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Items: 1 to 20 of 331

1.

rs1488055406 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    2:241499093 (GRCh38)
    2:242438508 (GRCh37)
    Canonical SPDI:
    NC_000002.12:241499092:C:A,NC_000002.12:241499092:C:G,NC_000002.12:241499092:C:T
    Gene:
    STK25 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000002.12:g.241499093C>A, NC_000002.12:g.241499093C>G, NC_000002.12:g.241499093C>T, NC_000002.11:g.242438508C>A, NC_000002.11:g.242438508C>G, NC_000002.11:g.242438508C>T, NM_006374.5:c.667G>T, NM_006374.5:c.667G>C, NM_006374.5:c.667G>A, NM_006374.4:c.667G>T, NM_006374.4:c.667G>C, NM_006374.4:c.667G>A, XM_011510493.4:c.667G>T, XM_011510493.4:c.667G>C, XM_011510493.4:c.667G>A, XM_011510493.3:c.667G>T, XM_011510493.3:c.667G>C, XM_011510493.3:c.667G>A, XM_011510493.2:c.667G>T, XM_011510493.2:c.667G>C, XM_011510493.2:c.667G>A, XM_011510493.1:c.667G>T, XM_011510493.1:c.667G>C, XM_011510493.1:c.667G>A, XM_011510496.4:c.667G>T, XM_011510496.4:c.667G>C, XM_011510496.4:c.667G>A, XM_011510496.3:c.667G>T, XM_011510496.3:c.667G>C, XM_011510496.3:c.667G>A, XM_011510496.2:c.667G>T, XM_011510496.2:c.667G>C, XM_011510496.2:c.667G>A, XM_011510496.1:c.667G>T, XM_011510496.1:c.667G>C, XM_011510496.1:c.667G>A, XM_011510495.3:c.445G>T, XM_011510495.3:c.445G>C, XM_011510495.3:c.445G>A, XM_011510495.2:c.445G>T, XM_011510495.2:c.445G>C, XM_011510495.2:c.445G>A, XM_011510495.1:c.445G>T, XM_011510495.1:c.445G>C, XM_011510495.1:c.445G>A, XM_011510494.3:c.445G>T, XM_011510494.3:c.445G>C, XM_011510494.3:c.445G>A, XM_011510494.2:c.445G>T, XM_011510494.2:c.445G>C, XM_011510494.2:c.445G>A, XM_011510494.1:c.445G>T, XM_011510494.1:c.445G>C, XM_011510494.1:c.445G>A, NM_001271978.2:c.667G>T, NM_001271978.2:c.667G>C, NM_001271978.2:c.667G>A, NM_001271978.1:c.667G>T, NM_001271978.1:c.667G>C, NM_001271978.1:c.667G>A, NM_001271977.2:c.667G>T, NM_001271977.2:c.667G>C, NM_001271977.2:c.667G>A, NM_001271977.1:c.667G>T, NM_001271977.1:c.667G>C, NM_001271977.1:c.667G>A, NM_001282306.2:c.445G>T, NM_001282306.2:c.445G>C, NM_001282306.2:c.445G>A, NM_001282306.1:c.445G>T, NM_001282306.1:c.445G>C, NM_001282306.1:c.445G>A, NM_001282307.2:c.385G>T, NM_001282307.2:c.385G>C, NM_001282307.2:c.385G>A, NM_001282307.1:c.385G>T, NM_001282307.1:c.385G>C, NM_001282307.1:c.385G>A, XM_017003170.2:c.445G>T, XM_017003170.2:c.445G>C, XM_017003170.2:c.445G>A, XM_017003170.1:c.445G>T, XM_017003170.1:c.445G>C, XM_017003170.1:c.445G>A, NM_001282308.2:c.385G>T, NM_001282308.2:c.385G>C, NM_001282308.2:c.385G>A, NM_001282308.1:c.385G>T, NM_001282308.1:c.385G>C, NM_001282308.1:c.385G>A, NM_001271979.2:c.436G>T, NM_001271979.2:c.436G>C, NM_001271979.2:c.436G>A, NM_001271979.1:c.436G>T, NM_001271979.1:c.436G>C, NM_001271979.1:c.436G>A, NM_001271980.2:c.436G>T, NM_001271980.2:c.436G>C, NM_001271980.2:c.436G>A, NM_001271980.1:c.436G>T, NM_001271980.1:c.436G>C, NM_001271980.1:c.436G>A, XM_047442925.1:c.445G>T, XM_047442925.1:c.445G>C, XM_047442925.1:c.445G>A, NR_073530.1:n.987G>T, NR_073530.1:n.987G>C, NR_073530.1:n.987G>A, NM_001282305.1:c.385G>T, NM_001282305.1:c.385G>C, NM_001282305.1:c.385G>A, NR_073531.1:n.970G>T, NR_073531.1:n.970G>C, NR_073531.1:n.970G>A, NR_073532.1:n.890G>T, NR_073532.1:n.890G>C, NR_073532.1:n.890G>A, NR_073533.1:n.828G>T, NR_073533.1:n.828G>C, NR_073533.1:n.828G>A, XM_047442924.1:c.667G>T, XM_047442924.1:c.667G>C, XM_047442924.1:c.667G>A, NP_006365.2:p.Val223Phe, NP_006365.2:p.Val223Leu, NP_006365.2:p.Val223Ile, XP_011508795.1:p.Val223Phe, XP_011508795.1:p.Val223Leu, XP_011508795.1:p.Val223Ile, XP_011508798.1:p.Val223Phe, XP_011508798.1:p.Val223Leu, XP_011508798.1:p.Val223Ile, XP_011508797.1:p.Val149Phe, XP_011508797.1:p.Val149Leu, XP_011508797.1:p.Val149Ile, XP_011508796.1:p.Val149Phe, XP_011508796.1:p.Val149Leu, XP_011508796.1:p.Val149Ile, NP_001258907.1:p.Val223Phe, NP_001258907.1:p.Val223Leu, NP_001258907.1:p.Val223Ile, NP_001258906.1:p.Val223Phe, NP_001258906.1:p.Val223Leu, NP_001258906.1:p.Val223Ile, NP_001269235.1:p.Val149Phe, NP_001269235.1:p.Val149Leu, NP_001269235.1:p.Val149Ile, NP_001269236.1:p.Val129Phe, NP_001269236.1:p.Val129Leu, NP_001269236.1:p.Val129Ile, XP_016858659.1:p.Val149Phe, XP_016858659.1:p.Val149Leu, XP_016858659.1:p.Val149Ile, NP_001269237.1:p.Val129Phe, NP_001269237.1:p.Val129Leu, NP_001269237.1:p.Val129Ile, NP_001258908.1:p.Val146Phe, NP_001258908.1:p.Val146Leu, NP_001258908.1:p.Val146Ile, NP_001258909.1:p.Val146Phe, NP_001258909.1:p.Val146Leu, NP_001258909.1:p.Val146Ile, XP_047298881.1:p.Val149Phe, XP_047298881.1:p.Val149Leu, XP_047298881.1:p.Val149Ile, NP_001269234.1:p.Val129Phe, NP_001269234.1:p.Val129Leu, NP_001269234.1:p.Val129Ile, XP_047298880.1:p.Val223Phe, XP_047298880.1:p.Val223Leu, XP_047298880.1:p.Val223Ile

    2.

    rs1486694585 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:241498639 (GRCh38)
      2:242438054 (GRCh37)
      Canonical SPDI:
      NC_000002.12:241498638:A:G
      Gene:
      STK25 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000011/3 (TOPMED)
      HGVS:
      NC_000002.12:g.241498639A>G, NC_000002.11:g.242438054A>G, NM_006374.5:c.917T>C, NM_006374.4:c.917T>C, XM_011510493.4:c.917T>C, XM_011510493.3:c.917T>C, XM_011510493.2:c.917T>C, XM_011510493.1:c.917T>C, XM_011510496.4:c.917T>C, XM_011510496.3:c.917T>C, XM_011510496.2:c.917T>C, XM_011510496.1:c.917T>C, XM_011510495.3:c.695T>C, XM_011510495.2:c.695T>C, XM_011510495.1:c.695T>C, XM_011510494.3:c.695T>C, XM_011510494.2:c.695T>C, XM_011510494.1:c.695T>C, NM_001271978.2:c.917T>C, NM_001271978.1:c.917T>C, NM_001271977.2:c.917T>C, NM_001271977.1:c.917T>C, NM_001282306.2:c.695T>C, NM_001282306.1:c.695T>C, NM_001282307.2:c.635T>C, NM_001282307.1:c.635T>C, XM_017003170.2:c.695T>C, XM_017003170.1:c.695T>C, NM_001282308.2:c.635T>C, NM_001282308.1:c.635T>C, NM_001271979.2:c.686T>C, NM_001271979.1:c.686T>C, NM_001271980.2:c.686T>C, NM_001271980.1:c.686T>C, XM_047442925.1:c.695T>C, NR_073530.1:n.1237T>C, NM_001282305.1:c.635T>C, NR_073531.1:n.1220T>C, NR_073532.1:n.1140T>C, NR_073533.1:n.1078T>C, XM_047442924.1:c.917T>C, NP_006365.2:p.Ile306Thr, XP_011508795.1:p.Ile306Thr, XP_011508798.1:p.Ile306Thr, XP_011508797.1:p.Ile232Thr, XP_011508796.1:p.Ile232Thr, NP_001258907.1:p.Ile306Thr, NP_001258906.1:p.Ile306Thr, NP_001269235.1:p.Ile232Thr, NP_001269236.1:p.Ile212Thr, XP_016858659.1:p.Ile232Thr, NP_001269237.1:p.Ile212Thr, NP_001258908.1:p.Ile229Thr, NP_001258909.1:p.Ile229Thr, XP_047298881.1:p.Ile232Thr, NP_001269234.1:p.Ile212Thr, XP_047298880.1:p.Ile306Thr

      3.

      rs1485066771 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G [Show Flanks]
        Chromosome:
        2:241497664 (GRCh38)
        2:242437079 (GRCh37)
        Canonical SPDI:
        NC_000002.12:241497663:C:A,NC_000002.12:241497663:C:G
        Gene:
        STK25 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.241497664C>A, NC_000002.12:g.241497664C>G, NC_000002.11:g.242437079C>A, NC_000002.11:g.242437079C>G, NM_006374.5:c.1056G>T, NM_006374.5:c.1056G>C, NM_006374.4:c.1056G>T, NM_006374.4:c.1056G>C, XM_011510493.4:c.1056G>T, XM_011510493.4:c.1056G>C, XM_011510493.3:c.1056G>T, XM_011510493.3:c.1056G>C, XM_011510493.2:c.1056G>T, XM_011510493.2:c.1056G>C, XM_011510493.1:c.1056G>T, XM_011510493.1:c.1056G>C, XM_011510496.4:c.941G>T, XM_011510496.4:c.941G>C, XM_011510496.3:c.941G>T, XM_011510496.3:c.941G>C, XM_011510496.2:c.941G>T, XM_011510496.2:c.941G>C, XM_011510496.1:c.941G>T, XM_011510496.1:c.941G>C, XM_011510495.3:c.834G>T, XM_011510495.3:c.834G>C, XM_011510495.2:c.834G>T, XM_011510495.2:c.834G>C, XM_011510495.1:c.834G>T, XM_011510495.1:c.834G>C, XM_011510494.3:c.834G>T, XM_011510494.3:c.834G>C, XM_011510494.2:c.834G>T, XM_011510494.2:c.834G>C, XM_011510494.1:c.834G>T, XM_011510494.1:c.834G>C, NM_001271978.2:c.1056G>T, NM_001271978.2:c.1056G>C, NM_001271978.1:c.1056G>T, NM_001271978.1:c.1056G>C, NM_001271977.2:c.1056G>T, NM_001271977.2:c.1056G>C, NM_001271977.1:c.1056G>T, NM_001271977.1:c.1056G>C, NM_001282306.2:c.834G>T, NM_001282306.2:c.834G>C, NM_001282306.1:c.834G>T, NM_001282306.1:c.834G>C, NM_001282307.2:c.774G>T, NM_001282307.2:c.774G>C, NM_001282307.1:c.774G>T, NM_001282307.1:c.774G>C, XM_017003170.2:c.834G>T, XM_017003170.2:c.834G>C, XM_017003170.1:c.834G>T, XM_017003170.1:c.834G>C, NM_001282308.2:c.774G>T, NM_001282308.2:c.774G>C, NM_001282308.1:c.774G>T, NM_001282308.1:c.774G>C, NM_001271979.2:c.825G>T, NM_001271979.2:c.825G>C, NM_001271979.1:c.825G>T, NM_001271979.1:c.825G>C, NM_001271980.2:c.825G>T, NM_001271980.2:c.825G>C, NM_001271980.1:c.825G>T, NM_001271980.1:c.825G>C, XM_047442925.1:c.834G>T, XM_047442925.1:c.834G>C, NR_073530.1:n.1376G>T, NR_073530.1:n.1376G>C, NM_001282305.1:c.774G>T, NM_001282305.1:c.774G>C, NR_073531.1:n.1359G>T, NR_073531.1:n.1359G>C, NR_073532.1:n.1279G>T, NR_073532.1:n.1279G>C, NR_073533.1:n.1217G>T, NR_073533.1:n.1217G>C, XM_047442924.1:c.941G>T, XM_047442924.1:c.941G>C, NP_006365.2:p.Gln352His, NP_006365.2:p.Gln352His, XP_011508795.1:p.Gln352His, XP_011508795.1:p.Gln352His, XP_011508798.1:p.Ser314Ile, XP_011508798.1:p.Ser314Thr, XP_011508797.1:p.Gln278His, XP_011508797.1:p.Gln278His, XP_011508796.1:p.Gln278His, XP_011508796.1:p.Gln278His, NP_001258907.1:p.Gln352His, NP_001258907.1:p.Gln352His, NP_001258906.1:p.Gln352His, NP_001258906.1:p.Gln352His, NP_001269235.1:p.Gln278His, NP_001269235.1:p.Gln278His, NP_001269236.1:p.Gln258His, NP_001269236.1:p.Gln258His, XP_016858659.1:p.Gln278His, XP_016858659.1:p.Gln278His, NP_001269237.1:p.Gln258His, NP_001269237.1:p.Gln258His, NP_001258908.1:p.Gln275His, NP_001258908.1:p.Gln275His, NP_001258909.1:p.Gln275His, NP_001258909.1:p.Gln275His, XP_047298881.1:p.Gln278His, XP_047298881.1:p.Gln278His, NP_001269234.1:p.Gln258His, NP_001269234.1:p.Gln258His, XP_047298880.1:p.Ser314Ile, XP_047298880.1:p.Ser314Thr

        4.

        rs1484420797 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          2:241500794 (GRCh38)
          2:242440209 (GRCh37)
          Canonical SPDI:
          NC_000002.12:241500793:G:T
          Gene:
          STK25 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,missense_variant,coding_sequence_variant
          HGVS:
          NC_000002.12:g.241500794G>T, NC_000002.11:g.242440209G>T, NM_006374.5:c.264C>A, NM_006374.4:c.264C>A, XM_011510493.4:c.264C>A, XM_011510493.3:c.264C>A, XM_011510493.2:c.264C>A, XM_011510493.1:c.264C>A, XM_011510496.4:c.264C>A, XM_011510496.3:c.264C>A, XM_011510496.2:c.264C>A, XM_011510496.1:c.264C>A, XM_011510495.3:c.42C>A, XM_011510495.2:c.42C>A, XM_011510495.1:c.42C>A, XM_011510494.3:c.42C>A, XM_011510494.2:c.42C>A, XM_011510494.1:c.42C>A, NM_001271978.2:c.264C>A, NM_001271978.1:c.264C>A, NM_001271977.2:c.264C>A, NM_001271977.1:c.264C>A, NM_001282306.2:c.42C>A, NM_001282306.1:c.42C>A, NM_001282307.2:c.-19C>A, NM_001282307.1:c.-19C>A, XM_017003170.2:c.42C>A, XM_017003170.1:c.42C>A, NM_001282308.2:c.-19C>A, NM_001282308.1:c.-19C>A, NM_001271979.2:c.33C>A, NM_001271979.1:c.33C>A, NM_001271980.2:c.33C>A, NM_001271980.1:c.33C>A, XM_047442925.1:c.42C>A, NR_073530.1:n.584C>A, NM_001282305.1:c.-19C>A, NR_073531.1:n.567C>A, NR_073532.1:n.487C>A, NR_073533.1:n.425C>A, XM_047442924.1:c.264C>A, NP_006365.2:p.Ser88Arg, XP_011508795.1:p.Ser88Arg, XP_011508798.1:p.Ser88Arg, XP_011508797.1:p.Ser14Arg, XP_011508796.1:p.Ser14Arg, NP_001258907.1:p.Ser88Arg, NP_001258906.1:p.Ser88Arg, NP_001269235.1:p.Ser14Arg, XP_016858659.1:p.Ser14Arg, NP_001258908.1:p.Ser11Arg, NP_001258909.1:p.Ser11Arg, XP_047298881.1:p.Ser14Arg, XP_047298880.1:p.Ser88Arg

          5.

          rs1483098325 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:241501702 (GRCh38)
            2:242441117 (GRCh37)
            Canonical SPDI:
            NC_000002.12:241501701:G:A
            Gene:
            STK25 (Varview)
            Functional Consequence:
            stop_gained,intron_variant,5_prime_UTR_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000031/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.241501702G>A, NC_000002.11:g.242441117G>A, NM_006374.5:c.37C>T, NM_006374.4:c.37C>T, XM_011510493.4:c.37C>T, XM_011510493.3:c.37C>T, XM_011510493.2:c.37C>T, XM_011510493.1:c.37C>T, XM_011510496.4:c.37C>T, XM_011510496.3:c.37C>T, XM_011510496.2:c.37C>T, XM_011510496.1:c.37C>T, XM_011510495.3:c.-136C>T, XM_011510495.2:c.-136C>T, XM_011510495.1:c.-136C>T, XM_011510494.3:c.-136C>T, XM_011510494.2:c.-136C>T, XM_011510494.1:c.-136C>T, NM_001271978.2:c.37C>T, NM_001271978.1:c.37C>T, NM_001271977.2:c.37C>T, NM_001271977.1:c.37C>T, NM_001282306.2:c.-136C>T, NM_001282306.1:c.-136C>T, NM_001282307.2:c.-246C>T, NM_001282307.1:c.-246C>T, XM_017003170.2:c.-136C>T, XM_017003170.1:c.-136C>T, NM_001282308.2:c.-246C>T, NM_001282308.1:c.-246C>T, XM_047442925.1:c.-136C>T, NR_073530.1:n.357C>T, NM_001282305.1:c.-246C>T, NR_073531.1:n.390C>T, NR_073532.1:n.260C>T, NR_073533.1:n.198C>T, XM_047442924.1:c.37C>T, NP_006365.2:p.Arg13Ter, XP_011508795.1:p.Arg13Ter, XP_011508798.1:p.Arg13Ter, NP_001258907.1:p.Arg13Ter, NP_001258906.1:p.Arg13Ter, XP_047298880.1:p.Arg13Ter

            6.

            rs1469187428 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:241498253 (GRCh38)
              2:242437668 (GRCh37)
              Canonical SPDI:
              NC_000002.12:241498252:G:A
              Gene:
              STK25 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by cluster
              HGVS:
              NC_000002.12:g.241498253G>A, NC_000002.11:g.242437668G>A, NM_006374.5:c.1014C>T, NM_006374.4:c.1014C>T, XM_011510493.4:c.1014C>T, XM_011510493.3:c.1014C>T, XM_011510493.2:c.1014C>T, XM_011510493.1:c.1014C>T, XM_011510495.3:c.792C>T, XM_011510495.2:c.792C>T, XM_011510495.1:c.792C>T, XM_011510494.3:c.792C>T, XM_011510494.2:c.792C>T, XM_011510494.1:c.792C>T, NM_001271978.2:c.1014C>T, NM_001271978.1:c.1014C>T, NM_001271977.2:c.1014C>T, NM_001271977.1:c.1014C>T, NM_001282306.2:c.792C>T, NM_001282306.1:c.792C>T, NM_001282307.2:c.732C>T, NM_001282307.1:c.732C>T, XM_017003170.2:c.792C>T, XM_017003170.1:c.792C>T, NM_001282308.2:c.732C>T, NM_001282308.1:c.732C>T, NM_001271979.2:c.783C>T, NM_001271979.1:c.783C>T, NM_001271980.2:c.783C>T, NM_001271980.1:c.783C>T, XM_047442925.1:c.792C>T, NR_073530.1:n.1334C>T, NM_001282305.1:c.732C>T, NR_073531.1:n.1317C>T, NR_073532.1:n.1237C>T, NR_073533.1:n.1175C>T

              7.

              rs1467020381 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:241499166 (GRCh38)
                2:242438581 (GRCh37)
                Canonical SPDI:
                NC_000002.12:241499165:G:A
                Gene:
                STK25 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000056/2 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000019/5 (TOPMED)
                A=0.000029/4 (GnomAD)
                HGVS:
                NC_000002.12:g.241499166G>A, NC_000002.11:g.242438581G>A, NM_006374.5:c.594C>T, NM_006374.4:c.594C>T, XM_011510493.4:c.594C>T, XM_011510493.3:c.594C>T, XM_011510493.2:c.594C>T, XM_011510493.1:c.594C>T, XM_011510496.4:c.594C>T, XM_011510496.3:c.594C>T, XM_011510496.2:c.594C>T, XM_011510496.1:c.594C>T, XM_011510495.3:c.372C>T, XM_011510495.2:c.372C>T, XM_011510495.1:c.372C>T, XM_011510494.3:c.372C>T, XM_011510494.2:c.372C>T, XM_011510494.1:c.372C>T, NM_001271978.2:c.594C>T, NM_001271978.1:c.594C>T, NM_001271977.2:c.594C>T, NM_001271977.1:c.594C>T, NM_001282306.2:c.372C>T, NM_001282306.1:c.372C>T, NM_001282307.2:c.312C>T, NM_001282307.1:c.312C>T, XM_017003170.2:c.372C>T, XM_017003170.1:c.372C>T, NM_001282308.2:c.312C>T, NM_001282308.1:c.312C>T, NM_001271979.2:c.363C>T, NM_001271979.1:c.363C>T, NM_001271980.2:c.363C>T, NM_001271980.1:c.363C>T, XM_047442925.1:c.372C>T, NR_073530.1:n.914C>T, NM_001282305.1:c.312C>T, NR_073531.1:n.897C>T, NR_073532.1:n.817C>T, NR_073533.1:n.755C>T, XM_047442924.1:c.594C>T

                8.

                rs1466966937 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:241498742 (GRCh38)
                  2:242438157 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:241498741:G:A
                  Gene:
                  STK25 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000011/3 (TOPMED)
                  A=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000002.12:g.241498742G>A, NC_000002.11:g.242438157G>A, NM_006374.5:c.814C>T, NM_006374.4:c.814C>T, XM_011510493.4:c.814C>T, XM_011510493.3:c.814C>T, XM_011510493.2:c.814C>T, XM_011510493.1:c.814C>T, XM_011510496.4:c.814C>T, XM_011510496.3:c.814C>T, XM_011510496.2:c.814C>T, XM_011510496.1:c.814C>T, XM_011510495.3:c.592C>T, XM_011510495.2:c.592C>T, XM_011510495.1:c.592C>T, XM_011510494.3:c.592C>T, XM_011510494.2:c.592C>T, XM_011510494.1:c.592C>T, NM_001271978.2:c.814C>T, NM_001271978.1:c.814C>T, NM_001271977.2:c.814C>T, NM_001271977.1:c.814C>T, NM_001282306.2:c.592C>T, NM_001282306.1:c.592C>T, NM_001282307.2:c.532C>T, NM_001282307.1:c.532C>T, XM_017003170.2:c.592C>T, XM_017003170.1:c.592C>T, NM_001282308.2:c.532C>T, NM_001282308.1:c.532C>T, NM_001271979.2:c.583C>T, NM_001271979.1:c.583C>T, NM_001271980.2:c.583C>T, NM_001271980.1:c.583C>T, XM_047442925.1:c.592C>T, NR_073530.1:n.1134C>T, NM_001282305.1:c.532C>T, NR_073531.1:n.1117C>T, NR_073532.1:n.1037C>T, NR_073533.1:n.975C>T, XM_047442924.1:c.814C>T, NP_006365.2:p.Arg272Cys, XP_011508795.1:p.Arg272Cys, XP_011508798.1:p.Arg272Cys, XP_011508797.1:p.Arg198Cys, XP_011508796.1:p.Arg198Cys, NP_001258907.1:p.Arg272Cys, NP_001258906.1:p.Arg272Cys, NP_001269235.1:p.Arg198Cys, NP_001269236.1:p.Arg178Cys, XP_016858659.1:p.Arg198Cys, NP_001269237.1:p.Arg178Cys, NP_001258908.1:p.Arg195Cys, NP_001258909.1:p.Arg195Cys, XP_047298881.1:p.Arg198Cys, NP_001269234.1:p.Arg178Cys, XP_047298880.1:p.Arg272Cys

                  9.

                  rs1466914104 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:241499140 (GRCh38)
                    2:242438555 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:241499139:T:C
                    Gene:
                    STK25 (Varview)
                    Functional Consequence:
                    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_000002.12:g.241499140T>C, NC_000002.11:g.242438555T>C, NM_006374.5:c.620A>G, NM_006374.4:c.620A>G, XM_011510493.4:c.620A>G, XM_011510493.3:c.620A>G, XM_011510493.2:c.620A>G, XM_011510493.1:c.620A>G, XM_011510496.4:c.620A>G, XM_011510496.3:c.620A>G, XM_011510496.2:c.620A>G, XM_011510496.1:c.620A>G, XM_011510495.3:c.398A>G, XM_011510495.2:c.398A>G, XM_011510495.1:c.398A>G, XM_011510494.3:c.398A>G, XM_011510494.2:c.398A>G, XM_011510494.1:c.398A>G, NM_001271978.2:c.620A>G, NM_001271978.1:c.620A>G, NM_001271977.2:c.620A>G, NM_001271977.1:c.620A>G, NM_001282306.2:c.398A>G, NM_001282306.1:c.398A>G, NM_001282307.2:c.338A>G, NM_001282307.1:c.338A>G, XM_017003170.2:c.398A>G, XM_017003170.1:c.398A>G, NM_001282308.2:c.338A>G, NM_001282308.1:c.338A>G, NM_001271979.2:c.389A>G, NM_001271979.1:c.389A>G, NM_001271980.2:c.389A>G, NM_001271980.1:c.389A>G, XM_047442925.1:c.398A>G, NR_073530.1:n.940A>G, NM_001282305.1:c.338A>G, NR_073531.1:n.923A>G, NR_073532.1:n.843A>G, NR_073533.1:n.781A>G, XM_047442924.1:c.620A>G, NP_006365.2:p.Glu207Gly, XP_011508795.1:p.Glu207Gly, XP_011508798.1:p.Glu207Gly, XP_011508797.1:p.Glu133Gly, XP_011508796.1:p.Glu133Gly, NP_001258907.1:p.Glu207Gly, NP_001258906.1:p.Glu207Gly, NP_001269235.1:p.Glu133Gly, NP_001269236.1:p.Glu113Gly, XP_016858659.1:p.Glu133Gly, NP_001269237.1:p.Glu113Gly, NP_001258908.1:p.Glu130Gly, NP_001258909.1:p.Glu130Gly, XP_047298881.1:p.Glu133Gly, NP_001269234.1:p.Glu113Gly, XP_047298880.1:p.Glu207Gly

                    10.

                    rs1465265667 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:241500253 (GRCh38)
                      2:242439668 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:241500252:T:C
                      Gene:
                      STK25 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.241500253T>C, NC_000002.11:g.242439668T>C, NM_006374.5:c.347A>G, NM_006374.4:c.347A>G, XM_011510493.4:c.347A>G, XM_011510493.3:c.347A>G, XM_011510493.2:c.347A>G, XM_011510493.1:c.347A>G, XM_011510496.4:c.347A>G, XM_011510496.3:c.347A>G, XM_011510496.2:c.347A>G, XM_011510496.1:c.347A>G, XM_011510495.3:c.125A>G, XM_011510495.2:c.125A>G, XM_011510495.1:c.125A>G, XM_011510494.3:c.125A>G, XM_011510494.2:c.125A>G, XM_011510494.1:c.125A>G, NM_001271978.2:c.347A>G, NM_001271978.1:c.347A>G, NM_001271977.2:c.347A>G, NM_001271977.1:c.347A>G, NM_001282306.2:c.125A>G, NM_001282306.1:c.125A>G, NM_001282307.2:c.65A>G, NM_001282307.1:c.65A>G, XM_017003170.2:c.125A>G, XM_017003170.1:c.125A>G, NM_001282308.2:c.65A>G, NM_001282308.1:c.65A>G, NM_001271979.2:c.116A>G, NM_001271979.1:c.116A>G, NM_001271980.2:c.116A>G, NM_001271980.1:c.116A>G, XM_047442925.1:c.125A>G, NR_073530.1:n.667A>G, NM_001282305.1:c.65A>G, NR_073531.1:n.650A>G, NR_073532.1:n.570A>G, NR_073533.1:n.508A>G, XM_047442924.1:c.347A>G, NP_006365.2:p.Tyr116Cys, XP_011508795.1:p.Tyr116Cys, XP_011508798.1:p.Tyr116Cys, XP_011508797.1:p.Tyr42Cys, XP_011508796.1:p.Tyr42Cys, NP_001258907.1:p.Tyr116Cys, NP_001258906.1:p.Tyr116Cys, NP_001269235.1:p.Tyr42Cys, NP_001269236.1:p.Tyr22Cys, XP_016858659.1:p.Tyr42Cys, NP_001269237.1:p.Tyr22Cys, NP_001258908.1:p.Tyr39Cys, NP_001258909.1:p.Tyr39Cys, XP_047298881.1:p.Tyr42Cys, NP_001269234.1:p.Tyr22Cys, XP_047298880.1:p.Tyr116Cys

                      11.

                      rs1461796408 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:241498325 (GRCh38)
                        2:242437740 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:241498324:C:T
                        Gene:
                        STK25 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.241498325C>T, NC_000002.11:g.242437740C>T, NM_006374.5:c.942G>A, NM_006374.4:c.942G>A, XM_011510493.4:c.942G>A, XM_011510493.3:c.942G>A, XM_011510493.2:c.942G>A, XM_011510493.1:c.942G>A, XM_011510495.3:c.720G>A, XM_011510495.2:c.720G>A, XM_011510495.1:c.720G>A, XM_011510494.3:c.720G>A, XM_011510494.2:c.720G>A, XM_011510494.1:c.720G>A, NM_001271978.2:c.942G>A, NM_001271978.1:c.942G>A, NM_001271977.2:c.942G>A, NM_001271977.1:c.942G>A, NM_001282306.2:c.720G>A, NM_001282306.1:c.720G>A, NM_001282307.2:c.660G>A, NM_001282307.1:c.660G>A, XM_017003170.2:c.720G>A, XM_017003170.1:c.720G>A, NM_001282308.2:c.660G>A, NM_001282308.1:c.660G>A, NM_001271979.2:c.711G>A, NM_001271979.1:c.711G>A, NM_001271980.2:c.711G>A, NM_001271980.1:c.711G>A, XM_047442925.1:c.720G>A, NR_073530.1:n.1262G>A, NM_001282305.1:c.660G>A, NR_073531.1:n.1245G>A, NR_073532.1:n.1165G>A, NR_073533.1:n.1103G>A

                        12.

                        rs1459467490 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:241498752 (GRCh38)
                          2:242438167 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:241498751:C:T
                          Gene:
                          STK25 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          NC_000002.12:g.241498752C>T, NC_000002.11:g.242438167C>T, NM_006374.5:c.804G>A, NM_006374.4:c.804G>A, XM_011510493.4:c.804G>A, XM_011510493.3:c.804G>A, XM_011510493.2:c.804G>A, XM_011510493.1:c.804G>A, XM_011510496.4:c.804G>A, XM_011510496.3:c.804G>A, XM_011510496.2:c.804G>A, XM_011510496.1:c.804G>A, XM_011510495.3:c.582G>A, XM_011510495.2:c.582G>A, XM_011510495.1:c.582G>A, XM_011510494.3:c.582G>A, XM_011510494.2:c.582G>A, XM_011510494.1:c.582G>A, NM_001271978.2:c.804G>A, NM_001271978.1:c.804G>A, NM_001271977.2:c.804G>A, NM_001271977.1:c.804G>A, NM_001282306.2:c.582G>A, NM_001282306.1:c.582G>A, NM_001282307.2:c.522G>A, NM_001282307.1:c.522G>A, XM_017003170.2:c.582G>A, XM_017003170.1:c.582G>A, NM_001282308.2:c.522G>A, NM_001282308.1:c.522G>A, NM_001271979.2:c.573G>A, NM_001271979.1:c.573G>A, NM_001271980.2:c.573G>A, NM_001271980.1:c.573G>A, XM_047442925.1:c.582G>A, NR_073530.1:n.1124G>A, NM_001282305.1:c.522G>A, NR_073531.1:n.1107G>A, NR_073532.1:n.1027G>A, NR_073533.1:n.965G>A, XM_047442924.1:c.804G>A

                          13.

                          rs1459319190 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            2:241499034 (GRCh38)
                            2:242438449 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:241499033:GGG:GG
                            Gene:
                            STK25 (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GG=0.000051/1 (ALFA)
                            -=0.000004/1 (GnomAD_exomes)
                            -=0.000004/1 (TOPMED)
                            -=0.00008/1 (GoESP)
                            HGVS:
                            NC_000002.12:g.241499036del, NC_000002.11:g.242438451del, NM_006374.5:c.726del, NM_006374.4:c.726del, XM_011510493.4:c.726del, XM_011510493.3:c.726del, XM_011510493.2:c.726del, XM_011510493.1:c.726del, XM_011510496.4:c.726del, XM_011510496.3:c.726del, XM_011510496.2:c.726del, XM_011510496.1:c.726del, XM_011510495.3:c.504del, XM_011510495.2:c.504del, XM_011510495.1:c.504del, XM_011510494.3:c.504del, XM_011510494.2:c.504del, XM_011510494.1:c.504del, NM_001271978.2:c.726del, NM_001271978.1:c.726del, NM_001271977.2:c.726del, NM_001271977.1:c.726del, NM_001282306.2:c.504del, NM_001282306.1:c.504del, NM_001282307.2:c.444del, NM_001282307.1:c.444del, XM_017003170.2:c.504del, XM_017003170.1:c.504del, NM_001282308.2:c.444del, NM_001282308.1:c.444del, NM_001271979.2:c.495del, NM_001271979.1:c.495del, NM_001271980.2:c.495del, NM_001271980.1:c.495del, XM_047442925.1:c.504del, NR_073530.1:n.1046del, NM_001282305.1:c.444del, NR_073531.1:n.1029del, NR_073532.1:n.949del, NR_073533.1:n.887del, XM_047442924.1:c.726del, NP_006365.2:p.Phe243fs, XP_011508795.1:p.Phe243fs, XP_011508798.1:p.Phe243fs, XP_011508797.1:p.Phe169fs, XP_011508796.1:p.Phe169fs, NP_001258907.1:p.Phe243fs, NP_001258906.1:p.Phe243fs, NP_001269235.1:p.Phe169fs, NP_001269236.1:p.Phe149fs, XP_016858659.1:p.Phe169fs, NP_001269237.1:p.Phe149fs, NP_001258908.1:p.Phe166fs, NP_001258909.1:p.Phe166fs, XP_047298881.1:p.Phe169fs, NP_001269234.1:p.Phe149fs, XP_047298880.1:p.Phe243fs

                            14.

                            rs1457820487 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              2:241501523 (GRCh38)
                              2:242440938 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:241501522:C:A,NC_000002.12:241501522:C:T
                              Gene:
                              STK25 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
                              HGVS:
                              NC_000002.12:g.241501523C>A, NC_000002.12:g.241501523C>T, NC_000002.11:g.242440938C>A, NC_000002.11:g.242440938C>T, NM_006374.5:c.216G>T, NM_006374.5:c.216G>A, NM_006374.4:c.216G>T, NM_006374.4:c.216G>A, XM_011510493.4:c.216G>T, XM_011510493.4:c.216G>A, XM_011510493.3:c.216G>T, XM_011510493.3:c.216G>A, XM_011510493.2:c.216G>T, XM_011510493.2:c.216G>A, XM_011510493.1:c.216G>T, XM_011510493.1:c.216G>A, XM_011510496.4:c.216G>T, XM_011510496.4:c.216G>A, XM_011510496.3:c.216G>T, XM_011510496.3:c.216G>A, XM_011510496.2:c.216G>T, XM_011510496.2:c.216G>A, XM_011510496.1:c.216G>T, XM_011510496.1:c.216G>A, NM_001271978.2:c.216G>T, NM_001271978.2:c.216G>A, NM_001271978.1:c.216G>T, NM_001271978.1:c.216G>A, NM_001271977.2:c.216G>T, NM_001271977.2:c.216G>A, NM_001271977.1:c.216G>T, NM_001271977.1:c.216G>A, NM_001282307.2:c.-67G>T, NM_001282307.2:c.-67G>A, NM_001282307.1:c.-67G>T, NM_001282307.1:c.-67G>A, NM_001282308.2:c.-67G>T, NM_001282308.2:c.-67G>A, NM_001282308.1:c.-67G>T, NM_001282308.1:c.-67G>A, NR_073530.1:n.536G>T, NR_073530.1:n.536G>A, NM_001282305.1:c.-67G>T, NM_001282305.1:c.-67G>A, NR_073532.1:n.439G>T, NR_073532.1:n.439G>A, NR_073533.1:n.377G>T, NR_073533.1:n.377G>A, XM_047442924.1:c.216G>T, XM_047442924.1:c.216G>A, NP_006365.2:p.Gln72His, XP_011508795.1:p.Gln72His, XP_011508798.1:p.Gln72His, NP_001258907.1:p.Gln72His, NP_001258906.1:p.Gln72His, XP_047298880.1:p.Gln72His

                              15.

                              rs1455320125 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:241501633 (GRCh38)
                                2:242441048 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:241501632:T:C
                                Gene:
                                STK25 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.241501633T>C, NC_000002.11:g.242441048T>C, NM_006374.5:c.106A>G, NM_006374.4:c.106A>G, XM_011510493.4:c.106A>G, XM_011510493.3:c.106A>G, XM_011510493.2:c.106A>G, XM_011510493.1:c.106A>G, XM_011510496.4:c.106A>G, XM_011510496.3:c.106A>G, XM_011510496.2:c.106A>G, XM_011510496.1:c.106A>G, XM_011510495.3:c.-67A>G, XM_011510495.2:c.-67A>G, XM_011510495.1:c.-67A>G, XM_011510494.3:c.-67A>G, XM_011510494.2:c.-67A>G, XM_011510494.1:c.-67A>G, NM_001271978.2:c.106A>G, NM_001271978.1:c.106A>G, NM_001271977.2:c.106A>G, NM_001271977.1:c.106A>G, NM_001282306.2:c.-67A>G, NM_001282306.1:c.-67A>G, NM_001282307.2:c.-177A>G, NM_001282307.1:c.-177A>G, XM_017003170.2:c.-67A>G, XM_017003170.1:c.-67A>G, NM_001282308.2:c.-177A>G, NM_001282308.1:c.-177A>G, XM_047442925.1:c.-67A>G, NR_073530.1:n.426A>G, NM_001282305.1:c.-177A>G, NR_073531.1:n.459A>G, NR_073532.1:n.329A>G, NR_073533.1:n.267A>G, XM_047442924.1:c.106A>G, NP_006365.2:p.Lys36Glu, XP_011508795.1:p.Lys36Glu, XP_011508798.1:p.Lys36Glu, NP_001258907.1:p.Lys36Glu, NP_001258906.1:p.Lys36Glu, XP_047298880.1:p.Lys36Glu

                                16.

                                rs1455218685 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:241498763 (GRCh38)
                                  2:242438178 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:241498762:G:A
                                  Gene:
                                  STK25 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (GnomAD_exomes)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.241498763G>A, NC_000002.11:g.242438178G>A, NM_006374.5:c.793C>T, NM_006374.4:c.793C>T, XM_011510493.4:c.793C>T, XM_011510493.3:c.793C>T, XM_011510493.2:c.793C>T, XM_011510493.1:c.793C>T, XM_011510496.4:c.793C>T, XM_011510496.3:c.793C>T, XM_011510496.2:c.793C>T, XM_011510496.1:c.793C>T, XM_011510495.3:c.571C>T, XM_011510495.2:c.571C>T, XM_011510495.1:c.571C>T, XM_011510494.3:c.571C>T, XM_011510494.2:c.571C>T, XM_011510494.1:c.571C>T, NM_001271978.2:c.793C>T, NM_001271978.1:c.793C>T, NM_001271977.2:c.793C>T, NM_001271977.1:c.793C>T, NM_001282306.2:c.571C>T, NM_001282306.1:c.571C>T, NM_001282307.2:c.511C>T, NM_001282307.1:c.511C>T, XM_017003170.2:c.571C>T, XM_017003170.1:c.571C>T, NM_001282308.2:c.511C>T, NM_001282308.1:c.511C>T, NM_001271979.2:c.562C>T, NM_001271979.1:c.562C>T, NM_001271980.2:c.562C>T, NM_001271980.1:c.562C>T, XM_047442925.1:c.571C>T, NR_073530.1:n.1113C>T, NM_001282305.1:c.511C>T, NR_073531.1:n.1096C>T, NR_073532.1:n.1016C>T, NR_073533.1:n.954C>T, XM_047442924.1:c.793C>T

                                  17.

                                  rs1454791691 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    2:241499036 (GRCh38)
                                    2:242438451 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:241499035:G:C
                                    Gene:
                                    STK25 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000111/1 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.241499036G>C, NC_000002.11:g.242438451G>C, NM_006374.5:c.724C>G, NM_006374.4:c.724C>G, XM_011510493.4:c.724C>G, XM_011510493.3:c.724C>G, XM_011510493.2:c.724C>G, XM_011510493.1:c.724C>G, XM_011510496.4:c.724C>G, XM_011510496.3:c.724C>G, XM_011510496.2:c.724C>G, XM_011510496.1:c.724C>G, XM_011510495.3:c.502C>G, XM_011510495.2:c.502C>G, XM_011510495.1:c.502C>G, XM_011510494.3:c.502C>G, XM_011510494.2:c.502C>G, XM_011510494.1:c.502C>G, NM_001271978.2:c.724C>G, NM_001271978.1:c.724C>G, NM_001271977.2:c.724C>G, NM_001271977.1:c.724C>G, NM_001282306.2:c.502C>G, NM_001282306.1:c.502C>G, NM_001282307.2:c.442C>G, NM_001282307.1:c.442C>G, XM_017003170.2:c.502C>G, XM_017003170.1:c.502C>G, NM_001282308.2:c.442C>G, NM_001282308.1:c.442C>G, NM_001271979.2:c.493C>G, NM_001271979.1:c.493C>G, NM_001271980.2:c.493C>G, NM_001271980.1:c.493C>G, XM_047442925.1:c.502C>G, NR_073530.1:n.1044C>G, NM_001282305.1:c.442C>G, NR_073531.1:n.1027C>G, NR_073532.1:n.947C>G, NR_073533.1:n.885C>G, XM_047442924.1:c.724C>G, NP_006365.2:p.Pro242Ala, XP_011508795.1:p.Pro242Ala, XP_011508798.1:p.Pro242Ala, XP_011508797.1:p.Pro168Ala, XP_011508796.1:p.Pro168Ala, NP_001258907.1:p.Pro242Ala, NP_001258906.1:p.Pro242Ala, NP_001269235.1:p.Pro168Ala, NP_001269236.1:p.Pro148Ala, XP_016858659.1:p.Pro168Ala, NP_001269237.1:p.Pro148Ala, NP_001258908.1:p.Pro165Ala, NP_001258909.1:p.Pro165Ala, XP_047298881.1:p.Pro168Ala, NP_001269234.1:p.Pro148Ala, XP_047298880.1:p.Pro242Ala

                                    18.

                                    rs1452803016 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:241501701 (GRCh38)
                                      2:242441116 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:241501700:C:T
                                      Gene:
                                      STK25 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000028/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.241501701C>T, NC_000002.11:g.242441116C>T, NM_006374.5:c.38G>A, NM_006374.4:c.38G>A, XM_011510493.4:c.38G>A, XM_011510493.3:c.38G>A, XM_011510493.2:c.38G>A, XM_011510493.1:c.38G>A, XM_011510496.4:c.38G>A, XM_011510496.3:c.38G>A, XM_011510496.2:c.38G>A, XM_011510496.1:c.38G>A, XM_011510495.3:c.-135G>A, XM_011510495.2:c.-135G>A, XM_011510495.1:c.-135G>A, XM_011510494.3:c.-135G>A, XM_011510494.2:c.-135G>A, XM_011510494.1:c.-135G>A, NM_001271978.2:c.38G>A, NM_001271978.1:c.38G>A, NM_001271977.2:c.38G>A, NM_001271977.1:c.38G>A, NM_001282306.2:c.-135G>A, NM_001282306.1:c.-135G>A, NM_001282307.2:c.-245G>A, NM_001282307.1:c.-245G>A, XM_017003170.2:c.-135G>A, XM_017003170.1:c.-135G>A, NM_001282308.2:c.-245G>A, NM_001282308.1:c.-245G>A, XM_047442925.1:c.-135G>A, NR_073530.1:n.358G>A, NM_001282305.1:c.-245G>A, NR_073531.1:n.391G>A, NR_073532.1:n.261G>A, NR_073533.1:n.199G>A, XM_047442924.1:c.38G>A, NP_006365.2:p.Arg13Gln, XP_011508795.1:p.Arg13Gln, XP_011508798.1:p.Arg13Gln, NP_001258907.1:p.Arg13Gln, NP_001258906.1:p.Arg13Gln, XP_047298880.1:p.Arg13Gln

                                      19.

                                      rs1447655305 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:241498709 (GRCh38)
                                        2:242438124 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:241498708:G:C
                                        Gene:
                                        STK25 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_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_000002.12:g.241498709G>C, NC_000002.11:g.242438124G>C, NM_006374.5:c.847C>G, NM_006374.4:c.847C>G, XM_011510493.4:c.847C>G, XM_011510493.3:c.847C>G, XM_011510493.2:c.847C>G, XM_011510493.1:c.847C>G, XM_011510496.4:c.847C>G, XM_011510496.3:c.847C>G, XM_011510496.2:c.847C>G, XM_011510496.1:c.847C>G, XM_011510495.3:c.625C>G, XM_011510495.2:c.625C>G, XM_011510495.1:c.625C>G, XM_011510494.3:c.625C>G, XM_011510494.2:c.625C>G, XM_011510494.1:c.625C>G, NM_001271978.2:c.847C>G, NM_001271978.1:c.847C>G, NM_001271977.2:c.847C>G, NM_001271977.1:c.847C>G, NM_001282306.2:c.625C>G, NM_001282306.1:c.625C>G, NM_001282307.2:c.565C>G, NM_001282307.1:c.565C>G, XM_017003170.2:c.625C>G, XM_017003170.1:c.625C>G, NM_001282308.2:c.565C>G, NM_001282308.1:c.565C>G, NM_001271979.2:c.616C>G, NM_001271979.1:c.616C>G, NM_001271980.2:c.616C>G, NM_001271980.1:c.616C>G, XM_047442925.1:c.625C>G, NR_073530.1:n.1167C>G, NM_001282305.1:c.565C>G, NR_073531.1:n.1150C>G, NR_073532.1:n.1070C>G, NR_073533.1:n.1008C>G, XM_047442924.1:c.847C>G, NP_006365.2:p.Leu283Val, XP_011508795.1:p.Leu283Val, XP_011508798.1:p.Leu283Val, XP_011508797.1:p.Leu209Val, XP_011508796.1:p.Leu209Val, NP_001258907.1:p.Leu283Val, NP_001258906.1:p.Leu283Val, NP_001269235.1:p.Leu209Val, NP_001269236.1:p.Leu189Val, XP_016858659.1:p.Leu209Val, NP_001269237.1:p.Leu189Val, NP_001258908.1:p.Leu206Val, NP_001258909.1:p.Leu206Val, XP_047298881.1:p.Leu209Val, NP_001269234.1:p.Leu189Val, XP_047298880.1:p.Leu283Val

                                        20.

                                        rs1446437605 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          2:241497636 (GRCh38)
                                          2:242437051 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:241497635:C:A,NC_000002.12:241497635:C:G
                                          Gene:
                                          STK25 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.241497636C>A, NC_000002.12:g.241497636C>G, NC_000002.11:g.242437051C>A, NC_000002.11:g.242437051C>G, NM_006374.5:c.1084G>T, NM_006374.5:c.1084G>C, NM_006374.4:c.1084G>T, NM_006374.4:c.1084G>C, XM_011510493.4:c.1084G>T, XM_011510493.4:c.1084G>C, XM_011510493.3:c.1084G>T, XM_011510493.3:c.1084G>C, XM_011510493.2:c.1084G>T, XM_011510493.2:c.1084G>C, XM_011510493.1:c.1084G>T, XM_011510493.1:c.1084G>C, XM_011510496.4:c.969G>T, XM_011510496.4:c.969G>C, XM_011510496.3:c.969G>T, XM_011510496.3:c.969G>C, XM_011510496.2:c.969G>T, XM_011510496.2:c.969G>C, XM_011510496.1:c.969G>T, XM_011510496.1:c.969G>C, XM_011510495.3:c.862G>T, XM_011510495.3:c.862G>C, XM_011510495.2:c.862G>T, XM_011510495.2:c.862G>C, XM_011510495.1:c.862G>T, XM_011510495.1:c.862G>C, XM_011510494.3:c.862G>T, XM_011510494.3:c.862G>C, XM_011510494.2:c.862G>T, XM_011510494.2:c.862G>C, XM_011510494.1:c.862G>T, XM_011510494.1:c.862G>C, NM_001271978.2:c.1084G>T, NM_001271978.2:c.1084G>C, NM_001271978.1:c.1084G>T, NM_001271978.1:c.1084G>C, NM_001271977.2:c.1084G>T, NM_001271977.2:c.1084G>C, NM_001271977.1:c.1084G>T, NM_001271977.1:c.1084G>C, NM_001282306.2:c.862G>T, NM_001282306.2:c.862G>C, NM_001282306.1:c.862G>T, NM_001282306.1:c.862G>C, NM_001282307.2:c.802G>T, NM_001282307.2:c.802G>C, NM_001282307.1:c.802G>T, NM_001282307.1:c.802G>C, XM_017003170.2:c.862G>T, XM_017003170.2:c.862G>C, XM_017003170.1:c.862G>T, XM_017003170.1:c.862G>C, NM_001282308.2:c.802G>T, NM_001282308.2:c.802G>C, NM_001282308.1:c.802G>T, NM_001282308.1:c.802G>C, NM_001271979.2:c.853G>T, NM_001271979.2:c.853G>C, NM_001271979.1:c.853G>T, NM_001271979.1:c.853G>C, NM_001271980.2:c.853G>T, NM_001271980.2:c.853G>C, NM_001271980.1:c.853G>T, NM_001271980.1:c.853G>C, XM_047442925.1:c.862G>T, XM_047442925.1:c.862G>C, NR_073530.1:n.1404G>T, NR_073530.1:n.1404G>C, NM_001282305.1:c.802G>T, NM_001282305.1:c.802G>C, NR_073531.1:n.1387G>T, NR_073531.1:n.1387G>C, NR_073532.1:n.1307G>T, NR_073532.1:n.1307G>C, NR_073533.1:n.1245G>T, NR_073533.1:n.1245G>C, XM_047442924.1:c.969G>T, XM_047442924.1:c.969G>C, NP_006365.2:p.Val362Phe, NP_006365.2:p.Val362Leu, XP_011508795.1:p.Val362Phe, XP_011508795.1:p.Val362Leu, XP_011508798.1:p.Trp323Cys, XP_011508798.1:p.Trp323Cys, XP_011508797.1:p.Val288Phe, XP_011508797.1:p.Val288Leu, XP_011508796.1:p.Val288Phe, XP_011508796.1:p.Val288Leu, NP_001258907.1:p.Val362Phe, NP_001258907.1:p.Val362Leu, NP_001258906.1:p.Val362Phe, NP_001258906.1:p.Val362Leu, NP_001269235.1:p.Val288Phe, NP_001269235.1:p.Val288Leu, NP_001269236.1:p.Val268Phe, NP_001269236.1:p.Val268Leu, XP_016858659.1:p.Val288Phe, XP_016858659.1:p.Val288Leu, NP_001269237.1:p.Val268Phe, NP_001269237.1:p.Val268Leu, NP_001258908.1:p.Val285Phe, NP_001258908.1:p.Val285Leu, NP_001258909.1:p.Val285Phe, NP_001258909.1:p.Val285Leu, XP_047298881.1:p.Val288Phe, XP_047298881.1:p.Val288Leu, NP_001269234.1:p.Val268Phe, NP_001269234.1:p.Val268Leu, XP_047298880.1:p.Trp323Cys, XP_047298880.1:p.Trp323Cys

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