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Items: 1 to 20 of 527

1.

rs1490762298 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:8452882 (GRCh38)
    11:8474429 (GRCh37)
    Canonical SPDI:
    NC_000011.10:8452881:T:C
    Gene:
    STK33 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000111/1 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.8452882T>C, NC_000011.9:g.8474429T>C, NM_030906.4:c.811A>G, NM_030906.3:c.811A>G, NM_030906.2:c.811A>G, XM_017018155.3:c.811A>G, XM_017018155.2:c.811A>G, XM_017018155.1:c.811A>G, XM_011520290.3:c.811A>G, XM_011520290.2:c.811A>G, XM_011520290.1:c.811A>G, XM_017018144.3:c.811A>G, XM_017018144.2:c.811A>G, XM_017018144.1:c.811A>G, XM_011520297.3:c.688A>G, XM_011520297.2:c.688A>G, XM_011520297.1:c.688A>G, XR_001747939.2:n.3371A>G, XR_001747939.1:n.3379A>G, NM_001352398.2:c.688A>G, NM_001352398.1:c.688A>G, NM_001352397.2:c.688A>G, NM_001352397.1:c.688A>G, NM_001352396.2:c.688A>G, NM_001352396.1:c.688A>G, XM_017018145.2:c.811A>G, XM_017018145.1:c.811A>G, XM_017018146.2:c.811A>G, XM_017018146.1:c.811A>G, NM_001352389.2:c.811A>G, NM_001352389.1:c.811A>G, NM_001352388.2:c.811A>G, NM_001352388.1:c.811A>G, NM_001352391.2:c.811A>G, NM_001352391.1:c.811A>G, NM_001352390.2:c.811A>G, NM_001352390.1:c.811A>G, NM_001352392.2:c.811A>G, NM_001352392.1:c.811A>G, NM_001289061.2:c.811A>G, NM_001289061.1:c.811A>G, NM_001352387.2:c.811A>G, NM_001352387.1:c.811A>G, NM_001352393.2:c.811A>G, NM_001352393.1:c.811A>G, NM_001352394.2:c.688A>G, NM_001352394.1:c.688A>G, XM_017018154.2:c.811A>G, XM_017018154.1:c.811A>G, NM_001352395.2:c.688A>G, NM_001352395.1:c.688A>G, NM_001352399.2:c.811A>G, NM_001352399.1:c.811A>G, NM_001289058.2:c.688A>G, NM_001289058.1:c.688A>G, XM_017018157.2:c.688A>G, XM_017018157.1:c.688A>G, NM_001289059.2:c.250A>G, NM_001289059.1:c.250A>G, XM_047427469.1:c.811A>G, XM_047427471.1:c.811A>G, XM_047427461.1:c.811A>G, XM_047427447.1:c.811A>G, XM_047427450.1:c.811A>G, XM_047427453.1:c.811A>G, XM_047427455.1:c.811A>G, XM_047427460.1:c.811A>G, XM_047427452.1:c.811A>G, XM_047427456.1:c.811A>G, XM_047427454.1:c.811A>G, XM_047427451.1:c.811A>G, XM_047427448.1:c.811A>G, XM_047427457.1:c.811A>G, XM_047427449.1:c.811A>G, XM_047427462.1:c.811A>G, XM_047427470.1:c.811A>G, XM_047427459.1:c.811A>G, XM_047427458.1:c.811A>G, XM_047427475.1:c.811A>G, XM_047427464.1:c.688A>G, XM_047427472.1:c.811A>G, XM_047427467.1:c.688A>G, XM_047427474.1:c.811A>G, XM_047427468.1:c.688A>G, XM_047427466.1:c.688A>G, XM_047427465.1:c.688A>G, XM_047427473.1:c.811A>G, XR_007062494.1:n.1205A>G, XM_047427463.1:c.688A>G, XM_047427476.1:c.688A>G, NP_112168.1:p.Lys271Glu, XP_016873644.1:p.Lys271Glu, XP_011518592.1:p.Lys271Glu, XP_016873633.1:p.Lys271Glu, XP_011518599.1:p.Lys230Glu, NP_001339327.1:p.Lys230Glu, NP_001339326.1:p.Lys230Glu, NP_001339325.1:p.Lys230Glu, XP_016873634.1:p.Lys271Glu, XP_016873635.1:p.Lys271Glu, NP_001339318.1:p.Lys271Glu, NP_001339317.1:p.Lys271Glu, NP_001339320.1:p.Lys271Glu, NP_001339319.1:p.Lys271Glu, NP_001339321.1:p.Lys271Glu, NP_001275990.1:p.Lys271Glu, NP_001339316.1:p.Lys271Glu, NP_001339322.1:p.Lys271Glu, NP_001339323.1:p.Lys230Glu, XP_016873643.1:p.Lys271Glu, NP_001339324.1:p.Lys230Glu, NP_001339328.1:p.Lys271Glu, NP_001275987.1:p.Lys230Glu, XP_016873646.1:p.Lys230Glu, NP_001275988.1:p.Lys84Glu, XP_047283425.1:p.Lys271Glu, XP_047283427.1:p.Lys271Glu, XP_047283417.1:p.Lys271Glu, XP_047283403.1:p.Lys271Glu, XP_047283406.1:p.Lys271Glu, XP_047283409.1:p.Lys271Glu, XP_047283411.1:p.Lys271Glu, XP_047283416.1:p.Lys271Glu, XP_047283408.1:p.Lys271Glu, XP_047283412.1:p.Lys271Glu, XP_047283410.1:p.Lys271Glu, XP_047283407.1:p.Lys271Glu, XP_047283404.1:p.Lys271Glu, XP_047283413.1:p.Lys271Glu, XP_047283405.1:p.Lys271Glu, XP_047283418.1:p.Lys271Glu, XP_047283426.1:p.Lys271Glu, XP_047283415.1:p.Lys271Glu, XP_047283414.1:p.Lys271Glu, XP_047283431.1:p.Lys271Glu, XP_047283420.1:p.Lys230Glu, XP_047283428.1:p.Lys271Glu, XP_047283423.1:p.Lys230Glu, XP_047283430.1:p.Lys271Glu, XP_047283424.1:p.Lys230Glu, XP_047283422.1:p.Lys230Glu, XP_047283421.1:p.Lys230Glu, XP_047283429.1:p.Lys271Glu, XP_047283419.1:p.Lys230Glu, XP_047283432.1:p.Lys230Glu

    2.

    rs1485973228 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      11:8464724 (GRCh38)
      11:8486271 (GRCh37)
      Canonical SPDI:
      NC_000011.10:8464723:TTTTTT:TTTTT
      Gene:
      STK33 (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000011.10:g.8464729del, NC_000011.9:g.8486276del, NM_030906.4:c.438del, NM_030906.3:c.438del, NM_030906.2:c.438del, XM_017018155.3:c.438del, XM_017018155.2:c.438del, XM_017018155.1:c.438del, XM_011520290.3:c.438del, XM_011520290.2:c.438del, XM_011520290.1:c.438del, XM_017018144.3:c.438del, XM_017018144.2:c.438del, XM_017018144.1:c.438del, XM_011520297.3:c.315del, XM_011520297.2:c.315del, XM_011520297.1:c.315del, XR_001747939.2:n.2998del, XR_001747939.1:n.3006del, NM_001352398.2:c.315del, NM_001352398.1:c.315del, NM_001352397.2:c.315del, NM_001352397.1:c.315del, NM_001352396.2:c.315del, NM_001352396.1:c.315del, XM_017018145.2:c.438del, XM_017018145.1:c.438del, XM_017018146.2:c.438del, XM_017018146.1:c.438del, NM_001352389.2:c.438del, NM_001352389.1:c.438del, NM_001352388.2:c.438del, NM_001352388.1:c.438del, NM_001352391.2:c.438del, NM_001352391.1:c.438del, NM_001352390.2:c.438del, NM_001352390.1:c.438del, NM_001352392.2:c.438del, NM_001352392.1:c.438del, NM_001289061.2:c.438del, NM_001289061.1:c.438del, NM_001352387.2:c.438del, NM_001352387.1:c.438del, NM_001352393.2:c.438del, NM_001352393.1:c.438del, NM_001352394.2:c.315del, NM_001352394.1:c.315del, XM_017018154.2:c.438del, XM_017018154.1:c.438del, NM_001352395.2:c.315del, NM_001352395.1:c.315del, NM_001352399.2:c.438del, NM_001352399.1:c.438del, NM_001289058.2:c.315del, NM_001289058.1:c.315del, XM_017018157.2:c.315del, XM_017018157.1:c.315del, NM_001289059.2:c.-124del, NM_001289059.1:c.-124del, XM_047427469.1:c.438del, XM_047427471.1:c.438del, XM_047427461.1:c.438del, XM_047427447.1:c.438del, XM_047427450.1:c.438del, XM_047427453.1:c.438del, XM_047427455.1:c.438del, XM_047427460.1:c.438del, XM_047427452.1:c.438del, XM_047427456.1:c.438del, XM_047427454.1:c.438del, XM_047427451.1:c.438del, XM_047427448.1:c.438del, XM_047427457.1:c.438del, XM_047427449.1:c.438del, XM_047427462.1:c.438del, XM_047427470.1:c.438del, XM_047427459.1:c.438del, XM_047427458.1:c.438del, XM_047427475.1:c.438del, XM_047427464.1:c.315del, XM_047427472.1:c.438del, XM_047427467.1:c.315del, XM_047427474.1:c.438del, XM_047427468.1:c.315del, XM_047427466.1:c.315del, XM_047427465.1:c.315del, XM_047427473.1:c.438del, XR_007062494.1:n.832del, XM_047427463.1:c.315del, XM_047427476.1:c.315del, NP_112168.1:p.Lys146_Val147insTer, XP_016873644.1:p.Lys146_Val147insTer, XP_011518592.1:p.Lys146_Val147insTer, XP_016873633.1:p.Lys146_Val147insTer, XP_011518599.1:p.Lys105_Val106insTer, NP_001339327.1:p.Lys105_Val106insTer, NP_001339326.1:p.Lys105_Val106insTer, NP_001339325.1:p.Lys105_Val106insTer, XP_016873634.1:p.Lys146_Val147insTer, XP_016873635.1:p.Lys146_Val147insTer, NP_001339318.1:p.Lys146_Val147insTer, NP_001339317.1:p.Lys146_Val147insTer, NP_001339320.1:p.Lys146_Val147insTer, NP_001339319.1:p.Lys146_Val147insTer, NP_001339321.1:p.Lys146_Val147insTer, NP_001275990.1:p.Lys146_Val147insTer, NP_001339316.1:p.Lys146_Val147insTer, NP_001339322.1:p.Lys146_Val147insTer, NP_001339323.1:p.Lys105_Val106insTer, XP_016873643.1:p.Lys146_Val147insTer, NP_001339324.1:p.Lys105_Val106insTer, NP_001339328.1:p.Lys146_Val147insTer, NP_001275987.1:p.Lys105_Val106insTer, XP_016873646.1:p.Lys105_Val106insTer, XP_047283425.1:p.Lys146_Val147insTer, XP_047283427.1:p.Lys146_Val147insTer, XP_047283417.1:p.Lys146_Val147insTer, XP_047283403.1:p.Lys146_Val147insTer, XP_047283406.1:p.Lys146_Val147insTer, XP_047283409.1:p.Lys146_Val147insTer, XP_047283411.1:p.Lys146_Val147insTer, XP_047283416.1:p.Lys146_Val147insTer, XP_047283408.1:p.Lys146_Val147insTer, XP_047283412.1:p.Lys146_Val147insTer, XP_047283410.1:p.Lys146_Val147insTer, XP_047283407.1:p.Lys146_Val147insTer, XP_047283404.1:p.Lys146_Val147insTer, XP_047283413.1:p.Lys146_Val147insTer, XP_047283405.1:p.Lys146_Val147insTer, XP_047283418.1:p.Lys146_Val147insTer, XP_047283426.1:p.Lys146_Val147insTer, XP_047283415.1:p.Lys146_Val147insTer, XP_047283414.1:p.Lys146_Val147insTer, XP_047283431.1:p.Lys146_Val147insTer, XP_047283420.1:p.Lys105_Val106insTer, XP_047283428.1:p.Lys146_Val147insTer, XP_047283423.1:p.Lys105_Val106insTer, XP_047283430.1:p.Lys146_Val147insTer, XP_047283424.1:p.Lys105_Val106insTer, XP_047283422.1:p.Lys105_Val106insTer, XP_047283421.1:p.Lys105_Val106insTer, XP_047283429.1:p.Lys146_Val147insTer, XP_047283419.1:p.Lys105_Val106insTer, XP_047283432.1:p.Lys105_Val106insTer

      3.

      rs1485180491 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->CCCTCAA [Show Flanks]
        Chromosome:
        11:8473265 (GRCh38)
        11:8494813 (GRCh37)
        Canonical SPDI:
        NC_000011.10:8473265::CCCTCAA
        Gene:
        STK33 (Varview)
        Functional Consequence:
        coding_sequence_variant,inframe_insertion,stop_gained,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CCCTCAA=0./0 (ALFA)
        HGVS:
        NC_000011.10:g.8473265_8473266insCCCTCAA, NC_000011.9:g.8494812_8494813insCCCTCAA, NM_030906.4:c.236_237insTTGAGGG, NM_030906.3:c.236_237insTTGAGGG, NM_030906.2:c.236_237insTTGAGGG, XM_017018155.3:c.236_237insTTGAGGG, XM_017018155.2:c.236_237insTTGAGGG, XM_017018155.1:c.236_237insTTGAGGG, XM_011520290.3:c.236_237insTTGAGGG, XM_011520290.2:c.236_237insTTGAGGG, XM_011520290.1:c.236_237insTTGAGGG, XM_017018144.3:c.236_237insTTGAGGG, XM_017018144.2:c.236_237insTTGAGGG, XM_017018144.1:c.236_237insTTGAGGG, XM_011520297.3:c.113_114insTTGAGGG, XM_011520297.2:c.113_114insTTGAGGG, XM_011520297.1:c.113_114insTTGAGGG, XR_001747939.2:n.2796_2797insTTGAGGG, XR_001747939.1:n.2804_2805insTTGAGGG, NM_001352398.2:c.113_114insTTGAGGG, NM_001352398.1:c.113_114insTTGAGGG, NM_001352397.2:c.113_114insTTGAGGG, NM_001352397.1:c.113_114insTTGAGGG, NM_001352396.2:c.113_114insTTGAGGG, NM_001352396.1:c.113_114insTTGAGGG, XM_017018145.2:c.236_237insTTGAGGG, XM_017018145.1:c.236_237insTTGAGGG, XM_017018146.2:c.236_237insTTGAGGG, XM_017018146.1:c.236_237insTTGAGGG, NM_001352389.2:c.236_237insTTGAGGG, NM_001352389.1:c.236_237insTTGAGGG, NM_001352388.2:c.236_237insTTGAGGG, NM_001352388.1:c.236_237insTTGAGGG, NM_001352391.2:c.236_237insTTGAGGG, NM_001352391.1:c.236_237insTTGAGGG, NM_001352390.2:c.236_237insTTGAGGG, NM_001352390.1:c.236_237insTTGAGGG, NM_001352392.2:c.236_237insTTGAGGG, NM_001352392.1:c.236_237insTTGAGGG, NM_001289061.2:c.236_237insTTGAGGG, NM_001289061.1:c.236_237insTTGAGGG, NM_001352387.2:c.236_237insTTGAGGG, NM_001352387.1:c.236_237insTTGAGGG, NM_001352393.2:c.236_237insTTGAGGG, NM_001352393.1:c.236_237insTTGAGGG, NM_001352394.2:c.113_114insTTGAGGG, NM_001352394.1:c.113_114insTTGAGGG, XM_017018154.2:c.236_237insTTGAGGG, XM_017018154.1:c.236_237insTTGAGGG, NM_001352395.2:c.113_114insTTGAGGG, NM_001352395.1:c.113_114insTTGAGGG, NM_001352399.2:c.236_237insTTGAGGG, NM_001352399.1:c.236_237insTTGAGGG, NM_001289058.2:c.113_114insTTGAGGG, NM_001289058.1:c.113_114insTTGAGGG, XM_017018157.2:c.113_114insTTGAGGG, XM_017018157.1:c.113_114insTTGAGGG, XM_047427469.1:c.236_237insTTGAGGG, XM_047427471.1:c.236_237insTTGAGGG, XM_047427461.1:c.236_237insTTGAGGG, XM_047427447.1:c.236_237insTTGAGGG, XM_047427450.1:c.236_237insTTGAGGG, XM_047427453.1:c.236_237insTTGAGGG, XM_047427455.1:c.236_237insTTGAGGG, XM_047427460.1:c.236_237insTTGAGGG, XM_047427452.1:c.236_237insTTGAGGG, XM_047427456.1:c.236_237insTTGAGGG, XM_047427454.1:c.236_237insTTGAGGG, XM_047427451.1:c.236_237insTTGAGGG, XM_047427448.1:c.236_237insTTGAGGG, XM_047427457.1:c.236_237insTTGAGGG, XM_047427449.1:c.236_237insTTGAGGG, XM_047427462.1:c.236_237insTTGAGGG, XM_047427470.1:c.236_237insTTGAGGG, XM_047427459.1:c.236_237insTTGAGGG, XM_047427458.1:c.236_237insTTGAGGG, XM_047427475.1:c.236_237insTTGAGGG, XM_047427464.1:c.113_114insTTGAGGG, XM_047427472.1:c.236_237insTTGAGGG, XM_047427467.1:c.113_114insTTGAGGG, XM_047427474.1:c.236_237insTTGAGGG, XM_047427468.1:c.113_114insTTGAGGG, XM_047427466.1:c.113_114insTTGAGGG, XM_047427465.1:c.113_114insTTGAGGG, XM_047427473.1:c.236_237insTTGAGGG, XR_007062494.1:n.630_631insTTGAGGG, XM_047427463.1:c.113_114insTTGAGGG, XM_047427476.1:c.113_114insTTGAGGG, NP_112168.1:p.Ser80_Asn81insTer, XP_016873644.1:p.Ser80_Asn81insTer, XP_011518592.1:p.Ser80_Asn81insTer, XP_016873633.1:p.Ser80_Asn81insTer, XP_011518599.1:p.Ser39_Asn40insTer, NP_001339327.1:p.Ser39_Asn40insTer, NP_001339326.1:p.Ser39_Asn40insTer, NP_001339325.1:p.Ser39_Asn40insTer, XP_016873634.1:p.Ser80_Asn81insTer, XP_016873635.1:p.Ser80_Asn81insTer, NP_001339318.1:p.Ser80_Asn81insTer, NP_001339317.1:p.Ser80_Asn81insTer, NP_001339320.1:p.Ser80_Asn81insTer, NP_001339319.1:p.Ser80_Asn81insTer, NP_001339321.1:p.Ser80_Asn81insTer, NP_001275990.1:p.Ser80_Asn81insTer, NP_001339316.1:p.Ser80_Asn81insTer, NP_001339322.1:p.Ser80_Asn81insTer, NP_001339323.1:p.Ser39_Asn40insTer, XP_016873643.1:p.Ser80_Asn81insTer, NP_001339324.1:p.Ser39_Asn40insTer, NP_001339328.1:p.Ser80_Asn81insTer, NP_001275987.1:p.Ser39_Asn40insTer, XP_016873646.1:p.Ser39_Asn40insTer, XP_047283425.1:p.Ser80_Asn81insTer, XP_047283427.1:p.Ser80_Asn81insTer, XP_047283417.1:p.Ser80_Asn81insTer, XP_047283403.1:p.Ser80_Asn81insTer, XP_047283406.1:p.Ser80_Asn81insTer, XP_047283409.1:p.Ser80_Asn81insTer, XP_047283411.1:p.Ser80_Asn81insTer, XP_047283416.1:p.Ser80_Asn81insTer, XP_047283408.1:p.Ser80_Asn81insTer, XP_047283412.1:p.Ser80_Asn81insTer, XP_047283410.1:p.Ser80_Asn81insTer, XP_047283407.1:p.Ser80_Asn81insTer, XP_047283404.1:p.Ser80_Asn81insTer, XP_047283413.1:p.Ser80_Asn81insTer, XP_047283405.1:p.Ser80_Asn81insTer, XP_047283418.1:p.Ser80_Asn81insTer, XP_047283426.1:p.Ser80_Asn81insTer, XP_047283415.1:p.Ser80_Asn81insTer, XP_047283414.1:p.Ser80_Asn81insTer, XP_047283431.1:p.Ser80_Asn81insTer, XP_047283420.1:p.Ser39_Asn40insTer, XP_047283428.1:p.Ser80_Asn81insTer, XP_047283423.1:p.Ser39_Asn40insTer, XP_047283430.1:p.Ser80_Asn81insTer, XP_047283424.1:p.Ser39_Asn40insTer, XP_047283422.1:p.Ser39_Asn40insTer, XP_047283421.1:p.Ser39_Asn40insTer, XP_047283429.1:p.Ser80_Asn81insTer, XP_047283419.1:p.Ser39_Asn40insTer, XP_047283432.1:p.Ser39_Asn40insTer

        4.

        rs1484735540 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G,T [Show Flanks]
          Chromosome:
          11:8474837 (GRCh38)
          11:8496384 (GRCh37)
          Canonical SPDI:
          NC_000011.10:8474836:A:C,NC_000011.10:8474836:A:G,NC_000011.10:8474836:A:T
          Gene:
          STK33 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000011.10:g.8474837A>C, NC_000011.10:g.8474837A>G, NC_000011.10:g.8474837A>T, NC_000011.9:g.8496384A>C, NC_000011.9:g.8496384A>G, NC_000011.9:g.8496384A>T, NM_030906.4:c.69T>G, NM_030906.4:c.69T>C, NM_030906.4:c.69T>A, NM_030906.3:c.69T>G, NM_030906.3:c.69T>C, NM_030906.3:c.69T>A, NM_030906.2:c.69T>G, NM_030906.2:c.69T>C, NM_030906.2:c.69T>A, XM_017018155.3:c.69T>G, XM_017018155.3:c.69T>C, XM_017018155.3:c.69T>A, XM_017018155.2:c.69T>G, XM_017018155.2:c.69T>C, XM_017018155.2:c.69T>A, XM_017018155.1:c.69T>G, XM_017018155.1:c.69T>C, XM_017018155.1:c.69T>A, XM_011520290.3:c.69T>G, XM_011520290.3:c.69T>C, XM_011520290.3:c.69T>A, XM_011520290.2:c.69T>G, XM_011520290.2:c.69T>C, XM_011520290.2:c.69T>A, XM_011520290.1:c.69T>G, XM_011520290.1:c.69T>C, XM_011520290.1:c.69T>A, XM_017018144.3:c.69T>G, XM_017018144.3:c.69T>C, XM_017018144.3:c.69T>A, XM_017018144.2:c.69T>G, XM_017018144.2:c.69T>C, XM_017018144.2:c.69T>A, XM_017018144.1:c.69T>G, XM_017018144.1:c.69T>C, XM_017018144.1:c.69T>A, XR_001747939.2:n.2629T>G, XR_001747939.2:n.2629T>C, XR_001747939.2:n.2629T>A, XR_001747939.1:n.2637T>G, XR_001747939.1:n.2637T>C, XR_001747939.1:n.2637T>A, XM_017018145.2:c.69T>G, XM_017018145.2:c.69T>C, XM_017018145.2:c.69T>A, XM_017018145.1:c.69T>G, XM_017018145.1:c.69T>C, XM_017018145.1:c.69T>A, XM_017018146.2:c.69T>G, XM_017018146.2:c.69T>C, XM_017018146.2:c.69T>A, XM_017018146.1:c.69T>G, XM_017018146.1:c.69T>C, XM_017018146.1:c.69T>A, NM_001352389.2:c.69T>G, NM_001352389.2:c.69T>C, NM_001352389.2:c.69T>A, NM_001352389.1:c.69T>G, NM_001352389.1:c.69T>C, NM_001352389.1:c.69T>A, NM_001352388.2:c.69T>G, NM_001352388.2:c.69T>C, NM_001352388.2:c.69T>A, NM_001352388.1:c.69T>G, NM_001352388.1:c.69T>C, NM_001352388.1:c.69T>A, NM_001352391.2:c.69T>G, NM_001352391.2:c.69T>C, NM_001352391.2:c.69T>A, NM_001352391.1:c.69T>G, NM_001352391.1:c.69T>C, NM_001352391.1:c.69T>A, NM_001352390.2:c.69T>G, NM_001352390.2:c.69T>C, NM_001352390.2:c.69T>A, NM_001352390.1:c.69T>G, NM_001352390.1:c.69T>C, NM_001352390.1:c.69T>A, NM_001352392.2:c.69T>G, NM_001352392.2:c.69T>C, NM_001352392.2:c.69T>A, NM_001352392.1:c.69T>G, NM_001352392.1:c.69T>C, NM_001352392.1:c.69T>A, NM_001289061.2:c.69T>G, NM_001289061.2:c.69T>C, NM_001289061.2:c.69T>A, NM_001289061.1:c.69T>G, NM_001289061.1:c.69T>C, NM_001289061.1:c.69T>A, NM_001352387.2:c.69T>G, NM_001352387.2:c.69T>C, NM_001352387.2:c.69T>A, NM_001352387.1:c.69T>G, NM_001352387.1:c.69T>C, NM_001352387.1:c.69T>A, NM_001352393.2:c.69T>G, NM_001352393.2:c.69T>C, NM_001352393.2:c.69T>A, NM_001352393.1:c.69T>G, NM_001352393.1:c.69T>C, NM_001352393.1:c.69T>A, XM_017018154.2:c.69T>G, XM_017018154.2:c.69T>C, XM_017018154.2:c.69T>A, XM_017018154.1:c.69T>G, XM_017018154.1:c.69T>C, XM_017018154.1:c.69T>A, NM_001352399.2:c.69T>G, NM_001352399.2:c.69T>C, NM_001352399.2:c.69T>A, NM_001352399.1:c.69T>G, NM_001352399.1:c.69T>C, NM_001352399.1:c.69T>A, XM_047427469.1:c.69T>G, XM_047427469.1:c.69T>C, XM_047427469.1:c.69T>A, XM_047427471.1:c.69T>G, XM_047427471.1:c.69T>C, XM_047427471.1:c.69T>A, XM_047427461.1:c.69T>G, XM_047427461.1:c.69T>C, XM_047427461.1:c.69T>A, XM_047427447.1:c.69T>G, XM_047427447.1:c.69T>C, XM_047427447.1:c.69T>A, XM_047427450.1:c.69T>G, XM_047427450.1:c.69T>C, XM_047427450.1:c.69T>A, XM_047427453.1:c.69T>G, XM_047427453.1:c.69T>C, XM_047427453.1:c.69T>A, XM_047427455.1:c.69T>G, XM_047427455.1:c.69T>C, XM_047427455.1:c.69T>A, XM_047427460.1:c.69T>G, XM_047427460.1:c.69T>C, XM_047427460.1:c.69T>A, XM_047427452.1:c.69T>G, XM_047427452.1:c.69T>C, XM_047427452.1:c.69T>A, XM_047427456.1:c.69T>G, XM_047427456.1:c.69T>C, XM_047427456.1:c.69T>A, XM_047427454.1:c.69T>G, XM_047427454.1:c.69T>C, XM_047427454.1:c.69T>A, XM_047427451.1:c.69T>G, XM_047427451.1:c.69T>C, XM_047427451.1:c.69T>A, XM_047427448.1:c.69T>G, XM_047427448.1:c.69T>C, XM_047427448.1:c.69T>A, XM_047427457.1:c.69T>G, XM_047427457.1:c.69T>C, XM_047427457.1:c.69T>A, XM_047427449.1:c.69T>G, XM_047427449.1:c.69T>C, XM_047427449.1:c.69T>A, XM_047427462.1:c.69T>G, XM_047427462.1:c.69T>C, XM_047427462.1:c.69T>A, XM_047427470.1:c.69T>G, XM_047427470.1:c.69T>C, XM_047427470.1:c.69T>A, XM_047427459.1:c.69T>G, XM_047427459.1:c.69T>C, XM_047427459.1:c.69T>A, XM_047427458.1:c.69T>G, XM_047427458.1:c.69T>C, XM_047427458.1:c.69T>A, XM_047427475.1:c.69T>G, XM_047427475.1:c.69T>C, XM_047427475.1:c.69T>A, XM_047427472.1:c.69T>G, XM_047427472.1:c.69T>C, XM_047427472.1:c.69T>A, XM_047427474.1:c.69T>G, XM_047427474.1:c.69T>C, XM_047427474.1:c.69T>A, XM_047427473.1:c.69T>G, XM_047427473.1:c.69T>C, XM_047427473.1:c.69T>A, XR_007062494.1:n.463T>G, XR_007062494.1:n.463T>C, XR_007062494.1:n.463T>A, NP_112168.1:p.Asp23Glu, NP_112168.1:p.Asp23Glu, XP_016873644.1:p.Asp23Glu, XP_016873644.1:p.Asp23Glu, XP_011518592.1:p.Asp23Glu, XP_011518592.1:p.Asp23Glu, XP_016873633.1:p.Asp23Glu, XP_016873633.1:p.Asp23Glu, XP_016873634.1:p.Asp23Glu, XP_016873634.1:p.Asp23Glu, XP_016873635.1:p.Asp23Glu, XP_016873635.1:p.Asp23Glu, NP_001339318.1:p.Asp23Glu, NP_001339318.1:p.Asp23Glu, NP_001339317.1:p.Asp23Glu, NP_001339317.1:p.Asp23Glu, NP_001339320.1:p.Asp23Glu, NP_001339320.1:p.Asp23Glu, NP_001339319.1:p.Asp23Glu, NP_001339319.1:p.Asp23Glu, NP_001339321.1:p.Asp23Glu, NP_001339321.1:p.Asp23Glu, NP_001275990.1:p.Asp23Glu, NP_001275990.1:p.Asp23Glu, NP_001339316.1:p.Asp23Glu, NP_001339316.1:p.Asp23Glu, NP_001339322.1:p.Asp23Glu, NP_001339322.1:p.Asp23Glu, XP_016873643.1:p.Asp23Glu, XP_016873643.1:p.Asp23Glu, NP_001339328.1:p.Asp23Glu, NP_001339328.1:p.Asp23Glu, XP_047283425.1:p.Asp23Glu, XP_047283425.1:p.Asp23Glu, XP_047283427.1:p.Asp23Glu, XP_047283427.1:p.Asp23Glu, XP_047283417.1:p.Asp23Glu, XP_047283417.1:p.Asp23Glu, XP_047283403.1:p.Asp23Glu, XP_047283403.1:p.Asp23Glu, XP_047283406.1:p.Asp23Glu, XP_047283406.1:p.Asp23Glu, XP_047283409.1:p.Asp23Glu, XP_047283409.1:p.Asp23Glu, XP_047283411.1:p.Asp23Glu, XP_047283411.1:p.Asp23Glu, XP_047283416.1:p.Asp23Glu, XP_047283416.1:p.Asp23Glu, XP_047283408.1:p.Asp23Glu, XP_047283408.1:p.Asp23Glu, XP_047283412.1:p.Asp23Glu, XP_047283412.1:p.Asp23Glu, XP_047283410.1:p.Asp23Glu, XP_047283410.1:p.Asp23Glu, XP_047283407.1:p.Asp23Glu, XP_047283407.1:p.Asp23Glu, XP_047283404.1:p.Asp23Glu, XP_047283404.1:p.Asp23Glu, XP_047283413.1:p.Asp23Glu, XP_047283413.1:p.Asp23Glu, XP_047283405.1:p.Asp23Glu, XP_047283405.1:p.Asp23Glu, XP_047283418.1:p.Asp23Glu, XP_047283418.1:p.Asp23Glu, XP_047283426.1:p.Asp23Glu, XP_047283426.1:p.Asp23Glu, XP_047283415.1:p.Asp23Glu, XP_047283415.1:p.Asp23Glu, XP_047283414.1:p.Asp23Glu, XP_047283414.1:p.Asp23Glu, XP_047283431.1:p.Asp23Glu, XP_047283431.1:p.Asp23Glu, XP_047283428.1:p.Asp23Glu, XP_047283428.1:p.Asp23Glu, XP_047283430.1:p.Asp23Glu, XP_047283430.1:p.Asp23Glu, XP_047283429.1:p.Asp23Glu, XP_047283429.1:p.Asp23Glu

          5.

          rs1482639230 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:8464783 (GRCh38)
            11:8486330 (GRCh37)
            Canonical SPDI:
            NC_000011.10:8464782:A:G
            Gene:
            STK33 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000011.10:g.8464783A>G, NC_000011.9:g.8486330A>G, NM_030906.4:c.379T>C, NM_030906.3:c.379T>C, NM_030906.2:c.379T>C, XM_017018155.3:c.379T>C, XM_017018155.2:c.379T>C, XM_017018155.1:c.379T>C, XM_011520290.3:c.379T>C, XM_011520290.2:c.379T>C, XM_011520290.1:c.379T>C, XM_017018144.3:c.379T>C, XM_017018144.2:c.379T>C, XM_017018144.1:c.379T>C, XM_011520297.3:c.256T>C, XM_011520297.2:c.256T>C, XM_011520297.1:c.256T>C, XR_001747939.2:n.2939T>C, XR_001747939.1:n.2947T>C, NM_001352398.2:c.256T>C, NM_001352398.1:c.256T>C, NM_001352397.2:c.256T>C, NM_001352397.1:c.256T>C, NM_001352396.2:c.256T>C, NM_001352396.1:c.256T>C, XM_017018145.2:c.379T>C, XM_017018145.1:c.379T>C, XM_017018146.2:c.379T>C, XM_017018146.1:c.379T>C, NM_001352389.2:c.379T>C, NM_001352389.1:c.379T>C, NM_001352388.2:c.379T>C, NM_001352388.1:c.379T>C, NM_001352391.2:c.379T>C, NM_001352391.1:c.379T>C, NM_001352390.2:c.379T>C, NM_001352390.1:c.379T>C, NM_001352392.2:c.379T>C, NM_001352392.1:c.379T>C, NM_001289061.2:c.379T>C, NM_001289061.1:c.379T>C, NM_001352387.2:c.379T>C, NM_001352387.1:c.379T>C, NM_001352393.2:c.379T>C, NM_001352393.1:c.379T>C, NM_001352394.2:c.256T>C, NM_001352394.1:c.256T>C, XM_017018154.2:c.379T>C, XM_017018154.1:c.379T>C, NM_001352395.2:c.256T>C, NM_001352395.1:c.256T>C, NM_001352399.2:c.379T>C, NM_001352399.1:c.379T>C, NM_001289058.2:c.256T>C, NM_001289058.1:c.256T>C, XM_017018157.2:c.256T>C, XM_017018157.1:c.256T>C, NM_001289059.2:c.-183T>C, NM_001289059.1:c.-183T>C, XM_047427469.1:c.379T>C, XM_047427471.1:c.379T>C, XM_047427461.1:c.379T>C, XM_047427447.1:c.379T>C, XM_047427450.1:c.379T>C, XM_047427453.1:c.379T>C, XM_047427455.1:c.379T>C, XM_047427460.1:c.379T>C, XM_047427452.1:c.379T>C, XM_047427456.1:c.379T>C, XM_047427454.1:c.379T>C, XM_047427451.1:c.379T>C, XM_047427448.1:c.379T>C, XM_047427457.1:c.379T>C, XM_047427449.1:c.379T>C, XM_047427462.1:c.379T>C, XM_047427470.1:c.379T>C, XM_047427459.1:c.379T>C, XM_047427458.1:c.379T>C, XM_047427475.1:c.379T>C, XM_047427464.1:c.256T>C, XM_047427472.1:c.379T>C, XM_047427467.1:c.256T>C, XM_047427474.1:c.379T>C, XM_047427468.1:c.256T>C, XM_047427466.1:c.256T>C, XM_047427465.1:c.256T>C, XM_047427473.1:c.379T>C, XR_007062494.1:n.773T>C, XM_047427463.1:c.256T>C, XM_047427476.1:c.256T>C, NP_112168.1:p.Phe127Leu, XP_016873644.1:p.Phe127Leu, XP_011518592.1:p.Phe127Leu, XP_016873633.1:p.Phe127Leu, XP_011518599.1:p.Phe86Leu, NP_001339327.1:p.Phe86Leu, NP_001339326.1:p.Phe86Leu, NP_001339325.1:p.Phe86Leu, XP_016873634.1:p.Phe127Leu, XP_016873635.1:p.Phe127Leu, NP_001339318.1:p.Phe127Leu, NP_001339317.1:p.Phe127Leu, NP_001339320.1:p.Phe127Leu, NP_001339319.1:p.Phe127Leu, NP_001339321.1:p.Phe127Leu, NP_001275990.1:p.Phe127Leu, NP_001339316.1:p.Phe127Leu, NP_001339322.1:p.Phe127Leu, NP_001339323.1:p.Phe86Leu, XP_016873643.1:p.Phe127Leu, NP_001339324.1:p.Phe86Leu, NP_001339328.1:p.Phe127Leu, NP_001275987.1:p.Phe86Leu, XP_016873646.1:p.Phe86Leu, XP_047283425.1:p.Phe127Leu, XP_047283427.1:p.Phe127Leu, XP_047283417.1:p.Phe127Leu, XP_047283403.1:p.Phe127Leu, XP_047283406.1:p.Phe127Leu, XP_047283409.1:p.Phe127Leu, XP_047283411.1:p.Phe127Leu, XP_047283416.1:p.Phe127Leu, XP_047283408.1:p.Phe127Leu, XP_047283412.1:p.Phe127Leu, XP_047283410.1:p.Phe127Leu, XP_047283407.1:p.Phe127Leu, XP_047283404.1:p.Phe127Leu, XP_047283413.1:p.Phe127Leu, XP_047283405.1:p.Phe127Leu, XP_047283418.1:p.Phe127Leu, XP_047283426.1:p.Phe127Leu, XP_047283415.1:p.Phe127Leu, XP_047283414.1:p.Phe127Leu, XP_047283431.1:p.Phe127Leu, XP_047283420.1:p.Phe86Leu, XP_047283428.1:p.Phe127Leu, XP_047283423.1:p.Phe86Leu, XP_047283430.1:p.Phe127Leu, XP_047283424.1:p.Phe86Leu, XP_047283422.1:p.Phe86Leu, XP_047283421.1:p.Phe86Leu, XP_047283429.1:p.Phe127Leu, XP_047283419.1:p.Phe86Leu, XP_047283432.1:p.Phe86Leu

            6.

            rs1482376157 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:8457449 (GRCh38)
              11:8478996 (GRCh37)
              Canonical SPDI:
              NC_000011.10:8457448:C:T
              Gene:
              STK33 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000011.10:g.8457449C>T, NC_000011.9:g.8478996C>T, NM_030906.4:c.589G>A, NM_030906.3:c.589G>A, NM_030906.2:c.589G>A, XM_017018155.3:c.589G>A, XM_017018155.2:c.589G>A, XM_017018155.1:c.589G>A, XM_011520290.3:c.589G>A, XM_011520290.2:c.589G>A, XM_011520290.1:c.589G>A, XM_017018144.3:c.589G>A, XM_017018144.2:c.589G>A, XM_017018144.1:c.589G>A, XM_011520297.3:c.466G>A, XM_011520297.2:c.466G>A, XM_011520297.1:c.466G>A, XR_001747939.2:n.3149G>A, XR_001747939.1:n.3157G>A, NM_001352398.2:c.466G>A, NM_001352398.1:c.466G>A, NM_001352397.2:c.466G>A, NM_001352397.1:c.466G>A, NM_001352396.2:c.466G>A, NM_001352396.1:c.466G>A, XM_017018145.2:c.589G>A, XM_017018145.1:c.589G>A, XM_017018146.2:c.589G>A, XM_017018146.1:c.589G>A, NM_001352389.2:c.589G>A, NM_001352389.1:c.589G>A, NM_001352388.2:c.589G>A, NM_001352388.1:c.589G>A, NM_001352391.2:c.589G>A, NM_001352391.1:c.589G>A, NM_001352390.2:c.589G>A, NM_001352390.1:c.589G>A, NM_001352392.2:c.589G>A, NM_001352392.1:c.589G>A, NM_001289061.2:c.589G>A, NM_001289061.1:c.589G>A, NM_001352387.2:c.589G>A, NM_001352387.1:c.589G>A, NM_001352393.2:c.589G>A, NM_001352393.1:c.589G>A, NM_001352394.2:c.466G>A, NM_001352394.1:c.466G>A, XM_017018154.2:c.589G>A, XM_017018154.1:c.589G>A, NM_001352395.2:c.466G>A, NM_001352395.1:c.466G>A, NM_001352399.2:c.589G>A, NM_001352399.1:c.589G>A, NM_001289058.2:c.466G>A, NM_001289058.1:c.466G>A, XM_017018157.2:c.466G>A, XM_017018157.1:c.466G>A, NM_001289059.2:c.28G>A, NM_001289059.1:c.28G>A, XM_047427469.1:c.589G>A, XM_047427471.1:c.589G>A, XM_047427461.1:c.589G>A, XM_047427447.1:c.589G>A, XM_047427450.1:c.589G>A, XM_047427453.1:c.589G>A, XM_047427455.1:c.589G>A, XM_047427460.1:c.589G>A, XM_047427452.1:c.589G>A, XM_047427456.1:c.589G>A, XM_047427454.1:c.589G>A, XM_047427451.1:c.589G>A, XM_047427448.1:c.589G>A, XM_047427457.1:c.589G>A, XM_047427449.1:c.589G>A, XM_047427462.1:c.589G>A, XM_047427470.1:c.589G>A, XM_047427459.1:c.589G>A, XM_047427458.1:c.589G>A, XM_047427475.1:c.589G>A, XM_047427464.1:c.466G>A, XM_047427472.1:c.589G>A, XM_047427467.1:c.466G>A, XM_047427474.1:c.589G>A, XM_047427468.1:c.466G>A, XM_047427466.1:c.466G>A, XM_047427465.1:c.466G>A, XM_047427473.1:c.589G>A, XR_007062494.1:n.983G>A, XM_047427463.1:c.466G>A, XM_047427476.1:c.466G>A, NP_112168.1:p.Asp197Asn, XP_016873644.1:p.Asp197Asn, XP_011518592.1:p.Asp197Asn, XP_016873633.1:p.Asp197Asn, XP_011518599.1:p.Asp156Asn, NP_001339327.1:p.Asp156Asn, NP_001339326.1:p.Asp156Asn, NP_001339325.1:p.Asp156Asn, XP_016873634.1:p.Asp197Asn, XP_016873635.1:p.Asp197Asn, NP_001339318.1:p.Asp197Asn, NP_001339317.1:p.Asp197Asn, NP_001339320.1:p.Asp197Asn, NP_001339319.1:p.Asp197Asn, NP_001339321.1:p.Asp197Asn, NP_001275990.1:p.Asp197Asn, NP_001339316.1:p.Asp197Asn, NP_001339322.1:p.Asp197Asn, NP_001339323.1:p.Asp156Asn, XP_016873643.1:p.Asp197Asn, NP_001339324.1:p.Asp156Asn, NP_001339328.1:p.Asp197Asn, NP_001275987.1:p.Asp156Asn, XP_016873646.1:p.Asp156Asn, NP_001275988.1:p.Asp10Asn, XP_047283425.1:p.Asp197Asn, XP_047283427.1:p.Asp197Asn, XP_047283417.1:p.Asp197Asn, XP_047283403.1:p.Asp197Asn, XP_047283406.1:p.Asp197Asn, XP_047283409.1:p.Asp197Asn, XP_047283411.1:p.Asp197Asn, XP_047283416.1:p.Asp197Asn, XP_047283408.1:p.Asp197Asn, XP_047283412.1:p.Asp197Asn, XP_047283410.1:p.Asp197Asn, XP_047283407.1:p.Asp197Asn, XP_047283404.1:p.Asp197Asn, XP_047283413.1:p.Asp197Asn, XP_047283405.1:p.Asp197Asn, XP_047283418.1:p.Asp197Asn, XP_047283426.1:p.Asp197Asn, XP_047283415.1:p.Asp197Asn, XP_047283414.1:p.Asp197Asn, XP_047283431.1:p.Asp197Asn, XP_047283420.1:p.Asp156Asn, XP_047283428.1:p.Asp197Asn, XP_047283423.1:p.Asp156Asn, XP_047283430.1:p.Asp197Asn, XP_047283424.1:p.Asp156Asn, XP_047283422.1:p.Asp156Asn, XP_047283421.1:p.Asp156Asn, XP_047283429.1:p.Asp197Asn, XP_047283419.1:p.Asp156Asn, XP_047283432.1:p.Asp156Asn

              7.

              rs1477693045 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:8436132 (GRCh38)
                11:8457679 (GRCh37)
                Canonical SPDI:
                NC_000011.10:8436131:C:T
                Gene:
                STK33 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000011.10:g.8436132C>T, NC_000011.9:g.8457679C>T, NM_030906.4:c.955G>A, NM_030906.3:c.955G>A, NM_030906.2:c.955G>A, XM_017018155.3:c.955G>A, XM_017018155.2:c.955G>A, XM_017018155.1:c.955G>A, XM_011520290.3:c.955G>A, XM_011520290.2:c.955G>A, XM_011520290.1:c.955G>A, XM_017018144.3:c.955G>A, XM_017018144.2:c.955G>A, XM_017018144.1:c.955G>A, XM_011520297.3:c.832G>A, XM_011520297.2:c.832G>A, XM_011520297.1:c.832G>A, XR_001747939.2:n.3439G>A, XR_001747939.1:n.3447G>A, NM_001352398.2:c.832G>A, NM_001352398.1:c.832G>A, NM_001352397.2:c.832G>A, NM_001352397.1:c.832G>A, NM_001352396.2:c.832G>A, NM_001352396.1:c.832G>A, XM_017018145.2:c.955G>A, XM_017018145.1:c.955G>A, XM_017018146.2:c.955G>A, XM_017018146.1:c.955G>A, NM_001352389.2:c.955G>A, NM_001352389.1:c.955G>A, NM_001352388.2:c.955G>A, NM_001352388.1:c.955G>A, NM_001352391.2:c.955G>A, NM_001352391.1:c.955G>A, NM_001352390.2:c.955G>A, NM_001352390.1:c.955G>A, NM_001352392.2:c.955G>A, NM_001352392.1:c.955G>A, NM_001289061.2:c.955G>A, NM_001289061.1:c.955G>A, NM_001352387.2:c.955G>A, NM_001352387.1:c.955G>A, NM_001352393.2:c.955G>A, NM_001352393.1:c.955G>A, NM_001352394.2:c.832G>A, NM_001352394.1:c.832G>A, XM_017018154.2:c.955G>A, XM_017018154.1:c.955G>A, NM_001352395.2:c.832G>A, NM_001352395.1:c.832G>A, NM_001352399.2:c.955G>A, NM_001352399.1:c.955G>A, NM_001289058.2:c.832G>A, NM_001289058.1:c.832G>A, XM_017018157.2:c.832G>A, XM_017018157.1:c.832G>A, NM_001289059.2:c.394G>A, NM_001289059.1:c.394G>A, XM_047427469.1:c.955G>A, XM_047427471.1:c.955G>A, XM_047427461.1:c.955G>A, XM_047427447.1:c.955G>A, XM_047427450.1:c.955G>A, XM_047427453.1:c.955G>A, XM_047427455.1:c.955G>A, XM_047427460.1:c.955G>A, XM_047427452.1:c.955G>A, XM_047427456.1:c.955G>A, XM_047427454.1:c.955G>A, XM_047427451.1:c.955G>A, XM_047427448.1:c.955G>A, XM_047427457.1:c.955G>A, XM_047427449.1:c.955G>A, XM_047427462.1:c.955G>A, XM_047427470.1:c.955G>A, XM_047427459.1:c.955G>A, XM_047427458.1:c.955G>A, XM_047427475.1:c.955G>A, XM_047427464.1:c.832G>A, XM_047427472.1:c.955G>A, XM_047427467.1:c.832G>A, XM_047427474.1:c.955G>A, XM_047427468.1:c.832G>A, XM_047427466.1:c.832G>A, XM_047427465.1:c.832G>A, XM_047427473.1:c.955G>A, XR_007062494.1:n.1349G>A, XM_047427463.1:c.832G>A, XM_047427476.1:c.832G>A, NP_112168.1:p.Gly319Arg, XP_016873644.1:p.Gly319Arg, XP_011518592.1:p.Gly319Arg, XP_016873633.1:p.Gly319Arg, XP_011518599.1:p.Gly278Arg, NP_001339327.1:p.Gly278Arg, NP_001339326.1:p.Gly278Arg, NP_001339325.1:p.Gly278Arg, XP_016873634.1:p.Gly319Arg, XP_016873635.1:p.Gly319Arg, NP_001339318.1:p.Gly319Arg, NP_001339317.1:p.Gly319Arg, NP_001339320.1:p.Gly319Arg, NP_001339319.1:p.Gly319Arg, NP_001339321.1:p.Gly319Arg, NP_001275990.1:p.Gly319Arg, NP_001339316.1:p.Gly319Arg, NP_001339322.1:p.Gly319Arg, NP_001339323.1:p.Gly278Arg, XP_016873643.1:p.Gly319Arg, NP_001339324.1:p.Gly278Arg, NP_001339328.1:p.Gly319Arg, NP_001275987.1:p.Gly278Arg, XP_016873646.1:p.Gly278Arg, NP_001275988.1:p.Gly132Arg, XP_047283425.1:p.Gly319Arg, XP_047283427.1:p.Gly319Arg, XP_047283417.1:p.Gly319Arg, XP_047283403.1:p.Gly319Arg, XP_047283406.1:p.Gly319Arg, XP_047283409.1:p.Gly319Arg, XP_047283411.1:p.Gly319Arg, XP_047283416.1:p.Gly319Arg, XP_047283408.1:p.Gly319Arg, XP_047283412.1:p.Gly319Arg, XP_047283410.1:p.Gly319Arg, XP_047283407.1:p.Gly319Arg, XP_047283404.1:p.Gly319Arg, XP_047283413.1:p.Gly319Arg, XP_047283405.1:p.Gly319Arg, XP_047283418.1:p.Gly319Arg, XP_047283426.1:p.Gly319Arg, XP_047283415.1:p.Gly319Arg, XP_047283414.1:p.Gly319Arg, XP_047283431.1:p.Gly319Arg, XP_047283420.1:p.Gly278Arg, XP_047283428.1:p.Gly319Arg, XP_047283423.1:p.Gly278Arg, XP_047283430.1:p.Gly319Arg, XP_047283424.1:p.Gly278Arg, XP_047283422.1:p.Gly278Arg, XP_047283421.1:p.Gly278Arg, XP_047283429.1:p.Gly319Arg, XP_047283419.1:p.Gly278Arg, XP_047283432.1:p.Gly278Arg

                8.

                rs1477000426 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:8461833 (GRCh38)
                  11:8483380 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:8461832:T:C
                  Gene:
                  STK33 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000111/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.8461833T>C, NC_000011.9:g.8483380T>C, NM_030906.4:c.530A>G, NM_030906.3:c.530A>G, NM_030906.2:c.530A>G, XM_017018155.3:c.530A>G, XM_017018155.2:c.530A>G, XM_017018155.1:c.530A>G, XM_011520290.3:c.530A>G, XM_011520290.2:c.530A>G, XM_011520290.1:c.530A>G, XM_017018144.3:c.530A>G, XM_017018144.2:c.530A>G, XM_017018144.1:c.530A>G, XM_011520297.3:c.407A>G, XM_011520297.2:c.407A>G, XM_011520297.1:c.407A>G, XR_001747939.2:n.3090A>G, XR_001747939.1:n.3098A>G, NM_001352398.2:c.407A>G, NM_001352398.1:c.407A>G, NM_001352397.2:c.407A>G, NM_001352397.1:c.407A>G, NM_001352396.2:c.407A>G, NM_001352396.1:c.407A>G, XM_017018145.2:c.530A>G, XM_017018145.1:c.530A>G, XM_017018146.2:c.530A>G, XM_017018146.1:c.530A>G, NM_001352389.2:c.530A>G, NM_001352389.1:c.530A>G, NM_001352388.2:c.530A>G, NM_001352388.1:c.530A>G, NM_001352391.2:c.530A>G, NM_001352391.1:c.530A>G, NM_001352390.2:c.530A>G, NM_001352390.1:c.530A>G, NM_001352392.2:c.530A>G, NM_001352392.1:c.530A>G, NM_001289061.2:c.530A>G, NM_001289061.1:c.530A>G, NM_001352387.2:c.530A>G, NM_001352387.1:c.530A>G, NM_001352393.2:c.530A>G, NM_001352393.1:c.530A>G, NM_001352394.2:c.407A>G, NM_001352394.1:c.407A>G, XM_017018154.2:c.530A>G, XM_017018154.1:c.530A>G, NM_001352395.2:c.407A>G, NM_001352395.1:c.407A>G, NM_001352399.2:c.530A>G, NM_001352399.1:c.530A>G, NM_001289058.2:c.407A>G, NM_001289058.1:c.407A>G, XM_017018157.2:c.407A>G, XM_017018157.1:c.407A>G, NM_001289059.2:c.-32A>G, NM_001289059.1:c.-32A>G, XM_047427469.1:c.530A>G, XM_047427471.1:c.530A>G, XM_047427461.1:c.530A>G, XM_047427447.1:c.530A>G, XM_047427450.1:c.530A>G, XM_047427453.1:c.530A>G, XM_047427455.1:c.530A>G, XM_047427460.1:c.530A>G, XM_047427452.1:c.530A>G, XM_047427456.1:c.530A>G, XM_047427454.1:c.530A>G, XM_047427451.1:c.530A>G, XM_047427448.1:c.530A>G, XM_047427457.1:c.530A>G, XM_047427449.1:c.530A>G, XM_047427462.1:c.530A>G, XM_047427470.1:c.530A>G, XM_047427459.1:c.530A>G, XM_047427458.1:c.530A>G, XM_047427475.1:c.530A>G, XM_047427464.1:c.407A>G, XM_047427472.1:c.530A>G, XM_047427467.1:c.407A>G, XM_047427474.1:c.530A>G, XM_047427468.1:c.407A>G, XM_047427466.1:c.407A>G, XM_047427465.1:c.407A>G, XM_047427473.1:c.530A>G, XR_007062494.1:n.924A>G, XM_047427463.1:c.407A>G, XM_047427476.1:c.407A>G, NP_112168.1:p.His177Arg, XP_016873644.1:p.His177Arg, XP_011518592.1:p.His177Arg, XP_016873633.1:p.His177Arg, XP_011518599.1:p.His136Arg, NP_001339327.1:p.His136Arg, NP_001339326.1:p.His136Arg, NP_001339325.1:p.His136Arg, XP_016873634.1:p.His177Arg, XP_016873635.1:p.His177Arg, NP_001339318.1:p.His177Arg, NP_001339317.1:p.His177Arg, NP_001339320.1:p.His177Arg, NP_001339319.1:p.His177Arg, NP_001339321.1:p.His177Arg, NP_001275990.1:p.His177Arg, NP_001339316.1:p.His177Arg, NP_001339322.1:p.His177Arg, NP_001339323.1:p.His136Arg, XP_016873643.1:p.His177Arg, NP_001339324.1:p.His136Arg, NP_001339328.1:p.His177Arg, NP_001275987.1:p.His136Arg, XP_016873646.1:p.His136Arg, XP_047283425.1:p.His177Arg, XP_047283427.1:p.His177Arg, XP_047283417.1:p.His177Arg, XP_047283403.1:p.His177Arg, XP_047283406.1:p.His177Arg, XP_047283409.1:p.His177Arg, XP_047283411.1:p.His177Arg, XP_047283416.1:p.His177Arg, XP_047283408.1:p.His177Arg, XP_047283412.1:p.His177Arg, XP_047283410.1:p.His177Arg, XP_047283407.1:p.His177Arg, XP_047283404.1:p.His177Arg, XP_047283413.1:p.His177Arg, XP_047283405.1:p.His177Arg, XP_047283418.1:p.His177Arg, XP_047283426.1:p.His177Arg, XP_047283415.1:p.His177Arg, XP_047283414.1:p.His177Arg, XP_047283431.1:p.His177Arg, XP_047283420.1:p.His136Arg, XP_047283428.1:p.His177Arg, XP_047283423.1:p.His136Arg, XP_047283430.1:p.His177Arg, XP_047283424.1:p.His136Arg, XP_047283422.1:p.His136Arg, XP_047283421.1:p.His136Arg, XP_047283429.1:p.His177Arg, XP_047283419.1:p.His136Arg, XP_047283432.1:p.His136Arg

                  9.

                  rs1475049850 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    11:8474738 (GRCh38)
                    11:8496285 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:8474737:T:G
                    Gene:
                    STK33 (Varview)
                    Functional Consequence:
                    intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.8474738T>G, NC_000011.9:g.8496285T>G, NM_030906.4:c.168A>C, NM_030906.3:c.168A>C, NM_030906.2:c.168A>C, XM_017018155.3:c.168A>C, XM_017018155.2:c.168A>C, XM_017018155.1:c.168A>C, XM_011520290.3:c.168A>C, XM_011520290.2:c.168A>C, XM_011520290.1:c.168A>C, XM_017018144.3:c.168A>C, XM_017018144.2:c.168A>C, XM_017018144.1:c.168A>C, XM_011520297.3:c.45A>C, XM_011520297.2:c.45A>C, XM_011520297.1:c.45A>C, XR_001747939.2:n.2728A>C, XR_001747939.1:n.2736A>C, NM_001352398.2:c.45A>C, NM_001352398.1:c.45A>C, NM_001352397.2:c.45A>C, NM_001352397.1:c.45A>C, NM_001352396.2:c.45A>C, NM_001352396.1:c.45A>C, XM_017018145.2:c.168A>C, XM_017018145.1:c.168A>C, XM_017018146.2:c.168A>C, XM_017018146.1:c.168A>C, NM_001352389.2:c.168A>C, NM_001352389.1:c.168A>C, NM_001352388.2:c.168A>C, NM_001352388.1:c.168A>C, NM_001352391.2:c.168A>C, NM_001352391.1:c.168A>C, NM_001352390.2:c.168A>C, NM_001352390.1:c.168A>C, NM_001352392.2:c.168A>C, NM_001352392.1:c.168A>C, NM_001289061.2:c.168A>C, NM_001289061.1:c.168A>C, NM_001352387.2:c.168A>C, NM_001352387.1:c.168A>C, NM_001352393.2:c.168A>C, NM_001352393.1:c.168A>C, NM_001352394.2:c.45A>C, NM_001352394.1:c.45A>C, XM_017018154.2:c.168A>C, XM_017018154.1:c.168A>C, NM_001352395.2:c.45A>C, NM_001352395.1:c.45A>C, NM_001352399.2:c.168A>C, NM_001352399.1:c.168A>C, NM_001289058.2:c.45A>C, NM_001289058.1:c.45A>C, XM_017018157.2:c.45A>C, XM_017018157.1:c.45A>C, XM_047427469.1:c.168A>C, XM_047427471.1:c.168A>C, XM_047427461.1:c.168A>C, XM_047427447.1:c.168A>C, XM_047427450.1:c.168A>C, XM_047427453.1:c.168A>C, XM_047427455.1:c.168A>C, XM_047427460.1:c.168A>C, XM_047427452.1:c.168A>C, XM_047427456.1:c.168A>C, XM_047427454.1:c.168A>C, XM_047427451.1:c.168A>C, XM_047427448.1:c.168A>C, XM_047427457.1:c.168A>C, XM_047427449.1:c.168A>C, XM_047427462.1:c.168A>C, XM_047427470.1:c.168A>C, XM_047427459.1:c.168A>C, XM_047427458.1:c.168A>C, XM_047427475.1:c.168A>C, XM_047427464.1:c.45A>C, XM_047427472.1:c.168A>C, XM_047427467.1:c.45A>C, XM_047427474.1:c.168A>C, XM_047427468.1:c.45A>C, XM_047427466.1:c.45A>C, XM_047427465.1:c.45A>C, XM_047427473.1:c.168A>C, XR_007062494.1:n.562A>C, XM_047427463.1:c.45A>C, XM_047427476.1:c.45A>C

                    10.

                    rs1474762733 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      11:8413506 (GRCh38)
                      11:8435053 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:8413505:C:G,NC_000011.10:8413505:C:T
                      Gene:
                      STK33 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      G=0.000071/1 (TOMMO)
                      HGVS:
                      NC_000011.10:g.8413506C>G, NC_000011.10:g.8413506C>T, NC_000011.9:g.8435053C>G, NC_000011.9:g.8435053C>T, NM_030906.4:c.1333G>C, NM_030906.4:c.1333G>A, NM_030906.3:c.1333G>C, NM_030906.3:c.1333G>A, NM_030906.2:c.1333G>C, NM_030906.2:c.1333G>A, XM_017018155.3:c.1333G>C, XM_017018155.3:c.1333G>A, XM_017018155.2:c.1333G>C, XM_017018155.2:c.1333G>A, XM_017018155.1:c.1333G>C, XM_017018155.1:c.1333G>A, XM_011520290.3:c.1333G>C, XM_011520290.3:c.1333G>A, XM_011520290.2:c.1333G>C, XM_011520290.2:c.1333G>A, XM_011520290.1:c.1333G>C, XM_011520290.1:c.1333G>A, XM_017018144.3:c.1333G>C, XM_017018144.3:c.1333G>A, XM_017018144.2:c.1333G>C, XM_017018144.2:c.1333G>A, XM_017018144.1:c.1333G>C, XM_017018144.1:c.1333G>A, XM_011520297.3:c.1210G>C, XM_011520297.3:c.1210G>A, XM_011520297.2:c.1210G>C, XM_011520297.2:c.1210G>A, XM_011520297.1:c.1210G>C, XM_011520297.1:c.1210G>A, XM_017018145.2:c.1333G>C, XM_017018145.2:c.1333G>A, XM_017018145.1:c.1333G>C, XM_017018145.1:c.1333G>A, XM_017018146.2:c.1333G>C, XM_017018146.2:c.1333G>A, XM_017018146.1:c.1333G>C, XM_017018146.1:c.1333G>A, NM_001352389.2:c.1333G>C, NM_001352389.2:c.1333G>A, NM_001352389.1:c.1333G>C, NM_001352389.1:c.1333G>A, NM_001352388.2:c.1333G>C, NM_001352388.2:c.1333G>A, NM_001352388.1:c.1333G>C, NM_001352388.1:c.1333G>A, NM_001352391.2:c.1333G>C, NM_001352391.2:c.1333G>A, NM_001352391.1:c.1333G>C, NM_001352391.1:c.1333G>A, NM_001352390.2:c.1333G>C, NM_001352390.2:c.1333G>A, NM_001352390.1:c.1333G>C, NM_001352390.1:c.1333G>A, NM_001352392.2:c.1333G>C, NM_001352392.2:c.1333G>A, NM_001352392.1:c.1333G>C, NM_001352392.1:c.1333G>A, NM_001289061.2:c.1333G>C, NM_001289061.2:c.1333G>A, NM_001289061.1:c.1333G>C, NM_001289061.1:c.1333G>A, NM_001352387.2:c.1333G>C, NM_001352387.2:c.1333G>A, NM_001352387.1:c.1333G>C, NM_001352387.1:c.1333G>A, NM_001352393.2:c.1333G>C, NM_001352393.2:c.1333G>A, NM_001352393.1:c.1333G>C, NM_001352393.1:c.1333G>A, NM_001352394.2:c.1210G>C, NM_001352394.2:c.1210G>A, NM_001352394.1:c.1210G>C, NM_001352394.1:c.1210G>A, XM_017018154.2:c.1333G>C, XM_017018154.2:c.1333G>A, XM_017018154.1:c.1333G>C, XM_017018154.1:c.1333G>A, NM_001352395.2:c.1210G>C, NM_001352395.2:c.1210G>A, NM_001352395.1:c.1210G>C, NM_001352395.1:c.1210G>A, NM_001289058.2:c.1210G>C, NM_001289058.2:c.1210G>A, NM_001289058.1:c.1210G>C, NM_001289058.1:c.1210G>A, XM_017018157.2:c.1210G>C, XM_017018157.2:c.1210G>A, XM_017018157.1:c.1210G>C, XM_017018157.1:c.1210G>A, NM_001289059.2:c.772G>C, NM_001289059.2:c.772G>A, NM_001289059.1:c.772G>C, NM_001289059.1:c.772G>A, XM_047427469.1:c.1333G>C, XM_047427469.1:c.1333G>A, XM_047427461.1:c.1333G>C, XM_047427461.1:c.1333G>A, XM_047427447.1:c.1333G>C, XM_047427447.1:c.1333G>A, XM_047427450.1:c.1333G>C, XM_047427450.1:c.1333G>A, XM_047427453.1:c.1333G>C, XM_047427453.1:c.1333G>A, XM_047427455.1:c.1333G>C, XM_047427455.1:c.1333G>A, XM_047427460.1:c.1333G>C, XM_047427460.1:c.1333G>A, XM_047427452.1:c.1333G>C, XM_047427452.1:c.1333G>A, XM_047427456.1:c.1333G>C, XM_047427456.1:c.1333G>A, XM_047427454.1:c.1333G>C, XM_047427454.1:c.1333G>A, XM_047427451.1:c.1333G>C, XM_047427451.1:c.1333G>A, XM_047427448.1:c.1333G>C, XM_047427448.1:c.1333G>A, XM_047427457.1:c.1333G>C, XM_047427457.1:c.1333G>A, XM_047427449.1:c.1333G>C, XM_047427449.1:c.1333G>A, XM_047427462.1:c.1333G>C, XM_047427462.1:c.1333G>A, XM_047427459.1:c.1333G>C, XM_047427459.1:c.1333G>A, XM_047427458.1:c.1333G>C, XM_047427458.1:c.1333G>A, XM_047427464.1:c.1210G>C, XM_047427464.1:c.1210G>A, XM_047427467.1:c.1210G>C, XM_047427467.1:c.1210G>A, XM_047427468.1:c.1210G>C, XM_047427468.1:c.1210G>A, XM_047427466.1:c.1210G>C, XM_047427466.1:c.1210G>A, XM_047427465.1:c.1210G>C, XM_047427465.1:c.1210G>A, XR_007062494.1:n.1727G>C, XR_007062494.1:n.1727G>A, XM_047427463.1:c.1210G>C, XM_047427463.1:c.1210G>A, NP_112168.1:p.Glu445Gln, NP_112168.1:p.Glu445Lys, XP_016873644.1:p.Glu445Gln, XP_016873644.1:p.Glu445Lys, XP_011518592.1:p.Glu445Gln, XP_011518592.1:p.Glu445Lys, XP_016873633.1:p.Glu445Gln, XP_016873633.1:p.Glu445Lys, XP_011518599.1:p.Glu404Gln, XP_011518599.1:p.Glu404Lys, XP_016873634.1:p.Glu445Gln, XP_016873634.1:p.Glu445Lys, XP_016873635.1:p.Glu445Gln, XP_016873635.1:p.Glu445Lys, NP_001339318.1:p.Glu445Gln, NP_001339318.1:p.Glu445Lys, NP_001339317.1:p.Glu445Gln, NP_001339317.1:p.Glu445Lys, NP_001339320.1:p.Glu445Gln, NP_001339320.1:p.Glu445Lys, NP_001339319.1:p.Glu445Gln, NP_001339319.1:p.Glu445Lys, NP_001339321.1:p.Glu445Gln, NP_001339321.1:p.Glu445Lys, NP_001275990.1:p.Glu445Gln, NP_001275990.1:p.Glu445Lys, NP_001339316.1:p.Glu445Gln, NP_001339316.1:p.Glu445Lys, NP_001339322.1:p.Glu445Gln, NP_001339322.1:p.Glu445Lys, NP_001339323.1:p.Glu404Gln, NP_001339323.1:p.Glu404Lys, XP_016873643.1:p.Glu445Gln, XP_016873643.1:p.Glu445Lys, NP_001339324.1:p.Glu404Gln, NP_001339324.1:p.Glu404Lys, NP_001275987.1:p.Glu404Gln, NP_001275987.1:p.Glu404Lys, XP_016873646.1:p.Glu404Gln, XP_016873646.1:p.Glu404Lys, NP_001275988.1:p.Glu258Gln, NP_001275988.1:p.Glu258Lys, XP_047283425.1:p.Glu445Gln, XP_047283425.1:p.Glu445Lys, XP_047283417.1:p.Glu445Gln, XP_047283417.1:p.Glu445Lys, XP_047283403.1:p.Glu445Gln, XP_047283403.1:p.Glu445Lys, XP_047283406.1:p.Glu445Gln, XP_047283406.1:p.Glu445Lys, XP_047283409.1:p.Glu445Gln, XP_047283409.1:p.Glu445Lys, XP_047283411.1:p.Glu445Gln, XP_047283411.1:p.Glu445Lys, XP_047283416.1:p.Glu445Gln, XP_047283416.1:p.Glu445Lys, XP_047283408.1:p.Glu445Gln, XP_047283408.1:p.Glu445Lys, XP_047283412.1:p.Glu445Gln, XP_047283412.1:p.Glu445Lys, XP_047283410.1:p.Glu445Gln, XP_047283410.1:p.Glu445Lys, XP_047283407.1:p.Glu445Gln, XP_047283407.1:p.Glu445Lys, XP_047283404.1:p.Glu445Gln, XP_047283404.1:p.Glu445Lys, XP_047283413.1:p.Glu445Gln, XP_047283413.1:p.Glu445Lys, XP_047283405.1:p.Glu445Gln, XP_047283405.1:p.Glu445Lys, XP_047283418.1:p.Glu445Gln, XP_047283418.1:p.Glu445Lys, XP_047283415.1:p.Glu445Gln, XP_047283415.1:p.Glu445Lys, XP_047283414.1:p.Glu445Gln, XP_047283414.1:p.Glu445Lys, XP_047283420.1:p.Glu404Gln, XP_047283420.1:p.Glu404Lys, XP_047283423.1:p.Glu404Gln, XP_047283423.1:p.Glu404Lys, XP_047283424.1:p.Glu404Gln, XP_047283424.1:p.Glu404Lys, XP_047283422.1:p.Glu404Gln, XP_047283422.1:p.Glu404Lys, XP_047283421.1:p.Glu404Gln, XP_047283421.1:p.Glu404Lys, XP_047283419.1:p.Glu404Gln, XP_047283419.1:p.Glu404Lys

                      11.

                      rs1473869055 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:8392685 (GRCh38)
                        11:8414232 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:8392684:G:A
                        Gene:
                        STK33 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.8392685G>A, NC_000011.9:g.8414232G>A, NM_030906.4:c.1370C>T, NM_030906.3:c.1370C>T, NM_030906.2:c.1370C>T, XM_017018155.3:c.1370C>T, XM_017018155.2:c.1370C>T, XM_017018155.1:c.1370C>T, XM_011520290.3:c.1370C>T, XM_011520290.2:c.1370C>T, XM_011520290.1:c.1370C>T, XM_017018144.3:c.1370C>T, XM_017018144.2:c.1370C>T, XM_017018144.1:c.1370C>T, XM_011520297.3:c.1247C>T, XM_011520297.2:c.1247C>T, XM_011520297.1:c.1247C>T, XM_017018145.2:c.1370C>T, XM_017018145.1:c.1370C>T, XM_017018146.2:c.1370C>T, XM_017018146.1:c.1370C>T, NM_001352389.2:c.1370C>T, NM_001352389.1:c.1370C>T, NM_001352388.2:c.1370C>T, NM_001352388.1:c.1370C>T, NM_001352391.2:c.1370C>T, NM_001352391.1:c.1370C>T, NM_001352390.2:c.1370C>T, NM_001352390.1:c.1370C>T, NM_001352392.2:c.1370C>T, NM_001352392.1:c.1370C>T, NM_001289061.2:c.1370C>T, NM_001289061.1:c.1370C>T, NM_001352387.2:c.1370C>T, NM_001352387.1:c.1370C>T, NM_001352393.2:c.1370C>T, NM_001352393.1:c.1370C>T, NM_001352394.2:c.1247C>T, NM_001352394.1:c.1247C>T, XM_017018154.2:c.1370C>T, XM_017018154.1:c.1370C>T, NM_001352395.2:c.1247C>T, NM_001352395.1:c.1247C>T, NM_001352399.2:c.1172C>T, NM_001352399.1:c.1172C>T, NM_001289058.2:c.1247C>T, NM_001289058.1:c.1247C>T, XM_017018157.2:c.1247C>T, XM_017018157.1:c.1247C>T, NM_001289059.2:c.809C>T, NM_001289059.1:c.809C>T, XM_047427471.1:c.1172C>T, XM_047427461.1:c.1370C>T, XM_047427447.1:c.1370C>T, XM_047427450.1:c.1370C>T, XM_047427453.1:c.1370C>T, XM_047427455.1:c.1370C>T, XM_047427460.1:c.1370C>T, XM_047427452.1:c.1370C>T, XM_047427456.1:c.1370C>T, XM_047427454.1:c.1370C>T, XM_047427451.1:c.1370C>T, XM_047427448.1:c.1370C>T, XM_047427457.1:c.1370C>T, XM_047427449.1:c.1370C>T, XM_047427462.1:c.1370C>T, XM_047427470.1:c.1172C>T, XM_047427459.1:c.1370C>T, XM_047427458.1:c.1370C>T, XM_047427475.1:c.1172C>T, XM_047427464.1:c.1247C>T, XM_047427472.1:c.1172C>T, XM_047427467.1:c.1247C>T, XM_047427474.1:c.1172C>T, XM_047427468.1:c.1247C>T, XM_047427466.1:c.1247C>T, XM_047427465.1:c.1247C>T, XM_047427473.1:c.1172C>T, XM_047427463.1:c.1247C>T, XM_047427476.1:c.1049C>T, NP_112168.1:p.Pro457Leu, XP_016873644.1:p.Pro457Leu, XP_011518592.1:p.Pro457Leu, XP_016873633.1:p.Pro457Leu, XP_011518599.1:p.Pro416Leu, XP_016873634.1:p.Pro457Leu, XP_016873635.1:p.Pro457Leu, NP_001339318.1:p.Pro457Leu, NP_001339317.1:p.Pro457Leu, NP_001339320.1:p.Pro457Leu, NP_001339319.1:p.Pro457Leu, NP_001339321.1:p.Pro457Leu, NP_001275990.1:p.Pro457Leu, NP_001339316.1:p.Pro457Leu, NP_001339322.1:p.Pro457Leu, NP_001339323.1:p.Pro416Leu, XP_016873643.1:p.Pro457Leu, NP_001339324.1:p.Pro416Leu, NP_001339328.1:p.Pro391Leu, NP_001275987.1:p.Pro416Leu, XP_016873646.1:p.Pro416Leu, NP_001275988.1:p.Pro270Leu, XP_047283427.1:p.Pro391Leu, XP_047283417.1:p.Pro457Leu, XP_047283403.1:p.Pro457Leu, XP_047283406.1:p.Pro457Leu, XP_047283409.1:p.Pro457Leu, XP_047283411.1:p.Pro457Leu, XP_047283416.1:p.Pro457Leu, XP_047283408.1:p.Pro457Leu, XP_047283412.1:p.Pro457Leu, XP_047283410.1:p.Pro457Leu, XP_047283407.1:p.Pro457Leu, XP_047283404.1:p.Pro457Leu, XP_047283413.1:p.Pro457Leu, XP_047283405.1:p.Pro457Leu, XP_047283418.1:p.Pro457Leu, XP_047283426.1:p.Pro391Leu, XP_047283415.1:p.Pro457Leu, XP_047283414.1:p.Pro457Leu, XP_047283431.1:p.Pro391Leu, XP_047283420.1:p.Pro416Leu, XP_047283428.1:p.Pro391Leu, XP_047283423.1:p.Pro416Leu, XP_047283430.1:p.Pro391Leu, XP_047283424.1:p.Pro416Leu, XP_047283422.1:p.Pro416Leu, XP_047283421.1:p.Pro416Leu, XP_047283429.1:p.Pro391Leu, XP_047283419.1:p.Pro416Leu, XP_047283432.1:p.Pro350Leu

                        12.

                        rs1471549057 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TTG>- [Show Flanks]
                          Chromosome:
                          11:8473270 (GRCh38)
                          11:8494817 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:8473269:TTG:
                          Gene:
                          STK33 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,inframe_indel,coding_sequence_variant,stop_gained
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:
                          NC_000011.10:g.8473270_8473272del, NC_000011.9:g.8494817_8494819del, NM_030906.4:c.230_232del, NM_030906.3:c.230_232del, NM_030906.2:c.230_232del, XM_017018155.3:c.230_232del, XM_017018155.2:c.230_232del, XM_017018155.1:c.230_232del, XM_011520290.3:c.230_232del, XM_011520290.2:c.230_232del, XM_011520290.1:c.230_232del, XM_017018144.3:c.230_232del, XM_017018144.2:c.230_232del, XM_017018144.1:c.230_232del, XM_011520297.3:c.107_109del, XM_011520297.2:c.107_109del, XM_011520297.1:c.107_109del, XR_001747939.2:n.2790_2792del, XR_001747939.1:n.2798_2800del, NM_001352398.2:c.107_109del, NM_001352398.1:c.107_109del, NM_001352397.2:c.107_109del, NM_001352397.1:c.107_109del, NM_001352396.2:c.107_109del, NM_001352396.1:c.107_109del, XM_017018145.2:c.230_232del, XM_017018145.1:c.230_232del, XM_017018146.2:c.230_232del, XM_017018146.1:c.230_232del, NM_001352389.2:c.230_232del, NM_001352389.1:c.230_232del, NM_001352388.2:c.230_232del, NM_001352388.1:c.230_232del, NM_001352391.2:c.230_232del, NM_001352391.1:c.230_232del, NM_001352390.2:c.230_232del, NM_001352390.1:c.230_232del, NM_001352392.2:c.230_232del, NM_001352392.1:c.230_232del, NM_001289061.2:c.230_232del, NM_001289061.1:c.230_232del, NM_001352387.2:c.230_232del, NM_001352387.1:c.230_232del, NM_001352393.2:c.230_232del, NM_001352393.1:c.230_232del, NM_001352394.2:c.107_109del, NM_001352394.1:c.107_109del, XM_017018154.2:c.230_232del, XM_017018154.1:c.230_232del, NM_001352395.2:c.107_109del, NM_001352395.1:c.107_109del, NM_001352399.2:c.230_232del, NM_001352399.1:c.230_232del, NM_001289058.2:c.107_109del, NM_001289058.1:c.107_109del, XM_017018157.2:c.107_109del, XM_017018157.1:c.107_109del, XM_047427469.1:c.230_232del, XM_047427471.1:c.230_232del, XM_047427461.1:c.230_232del, XM_047427447.1:c.230_232del, XM_047427450.1:c.230_232del, XM_047427453.1:c.230_232del, XM_047427455.1:c.230_232del, XM_047427460.1:c.230_232del, XM_047427452.1:c.230_232del, XM_047427456.1:c.230_232del, XM_047427454.1:c.230_232del, XM_047427451.1:c.230_232del, XM_047427448.1:c.230_232del, XM_047427457.1:c.230_232del, XM_047427449.1:c.230_232del, XM_047427462.1:c.230_232del, XM_047427470.1:c.230_232del, XM_047427459.1:c.230_232del, XM_047427458.1:c.230_232del, XM_047427475.1:c.230_232del, XM_047427464.1:c.107_109del, XM_047427472.1:c.230_232del, XM_047427467.1:c.107_109del, XM_047427474.1:c.230_232del, XM_047427468.1:c.107_109del, XM_047427466.1:c.107_109del, XM_047427465.1:c.107_109del, XM_047427473.1:c.230_232del, XR_007062494.1:n.624_626del, XM_047427463.1:c.107_109del, XM_047427476.1:c.107_109del, NP_112168.1:p.Ser77_Arg78delinsTer, XP_016873644.1:p.Ser77_Arg78delinsTer, XP_011518592.1:p.Ser77_Arg78delinsTer, XP_016873633.1:p.Ser77_Arg78delinsTer, XP_011518599.1:p.Ser36_Arg37delinsTer, NP_001339327.1:p.Ser36_Arg37delinsTer, NP_001339326.1:p.Ser36_Arg37delinsTer, NP_001339325.1:p.Ser36_Arg37delinsTer, XP_016873634.1:p.Ser77_Arg78delinsTer, XP_016873635.1:p.Ser77_Arg78delinsTer, NP_001339318.1:p.Ser77_Arg78delinsTer, NP_001339317.1:p.Ser77_Arg78delinsTer, NP_001339320.1:p.Ser77_Arg78delinsTer, NP_001339319.1:p.Ser77_Arg78delinsTer, NP_001339321.1:p.Ser77_Arg78delinsTer, NP_001275990.1:p.Ser77_Arg78delinsTer, NP_001339316.1:p.Ser77_Arg78delinsTer, NP_001339322.1:p.Ser77_Arg78delinsTer, NP_001339323.1:p.Ser36_Arg37delinsTer, XP_016873643.1:p.Ser77_Arg78delinsTer, NP_001339324.1:p.Ser36_Arg37delinsTer, NP_001339328.1:p.Ser77_Arg78delinsTer, NP_001275987.1:p.Ser36_Arg37delinsTer, XP_016873646.1:p.Ser36_Arg37delinsTer, XP_047283425.1:p.Ser77_Arg78delinsTer, XP_047283427.1:p.Ser77_Arg78delinsTer, XP_047283417.1:p.Ser77_Arg78delinsTer, XP_047283403.1:p.Ser77_Arg78delinsTer, XP_047283406.1:p.Ser77_Arg78delinsTer, XP_047283409.1:p.Ser77_Arg78delinsTer, XP_047283411.1:p.Ser77_Arg78delinsTer, XP_047283416.1:p.Ser77_Arg78delinsTer, XP_047283408.1:p.Ser77_Arg78delinsTer, XP_047283412.1:p.Ser77_Arg78delinsTer, XP_047283410.1:p.Ser77_Arg78delinsTer, XP_047283407.1:p.Ser77_Arg78delinsTer, XP_047283404.1:p.Ser77_Arg78delinsTer, XP_047283413.1:p.Ser77_Arg78delinsTer, XP_047283405.1:p.Ser77_Arg78delinsTer, XP_047283418.1:p.Ser77_Arg78delinsTer, XP_047283426.1:p.Ser77_Arg78delinsTer, XP_047283415.1:p.Ser77_Arg78delinsTer, XP_047283414.1:p.Ser77_Arg78delinsTer, XP_047283431.1:p.Ser77_Arg78delinsTer, XP_047283420.1:p.Ser36_Arg37delinsTer, XP_047283428.1:p.Ser77_Arg78delinsTer, XP_047283423.1:p.Ser36_Arg37delinsTer, XP_047283430.1:p.Ser77_Arg78delinsTer, XP_047283424.1:p.Ser36_Arg37delinsTer, XP_047283422.1:p.Ser36_Arg37delinsTer, XP_047283421.1:p.Ser36_Arg37delinsTer, XP_047283429.1:p.Ser77_Arg78delinsTer, XP_047283419.1:p.Ser36_Arg37delinsTer, XP_047283432.1:p.Ser36_Arg37delinsTer

                          13.

                          rs1467592777 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            11:8392657 (GRCh38)
                            11:8414204 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:8392656:C:G
                            Gene:
                            STK33 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000011.10:g.8392657C>G, NC_000011.9:g.8414204C>G, NM_030906.4:c.1398G>C, NM_030906.3:c.1398G>C, NM_030906.2:c.1398G>C, XM_017018155.3:c.1398G>C, XM_017018155.2:c.1398G>C, XM_017018155.1:c.1398G>C, XM_011520290.3:c.1398G>C, XM_011520290.2:c.1398G>C, XM_011520290.1:c.1398G>C, XM_017018144.3:c.1398G>C, XM_017018144.2:c.1398G>C, XM_017018144.1:c.1398G>C, XM_011520297.3:c.1275G>C, XM_011520297.2:c.1275G>C, XM_011520297.1:c.1275G>C, XM_017018145.2:c.1398G>C, XM_017018145.1:c.1398G>C, XM_017018146.2:c.1398G>C, XM_017018146.1:c.1398G>C, NM_001352389.2:c.1398G>C, NM_001352389.1:c.1398G>C, NM_001352388.2:c.1398G>C, NM_001352388.1:c.1398G>C, NM_001352391.2:c.1398G>C, NM_001352391.1:c.1398G>C, NM_001352390.2:c.1398G>C, NM_001352390.1:c.1398G>C, NM_001352392.2:c.1398G>C, NM_001352392.1:c.1398G>C, NM_001289061.2:c.1398G>C, NM_001289061.1:c.1398G>C, NM_001352387.2:c.1398G>C, NM_001352387.1:c.1398G>C, NM_001352393.2:c.1398G>C, NM_001352393.1:c.1398G>C, NM_001352394.2:c.1275G>C, NM_001352394.1:c.1275G>C, XM_017018154.2:c.1398G>C, XM_017018154.1:c.1398G>C, NM_001352395.2:c.1275G>C, NM_001352395.1:c.1275G>C, NM_001352399.2:c.1200G>C, NM_001352399.1:c.1200G>C, NM_001289058.2:c.1275G>C, NM_001289058.1:c.1275G>C, XM_017018157.2:c.1275G>C, XM_017018157.1:c.1275G>C, NM_001289059.2:c.837G>C, NM_001289059.1:c.837G>C, XM_047427471.1:c.1200G>C, XM_047427461.1:c.1398G>C, XM_047427447.1:c.1398G>C, XM_047427450.1:c.1398G>C, XM_047427453.1:c.1398G>C, XM_047427455.1:c.1398G>C, XM_047427460.1:c.1398G>C, XM_047427452.1:c.1398G>C, XM_047427456.1:c.1398G>C, XM_047427454.1:c.1398G>C, XM_047427451.1:c.1398G>C, XM_047427448.1:c.1398G>C, XM_047427457.1:c.1398G>C, XM_047427449.1:c.1398G>C, XM_047427462.1:c.1398G>C, XM_047427470.1:c.1200G>C, XM_047427459.1:c.1398G>C, XM_047427458.1:c.1398G>C, XM_047427475.1:c.1200G>C, XM_047427464.1:c.1275G>C, XM_047427472.1:c.1200G>C, XM_047427467.1:c.1275G>C, XM_047427474.1:c.1200G>C, XM_047427468.1:c.1275G>C, XM_047427466.1:c.1275G>C, XM_047427465.1:c.1275G>C, XM_047427473.1:c.1200G>C, XM_047427463.1:c.1275G>C, XM_047427476.1:c.1077G>C, NP_112168.1:p.Met466Ile, XP_016873644.1:p.Met466Ile, XP_011518592.1:p.Met466Ile, XP_016873633.1:p.Met466Ile, XP_011518599.1:p.Met425Ile, XP_016873634.1:p.Met466Ile, XP_016873635.1:p.Met466Ile, NP_001339318.1:p.Met466Ile, NP_001339317.1:p.Met466Ile, NP_001339320.1:p.Met466Ile, NP_001339319.1:p.Met466Ile, NP_001339321.1:p.Met466Ile, NP_001275990.1:p.Met466Ile, NP_001339316.1:p.Met466Ile, NP_001339322.1:p.Met466Ile, NP_001339323.1:p.Met425Ile, XP_016873643.1:p.Met466Ile, NP_001339324.1:p.Met425Ile, NP_001339328.1:p.Met400Ile, NP_001275987.1:p.Met425Ile, XP_016873646.1:p.Met425Ile, NP_001275988.1:p.Met279Ile, XP_047283427.1:p.Met400Ile, XP_047283417.1:p.Met466Ile, XP_047283403.1:p.Met466Ile, XP_047283406.1:p.Met466Ile, XP_047283409.1:p.Met466Ile, XP_047283411.1:p.Met466Ile, XP_047283416.1:p.Met466Ile, XP_047283408.1:p.Met466Ile, XP_047283412.1:p.Met466Ile, XP_047283410.1:p.Met466Ile, XP_047283407.1:p.Met466Ile, XP_047283404.1:p.Met466Ile, XP_047283413.1:p.Met466Ile, XP_047283405.1:p.Met466Ile, XP_047283418.1:p.Met466Ile, XP_047283426.1:p.Met400Ile, XP_047283415.1:p.Met466Ile, XP_047283414.1:p.Met466Ile, XP_047283431.1:p.Met400Ile, XP_047283420.1:p.Met425Ile, XP_047283428.1:p.Met400Ile, XP_047283423.1:p.Met425Ile, XP_047283430.1:p.Met400Ile, XP_047283424.1:p.Met425Ile, XP_047283422.1:p.Met425Ile, XP_047283421.1:p.Met425Ile, XP_047283429.1:p.Met400Ile, XP_047283419.1:p.Met425Ile, XP_047283432.1:p.Met359Ile

                            14.

                            rs1466875516 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:8413585 (GRCh38)
                              11:8435132 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:8413584:C:T
                              Gene:
                              STK33 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.8413585C>T, NC_000011.9:g.8435132C>T, NM_030906.4:c.1254G>A, NM_030906.3:c.1254G>A, NM_030906.2:c.1254G>A, XM_017018155.3:c.1254G>A, XM_017018155.2:c.1254G>A, XM_017018155.1:c.1254G>A, XM_011520290.3:c.1254G>A, XM_011520290.2:c.1254G>A, XM_011520290.1:c.1254G>A, XM_017018144.3:c.1254G>A, XM_017018144.2:c.1254G>A, XM_017018144.1:c.1254G>A, XM_011520297.3:c.1131G>A, XM_011520297.2:c.1131G>A, XM_011520297.1:c.1131G>A, XM_017018145.2:c.1254G>A, XM_017018145.1:c.1254G>A, XM_017018146.2:c.1254G>A, XM_017018146.1:c.1254G>A, NM_001352389.2:c.1254G>A, NM_001352389.1:c.1254G>A, NM_001352388.2:c.1254G>A, NM_001352388.1:c.1254G>A, NM_001352391.2:c.1254G>A, NM_001352391.1:c.1254G>A, NM_001352390.2:c.1254G>A, NM_001352390.1:c.1254G>A, NM_001352392.2:c.1254G>A, NM_001352392.1:c.1254G>A, NM_001289061.2:c.1254G>A, NM_001289061.1:c.1254G>A, NM_001352387.2:c.1254G>A, NM_001352387.1:c.1254G>A, NM_001352393.2:c.1254G>A, NM_001352393.1:c.1254G>A, NM_001352394.2:c.1131G>A, NM_001352394.1:c.1131G>A, XM_017018154.2:c.1254G>A, XM_017018154.1:c.1254G>A, NM_001352395.2:c.1131G>A, NM_001352395.1:c.1131G>A, NM_001289058.2:c.1131G>A, NM_001289058.1:c.1131G>A, XM_017018157.2:c.1131G>A, XM_017018157.1:c.1131G>A, NM_001289059.2:c.693G>A, NM_001289059.1:c.693G>A, XM_047427469.1:c.1254G>A, XM_047427461.1:c.1254G>A, XM_047427447.1:c.1254G>A, XM_047427450.1:c.1254G>A, XM_047427453.1:c.1254G>A, XM_047427455.1:c.1254G>A, XM_047427460.1:c.1254G>A, XM_047427452.1:c.1254G>A, XM_047427456.1:c.1254G>A, XM_047427454.1:c.1254G>A, XM_047427451.1:c.1254G>A, XM_047427448.1:c.1254G>A, XM_047427457.1:c.1254G>A, XM_047427449.1:c.1254G>A, XM_047427462.1:c.1254G>A, XM_047427459.1:c.1254G>A, XM_047427458.1:c.1254G>A, XM_047427464.1:c.1131G>A, XM_047427467.1:c.1131G>A, XM_047427468.1:c.1131G>A, XM_047427466.1:c.1131G>A, XM_047427465.1:c.1131G>A, XR_007062494.1:n.1648G>A, XM_047427463.1:c.1131G>A

                              15.

                              rs1464147188 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->ATA [Show Flanks]
                                Chromosome:
                                11:8461817 (GRCh38)
                                11:8483365 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:8461817:AATA:AATAATA
                                Gene:
                                STK33 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,inframe_insertion,5_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AATAATA=0./0 (ALFA)
                                AAT=0.000019/5 (TOPMED)
                                AAT=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000011.10:g.8461819_8461821dup, NC_000011.9:g.8483366_8483368dup, NM_030906.4:c.543_545dup, NM_030906.3:c.543_545dup, NM_030906.2:c.543_545dup, XM_017018155.3:c.543_545dup, XM_017018155.2:c.543_545dup, XM_017018155.1:c.543_545dup, XM_011520290.3:c.543_545dup, XM_011520290.2:c.543_545dup, XM_011520290.1:c.543_545dup, XM_017018144.3:c.543_545dup, XM_017018144.2:c.543_545dup, XM_017018144.1:c.543_545dup, XM_011520297.3:c.420_422dup, XM_011520297.2:c.420_422dup, XM_011520297.1:c.420_422dup, XR_001747939.2:n.3103_3105dup, XR_001747939.1:n.3111_3113dup, NM_001352398.2:c.420_422dup, NM_001352398.1:c.420_422dup, NM_001352397.2:c.420_422dup, NM_001352397.1:c.420_422dup, NM_001352396.2:c.420_422dup, NM_001352396.1:c.420_422dup, XM_017018145.2:c.543_545dup, XM_017018145.1:c.543_545dup, XM_017018146.2:c.543_545dup, XM_017018146.1:c.543_545dup, NM_001352389.2:c.543_545dup, NM_001352389.1:c.543_545dup, NM_001352388.2:c.543_545dup, NM_001352388.1:c.543_545dup, NM_001352391.2:c.543_545dup, NM_001352391.1:c.543_545dup, NM_001352390.2:c.543_545dup, NM_001352390.1:c.543_545dup, NM_001352392.2:c.543_545dup, NM_001352392.1:c.543_545dup, NM_001289061.2:c.543_545dup, NM_001289061.1:c.543_545dup, NM_001352387.2:c.543_545dup, NM_001352387.1:c.543_545dup, NM_001352393.2:c.543_545dup, NM_001352393.1:c.543_545dup, NM_001352394.2:c.420_422dup, NM_001352394.1:c.420_422dup, XM_017018154.2:c.543_545dup, XM_017018154.1:c.543_545dup, NM_001352395.2:c.420_422dup, NM_001352395.1:c.420_422dup, NM_001352399.2:c.543_545dup, NM_001352399.1:c.543_545dup, NM_001289058.2:c.420_422dup, NM_001289058.1:c.420_422dup, XM_017018157.2:c.420_422dup, XM_017018157.1:c.420_422dup, NM_001289059.2:c.-19_-17dup, NM_001289059.1:c.-19_-17dup, XM_047427469.1:c.543_545dup, XM_047427471.1:c.543_545dup, XM_047427461.1:c.543_545dup, XM_047427447.1:c.543_545dup, XM_047427450.1:c.543_545dup, XM_047427453.1:c.543_545dup, XM_047427455.1:c.543_545dup, XM_047427460.1:c.543_545dup, XM_047427452.1:c.543_545dup, XM_047427456.1:c.543_545dup, XM_047427454.1:c.543_545dup, XM_047427451.1:c.543_545dup, XM_047427448.1:c.543_545dup, XM_047427457.1:c.543_545dup, XM_047427449.1:c.543_545dup, XM_047427462.1:c.543_545dup, XM_047427470.1:c.543_545dup, XM_047427459.1:c.543_545dup, XM_047427458.1:c.543_545dup, XM_047427475.1:c.543_545dup, XM_047427464.1:c.420_422dup, XM_047427472.1:c.543_545dup, XM_047427467.1:c.420_422dup, XM_047427474.1:c.543_545dup, XM_047427468.1:c.420_422dup, XM_047427466.1:c.420_422dup, XM_047427465.1:c.420_422dup, XM_047427473.1:c.543_545dup, XR_007062494.1:n.937_939dup, XM_047427463.1:c.420_422dup, XM_047427476.1:c.420_422dup, NP_112168.1:p.Phe182_Glu183insLeu, XP_016873644.1:p.Phe182_Glu183insLeu, XP_011518592.1:p.Phe182_Glu183insLeu, XP_016873633.1:p.Phe182_Glu183insLeu, XP_011518599.1:p.Phe141_Glu142insLeu, NP_001339327.1:p.Phe141_Glu142insLeu, NP_001339326.1:p.Phe141_Glu142insLeu, NP_001339325.1:p.Phe141_Glu142insLeu, XP_016873634.1:p.Phe182_Glu183insLeu, XP_016873635.1:p.Phe182_Glu183insLeu, NP_001339318.1:p.Phe182_Glu183insLeu, NP_001339317.1:p.Phe182_Glu183insLeu, NP_001339320.1:p.Phe182_Glu183insLeu, NP_001339319.1:p.Phe182_Glu183insLeu, NP_001339321.1:p.Phe182_Glu183insLeu, NP_001275990.1:p.Phe182_Glu183insLeu, NP_001339316.1:p.Phe182_Glu183insLeu, NP_001339322.1:p.Phe182_Glu183insLeu, NP_001339323.1:p.Phe141_Glu142insLeu, XP_016873643.1:p.Phe182_Glu183insLeu, NP_001339324.1:p.Phe141_Glu142insLeu, NP_001339328.1:p.Phe182_Glu183insLeu, NP_001275987.1:p.Phe141_Glu142insLeu, XP_016873646.1:p.Phe141_Glu142insLeu, XP_047283425.1:p.Phe182_Glu183insLeu, XP_047283427.1:p.Phe182_Glu183insLeu, XP_047283417.1:p.Phe182_Glu183insLeu, XP_047283403.1:p.Phe182_Glu183insLeu, XP_047283406.1:p.Phe182_Glu183insLeu, XP_047283409.1:p.Phe182_Glu183insLeu, XP_047283411.1:p.Phe182_Glu183insLeu, XP_047283416.1:p.Phe182_Glu183insLeu, XP_047283408.1:p.Phe182_Glu183insLeu, XP_047283412.1:p.Phe182_Glu183insLeu, XP_047283410.1:p.Phe182_Glu183insLeu, XP_047283407.1:p.Phe182_Glu183insLeu, XP_047283404.1:p.Phe182_Glu183insLeu, XP_047283413.1:p.Phe182_Glu183insLeu, XP_047283405.1:p.Phe182_Glu183insLeu, XP_047283418.1:p.Phe182_Glu183insLeu, XP_047283426.1:p.Phe182_Glu183insLeu, XP_047283415.1:p.Phe182_Glu183insLeu, XP_047283414.1:p.Phe182_Glu183insLeu, XP_047283431.1:p.Phe182_Glu183insLeu, XP_047283420.1:p.Phe141_Glu142insLeu, XP_047283428.1:p.Phe182_Glu183insLeu, XP_047283423.1:p.Phe141_Glu142insLeu, XP_047283430.1:p.Phe182_Glu183insLeu, XP_047283424.1:p.Phe141_Glu142insLeu, XP_047283422.1:p.Phe141_Glu142insLeu, XP_047283421.1:p.Phe141_Glu142insLeu, XP_047283429.1:p.Phe182_Glu183insLeu, XP_047283419.1:p.Phe141_Glu142insLeu, XP_047283432.1:p.Phe141_Glu142insLeu

                                16.

                                rs1461451489 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:8474731 (GRCh38)
                                  11:8496278 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:8474730:T:C
                                  Gene:
                                  STK33 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000094/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.8474731T>C, NC_000011.9:g.8496278T>C, NM_030906.4:c.175A>G, NM_030906.3:c.175A>G, NM_030906.2:c.175A>G, XM_017018155.3:c.175A>G, XM_017018155.2:c.175A>G, XM_017018155.1:c.175A>G, XM_011520290.3:c.175A>G, XM_011520290.2:c.175A>G, XM_011520290.1:c.175A>G, XM_017018144.3:c.175A>G, XM_017018144.2:c.175A>G, XM_017018144.1:c.175A>G, XM_011520297.3:c.52A>G, XM_011520297.2:c.52A>G, XM_011520297.1:c.52A>G, XR_001747939.2:n.2735A>G, XR_001747939.1:n.2743A>G, NM_001352398.2:c.52A>G, NM_001352398.1:c.52A>G, NM_001352397.2:c.52A>G, NM_001352397.1:c.52A>G, NM_001352396.2:c.52A>G, NM_001352396.1:c.52A>G, XM_017018145.2:c.175A>G, XM_017018145.1:c.175A>G, XM_017018146.2:c.175A>G, XM_017018146.1:c.175A>G, NM_001352389.2:c.175A>G, NM_001352389.1:c.175A>G, NM_001352388.2:c.175A>G, NM_001352388.1:c.175A>G, NM_001352391.2:c.175A>G, NM_001352391.1:c.175A>G, NM_001352390.2:c.175A>G, NM_001352390.1:c.175A>G, NM_001352392.2:c.175A>G, NM_001352392.1:c.175A>G, NM_001289061.2:c.175A>G, NM_001289061.1:c.175A>G, NM_001352387.2:c.175A>G, NM_001352387.1:c.175A>G, NM_001352393.2:c.175A>G, NM_001352393.1:c.175A>G, NM_001352394.2:c.52A>G, NM_001352394.1:c.52A>G, XM_017018154.2:c.175A>G, XM_017018154.1:c.175A>G, NM_001352395.2:c.52A>G, NM_001352395.1:c.52A>G, NM_001352399.2:c.175A>G, NM_001352399.1:c.175A>G, NM_001289058.2:c.52A>G, NM_001289058.1:c.52A>G, XM_017018157.2:c.52A>G, XM_017018157.1:c.52A>G, XM_047427469.1:c.175A>G, XM_047427471.1:c.175A>G, XM_047427461.1:c.175A>G, XM_047427447.1:c.175A>G, XM_047427450.1:c.175A>G, XM_047427453.1:c.175A>G, XM_047427455.1:c.175A>G, XM_047427460.1:c.175A>G, XM_047427452.1:c.175A>G, XM_047427456.1:c.175A>G, XM_047427454.1:c.175A>G, XM_047427451.1:c.175A>G, XM_047427448.1:c.175A>G, XM_047427457.1:c.175A>G, XM_047427449.1:c.175A>G, XM_047427462.1:c.175A>G, XM_047427470.1:c.175A>G, XM_047427459.1:c.175A>G, XM_047427458.1:c.175A>G, XM_047427475.1:c.175A>G, XM_047427464.1:c.52A>G, XM_047427472.1:c.175A>G, XM_047427467.1:c.52A>G, XM_047427474.1:c.175A>G, XM_047427468.1:c.52A>G, XM_047427466.1:c.52A>G, XM_047427465.1:c.52A>G, XM_047427473.1:c.175A>G, XR_007062494.1:n.569A>G, XM_047427463.1:c.52A>G, XM_047427476.1:c.52A>G, NP_112168.1:p.Arg59Gly, XP_016873644.1:p.Arg59Gly, XP_011518592.1:p.Arg59Gly, XP_016873633.1:p.Arg59Gly, XP_011518599.1:p.Arg18Gly, NP_001339327.1:p.Arg18Gly, NP_001339326.1:p.Arg18Gly, NP_001339325.1:p.Arg18Gly, XP_016873634.1:p.Arg59Gly, XP_016873635.1:p.Arg59Gly, NP_001339318.1:p.Arg59Gly, NP_001339317.1:p.Arg59Gly, NP_001339320.1:p.Arg59Gly, NP_001339319.1:p.Arg59Gly, NP_001339321.1:p.Arg59Gly, NP_001275990.1:p.Arg59Gly, NP_001339316.1:p.Arg59Gly, NP_001339322.1:p.Arg59Gly, NP_001339323.1:p.Arg18Gly, XP_016873643.1:p.Arg59Gly, NP_001339324.1:p.Arg18Gly, NP_001339328.1:p.Arg59Gly, NP_001275987.1:p.Arg18Gly, XP_016873646.1:p.Arg18Gly, XP_047283425.1:p.Arg59Gly, XP_047283427.1:p.Arg59Gly, XP_047283417.1:p.Arg59Gly, XP_047283403.1:p.Arg59Gly, XP_047283406.1:p.Arg59Gly, XP_047283409.1:p.Arg59Gly, XP_047283411.1:p.Arg59Gly, XP_047283416.1:p.Arg59Gly, XP_047283408.1:p.Arg59Gly, XP_047283412.1:p.Arg59Gly, XP_047283410.1:p.Arg59Gly, XP_047283407.1:p.Arg59Gly, XP_047283404.1:p.Arg59Gly, XP_047283413.1:p.Arg59Gly, XP_047283405.1:p.Arg59Gly, XP_047283418.1:p.Arg59Gly, XP_047283426.1:p.Arg59Gly, XP_047283415.1:p.Arg59Gly, XP_047283414.1:p.Arg59Gly, XP_047283431.1:p.Arg59Gly, XP_047283420.1:p.Arg18Gly, XP_047283428.1:p.Arg59Gly, XP_047283423.1:p.Arg18Gly, XP_047283430.1:p.Arg59Gly, XP_047283424.1:p.Arg18Gly, XP_047283422.1:p.Arg18Gly, XP_047283421.1:p.Arg18Gly, XP_047283429.1:p.Arg59Gly, XP_047283419.1:p.Arg18Gly, XP_047283432.1:p.Arg18Gly

                                  17.

                                  rs1459256404 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:8392607 (GRCh38)
                                    11:8414154 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:8392606:C:T
                                    Gene:
                                    STK33 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.8392607C>T, NC_000011.9:g.8414154C>T, NM_030906.4:c.1448G>A, NM_030906.3:c.1448G>A, NM_030906.2:c.1448G>A, XM_017018155.3:c.1448G>A, XM_017018155.2:c.1448G>A, XM_017018155.1:c.1448G>A, XM_011520290.3:c.1448G>A, XM_011520290.2:c.1448G>A, XM_011520290.1:c.1448G>A, XM_017018144.3:c.1448G>A, XM_017018144.2:c.1448G>A, XM_017018144.1:c.1448G>A, XM_011520297.3:c.1325G>A, XM_011520297.2:c.1325G>A, XM_011520297.1:c.1325G>A, XM_017018145.2:c.1448G>A, XM_017018145.1:c.1448G>A, XM_017018146.2:c.1448G>A, XM_017018146.1:c.1448G>A, NM_001352389.2:c.1448G>A, NM_001352389.1:c.1448G>A, NM_001352388.2:c.1448G>A, NM_001352388.1:c.1448G>A, NM_001352391.2:c.1448G>A, NM_001352391.1:c.1448G>A, NM_001352390.2:c.1448G>A, NM_001352390.1:c.1448G>A, NM_001352392.2:c.1448G>A, NM_001352392.1:c.1448G>A, NM_001289061.2:c.1448G>A, NM_001289061.1:c.1448G>A, NM_001352387.2:c.1448G>A, NM_001352387.1:c.1448G>A, NM_001352393.2:c.1448G>A, NM_001352393.1:c.1448G>A, NM_001352394.2:c.1325G>A, NM_001352394.1:c.1325G>A, XM_017018154.2:c.1448G>A, XM_017018154.1:c.1448G>A, NM_001352395.2:c.1325G>A, NM_001352395.1:c.1325G>A, NM_001352399.2:c.1250G>A, NM_001352399.1:c.1250G>A, NM_001289058.2:c.1325G>A, NM_001289058.1:c.1325G>A, XM_017018157.2:c.1325G>A, XM_017018157.1:c.1325G>A, NM_001289059.2:c.887G>A, NM_001289059.1:c.887G>A, XM_047427471.1:c.1250G>A, XM_047427461.1:c.1448G>A, XM_047427447.1:c.1448G>A, XM_047427450.1:c.1448G>A, XM_047427453.1:c.1448G>A, XM_047427455.1:c.1448G>A, XM_047427460.1:c.1448G>A, XM_047427452.1:c.1448G>A, XM_047427456.1:c.1448G>A, XM_047427454.1:c.1448G>A, XM_047427451.1:c.1448G>A, XM_047427448.1:c.1448G>A, XM_047427457.1:c.1448G>A, XM_047427449.1:c.1448G>A, XM_047427462.1:c.1448G>A, XM_047427470.1:c.1250G>A, XM_047427459.1:c.1448G>A, XM_047427458.1:c.1448G>A, XM_047427475.1:c.1250G>A, XM_047427464.1:c.1325G>A, XM_047427472.1:c.1250G>A, XM_047427467.1:c.1325G>A, XM_047427474.1:c.1250G>A, XM_047427468.1:c.1325G>A, XM_047427466.1:c.1325G>A, XM_047427465.1:c.1325G>A, XM_047427473.1:c.1250G>A, XM_047427463.1:c.1325G>A, XM_047427476.1:c.1127G>A, NP_112168.1:p.Gly483Glu, XP_016873644.1:p.Gly483Glu, XP_011518592.1:p.Gly483Glu, XP_016873633.1:p.Gly483Glu, XP_011518599.1:p.Gly442Glu, XP_016873634.1:p.Gly483Glu, XP_016873635.1:p.Gly483Glu, NP_001339318.1:p.Gly483Glu, NP_001339317.1:p.Gly483Glu, NP_001339320.1:p.Gly483Glu, NP_001339319.1:p.Gly483Glu, NP_001339321.1:p.Gly483Glu, NP_001275990.1:p.Gly483Glu, NP_001339316.1:p.Gly483Glu, NP_001339322.1:p.Gly483Glu, NP_001339323.1:p.Gly442Glu, XP_016873643.1:p.Gly483Glu, NP_001339324.1:p.Gly442Glu, NP_001339328.1:p.Gly417Glu, NP_001275987.1:p.Gly442Glu, XP_016873646.1:p.Gly442Glu, NP_001275988.1:p.Gly296Glu, XP_047283427.1:p.Gly417Glu, XP_047283417.1:p.Gly483Glu, XP_047283403.1:p.Gly483Glu, XP_047283406.1:p.Gly483Glu, XP_047283409.1:p.Gly483Glu, XP_047283411.1:p.Gly483Glu, XP_047283416.1:p.Gly483Glu, XP_047283408.1:p.Gly483Glu, XP_047283412.1:p.Gly483Glu, XP_047283410.1:p.Gly483Glu, XP_047283407.1:p.Gly483Glu, XP_047283404.1:p.Gly483Glu, XP_047283413.1:p.Gly483Glu, XP_047283405.1:p.Gly483Glu, XP_047283418.1:p.Gly483Glu, XP_047283426.1:p.Gly417Glu, XP_047283415.1:p.Gly483Glu, XP_047283414.1:p.Gly483Glu, XP_047283431.1:p.Gly417Glu, XP_047283420.1:p.Gly442Glu, XP_047283428.1:p.Gly417Glu, XP_047283423.1:p.Gly442Glu, XP_047283430.1:p.Gly417Glu, XP_047283424.1:p.Gly442Glu, XP_047283422.1:p.Gly442Glu, XP_047283421.1:p.Gly442Glu, XP_047283429.1:p.Gly417Glu, XP_047283419.1:p.Gly442Glu, XP_047283432.1:p.Gly376Glu

                                    18.

                                    rs1458075092 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:8436033 (GRCh38)
                                      11:8457580 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:8436032:C:T
                                      Gene:
                                      STK33 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000009/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.8436033C>T, NC_000011.9:g.8457580C>T, NM_030906.4:c.1054G>A, NM_030906.3:c.1054G>A, NM_030906.2:c.1054G>A, XM_017018155.3:c.1054G>A, XM_017018155.2:c.1054G>A, XM_017018155.1:c.1054G>A, XM_011520290.3:c.1054G>A, XM_011520290.2:c.1054G>A, XM_011520290.1:c.1054G>A, XM_017018144.3:c.1054G>A, XM_017018144.2:c.1054G>A, XM_017018144.1:c.1054G>A, XM_011520297.3:c.931G>A, XM_011520297.2:c.931G>A, XM_011520297.1:c.931G>A, XR_001747939.2:n.3538G>A, XR_001747939.1:n.3546G>A, NM_001352398.2:c.931G>A, NM_001352398.1:c.931G>A, NM_001352397.2:c.931G>A, NM_001352397.1:c.931G>A, NM_001352396.2:c.931G>A, NM_001352396.1:c.931G>A, XM_017018145.2:c.1054G>A, XM_017018145.1:c.1054G>A, XM_017018146.2:c.1054G>A, XM_017018146.1:c.1054G>A, NM_001352389.2:c.1054G>A, NM_001352389.1:c.1054G>A, NM_001352388.2:c.1054G>A, NM_001352388.1:c.1054G>A, NM_001352391.2:c.1054G>A, NM_001352391.1:c.1054G>A, NM_001352390.2:c.1054G>A, NM_001352390.1:c.1054G>A, NM_001352392.2:c.1054G>A, NM_001352392.1:c.1054G>A, NM_001289061.2:c.1054G>A, NM_001289061.1:c.1054G>A, NM_001352387.2:c.1054G>A, NM_001352387.1:c.1054G>A, NM_001352393.2:c.1054G>A, NM_001352393.1:c.1054G>A, NM_001352394.2:c.931G>A, NM_001352394.1:c.931G>A, XM_017018154.2:c.1054G>A, XM_017018154.1:c.1054G>A, NM_001352395.2:c.931G>A, NM_001352395.1:c.931G>A, NM_001352399.2:c.1054G>A, NM_001352399.1:c.1054G>A, NM_001289058.2:c.931G>A, NM_001289058.1:c.931G>A, XM_017018157.2:c.931G>A, XM_017018157.1:c.931G>A, NM_001289059.2:c.493G>A, NM_001289059.1:c.493G>A, XM_047427469.1:c.1054G>A, XM_047427471.1:c.1054G>A, XM_047427461.1:c.1054G>A, XM_047427447.1:c.1054G>A, XM_047427450.1:c.1054G>A, XM_047427453.1:c.1054G>A, XM_047427455.1:c.1054G>A, XM_047427460.1:c.1054G>A, XM_047427452.1:c.1054G>A, XM_047427456.1:c.1054G>A, XM_047427454.1:c.1054G>A, XM_047427451.1:c.1054G>A, XM_047427448.1:c.1054G>A, XM_047427457.1:c.1054G>A, XM_047427449.1:c.1054G>A, XM_047427462.1:c.1054G>A, XM_047427470.1:c.1054G>A, XM_047427459.1:c.1054G>A, XM_047427458.1:c.1054G>A, XM_047427475.1:c.1054G>A, XM_047427464.1:c.931G>A, XM_047427472.1:c.1054G>A, XM_047427467.1:c.931G>A, XM_047427474.1:c.1054G>A, XM_047427468.1:c.931G>A, XM_047427466.1:c.931G>A, XM_047427465.1:c.931G>A, XM_047427473.1:c.1054G>A, XR_007062494.1:n.1448G>A, XM_047427463.1:c.931G>A, XM_047427476.1:c.931G>A, NP_112168.1:p.Asp352Asn, XP_016873644.1:p.Asp352Asn, XP_011518592.1:p.Asp352Asn, XP_016873633.1:p.Asp352Asn, XP_011518599.1:p.Asp311Asn, NP_001339327.1:p.Asp311Asn, NP_001339326.1:p.Asp311Asn, NP_001339325.1:p.Asp311Asn, XP_016873634.1:p.Asp352Asn, XP_016873635.1:p.Asp352Asn, NP_001339318.1:p.Asp352Asn, NP_001339317.1:p.Asp352Asn, NP_001339320.1:p.Asp352Asn, NP_001339319.1:p.Asp352Asn, NP_001339321.1:p.Asp352Asn, NP_001275990.1:p.Asp352Asn, NP_001339316.1:p.Asp352Asn, NP_001339322.1:p.Asp352Asn, NP_001339323.1:p.Asp311Asn, XP_016873643.1:p.Asp352Asn, NP_001339324.1:p.Asp311Asn, NP_001339328.1:p.Asp352Asn, NP_001275987.1:p.Asp311Asn, XP_016873646.1:p.Asp311Asn, NP_001275988.1:p.Asp165Asn, XP_047283425.1:p.Asp352Asn, XP_047283427.1:p.Asp352Asn, XP_047283417.1:p.Asp352Asn, XP_047283403.1:p.Asp352Asn, XP_047283406.1:p.Asp352Asn, XP_047283409.1:p.Asp352Asn, XP_047283411.1:p.Asp352Asn, XP_047283416.1:p.Asp352Asn, XP_047283408.1:p.Asp352Asn, XP_047283412.1:p.Asp352Asn, XP_047283410.1:p.Asp352Asn, XP_047283407.1:p.Asp352Asn, XP_047283404.1:p.Asp352Asn, XP_047283413.1:p.Asp352Asn, XP_047283405.1:p.Asp352Asn, XP_047283418.1:p.Asp352Asn, XP_047283426.1:p.Asp352Asn, XP_047283415.1:p.Asp352Asn, XP_047283414.1:p.Asp352Asn, XP_047283431.1:p.Asp352Asn, XP_047283420.1:p.Asp311Asn, XP_047283428.1:p.Asp352Asn, XP_047283423.1:p.Asp311Asn, XP_047283430.1:p.Asp352Asn, XP_047283424.1:p.Asp311Asn, XP_047283422.1:p.Asp311Asn, XP_047283421.1:p.Asp311Asn, XP_047283429.1:p.Asp352Asn, XP_047283419.1:p.Asp311Asn, XP_047283432.1:p.Asp311Asn

                                      19.

                                      rs1455266125 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:8436089 (GRCh38)
                                        11:8457636 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:8436088:T:C
                                        Gene:
                                        STK33 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.8436089T>C, NC_000011.9:g.8457636T>C, NM_030906.4:c.998A>G, NM_030906.3:c.998A>G, NM_030906.2:c.998A>G, XM_017018155.3:c.998A>G, XM_017018155.2:c.998A>G, XM_017018155.1:c.998A>G, XM_011520290.3:c.998A>G, XM_011520290.2:c.998A>G, XM_011520290.1:c.998A>G, XM_017018144.3:c.998A>G, XM_017018144.2:c.998A>G, XM_017018144.1:c.998A>G, XM_011520297.3:c.875A>G, XM_011520297.2:c.875A>G, XM_011520297.1:c.875A>G, XR_001747939.2:n.3482A>G, XR_001747939.1:n.3490A>G, NM_001352398.2:c.875A>G, NM_001352398.1:c.875A>G, NM_001352397.2:c.875A>G, NM_001352397.1:c.875A>G, NM_001352396.2:c.875A>G, NM_001352396.1:c.875A>G, XM_017018145.2:c.998A>G, XM_017018145.1:c.998A>G, XM_017018146.2:c.998A>G, XM_017018146.1:c.998A>G, NM_001352389.2:c.998A>G, NM_001352389.1:c.998A>G, NM_001352388.2:c.998A>G, NM_001352388.1:c.998A>G, NM_001352391.2:c.998A>G, NM_001352391.1:c.998A>G, NM_001352390.2:c.998A>G, NM_001352390.1:c.998A>G, NM_001352392.2:c.998A>G, NM_001352392.1:c.998A>G, NM_001289061.2:c.998A>G, NM_001289061.1:c.998A>G, NM_001352387.2:c.998A>G, NM_001352387.1:c.998A>G, NM_001352393.2:c.998A>G, NM_001352393.1:c.998A>G, NM_001352394.2:c.875A>G, NM_001352394.1:c.875A>G, XM_017018154.2:c.998A>G, XM_017018154.1:c.998A>G, NM_001352395.2:c.875A>G, NM_001352395.1:c.875A>G, NM_001352399.2:c.998A>G, NM_001352399.1:c.998A>G, NM_001289058.2:c.875A>G, NM_001289058.1:c.875A>G, XM_017018157.2:c.875A>G, XM_017018157.1:c.875A>G, NM_001289059.2:c.437A>G, NM_001289059.1:c.437A>G, XM_047427469.1:c.998A>G, XM_047427471.1:c.998A>G, XM_047427461.1:c.998A>G, XM_047427447.1:c.998A>G, XM_047427450.1:c.998A>G, XM_047427453.1:c.998A>G, XM_047427455.1:c.998A>G, XM_047427460.1:c.998A>G, XM_047427452.1:c.998A>G, XM_047427456.1:c.998A>G, XM_047427454.1:c.998A>G, XM_047427451.1:c.998A>G, XM_047427448.1:c.998A>G, XM_047427457.1:c.998A>G, XM_047427449.1:c.998A>G, XM_047427462.1:c.998A>G, XM_047427470.1:c.998A>G, XM_047427459.1:c.998A>G, XM_047427458.1:c.998A>G, XM_047427475.1:c.998A>G, XM_047427464.1:c.875A>G, XM_047427472.1:c.998A>G, XM_047427467.1:c.875A>G, XM_047427474.1:c.998A>G, XM_047427468.1:c.875A>G, XM_047427466.1:c.875A>G, XM_047427465.1:c.875A>G, XM_047427473.1:c.998A>G, XR_007062494.1:n.1392A>G, XM_047427463.1:c.875A>G, XM_047427476.1:c.875A>G, NP_112168.1:p.Glu333Gly, XP_016873644.1:p.Glu333Gly, XP_011518592.1:p.Glu333Gly, XP_016873633.1:p.Glu333Gly, XP_011518599.1:p.Glu292Gly, NP_001339327.1:p.Glu292Gly, NP_001339326.1:p.Glu292Gly, NP_001339325.1:p.Glu292Gly, XP_016873634.1:p.Glu333Gly, XP_016873635.1:p.Glu333Gly, NP_001339318.1:p.Glu333Gly, NP_001339317.1:p.Glu333Gly, NP_001339320.1:p.Glu333Gly, NP_001339319.1:p.Glu333Gly, NP_001339321.1:p.Glu333Gly, NP_001275990.1:p.Glu333Gly, NP_001339316.1:p.Glu333Gly, NP_001339322.1:p.Glu333Gly, NP_001339323.1:p.Glu292Gly, XP_016873643.1:p.Glu333Gly, NP_001339324.1:p.Glu292Gly, NP_001339328.1:p.Glu333Gly, NP_001275987.1:p.Glu292Gly, XP_016873646.1:p.Glu292Gly, NP_001275988.1:p.Glu146Gly, XP_047283425.1:p.Glu333Gly, XP_047283427.1:p.Glu333Gly, XP_047283417.1:p.Glu333Gly, XP_047283403.1:p.Glu333Gly, XP_047283406.1:p.Glu333Gly, XP_047283409.1:p.Glu333Gly, XP_047283411.1:p.Glu333Gly, XP_047283416.1:p.Glu333Gly, XP_047283408.1:p.Glu333Gly, XP_047283412.1:p.Glu333Gly, XP_047283410.1:p.Glu333Gly, XP_047283407.1:p.Glu333Gly, XP_047283404.1:p.Glu333Gly, XP_047283413.1:p.Glu333Gly, XP_047283405.1:p.Glu333Gly, XP_047283418.1:p.Glu333Gly, XP_047283426.1:p.Glu333Gly, XP_047283415.1:p.Glu333Gly, XP_047283414.1:p.Glu333Gly, XP_047283431.1:p.Glu333Gly, XP_047283420.1:p.Glu292Gly, XP_047283428.1:p.Glu333Gly, XP_047283423.1:p.Glu292Gly, XP_047283430.1:p.Glu333Gly, XP_047283424.1:p.Glu292Gly, XP_047283422.1:p.Glu292Gly, XP_047283421.1:p.Glu292Gly, XP_047283429.1:p.Glu333Gly, XP_047283419.1:p.Glu292Gly, XP_047283432.1:p.Glu292Gly

                                        20.

                                        rs1454974207 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:8457350 (GRCh38)
                                          11:8478897 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:8457349:G:A
                                          Gene:
                                          STK33 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.8457350G>A, NC_000011.9:g.8478897G>A, NM_030906.4:c.688C>T, NM_030906.3:c.688C>T, NM_030906.2:c.688C>T, XM_017018155.3:c.688C>T, XM_017018155.2:c.688C>T, XM_017018155.1:c.688C>T, XM_011520290.3:c.688C>T, XM_011520290.2:c.688C>T, XM_011520290.1:c.688C>T, XM_017018144.3:c.688C>T, XM_017018144.2:c.688C>T, XM_017018144.1:c.688C>T, XM_011520297.3:c.565C>T, XM_011520297.2:c.565C>T, XM_011520297.1:c.565C>T, XR_001747939.2:n.3248C>T, XR_001747939.1:n.3256C>T, NM_001352398.2:c.565C>T, NM_001352398.1:c.565C>T, NM_001352397.2:c.565C>T, NM_001352397.1:c.565C>T, NM_001352396.2:c.565C>T, NM_001352396.1:c.565C>T, XM_017018145.2:c.688C>T, XM_017018145.1:c.688C>T, XM_017018146.2:c.688C>T, XM_017018146.1:c.688C>T, NM_001352389.2:c.688C>T, NM_001352389.1:c.688C>T, NM_001352388.2:c.688C>T, NM_001352388.1:c.688C>T, NM_001352391.2:c.688C>T, NM_001352391.1:c.688C>T, NM_001352390.2:c.688C>T, NM_001352390.1:c.688C>T, NM_001352392.2:c.688C>T, NM_001352392.1:c.688C>T, NM_001289061.2:c.688C>T, NM_001289061.1:c.688C>T, NM_001352387.2:c.688C>T, NM_001352387.1:c.688C>T, NM_001352393.2:c.688C>T, NM_001352393.1:c.688C>T, NM_001352394.2:c.565C>T, NM_001352394.1:c.565C>T, XM_017018154.2:c.688C>T, XM_017018154.1:c.688C>T, NM_001352395.2:c.565C>T, NM_001352395.1:c.565C>T, NM_001352399.2:c.688C>T, NM_001352399.1:c.688C>T, NM_001289058.2:c.565C>T, NM_001289058.1:c.565C>T, XM_017018157.2:c.565C>T, XM_017018157.1:c.565C>T, NM_001289059.2:c.127C>T, NM_001289059.1:c.127C>T, XM_047427469.1:c.688C>T, XM_047427471.1:c.688C>T, XM_047427461.1:c.688C>T, XM_047427447.1:c.688C>T, XM_047427450.1:c.688C>T, XM_047427453.1:c.688C>T, XM_047427455.1:c.688C>T, XM_047427460.1:c.688C>T, XM_047427452.1:c.688C>T, XM_047427456.1:c.688C>T, XM_047427454.1:c.688C>T, XM_047427451.1:c.688C>T, XM_047427448.1:c.688C>T, XM_047427457.1:c.688C>T, XM_047427449.1:c.688C>T, XM_047427462.1:c.688C>T, XM_047427470.1:c.688C>T, XM_047427459.1:c.688C>T, XM_047427458.1:c.688C>T, XM_047427475.1:c.688C>T, XM_047427464.1:c.565C>T, XM_047427472.1:c.688C>T, XM_047427467.1:c.565C>T, XM_047427474.1:c.688C>T, XM_047427468.1:c.565C>T, XM_047427466.1:c.565C>T, XM_047427465.1:c.565C>T, XM_047427473.1:c.688C>T, XR_007062494.1:n.1082C>T, XM_047427463.1:c.565C>T, XM_047427476.1:c.565C>T, NP_112168.1:p.His230Tyr, XP_016873644.1:p.His230Tyr, XP_011518592.1:p.His230Tyr, XP_016873633.1:p.His230Tyr, XP_011518599.1:p.His189Tyr, NP_001339327.1:p.His189Tyr, NP_001339326.1:p.His189Tyr, NP_001339325.1:p.His189Tyr, XP_016873634.1:p.His230Tyr, XP_016873635.1:p.His230Tyr, NP_001339318.1:p.His230Tyr, NP_001339317.1:p.His230Tyr, NP_001339320.1:p.His230Tyr, NP_001339319.1:p.His230Tyr, NP_001339321.1:p.His230Tyr, NP_001275990.1:p.His230Tyr, NP_001339316.1:p.His230Tyr, NP_001339322.1:p.His230Tyr, NP_001339323.1:p.His189Tyr, XP_016873643.1:p.His230Tyr, NP_001339324.1:p.His189Tyr, NP_001339328.1:p.His230Tyr, NP_001275987.1:p.His189Tyr, XP_016873646.1:p.His189Tyr, NP_001275988.1:p.His43Tyr, XP_047283425.1:p.His230Tyr, XP_047283427.1:p.His230Tyr, XP_047283417.1:p.His230Tyr, XP_047283403.1:p.His230Tyr, XP_047283406.1:p.His230Tyr, XP_047283409.1:p.His230Tyr, XP_047283411.1:p.His230Tyr, XP_047283416.1:p.His230Tyr, XP_047283408.1:p.His230Tyr, XP_047283412.1:p.His230Tyr, XP_047283410.1:p.His230Tyr, XP_047283407.1:p.His230Tyr, XP_047283404.1:p.His230Tyr, XP_047283413.1:p.His230Tyr, XP_047283405.1:p.His230Tyr, XP_047283418.1:p.His230Tyr, XP_047283426.1:p.His230Tyr, XP_047283415.1:p.His230Tyr, XP_047283414.1:p.His230Tyr, XP_047283431.1:p.His230Tyr, XP_047283420.1:p.His189Tyr, XP_047283428.1:p.His230Tyr, XP_047283423.1:p.His189Tyr, XP_047283430.1:p.His230Tyr, XP_047283424.1:p.His189Tyr, XP_047283422.1:p.His189Tyr, XP_047283421.1:p.His189Tyr, XP_047283429.1:p.His230Tyr, XP_047283419.1:p.His189Tyr, XP_047283432.1:p.His189Tyr

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