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Items: 1 to 20 of 428

1.

rs1490715135 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    X:47447483 (GRCh38)
    X:47306882 (GRCh37)
    Canonical SPDI:
    NC_000023.11:47447482:T:C,NC_000023.11:47447482:T:G
    Gene:
    ZNF41 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    C=0.000005/1 (GnomAD_exomes)
    G=0.00001/1 (GnomAD)
    HGVS:
    NC_000023.11:g.47447483T>C, NC_000023.11:g.47447483T>G, NC_000023.10:g.47306882T>C, NC_000023.10:g.47306882T>G, NG_008238.1:g.40464A>G, NG_008238.1:g.40464A>C, NM_007130.4:c.2287A>G, NM_007130.4:c.2287A>C, NM_007130.3:c.2287A>G, NM_007130.3:c.2287A>C, NM_007130.2:c.2287A>G, NM_007130.2:c.2287A>C, NM_153380.3:c.2287A>G, NM_153380.3:c.2287A>C, NM_153380.2:c.2287A>G, NM_153380.2:c.2287A>C, NM_001324150.2:c.2287A>G, NM_001324150.2:c.2287A>C, NM_001324150.1:c.2287A>G, NM_001324150.1:c.2287A>C, NM_001324152.2:c.2029A>G, NM_001324152.2:c.2029A>C, NM_001324152.1:c.2029A>G, NM_001324152.1:c.2029A>C, NM_001324151.2:c.2317A>G, NM_001324151.2:c.2317A>C, NM_001324151.1:c.2317A>G, NM_001324151.1:c.2317A>C, NM_001324148.2:c.2293A>G, NM_001324148.2:c.2293A>C, NM_001324148.1:c.2293A>G, NM_001324148.1:c.2293A>C, NM_001324144.2:c.2287A>G, NM_001324144.2:c.2287A>C, NM_001324144.1:c.2287A>G, NM_001324144.1:c.2287A>C, NM_001324147.2:c.2287A>G, NM_001324147.2:c.2287A>C, NM_001324147.1:c.2287A>G, NM_001324147.1:c.2287A>C, NM_001324153.2:c.2317A>G, NM_001324153.2:c.2317A>C, NM_001324153.1:c.2317A>G, NM_001324153.1:c.2317A>C, NM_001324142.2:c.2293A>G, NM_001324142.2:c.2293A>C, NM_001324142.1:c.2293A>G, NM_001324142.1:c.2293A>C, NM_001324140.2:c.2287A>G, NM_001324140.2:c.2287A>C, NM_001324140.1:c.2287A>G, NM_001324140.1:c.2287A>C, NM_001324149.2:c.2029A>G, NM_001324149.2:c.2029A>C, NM_001324149.1:c.2029A>G, NM_001324149.1:c.2029A>C, NM_001324143.2:c.2029A>G, NM_001324143.2:c.2029A>C, NM_001324143.1:c.2029A>G, NM_001324143.1:c.2029A>C, NM_001324145.2:c.2029A>G, NM_001324145.2:c.2029A>C, NM_001324145.1:c.2029A>G, NM_001324145.1:c.2029A>C, NM_001324141.2:c.2029A>G, NM_001324141.2:c.2029A>C, NM_001324141.1:c.2029A>G, NM_001324141.1:c.2029A>C, NM_001324139.2:c.2029A>G, NM_001324139.2:c.2029A>C, NM_001324139.1:c.2029A>G, NM_001324139.1:c.2029A>C, NM_001324155.1:c.2413A>G, NM_001324155.1:c.2413A>C, NM_001324154.1:c.2389A>G, NM_001324154.1:c.2389A>C, NM_001324156.1:c.2185A>G, NM_001324156.1:c.2185A>C, NM_001324157.1:c.2179A>G, NM_001324157.1:c.2179A>C, XM_006724550.4:c.2389A>G, XM_006724550.4:c.2389A>C, XM_006724550.3:c.2389A>G, XM_006724550.3:c.2389A>C, XM_006724550.2:c.2389A>G, XM_006724550.2:c.2389A>C, XM_006724550.1:c.2389A>G, XM_006724550.1:c.2389A>C, XM_006724555.4:c.2317A>G, XM_006724555.4:c.2317A>C, XM_006724555.3:c.2317A>G, XM_006724555.3:c.2317A>C, XM_006724555.2:c.2317A>G, XM_006724555.2:c.2317A>C, XM_006724555.1:c.2317A>G, XM_006724555.1:c.2317A>C, XM_017029811.3:c.2389A>G, XM_017029811.3:c.2389A>C, XM_017029811.2:c.2389A>G, XM_017029811.2:c.2389A>C, XM_017029811.1:c.2389A>G, XM_017029811.1:c.2389A>C, XM_017029810.3:c.2389A>G, XM_017029810.3:c.2389A>C, XM_017029810.2:c.2389A>G, XM_017029810.2:c.2389A>C, XM_017029810.1:c.2389A>G, XM_017029810.1:c.2389A>C, XM_017029814.3:c.2389A>G, XM_017029814.3:c.2389A>C, XM_017029814.2:c.2389A>G, XM_017029814.2:c.2389A>C, XM_017029814.1:c.2389A>G, XM_017029814.1:c.2389A>C, XM_017029812.2:c.2389A>G, XM_017029812.2:c.2389A>C, XM_017029812.1:c.2389A>G, XM_017029812.1:c.2389A>C, XM_017029813.2:c.2389A>G, XM_017029813.2:c.2389A>C, XM_017029813.1:c.2389A>G, XM_017029813.1:c.2389A>C, XM_017029815.2:c.2389A>G, XM_017029815.2:c.2389A>C, XM_017029815.1:c.2389A>G, XM_017029815.1:c.2389A>C, XM_017029816.2:c.2317A>G, XM_017029816.2:c.2317A>C, XM_017029816.1:c.2317A>G, XM_017029816.1:c.2317A>C, XM_017029817.2:c.2287A>G, XM_017029817.2:c.2287A>C, XM_017029817.1:c.2287A>G, XM_017029817.1:c.2287A>C, XM_047442475.1:c.2293A>G, XM_047442475.1:c.2293A>C, XM_047442472.1:c.2317A>G, XM_047442472.1:c.2317A>C, XM_047442474.1:c.2317A>G, XM_047442474.1:c.2317A>C, XM_047442476.1:c.2293A>G, XM_047442476.1:c.2293A>C, XM_047442479.1:c.2293A>G, XM_047442479.1:c.2293A>C, XM_047442471.1:c.2389A>G, XM_047442471.1:c.2389A>C, XM_047442473.1:c.2317A>G, XM_047442473.1:c.2317A>C, XM_047442477.1:c.2293A>G, XM_047442477.1:c.2293A>C, XM_047442481.1:c.2287A>G, XM_047442481.1:c.2287A>C, XM_047442478.1:c.2293A>G, XM_047442478.1:c.2293A>C, XM_047442480.1:c.2293A>G, XM_047442480.1:c.2293A>C, XM_047442482.1:c.2287A>G, XM_047442482.1:c.2287A>C, XM_047442483.1:c.2029A>G, XM_047442483.1:c.2029A>C, XM_047442484.1:c.2029A>G, XM_047442484.1:c.2029A>C, NP_009061.1:p.Ile763Val, NP_009061.1:p.Ile763Leu, NP_700359.1:p.Ile763Val, NP_700359.1:p.Ile763Leu, NP_001311079.1:p.Ile763Val, NP_001311079.1:p.Ile763Leu, NP_001311081.1:p.Ile677Val, NP_001311081.1:p.Ile677Leu, NP_001311080.1:p.Ile773Val, NP_001311080.1:p.Ile773Leu, NP_001311077.1:p.Ile765Val, NP_001311077.1:p.Ile765Leu, NP_001311073.1:p.Ile763Val, NP_001311073.1:p.Ile763Leu, NP_001311076.1:p.Ile763Val, NP_001311076.1:p.Ile763Leu, NP_001311082.1:p.Ile773Val, NP_001311082.1:p.Ile773Leu, NP_001311071.1:p.Ile765Val, NP_001311071.1:p.Ile765Leu, NP_001311069.1:p.Ile763Val, NP_001311069.1:p.Ile763Leu, NP_001311078.1:p.Ile677Val, NP_001311078.1:p.Ile677Leu, NP_001311072.1:p.Ile677Val, NP_001311072.1:p.Ile677Leu, NP_001311074.1:p.Ile677Val, NP_001311074.1:p.Ile677Leu, NP_001311070.1:p.Ile677Val, NP_001311070.1:p.Ile677Leu, NP_001311068.1:p.Ile677Val, NP_001311068.1:p.Ile677Leu, NP_001311084.1:p.Ile805Val, NP_001311084.1:p.Ile805Leu, NP_001311083.1:p.Ile797Val, NP_001311083.1:p.Ile797Leu, NP_001311085.1:p.Ile729Val, NP_001311085.1:p.Ile729Leu, NP_001311086.1:p.Ile727Val, NP_001311086.1:p.Ile727Leu, XP_006724613.1:p.Ile797Val, XP_006724613.1:p.Ile797Leu, XP_006724618.1:p.Ile773Val, XP_006724618.1:p.Ile773Leu, XP_016885300.1:p.Ile797Val, XP_016885300.1:p.Ile797Leu, XP_016885299.1:p.Ile797Val, XP_016885299.1:p.Ile797Leu, XP_016885303.1:p.Ile797Val, XP_016885303.1:p.Ile797Leu, XP_016885301.1:p.Ile797Val, XP_016885301.1:p.Ile797Leu, XP_016885302.1:p.Ile797Val, XP_016885302.1:p.Ile797Leu, XP_016885304.1:p.Ile797Val, XP_016885304.1:p.Ile797Leu, XP_016885305.1:p.Ile773Val, XP_016885305.1:p.Ile773Leu, XP_016885306.1:p.Ile763Val, XP_016885306.1:p.Ile763Leu, XP_047298431.1:p.Ile765Val, XP_047298431.1:p.Ile765Leu, XP_047298428.1:p.Ile773Val, XP_047298428.1:p.Ile773Leu, XP_047298430.1:p.Ile773Val, XP_047298430.1:p.Ile773Leu, XP_047298432.1:p.Ile765Val, XP_047298432.1:p.Ile765Leu, XP_047298435.1:p.Ile765Val, XP_047298435.1:p.Ile765Leu, XP_047298427.1:p.Ile797Val, XP_047298427.1:p.Ile797Leu, XP_047298429.1:p.Ile773Val, XP_047298429.1:p.Ile773Leu, XP_047298433.1:p.Ile765Val, XP_047298433.1:p.Ile765Leu, XP_047298437.1:p.Ile763Val, XP_047298437.1:p.Ile763Leu, XP_047298434.1:p.Ile765Val, XP_047298434.1:p.Ile765Leu, XP_047298436.1:p.Ile765Val, XP_047298436.1:p.Ile765Leu, XP_047298438.1:p.Ile763Val, XP_047298438.1:p.Ile763Leu, XP_047298439.1:p.Ile677Val, XP_047298439.1:p.Ile677Leu, XP_047298440.1:p.Ile677Val, XP_047298440.1:p.Ile677Leu

    2.

    rs1489729340 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      X:47447564 (GRCh38)
      X:47306963 (GRCh37)
      Canonical SPDI:
      NC_000023.11:47447563:T:A
      Gene:
      ZNF41 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      HGVS:
      NC_000023.11:g.47447564T>A, NC_000023.10:g.47306963T>A, NG_008238.1:g.40383A>T, NM_007130.4:c.2206A>T, NM_007130.3:c.2206A>T, NM_007130.2:c.2206A>T, NM_153380.3:c.2206A>T, NM_153380.2:c.2206A>T, NM_001324150.2:c.2206A>T, NM_001324150.1:c.2206A>T, NM_001324152.2:c.1948A>T, NM_001324152.1:c.1948A>T, NM_001324151.2:c.2236A>T, NM_001324151.1:c.2236A>T, NM_001324148.2:c.2212A>T, NM_001324148.1:c.2212A>T, NM_001324144.2:c.2206A>T, NM_001324144.1:c.2206A>T, NM_001324147.2:c.2206A>T, NM_001324147.1:c.2206A>T, NM_001324153.2:c.2236A>T, NM_001324153.1:c.2236A>T, NM_001324142.2:c.2212A>T, NM_001324142.1:c.2212A>T, NM_001324140.2:c.2206A>T, NM_001324140.1:c.2206A>T, NM_001324149.2:c.1948A>T, NM_001324149.1:c.1948A>T, NM_001324143.2:c.1948A>T, NM_001324143.1:c.1948A>T, NM_001324145.2:c.1948A>T, NM_001324145.1:c.1948A>T, NM_001324141.2:c.1948A>T, NM_001324141.1:c.1948A>T, NM_001324139.2:c.1948A>T, NM_001324139.1:c.1948A>T, NM_001324155.1:c.2332A>T, NM_001324154.1:c.2308A>T, NM_001324156.1:c.2104A>T, NM_001324157.1:c.2098A>T, XM_006724550.4:c.2308A>T, XM_006724550.3:c.2308A>T, XM_006724550.2:c.2308A>T, XM_006724550.1:c.2308A>T, XM_006724555.4:c.2236A>T, XM_006724555.3:c.2236A>T, XM_006724555.2:c.2236A>T, XM_006724555.1:c.2236A>T, XM_017029811.3:c.2308A>T, XM_017029811.2:c.2308A>T, XM_017029811.1:c.2308A>T, XM_017029810.3:c.2308A>T, XM_017029810.2:c.2308A>T, XM_017029810.1:c.2308A>T, XM_017029814.3:c.2308A>T, XM_017029814.2:c.2308A>T, XM_017029814.1:c.2308A>T, XM_017029812.2:c.2308A>T, XM_017029812.1:c.2308A>T, XM_017029813.2:c.2308A>T, XM_017029813.1:c.2308A>T, XM_017029815.2:c.2308A>T, XM_017029815.1:c.2308A>T, XM_017029816.2:c.2236A>T, XM_017029816.1:c.2236A>T, XM_017029817.2:c.2206A>T, XM_017029817.1:c.2206A>T, XM_047442475.1:c.2212A>T, XM_047442472.1:c.2236A>T, XM_047442474.1:c.2236A>T, XM_047442476.1:c.2212A>T, XM_047442479.1:c.2212A>T, XM_047442471.1:c.2308A>T, XM_047442473.1:c.2236A>T, XM_047442477.1:c.2212A>T, XM_047442481.1:c.2206A>T, XM_047442478.1:c.2212A>T, XM_047442480.1:c.2212A>T, XM_047442482.1:c.2206A>T, XM_047442483.1:c.1948A>T, XM_047442484.1:c.1948A>T, NP_009061.1:p.Met736Leu, NP_700359.1:p.Met736Leu, NP_001311079.1:p.Met736Leu, NP_001311081.1:p.Met650Leu, NP_001311080.1:p.Met746Leu, NP_001311077.1:p.Met738Leu, NP_001311073.1:p.Met736Leu, NP_001311076.1:p.Met736Leu, NP_001311082.1:p.Met746Leu, NP_001311071.1:p.Met738Leu, NP_001311069.1:p.Met736Leu, NP_001311078.1:p.Met650Leu, NP_001311072.1:p.Met650Leu, NP_001311074.1:p.Met650Leu, NP_001311070.1:p.Met650Leu, NP_001311068.1:p.Met650Leu, NP_001311084.1:p.Met778Leu, NP_001311083.1:p.Met770Leu, NP_001311085.1:p.Met702Leu, NP_001311086.1:p.Met700Leu, XP_006724613.1:p.Met770Leu, XP_006724618.1:p.Met746Leu, XP_016885300.1:p.Met770Leu, XP_016885299.1:p.Met770Leu, XP_016885303.1:p.Met770Leu, XP_016885301.1:p.Met770Leu, XP_016885302.1:p.Met770Leu, XP_016885304.1:p.Met770Leu, XP_016885305.1:p.Met746Leu, XP_016885306.1:p.Met736Leu, XP_047298431.1:p.Met738Leu, XP_047298428.1:p.Met746Leu, XP_047298430.1:p.Met746Leu, XP_047298432.1:p.Met738Leu, XP_047298435.1:p.Met738Leu, XP_047298427.1:p.Met770Leu, XP_047298429.1:p.Met746Leu, XP_047298433.1:p.Met738Leu, XP_047298437.1:p.Met736Leu, XP_047298434.1:p.Met738Leu, XP_047298436.1:p.Met738Leu, XP_047298438.1:p.Met736Leu, XP_047298439.1:p.Met650Leu, XP_047298440.1:p.Met650Leu

      3.

      rs1486567099 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:47448757 (GRCh38)
        X:47308156 (GRCh37)
        Canonical SPDI:
        NC_000023.11:47448756:A:G
        Gene:
        ZNF41 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000023.11:g.47448757A>G, NC_000023.10:g.47308156A>G, NG_008238.1:g.39190T>C, NM_007130.4:c.1013T>C, NM_007130.3:c.1013T>C, NM_007130.2:c.1013T>C, NM_153380.3:c.1013T>C, NM_153380.2:c.1013T>C, NM_001324150.2:c.1013T>C, NM_001324150.1:c.1013T>C, NM_001324152.2:c.755T>C, NM_001324152.1:c.755T>C, NM_001324151.2:c.1043T>C, NM_001324151.1:c.1043T>C, NM_001324148.2:c.1019T>C, NM_001324148.1:c.1019T>C, NM_001324144.2:c.1013T>C, NM_001324144.1:c.1013T>C, NM_001324147.2:c.1013T>C, NM_001324147.1:c.1013T>C, NM_001324153.2:c.1043T>C, NM_001324153.1:c.1043T>C, NM_001324142.2:c.1019T>C, NM_001324142.1:c.1019T>C, NM_001324140.2:c.1013T>C, NM_001324140.1:c.1013T>C, NM_001324149.2:c.755T>C, NM_001324149.1:c.755T>C, NM_001324143.2:c.755T>C, NM_001324143.1:c.755T>C, NM_001324145.2:c.755T>C, NM_001324145.1:c.755T>C, NM_001324141.2:c.755T>C, NM_001324141.1:c.755T>C, NM_001324139.2:c.755T>C, NM_001324139.1:c.755T>C, NM_001324155.1:c.1139T>C, NM_001324154.1:c.1115T>C, NM_001324156.1:c.911T>C, NM_001324157.1:c.905T>C, XM_006724550.4:c.1115T>C, XM_006724550.3:c.1115T>C, XM_006724550.2:c.1115T>C, XM_006724550.1:c.1115T>C, XM_006724555.4:c.1043T>C, XM_006724555.3:c.1043T>C, XM_006724555.2:c.1043T>C, XM_006724555.1:c.1043T>C, XM_017029811.3:c.1115T>C, XM_017029811.2:c.1115T>C, XM_017029811.1:c.1115T>C, XM_017029810.3:c.1115T>C, XM_017029810.2:c.1115T>C, XM_017029810.1:c.1115T>C, XM_017029814.3:c.1115T>C, XM_017029814.2:c.1115T>C, XM_017029814.1:c.1115T>C, XM_017029812.2:c.1115T>C, XM_017029812.1:c.1115T>C, XM_017029813.2:c.1115T>C, XM_017029813.1:c.1115T>C, XM_017029815.2:c.1115T>C, XM_017029815.1:c.1115T>C, XM_017029816.2:c.1043T>C, XM_017029816.1:c.1043T>C, XM_017029817.2:c.1013T>C, XM_017029817.1:c.1013T>C, XM_047442475.1:c.1019T>C, XM_047442472.1:c.1043T>C, XM_047442474.1:c.1043T>C, XM_047442476.1:c.1019T>C, XM_047442479.1:c.1019T>C, XM_047442471.1:c.1115T>C, XM_047442473.1:c.1043T>C, XM_047442477.1:c.1019T>C, XM_047442481.1:c.1013T>C, XM_047442478.1:c.1019T>C, XM_047442480.1:c.1019T>C, XM_047442482.1:c.1013T>C, XM_047442483.1:c.755T>C, XM_047442484.1:c.755T>C, NP_009061.1:p.Leu338Pro, NP_700359.1:p.Leu338Pro, NP_001311079.1:p.Leu338Pro, NP_001311081.1:p.Leu252Pro, NP_001311080.1:p.Leu348Pro, NP_001311077.1:p.Leu340Pro, NP_001311073.1:p.Leu338Pro, NP_001311076.1:p.Leu338Pro, NP_001311082.1:p.Leu348Pro, NP_001311071.1:p.Leu340Pro, NP_001311069.1:p.Leu338Pro, NP_001311078.1:p.Leu252Pro, NP_001311072.1:p.Leu252Pro, NP_001311074.1:p.Leu252Pro, NP_001311070.1:p.Leu252Pro, NP_001311068.1:p.Leu252Pro, NP_001311084.1:p.Leu380Pro, NP_001311083.1:p.Leu372Pro, NP_001311085.1:p.Leu304Pro, NP_001311086.1:p.Leu302Pro, XP_006724613.1:p.Leu372Pro, XP_006724618.1:p.Leu348Pro, XP_016885300.1:p.Leu372Pro, XP_016885299.1:p.Leu372Pro, XP_016885303.1:p.Leu372Pro, XP_016885301.1:p.Leu372Pro, XP_016885302.1:p.Leu372Pro, XP_016885304.1:p.Leu372Pro, XP_016885305.1:p.Leu348Pro, XP_016885306.1:p.Leu338Pro, XP_047298431.1:p.Leu340Pro, XP_047298428.1:p.Leu348Pro, XP_047298430.1:p.Leu348Pro, XP_047298432.1:p.Leu340Pro, XP_047298435.1:p.Leu340Pro, XP_047298427.1:p.Leu372Pro, XP_047298429.1:p.Leu348Pro, XP_047298433.1:p.Leu340Pro, XP_047298437.1:p.Leu338Pro, XP_047298434.1:p.Leu340Pro, XP_047298436.1:p.Leu340Pro, XP_047298438.1:p.Leu338Pro, XP_047298439.1:p.Leu252Pro, XP_047298440.1:p.Leu252Pro

        4.

        rs1485605687 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          X:47447975 (GRCh38)
          X:47307374 (GRCh37)
          Canonical SPDI:
          NC_000023.11:47447974:T:G
          Gene:
          ZNF41 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          G=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.47447975T>G, NC_000023.10:g.47307374T>G, NG_008238.1:g.39972A>C, NM_007130.4:c.1795A>C, NM_007130.3:c.1795A>C, NM_007130.2:c.1795A>C, NM_153380.3:c.1795A>C, NM_153380.2:c.1795A>C, NM_001324150.2:c.1795A>C, NM_001324150.1:c.1795A>C, NM_001324152.2:c.1537A>C, NM_001324152.1:c.1537A>C, NM_001324151.2:c.1825A>C, NM_001324151.1:c.1825A>C, NM_001324148.2:c.1801A>C, NM_001324148.1:c.1801A>C, NM_001324144.2:c.1795A>C, NM_001324144.1:c.1795A>C, NM_001324147.2:c.1795A>C, NM_001324147.1:c.1795A>C, NM_001324153.2:c.1825A>C, NM_001324153.1:c.1825A>C, NM_001324142.2:c.1801A>C, NM_001324142.1:c.1801A>C, NM_001324140.2:c.1795A>C, NM_001324140.1:c.1795A>C, NM_001324149.2:c.1537A>C, NM_001324149.1:c.1537A>C, NM_001324143.2:c.1537A>C, NM_001324143.1:c.1537A>C, NM_001324145.2:c.1537A>C, NM_001324145.1:c.1537A>C, NM_001324141.2:c.1537A>C, NM_001324141.1:c.1537A>C, NM_001324139.2:c.1537A>C, NM_001324139.1:c.1537A>C, NM_001324155.1:c.1921A>C, NM_001324154.1:c.1897A>C, NM_001324156.1:c.1693A>C, NM_001324157.1:c.1687A>C, XM_006724550.4:c.1897A>C, XM_006724550.3:c.1897A>C, XM_006724550.2:c.1897A>C, XM_006724550.1:c.1897A>C, XM_006724555.4:c.1825A>C, XM_006724555.3:c.1825A>C, XM_006724555.2:c.1825A>C, XM_006724555.1:c.1825A>C, XM_017029811.3:c.1897A>C, XM_017029811.2:c.1897A>C, XM_017029811.1:c.1897A>C, XM_017029810.3:c.1897A>C, XM_017029810.2:c.1897A>C, XM_017029810.1:c.1897A>C, XM_017029814.3:c.1897A>C, XM_017029814.2:c.1897A>C, XM_017029814.1:c.1897A>C, XM_017029812.2:c.1897A>C, XM_017029812.1:c.1897A>C, XM_017029813.2:c.1897A>C, XM_017029813.1:c.1897A>C, XM_017029815.2:c.1897A>C, XM_017029815.1:c.1897A>C, XM_017029816.2:c.1825A>C, XM_017029816.1:c.1825A>C, XM_017029817.2:c.1795A>C, XM_017029817.1:c.1795A>C, XM_047442475.1:c.1801A>C, XM_047442472.1:c.1825A>C, XM_047442474.1:c.1825A>C, XM_047442476.1:c.1801A>C, XM_047442479.1:c.1801A>C, XM_047442471.1:c.1897A>C, XM_047442473.1:c.1825A>C, XM_047442477.1:c.1801A>C, XM_047442481.1:c.1795A>C, XM_047442478.1:c.1801A>C, XM_047442480.1:c.1801A>C, XM_047442482.1:c.1795A>C, XM_047442483.1:c.1537A>C, XM_047442484.1:c.1537A>C

          5.

          rs1481218038 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:47447633 (GRCh38)
            X:47307032 (GRCh37)
            Canonical SPDI:
            NC_000023.11:47447632:G:A
            Gene:
            ZNF41 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000023.11:g.47447633G>A, NC_000023.10:g.47307032G>A, NG_008238.1:g.40314C>T, NM_007130.4:c.2137C>T, NM_007130.3:c.2137C>T, NM_007130.2:c.2137C>T, NM_153380.3:c.2137C>T, NM_153380.2:c.2137C>T, NM_001324150.2:c.2137C>T, NM_001324150.1:c.2137C>T, NM_001324152.2:c.1879C>T, NM_001324152.1:c.1879C>T, NM_001324151.2:c.2167C>T, NM_001324151.1:c.2167C>T, NM_001324148.2:c.2143C>T, NM_001324148.1:c.2143C>T, NM_001324144.2:c.2137C>T, NM_001324144.1:c.2137C>T, NM_001324147.2:c.2137C>T, NM_001324147.1:c.2137C>T, NM_001324153.2:c.2167C>T, NM_001324153.1:c.2167C>T, NM_001324142.2:c.2143C>T, NM_001324142.1:c.2143C>T, NM_001324140.2:c.2137C>T, NM_001324140.1:c.2137C>T, NM_001324149.2:c.1879C>T, NM_001324149.1:c.1879C>T, NM_001324143.2:c.1879C>T, NM_001324143.1:c.1879C>T, NM_001324145.2:c.1879C>T, NM_001324145.1:c.1879C>T, NM_001324141.2:c.1879C>T, NM_001324141.1:c.1879C>T, NM_001324139.2:c.1879C>T, NM_001324139.1:c.1879C>T, NM_001324155.1:c.2263C>T, NM_001324154.1:c.2239C>T, NM_001324156.1:c.2035C>T, NM_001324157.1:c.2029C>T, XM_006724550.4:c.2239C>T, XM_006724550.3:c.2239C>T, XM_006724550.2:c.2239C>T, XM_006724550.1:c.2239C>T, XM_006724555.4:c.2167C>T, XM_006724555.3:c.2167C>T, XM_006724555.2:c.2167C>T, XM_006724555.1:c.2167C>T, XM_017029811.3:c.2239C>T, XM_017029811.2:c.2239C>T, XM_017029811.1:c.2239C>T, XM_017029810.3:c.2239C>T, XM_017029810.2:c.2239C>T, XM_017029810.1:c.2239C>T, XM_017029814.3:c.2239C>T, XM_017029814.2:c.2239C>T, XM_017029814.1:c.2239C>T, XM_017029812.2:c.2239C>T, XM_017029812.1:c.2239C>T, XM_017029813.2:c.2239C>T, XM_017029813.1:c.2239C>T, XM_017029815.2:c.2239C>T, XM_017029815.1:c.2239C>T, XM_017029816.2:c.2167C>T, XM_017029816.1:c.2167C>T, XM_017029817.2:c.2137C>T, XM_017029817.1:c.2137C>T, XM_047442475.1:c.2143C>T, XM_047442472.1:c.2167C>T, XM_047442474.1:c.2167C>T, XM_047442476.1:c.2143C>T, XM_047442479.1:c.2143C>T, XM_047442471.1:c.2239C>T, XM_047442473.1:c.2167C>T, XM_047442477.1:c.2143C>T, XM_047442481.1:c.2137C>T, XM_047442478.1:c.2143C>T, XM_047442480.1:c.2143C>T, XM_047442482.1:c.2137C>T, XM_047442483.1:c.1879C>T, XM_047442484.1:c.1879C>T, NP_009061.1:p.His713Tyr, NP_700359.1:p.His713Tyr, NP_001311079.1:p.His713Tyr, NP_001311081.1:p.His627Tyr, NP_001311080.1:p.His723Tyr, NP_001311077.1:p.His715Tyr, NP_001311073.1:p.His713Tyr, NP_001311076.1:p.His713Tyr, NP_001311082.1:p.His723Tyr, NP_001311071.1:p.His715Tyr, NP_001311069.1:p.His713Tyr, NP_001311078.1:p.His627Tyr, NP_001311072.1:p.His627Tyr, NP_001311074.1:p.His627Tyr, NP_001311070.1:p.His627Tyr, NP_001311068.1:p.His627Tyr, NP_001311084.1:p.His755Tyr, NP_001311083.1:p.His747Tyr, NP_001311085.1:p.His679Tyr, NP_001311086.1:p.His677Tyr, XP_006724613.1:p.His747Tyr, XP_006724618.1:p.His723Tyr, XP_016885300.1:p.His747Tyr, XP_016885299.1:p.His747Tyr, XP_016885303.1:p.His747Tyr, XP_016885301.1:p.His747Tyr, XP_016885302.1:p.His747Tyr, XP_016885304.1:p.His747Tyr, XP_016885305.1:p.His723Tyr, XP_016885306.1:p.His713Tyr, XP_047298431.1:p.His715Tyr, XP_047298428.1:p.His723Tyr, XP_047298430.1:p.His723Tyr, XP_047298432.1:p.His715Tyr, XP_047298435.1:p.His715Tyr, XP_047298427.1:p.His747Tyr, XP_047298429.1:p.His723Tyr, XP_047298433.1:p.His715Tyr, XP_047298437.1:p.His713Tyr, XP_047298434.1:p.His715Tyr, XP_047298436.1:p.His715Tyr, XP_047298438.1:p.His713Tyr, XP_047298439.1:p.His627Tyr, XP_047298440.1:p.His627Tyr

            6.

            rs1478052830 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:47448425 (GRCh38)
              X:47307824 (GRCh37)
              Canonical SPDI:
              NC_000023.11:47448424:T:C
              Gene:
              ZNF41 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000023.11:g.47448425T>C, NC_000023.10:g.47307824T>C, NG_008238.1:g.39522A>G, NM_007130.4:c.1345A>G, NM_007130.3:c.1345A>G, NM_007130.2:c.1345A>G, NM_153380.3:c.1345A>G, NM_153380.2:c.1345A>G, NM_001324150.2:c.1345A>G, NM_001324150.1:c.1345A>G, NM_001324152.2:c.1087A>G, NM_001324152.1:c.1087A>G, NM_001324151.2:c.1375A>G, NM_001324151.1:c.1375A>G, NM_001324148.2:c.1351A>G, NM_001324148.1:c.1351A>G, NM_001324144.2:c.1345A>G, NM_001324144.1:c.1345A>G, NM_001324147.2:c.1345A>G, NM_001324147.1:c.1345A>G, NM_001324153.2:c.1375A>G, NM_001324153.1:c.1375A>G, NM_001324142.2:c.1351A>G, NM_001324142.1:c.1351A>G, NM_001324140.2:c.1345A>G, NM_001324140.1:c.1345A>G, NM_001324149.2:c.1087A>G, NM_001324149.1:c.1087A>G, NM_001324143.2:c.1087A>G, NM_001324143.1:c.1087A>G, NM_001324145.2:c.1087A>G, NM_001324145.1:c.1087A>G, NM_001324141.2:c.1087A>G, NM_001324141.1:c.1087A>G, NM_001324139.2:c.1087A>G, NM_001324139.1:c.1087A>G, NM_001324155.1:c.1471A>G, NM_001324154.1:c.1447A>G, NM_001324156.1:c.1243A>G, NM_001324157.1:c.1237A>G, XM_006724550.4:c.1447A>G, XM_006724550.3:c.1447A>G, XM_006724550.2:c.1447A>G, XM_006724550.1:c.1447A>G, XM_006724555.4:c.1375A>G, XM_006724555.3:c.1375A>G, XM_006724555.2:c.1375A>G, XM_006724555.1:c.1375A>G, XM_017029811.3:c.1447A>G, XM_017029811.2:c.1447A>G, XM_017029811.1:c.1447A>G, XM_017029810.3:c.1447A>G, XM_017029810.2:c.1447A>G, XM_017029810.1:c.1447A>G, XM_017029814.3:c.1447A>G, XM_017029814.2:c.1447A>G, XM_017029814.1:c.1447A>G, XM_017029812.2:c.1447A>G, XM_017029812.1:c.1447A>G, XM_017029813.2:c.1447A>G, XM_017029813.1:c.1447A>G, XM_017029815.2:c.1447A>G, XM_017029815.1:c.1447A>G, XM_017029816.2:c.1375A>G, XM_017029816.1:c.1375A>G, XM_017029817.2:c.1345A>G, XM_017029817.1:c.1345A>G, XM_047442475.1:c.1351A>G, XM_047442472.1:c.1375A>G, XM_047442474.1:c.1375A>G, XM_047442476.1:c.1351A>G, XM_047442479.1:c.1351A>G, XM_047442471.1:c.1447A>G, XM_047442473.1:c.1375A>G, XM_047442477.1:c.1351A>G, XM_047442481.1:c.1345A>G, XM_047442478.1:c.1351A>G, XM_047442480.1:c.1351A>G, XM_047442482.1:c.1345A>G, XM_047442483.1:c.1087A>G, XM_047442484.1:c.1087A>G, NP_009061.1:p.Ile449Val, NP_700359.1:p.Ile449Val, NP_001311079.1:p.Ile449Val, NP_001311081.1:p.Ile363Val, NP_001311080.1:p.Ile459Val, NP_001311077.1:p.Ile451Val, NP_001311073.1:p.Ile449Val, NP_001311076.1:p.Ile449Val, NP_001311082.1:p.Ile459Val, NP_001311071.1:p.Ile451Val, NP_001311069.1:p.Ile449Val, NP_001311078.1:p.Ile363Val, NP_001311072.1:p.Ile363Val, NP_001311074.1:p.Ile363Val, NP_001311070.1:p.Ile363Val, NP_001311068.1:p.Ile363Val, NP_001311084.1:p.Ile491Val, NP_001311083.1:p.Ile483Val, NP_001311085.1:p.Ile415Val, NP_001311086.1:p.Ile413Val, XP_006724613.1:p.Ile483Val, XP_006724618.1:p.Ile459Val, XP_016885300.1:p.Ile483Val, XP_016885299.1:p.Ile483Val, XP_016885303.1:p.Ile483Val, XP_016885301.1:p.Ile483Val, XP_016885302.1:p.Ile483Val, XP_016885304.1:p.Ile483Val, XP_016885305.1:p.Ile459Val, XP_016885306.1:p.Ile449Val, XP_047298431.1:p.Ile451Val, XP_047298428.1:p.Ile459Val, XP_047298430.1:p.Ile459Val, XP_047298432.1:p.Ile451Val, XP_047298435.1:p.Ile451Val, XP_047298427.1:p.Ile483Val, XP_047298429.1:p.Ile459Val, XP_047298433.1:p.Ile451Val, XP_047298437.1:p.Ile449Val, XP_047298434.1:p.Ile451Val, XP_047298436.1:p.Ile451Val, XP_047298438.1:p.Ile449Val, XP_047298439.1:p.Ile363Val, XP_047298440.1:p.Ile363Val

              7.

              rs1476783615 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:47447844 (GRCh38)
                X:47307243 (GRCh37)
                Canonical SPDI:
                NC_000023.11:47447843:T:C
                Gene:
                ZNF41 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000023.11:g.47447844T>C, NC_000023.10:g.47307243T>C, NG_008238.1:g.40103A>G, NM_007130.4:c.1926A>G, NM_007130.3:c.1926A>G, NM_007130.2:c.1926A>G, NM_153380.3:c.1926A>G, NM_153380.2:c.1926A>G, NM_001324150.2:c.1926A>G, NM_001324150.1:c.1926A>G, NM_001324152.2:c.1668A>G, NM_001324152.1:c.1668A>G, NM_001324151.2:c.1956A>G, NM_001324151.1:c.1956A>G, NM_001324148.2:c.1932A>G, NM_001324148.1:c.1932A>G, NM_001324144.2:c.1926A>G, NM_001324144.1:c.1926A>G, NM_001324147.2:c.1926A>G, NM_001324147.1:c.1926A>G, NM_001324153.2:c.1956A>G, NM_001324153.1:c.1956A>G, NM_001324142.2:c.1932A>G, NM_001324142.1:c.1932A>G, NM_001324140.2:c.1926A>G, NM_001324140.1:c.1926A>G, NM_001324149.2:c.1668A>G, NM_001324149.1:c.1668A>G, NM_001324143.2:c.1668A>G, NM_001324143.1:c.1668A>G, NM_001324145.2:c.1668A>G, NM_001324145.1:c.1668A>G, NM_001324141.2:c.1668A>G, NM_001324141.1:c.1668A>G, NM_001324139.2:c.1668A>G, NM_001324139.1:c.1668A>G, NM_001324155.1:c.2052A>G, NM_001324154.1:c.2028A>G, NM_001324156.1:c.1824A>G, NM_001324157.1:c.1818A>G, XM_006724550.4:c.2028A>G, XM_006724550.3:c.2028A>G, XM_006724550.2:c.2028A>G, XM_006724550.1:c.2028A>G, XM_006724555.4:c.1956A>G, XM_006724555.3:c.1956A>G, XM_006724555.2:c.1956A>G, XM_006724555.1:c.1956A>G, XM_017029811.3:c.2028A>G, XM_017029811.2:c.2028A>G, XM_017029811.1:c.2028A>G, XM_017029810.3:c.2028A>G, XM_017029810.2:c.2028A>G, XM_017029810.1:c.2028A>G, XM_017029814.3:c.2028A>G, XM_017029814.2:c.2028A>G, XM_017029814.1:c.2028A>G, XM_017029812.2:c.2028A>G, XM_017029812.1:c.2028A>G, XM_017029813.2:c.2028A>G, XM_017029813.1:c.2028A>G, XM_017029815.2:c.2028A>G, XM_017029815.1:c.2028A>G, XM_017029816.2:c.1956A>G, XM_017029816.1:c.1956A>G, XM_017029817.2:c.1926A>G, XM_017029817.1:c.1926A>G, XM_047442475.1:c.1932A>G, XM_047442472.1:c.1956A>G, XM_047442474.1:c.1956A>G, XM_047442476.1:c.1932A>G, XM_047442479.1:c.1932A>G, XM_047442471.1:c.2028A>G, XM_047442473.1:c.1956A>G, XM_047442477.1:c.1932A>G, XM_047442481.1:c.1926A>G, XM_047442478.1:c.1932A>G, XM_047442480.1:c.1932A>G, XM_047442482.1:c.1926A>G, XM_047442483.1:c.1668A>G, XM_047442484.1:c.1668A>G

                8.

                rs1475110639 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:47447901 (GRCh38)
                  X:47307300 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:47447900:A:G
                  Gene:
                  ZNF41 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000023.11:g.47447901A>G, NC_000023.10:g.47307300A>G, NG_008238.1:g.40046T>C, NM_007130.4:c.1869T>C, NM_007130.3:c.1869T>C, NM_007130.2:c.1869T>C, NM_153380.3:c.1869T>C, NM_153380.2:c.1869T>C, NM_001324150.2:c.1869T>C, NM_001324150.1:c.1869T>C, NM_001324152.2:c.1611T>C, NM_001324152.1:c.1611T>C, NM_001324151.2:c.1899T>C, NM_001324151.1:c.1899T>C, NM_001324148.2:c.1875T>C, NM_001324148.1:c.1875T>C, NM_001324144.2:c.1869T>C, NM_001324144.1:c.1869T>C, NM_001324147.2:c.1869T>C, NM_001324147.1:c.1869T>C, NM_001324153.2:c.1899T>C, NM_001324153.1:c.1899T>C, NM_001324142.2:c.1875T>C, NM_001324142.1:c.1875T>C, NM_001324140.2:c.1869T>C, NM_001324140.1:c.1869T>C, NM_001324149.2:c.1611T>C, NM_001324149.1:c.1611T>C, NM_001324143.2:c.1611T>C, NM_001324143.1:c.1611T>C, NM_001324145.2:c.1611T>C, NM_001324145.1:c.1611T>C, NM_001324141.2:c.1611T>C, NM_001324141.1:c.1611T>C, NM_001324139.2:c.1611T>C, NM_001324139.1:c.1611T>C, NM_001324155.1:c.1995T>C, NM_001324154.1:c.1971T>C, NM_001324156.1:c.1767T>C, NM_001324157.1:c.1761T>C, XM_006724550.4:c.1971T>C, XM_006724550.3:c.1971T>C, XM_006724550.2:c.1971T>C, XM_006724550.1:c.1971T>C, XM_006724555.4:c.1899T>C, XM_006724555.3:c.1899T>C, XM_006724555.2:c.1899T>C, XM_006724555.1:c.1899T>C, XM_017029811.3:c.1971T>C, XM_017029811.2:c.1971T>C, XM_017029811.1:c.1971T>C, XM_017029810.3:c.1971T>C, XM_017029810.2:c.1971T>C, XM_017029810.1:c.1971T>C, XM_017029814.3:c.1971T>C, XM_017029814.2:c.1971T>C, XM_017029814.1:c.1971T>C, XM_017029812.2:c.1971T>C, XM_017029812.1:c.1971T>C, XM_017029813.2:c.1971T>C, XM_017029813.1:c.1971T>C, XM_017029815.2:c.1971T>C, XM_017029815.1:c.1971T>C, XM_017029816.2:c.1899T>C, XM_017029816.1:c.1899T>C, XM_017029817.2:c.1869T>C, XM_017029817.1:c.1869T>C, XM_047442475.1:c.1875T>C, XM_047442472.1:c.1899T>C, XM_047442474.1:c.1899T>C, XM_047442476.1:c.1875T>C, XM_047442479.1:c.1875T>C, XM_047442471.1:c.1971T>C, XM_047442473.1:c.1899T>C, XM_047442477.1:c.1875T>C, XM_047442481.1:c.1869T>C, XM_047442478.1:c.1875T>C, XM_047442480.1:c.1875T>C, XM_047442482.1:c.1869T>C, XM_047442483.1:c.1611T>C, XM_047442484.1:c.1611T>C

                  9.

                  rs1470803528 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    X:47447797 (GRCh38)
                    X:47307196 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:47447796:G:C
                    Gene:
                    ZNF41 (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=0.00001/1 (GnomAD)
                    HGVS:
                    NC_000023.11:g.47447797G>C, NC_000023.10:g.47307196G>C, NG_008238.1:g.40150C>G, NM_007130.4:c.1973C>G, NM_007130.3:c.1973C>G, NM_007130.2:c.1973C>G, NM_153380.3:c.1973C>G, NM_153380.2:c.1973C>G, NM_001324150.2:c.1973C>G, NM_001324150.1:c.1973C>G, NM_001324152.2:c.1715C>G, NM_001324152.1:c.1715C>G, NM_001324151.2:c.2003C>G, NM_001324151.1:c.2003C>G, NM_001324148.2:c.1979C>G, NM_001324148.1:c.1979C>G, NM_001324144.2:c.1973C>G, NM_001324144.1:c.1973C>G, NM_001324147.2:c.1973C>G, NM_001324147.1:c.1973C>G, NM_001324153.2:c.2003C>G, NM_001324153.1:c.2003C>G, NM_001324142.2:c.1979C>G, NM_001324142.1:c.1979C>G, NM_001324140.2:c.1973C>G, NM_001324140.1:c.1973C>G, NM_001324149.2:c.1715C>G, NM_001324149.1:c.1715C>G, NM_001324143.2:c.1715C>G, NM_001324143.1:c.1715C>G, NM_001324145.2:c.1715C>G, NM_001324145.1:c.1715C>G, NM_001324141.2:c.1715C>G, NM_001324141.1:c.1715C>G, NM_001324139.2:c.1715C>G, NM_001324139.1:c.1715C>G, NM_001324155.1:c.2099C>G, NM_001324154.1:c.2075C>G, NM_001324156.1:c.1871C>G, NM_001324157.1:c.1865C>G, XM_006724550.4:c.2075C>G, XM_006724550.3:c.2075C>G, XM_006724550.2:c.2075C>G, XM_006724550.1:c.2075C>G, XM_006724555.4:c.2003C>G, XM_006724555.3:c.2003C>G, XM_006724555.2:c.2003C>G, XM_006724555.1:c.2003C>G, XM_017029811.3:c.2075C>G, XM_017029811.2:c.2075C>G, XM_017029811.1:c.2075C>G, XM_017029810.3:c.2075C>G, XM_017029810.2:c.2075C>G, XM_017029810.1:c.2075C>G, XM_017029814.3:c.2075C>G, XM_017029814.2:c.2075C>G, XM_017029814.1:c.2075C>G, XM_017029812.2:c.2075C>G, XM_017029812.1:c.2075C>G, XM_017029813.2:c.2075C>G, XM_017029813.1:c.2075C>G, XM_017029815.2:c.2075C>G, XM_017029815.1:c.2075C>G, XM_017029816.2:c.2003C>G, XM_017029816.1:c.2003C>G, XM_017029817.2:c.1973C>G, XM_017029817.1:c.1973C>G, XM_047442475.1:c.1979C>G, XM_047442472.1:c.2003C>G, XM_047442474.1:c.2003C>G, XM_047442476.1:c.1979C>G, XM_047442479.1:c.1979C>G, XM_047442471.1:c.2075C>G, XM_047442473.1:c.2003C>G, XM_047442477.1:c.1979C>G, XM_047442481.1:c.1973C>G, XM_047442478.1:c.1979C>G, XM_047442480.1:c.1979C>G, XM_047442482.1:c.1973C>G, XM_047442483.1:c.1715C>G, XM_047442484.1:c.1715C>G, NP_009061.1:p.Thr658Arg, NP_700359.1:p.Thr658Arg, NP_001311079.1:p.Thr658Arg, NP_001311081.1:p.Thr572Arg, NP_001311080.1:p.Thr668Arg, NP_001311077.1:p.Thr660Arg, NP_001311073.1:p.Thr658Arg, NP_001311076.1:p.Thr658Arg, NP_001311082.1:p.Thr668Arg, NP_001311071.1:p.Thr660Arg, NP_001311069.1:p.Thr658Arg, NP_001311078.1:p.Thr572Arg, NP_001311072.1:p.Thr572Arg, NP_001311074.1:p.Thr572Arg, NP_001311070.1:p.Thr572Arg, NP_001311068.1:p.Thr572Arg, NP_001311084.1:p.Thr700Arg, NP_001311083.1:p.Thr692Arg, NP_001311085.1:p.Thr624Arg, NP_001311086.1:p.Thr622Arg, XP_006724613.1:p.Thr692Arg, XP_006724618.1:p.Thr668Arg, XP_016885300.1:p.Thr692Arg, XP_016885299.1:p.Thr692Arg, XP_016885303.1:p.Thr692Arg, XP_016885301.1:p.Thr692Arg, XP_016885302.1:p.Thr692Arg, XP_016885304.1:p.Thr692Arg, XP_016885305.1:p.Thr668Arg, XP_016885306.1:p.Thr658Arg, XP_047298431.1:p.Thr660Arg, XP_047298428.1:p.Thr668Arg, XP_047298430.1:p.Thr668Arg, XP_047298432.1:p.Thr660Arg, XP_047298435.1:p.Thr660Arg, XP_047298427.1:p.Thr692Arg, XP_047298429.1:p.Thr668Arg, XP_047298433.1:p.Thr660Arg, XP_047298437.1:p.Thr658Arg, XP_047298434.1:p.Thr660Arg, XP_047298436.1:p.Thr660Arg, XP_047298438.1:p.Thr658Arg, XP_047298439.1:p.Thr572Arg, XP_047298440.1:p.Thr572Arg

                    10.

                    rs1465602819 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:47447552 (GRCh38)
                      X:47306951 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:47447551:T:C
                      Gene:
                      ZNF41 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000019/2 (GnomAD)
                      HGVS:
                      NC_000023.11:g.47447552T>C, NC_000023.10:g.47306951T>C, NG_008238.1:g.40395A>G, NM_007130.4:c.2218A>G, NM_007130.3:c.2218A>G, NM_007130.2:c.2218A>G, NM_153380.3:c.2218A>G, NM_153380.2:c.2218A>G, NM_001324150.2:c.2218A>G, NM_001324150.1:c.2218A>G, NM_001324152.2:c.1960A>G, NM_001324152.1:c.1960A>G, NM_001324151.2:c.2248A>G, NM_001324151.1:c.2248A>G, NM_001324148.2:c.2224A>G, NM_001324148.1:c.2224A>G, NM_001324144.2:c.2218A>G, NM_001324144.1:c.2218A>G, NM_001324147.2:c.2218A>G, NM_001324147.1:c.2218A>G, NM_001324153.2:c.2248A>G, NM_001324153.1:c.2248A>G, NM_001324142.2:c.2224A>G, NM_001324142.1:c.2224A>G, NM_001324140.2:c.2218A>G, NM_001324140.1:c.2218A>G, NM_001324149.2:c.1960A>G, NM_001324149.1:c.1960A>G, NM_001324143.2:c.1960A>G, NM_001324143.1:c.1960A>G, NM_001324145.2:c.1960A>G, NM_001324145.1:c.1960A>G, NM_001324141.2:c.1960A>G, NM_001324141.1:c.1960A>G, NM_001324139.2:c.1960A>G, NM_001324139.1:c.1960A>G, NM_001324155.1:c.2344A>G, NM_001324154.1:c.2320A>G, NM_001324156.1:c.2116A>G, NM_001324157.1:c.2110A>G, XM_006724550.4:c.2320A>G, XM_006724550.3:c.2320A>G, XM_006724550.2:c.2320A>G, XM_006724550.1:c.2320A>G, XM_006724555.4:c.2248A>G, XM_006724555.3:c.2248A>G, XM_006724555.2:c.2248A>G, XM_006724555.1:c.2248A>G, XM_017029811.3:c.2320A>G, XM_017029811.2:c.2320A>G, XM_017029811.1:c.2320A>G, XM_017029810.3:c.2320A>G, XM_017029810.2:c.2320A>G, XM_017029810.1:c.2320A>G, XM_017029814.3:c.2320A>G, XM_017029814.2:c.2320A>G, XM_017029814.1:c.2320A>G, XM_017029812.2:c.2320A>G, XM_017029812.1:c.2320A>G, XM_017029813.2:c.2320A>G, XM_017029813.1:c.2320A>G, XM_017029815.2:c.2320A>G, XM_017029815.1:c.2320A>G, XM_017029816.2:c.2248A>G, XM_017029816.1:c.2248A>G, XM_017029817.2:c.2218A>G, XM_017029817.1:c.2218A>G, XM_047442475.1:c.2224A>G, XM_047442472.1:c.2248A>G, XM_047442474.1:c.2248A>G, XM_047442476.1:c.2224A>G, XM_047442479.1:c.2224A>G, XM_047442471.1:c.2320A>G, XM_047442473.1:c.2248A>G, XM_047442477.1:c.2224A>G, XM_047442481.1:c.2218A>G, XM_047442478.1:c.2224A>G, XM_047442480.1:c.2224A>G, XM_047442482.1:c.2218A>G, XM_047442483.1:c.1960A>G, XM_047442484.1:c.1960A>G, NP_009061.1:p.Ile740Val, NP_700359.1:p.Ile740Val, NP_001311079.1:p.Ile740Val, NP_001311081.1:p.Ile654Val, NP_001311080.1:p.Ile750Val, NP_001311077.1:p.Ile742Val, NP_001311073.1:p.Ile740Val, NP_001311076.1:p.Ile740Val, NP_001311082.1:p.Ile750Val, NP_001311071.1:p.Ile742Val, NP_001311069.1:p.Ile740Val, NP_001311078.1:p.Ile654Val, NP_001311072.1:p.Ile654Val, NP_001311074.1:p.Ile654Val, NP_001311070.1:p.Ile654Val, NP_001311068.1:p.Ile654Val, NP_001311084.1:p.Ile782Val, NP_001311083.1:p.Ile774Val, NP_001311085.1:p.Ile706Val, NP_001311086.1:p.Ile704Val, XP_006724613.1:p.Ile774Val, XP_006724618.1:p.Ile750Val, XP_016885300.1:p.Ile774Val, XP_016885299.1:p.Ile774Val, XP_016885303.1:p.Ile774Val, XP_016885301.1:p.Ile774Val, XP_016885302.1:p.Ile774Val, XP_016885304.1:p.Ile774Val, XP_016885305.1:p.Ile750Val, XP_016885306.1:p.Ile740Val, XP_047298431.1:p.Ile742Val, XP_047298428.1:p.Ile750Val, XP_047298430.1:p.Ile750Val, XP_047298432.1:p.Ile742Val, XP_047298435.1:p.Ile742Val, XP_047298427.1:p.Ile774Val, XP_047298429.1:p.Ile750Val, XP_047298433.1:p.Ile742Val, XP_047298437.1:p.Ile740Val, XP_047298434.1:p.Ile742Val, XP_047298436.1:p.Ile742Val, XP_047298438.1:p.Ile740Val, XP_047298439.1:p.Ile654Val, XP_047298440.1:p.Ile654Val

                      11.

                      rs1464367750 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        X:47449458 (GRCh38)
                        X:47308857 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:47449457:T:A
                        Gene:
                        ZNF41 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000006/1 (GnomAD_exomes)
                        A=0.00001/1 (GnomAD)
                        HGVS:
                        NC_000023.11:g.47449458T>A, NC_000023.10:g.47308857T>A, NG_008238.1:g.38489A>T, NM_007130.4:c.312A>T, NM_007130.3:c.312A>T, NM_007130.2:c.312A>T, NM_153380.3:c.312A>T, NM_153380.2:c.312A>T, NM_001324150.2:c.312A>T, NM_001324150.1:c.312A>T, NM_001324152.2:c.54A>T, NM_001324152.1:c.54A>T, NM_001324151.2:c.342A>T, NM_001324151.1:c.342A>T, NM_001324148.2:c.318A>T, NM_001324148.1:c.318A>T, NM_001324144.2:c.312A>T, NM_001324144.1:c.312A>T, NM_001324147.2:c.312A>T, NM_001324147.1:c.312A>T, NM_001324153.2:c.342A>T, NM_001324153.1:c.342A>T, NM_001324142.2:c.318A>T, NM_001324142.1:c.318A>T, NM_001324140.2:c.312A>T, NM_001324140.1:c.312A>T, NM_001324149.2:c.54A>T, NM_001324149.1:c.54A>T, NM_001324143.2:c.54A>T, NM_001324143.1:c.54A>T, NM_001324145.2:c.54A>T, NM_001324145.1:c.54A>T, NM_001324141.2:c.54A>T, NM_001324141.1:c.54A>T, NM_001324139.2:c.54A>T, NM_001324139.1:c.54A>T, NM_001324155.1:c.438A>T, NM_001324154.1:c.414A>T, XM_006724550.4:c.414A>T, XM_006724550.3:c.414A>T, XM_006724550.2:c.414A>T, XM_006724550.1:c.414A>T, XM_006724555.4:c.342A>T, XM_006724555.3:c.342A>T, XM_006724555.2:c.342A>T, XM_006724555.1:c.342A>T, XM_017029811.3:c.414A>T, XM_017029811.2:c.414A>T, XM_017029811.1:c.414A>T, XM_017029810.3:c.414A>T, XM_017029810.2:c.414A>T, XM_017029810.1:c.414A>T, XM_017029814.3:c.414A>T, XM_017029814.2:c.414A>T, XM_017029814.1:c.414A>T, XM_017029812.2:c.414A>T, XM_017029812.1:c.414A>T, XM_017029813.2:c.414A>T, XM_017029813.1:c.414A>T, XM_017029815.2:c.414A>T, XM_017029815.1:c.414A>T, XM_017029816.2:c.342A>T, XM_017029816.1:c.342A>T, XM_017029817.2:c.312A>T, XM_017029817.1:c.312A>T, XM_047442475.1:c.318A>T, XM_047442472.1:c.342A>T, XM_047442474.1:c.342A>T, XM_047442476.1:c.318A>T, XM_047442479.1:c.318A>T, XM_047442471.1:c.414A>T, XM_047442473.1:c.342A>T, XM_047442477.1:c.318A>T, XM_047442481.1:c.312A>T, XM_047442478.1:c.318A>T, XM_047442480.1:c.318A>T, XM_047442482.1:c.312A>T, XM_047442483.1:c.54A>T, XM_047442484.1:c.54A>T, NP_009061.1:p.Lys104Asn, NP_700359.1:p.Lys104Asn, NP_001311079.1:p.Lys104Asn, NP_001311081.1:p.Lys18Asn, NP_001311080.1:p.Lys114Asn, NP_001311077.1:p.Lys106Asn, NP_001311073.1:p.Lys104Asn, NP_001311076.1:p.Lys104Asn, NP_001311082.1:p.Lys114Asn, NP_001311071.1:p.Lys106Asn, NP_001311069.1:p.Lys104Asn, NP_001311078.1:p.Lys18Asn, NP_001311072.1:p.Lys18Asn, NP_001311074.1:p.Lys18Asn, NP_001311070.1:p.Lys18Asn, NP_001311068.1:p.Lys18Asn, NP_001311084.1:p.Lys146Asn, NP_001311083.1:p.Lys138Asn, XP_006724613.1:p.Lys138Asn, XP_006724618.1:p.Lys114Asn, XP_016885300.1:p.Lys138Asn, XP_016885299.1:p.Lys138Asn, XP_016885303.1:p.Lys138Asn, XP_016885301.1:p.Lys138Asn, XP_016885302.1:p.Lys138Asn, XP_016885304.1:p.Lys138Asn, XP_016885305.1:p.Lys114Asn, XP_016885306.1:p.Lys104Asn, XP_047298431.1:p.Lys106Asn, XP_047298428.1:p.Lys114Asn, XP_047298430.1:p.Lys114Asn, XP_047298432.1:p.Lys106Asn, XP_047298435.1:p.Lys106Asn, XP_047298427.1:p.Lys138Asn, XP_047298429.1:p.Lys114Asn, XP_047298433.1:p.Lys106Asn, XP_047298437.1:p.Lys104Asn, XP_047298434.1:p.Lys106Asn, XP_047298436.1:p.Lys106Asn, XP_047298438.1:p.Lys104Asn, XP_047298439.1:p.Lys18Asn, XP_047298440.1:p.Lys18Asn

                        12.

                        rs1461263974 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          X:47455941 (GRCh38)
                          X:47315340 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:47455940:G:T
                          Gene:
                          ZNF41 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000108/2 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.00001/1 (GnomAD)
                          T=0.000016/3 (GnomAD_exomes)
                          HGVS:
                          NC_000023.11:g.47455941G>T, NC_000023.10:g.47315340G>T, NG_008238.1:g.32006C>A, NM_007130.4:c.275C>A, NM_007130.3:c.275C>A, NM_007130.2:c.275C>A, NM_153380.3:c.275C>A, NM_153380.2:c.275C>A, NM_001324150.2:c.275C>A, NM_001324150.1:c.275C>A, NM_001324152.2:c.17C>A, NM_001324152.1:c.17C>A, NM_001324151.2:c.305C>A, NM_001324151.1:c.305C>A, NM_001324148.2:c.281C>A, NM_001324148.1:c.281C>A, NM_001324144.2:c.275C>A, NM_001324144.1:c.275C>A, NM_001324147.2:c.275C>A, NM_001324147.1:c.275C>A, NM_001324153.2:c.305C>A, NM_001324153.1:c.305C>A, NM_001324142.2:c.281C>A, NM_001324142.1:c.281C>A, NM_001324140.2:c.275C>A, NM_001324140.1:c.275C>A, NM_001324149.2:c.17C>A, NM_001324149.1:c.17C>A, NM_001324143.2:c.17C>A, NM_001324143.1:c.17C>A, NM_001324145.2:c.17C>A, NM_001324145.1:c.17C>A, NM_001324141.2:c.17C>A, NM_001324141.1:c.17C>A, NM_001324139.2:c.17C>A, NM_001324139.1:c.17C>A, NM_001324155.1:c.401C>A, NM_001324154.1:c.377C>A, NM_001324156.1:c.281C>A, NM_001324157.1:c.275C>A, XM_006724550.4:c.377C>A, XM_006724550.3:c.377C>A, XM_006724550.2:c.377C>A, XM_006724550.1:c.377C>A, XM_006724555.4:c.305C>A, XM_006724555.3:c.305C>A, XM_006724555.2:c.305C>A, XM_006724555.1:c.305C>A, XM_017029811.3:c.377C>A, XM_017029811.2:c.377C>A, XM_017029811.1:c.377C>A, XM_017029810.3:c.377C>A, XM_017029810.2:c.377C>A, XM_017029810.1:c.377C>A, XM_017029814.3:c.377C>A, XM_017029814.2:c.377C>A, XM_017029814.1:c.377C>A, XM_017029812.2:c.377C>A, XM_017029812.1:c.377C>A, XM_017029813.2:c.377C>A, XM_017029813.1:c.377C>A, XM_017029815.2:c.377C>A, XM_017029815.1:c.377C>A, XM_017029816.2:c.305C>A, XM_017029816.1:c.305C>A, XM_017029817.2:c.275C>A, XM_017029817.1:c.275C>A, XM_047442475.1:c.281C>A, XM_047442472.1:c.305C>A, XM_047442474.1:c.305C>A, XM_047442476.1:c.281C>A, XM_047442479.1:c.281C>A, XM_047442471.1:c.377C>A, XM_047442473.1:c.305C>A, XM_047442477.1:c.281C>A, XM_047442481.1:c.275C>A, XM_047442478.1:c.281C>A, XM_047442480.1:c.281C>A, XM_047442482.1:c.275C>A, XM_047442483.1:c.17C>A, XM_047442484.1:c.17C>A, NP_009061.1:p.Ala92Asp, NP_700359.1:p.Ala92Asp, NP_001311079.1:p.Ala92Asp, NP_001311081.1:p.Ala6Asp, NP_001311080.1:p.Ala102Asp, NP_001311077.1:p.Ala94Asp, NP_001311073.1:p.Ala92Asp, NP_001311076.1:p.Ala92Asp, NP_001311082.1:p.Ala102Asp, NP_001311071.1:p.Ala94Asp, NP_001311069.1:p.Ala92Asp, NP_001311078.1:p.Ala6Asp, NP_001311072.1:p.Ala6Asp, NP_001311074.1:p.Ala6Asp, NP_001311070.1:p.Ala6Asp, NP_001311068.1:p.Ala6Asp, NP_001311084.1:p.Ala134Asp, NP_001311083.1:p.Ala126Asp, NP_001311085.1:p.Ala94Asp, NP_001311086.1:p.Ala92Asp, XP_006724613.1:p.Ala126Asp, XP_006724618.1:p.Ala102Asp, XP_016885300.1:p.Ala126Asp, XP_016885299.1:p.Ala126Asp, XP_016885303.1:p.Ala126Asp, XP_016885301.1:p.Ala126Asp, XP_016885302.1:p.Ala126Asp, XP_016885304.1:p.Ala126Asp, XP_016885305.1:p.Ala102Asp, XP_016885306.1:p.Ala92Asp, XP_047298431.1:p.Ala94Asp, XP_047298428.1:p.Ala102Asp, XP_047298430.1:p.Ala102Asp, XP_047298432.1:p.Ala94Asp, XP_047298435.1:p.Ala94Asp, XP_047298427.1:p.Ala126Asp, XP_047298429.1:p.Ala102Asp, XP_047298433.1:p.Ala94Asp, XP_047298437.1:p.Ala92Asp, XP_047298434.1:p.Ala94Asp, XP_047298436.1:p.Ala94Asp, XP_047298438.1:p.Ala92Asp, XP_047298439.1:p.Ala6Asp, XP_047298440.1:p.Ala6Asp

                          13.

                          rs1460883258 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:47447754 (GRCh38)
                            X:47307153 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:47447753:G:A
                            Gene:
                            ZNF41 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.47447754G>A, NC_000023.10:g.47307153G>A, NG_008238.1:g.40193C>T, NM_007130.4:c.2016C>T, NM_007130.3:c.2016C>T, NM_007130.2:c.2016C>T, NM_153380.3:c.2016C>T, NM_153380.2:c.2016C>T, NM_001324150.2:c.2016C>T, NM_001324150.1:c.2016C>T, NM_001324152.2:c.1758C>T, NM_001324152.1:c.1758C>T, NM_001324151.2:c.2046C>T, NM_001324151.1:c.2046C>T, NM_001324148.2:c.2022C>T, NM_001324148.1:c.2022C>T, NM_001324144.2:c.2016C>T, NM_001324144.1:c.2016C>T, NM_001324147.2:c.2016C>T, NM_001324147.1:c.2016C>T, NM_001324153.2:c.2046C>T, NM_001324153.1:c.2046C>T, NM_001324142.2:c.2022C>T, NM_001324142.1:c.2022C>T, NM_001324140.2:c.2016C>T, NM_001324140.1:c.2016C>T, NM_001324149.2:c.1758C>T, NM_001324149.1:c.1758C>T, NM_001324143.2:c.1758C>T, NM_001324143.1:c.1758C>T, NM_001324145.2:c.1758C>T, NM_001324145.1:c.1758C>T, NM_001324141.2:c.1758C>T, NM_001324141.1:c.1758C>T, NM_001324139.2:c.1758C>T, NM_001324139.1:c.1758C>T, NM_001324155.1:c.2142C>T, NM_001324154.1:c.2118C>T, NM_001324156.1:c.1914C>T, NM_001324157.1:c.1908C>T, XM_006724550.4:c.2118C>T, XM_006724550.3:c.2118C>T, XM_006724550.2:c.2118C>T, XM_006724550.1:c.2118C>T, XM_006724555.4:c.2046C>T, XM_006724555.3:c.2046C>T, XM_006724555.2:c.2046C>T, XM_006724555.1:c.2046C>T, XM_017029811.3:c.2118C>T, XM_017029811.2:c.2118C>T, XM_017029811.1:c.2118C>T, XM_017029810.3:c.2118C>T, XM_017029810.2:c.2118C>T, XM_017029810.1:c.2118C>T, XM_017029814.3:c.2118C>T, XM_017029814.2:c.2118C>T, XM_017029814.1:c.2118C>T, XM_017029812.2:c.2118C>T, XM_017029812.1:c.2118C>T, XM_017029813.2:c.2118C>T, XM_017029813.1:c.2118C>T, XM_017029815.2:c.2118C>T, XM_017029815.1:c.2118C>T, XM_017029816.2:c.2046C>T, XM_017029816.1:c.2046C>T, XM_017029817.2:c.2016C>T, XM_017029817.1:c.2016C>T, XM_047442475.1:c.2022C>T, XM_047442472.1:c.2046C>T, XM_047442474.1:c.2046C>T, XM_047442476.1:c.2022C>T, XM_047442479.1:c.2022C>T, XM_047442471.1:c.2118C>T, XM_047442473.1:c.2046C>T, XM_047442477.1:c.2022C>T, XM_047442481.1:c.2016C>T, XM_047442478.1:c.2022C>T, XM_047442480.1:c.2022C>T, XM_047442482.1:c.2016C>T, XM_047442483.1:c.1758C>T, XM_047442484.1:c.1758C>T

                            14.

                            rs1459047149 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTGAGTACACA>- [Show Flanks]
                              Chromosome:
                              X:47448777 (GRCh38)
                              X:47308176 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:47448772:CACATTGAGTACACA:CACA
                              Gene:
                              ZNF41 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CACA=0./0 (ALFA)
                              HGVS:
                              NC_000023.11:g.47448777_47448787del, NC_000023.10:g.47308176_47308186del, NG_008238.1:g.39164_39174del, NM_007130.4:c.987_997del, NM_007130.3:c.987_997del, NM_007130.2:c.987_997del, NM_153380.3:c.987_997del, NM_153380.2:c.987_997del, NM_001324150.2:c.987_997del, NM_001324150.1:c.987_997del, NM_001324152.2:c.729_739del, NM_001324152.1:c.729_739del, NM_001324151.2:c.1017_1027del, NM_001324151.1:c.1017_1027del, NM_001324148.2:c.993_1003del, NM_001324148.1:c.993_1003del, NM_001324144.2:c.987_997del, NM_001324144.1:c.987_997del, NM_001324147.2:c.987_997del, NM_001324147.1:c.987_997del, NM_001324153.2:c.1017_1027del, NM_001324153.1:c.1017_1027del, NM_001324142.2:c.993_1003del, NM_001324142.1:c.993_1003del, NM_001324140.2:c.987_997del, NM_001324140.1:c.987_997del, NM_001324149.2:c.729_739del, NM_001324149.1:c.729_739del, NM_001324143.2:c.729_739del, NM_001324143.1:c.729_739del, NM_001324145.2:c.729_739del, NM_001324145.1:c.729_739del, NM_001324141.2:c.729_739del, NM_001324141.1:c.729_739del, NM_001324139.2:c.729_739del, NM_001324139.1:c.729_739del, NM_001324155.1:c.1113_1123del, NM_001324154.1:c.1089_1099del, NM_001324156.1:c.885_895del, NM_001324157.1:c.879_889del, XM_006724550.4:c.1089_1099del, XM_006724550.3:c.1089_1099del, XM_006724550.2:c.1089_1099del, XM_006724550.1:c.1089_1099del, XM_006724555.4:c.1017_1027del, XM_006724555.3:c.1017_1027del, XM_006724555.2:c.1017_1027del, XM_006724555.1:c.1017_1027del, XM_017029811.3:c.1089_1099del, XM_017029811.2:c.1089_1099del, XM_017029811.1:c.1089_1099del, XM_017029810.3:c.1089_1099del, XM_017029810.2:c.1089_1099del, XM_017029810.1:c.1089_1099del, XM_017029814.3:c.1089_1099del, XM_017029814.2:c.1089_1099del, XM_017029814.1:c.1089_1099del, XM_017029812.2:c.1089_1099del, XM_017029812.1:c.1089_1099del, XM_017029813.2:c.1089_1099del, XM_017029813.1:c.1089_1099del, XM_017029815.2:c.1089_1099del, XM_017029815.1:c.1089_1099del, XM_017029816.2:c.1017_1027del, XM_017029816.1:c.1017_1027del, XM_017029817.2:c.987_997del, XM_017029817.1:c.987_997del, XM_047442475.1:c.993_1003del, XM_047442472.1:c.1017_1027del, XM_047442474.1:c.1017_1027del, XM_047442476.1:c.993_1003del, XM_047442479.1:c.993_1003del, XM_047442471.1:c.1089_1099del, XM_047442473.1:c.1017_1027del, XM_047442477.1:c.993_1003del, XM_047442481.1:c.987_997del, XM_047442478.1:c.993_1003del, XM_047442480.1:c.993_1003del, XM_047442482.1:c.987_997del, XM_047442483.1:c.729_739del, XM_047442484.1:c.729_739del, NP_009061.1:p.Cys329fs, NP_700359.1:p.Cys329fs, NP_001311079.1:p.Cys329fs, NP_001311081.1:p.Cys243fs, NP_001311080.1:p.Cys339fs, NP_001311077.1:p.Cys331fs, NP_001311073.1:p.Cys329fs, NP_001311076.1:p.Cys329fs, NP_001311082.1:p.Cys339fs, NP_001311071.1:p.Cys331fs, NP_001311069.1:p.Cys329fs, NP_001311078.1:p.Cys243fs, NP_001311072.1:p.Cys243fs, NP_001311074.1:p.Cys243fs, NP_001311070.1:p.Cys243fs, NP_001311068.1:p.Cys243fs, NP_001311084.1:p.Cys371fs, NP_001311083.1:p.Cys363fs, NP_001311085.1:p.Cys295fs, NP_001311086.1:p.Cys293fs, XP_006724613.1:p.Cys363fs, XP_006724618.1:p.Cys339fs, XP_016885300.1:p.Cys363fs, XP_016885299.1:p.Cys363fs, XP_016885303.1:p.Cys363fs, XP_016885301.1:p.Cys363fs, XP_016885302.1:p.Cys363fs, XP_016885304.1:p.Cys363fs, XP_016885305.1:p.Cys339fs, XP_016885306.1:p.Cys329fs, XP_047298431.1:p.Cys331fs, XP_047298428.1:p.Cys339fs, XP_047298430.1:p.Cys339fs, XP_047298432.1:p.Cys331fs, XP_047298435.1:p.Cys331fs, XP_047298427.1:p.Cys363fs, XP_047298429.1:p.Cys339fs, XP_047298433.1:p.Cys331fs, XP_047298437.1:p.Cys329fs, XP_047298434.1:p.Cys331fs, XP_047298436.1:p.Cys331fs, XP_047298438.1:p.Cys329fs, XP_047298439.1:p.Cys243fs, XP_047298440.1:p.Cys243fs

                              15.

                              rs1456317427 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:47448908 (GRCh38)
                                X:47308307 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:47448907:C:T
                                Gene:
                                ZNF41 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000023.11:g.47448908C>T, NC_000023.10:g.47308307C>T, NG_008238.1:g.39039G>A, NM_007130.4:c.862G>A, NM_007130.3:c.862G>A, NM_007130.2:c.862G>A, NM_153380.3:c.862G>A, NM_153380.2:c.862G>A, NM_001324150.2:c.862G>A, NM_001324150.1:c.862G>A, NM_001324152.2:c.604G>A, NM_001324152.1:c.604G>A, NM_001324151.2:c.892G>A, NM_001324151.1:c.892G>A, NM_001324148.2:c.868G>A, NM_001324148.1:c.868G>A, NM_001324144.2:c.862G>A, NM_001324144.1:c.862G>A, NM_001324147.2:c.862G>A, NM_001324147.1:c.862G>A, NM_001324153.2:c.892G>A, NM_001324153.1:c.892G>A, NM_001324142.2:c.868G>A, NM_001324142.1:c.868G>A, NM_001324140.2:c.862G>A, NM_001324140.1:c.862G>A, NM_001324149.2:c.604G>A, NM_001324149.1:c.604G>A, NM_001324143.2:c.604G>A, NM_001324143.1:c.604G>A, NM_001324145.2:c.604G>A, NM_001324145.1:c.604G>A, NM_001324141.2:c.604G>A, NM_001324141.1:c.604G>A, NM_001324139.2:c.604G>A, NM_001324139.1:c.604G>A, NM_001324155.1:c.988G>A, NM_001324154.1:c.964G>A, NM_001324156.1:c.760G>A, NM_001324157.1:c.754G>A, XM_006724550.4:c.964G>A, XM_006724550.3:c.964G>A, XM_006724550.2:c.964G>A, XM_006724550.1:c.964G>A, XM_006724555.4:c.892G>A, XM_006724555.3:c.892G>A, XM_006724555.2:c.892G>A, XM_006724555.1:c.892G>A, XM_017029811.3:c.964G>A, XM_017029811.2:c.964G>A, XM_017029811.1:c.964G>A, XM_017029810.3:c.964G>A, XM_017029810.2:c.964G>A, XM_017029810.1:c.964G>A, XM_017029814.3:c.964G>A, XM_017029814.2:c.964G>A, XM_017029814.1:c.964G>A, XM_017029812.2:c.964G>A, XM_017029812.1:c.964G>A, XM_017029813.2:c.964G>A, XM_017029813.1:c.964G>A, XM_017029815.2:c.964G>A, XM_017029815.1:c.964G>A, XM_017029816.2:c.892G>A, XM_017029816.1:c.892G>A, XM_017029817.2:c.862G>A, XM_017029817.1:c.862G>A, XM_047442475.1:c.868G>A, XM_047442472.1:c.892G>A, XM_047442474.1:c.892G>A, XM_047442476.1:c.868G>A, XM_047442479.1:c.868G>A, XM_047442471.1:c.964G>A, XM_047442473.1:c.892G>A, XM_047442477.1:c.868G>A, XM_047442481.1:c.862G>A, XM_047442478.1:c.868G>A, XM_047442480.1:c.868G>A, XM_047442482.1:c.862G>A, XM_047442483.1:c.604G>A, XM_047442484.1:c.604G>A, NP_009061.1:p.Glu288Lys, NP_700359.1:p.Glu288Lys, NP_001311079.1:p.Glu288Lys, NP_001311081.1:p.Glu202Lys, NP_001311080.1:p.Glu298Lys, NP_001311077.1:p.Glu290Lys, NP_001311073.1:p.Glu288Lys, NP_001311076.1:p.Glu288Lys, NP_001311082.1:p.Glu298Lys, NP_001311071.1:p.Glu290Lys, NP_001311069.1:p.Glu288Lys, NP_001311078.1:p.Glu202Lys, NP_001311072.1:p.Glu202Lys, NP_001311074.1:p.Glu202Lys, NP_001311070.1:p.Glu202Lys, NP_001311068.1:p.Glu202Lys, NP_001311084.1:p.Glu330Lys, NP_001311083.1:p.Glu322Lys, NP_001311085.1:p.Glu254Lys, NP_001311086.1:p.Glu252Lys, XP_006724613.1:p.Glu322Lys, XP_006724618.1:p.Glu298Lys, XP_016885300.1:p.Glu322Lys, XP_016885299.1:p.Glu322Lys, XP_016885303.1:p.Glu322Lys, XP_016885301.1:p.Glu322Lys, XP_016885302.1:p.Glu322Lys, XP_016885304.1:p.Glu322Lys, XP_016885305.1:p.Glu298Lys, XP_016885306.1:p.Glu288Lys, XP_047298431.1:p.Glu290Lys, XP_047298428.1:p.Glu298Lys, XP_047298430.1:p.Glu298Lys, XP_047298432.1:p.Glu290Lys, XP_047298435.1:p.Glu290Lys, XP_047298427.1:p.Glu322Lys, XP_047298429.1:p.Glu298Lys, XP_047298433.1:p.Glu290Lys, XP_047298437.1:p.Glu288Lys, XP_047298434.1:p.Glu290Lys, XP_047298436.1:p.Glu290Lys, XP_047298438.1:p.Glu288Lys, XP_047298439.1:p.Glu202Lys, XP_047298440.1:p.Glu202Lys

                                16.

                                rs1452806986 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  X:47449340 (GRCh38)
                                  X:47308739 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:47449339:G:C
                                  Gene:
                                  ZNF41 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.47449340G>C, NC_000023.10:g.47308739G>C, NG_008238.1:g.38607C>G, NM_007130.4:c.430C>G, NM_007130.3:c.430C>G, NM_007130.2:c.430C>G, NM_153380.3:c.430C>G, NM_153380.2:c.430C>G, NM_001324150.2:c.430C>G, NM_001324150.1:c.430C>G, NM_001324152.2:c.172C>G, NM_001324152.1:c.172C>G, NM_001324151.2:c.460C>G, NM_001324151.1:c.460C>G, NM_001324148.2:c.436C>G, NM_001324148.1:c.436C>G, NM_001324144.2:c.430C>G, NM_001324144.1:c.430C>G, NM_001324147.2:c.430C>G, NM_001324147.1:c.430C>G, NM_001324153.2:c.460C>G, NM_001324153.1:c.460C>G, NM_001324142.2:c.436C>G, NM_001324142.1:c.436C>G, NM_001324140.2:c.430C>G, NM_001324140.1:c.430C>G, NM_001324149.2:c.172C>G, NM_001324149.1:c.172C>G, NM_001324143.2:c.172C>G, NM_001324143.1:c.172C>G, NM_001324145.2:c.172C>G, NM_001324145.1:c.172C>G, NM_001324141.2:c.172C>G, NM_001324141.1:c.172C>G, NM_001324139.2:c.172C>G, NM_001324139.1:c.172C>G, NM_001324155.1:c.556C>G, NM_001324154.1:c.532C>G, NM_001324156.1:c.328C>G, NM_001324157.1:c.322C>G, XM_006724550.4:c.532C>G, XM_006724550.3:c.532C>G, XM_006724550.2:c.532C>G, XM_006724550.1:c.532C>G, XM_006724555.4:c.460C>G, XM_006724555.3:c.460C>G, XM_006724555.2:c.460C>G, XM_006724555.1:c.460C>G, XM_017029811.3:c.532C>G, XM_017029811.2:c.532C>G, XM_017029811.1:c.532C>G, XM_017029810.3:c.532C>G, XM_017029810.2:c.532C>G, XM_017029810.1:c.532C>G, XM_017029814.3:c.532C>G, XM_017029814.2:c.532C>G, XM_017029814.1:c.532C>G, XM_017029812.2:c.532C>G, XM_017029812.1:c.532C>G, XM_017029813.2:c.532C>G, XM_017029813.1:c.532C>G, XM_017029815.2:c.532C>G, XM_017029815.1:c.532C>G, XM_017029816.2:c.460C>G, XM_017029816.1:c.460C>G, XM_017029817.2:c.430C>G, XM_017029817.1:c.430C>G, XM_047442475.1:c.436C>G, XM_047442472.1:c.460C>G, XM_047442474.1:c.460C>G, XM_047442476.1:c.436C>G, XM_047442479.1:c.436C>G, XM_047442471.1:c.532C>G, XM_047442473.1:c.460C>G, XM_047442477.1:c.436C>G, XM_047442481.1:c.430C>G, XM_047442478.1:c.436C>G, XM_047442480.1:c.436C>G, XM_047442482.1:c.430C>G, XM_047442483.1:c.172C>G, XM_047442484.1:c.172C>G, NP_009061.1:p.Leu144Val, NP_700359.1:p.Leu144Val, NP_001311079.1:p.Leu144Val, NP_001311081.1:p.Leu58Val, NP_001311080.1:p.Leu154Val, NP_001311077.1:p.Leu146Val, NP_001311073.1:p.Leu144Val, NP_001311076.1:p.Leu144Val, NP_001311082.1:p.Leu154Val, NP_001311071.1:p.Leu146Val, NP_001311069.1:p.Leu144Val, NP_001311078.1:p.Leu58Val, NP_001311072.1:p.Leu58Val, NP_001311074.1:p.Leu58Val, NP_001311070.1:p.Leu58Val, NP_001311068.1:p.Leu58Val, NP_001311084.1:p.Leu186Val, NP_001311083.1:p.Leu178Val, NP_001311085.1:p.Leu110Val, NP_001311086.1:p.Leu108Val, XP_006724613.1:p.Leu178Val, XP_006724618.1:p.Leu154Val, XP_016885300.1:p.Leu178Val, XP_016885299.1:p.Leu178Val, XP_016885303.1:p.Leu178Val, XP_016885301.1:p.Leu178Val, XP_016885302.1:p.Leu178Val, XP_016885304.1:p.Leu178Val, XP_016885305.1:p.Leu154Val, XP_016885306.1:p.Leu144Val, XP_047298431.1:p.Leu146Val, XP_047298428.1:p.Leu154Val, XP_047298430.1:p.Leu154Val, XP_047298432.1:p.Leu146Val, XP_047298435.1:p.Leu146Val, XP_047298427.1:p.Leu178Val, XP_047298429.1:p.Leu154Val, XP_047298433.1:p.Leu146Val, XP_047298437.1:p.Leu144Val, XP_047298434.1:p.Leu146Val, XP_047298436.1:p.Leu146Val, XP_047298438.1:p.Leu144Val, XP_047298439.1:p.Leu58Val, XP_047298440.1:p.Leu58Val

                                  17.

                                  rs1452077564 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:47448272 (GRCh38)
                                    X:47307671 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:47448271:A:G
                                    Gene:
                                    ZNF41 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000023.11:g.47448272A>G, NC_000023.10:g.47307671A>G, NG_008238.1:g.39675T>C, NM_007130.4:c.1498T>C, NM_007130.3:c.1498T>C, NM_007130.2:c.1498T>C, NM_153380.3:c.1498T>C, NM_153380.2:c.1498T>C, NM_001324150.2:c.1498T>C, NM_001324150.1:c.1498T>C, NM_001324152.2:c.1240T>C, NM_001324152.1:c.1240T>C, NM_001324151.2:c.1528T>C, NM_001324151.1:c.1528T>C, NM_001324148.2:c.1504T>C, NM_001324148.1:c.1504T>C, NM_001324144.2:c.1498T>C, NM_001324144.1:c.1498T>C, NM_001324147.2:c.1498T>C, NM_001324147.1:c.1498T>C, NM_001324153.2:c.1528T>C, NM_001324153.1:c.1528T>C, NM_001324142.2:c.1504T>C, NM_001324142.1:c.1504T>C, NM_001324140.2:c.1498T>C, NM_001324140.1:c.1498T>C, NM_001324149.2:c.1240T>C, NM_001324149.1:c.1240T>C, NM_001324143.2:c.1240T>C, NM_001324143.1:c.1240T>C, NM_001324145.2:c.1240T>C, NM_001324145.1:c.1240T>C, NM_001324141.2:c.1240T>C, NM_001324141.1:c.1240T>C, NM_001324139.2:c.1240T>C, NM_001324139.1:c.1240T>C, NM_001324155.1:c.1624T>C, NM_001324154.1:c.1600T>C, NM_001324156.1:c.1396T>C, NM_001324157.1:c.1390T>C, XM_006724550.4:c.1600T>C, XM_006724550.3:c.1600T>C, XM_006724550.2:c.1600T>C, XM_006724550.1:c.1600T>C, XM_006724555.4:c.1528T>C, XM_006724555.3:c.1528T>C, XM_006724555.2:c.1528T>C, XM_006724555.1:c.1528T>C, XM_017029811.3:c.1600T>C, XM_017029811.2:c.1600T>C, XM_017029811.1:c.1600T>C, XM_017029810.3:c.1600T>C, XM_017029810.2:c.1600T>C, XM_017029810.1:c.1600T>C, XM_017029814.3:c.1600T>C, XM_017029814.2:c.1600T>C, XM_017029814.1:c.1600T>C, XM_017029812.2:c.1600T>C, XM_017029812.1:c.1600T>C, XM_017029813.2:c.1600T>C, XM_017029813.1:c.1600T>C, XM_017029815.2:c.1600T>C, XM_017029815.1:c.1600T>C, XM_017029816.2:c.1528T>C, XM_017029816.1:c.1528T>C, XM_017029817.2:c.1498T>C, XM_017029817.1:c.1498T>C, XM_047442475.1:c.1504T>C, XM_047442472.1:c.1528T>C, XM_047442474.1:c.1528T>C, XM_047442476.1:c.1504T>C, XM_047442479.1:c.1504T>C, XM_047442471.1:c.1600T>C, XM_047442473.1:c.1528T>C, XM_047442477.1:c.1504T>C, XM_047442481.1:c.1498T>C, XM_047442478.1:c.1504T>C, XM_047442480.1:c.1504T>C, XM_047442482.1:c.1498T>C, XM_047442483.1:c.1240T>C, XM_047442484.1:c.1240T>C, NP_009061.1:p.Cys500Arg, NP_700359.1:p.Cys500Arg, NP_001311079.1:p.Cys500Arg, NP_001311081.1:p.Cys414Arg, NP_001311080.1:p.Cys510Arg, NP_001311077.1:p.Cys502Arg, NP_001311073.1:p.Cys500Arg, NP_001311076.1:p.Cys500Arg, NP_001311082.1:p.Cys510Arg, NP_001311071.1:p.Cys502Arg, NP_001311069.1:p.Cys500Arg, NP_001311078.1:p.Cys414Arg, NP_001311072.1:p.Cys414Arg, NP_001311074.1:p.Cys414Arg, NP_001311070.1:p.Cys414Arg, NP_001311068.1:p.Cys414Arg, NP_001311084.1:p.Cys542Arg, NP_001311083.1:p.Cys534Arg, NP_001311085.1:p.Cys466Arg, NP_001311086.1:p.Cys464Arg, XP_006724613.1:p.Cys534Arg, XP_006724618.1:p.Cys510Arg, XP_016885300.1:p.Cys534Arg, XP_016885299.1:p.Cys534Arg, XP_016885303.1:p.Cys534Arg, XP_016885301.1:p.Cys534Arg, XP_016885302.1:p.Cys534Arg, XP_016885304.1:p.Cys534Arg, XP_016885305.1:p.Cys510Arg, XP_016885306.1:p.Cys500Arg, XP_047298431.1:p.Cys502Arg, XP_047298428.1:p.Cys510Arg, XP_047298430.1:p.Cys510Arg, XP_047298432.1:p.Cys502Arg, XP_047298435.1:p.Cys502Arg, XP_047298427.1:p.Cys534Arg, XP_047298429.1:p.Cys510Arg, XP_047298433.1:p.Cys502Arg, XP_047298437.1:p.Cys500Arg, XP_047298434.1:p.Cys502Arg, XP_047298436.1:p.Cys502Arg, XP_047298438.1:p.Cys500Arg, XP_047298439.1:p.Cys414Arg, XP_047298440.1:p.Cys414Arg

                                    18.

                                    rs1449098830 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:47455952 (GRCh38)
                                      X:47315351 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:47455951:C:T
                                      Gene:
                                      ZNF41 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.47455952C>T, NC_000023.10:g.47315351C>T, NG_008238.1:g.31995G>A, NM_007130.4:c.264G>A, NM_007130.3:c.264G>A, NM_007130.2:c.264G>A, NM_153380.3:c.264G>A, NM_153380.2:c.264G>A, NM_001324150.2:c.264G>A, NM_001324150.1:c.264G>A, NM_001324152.2:c.6G>A, NM_001324152.1:c.6G>A, NM_001324151.2:c.294G>A, NM_001324151.1:c.294G>A, NM_001324148.2:c.270G>A, NM_001324148.1:c.270G>A, NM_001324144.2:c.264G>A, NM_001324144.1:c.264G>A, NM_001324147.2:c.264G>A, NM_001324147.1:c.264G>A, NM_001324153.2:c.294G>A, NM_001324153.1:c.294G>A, NM_001324142.2:c.270G>A, NM_001324142.1:c.270G>A, NM_001324140.2:c.264G>A, NM_001324140.1:c.264G>A, NM_001324149.2:c.6G>A, NM_001324149.1:c.6G>A, NM_001324143.2:c.6G>A, NM_001324143.1:c.6G>A, NM_001324145.2:c.6G>A, NM_001324145.1:c.6G>A, NM_001324141.2:c.6G>A, NM_001324141.1:c.6G>A, NM_001324139.2:c.6G>A, NM_001324139.1:c.6G>A, NM_001324155.1:c.390G>A, NM_001324154.1:c.366G>A, NM_001324156.1:c.270G>A, NM_001324157.1:c.264G>A, XM_006724550.4:c.366G>A, XM_006724550.3:c.366G>A, XM_006724550.2:c.366G>A, XM_006724550.1:c.366G>A, XM_006724555.4:c.294G>A, XM_006724555.3:c.294G>A, XM_006724555.2:c.294G>A, XM_006724555.1:c.294G>A, XM_017029811.3:c.366G>A, XM_017029811.2:c.366G>A, XM_017029811.1:c.366G>A, XM_017029810.3:c.366G>A, XM_017029810.2:c.366G>A, XM_017029810.1:c.366G>A, XM_017029814.3:c.366G>A, XM_017029814.2:c.366G>A, XM_017029814.1:c.366G>A, XM_017029812.2:c.366G>A, XM_017029812.1:c.366G>A, XM_017029813.2:c.366G>A, XM_017029813.1:c.366G>A, XM_017029815.2:c.366G>A, XM_017029815.1:c.366G>A, XM_017029816.2:c.294G>A, XM_017029816.1:c.294G>A, XM_017029817.2:c.264G>A, XM_017029817.1:c.264G>A, XM_047442475.1:c.270G>A, XM_047442472.1:c.294G>A, XM_047442474.1:c.294G>A, XM_047442476.1:c.270G>A, XM_047442479.1:c.270G>A, XM_047442471.1:c.366G>A, XM_047442473.1:c.294G>A, XM_047442477.1:c.270G>A, XM_047442481.1:c.264G>A, XM_047442478.1:c.270G>A, XM_047442480.1:c.270G>A, XM_047442482.1:c.264G>A, XM_047442483.1:c.6G>A, XM_047442484.1:c.6G>A

                                      19.

                                      rs1447538672 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:47447928 (GRCh38)
                                        X:47307327 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:47447927:C:T
                                        Gene:
                                        ZNF41 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000023.11:g.47447928C>T, NC_000023.10:g.47307327C>T, NG_008238.1:g.40019G>A, NM_007130.4:c.1842G>A, NM_007130.3:c.1842G>A, NM_007130.2:c.1842G>A, NM_153380.3:c.1842G>A, NM_153380.2:c.1842G>A, NM_001324150.2:c.1842G>A, NM_001324150.1:c.1842G>A, NM_001324152.2:c.1584G>A, NM_001324152.1:c.1584G>A, NM_001324151.2:c.1872G>A, NM_001324151.1:c.1872G>A, NM_001324148.2:c.1848G>A, NM_001324148.1:c.1848G>A, NM_001324144.2:c.1842G>A, NM_001324144.1:c.1842G>A, NM_001324147.2:c.1842G>A, NM_001324147.1:c.1842G>A, NM_001324153.2:c.1872G>A, NM_001324153.1:c.1872G>A, NM_001324142.2:c.1848G>A, NM_001324142.1:c.1848G>A, NM_001324140.2:c.1842G>A, NM_001324140.1:c.1842G>A, NM_001324149.2:c.1584G>A, NM_001324149.1:c.1584G>A, NM_001324143.2:c.1584G>A, NM_001324143.1:c.1584G>A, NM_001324145.2:c.1584G>A, NM_001324145.1:c.1584G>A, NM_001324141.2:c.1584G>A, NM_001324141.1:c.1584G>A, NM_001324139.2:c.1584G>A, NM_001324139.1:c.1584G>A, NM_001324155.1:c.1968G>A, NM_001324154.1:c.1944G>A, NM_001324156.1:c.1740G>A, NM_001324157.1:c.1734G>A, XM_006724550.4:c.1944G>A, XM_006724550.3:c.1944G>A, XM_006724550.2:c.1944G>A, XM_006724550.1:c.1944G>A, XM_006724555.4:c.1872G>A, XM_006724555.3:c.1872G>A, XM_006724555.2:c.1872G>A, XM_006724555.1:c.1872G>A, XM_017029811.3:c.1944G>A, XM_017029811.2:c.1944G>A, XM_017029811.1:c.1944G>A, XM_017029810.3:c.1944G>A, XM_017029810.2:c.1944G>A, XM_017029810.1:c.1944G>A, XM_017029814.3:c.1944G>A, XM_017029814.2:c.1944G>A, XM_017029814.1:c.1944G>A, XM_017029812.2:c.1944G>A, XM_017029812.1:c.1944G>A, XM_017029813.2:c.1944G>A, XM_017029813.1:c.1944G>A, XM_017029815.2:c.1944G>A, XM_017029815.1:c.1944G>A, XM_017029816.2:c.1872G>A, XM_017029816.1:c.1872G>A, XM_017029817.2:c.1842G>A, XM_017029817.1:c.1842G>A, XM_047442475.1:c.1848G>A, XM_047442472.1:c.1872G>A, XM_047442474.1:c.1872G>A, XM_047442476.1:c.1848G>A, XM_047442479.1:c.1848G>A, XM_047442471.1:c.1944G>A, XM_047442473.1:c.1872G>A, XM_047442477.1:c.1848G>A, XM_047442481.1:c.1842G>A, XM_047442478.1:c.1848G>A, XM_047442480.1:c.1848G>A, XM_047442482.1:c.1842G>A, XM_047442483.1:c.1584G>A, XM_047442484.1:c.1584G>A

                                        20.

                                        rs1447144152 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          X:47447459 (GRCh38)
                                          X:47306858 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:47447458:C:T
                                          Gene:
                                          ZNF41 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.47447459C>T, NC_000023.10:g.47306858C>T, NG_008238.1:g.40488G>A, NM_007130.4:c.2311G>A, NM_007130.3:c.2311G>A, NM_007130.2:c.2311G>A, NM_153380.3:c.2311G>A, NM_153380.2:c.2311G>A, NM_001324150.2:c.2311G>A, NM_001324150.1:c.2311G>A, NM_001324152.2:c.2053G>A, NM_001324152.1:c.2053G>A, NM_001324151.2:c.2341G>A, NM_001324151.1:c.2341G>A, NM_001324148.2:c.2317G>A, NM_001324148.1:c.2317G>A, NM_001324144.2:c.2311G>A, NM_001324144.1:c.2311G>A, NM_001324147.2:c.2311G>A, NM_001324147.1:c.2311G>A, NM_001324153.2:c.2341G>A, NM_001324153.1:c.2341G>A, NM_001324142.2:c.2317G>A, NM_001324142.1:c.2317G>A, NM_001324140.2:c.2311G>A, NM_001324140.1:c.2311G>A, NM_001324149.2:c.2053G>A, NM_001324149.1:c.2053G>A, NM_001324143.2:c.2053G>A, NM_001324143.1:c.2053G>A, NM_001324145.2:c.2053G>A, NM_001324145.1:c.2053G>A, NM_001324141.2:c.2053G>A, NM_001324141.1:c.2053G>A, NM_001324139.2:c.2053G>A, NM_001324139.1:c.2053G>A, NM_001324155.1:c.2437G>A, NM_001324154.1:c.2413G>A, NM_001324156.1:c.2209G>A, NM_001324157.1:c.2203G>A, XM_006724550.4:c.2413G>A, XM_006724550.3:c.2413G>A, XM_006724550.2:c.2413G>A, XM_006724550.1:c.2413G>A, XM_006724555.4:c.2341G>A, XM_006724555.3:c.2341G>A, XM_006724555.2:c.2341G>A, XM_006724555.1:c.2341G>A, XM_017029811.3:c.2413G>A, XM_017029811.2:c.2413G>A, XM_017029811.1:c.2413G>A, XM_017029810.3:c.2413G>A, XM_017029810.2:c.2413G>A, XM_017029810.1:c.2413G>A, XM_017029814.3:c.2413G>A, XM_017029814.2:c.2413G>A, XM_017029814.1:c.2413G>A, XM_017029812.2:c.2413G>A, XM_017029812.1:c.2413G>A, XM_017029813.2:c.2413G>A, XM_017029813.1:c.2413G>A, XM_017029815.2:c.2413G>A, XM_017029815.1:c.2413G>A, XM_017029816.2:c.2341G>A, XM_017029816.1:c.2341G>A, XM_017029817.2:c.2311G>A, XM_017029817.1:c.2311G>A, XM_047442475.1:c.2317G>A, XM_047442472.1:c.2341G>A, XM_047442474.1:c.2341G>A, XM_047442476.1:c.2317G>A, XM_047442479.1:c.2317G>A, XM_047442471.1:c.2413G>A, XM_047442473.1:c.2341G>A, XM_047442477.1:c.2317G>A, XM_047442481.1:c.2311G>A, XM_047442478.1:c.2317G>A, XM_047442480.1:c.2317G>A, XM_047442482.1:c.2311G>A, XM_047442483.1:c.2053G>A, XM_047442484.1:c.2053G>A, NP_009061.1:p.Gly771Arg, NP_700359.1:p.Gly771Arg, NP_001311079.1:p.Gly771Arg, NP_001311081.1:p.Gly685Arg, NP_001311080.1:p.Gly781Arg, NP_001311077.1:p.Gly773Arg, NP_001311073.1:p.Gly771Arg, NP_001311076.1:p.Gly771Arg, NP_001311082.1:p.Gly781Arg, NP_001311071.1:p.Gly773Arg, NP_001311069.1:p.Gly771Arg, NP_001311078.1:p.Gly685Arg, NP_001311072.1:p.Gly685Arg, NP_001311074.1:p.Gly685Arg, NP_001311070.1:p.Gly685Arg, NP_001311068.1:p.Gly685Arg, NP_001311084.1:p.Gly813Arg, NP_001311083.1:p.Gly805Arg, NP_001311085.1:p.Gly737Arg, NP_001311086.1:p.Gly735Arg, XP_006724613.1:p.Gly805Arg, XP_006724618.1:p.Gly781Arg, XP_016885300.1:p.Gly805Arg, XP_016885299.1:p.Gly805Arg, XP_016885303.1:p.Gly805Arg, XP_016885301.1:p.Gly805Arg, XP_016885302.1:p.Gly805Arg, XP_016885304.1:p.Gly805Arg, XP_016885305.1:p.Gly781Arg, XP_016885306.1:p.Gly771Arg, XP_047298431.1:p.Gly773Arg, XP_047298428.1:p.Gly781Arg, XP_047298430.1:p.Gly781Arg, XP_047298432.1:p.Gly773Arg, XP_047298435.1:p.Gly773Arg, XP_047298427.1:p.Gly805Arg, XP_047298429.1:p.Gly781Arg, XP_047298433.1:p.Gly773Arg, XP_047298437.1:p.Gly771Arg, XP_047298434.1:p.Gly773Arg, XP_047298436.1:p.Gly773Arg, XP_047298438.1:p.Gly771Arg, XP_047298439.1:p.Gly685Arg, XP_047298440.1:p.Gly685Arg

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