XM_005266454.2:c.2120A>C, XM_005266454.1:c.2120A>C, XM_005266457.5:c.2117A>C, XM_005266457.4:c.2117A>C, XM_005266457.3:c.2117A>C, XM_005266457.2:c.2117A>C, XM_005266457.1:c.2117A>C, XM_005266462.5:c.1919A>C, XM_005266462.4:c.1919A>C, XM_005266462.3:c.1919A>C, XM_005266462.2:c.1919A>C, XM_005266462.1:c.1919A>C, XM_005266461.4:c.2120A>C, XM_005266461.3:c.2120A>C, XM_005266461.2:c.2120A>C, XM_005266461.1:c.2120A>C, NM_017569.4:c.1919A>C, NM_017569.3:c.1919A>C, XM_005266464.4:c.1883A>C, XM_005266464.3:c.1883A>C, XM_005266464.2:c.1883A>C, XM_005266464.1:c.1883A>C, XM_005266465.4:c.1916A>C, XM_005266465.3:c.1916A>C, XM_005266465.2:c.1916A>C, XM_005266465.1:c.1916A>C, XM_005266467.4:c.1883A>C, XM_005266467.3:c.1883A>C, XM_005266467.2:c.1883A>C, XM_005266467.1:c.1883A>C, XM_005266447.3:c.2156A>C, XM_005266447.2:c.2156A>C, XM_005266447.1:c.2156A>C, XM_005266455.3:c.2120A>C, XM_005266455.2:c.2120A>C, XM_005266455.1:c.2120A>C, XM_017020653.3:c.2117A>C, XM_017020653.2:c.2117A>C, XM_017020653.1:c.2117A>C, XM_005266460.3:c.2156A>C, XM_005266460.2:c.2156A>C, XM_005266460.1:c.2156A>C, NM_001014286.3:c.1916A>C, NM_001014286.2:c.1916A>C, XM_017020657.3:c.1880A>C, XM_017020657.2:c.1880A>C, XM_017020657.1:c.1880A>C, XM_017020660.3:c.1880A>C, XM_017020660.2:c.1880A>C, XM_017020660.1:c.1880A>C, NM_001278482.2:c.1919A>C, NM_001278482.1:c.1919A>C, NM_001278480.2:c.2153A>C, NM_001278480.1:c.2153A>C, XM_017020654.2:c.1883A>C, XM_017020654.1:c.1883A>C, XM_017020655.2:c.1880A>C, XM_017020655.1:c.1880A>C, XM_024449379.2:c.1844A>C, XM_024449379.1:c.1844A>C, NM_001278481.2:c.1919A>C, NM_001278481.1:c.1919A>C, XM_017020658.2:c.1883A>C, XM_017020658.1:c.1883A>C, XM_017020659.2:c.1880A>C, XM_017020659.1:c.1880A>C, XM_017020661.2:c.1844A>C, XM_017020661.1:c.1844A>C, XM_047430444.1:c.2153A>C, XM_047430448.1:c.2081A>C, XM_047430449.1:c.2153A>C, XM_047430445.1:c.2084A>C, XM_047430447.1:c.2081A>C, XM_047430450.1:c.2120A>C, XM_047430452.1:c.2117A>C, XM_047430451.1:c.2117A>C, XM_047430456.1:c.1919A>C, XM_047430457.1:c.1916A>C, XM_047430453.1:c.2084A>C, XM_047430454.1:c.2081A>C, XM_047430458.1:c.1883A>C, XM_047430459.1:c.1880A>C, XM_047430462.1:c.1916A>C, XM_047430463.1:c.1880A>C, XM_047430460.1:c.1847A>C, XM_047430464.1:c.1847A>C, XP_005266506.1:p.Gln719Pro, XP_005266513.1:p.Gln707Pro, XP_005266515.1:p.Gln706Pro, XP_005266508.1:p.Gln718Pro, XP_005266511.1:p.Gln707Pro, XP_005266514.1:p.Gln706Pro, XP_005266519.1:p.Gln640Pro, XP_005266518.1:p.Gln707Pro, NP_060039.1:p.Gln640Pro, XP_005266521.1:p.Gln628Pro, XP_005266522.1:p.Gln639Pro, XP_005266524.1:p.Gln628Pro, XP_005266504.1:p.Gln719Pro, XP_005266512.1:p.Gln707Pro, XP_016876142.1:p.Gln706Pro, XP_005266517.1:p.Gln719Pro, NP_001014308.2:p.Gln639Pro, XP_016876146.1:p.Gln627Pro, XP_016876149.1:p.Gln627Pro, NP_001265411.1:p.Gln640Pro, NP_001265409.1:p.Gln718Pro, XP_016876143.1:p.Gln628Pro, XP_016876144.1:p.Gln627Pro, XP_024305147.1:p.Gln615Pro, NP_001265410.1:p.Gln640Pro, XP_016876147.1:p.Gln628Pro, XP_016876148.1:p.Gln627Pro, XP_016876150.1:p.Gln615Pro, XP_047286400.1:p.Gln718Pro, XP_047286404.1:p.Gln694Pro, XP_047286405.1:p.Gln718Pro, XP_047286401.1:p.Gln695Pro, XP_047286403.1:p.Gln694Pro, XP_047286406.1:p.Gln707Pro, XP_047286408.1:p.Gln706Pro, XP_047286407.1:p.Gln706Pro, XP_047286412.1:p.Gln640Pro, XP_047286413.1:p.Gln639Pro, XP_047286409.1:p.Gln695Pro, XP_047286410.1:p.Gln694Pro, XP_047286414.1:p.Gln628Pro, XP_047286415.1:p.Gln627Pro, XP_047286418.1:p.Gln639Pro, XP_047286419.1:p.Gln627Pro, XP_047286416.1:p.Gln616Pro, XP_047286420.1:p.Gln616Pro

              7.

              rs1482779841 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                13:37012222 (GRCh38)
                13:37586359 (GRCh37)
                Canonical SPDI:
                NC_000013.11:37012221:C:A,NC_000013.11:37012221:C:T
                Gene:
                SUPT20H (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000013.11:g.37012222C>A, NC_000013.11:g.37012222C>T, NC_000013.10:g.37586359C>A, NC_000013.10:g.37586359C>T, XM_005266449.5:c.2308G>T, XM_005266449.5:c.2308G>A, XM_005266449.4:c.2308G>T, XM_005266449.4:c.2308G>A, XM_005266449.3:c.2308G>T, XM_005266449.3:c.2308G>A, XM_005266449.2:c.2308G>T, XM_005266449.2:c.2308G>A, XM_005266449.1:c.2308G>T, XM_005266449.1:c.2308G>A, XM_005266456.5:c.2272G>T, XM_005266456.5:c.2272G>A, XM_005266456.4:c.2272G>T, XM_005266456.4:c.2272G>A, XM_005266456.3:c.2272G>T, XM_005266456.3:c.2272G>A, XM_005266456.2:c.2272G>T, XM_005266456.2:c.2272G>A, XM_005266456.1:c.2272G>T, XM_005266456.1:c.2272G>A, XM_005266458.5:c.2269G>T, XM_005266458.5:c.2269G>A, XM_005266458.4:c.2269G>T, XM_005266458.4:c.2269G>A, XM_005266458.3:c.2269G>T, XM_005266458.3:c.2269G>A, XM_005266458.2:c.2269G>T, XM_005266458.2:c.2269G>A, XM_005266458.1:c.2269G>T, XM_005266458.1:c.2269G>A, XM_005266451.5:c.2305G>T, XM_005266451.5:c.2305G>A, XM_005266451.4:c.2305G>T, XM_005266451.4:c.2305G>A, XM_005266451.3:c.2305G>T, XM_005266451.3:c.2305G>A, XM_005266451.2:c.2305G>T, XM_005266451.2:c.2305G>A, XM_005266451.1:c.2305G>T, XM_005266451.1:c.2305G>A, XM_005266454.5:c.2272G>T, XM_005266454.5:c.2272G>A, XM_005266454.4:c.2272G>T, XM_005266454.4:c.2272G>A, XM_005266454.3:c.2272G>T, XM_005266454.3:c.2272G>A, XM_005266454.2:c.2272G>T, XM_005266454.2:c.2272G>A, XM_005266454.1:c.2272G>T, XM_005266454.1:c.2272G>A, XM_005266457.5:c.2269G>T, XM_005266457.5:c.2269G>A, XM_005266457.4:c.2269G>T, XM_005266457.4:c.2269G>A, XM_005266457.3:c.2269G>T, XM_005266457.3:c.2269G>A, XM_005266457.2:c.2269G>T, XM_005266457.2:c.2269G>A, XM_005266457.1:c.2269G>T, XM_005266457.1:c.2269G>A, XM_005266462.5:c.2071G>T, XM_005266462.5:c.2071G>A, XM_005266462.4:c.2071G>T, XM_005266462.4:c.2071G>A, XM_005266462.3:c.2071G>T, XM_005266462.3:c.2071G>A, XM_005266462.2:c.2071G>T, XM_005266462.2:c.2071G>A, XM_005266462.1:c.2071G>T, XM_005266462.1:c.2071G>A, XM_005266461.4:c.2272G>T, XM_005266461.4:c.2272G>A, XM_005266461.3:c.2272G>T, XM_005266461.3:c.2272G>A, XM_005266461.2:c.2272G>T, XM_005266461.2:c.2272G>A, XM_005266461.1:c.2272G>T, XM_005266461.1:c.2272G>A, NM_017569.4:c.2071G>T, NM_017569.4:c.2071G>A, NM_017569.3:c.2071G>T, NM_017569.3:c.2071G>A, XM_005266464.4:c.2035G>T, XM_005266464.4:c.2035G>A, XM_005266464.3:c.2035G>T, XM_005266464.3:c.2035G>A, XM_005266464.2:c.2035G>T, XM_005266464.2:c.2035G>A, XM_005266464.1:c.2035G>T, XM_005266464.1:c.2035G>A, XM_005266465.4:c.2068G>T, XM_005266465.4:c.2068G>A, XM_005266465.3:c.2068G>T, XM_005266465.3:c.2068G>A, XM_005266465.2:c.2068G>T, XM_005266465.2:c.2068G>A, XM_005266465.1:c.2068G>T, XM_005266465.1:c.2068G>A, XM_005266467.4:c.2035G>T, XM_005266467.4:c.2035G>A, XM_005266467.3:c.2035G>T, XM_005266467.3:c.2035G>A, XM_005266467.2:c.2035G>T, XM_005266467.2:c.2035G>A, XM_005266467.1:c.2035G>T, XM_005266467.1:c.2035G>A, XM_005266447.3:c.2308G>T, XM_005266447.3:c.2308G>A, XM_005266447.2:c.2308G>T, XM_005266447.2:c.2308G>A, XM_005266447.1:c.2308G>T, XM_005266447.1:c.2308G>A, XM_005266455.3:c.2272G>T, XM_005266455.3:c.2272G>A, XM_005266455.2:c.2272G>T, XM_005266455.2:c.2272G>A, XM_005266455.1:c.2272G>T, XM_005266455.1:c.2272G>A, XM_017020653.3:c.2269G>T, XM_017020653.3:c.2269G>A, XM_017020653.2:c.2269G>T, XM_017020653.2:c.2269G>A, XM_017020653.1:c.2269G>T, XM_017020653.1:c.2269G>A, XM_005266460.3:c.2308G>T, XM_005266460.3:c.2308G>A, XM_005266460.2:c.2308G>T, XM_005266460.2:c.2308G>A, XM_005266460.1:c.2308G>T, XM_005266460.1:c.2308G>A, NM_001014286.3:c.2068G>T, NM_001014286.3:c.2068G>A, NM_001014286.2:c.2068G>T, NM_001014286.2:c.2068G>A, XM_017020657.3:c.2032G>T, XM_017020657.3:c.2032G>A, XM_017020657.2:c.2032G>T, XM_017020657.2:c.2032G>A, XM_017020657.1:c.2032G>T, XM_017020657.1:c.2032G>A, XM_017020660.3:c.2032G>T, XM_017020660.3:c.2032G>A, XM_017020660.2:c.2032G>T, XM_017020660.2:c.2032G>A, XM_017020660.1:c.2032G>T, XM_017020660.1:c.2032G>A, NM_001278482.2:c.2071G>T, NM_001278482.2:c.2071G>A, NM_001278482.1:c.2071G>T, NM_001278482.1:c.2071G>A, NM_001278480.2:c.2305G>T, NM_001278480.2:c.2305G>A, NM_001278480.1:c.2305G>T, NM_001278480.1:c.2305G>A, XM_017020654.2:c.2035G>T, XM_017020654.2:c.2035G>A, XM_017020654.1:c.2035G>T, XM_017020654.1:c.2035G>A, XM_017020655.2:c.2032G>T, XM_017020655.2:c.2032G>A, XM_017020655.1:c.2032G>T, XM_017020655.1:c.2032G>A, XM_024449379.2:c.1996G>T, XM_024449379.2:c.1996G>A, XM_024449379.1:c.1996G>T, XM_024449379.1:c.1996G>A, NM_001278481.2:c.2071G>T, NM_001278481.2:c.2071G>A, NM_001278481.1:c.2071G>T, NM_001278481.1:c.2071G>A, XM_017020658.2:c.2035G>T, XM_017020658.2:c.2035G>A, XM_017020658.1:c.2035G>T, XM_017020658.1:c.2035G>A, XM_017020659.2:c.2032G>T, XM_017020659.2:c.2032G>A, XM_017020659.1:c.2032G>T, XM_017020659.1:c.2032G>A, XM_017020661.2:c.1996G>T, XM_017020661.2:c.1996G>A, XM_017020661.1:c.1996G>T, XM_017020661.1:c.1996G>A, XM_047430444.1:c.2305G>T, XM_047430444.1:c.2305G>A, XM_047430448.1:c.2233G>T, XM_047430448.1:c.2233G>A, XM_047430449.1:c.2305G>T, XM_047430449.1:c.2305G>A, XM_047430445.1:c.2236G>T, XM_047430445.1:c.2236G>A, XM_047430447.1:c.2233G>T, XM_047430447.1:c.2233G>A, XM_047430450.1:c.2272G>T, XM_047430450.1:c.2272G>A, XM_047430452.1:c.2269G>T, XM_047430452.1:c.2269G>A, XM_047430451.1:c.2269G>T, XM_047430451.1:c.2269G>A, XM_047430456.1:c.2071G>T, XM_047430456.1:c.2071G>A, XM_047430457.1:c.2068G>T, XM_047430457.1:c.2068G>A, XM_047430453.1:c.2236G>T, XM_047430453.1:c.2236G>A, XM_047430454.1:c.2233G>T, XM_047430454.1:c.2233G>A, XM_047430458.1:c.2035G>T, XM_047430458.1:c.2035G>A, XM_047430459.1:c.2032G>T, XM_047430459.1:c.2032G>A, XM_047430462.1:c.2068G>T, XM_047430462.1:c.2068G>A, XM_047430463.1:c.2032G>T, XM_047430463.1:c.2032G>A, XM_047430460.1:c.1999G>T, XM_047430460.1:c.1999G>A, XM_047430464.1:c.1999G>T, XM_047430464.1:c.1999G>A, XP_005266506.1:p.Val770Leu, XP_005266506.1:p.Val770Ile, XP_005266513.1:p.Val758Leu, XP_005266513.1:p.Val758Ile, XP_005266515.1:p.Val757Leu, XP_005266515.1:p.Val757Ile, XP_005266508.1:p.Val769Leu, XP_005266508.1:p.Val769Ile, XP_005266511.1:p.Val758Leu, XP_005266511.1:p.Val758Ile, XP_005266514.1:p.Val757Leu, XP_005266514.1:p.Val757Ile, XP_005266519.1:p.Val691Leu, XP_005266519.1:p.Val691Ile, XP_005266518.1:p.Val758Leu, XP_005266518.1:p.Val758Ile, NP_060039.1:p.Val691Leu, NP_060039.1:p.Val691Ile, XP_005266521.1:p.Val679Leu, XP_005266521.1:p.Val679Ile, XP_005266522.1:p.Val690Leu, XP_005266522.1:p.Val690Ile, XP_005266524.1:p.Val679Leu, XP_005266524.1:p.Val679Ile, XP_005266504.1:p.Val770Leu, XP_005266504.1:p.Val770Ile, XP_005266512.1:p.Val758Leu, XP_005266512.1:p.Val758Ile, XP_016876142.1:p.Val757Leu, XP_016876142.1:p.Val757Ile, XP_005266517.1:p.Val770Leu, XP_005266517.1:p.Val770Ile, NP_001014308.2:p.Val690Leu, NP_001014308.2:p.Val690Ile, XP_016876146.1:p.Val678Leu, XP_016876146.1:p.Val678Ile, XP_016876149.1:p.Val678Leu, XP_016876149.1:p.Val678Ile, NP_001265411.1:p.Val691Leu, NP_001265411.1:p.Val691Ile, NP_001265409.1:p.Val769Leu, NP_001265409.1:p.Val769Ile, XP_016876143.1:p.Val679Leu, XP_016876143.1:p.Val679Ile, XP_016876144.1:p.Val678Leu, XP_016876144.1:p.Val678Ile, XP_024305147.1:p.Val666Leu, XP_024305147.1:p.Val666Ile, NP_001265410.1:p.Val691Leu, NP_001265410.1:p.Val691Ile, XP_016876147.1:p.Val679Leu, XP_016876147.1:p.Val679Ile, XP_016876148.1:p.Val678Leu, XP_016876148.1:p.Val678Ile, XP_016876150.1:p.Val666Leu, XP_016876150.1:p.Val666Ile, XP_047286400.1:p.Val769Leu, XP_047286400.1:p.Val769Ile, XP_047286404.1:p.Val745Leu, XP_047286404.1:p.Val745Ile, XP_047286405.1:p.Val769Leu, XP_047286405.1:p.Val769Ile, XP_047286401.1:p.Val746Leu, XP_047286401.1:p.Val746Ile, XP_047286403.1:p.Val745Leu, XP_047286403.1:p.Val745Ile, XP_047286406.1:p.Val758Leu, XP_047286406.1:p.Val758Ile, XP_047286408.1:p.Val757Leu, XP_047286408.1:p.Val757Ile, XP_047286407.1:p.Val757Leu, XP_047286407.1:p.Val757Ile, XP_047286412.1:p.Val691Leu, XP_047286412.1:p.Val691Ile, XP_047286413.1:p.Val690Leu, XP_047286413.1:p.Val690Ile, XP_047286409.1:p.Val746Leu, XP_047286409.1:p.Val746Ile, XP_047286410.1:p.Val745Leu, XP_047286410.1:p.Val745Ile, XP_047286414.1:p.Val679Leu, XP_047286414.1:p.Val679Ile, XP_047286415.1:p.Val678Leu, XP_047286415.1:p.Val678Ile, XP_047286418.1:p.Val690Leu, XP_047286418.1:p.Val690Ile, XP_047286419.1:p.Val678Leu, XP_047286419.1:p.Val678Ile, XP_047286416.1:p.Val667Leu, XP_047286416.1:p.Val667Ile, XP_047286420.1:p.Val667Leu, XP_047286420.1:p.Val667Ile

                8.

                rs1482376346 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  13:37021592 (GRCh38)
                  13:37595729 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:37021591:C:A
                  Gene:
                  SUPT20H (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000013.11:g.37021592C>A, NC_000013.10:g.37595729C>A, XM_005266449.5:c.1912G>T, XM_005266449.4:c.1912G>T, XM_005266449.3:c.1912G>T, XM_005266449.2:c.1912G>T, XM_005266449.1:c.1912G>T, XM_005266456.5:c.1876G>T, XM_005266456.4:c.1876G>T, XM_005266456.3:c.1876G>T, XM_005266456.2:c.1876G>T, XM_005266456.1:c.1876G>T, XM_005266458.5:c.1873G>T, XM_005266458.4:c.1873G>T, XM_005266458.3:c.1873G>T, XM_005266458.2:c.1873G>T, XM_005266458.1:c.1873G>T, XM_005266451.5:c.1909G>T, XM_005266451.4:c.1909G>T, XM_005266451.3:c.1909G>T, XM_005266451.2:c.1909G>T, XM_005266451.1:c.1909G>T, XM_005266454.5:c.1876G>T, XM_005266454.4:c.1876G>T, XM_005266454.3:c.1876G>T, XM_005266454.2:c.1876G>T, XM_005266454.1:c.1876G>T, XM_005266457.5:c.1873G>T, XM_005266457.4:c.1873G>T, XM_005266457.3:c.1873G>T, XM_005266457.2:c.1873G>T, XM_005266457.1:c.1873G>T, XM_005266462.5:c.1675G>T, XM_005266462.4:c.1675G>T, XM_005266462.3:c.1675G>T, XM_005266462.2:c.1675G>T, XM_005266462.1:c.1675G>T, XM_005266461.4:c.1912G>T, XM_005266461.3:c.1912G>T, XM_005266461.2:c.1912G>T, XM_005266461.1:c.1912G>T, NM_017569.4:c.1675G>T, NM_017569.3:c.1675G>T, XM_005266464.4:c.1675G>T, XM_005266464.3:c.1675G>T, XM_005266464.2:c.1675G>T, XM_005266464.1:c.1675G>T, XM_005266465.4:c.1672G>T, XM_005266465.3:c.1672G>T, XM_005266465.2:c.1672G>T, XM_005266465.1:c.1672G>T, XM_005266467.4:c.1675G>T, XM_005266467.3:c.1675G>T, XM_005266467.2:c.1675G>T, XM_005266467.1:c.1675G>T, XM_005266447.3:c.1912G>T, XM_005266447.2:c.1912G>T, XM_005266447.1:c.1912G>T, XM_005266455.3:c.1912G>T, XM_005266455.2:c.1912G>T, XM_005266455.1:c.1912G>T, XM_017020653.3:c.1909G>T, XM_017020653.2:c.1909G>T, XM_017020653.1:c.1909G>T, XM_005266460.3:c.1912G>T, XM_005266460.2:c.1912G>T, XM_005266460.1:c.1912G>T, NM_001014286.3:c.1672G>T, NM_001014286.2:c.1672G>T, XM_017020657.3:c.1672G>T, XM_017020657.2:c.1672G>T, XM_017020657.1:c.1672G>T, XM_017020660.3:c.1672G>T, XM_017020660.2:c.1672G>T, XM_017020660.1:c.1672G>T, NM_001278482.2:c.1675G>T, NM_001278482.1:c.1675G>T, NM_001278480.2:c.1909G>T, NM_001278480.1:c.1909G>T, XM_017020654.2:c.1639G>T, XM_017020654.1:c.1639G>T, XM_017020655.2:c.1636G>T, XM_017020655.1:c.1636G>T, XM_024449379.2:c.1636G>T, XM_024449379.1:c.1636G>T, NM_001278481.2:c.1675G>T, NM_001278481.1:c.1675G>T, XM_017020658.2:c.1639G>T, XM_017020658.1:c.1639G>T, XM_017020659.2:c.1636G>T, XM_017020659.1:c.1636G>T, XM_017020661.2:c.1636G>T, XM_017020661.1:c.1636G>T, XM_047430444.1:c.1909G>T, XM_047430448.1:c.1873G>T, XM_047430449.1:c.1909G>T, XM_047430445.1:c.1876G>T, XM_047430447.1:c.1873G>T, XM_047430450.1:c.1876G>T, XM_047430452.1:c.1909G>T, XM_047430451.1:c.1873G>T, XM_047430456.1:c.1675G>T, XM_047430457.1:c.1672G>T, XM_047430453.1:c.1876G>T, XM_047430454.1:c.1873G>T, XM_047430458.1:c.1639G>T, XM_047430459.1:c.1672G>T, XM_047430462.1:c.1672G>T, XM_047430463.1:c.1672G>T, XM_047430460.1:c.1639G>T, XM_047430464.1:c.1639G>T, XP_005266506.1:p.Ala638Ser, XP_005266513.1:p.Ala626Ser, XP_005266515.1:p.Ala625Ser, XP_005266508.1:p.Ala637Ser, XP_005266511.1:p.Ala626Ser, XP_005266514.1:p.Ala625Ser, XP_005266519.1:p.Ala559Ser, XP_005266518.1:p.Ala638Ser, NP_060039.1:p.Ala559Ser, XP_005266521.1:p.Ala559Ser, XP_005266522.1:p.Ala558Ser, XP_005266524.1:p.Ala559Ser, XP_005266504.1:p.Ala638Ser, XP_005266512.1:p.Ala638Ser, XP_016876142.1:p.Ala637Ser, XP_005266517.1:p.Ala638Ser, NP_001014308.2:p.Ala558Ser, XP_016876146.1:p.Ala558Ser, XP_016876149.1:p.Ala558Ser, NP_001265411.1:p.Ala559Ser, NP_001265409.1:p.Ala637Ser, XP_016876143.1:p.Ala547Ser, XP_016876144.1:p.Ala546Ser, XP_024305147.1:p.Ala546Ser, NP_001265410.1:p.Ala559Ser, XP_016876147.1:p.Ala547Ser, XP_016876148.1:p.Ala546Ser, XP_016876150.1:p.Ala546Ser, XP_047286400.1:p.Ala637Ser, XP_047286404.1:p.Ala625Ser, XP_047286405.1:p.Ala637Ser, XP_047286401.1:p.Ala626Ser, XP_047286403.1:p.Ala625Ser, XP_047286406.1:p.Ala626Ser, XP_047286408.1:p.Ala637Ser, XP_047286407.1:p.Ala625Ser, XP_047286412.1:p.Ala559Ser, XP_047286413.1:p.Ala558Ser, XP_047286409.1:p.Ala626Ser, XP_047286410.1:p.Ala625Ser, XP_047286414.1:p.Ala547Ser, XP_047286415.1:p.Ala558Ser, XP_047286418.1:p.Ala558Ser, XP_047286419.1:p.Ala558Ser, XP_047286416.1:p.Ala547Ser, XP_047286420.1:p.Ala547Ser

                  9.

                  rs1481788958 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    13:37009756 (GRCh38)
                    13:37583893 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:37009755:T:C
                    Gene:
                    EXOSC8 (Varview), SUPT20H (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000013.11:g.37009756T>C, NC_000013.10:g.37583893T>C, NG_042275.1:g.14216T>C, XM_005266449.5:c.2496A>G, XM_005266449.4:c.2496A>G, XM_005266449.3:c.2496A>G, XM_005266449.2:c.2496A>G, XM_005266449.1:c.2496A>G, XM_005266456.5:c.2460A>G, XM_005266456.4:c.2460A>G, XM_005266456.3:c.2460A>G, XM_005266456.2:c.2460A>G, XM_005266456.1:c.2460A>G, XM_005266458.5:c.2457A>G, XM_005266458.4:c.2457A>G, XM_005266458.3:c.2457A>G, XM_005266458.2:c.2457A>G, XM_005266458.1:c.2457A>G, XM_005266451.5:c.2493A>G, XM_005266451.4:c.2493A>G, XM_005266451.3:c.2493A>G, XM_005266451.2:c.2493A>G, XM_005266451.1:c.2493A>G, XM_005266454.5:c.2460A>G, XM_005266454.4:c.2460A>G, XM_005266454.3:c.2460A>G, XM_005266454.2:c.2460A>G, XM_005266454.1:c.2460A>G, XM_005266457.5:c.2457A>G, XM_005266457.4:c.2457A>G, XM_005266457.3:c.2457A>G, XM_005266457.2:c.2457A>G, XM_005266457.1:c.2457A>G, XM_005266462.5:c.2259A>G, XM_005266462.4:c.2259A>G, XM_005266462.3:c.2259A>G, XM_005266462.2:c.2259A>G, XM_005266462.1:c.2259A>G, XM_005266461.4:c.2356A>G, XM_005266461.3:c.2356A>G, XM_005266461.2:c.2356A>G, XM_005266461.1:c.2356A>G, NM_017569.4:c.2155A>G, NM_017569.3:c.2155A>G, XM_005266464.4:c.2223A>G, XM_005266464.3:c.2223A>G, XM_005266464.2:c.2223A>G, XM_005266464.1:c.2223A>G, XM_005266465.4:c.2152A>G, XM_005266465.3:c.2152A>G, XM_005266465.2:c.2152A>G, XM_005266465.1:c.2152A>G, XM_005266467.4:c.2119A>G, XM_005266467.3:c.2119A>G, XM_005266467.2:c.2119A>G, XM_005266467.1:c.2119A>G, XM_005266447.3:c.2496A>G, XM_005266447.2:c.2496A>G, XM_005266447.1:c.2496A>G, XM_005266455.3:c.2460A>G, XM_005266455.2:c.2460A>G, XM_005266455.1:c.2460A>G, XM_017020653.3:c.2457A>G, XM_017020653.2:c.2457A>G, XM_017020653.1:c.2457A>G, XM_005266460.3:c.2392A>G, XM_005266460.2:c.2392A>G, XM_005266460.1:c.2392A>G, NM_001014286.3:c.2256A>G, NM_001014286.2:c.2256A>G, XM_017020657.3:c.2220A>G, XM_017020657.2:c.2220A>G, XM_017020657.1:c.2220A>G, XM_017020660.3:c.2116A>G, XM_017020660.2:c.2116A>G, XM_017020660.1:c.2116A>G, NM_001278482.2:c.2155A>G, NM_001278482.1:c.2155A>G, NM_001278480.2:c.2389A>G, NM_001278480.1:c.2389A>G, XM_017020654.2:c.2223A>G, XM_017020654.1:c.2223A>G, XM_017020655.2:c.2220A>G, XM_017020655.1:c.2220A>G, XM_024449379.2:c.2184A>G, XM_024449379.1:c.2184A>G, NM_001278481.2:c.2155A>G, NM_001278481.1:c.2155A>G, XM_017020658.2:c.2119A>G, XM_017020658.1:c.2119A>G, XM_017020659.2:c.2116A>G, XM_017020659.1:c.2116A>G, XM_017020661.2:c.2080A>G, XM_017020661.1:c.2080A>G, XM_047430444.1:c.2493A>G, XM_047430448.1:c.2421A>G, XM_047430449.1:c.2389A>G, XM_047430445.1:c.2424A>G, XM_047430447.1:c.2421A>G, XM_047430450.1:c.2356A>G, XM_047430452.1:c.2353A>G, XM_047430451.1:c.2353A>G, XM_047430456.1:c.2259A>G, XM_047430457.1:c.2256A>G, XM_047430453.1:c.2320A>G, XM_047430454.1:c.2317A>G, XM_047430458.1:c.2223A>G, XM_047430459.1:c.2220A>G, XM_047430462.1:c.2152A>G, XM_047430463.1:c.2116A>G, XM_047430460.1:c.2187A>G, XM_047430464.1:c.2083A>G, XP_005266518.1:p.Ser786Gly, NP_060039.1:p.Ser719Gly, XP_005266522.1:p.Ser718Gly, XP_005266524.1:p.Ser707Gly, XP_005266517.1:p.Ser798Gly, XP_016876149.1:p.Ser706Gly, NP_001265411.1:p.Ser719Gly, NP_001265409.1:p.Ser797Gly, NP_001265410.1:p.Ser719Gly, XP_016876147.1:p.Ser707Gly, XP_016876148.1:p.Ser706Gly, XP_016876150.1:p.Ser694Gly, XP_047286405.1:p.Ser797Gly, XP_047286406.1:p.Ser786Gly, XP_047286408.1:p.Ser785Gly, XP_047286407.1:p.Ser785Gly, XP_047286409.1:p.Ser774Gly, XP_047286410.1:p.Ser773Gly, XP_047286418.1:p.Ser718Gly, XP_047286419.1:p.Ser706Gly, XP_047286420.1:p.Ser695Gly

                    10.

                    rs1480582490 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      13:37024355 (GRCh38)
                      13:37598492 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:37024354:C:G
                      Gene:
                      SUPT20H (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000013.11:g.37024355C>G, NC_000013.10:g.37598492C>G, XM_005266449.5:c.1420G>C, XM_005266449.4:c.1420G>C, XM_005266449.3:c.1420G>C, XM_005266449.2:c.1420G>C, XM_005266449.1:c.1420G>C, XM_005266456.5:c.1384G>C, XM_005266456.4:c.1384G>C, XM_005266456.3:c.1384G>C, XM_005266456.2:c.1384G>C, XM_005266456.1:c.1384G>C, XM_005266458.5:c.1381G>C, XM_005266458.4:c.1381G>C, XM_005266458.3:c.1381G>C, XM_005266458.2:c.1381G>C, XM_005266458.1:c.1381G>C, XM_005266451.5:c.1417G>C, XM_005266451.4:c.1417G>C, XM_005266451.3:c.1417G>C, XM_005266451.2:c.1417G>C, XM_005266451.1:c.1417G>C, XM_005266454.5:c.1384G>C, XM_005266454.4:c.1384G>C, XM_005266454.3:c.1384G>C, XM_005266454.2:c.1384G>C, XM_005266454.1:c.1384G>C, XM_005266457.5:c.1381G>C, XM_005266457.4:c.1381G>C, XM_005266457.3:c.1381G>C, XM_005266457.2:c.1381G>C, XM_005266457.1:c.1381G>C, XM_005266462.5:c.1420G>C, XM_005266462.4:c.1420G>C, XM_005266462.3:c.1420G>C, XM_005266462.2:c.1420G>C, XM_005266462.1:c.1420G>C, XM_005266461.4:c.1420G>C, XM_005266461.3:c.1420G>C, XM_005266461.2:c.1420G>C, XM_005266461.1:c.1420G>C, NM_017569.4:c.1420G>C, NM_017569.3:c.1420G>C, XM_005266464.4:c.1420G>C, XM_005266464.3:c.1420G>C, XM_005266464.2:c.1420G>C, XM_005266464.1:c.1420G>C, XM_005266465.4:c.1417G>C, XM_005266465.3:c.1417G>C, XM_005266465.2:c.1417G>C, XM_005266465.1:c.1417G>C, XM_005266467.4:c.1420G>C, XM_005266467.3:c.1420G>C, XM_005266467.2:c.1420G>C, XM_005266467.1:c.1420G>C, XM_005266447.3:c.1420G>C, XM_005266447.2:c.1420G>C, XM_005266447.1:c.1420G>C, XM_005266455.3:c.1420G>C, XM_005266455.2:c.1420G>C, XM_005266455.1:c.1420G>C, XM_017020653.3:c.1417G>C, XM_017020653.2:c.1417G>C, XM_017020653.1:c.1417G>C, XM_005266460.3:c.1420G>C, XM_005266460.2:c.1420G>C, XM_005266460.1:c.1420G>C, NM_001014286.3:c.1417G>C, NM_001014286.2:c.1417G>C, XM_017020657.3:c.1417G>C, XM_017020657.2:c.1417G>C, XM_017020657.1:c.1417G>C, XM_017020660.3:c.1417G>C, XM_017020660.2:c.1417G>C, XM_017020660.1:c.1417G>C, NM_001278482.2:c.1420G>C, NM_001278482.1:c.1420G>C, NM_001278480.2:c.1417G>C, NM_001278480.1:c.1417G>C, XM_017020654.2:c.1384G>C, XM_017020654.1:c.1384G>C, XM_017020655.2:c.1381G>C, XM_017020655.1:c.1381G>C, XM_024449379.2:c.1381G>C, XM_024449379.1:c.1381G>C, NM_001278481.2:c.1420G>C, NM_001278481.1:c.1420G>C, XM_017020658.2:c.1384G>C, XM_017020658.1:c.1384G>C, XM_017020659.2:c.1381G>C, XM_017020659.1:c.1381G>C, XM_017020661.2:c.1381G>C, XM_017020661.1:c.1381G>C, XM_047430444.1:c.1417G>C, XM_047430448.1:c.1381G>C, XM_047430449.1:c.1417G>C, XM_047430445.1:c.1384G>C, XM_047430447.1:c.1381G>C, XM_047430450.1:c.1384G>C, XM_047430452.1:c.1417G>C, XM_047430451.1:c.1381G>C, XM_047430456.1:c.1420G>C, XM_047430457.1:c.1417G>C, XM_047430453.1:c.1384G>C, XM_047430454.1:c.1381G>C, XM_047430458.1:c.1384G>C, XM_047430459.1:c.1417G>C, XM_047430462.1:c.1417G>C, XM_047430463.1:c.1417G>C, XM_047430460.1:c.1384G>C, XM_047430464.1:c.1384G>C, XM_047430465.1:c.1420G>C, XM_047430466.1:c.1417G>C, XM_047430467.1:c.1384G>C, XM_047430468.1:c.1381G>C, XM_047430469.1:c.*39G>C, XM_047430470.1:c.*39G>C, XP_005266506.1:p.Gly474Arg, XP_005266513.1:p.Gly462Arg, XP_005266515.1:p.Gly461Arg, XP_005266508.1:p.Gly473Arg, XP_005266511.1:p.Gly462Arg, XP_005266514.1:p.Gly461Arg, XP_005266519.1:p.Gly474Arg, XP_005266518.1:p.Gly474Arg, NP_060039.1:p.Gly474Arg, XP_005266521.1:p.Gly474Arg, XP_005266522.1:p.Gly473Arg, XP_005266524.1:p.Gly474Arg, XP_005266504.1:p.Gly474Arg, XP_005266512.1:p.Gly474Arg, XP_016876142.1:p.Gly473Arg, XP_005266517.1:p.Gly474Arg, NP_001014308.2:p.Gly473Arg, XP_016876146.1:p.Gly473Arg, XP_016876149.1:p.Gly473Arg, NP_001265411.1:p.Gly474Arg, NP_001265409.1:p.Gly473Arg, XP_016876143.1:p.Gly462Arg, XP_016876144.1:p.Gly461Arg, XP_024305147.1:p.Gly461Arg, NP_001265410.1:p.Gly474Arg, XP_016876147.1:p.Gly462Arg, XP_016876148.1:p.Gly461Arg, XP_016876150.1:p.Gly461Arg, XP_047286400.1:p.Gly473Arg, XP_047286404.1:p.Gly461Arg, XP_047286405.1:p.Gly473Arg, XP_047286401.1:p.Gly462Arg, XP_047286403.1:p.Gly461Arg, XP_047286406.1:p.Gly462Arg, XP_047286408.1:p.Gly473Arg, XP_047286407.1:p.Gly461Arg, XP_047286412.1:p.Gly474Arg, XP_047286413.1:p.Gly473Arg, XP_047286409.1:p.Gly462Arg, XP_047286410.1:p.Gly461Arg, XP_047286414.1:p.Gly462Arg, XP_047286415.1:p.Gly473Arg, XP_047286418.1:p.Gly473Arg, XP_047286419.1:p.Gly473Arg, XP_047286416.1:p.Gly462Arg, XP_047286420.1:p.Gly462Arg, XP_047286421.1:p.Gly474Arg, XP_047286422.1:p.Gly473Arg, XP_047286423.1:p.Gly462Arg, XP_047286424.1:p.Gly461Arg

                      11.

                      rs1478388073 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        13:37045310 (GRCh38)
                        13:37619447 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:37045309:C:G,NC_000013.11:37045309:C:T
                        Gene:
                        SUPT20H (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000013.11:g.37045310C>G, NC_000013.11:g.37045310C>T, NC_000013.10:g.37619447C>G, NC_000013.10:g.37619447C>T, XM_005266449.5:c.232G>C, XM_005266449.5:c.232G>A, XM_005266449.4:c.232G>C, XM_005266449.4:c.232G>A, XM_005266449.3:c.232G>C, XM_005266449.3:c.232G>A, XM_005266449.2:c.232G>C, XM_005266449.2:c.232G>A, XM_005266449.1:c.232G>C, XM_005266449.1:c.232G>A, XM_005266456.5:c.196G>C, XM_005266456.5:c.196G>A, XM_005266456.4:c.196G>C, XM_005266456.4:c.196G>A, XM_005266456.3:c.196G>C, XM_005266456.3:c.196G>A, XM_005266456.2:c.196G>C, XM_005266456.2:c.196G>A, XM_005266456.1:c.196G>C, XM_005266456.1:c.196G>A, XM_005266458.5:c.193G>C, XM_005266458.5:c.193G>A, XM_005266458.4:c.193G>C, XM_005266458.4:c.193G>A, XM_005266458.3:c.193G>C, XM_005266458.3:c.193G>A, XM_005266458.2:c.193G>C, XM_005266458.2:c.193G>A, XM_005266458.1:c.193G>C, XM_005266458.1:c.193G>A, XM_005266451.5:c.229G>C, XM_005266451.5:c.229G>A, XM_005266451.4:c.229G>C, XM_005266451.4:c.229G>A, XM_005266451.3:c.229G>C, XM_005266451.3:c.229G>A, XM_005266451.2:c.229G>C, XM_005266451.2:c.229G>A, XM_005266451.1:c.229G>C, XM_005266451.1:c.229G>A, XM_005266454.5:c.196G>C, XM_005266454.5:c.196G>A, XM_005266454.4:c.196G>C, XM_005266454.4:c.196G>A, XM_005266454.3:c.196G>C, XM_005266454.3:c.196G>A, XM_005266454.2:c.196G>C, XM_005266454.2:c.196G>A, XM_005266454.1:c.196G>C, XM_005266454.1:c.196G>A, XM_005266457.5:c.193G>C, XM_005266457.5:c.193G>A, XM_005266457.4:c.193G>C, XM_005266457.4:c.193G>A, XM_005266457.3:c.193G>C, XM_005266457.3:c.193G>A, XM_005266457.2:c.193G>C, XM_005266457.2:c.193G>A, XM_005266457.1:c.193G>C, XM_005266457.1:c.193G>A, XM_005266462.5:c.232G>C, XM_005266462.5:c.232G>A, XM_005266462.4:c.232G>C, XM_005266462.4:c.232G>A, XM_005266462.3:c.232G>C, XM_005266462.3:c.232G>A, XM_005266462.2:c.232G>C, XM_005266462.2:c.232G>A, XM_005266462.1:c.232G>C, XM_005266462.1:c.232G>A, XM_005266461.4:c.232G>C, XM_005266461.4:c.232G>A, XM_005266461.3:c.232G>C, XM_005266461.3:c.232G>A, XM_005266461.2:c.232G>C, XM_005266461.2:c.232G>A, XM_005266461.1:c.232G>C, XM_005266461.1:c.232G>A, NM_017569.4:c.232G>C, NM_017569.4:c.232G>A, NM_017569.3:c.232G>C, NM_017569.3:c.232G>A, XM_005266464.4:c.232G>C, XM_005266464.4:c.232G>A, XM_005266464.3:c.232G>C, XM_005266464.3:c.232G>A, XM_005266464.2:c.232G>C, XM_005266464.2:c.232G>A, XM_005266464.1:c.232G>C, XM_005266464.1:c.232G>A, XM_005266465.4:c.229G>C, XM_005266465.4:c.229G>A, XM_005266465.3:c.229G>C, XM_005266465.3:c.229G>A, XM_005266465.2:c.229G>C, XM_005266465.2:c.229G>A, XM_005266465.1:c.229G>C, XM_005266465.1:c.229G>A, XM_005266467.4:c.232G>C, XM_005266467.4:c.232G>A, XM_005266467.3:c.232G>C, XM_005266467.3:c.232G>A, XM_005266467.2:c.232G>C, XM_005266467.2:c.232G>A, XM_005266467.1:c.232G>C, XM_005266467.1:c.232G>A, XM_005266447.3:c.232G>C, XM_005266447.3:c.232G>A, XM_005266447.2:c.232G>C, XM_005266447.2:c.232G>A, XM_005266447.1:c.232G>C, XM_005266447.1:c.232G>A, XM_005266455.3:c.232G>C, XM_005266455.3:c.232G>A, XM_005266455.2:c.232G>C, XM_005266455.2:c.232G>A, XM_005266455.1:c.232G>C, XM_005266455.1:c.232G>A, XM_017020653.3:c.229G>C, XM_017020653.3:c.229G>A, XM_017020653.2:c.229G>C, XM_017020653.2:c.229G>A, XM_017020653.1:c.229G>C, XM_017020653.1:c.229G>A, XM_005266460.3:c.232G>C, XM_005266460.3:c.232G>A, XM_005266460.2:c.232G>C, XM_005266460.2:c.232G>A, XM_005266460.1:c.232G>C, XM_005266460.1:c.232G>A, NM_001014286.3:c.229G>C, NM_001014286.3:c.229G>A, NM_001014286.2:c.229G>C, NM_001014286.2:c.229G>A, XM_017020657.3:c.229G>C, XM_017020657.3:c.229G>A, XM_017020657.2:c.229G>C, XM_017020657.2:c.229G>A, XM_017020657.1:c.229G>C, XM_017020657.1:c.229G>A, XM_017020660.3:c.229G>C, XM_017020660.3:c.229G>A, XM_017020660.2:c.229G>C, XM_017020660.2:c.229G>A, XM_017020660.1:c.229G>C, XM_017020660.1:c.229G>A, NM_001278482.2:c.232G>C, NM_001278482.2:c.232G>A, NM_001278482.1:c.232G>C, NM_001278482.1:c.232G>A, NM_001278480.2:c.229G>C, NM_001278480.2:c.229G>A, NM_001278480.1:c.229G>C, NM_001278480.1:c.229G>A, XM_017020654.2:c.196G>C, XM_017020654.2:c.196G>A, XM_017020654.1:c.196G>C, XM_017020654.1:c.196G>A, XM_017020655.2:c.193G>C, XM_017020655.2:c.193G>A, XM_017020655.1:c.193G>C, XM_017020655.1:c.193G>A, XM_024449379.2:c.193G>C, XM_024449379.2:c.193G>A, XM_024449379.1:c.193G>C, XM_024449379.1:c.193G>A, NM_001278481.2:c.232G>C, NM_001278481.2:c.232G>A, NM_001278481.1:c.232G>C, NM_001278481.1:c.232G>A, XM_017020658.2:c.196G>C, XM_017020658.2:c.196G>A, XM_017020658.1:c.196G>C, XM_017020658.1:c.196G>A, XM_017020659.2:c.193G>C, XM_017020659.2:c.193G>A, XM_017020659.1:c.193G>C, XM_017020659.1:c.193G>A, XM_017020661.2:c.193G>C, XM_017020661.2:c.193G>A, XM_017020661.1:c.193G>C, XM_017020661.1:c.193G>A, XM_047430444.1:c.229G>C, XM_047430444.1:c.229G>A, XM_047430448.1:c.193G>C, XM_047430448.1:c.193G>A, XM_047430449.1:c.229G>C, XM_047430449.1:c.229G>A, XM_047430445.1:c.196G>C, XM_047430445.1:c.196G>A, XM_047430447.1:c.193G>C, XM_047430447.1:c.193G>A, XM_047430450.1:c.196G>C, XM_047430450.1:c.196G>A, XM_047430452.1:c.229G>C, XM_047430452.1:c.229G>A, XM_047430451.1:c.193G>C, XM_047430451.1:c.193G>A, XM_047430456.1:c.232G>C, XM_047430456.1:c.232G>A, XM_047430457.1:c.229G>C, XM_047430457.1:c.229G>A, XM_047430453.1:c.196G>C, XM_047430453.1:c.196G>A, XM_047430454.1:c.193G>C, XM_047430454.1:c.193G>A, XM_047430458.1:c.196G>C, XM_047430458.1:c.196G>A, XM_047430459.1:c.229G>C, XM_047430459.1:c.229G>A, XM_047430462.1:c.229G>C, XM_047430462.1:c.229G>A, XM_047430463.1:c.229G>C, XM_047430463.1:c.229G>A, XM_047430460.1:c.196G>C, XM_047430460.1:c.196G>A, XM_047430464.1:c.196G>C, XM_047430464.1:c.196G>A, XM_047430465.1:c.232G>C, XM_047430465.1:c.232G>A, XM_047430466.1:c.229G>C, XM_047430466.1:c.229G>A, XM_047430467.1:c.196G>C, XM_047430467.1:c.196G>A, XM_047430468.1:c.193G>C, XM_047430468.1:c.193G>A, XM_047430469.1:c.232G>C, XM_047430469.1:c.232G>A, XM_047430470.1:c.193G>C, XM_047430470.1:c.193G>A, XP_005266506.1:p.Val78Leu, XP_005266506.1:p.Val78Met, XP_005266513.1:p.Val66Leu, XP_005266513.1:p.Val66Met, XP_005266515.1:p.Val65Leu, XP_005266515.1:p.Val65Met, XP_005266508.1:p.Val77Leu, XP_005266508.1:p.Val77Met, XP_005266511.1:p.Val66Leu, XP_005266511.1:p.Val66Met, XP_005266514.1:p.Val65Leu, XP_005266514.1:p.Val65Met, XP_005266519.1:p.Val78Leu, XP_005266519.1:p.Val78Met, XP_005266518.1:p.Val78Leu, XP_005266518.1:p.Val78Met, NP_060039.1:p.Val78Leu, NP_060039.1:p.Val78Met, XP_005266521.1:p.Val78Leu, XP_005266521.1:p.Val78Met, XP_005266522.1:p.Val77Leu, XP_005266522.1:p.Val77Met, XP_005266524.1:p.Val78Leu, XP_005266524.1:p.Val78Met, XP_005266504.1:p.Val78Leu, XP_005266504.1:p.Val78Met, XP_005266512.1:p.Val78Leu, XP_005266512.1:p.Val78Met, XP_016876142.1:p.Val77Leu, XP_016876142.1:p.Val77Met, XP_005266517.1:p.Val78Leu, XP_005266517.1:p.Val78Met, NP_001014308.2:p.Val77Leu, NP_001014308.2:p.Val77Met, XP_016876146.1:p.Val77Leu, XP_016876146.1:p.Val77Met, XP_016876149.1:p.Val77Leu, XP_016876149.1:p.Val77Met, NP_001265411.1:p.Val78Leu, NP_001265411.1:p.Val78Met, NP_001265409.1:p.Val77Leu, NP_001265409.1:p.Val77Met, XP_016876143.1:p.Val66Leu, XP_016876143.1:p.Val66Met, XP_016876144.1:p.Val65Leu, XP_016876144.1:p.Val65Met, XP_024305147.1:p.Val65Leu, XP_024305147.1:p.Val65Met, NP_001265410.1:p.Val78Leu, NP_001265410.1:p.Val78Met, XP_016876147.1:p.Val66Leu, XP_016876147.1:p.Val66Met, XP_016876148.1:p.Val65Leu, XP_016876148.1:p.Val65Met, XP_016876150.1:p.Val65Leu, XP_016876150.1:p.Val65Met, XP_047286400.1:p.Val77Leu, XP_047286400.1:p.Val77Met, XP_047286404.1:p.Val65Leu, XP_047286404.1:p.Val65Met, XP_047286405.1:p.Val77Leu, XP_047286405.1:p.Val77Met, XP_047286401.1:p.Val66Leu, XP_047286401.1:p.Val66Met, XP_047286403.1:p.Val65Leu, XP_047286403.1:p.Val65Met, XP_047286406.1:p.Val66Leu, XP_047286406.1:p.Val66Met, XP_047286408.1:p.Val77Leu, XP_047286408.1:p.Val77Met, XP_047286407.1:p.Val65Leu, XP_047286407.1:p.Val65Met, XP_047286412.1:p.Val78Leu, XP_047286412.1:p.Val78Met, XP_047286413.1:p.Val77Leu, XP_047286413.1:p.Val77Met, XP_047286409.1:p.Val66Leu, XP_047286409.1:p.Val66Met, XP_047286410.1:p.Val65Leu, XP_047286410.1:p.Val65Met, XP_047286414.1:p.Val66Leu, XP_047286414.1:p.Val66Met, XP_047286415.1:p.Val77Leu, XP_047286415.1:p.Val77Met, XP_047286418.1:p.Val77Leu, XP_047286418.1:p.Val77Met, XP_047286419.1:p.Val77Leu, XP_047286419.1:p.Val77Met, XP_047286416.1:p.Val66Leu, XP_047286416.1:p.Val66Met, XP_047286420.1:p.Val66Leu, XP_047286420.1:p.Val66Met, XP_047286421.1:p.Val78Leu, XP_047286421.1:p.Val78Met, XP_047286422.1:p.Val77Leu, XP_047286422.1:p.Val77Met, XP_047286423.1:p.Val66Leu, XP_047286423.1:p.Val66Met, XP_047286424.1:p.Val65Leu, XP_047286424.1:p.Val65Met, XP_047286425.1:p.Val78Leu, XP_047286425.1:p.Val78Met, XP_047286426.1:p.Val65Leu, XP_047286426.1:p.Val65Met

                        12.

                        rs1476904187 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          13:37040605 (GRCh38)
                          13:37614742 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:37040604:G:A
                          Gene:
                          SUPT20H (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000094/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000035/1 (TOMMO)
                          A=0.000546/1 (Korea1K)
                          HGVS:
                          NC_000013.11:g.37040605G>A, NC_000013.10:g.37614742G>A, XM_005266449.5:c.487C>T, XM_005266449.4:c.487C>T, XM_005266449.3:c.487C>T, XM_005266449.2:c.487C>T, XM_005266449.1:c.487C>T, XM_005266456.5:c.451C>T, XM_005266456.4:c.451C>T, XM_005266456.3:c.451C>T, XM_005266456.2:c.451C>T, XM_005266456.1:c.451C>T, XM_005266458.5:c.448C>T, XM_005266458.4:c.448C>T, XM_005266458.3:c.448C>T, XM_005266458.2:c.448C>T, XM_005266458.1:c.448C>T, XM_005266451.5:c.484C>T, XM_005266451.4:c.484C>T, XM_005266451.3:c.484C>T, XM_005266451.2:c.484C>T, XM_005266451.1:c.484C>T, XM_005266454.5:c.451C>T, XM_005266454.4:c.451C>T, XM_005266454.3:c.451C>T, XM_005266454.2:c.451C>T, XM_005266454.1:c.451C>T, XM_005266457.5:c.448C>T, XM_005266457.4:c.448C>T, XM_005266457.3:c.448C>T, XM_005266457.2:c.448C>T, XM_005266457.1:c.448C>T, XM_005266462.5:c.487C>T, XM_005266462.4:c.487C>T, XM_005266462.3:c.487C>T, XM_005266462.2:c.487C>T, XM_005266462.1:c.487C>T, XM_005266461.4:c.487C>T, XM_005266461.3:c.487C>T, XM_005266461.2:c.487C>T, XM_005266461.1:c.487C>T, NM_017569.4:c.487C>T, NM_017569.3:c.487C>T, XM_005266464.4:c.487C>T, XM_005266464.3:c.487C>T, XM_005266464.2:c.487C>T, XM_005266464.1:c.487C>T, XM_005266465.4:c.484C>T, XM_005266465.3:c.484C>T, XM_005266465.2:c.484C>T, XM_005266465.1:c.484C>T, XM_005266467.4:c.487C>T, XM_005266467.3:c.487C>T, XM_005266467.2:c.487C>T, XM_005266467.1:c.487C>T, XM_005266447.3:c.487C>T, XM_005266447.2:c.487C>T, XM_005266447.1:c.487C>T, XM_005266455.3:c.487C>T, XM_005266455.2:c.487C>T, XM_005266455.1:c.487C>T, XM_017020653.3:c.484C>T, XM_017020653.2:c.484C>T, XM_017020653.1:c.484C>T, XM_005266460.3:c.487C>T, XM_005266460.2:c.487C>T, XM_005266460.1:c.487C>T, NM_001014286.3:c.484C>T, NM_001014286.2:c.484C>T, XM_017020657.3:c.484C>T, XM_017020657.2:c.484C>T, XM_017020657.1:c.484C>T, XM_017020660.3:c.484C>T, XM_017020660.2:c.484C>T, XM_017020660.1:c.484C>T, NM_001278482.2:c.487C>T, NM_001278482.1:c.487C>T, NM_001278480.2:c.484C>T, NM_001278480.1:c.484C>T, XM_017020654.2:c.451C>T, XM_017020654.1:c.451C>T, XM_017020655.2:c.448C>T, XM_017020655.1:c.448C>T, XM_024449379.2:c.448C>T, XM_024449379.1:c.448C>T, NM_001278481.2:c.487C>T, NM_001278481.1:c.487C>T, XM_017020658.2:c.451C>T, XM_017020658.1:c.451C>T, XM_017020659.2:c.448C>T, XM_017020659.1:c.448C>T, XM_017020661.2:c.448C>T, XM_017020661.1:c.448C>T, XM_047430444.1:c.484C>T, XM_047430448.1:c.448C>T, XM_047430449.1:c.484C>T, XM_047430445.1:c.451C>T, XM_047430447.1:c.448C>T, XM_047430450.1:c.451C>T, XM_047430452.1:c.484C>T, XM_047430451.1:c.448C>T, XM_047430456.1:c.487C>T, XM_047430457.1:c.484C>T, XM_047430453.1:c.451C>T, XM_047430454.1:c.448C>T, XM_047430458.1:c.451C>T, XM_047430459.1:c.484C>T, XM_047430462.1:c.484C>T, XM_047430463.1:c.484C>T, XM_047430460.1:c.451C>T, XM_047430464.1:c.451C>T, XM_047430465.1:c.487C>T, XM_047430466.1:c.484C>T, XM_047430467.1:c.451C>T, XM_047430468.1:c.448C>T, XM_047430469.1:c.487C>T, XM_047430470.1:c.448C>T, XP_005266506.1:p.Arg163Trp, XP_005266513.1:p.Arg151Trp, XP_005266515.1:p.Arg150Trp, XP_005266508.1:p.Arg162Trp, XP_005266511.1:p.Arg151Trp, XP_005266514.1:p.Arg150Trp, XP_005266519.1:p.Arg163Trp, XP_005266518.1:p.Arg163Trp, NP_060039.1:p.Arg163Trp, XP_005266521.1:p.Arg163Trp, XP_005266522.1:p.Arg162Trp, XP_005266524.1:p.Arg163Trp, XP_005266504.1:p.Arg163Trp, XP_005266512.1:p.Arg163Trp, XP_016876142.1:p.Arg162Trp, XP_005266517.1:p.Arg163Trp, NP_001014308.2:p.Arg162Trp, XP_016876146.1:p.Arg162Trp, XP_016876149.1:p.Arg162Trp, NP_001265411.1:p.Arg163Trp, NP_001265409.1:p.Arg162Trp, XP_016876143.1:p.Arg151Trp, XP_016876144.1:p.Arg150Trp, XP_024305147.1:p.Arg150Trp, NP_001265410.1:p.Arg163Trp, XP_016876147.1:p.Arg151Trp, XP_016876148.1:p.Arg150Trp, XP_016876150.1:p.Arg150Trp, XP_047286400.1:p.Arg162Trp, XP_047286404.1:p.Arg150Trp, XP_047286405.1:p.Arg162Trp, XP_047286401.1:p.Arg151Trp, XP_047286403.1:p.Arg150Trp, XP_047286406.1:p.Arg151Trp, XP_047286408.1:p.Arg162Trp, XP_047286407.1:p.Arg150Trp, XP_047286412.1:p.Arg163Trp, XP_047286413.1:p.Arg162Trp, XP_047286409.1:p.Arg151Trp, XP_047286410.1:p.Arg150Trp, XP_047286414.1:p.Arg151Trp, XP_047286415.1:p.Arg162Trp, XP_047286418.1:p.Arg162Trp, XP_047286419.1:p.Arg162Trp, XP_047286416.1:p.Arg151Trp, XP_047286420.1:p.Arg151Trp, XP_047286421.1:p.Arg163Trp, XP_047286422.1:p.Arg162Trp, XP_047286423.1:p.Arg151Trp, XP_047286424.1:p.Arg150Trp, XP_047286425.1:p.Arg163Trp, XP_047286426.1:p.Arg150Trp

                          13.

                          rs1476652346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            13:37012234 (GRCh38)
                            13:37586371 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:37012233:T:C
                            Gene:
                            SUPT20H (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.37012234T>C, NC_000013.10:g.37586371T>C, XM_005266449.5:c.2296A>G, XM_005266449.4:c.2296A>G, XM_005266449.3:c.2296A>G, XM_005266449.2:c.2296A>G, XM_005266449.1:c.2296A>G, XM_005266456.5:c.2260A>G, XM_005266456.4:c.2260A>G, XM_005266456.3:c.2260A>G, XM_005266456.2:c.2260A>G, XM_005266456.1:c.2260A>G, XM_005266458.5:c.2257A>G, XM_005266458.4:c.2257A>G, XM_005266458.3:c.2257A>G, XM_005266458.2:c.2257A>G, XM_005266458.1:c.2257A>G, XM_005266451.5:c.2293A>G, XM_005266451.4:c.2293A>G, XM_005266451.3:c.2293A>G, XM_005266451.2:c.2293A>G, XM_005266451.1:c.2293A>G, XM_005266454.5:c.2260A>G, XM_005266454.4:c.2260A>G, XM_005266454.3:c.2260A>G, XM_005266454.2:c.2260A>G, XM_005266454.1:c.2260A>G, XM_005266457.5:c.2257A>G, XM_005266457.4:c.2257A>G, XM_005266457.3:c.2257A>G, XM_005266457.2:c.2257A>G, XM_005266457.1:c.2257A>G, XM_005266462.5:c.2059A>G, XM_005266462.4:c.2059A>G, XM_005266462.3:c.2059A>G, XM_005266462.2:c.2059A>G, XM_005266462.1:c.2059A>G, XM_005266461.4:c.2260A>G, XM_005266461.3:c.2260A>G, XM_005266461.2:c.2260A>G, XM_005266461.1:c.2260A>G, NM_017569.4:c.2059A>G, NM_017569.3:c.2059A>G, XM_005266464.4:c.2023A>G, XM_005266464.3:c.2023A>G, XM_005266464.2:c.2023A>G, XM_005266464.1:c.2023A>G, XM_005266465.4:c.2056A>G, XM_005266465.3:c.2056A>G, XM_005266465.2:c.2056A>G, XM_005266465.1:c.2056A>G, XM_005266467.4:c.2023A>G, XM_005266467.3:c.2023A>G, XM_005266467.2:c.2023A>G, XM_005266467.1:c.2023A>G, XM_005266447.3:c.2296A>G, XM_005266447.2:c.2296A>G, XM_005266447.1:c.2296A>G, XM_005266455.3:c.2260A>G, XM_005266455.2:c.2260A>G, XM_005266455.1:c.2260A>G, XM_017020653.3:c.2257A>G, XM_017020653.2:c.2257A>G, XM_017020653.1:c.2257A>G, XM_005266460.3:c.2296A>G, XM_005266460.2:c.2296A>G, XM_005266460.1:c.2296A>G, NM_001014286.3:c.2056A>G, NM_001014286.2:c.2056A>G, XM_017020657.3:c.2020A>G, XM_017020657.2:c.2020A>G, XM_017020657.1:c.2020A>G, XM_017020660.3:c.2020A>G, XM_017020660.2:c.2020A>G, XM_017020660.1:c.2020A>G, NM_001278482.2:c.2059A>G, NM_001278482.1:c.2059A>G, NM_001278480.2:c.2293A>G, NM_001278480.1:c.2293A>G, XM_017020654.2:c.2023A>G, XM_017020654.1:c.2023A>G, XM_017020655.2:c.2020A>G, XM_017020655.1:c.2020A>G, XM_024449379.2:c.1984A>G, XM_024449379.1:c.1984A>G, NM_001278481.2:c.2059A>G, NM_001278481.1:c.2059A>G, XM_017020658.2:c.2023A>G, XM_017020658.1:c.2023A>G, XM_017020659.2:c.2020A>G, XM_017020659.1:c.2020A>G, XM_017020661.2:c.1984A>G, XM_017020661.1:c.1984A>G, XM_047430444.1:c.2293A>G, XM_047430448.1:c.2221A>G, XM_047430449.1:c.2293A>G, XM_047430445.1:c.2224A>G, XM_047430447.1:c.2221A>G, XM_047430450.1:c.2260A>G, XM_047430452.1:c.2257A>G, XM_047430451.1:c.2257A>G, XM_047430456.1:c.2059A>G, XM_047430457.1:c.2056A>G, XM_047430453.1:c.2224A>G, XM_047430454.1:c.2221A>G, XM_047430458.1:c.2023A>G, XM_047430459.1:c.2020A>G, XM_047430462.1:c.2056A>G, XM_047430463.1:c.2020A>G, XM_047430460.1:c.1987A>G, XM_047430464.1:c.1987A>G, XP_005266506.1:p.Asn766Asp, XP_005266513.1:p.Asn754Asp, XP_005266515.1:p.Asn753Asp, XP_005266508.1:p.Asn765Asp, XP_005266511.1:p.Asn754Asp, XP_005266514.1:p.Asn753Asp, XP_005266519.1:p.Asn687Asp, XP_005266518.1:p.Asn754Asp, NP_060039.1:p.Asn687Asp, XP_005266521.1:p.Asn675Asp, XP_005266522.1:p.Asn686Asp, XP_005266524.1:p.Asn675Asp, XP_005266504.1:p.Asn766Asp, XP_005266512.1:p.Asn754Asp, XP_016876142.1:p.Asn753Asp, XP_005266517.1:p.Asn766Asp, NP_001014308.2:p.Asn686Asp, XP_016876146.1:p.Asn674Asp, XP_016876149.1:p.Asn674Asp, NP_001265411.1:p.Asn687Asp, NP_001265409.1:p.Asn765Asp, XP_016876143.1:p.Asn675Asp, XP_016876144.1:p.Asn674Asp, XP_024305147.1:p.Asn662Asp, NP_001265410.1:p.Asn687Asp, XP_016876147.1:p.Asn675Asp, XP_016876148.1:p.Asn674Asp, XP_016876150.1:p.Asn662Asp, XP_047286400.1:p.Asn765Asp, XP_047286404.1:p.Asn741Asp, XP_047286405.1:p.Asn765Asp, XP_047286401.1:p.Asn742Asp, XP_047286403.1:p.Asn741Asp, XP_047286406.1:p.Asn754Asp, XP_047286408.1:p.Asn753Asp, XP_047286407.1:p.Asn753Asp, XP_047286412.1:p.Asn687Asp, XP_047286413.1:p.Asn686Asp, XP_047286409.1:p.Asn742Asp, XP_047286410.1:p.Asn741Asp, XP_047286414.1:p.Asn675Asp, XP_047286415.1:p.Asn674Asp, XP_047286418.1:p.Asn686Asp, XP_047286419.1:p.Asn674Asp, XP_047286416.1:p.Asn663Asp, XP_047286420.1:p.Asn663Asp

                            14.

                            rs1476374201 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              13:37028291 (GRCh38)
                              13:37602428 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:37028290:A:C
                              Gene:
                              SUPT20H (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.37028291A>C, NC_000013.10:g.37602428A>C, XM_005266449.5:c.1011T>G, XM_005266449.4:c.1011T>G, XM_005266449.3:c.1011T>G, XM_005266449.2:c.1011T>G, XM_005266449.1:c.1011T>G, XM_005266456.5:c.975T>G, XM_005266456.4:c.975T>G, XM_005266456.3:c.975T>G, XM_005266456.2:c.975T>G, XM_005266456.1:c.975T>G, XM_005266458.5:c.972T>G, XM_005266458.4:c.972T>G, XM_005266458.3:c.972T>G, XM_005266458.2:c.972T>G, XM_005266458.1:c.972T>G, XM_005266451.5:c.1008T>G, XM_005266451.4:c.1008T>G, XM_005266451.3:c.1008T>G, XM_005266451.2:c.1008T>G, XM_005266451.1:c.1008T>G, XM_005266454.5:c.975T>G, XM_005266454.4:c.975T>G, XM_005266454.3:c.975T>G, XM_005266454.2:c.975T>G, XM_005266454.1:c.975T>G, XM_005266457.5:c.972T>G, XM_005266457.4:c.972T>G, XM_005266457.3:c.972T>G, XM_005266457.2:c.972T>G, XM_005266457.1:c.972T>G, XM_005266462.5:c.1011T>G, XM_005266462.4:c.1011T>G, XM_005266462.3:c.1011T>G, XM_005266462.2:c.1011T>G, XM_005266462.1:c.1011T>G, XM_005266461.4:c.1011T>G, XM_005266461.3:c.1011T>G, XM_005266461.2:c.1011T>G, XM_005266461.1:c.1011T>G, NM_017569.4:c.1011T>G, NM_017569.3:c.1011T>G, XM_005266464.4:c.1011T>G, XM_005266464.3:c.1011T>G, XM_005266464.2:c.1011T>G, XM_005266464.1:c.1011T>G, XM_005266465.4:c.1008T>G, XM_005266465.3:c.1008T>G, XM_005266465.2:c.1008T>G, XM_005266465.1:c.1008T>G, XM_005266467.4:c.1011T>G, XM_005266467.3:c.1011T>G, XM_005266467.2:c.1011T>G, XM_005266467.1:c.1011T>G, XM_005266447.3:c.1011T>G, XM_005266447.2:c.1011T>G, XM_005266447.1:c.1011T>G, XM_005266455.3:c.1011T>G, XM_005266455.2:c.1011T>G, XM_005266455.1:c.1011T>G, XM_017020653.3:c.1008T>G, XM_017020653.2:c.1008T>G, XM_017020653.1:c.1008T>G, XM_005266460.3:c.1011T>G, XM_005266460.2:c.1011T>G, XM_005266460.1:c.1011T>G, NM_001014286.3:c.1008T>G, NM_001014286.2:c.1008T>G, XM_017020657.3:c.1008T>G, XM_017020657.2:c.1008T>G, XM_017020657.1:c.1008T>G, XM_017020660.3:c.1008T>G, XM_017020660.2:c.1008T>G, XM_017020660.1:c.1008T>G, NM_001278482.2:c.1011T>G, NM_001278482.1:c.1011T>G, NM_001278480.2:c.1008T>G, NM_001278480.1:c.1008T>G, XM_017020654.2:c.975T>G, XM_017020654.1:c.975T>G, XM_017020655.2:c.972T>G, XM_017020655.1:c.972T>G, XM_024449379.2:c.972T>G, XM_024449379.1:c.972T>G, NM_001278481.2:c.1011T>G, NM_001278481.1:c.1011T>G, XM_017020658.2:c.975T>G, XM_017020658.1:c.975T>G, XM_017020659.2:c.972T>G, XM_017020659.1:c.972T>G, XM_017020661.2:c.972T>G, XM_017020661.1:c.972T>G, XM_047430444.1:c.1008T>G, XM_047430448.1:c.972T>G, XM_047430449.1:c.1008T>G, XM_047430445.1:c.975T>G, XM_047430447.1:c.972T>G, XM_047430450.1:c.975T>G, XM_047430452.1:c.1008T>G, XM_047430451.1:c.972T>G, XM_047430456.1:c.1011T>G, XM_047430457.1:c.1008T>G, XM_047430453.1:c.975T>G, XM_047430454.1:c.972T>G, XM_047430458.1:c.975T>G, XM_047430459.1:c.1008T>G, XM_047430462.1:c.1008T>G, XM_047430463.1:c.1008T>G, XM_047430460.1:c.975T>G, XM_047430464.1:c.975T>G, XM_047430465.1:c.1011T>G, XM_047430466.1:c.1008T>G, XM_047430467.1:c.975T>G, XM_047430468.1:c.972T>G, XM_047430469.1:c.1011T>G, XM_047430470.1:c.972T>G, XP_005266506.1:p.Asp337Glu, XP_005266513.1:p.Asp325Glu, XP_005266515.1:p.Asp324Glu, XP_005266508.1:p.Asp336Glu, XP_005266511.1:p.Asp325Glu, XP_005266514.1:p.Asp324Glu, XP_005266519.1:p.Asp337Glu, XP_005266518.1:p.Asp337Glu, NP_060039.1:p.Asp337Glu, XP_005266521.1:p.Asp337Glu, XP_005266522.1:p.Asp336Glu, XP_005266524.1:p.Asp337Glu, XP_005266504.1:p.Asp337Glu, XP_005266512.1:p.Asp337Glu, XP_016876142.1:p.Asp336Glu, XP_005266517.1:p.Asp337Glu, NP_001014308.2:p.Asp336Glu, XP_016876146.1:p.Asp336Glu, XP_016876149.1:p.Asp336Glu, NP_001265411.1:p.Asp337Glu, NP_001265409.1:p.Asp336Glu, XP_016876143.1:p.Asp325Glu, XP_016876144.1:p.Asp324Glu, XP_024305147.1:p.Asp324Glu, NP_001265410.1:p.Asp337Glu, XP_016876147.1:p.Asp325Glu, XP_016876148.1:p.Asp324Glu, XP_016876150.1:p.Asp324Glu, XP_047286400.1:p.Asp336Glu, XP_047286404.1:p.Asp324Glu, XP_047286405.1:p.Asp336Glu, XP_047286401.1:p.Asp325Glu, XP_047286403.1:p.Asp324Glu, XP_047286406.1:p.Asp325Glu, XP_047286408.1:p.Asp336Glu, XP_047286407.1:p.Asp324Glu, XP_047286412.1:p.Asp337Glu, XP_047286413.1:p.Asp336Glu, XP_047286409.1:p.Asp325Glu, XP_047286410.1:p.Asp324Glu, XP_047286414.1:p.Asp325Glu, XP_047286415.1:p.Asp336Glu, XP_047286418.1:p.Asp336Glu, XP_047286419.1:p.Asp336Glu, XP_047286416.1:p.Asp325Glu, XP_047286420.1:p.Asp325Glu, XP_047286421.1:p.Asp337Glu, XP_047286422.1:p.Asp336Glu, XP_047286423.1:p.Asp325Glu, XP_047286424.1:p.Asp324Glu, XP_047286425.1:p.Asp337Glu, XP_047286426.1:p.Asp324Glu

                              15.

                              rs1474427138 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:37024366 (GRCh38)
                                13:37598503 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:37024365:G:A
                                Gene:
                                SUPT20H (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000043/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000013.11:g.37024366G>A, NC_000013.10:g.37598503G>A, XM_005266449.5:c.1409C>T, XM_005266449.4:c.1409C>T, XM_005266449.3:c.1409C>T, XM_005266449.2:c.1409C>T, XM_005266449.1:c.1409C>T, XM_005266456.5:c.1373C>T, XM_005266456.4:c.1373C>T, XM_005266456.3:c.1373C>T, XM_005266456.2:c.1373C>T, XM_005266456.1:c.1373C>T, XM_005266458.5:c.1370C>T, XM_005266458.4:c.1370C>T, XM_005266458.3:c.1370C>T, XM_005266458.2:c.1370C>T, XM_005266458.1:c.1370C>T, XM_005266451.5:c.1406C>T, XM_005266451.4:c.1406C>T, XM_005266451.3:c.1406C>T, XM_005266451.2:c.1406C>T, XM_005266451.1:c.1406C>T, XM_005266454.5:c.1373C>T, XM_005266454.4:c.1373C>T, XM_005266454.3:c.1373C>T, XM_005266454.2:c.1373C>T, XM_005266454.1:c.1373C>T, XM_005266457.5:c.1370C>T, XM_005266457.4:c.1370C>T, XM_005266457.3:c.1370C>T, XM_005266457.2:c.1370C>T, XM_005266457.1:c.1370C>T, XM_005266462.5:c.1409C>T, XM_005266462.4:c.1409C>T, XM_005266462.3:c.1409C>T, XM_005266462.2:c.1409C>T, XM_005266462.1:c.1409C>T, XM_005266461.4:c.1409C>T, XM_005266461.3:c.1409C>T, XM_005266461.2:c.1409C>T, XM_005266461.1:c.1409C>T, NM_017569.4:c.1409C>T, NM_017569.3:c.1409C>T, XM_005266464.4:c.1409C>T, XM_005266464.3:c.1409C>T, XM_005266464.2:c.1409C>T, XM_005266464.1:c.1409C>T, XM_005266465.4:c.1406C>T, XM_005266465.3:c.1406C>T, XM_005266465.2:c.1406C>T, XM_005266465.1:c.1406C>T, XM_005266467.4:c.1409C>T, XM_005266467.3:c.1409C>T, XM_005266467.2:c.1409C>T, XM_005266467.1:c.1409C>T, XM_005266447.3:c.1409C>T, XM_005266447.2:c.1409C>T, XM_005266447.1:c.1409C>T, XM_005266455.3:c.1409C>T, XM_005266455.2:c.1409C>T, XM_005266455.1:c.1409C>T, XM_017020653.3:c.1406C>T, XM_017020653.2:c.1406C>T, XM_017020653.1:c.1406C>T, XM_005266460.3:c.1409C>T, XM_005266460.2:c.1409C>T, XM_005266460.1:c.1409C>T, NM_001014286.3:c.1406C>T, NM_001014286.2:c.1406C>T, XM_017020657.3:c.1406C>T, XM_017020657.2:c.1406C>T, XM_017020657.1:c.1406C>T, XM_017020660.3:c.1406C>T, XM_017020660.2:c.1406C>T, XM_017020660.1:c.1406C>T, NM_001278482.2:c.1409C>T, NM_001278482.1:c.1409C>T, NM_001278480.2:c.1406C>T, NM_001278480.1:c.1406C>T, XM_017020654.2:c.1373C>T, XM_017020654.1:c.1373C>T, XM_017020655.2:c.1370C>T, XM_017020655.1:c.1370C>T, XM_024449379.2:c.1370C>T, XM_024449379.1:c.1370C>T, NM_001278481.2:c.1409C>T, NM_001278481.1:c.1409C>T, XM_017020658.2:c.1373C>T, XM_017020658.1:c.1373C>T, XM_017020659.2:c.1370C>T, XM_017020659.1:c.1370C>T, XM_017020661.2:c.1370C>T, XM_017020661.1:c.1370C>T, XM_047430444.1:c.1406C>T, XM_047430448.1:c.1370C>T, XM_047430449.1:c.1406C>T, XM_047430445.1:c.1373C>T, XM_047430447.1:c.1370C>T, XM_047430450.1:c.1373C>T, XM_047430452.1:c.1406C>T, XM_047430451.1:c.1370C>T, XM_047430456.1:c.1409C>T, XM_047430457.1:c.1406C>T, XM_047430453.1:c.1373C>T, XM_047430454.1:c.1370C>T, XM_047430458.1:c.1373C>T, XM_047430459.1:c.1406C>T, XM_047430462.1:c.1406C>T, XM_047430463.1:c.1406C>T, XM_047430460.1:c.1373C>T, XM_047430464.1:c.1373C>T, XM_047430465.1:c.1409C>T, XM_047430466.1:c.1406C>T, XM_047430467.1:c.1373C>T, XM_047430468.1:c.1370C>T, XM_047430469.1:c.*28C>T, XM_047430470.1:c.*28C>T, XP_005266506.1:p.Pro470Leu, XP_005266513.1:p.Pro458Leu, XP_005266515.1:p.Pro457Leu, XP_005266508.1:p.Pro469Leu, XP_005266511.1:p.Pro458Leu, XP_005266514.1:p.Pro457Leu, XP_005266519.1:p.Pro470Leu, XP_005266518.1:p.Pro470Leu, NP_060039.1:p.Pro470Leu, XP_005266521.1:p.Pro470Leu, XP_005266522.1:p.Pro469Leu, XP_005266524.1:p.Pro470Leu, XP_005266504.1:p.Pro470Leu, XP_005266512.1:p.Pro470Leu, XP_016876142.1:p.Pro469Leu, XP_005266517.1:p.Pro470Leu, NP_001014308.2:p.Pro469Leu, XP_016876146.1:p.Pro469Leu, XP_016876149.1:p.Pro469Leu, NP_001265411.1:p.Pro470Leu, NP_001265409.1:p.Pro469Leu, XP_016876143.1:p.Pro458Leu, XP_016876144.1:p.Pro457Leu, XP_024305147.1:p.Pro457Leu, NP_001265410.1:p.Pro470Leu, XP_016876147.1:p.Pro458Leu, XP_016876148.1:p.Pro457Leu, XP_016876150.1:p.Pro457Leu, XP_047286400.1:p.Pro469Leu, XP_047286404.1:p.Pro457Leu, XP_047286405.1:p.Pro469Leu, XP_047286401.1:p.Pro458Leu, XP_047286403.1:p.Pro457Leu, XP_047286406.1:p.Pro458Leu, XP_047286408.1:p.Pro469Leu, XP_047286407.1:p.Pro457Leu, XP_047286412.1:p.Pro470Leu, XP_047286413.1:p.Pro469Leu, XP_047286409.1:p.Pro458Leu, XP_047286410.1:p.Pro457Leu, XP_047286414.1:p.Pro458Leu, XP_047286415.1:p.Pro469Leu, XP_047286418.1:p.Pro469Leu, XP_047286419.1:p.Pro469Leu, XP_047286416.1:p.Pro458Leu, XP_047286420.1:p.Pro458Leu, XP_047286421.1:p.Pro470Leu, XP_047286422.1:p.Pro469Leu, XP_047286423.1:p.Pro458Leu, XP_047286424.1:p.Pro457Leu

                                16.

                                rs1473625329 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  13:37031746 (GRCh38)
                                  13:37605883 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:37031745:G:A
                                  Gene:
                                  SUPT20H (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000013.11:g.37031746G>A, NC_000013.10:g.37605883G>A, XM_005266449.5:c.860C>T, XM_005266449.4:c.860C>T, XM_005266449.3:c.860C>T, XM_005266449.2:c.860C>T, XM_005266449.1:c.860C>T, XM_005266456.5:c.824C>T, XM_005266456.4:c.824C>T, XM_005266456.3:c.824C>T, XM_005266456.2:c.824C>T, XM_005266456.1:c.824C>T, XM_005266458.5:c.821C>T, XM_005266458.4:c.821C>T, XM_005266458.3:c.821C>T, XM_005266458.2:c.821C>T, XM_005266458.1:c.821C>T, XM_005266451.5:c.857C>T, XM_005266451.4:c.857C>T, XM_005266451.3:c.857C>T, XM_005266451.2:c.857C>T, XM_005266451.1:c.857C>T, XM_005266454.5:c.824C>T, XM_005266454.4:c.824C>T, XM_005266454.3:c.824C>T, XM_005266454.2:c.824C>T, XM_005266454.1:c.824C>T, XM_005266457.5:c.821C>T, XM_005266457.4:c.821C>T, XM_005266457.3:c.821C>T, XM_005266457.2:c.821C>T, XM_005266457.1:c.821C>T, XM_005266462.5:c.860C>T, XM_005266462.4:c.860C>T, XM_005266462.3:c.860C>T, XM_005266462.2:c.860C>T, XM_005266462.1:c.860C>T, XM_005266461.4:c.860C>T, XM_005266461.3:c.860C>T, XM_005266461.2:c.860C>T, XM_005266461.1:c.860C>T, NM_017569.4:c.860C>T, NM_017569.3:c.860C>T, XM_005266464.4:c.860C>T, XM_005266464.3:c.860C>T, XM_005266464.2:c.860C>T, XM_005266464.1:c.860C>T, XM_005266465.4:c.857C>T, XM_005266465.3:c.857C>T, XM_005266465.2:c.857C>T, XM_005266465.1:c.857C>T, XM_005266467.4:c.860C>T, XM_005266467.3:c.860C>T, XM_005266467.2:c.860C>T, XM_005266467.1:c.860C>T, XM_005266447.3:c.860C>T, XM_005266447.2:c.860C>T, XM_005266447.1:c.860C>T, XM_005266455.3:c.860C>T, XM_005266455.2:c.860C>T, XM_005266455.1:c.860C>T, XM_017020653.3:c.857C>T, XM_017020653.2:c.857C>T, XM_017020653.1:c.857C>T, XM_005266460.3:c.860C>T, XM_005266460.2:c.860C>T, XM_005266460.1:c.860C>T, NM_001014286.3:c.857C>T, NM_001014286.2:c.857C>T, XM_017020657.3:c.857C>T, XM_017020657.2:c.857C>T, XM_017020657.1:c.857C>T, XM_017020660.3:c.857C>T, XM_017020660.2:c.857C>T, XM_017020660.1:c.857C>T, NM_001278482.2:c.860C>T, NM_001278482.1:c.860C>T, NM_001278480.2:c.857C>T, NM_001278480.1:c.857C>T, XM_017020654.2:c.824C>T, XM_017020654.1:c.824C>T, XM_017020655.2:c.821C>T, XM_017020655.1:c.821C>T, XM_024449379.2:c.821C>T, XM_024449379.1:c.821C>T, NM_001278481.2:c.860C>T, NM_001278481.1:c.860C>T, XM_017020658.2:c.824C>T, XM_017020658.1:c.824C>T, XM_017020659.2:c.821C>T, XM_017020659.1:c.821C>T, XM_017020661.2:c.821C>T, XM_017020661.1:c.821C>T, XM_047430444.1:c.857C>T, XM_047430448.1:c.821C>T, XM_047430449.1:c.857C>T, XM_047430445.1:c.824C>T, XM_047430447.1:c.821C>T, XM_047430450.1:c.824C>T, XM_047430452.1:c.857C>T, XM_047430451.1:c.821C>T, XM_047430456.1:c.860C>T, XM_047430457.1:c.857C>T, XM_047430453.1:c.824C>T, XM_047430454.1:c.821C>T, XM_047430458.1:c.824C>T, XM_047430459.1:c.857C>T, XM_047430462.1:c.857C>T, XM_047430463.1:c.857C>T, XM_047430460.1:c.824C>T, XM_047430464.1:c.824C>T, XM_047430465.1:c.860C>T, XM_047430466.1:c.857C>T, XM_047430467.1:c.824C>T, XM_047430468.1:c.821C>T, XM_047430469.1:c.860C>T, XM_047430470.1:c.821C>T, XP_005266506.1:p.Ala287Val, XP_005266513.1:p.Ala275Val, XP_005266515.1:p.Ala274Val, XP_005266508.1:p.Ala286Val, XP_005266511.1:p.Ala275Val, XP_005266514.1:p.Ala274Val, XP_005266519.1:p.Ala287Val, XP_005266518.1:p.Ala287Val, NP_060039.1:p.Ala287Val, XP_005266521.1:p.Ala287Val, XP_005266522.1:p.Ala286Val, XP_005266524.1:p.Ala287Val, XP_005266504.1:p.Ala287Val, XP_005266512.1:p.Ala287Val, XP_016876142.1:p.Ala286Val, XP_005266517.1:p.Ala287Val, NP_001014308.2:p.Ala286Val, XP_016876146.1:p.Ala286Val, XP_016876149.1:p.Ala286Val, NP_001265411.1:p.Ala287Val, NP_001265409.1:p.Ala286Val, XP_016876143.1:p.Ala275Val, XP_016876144.1:p.Ala274Val, XP_024305147.1:p.Ala274Val, NP_001265410.1:p.Ala287Val, XP_016876147.1:p.Ala275Val, XP_016876148.1:p.Ala274Val, XP_016876150.1:p.Ala274Val, XP_047286400.1:p.Ala286Val, XP_047286404.1:p.Ala274Val, XP_047286405.1:p.Ala286Val, XP_047286401.1:p.Ala275Val, XP_047286403.1:p.Ala274Val, XP_047286406.1:p.Ala275Val, XP_047286408.1:p.Ala286Val, XP_047286407.1:p.Ala274Val, XP_047286412.1:p.Ala287Val, XP_047286413.1:p.Ala286Val, XP_047286409.1:p.Ala275Val, XP_047286410.1:p.Ala274Val, XP_047286414.1:p.Ala275Val, XP_047286415.1:p.Ala286Val, XP_047286418.1:p.Ala286Val, XP_047286419.1:p.Ala286Val, XP_047286416.1:p.Ala275Val, XP_047286420.1:p.Ala275Val, XP_047286421.1:p.Ala287Val, XP_047286422.1:p.Ala286Val, XP_047286423.1:p.Ala275Val, XP_047286424.1:p.Ala274Val, XP_047286425.1:p.Ala287Val, XP_047286426.1:p.Ala274Val

                                  17.

                                  rs1472377500 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    13:37022278 (GRCh38)
                                    13:37596415 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:37022277:G:T
                                    Gene:
                                    SUPT20H (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_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_000013.11:g.37022278G>T, NC_000013.10:g.37596415G>T, XM_005266449.5:c.1634C>A, XM_005266449.4:c.1634C>A, XM_005266449.3:c.1634C>A, XM_005266449.2:c.1634C>A, XM_005266449.1:c.1634C>A, XM_005266456.5:c.1598C>A, XM_005266456.4:c.1598C>A, XM_005266456.3:c.1598C>A, XM_005266456.2:c.1598C>A, XM_005266456.1:c.1598C>A, XM_005266458.5:c.1595C>A, XM_005266458.4:c.1595C>A, XM_005266458.3:c.1595C>A, XM_005266458.2:c.1595C>A, XM_005266458.1:c.1595C>A, XM_005266451.5:c.1631C>A, XM_005266451.4:c.1631C>A, XM_005266451.3:c.1631C>A, XM_005266451.2:c.1631C>A, XM_005266451.1:c.1631C>A, XM_005266454.5:c.1598C>A, XM_005266454.4:c.1598C>A, XM_005266454.3:c.1598C>A, XM_005266454.2:c.1598C>A, XM_005266454.1:c.1598C>A, XM_005266457.5:c.1595C>A, XM_005266457.4:c.1595C>A, XM_005266457.3:c.1595C>A, XM_005266457.2:c.1595C>A, XM_005266457.1:c.1595C>A, XM_005266461.4:c.1634C>A, XM_005266461.3:c.1634C>A, XM_005266461.2:c.1634C>A, XM_005266461.1:c.1634C>A, XM_005266447.3:c.1634C>A, XM_005266447.2:c.1634C>A, XM_005266447.1:c.1634C>A, XM_005266455.3:c.1634C>A, XM_005266455.2:c.1634C>A, XM_005266455.1:c.1634C>A, XM_017020653.3:c.1631C>A, XM_017020653.2:c.1631C>A, XM_017020653.1:c.1631C>A, XM_005266460.3:c.1634C>A, XM_005266460.2:c.1634C>A, XM_005266460.1:c.1634C>A, NM_001278480.2:c.1631C>A, NM_001278480.1:c.1631C>A, XM_047430444.1:c.1631C>A, XM_047430448.1:c.1595C>A, XM_047430449.1:c.1631C>A, XM_047430445.1:c.1598C>A, XM_047430447.1:c.1595C>A, XM_047430450.1:c.1598C>A, XM_047430452.1:c.1631C>A, XM_047430451.1:c.1595C>A, XM_047430453.1:c.1598C>A, XM_047430454.1:c.1595C>A, XP_005266506.1:p.Pro545His, XP_005266513.1:p.Pro533His, XP_005266515.1:p.Pro532His, XP_005266508.1:p.Pro544His, XP_005266511.1:p.Pro533His, XP_005266514.1:p.Pro532His, XP_005266518.1:p.Pro545His, XP_005266504.1:p.Pro545His, XP_005266512.1:p.Pro545His, XP_016876142.1:p.Pro544His, XP_005266517.1:p.Pro545His, NP_001265409.1:p.Pro544His, XP_047286400.1:p.Pro544His, XP_047286404.1:p.Pro532His, XP_047286405.1:p.Pro544His, XP_047286401.1:p.Pro533His, XP_047286403.1:p.Pro532His, XP_047286406.1:p.Pro533His, XP_047286408.1:p.Pro544His, XP_047286407.1:p.Pro532His, XP_047286409.1:p.Pro533His, XP_047286410.1:p.Pro532His

                                    18.

                                    rs1471481064 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      13:37017344 (GRCh38)
                                      13:37591481 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:37017343:A:C
                                      Gene:
                                      SUPT20H (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000013.11:g.37017344A>C, NC_000013.10:g.37591481A>C, XM_005266449.5:c.2133T>G, XM_005266449.4:c.2133T>G, XM_005266449.3:c.2133T>G, XM_005266449.2:c.2133T>G, XM_005266449.1:c.2133T>G, XM_005266456.5:c.2097T>G, XM_005266456.4:c.2097T>G, XM_005266456.3:c.2097T>G, XM_005266456.2:c.2097T>G, XM_005266456.1:c.2097T>G, XM_005266458.5:c.2094T>G, XM_005266458.4:c.2094T>G, XM_005266458.3:c.2094T>G, XM_005266458.2:c.2094T>G, XM_005266458.1:c.2094T>G, XM_005266451.5:c.2130T>G, XM_005266451.4:c.2130T>G, XM_005266451.3:c.2130T>G, XM_005266451.2:c.2130T>G, XM_005266451.1:c.2130T>G, XM_005266454.5:c.2097T>G, XM_005266454.4:c.2097T>G, XM_005266454.3:c.2097T>G, XM_005266454.2:c.2097T>G, XM_005266454.1:c.2097T>G, XM_005266457.5:c.2094T>G, XM_005266457.4:c.2094T>G, XM_005266457.3:c.2094T>G, XM_005266457.2:c.2094T>G, XM_005266457.1:c.2094T>G, XM_005266462.5:c.1896T>G, XM_005266462.4:c.1896T>G, XM_005266462.3:c.1896T>G, XM_005266462.2:c.1896T>G, XM_005266462.1:c.1896T>G, NM_017569.4:c.1896T>G, NM_017569.3:c.1896T>G, XM_005266465.4:c.1893T>G, XM_005266465.3:c.1893T>G, XM_005266465.2:c.1893T>G, XM_005266465.1:c.1893T>G, XM_005266447.3:c.2133T>G, XM_005266447.2:c.2133T>G, XM_005266447.1:c.2133T>G, XM_005266460.3:c.2133T>G, XM_005266460.2:c.2133T>G, XM_005266460.1:c.2133T>G, NM_001014286.3:c.1893T>G, NM_001014286.2:c.1893T>G, NM_001278482.2:c.1896T>G, NM_001278482.1:c.1896T>G, NM_001278480.2:c.2130T>G, NM_001278480.1:c.2130T>G, XM_017020654.2:c.1860T>G, XM_017020654.1:c.1860T>G, XM_017020655.2:c.1857T>G, XM_017020655.1:c.1857T>G, NM_001278481.2:c.1896T>G, NM_001278481.1:c.1896T>G, XM_017020658.2:c.1860T>G, XM_017020658.1:c.1860T>G, XM_017020659.2:c.1857T>G, XM_017020659.1:c.1857T>G, XM_047430444.1:c.2130T>G, XM_047430449.1:c.2130T>G, XM_047430450.1:c.2097T>G, XM_047430451.1:c.2094T>G, XM_047430456.1:c.1896T>G, XM_047430457.1:c.1893T>G, XM_047430458.1:c.1860T>G, XM_047430462.1:c.1893T>G, XP_005266506.1:p.Ile711Met, XP_005266513.1:p.Ile699Met, XP_005266515.1:p.Ile698Met, XP_005266508.1:p.Ile710Met, XP_005266511.1:p.Ile699Met, XP_005266514.1:p.Ile698Met, XP_005266519.1:p.Ile632Met, NP_060039.1:p.Ile632Met, XP_005266522.1:p.Ile631Met, XP_005266504.1:p.Ile711Met, XP_005266517.1:p.Ile711Met, NP_001014308.2:p.Ile631Met, NP_001265411.1:p.Ile632Met, NP_001265409.1:p.Ile710Met, XP_016876143.1:p.Ile620Met, XP_016876144.1:p.Ile619Met, NP_001265410.1:p.Ile632Met, XP_016876147.1:p.Ile620Met, XP_016876148.1:p.Ile619Met, XP_047286400.1:p.Ile710Met, XP_047286405.1:p.Ile710Met, XP_047286406.1:p.Ile699Met, XP_047286407.1:p.Ile698Met, XP_047286412.1:p.Ile632Met, XP_047286413.1:p.Ile631Met, XP_047286414.1:p.Ile620Met, XP_047286418.1:p.Ile631Met

                                      19.

                                      rs1471459420 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        13:37019383 (GRCh38)
                                        13:37593520 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:37019382:A:C
                                        Gene:
                                        SUPT20H (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000013.11:g.37019383A>C, NC_000013.10:g.37593520A>C, XM_005266449.5:c.2071T>G, XM_005266449.4:c.2071T>G, XM_005266449.3:c.2071T>G, XM_005266449.2:c.2071T>G, XM_005266449.1:c.2071T>G, XM_005266456.5:c.2035T>G, XM_005266456.4:c.2035T>G, XM_005266456.3:c.2035T>G, XM_005266456.2:c.2035T>G, XM_005266456.1:c.2035T>G, XM_005266458.5:c.2032T>G, XM_005266458.4:c.2032T>G, XM_005266458.3:c.2032T>G, XM_005266458.2:c.2032T>G, XM_005266458.1:c.2032T>G, XM_005266451.5:c.2068T>G, XM_005266451.4:c.2068T>G, XM_005266451.3:c.2068T>G, XM_005266451.2:c.2068T>G, XM_005266451.1:c.2068T>G, XM_005266454.5:c.2035T>G, XM_005266454.4:c.2035T>G, XM_005266454.3:c.2035T>G, XM_005266454.2:c.2035T>G, XM_005266454.1:c.2035T>G, XM_005266457.5:c.2032T>G, XM_005266457.4:c.2032T>G, XM_005266457.3:c.2032T>G, XM_005266457.2:c.2032T>G, XM_005266457.1:c.2032T>G, XM_005266462.5:c.1834T>G, XM_005266462.4:c.1834T>G, XM_005266462.3:c.1834T>G, XM_005266462.2:c.1834T>G, XM_005266462.1:c.1834T>G, XM_005266461.4:c.2071T>G, XM_005266461.3:c.2071T>G, XM_005266461.2:c.2071T>G, XM_005266461.1:c.2071T>G, NM_017569.4:c.1834T>G, NM_017569.3:c.1834T>G, XM_005266464.4:c.1834T>G, XM_005266464.3:c.1834T>G, XM_005266464.2:c.1834T>G, XM_005266464.1:c.1834T>G, XM_005266465.4:c.1831T>G, XM_005266465.3:c.1831T>G, XM_005266465.2:c.1831T>G, XM_005266465.1:c.1831T>G, XM_005266467.4:c.1834T>G, XM_005266467.3:c.1834T>G, XM_005266467.2:c.1834T>G, XM_005266467.1:c.1834T>G, XM_005266447.3:c.2071T>G, XM_005266447.2:c.2071T>G, XM_005266447.1:c.2071T>G, XM_005266455.3:c.2071T>G, XM_005266455.2:c.2071T>G, XM_005266455.1:c.2071T>G, XM_017020653.3:c.2068T>G, XM_017020653.2:c.2068T>G, XM_017020653.1:c.2068T>G, XM_005266460.3:c.2071T>G, XM_005266460.2:c.2071T>G, XM_005266460.1:c.2071T>G, NM_001014286.3:c.1831T>G, NM_001014286.2:c.1831T>G, XM_017020657.3:c.1831T>G, XM_017020657.2:c.1831T>G, XM_017020657.1:c.1831T>G, XM_017020660.3:c.1831T>G, XM_017020660.2:c.1831T>G, XM_017020660.1:c.1831T>G, NM_001278482.2:c.1834T>G, NM_001278482.1:c.1834T>G, NM_001278480.2:c.2068T>G, NM_001278480.1:c.2068T>G, XM_017020654.2:c.1798T>G, XM_017020654.1:c.1798T>G, XM_017020655.2:c.1795T>G, XM_017020655.1:c.1795T>G, XM_024449379.2:c.1795T>G, XM_024449379.1:c.1795T>G, NM_001278481.2:c.1834T>G, NM_001278481.1:c.1834T>G, XM_017020658.2:c.1798T>G, XM_017020658.1:c.1798T>G, XM_017020659.2:c.1795T>G, XM_017020659.1:c.1795T>G, XM_017020661.2:c.1795T>G, XM_017020661.1:c.1795T>G, XM_047430444.1:c.2068T>G, XM_047430448.1:c.2032T>G, XM_047430449.1:c.2068T>G, XM_047430445.1:c.2035T>G, XM_047430447.1:c.2032T>G, XM_047430450.1:c.2035T>G, XM_047430452.1:c.2068T>G, XM_047430451.1:c.2032T>G, XM_047430456.1:c.1834T>G, XM_047430457.1:c.1831T>G, XM_047430453.1:c.2035T>G, XM_047430454.1:c.2032T>G, XM_047430458.1:c.1798T>G, XM_047430459.1:c.1831T>G, XM_047430462.1:c.1831T>G, XM_047430463.1:c.1831T>G, XM_047430460.1:c.1798T>G, XM_047430464.1:c.1798T>G, XP_005266506.1:p.Leu691Val, XP_005266513.1:p.Leu679Val, XP_005266515.1:p.Leu678Val, XP_005266508.1:p.Leu690Val, XP_005266511.1:p.Leu679Val, XP_005266514.1:p.Leu678Val, XP_005266519.1:p.Leu612Val, XP_005266518.1:p.Leu691Val, NP_060039.1:p.Leu612Val, XP_005266521.1:p.Leu612Val, XP_005266522.1:p.Leu611Val, XP_005266524.1:p.Leu612Val, XP_005266504.1:p.Leu691Val, XP_005266512.1:p.Leu691Val, XP_016876142.1:p.Leu690Val, XP_005266517.1:p.Leu691Val, NP_001014308.2:p.Leu611Val, XP_016876146.1:p.Leu611Val, XP_016876149.1:p.Leu611Val, NP_001265411.1:p.Leu612Val, NP_001265409.1:p.Leu690Val, XP_016876143.1:p.Leu600Val, XP_016876144.1:p.Leu599Val, XP_024305147.1:p.Leu599Val, NP_001265410.1:p.Leu612Val, XP_016876147.1:p.Leu600Val, XP_016876148.1:p.Leu599Val, XP_016876150.1:p.Leu599Val, XP_047286400.1:p.Leu690Val, XP_047286404.1:p.Leu678Val, XP_047286405.1:p.Leu690Val, XP_047286401.1:p.Leu679Val, XP_047286403.1:p.Leu678Val, XP_047286406.1:p.Leu679Val, XP_047286408.1:p.Leu690Val, XP_047286407.1:p.Leu678Val, XP_047286412.1:p.Leu612Val, XP_047286413.1:p.Leu611Val, XP_047286409.1:p.Leu679Val, XP_047286410.1:p.Leu678Val, XP_047286414.1:p.Leu600Val, XP_047286415.1:p.Leu611Val, XP_047286418.1:p.Leu611Val, XP_047286419.1:p.Leu611Val, XP_047286416.1:p.Leu600Val, XP_047286420.1:p.Leu600Val

                                        20.

                                        rs1470553154 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:37010633 (GRCh38)
                                          13:37584770 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:37010632:G:A
                                          Gene:
                                          SUPT20H (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.37010633G>A, NC_000013.10:g.37584770G>A, NG_042275.1:g.15093G>A, XM_005266449.5:c.2361C>T, XM_005266449.4:c.2361C>T, XM_005266449.3:c.2361C>T, XM_005266449.2:c.2361C>T, XM_005266449.1:c.2361C>T, XM_005266456.5:c.2325C>T, XM_005266456.4:c.2325C>T, XM_005266456.3:c.2325C>T, XM_005266456.2:c.2325C>T, XM_005266456.1:c.2325C>T, XM_005266458.5:c.2322C>T, XM_005266458.4:c.2322C>T, XM_005266458.3:c.2322C>T, XM_005266458.2:c.2322C>T, XM_005266458.1:c.2322C>T, XM_005266451.5:c.2358C>T, XM_005266451.4:c.2358C>T, XM_005266451.3:c.2358C>T, XM_005266451.2:c.2358C>T, XM_005266451.1:c.2358C>T, XM_005266454.5:c.2325C>T, XM_005266454.4:c.2325C>T, XM_005266454.3:c.2325C>T, XM_005266454.2:c.2325C>T, XM_005266454.1:c.2325C>T, XM_005266457.5:c.2322C>T, XM_005266457.4:c.2322C>T, XM_005266457.3:c.2322C>T, XM_005266457.2:c.2322C>T, XM_005266457.1:c.2322C>T, XM_005266462.5:c.2124C>T, XM_005266462.4:c.2124C>T, XM_005266462.3:c.2124C>T, XM_005266462.2:c.2124C>T, XM_005266462.1:c.2124C>T, XM_005266464.4:c.2088C>T, XM_005266464.3:c.2088C>T, XM_005266464.2:c.2088C>T, XM_005266464.1:c.2088C>T, XM_005266447.3:c.2361C>T, XM_005266447.2:c.2361C>T, XM_005266447.1:c.2361C>T, XM_005266455.3:c.2325C>T, XM_005266455.2:c.2325C>T, XM_005266455.1:c.2325C>T, XM_017020653.3:c.2322C>T, XM_017020653.2:c.2322C>T, XM_017020653.1:c.2322C>T, NM_001014286.3:c.2121C>T, NM_001014286.2:c.2121C>T, XM_017020657.3:c.2085C>T, XM_017020657.2:c.2085C>T, XM_017020657.1:c.2085C>T, XM_017020654.2:c.2088C>T, XM_017020654.1:c.2088C>T, XM_017020655.2:c.2085C>T, XM_017020655.1:c.2085C>T, XM_024449379.2:c.2049C>T, XM_024449379.1:c.2049C>T, XM_047430444.1:c.2358C>T, XM_047430448.1:c.2286C>T, XM_047430445.1:c.2289C>T, XM_047430447.1:c.2286C>T, XM_047430456.1:c.2124C>T, XM_047430457.1:c.2121C>T, XM_047430458.1:c.2088C>T, XM_047430459.1:c.2085C>T, XM_047430460.1:c.2052C>T

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