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Items: 1 to 20 of 493

1.

rs1490754687 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    14:102208792 (GRCh38)
    14:102675129 (GRCh37)
    Canonical SPDI:
    NC_000014.9:102208791:T:G
    Gene:
    WDR20 (Varview), LOC105370677 (Varview)
    Functional Consequence:
    2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000014.9:g.102208792T>G, NC_000014.8:g.102675129T>G, NM_144574.4:c.622T>G, NM_144574.3:c.622T>G, XM_011537340.4:c.751T>G, XM_011537340.3:c.751T>G, XM_011537340.2:c.751T>G, XM_011537340.1:c.751T>G, XM_011537344.4:c.472T>G, XM_011537344.3:c.472T>G, XM_011537344.2:c.472T>G, XM_011537344.1:c.472T>G, XM_011537336.3:c.751T>G, XM_011537336.2:c.751T>G, XM_011537336.1:c.751T>G, XM_011537335.3:c.751T>G, XM_011537335.2:c.751T>G, XM_011537335.1:c.751T>G, XM_011537337.3:c.751T>G, XM_011537337.2:c.751T>G, XM_011537337.1:c.751T>G, NM_001330228.3:c.715T>G, NM_001330228.2:c.715T>G, NM_001330228.1:c.715T>G, NM_181291.3:c.622T>G, NM_181291.2:c.622T>G, NM_181308.3:c.439T>G, NM_181308.2:c.439T>G, XM_011537339.3:c.751T>G, XM_011537339.2:c.751T>G, XM_011537339.1:c.751T>G, XM_011537341.3:c.658T>G, XM_011537341.2:c.658T>G, XM_011537341.1:c.658T>G, XM_011537345.3:c.250T>G, XM_011537345.2:c.250T>G, XM_011537345.1:c.250T>G, XM_017021785.2:c.715T>G, XM_017021785.1:c.715T>G, NM_001353657.2:c.622T>G, NM_001353657.1:c.622T>G, NM_001353656.2:c.622T>G, NM_001353656.1:c.622T>G, NM_001353667.2:c.103T>G, NM_001353667.1:c.103T>G, NM_001353658.2:c.472T>G, NM_001353658.1:c.472T>G, XM_017021767.2:c.658T>G, XM_017021767.1:c.658T>G, NM_001353662.2:c.103T>G, NM_001353662.1:c.103T>G, NM_001353669.2:c.103T>G, NM_001353669.1:c.103T>G, NM_001353670.2:c.103T>G, NM_001353670.1:c.103T>G, NM_001242417.2:c.715T>G, NM_001242417.1:c.715T>G, NM_001353666.2:c.103T>G, NM_001353666.1:c.103T>G, NM_001353660.2:c.472T>G, NM_001353660.1:c.472T>G, NM_001353663.2:c.103T>G, NM_001353663.1:c.103T>G, NM_001242418.2:c.658T>G, NM_001242418.1:c.658T>G, NM_001353668.2:c.103T>G, NM_001353668.1:c.103T>G, NM_001353661.2:c.229T>G, NM_001353661.1:c.229T>G, NM_001242416.2:c.439T>G, NM_001242416.1:c.439T>G, NM_001353664.2:c.103T>G, NM_001353664.1:c.103T>G, NM_001353673.2:c.103T>G, NM_001353673.1:c.103T>G, NM_001353672.2:c.103T>G, NM_001353672.1:c.103T>G, NM_001353659.2:c.475T>G, NM_001353659.1:c.475T>G, NM_001242414.2:c.*191T>G, NM_001242414.1:c.*191T>G, NM_001353674.2:c.103T>G, NM_001353674.1:c.103T>G, NM_001353665.2:c.103T>G, NM_001353665.1:c.103T>G, XM_006720310.2:c.103T>G, XM_006720310.1:c.103T>G, NM_001353671.2:c.103T>G, NM_001353671.1:c.103T>G, XM_011537343.2:c.565T>G, XM_011537343.1:c.565T>G, XM_024449743.2:c.103T>G, XM_024449743.1:c.103T>G, XM_011537338.2:c.715T>G, XM_011537338.1:c.715T>G, XM_024449742.2:c.103T>G, XM_024449742.1:c.103T>G, XM_011537346.2:c.103T>G, XM_011537346.1:c.103T>G, XM_006720308.2:c.439T>G, XM_006720308.1:c.439T>G, XM_047431924.1:c.658T>G, XM_047431925.1:c.439T>G, XM_047431926.1:c.475T>G, NM_181302.1:c.250T>G, XM_047431927.1:c.313T>G, XM_047431928.1:c.103T>G, NP_653175.2:p.Ser208Ala, XP_011535642.1:p.Ser251Ala, XP_011535646.1:p.Ser158Ala, XP_011535638.1:p.Ser251Ala, XP_011535637.1:p.Ser251Ala, XP_011535639.1:p.Ser251Ala, NP_001317157.1:p.Ser239Ala, NP_851808.1:p.Ser208Ala, NP_851825.1:p.Ser147Ala, XP_011535641.1:p.Ser251Ala, XP_011535643.1:p.Ser220Ala, XP_011535647.1:p.Ser84Ala, XP_016877274.1:p.Ser239Ala, NP_001340586.1:p.Ser208Ala, NP_001340585.1:p.Ser208Ala, NP_001340596.1:p.Ser35Ala, NP_001340587.1:p.Ser158Ala, XP_016877256.1:p.Ser220Ala, NP_001340591.1:p.Ser35Ala, NP_001340598.1:p.Ser35Ala, NP_001340599.1:p.Ser35Ala, NP_001229346.1:p.Ser239Ala, NP_001340595.1:p.Ser35Ala, NP_001340589.1:p.Ser158Ala, NP_001340592.1:p.Ser35Ala, NP_001229347.1:p.Ser220Ala, NP_001340597.1:p.Ser35Ala, NP_001340590.1:p.Ser77Ala, NP_001229345.1:p.Ser147Ala, NP_001340593.1:p.Ser35Ala, NP_001340602.1:p.Ser35Ala, NP_001340601.1:p.Ser35Ala, NP_001340588.1:p.Ser159Ala, NP_001340603.1:p.Ser35Ala, NP_001340594.1:p.Ser35Ala, XP_006720373.1:p.Ser35Ala, NP_001340600.1:p.Ser35Ala, XP_011535645.1:p.Ser189Ala, XP_024305511.1:p.Ser35Ala, XP_011535640.1:p.Ser239Ala, XP_024305510.1:p.Ser35Ala, XP_011535648.1:p.Ser35Ala, XP_006720371.1:p.Ser147Ala, XP_047287880.1:p.Ser220Ala, XP_047287881.1:p.Ser147Ala, XP_047287882.1:p.Ser159Ala, XP_047287883.1:p.Ser105Ala, XP_047287884.1:p.Ser35Ala

    2.

    rs1488663439 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      14:102208630 (GRCh38)
      14:102674967 (GRCh37)
      Canonical SPDI:
      NC_000014.9:102208629:T:C
      Gene:
      WDR20 (Varview), LOC105370677 (Varview)
      Functional Consequence:
      2KB_upstream_variant,5_prime_UTR_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      C=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.102208630T>C, NC_000014.8:g.102674967T>C, NM_144574.4:c.460T>C, NM_144574.3:c.460T>C, XM_011537340.4:c.589T>C, XM_011537340.3:c.589T>C, XM_011537340.2:c.589T>C, XM_011537340.1:c.589T>C, XM_011537344.4:c.310T>C, XM_011537344.3:c.310T>C, XM_011537344.2:c.310T>C, XM_011537344.1:c.310T>C, XM_011537336.3:c.589T>C, XM_011537336.2:c.589T>C, XM_011537336.1:c.589T>C, XM_011537335.3:c.589T>C, XM_011537335.2:c.589T>C, XM_011537335.1:c.589T>C, XM_011537337.3:c.589T>C, XM_011537337.2:c.589T>C, XM_011537337.1:c.589T>C, NM_001330228.3:c.553T>C, NM_001330228.2:c.553T>C, NM_001330228.1:c.553T>C, NM_181291.3:c.460T>C, NM_181291.2:c.460T>C, NM_181308.3:c.277T>C, NM_181308.2:c.277T>C, XM_011537339.3:c.589T>C, XM_011537339.2:c.589T>C, XM_011537339.1:c.589T>C, XM_011537341.3:c.496T>C, XM_011537341.2:c.496T>C, XM_011537341.1:c.496T>C, XM_011537345.3:c.88T>C, XM_011537345.2:c.88T>C, XM_011537345.1:c.88T>C, XM_017021785.2:c.553T>C, XM_017021785.1:c.553T>C, NM_001353657.2:c.460T>C, NM_001353657.1:c.460T>C, NM_001353656.2:c.460T>C, NM_001353656.1:c.460T>C, NM_001353667.2:c.-60T>C, NM_001353667.1:c.-60T>C, NM_001353658.2:c.310T>C, NM_001353658.1:c.310T>C, XM_017021767.2:c.496T>C, XM_017021767.1:c.496T>C, NM_001353662.2:c.-60T>C, NM_001353662.1:c.-60T>C, NM_001353669.2:c.-60T>C, NM_001353669.1:c.-60T>C, NM_001353670.2:c.-60T>C, NM_001353670.1:c.-60T>C, NM_001242417.2:c.553T>C, NM_001242417.1:c.553T>C, NM_001353666.2:c.-60T>C, NM_001353666.1:c.-60T>C, NM_001353660.2:c.310T>C, NM_001353660.1:c.310T>C, NM_001353663.2:c.-60T>C, NM_001353663.1:c.-60T>C, NM_001242418.2:c.496T>C, NM_001242418.1:c.496T>C, NM_001353668.2:c.-60T>C, NM_001353668.1:c.-60T>C, NM_001353661.2:c.67T>C, NM_001353661.1:c.67T>C, NM_001242416.2:c.277T>C, NM_001242416.1:c.277T>C, NM_001353664.2:c.-60T>C, NM_001353664.1:c.-60T>C, NM_001353673.2:c.-60T>C, NM_001353673.1:c.-60T>C, NM_001353672.2:c.-60T>C, NM_001353672.1:c.-60T>C, NM_001353659.2:c.313T>C, NM_001353659.1:c.313T>C, NM_001242414.2:c.*29T>C, NM_001242414.1:c.*29T>C, NM_001353674.2:c.-60T>C, NM_001353674.1:c.-60T>C, NM_001353665.2:c.-60T>C, NM_001353665.1:c.-60T>C, XM_006720310.2:c.-60T>C, XM_006720310.1:c.-60T>C, NM_001353671.2:c.-60T>C, NM_001353671.1:c.-60T>C, XM_011537343.2:c.403T>C, XM_011537343.1:c.403T>C, XM_024449743.2:c.-60T>C, XM_024449743.1:c.-60T>C, XM_011537338.2:c.553T>C, XM_011537338.1:c.553T>C, XM_024449742.2:c.-60T>C, XM_024449742.1:c.-60T>C, XM_011537346.2:c.-60T>C, XM_011537346.1:c.-60T>C, XM_006720308.2:c.277T>C, XM_006720308.1:c.277T>C, XM_047431924.1:c.496T>C, XM_047431925.1:c.277T>C, XM_047431926.1:c.313T>C, NM_181302.1:c.88T>C, XM_047431927.1:c.151T>C, XM_047431928.1:c.-60T>C, NP_653175.2:p.Cys154Arg, XP_011535642.1:p.Cys197Arg, XP_011535646.1:p.Cys104Arg, XP_011535638.1:p.Cys197Arg, XP_011535637.1:p.Cys197Arg, XP_011535639.1:p.Cys197Arg, NP_001317157.1:p.Cys185Arg, NP_851808.1:p.Cys154Arg, NP_851825.1:p.Cys93Arg, XP_011535641.1:p.Cys197Arg, XP_011535643.1:p.Cys166Arg, XP_011535647.1:p.Cys30Arg, XP_016877274.1:p.Cys185Arg, NP_001340586.1:p.Cys154Arg, NP_001340585.1:p.Cys154Arg, NP_001340587.1:p.Cys104Arg, XP_016877256.1:p.Cys166Arg, NP_001229346.1:p.Cys185Arg, NP_001340589.1:p.Cys104Arg, NP_001229347.1:p.Cys166Arg, NP_001340590.1:p.Cys23Arg, NP_001229345.1:p.Cys93Arg, NP_001340588.1:p.Cys105Arg, XP_011535645.1:p.Cys135Arg, XP_011535640.1:p.Cys185Arg, XP_006720371.1:p.Cys93Arg, XP_047287880.1:p.Cys166Arg, XP_047287881.1:p.Cys93Arg, XP_047287882.1:p.Cys105Arg, XP_047287883.1:p.Cys51Arg

      3.

      rs1488405829 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        14:102209179 (GRCh38)
        14:102675516 (GRCh37)
        Canonical SPDI:
        NC_000014.9:102209178:C:A
        Gene:
        WDR20 (Varview), LOC105370677 (Varview)
        Functional Consequence:
        2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.102209179C>A, NC_000014.8:g.102675516C>A, NM_144574.4:c.1009C>A, NM_144574.3:c.1009C>A, XM_011537353.4:c.*303C>A, XM_011537353.3:c.*303C>A, XM_011537353.2:c.*303C>A, XM_011537353.1:c.*303C>A, XM_011537340.4:c.1138C>A, XM_011537340.3:c.1138C>A, XM_011537340.2:c.1138C>A, XM_011537340.1:c.1138C>A, XM_011537344.4:c.859C>A, XM_011537344.3:c.859C>A, XM_011537344.2:c.859C>A, XM_011537344.1:c.859C>A, XM_011537336.3:c.1138C>A, XM_011537336.2:c.1138C>A, XM_011537336.1:c.1138C>A, XM_011537335.3:c.1138C>A, XM_011537335.2:c.1138C>A, XM_011537335.1:c.1138C>A, XM_011537337.3:c.1138C>A, XM_011537337.2:c.1138C>A, XM_011537337.1:c.1138C>A, NM_001330228.3:c.1102C>A, NM_001330228.2:c.1102C>A, NM_001330228.1:c.1102C>A, NM_181291.3:c.1009C>A, NM_181291.2:c.1009C>A, NM_181308.3:c.826C>A, NM_181308.2:c.826C>A, XM_011537339.3:c.1138C>A, XM_011537339.2:c.1138C>A, XM_011537339.1:c.1138C>A, XM_011537341.3:c.1045C>A, XM_011537341.2:c.1045C>A, XM_011537341.1:c.1045C>A, XM_011537345.3:c.637C>A, XM_011537345.2:c.637C>A, XM_011537345.1:c.637C>A, XM_017021785.2:c.1102C>A, XM_017021785.1:c.1102C>A, NM_001353657.2:c.1009C>A, NM_001353657.1:c.1009C>A, NM_001353656.2:c.1009C>A, NM_001353656.1:c.1009C>A, NM_001353667.2:c.490C>A, NM_001353667.1:c.490C>A, NM_001353658.2:c.859C>A, NM_001353658.1:c.859C>A, XM_017021767.2:c.1045C>A, XM_017021767.1:c.1045C>A, NM_001353662.2:c.490C>A, NM_001353662.1:c.490C>A, NM_001353669.2:c.490C>A, NM_001353669.1:c.490C>A, NM_001353670.2:c.490C>A, NM_001353670.1:c.490C>A, NM_001242417.2:c.1102C>A, NM_001242417.1:c.1102C>A, NM_001353666.2:c.490C>A, NM_001353666.1:c.490C>A, NM_001353660.2:c.859C>A, NM_001353660.1:c.859C>A, NM_001353663.2:c.490C>A, NM_001353663.1:c.490C>A, NM_001242418.2:c.1045C>A, NM_001242418.1:c.1045C>A, NM_001353668.2:c.490C>A, NM_001353668.1:c.490C>A, NM_001353661.2:c.616C>A, NM_001353661.1:c.616C>A, NM_001242416.2:c.826C>A, NM_001242416.1:c.826C>A, NM_001353664.2:c.490C>A, NM_001353664.1:c.490C>A, NM_001353673.2:c.490C>A, NM_001353673.1:c.490C>A, NM_001353675.2:c.238C>A, NM_001353675.1:c.238C>A, NM_001353672.2:c.490C>A, NM_001353672.1:c.490C>A, NM_001353659.2:c.862C>A, NM_001353659.1:c.862C>A, NM_001353677.2:c.238C>A, NM_001353677.1:c.238C>A, NM_001242414.2:c.*578C>A, NM_001242414.1:c.*578C>A, NM_001353674.2:c.490C>A, NM_001353674.1:c.490C>A, NM_001353665.2:c.490C>A, NM_001353665.1:c.490C>A, NR_038354.2:n.829C>A, NR_038354.1:n.874C>A, XM_006720310.2:c.490C>A, XM_006720310.1:c.490C>A, NM_001353676.2:c.238C>A, NM_001353676.1:c.238C>A, NM_001353671.2:c.490C>A, NM_001353671.1:c.490C>A, XM_011537343.2:c.952C>A, XM_011537343.1:c.952C>A, NM_001353678.2:c.238C>A, NM_001353678.1:c.238C>A, XM_024449743.2:c.490C>A, XM_024449743.1:c.490C>A, XM_011537338.2:c.1102C>A, XM_011537338.1:c.1102C>A, XM_024449742.2:c.490C>A, XM_024449742.1:c.490C>A, XM_011537346.2:c.490C>A, XM_011537346.1:c.490C>A, XM_006720308.2:c.826C>A, XM_006720308.1:c.826C>A, XM_047431924.1:c.1045C>A, XM_047431925.1:c.826C>A, XM_047431926.1:c.862C>A, NM_181302.1:c.637C>A, XM_047431932.1:c.*303C>A, XM_047431927.1:c.700C>A, XM_047431933.1:c.*303C>A, XM_047431928.1:c.490C>A, NP_653175.2:p.Leu337Ile, XP_011535642.1:p.Leu380Ile, XP_011535646.1:p.Leu287Ile, XP_011535638.1:p.Leu380Ile, XP_011535637.1:p.Leu380Ile, XP_011535639.1:p.Leu380Ile, NP_001317157.1:p.Leu368Ile, NP_851808.1:p.Leu337Ile, NP_851825.1:p.Leu276Ile, XP_011535641.1:p.Leu380Ile, XP_011535643.1:p.Leu349Ile, XP_011535647.1:p.Leu213Ile, XP_016877274.1:p.Leu368Ile, NP_001340586.1:p.Leu337Ile, NP_001340585.1:p.Leu337Ile, NP_001340596.1:p.Leu164Ile, NP_001340587.1:p.Leu287Ile, XP_016877256.1:p.Leu349Ile, NP_001340591.1:p.Leu164Ile, NP_001340598.1:p.Leu164Ile, NP_001340599.1:p.Leu164Ile, NP_001229346.1:p.Leu368Ile, NP_001340595.1:p.Leu164Ile, NP_001340589.1:p.Leu287Ile, NP_001340592.1:p.Leu164Ile, NP_001229347.1:p.Leu349Ile, NP_001340597.1:p.Leu164Ile, NP_001340590.1:p.Leu206Ile, NP_001229345.1:p.Leu276Ile, NP_001340593.1:p.Leu164Ile, NP_001340602.1:p.Leu164Ile, NP_001340604.1:p.Leu80Ile, NP_001340601.1:p.Leu164Ile, NP_001340588.1:p.Leu288Ile, NP_001340606.1:p.Leu80Ile, NP_001340603.1:p.Leu164Ile, NP_001340594.1:p.Leu164Ile, XP_006720373.1:p.Leu164Ile, NP_001340605.1:p.Leu80Ile, NP_001340600.1:p.Leu164Ile, XP_011535645.1:p.Leu318Ile, NP_001340607.1:p.Leu80Ile, XP_024305511.1:p.Leu164Ile, XP_011535640.1:p.Leu368Ile, XP_024305510.1:p.Leu164Ile, XP_011535648.1:p.Leu164Ile, XP_006720371.1:p.Leu276Ile, XP_047287880.1:p.Leu349Ile, XP_047287881.1:p.Leu276Ile, XP_047287882.1:p.Leu288Ile, XP_047287883.1:p.Leu234Ile, XP_047287884.1:p.Leu164Ile

        4.

        rs1487147750 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          14:102209454 (GRCh38)
          14:102675791 (GRCh37)
          Canonical SPDI:
          NC_000014.9:102209453:T:C
          Gene:
          WDR20 (Varview), LOC105370677 (Varview)
          Functional Consequence:
          2KB_upstream_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          NC_000014.9:g.102209454T>C, NC_000014.8:g.102675791T>C, NM_144574.4:c.1284T>C, NM_144574.3:c.1284T>C, XM_011537353.4:c.*578T>C, XM_011537353.3:c.*578T>C, XM_011537353.2:c.*578T>C, XM_011537353.1:c.*578T>C, XM_011537340.4:c.1413T>C, XM_011537340.3:c.1413T>C, XM_011537340.2:c.1413T>C, XM_011537340.1:c.1413T>C, XM_011537344.4:c.1134T>C, XM_011537344.3:c.1134T>C, XM_011537344.2:c.1134T>C, XM_011537344.1:c.1134T>C, XM_011537336.3:c.1413T>C, XM_011537336.2:c.1413T>C, XM_011537336.1:c.1413T>C, XM_011537335.3:c.1413T>C, XM_011537335.2:c.1413T>C, XM_011537335.1:c.1413T>C, XM_011537337.3:c.1413T>C, XM_011537337.2:c.1413T>C, XM_011537337.1:c.1413T>C, NM_001330228.3:c.1377T>C, NM_001330228.2:c.1377T>C, NM_001330228.1:c.1377T>C, NM_181291.3:c.1284T>C, NM_181291.2:c.1284T>C, NM_181308.3:c.1101T>C, NM_181308.2:c.1101T>C, XM_011537339.3:c.1413T>C, XM_011537339.2:c.1413T>C, XM_011537339.1:c.1413T>C, XM_011537341.3:c.1320T>C, XM_011537341.2:c.1320T>C, XM_011537341.1:c.1320T>C, XM_011537345.3:c.912T>C, XM_011537345.2:c.912T>C, XM_011537345.1:c.912T>C, XM_017021785.2:c.1377T>C, XM_017021785.1:c.1377T>C, NM_001353657.2:c.1284T>C, NM_001353657.1:c.1284T>C, NM_001353656.2:c.1284T>C, NM_001353656.1:c.1284T>C, NM_001353667.2:c.765T>C, NM_001353667.1:c.765T>C, NM_001353658.2:c.1134T>C, NM_001353658.1:c.1134T>C, XM_017021767.2:c.1320T>C, XM_017021767.1:c.1320T>C, NM_001353662.2:c.765T>C, NM_001353662.1:c.765T>C, NM_001353669.2:c.765T>C, NM_001353669.1:c.765T>C, NM_001353670.2:c.765T>C, NM_001353670.1:c.765T>C, NM_001242417.2:c.1377T>C, NM_001242417.1:c.1377T>C, NM_001353666.2:c.765T>C, NM_001353666.1:c.765T>C, NM_001353660.2:c.1134T>C, NM_001353660.1:c.1134T>C, NM_001353663.2:c.765T>C, NM_001353663.1:c.765T>C, NM_001242418.2:c.1320T>C, NM_001242418.1:c.1320T>C, NM_001353668.2:c.765T>C, NM_001353668.1:c.765T>C, NM_001353661.2:c.891T>C, NM_001353661.1:c.891T>C, NM_001242416.2:c.1101T>C, NM_001242416.1:c.1101T>C, NM_001353664.2:c.765T>C, NM_001353664.1:c.765T>C, NM_001353673.2:c.765T>C, NM_001353673.1:c.765T>C, NM_001353675.2:c.513T>C, NM_001353675.1:c.513T>C, NM_001353672.2:c.765T>C, NM_001353672.1:c.765T>C, NM_001353659.2:c.1137T>C, NM_001353659.1:c.1137T>C, NM_001353677.2:c.513T>C, NM_001353677.1:c.513T>C, NM_001242414.2:c.*853T>C, NM_001242414.1:c.*853T>C, NM_001353674.2:c.765T>C, NM_001353674.1:c.765T>C, NM_001353665.2:c.765T>C, NM_001353665.1:c.765T>C, NR_038354.2:n.1104T>C, NR_038354.1:n.1149T>C, XM_006720310.2:c.765T>C, XM_006720310.1:c.765T>C, NM_001353676.2:c.513T>C, NM_001353676.1:c.513T>C, NM_001353671.2:c.765T>C, NM_001353671.1:c.765T>C, XM_011537343.2:c.1227T>C, XM_011537343.1:c.1227T>C, NM_001353678.2:c.513T>C, NM_001353678.1:c.513T>C, XM_024449743.2:c.765T>C, XM_024449743.1:c.765T>C, XM_011537338.2:c.1377T>C, XM_011537338.1:c.1377T>C, XM_024449742.2:c.765T>C, XM_024449742.1:c.765T>C, XM_011537346.2:c.765T>C, XM_011537346.1:c.765T>C, XM_006720308.2:c.1101T>C, XM_006720308.1:c.1101T>C, XM_047431924.1:c.1320T>C, XM_047431925.1:c.1101T>C, XM_047431926.1:c.1137T>C, NM_181302.1:c.912T>C, XM_047431932.1:c.*578T>C, XM_047431927.1:c.975T>C, XM_047431933.1:c.*578T>C, XM_047431928.1:c.765T>C

          5.

          rs1485820782 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:102140012 (GRCh38)
            14:102606349 (GRCh37)
            Canonical SPDI:
            NC_000014.9:102140011:C:T
            Gene:
            HSP90AA1 (Varview), WDR20 (Varview)
            Functional Consequence:
            2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000014.9:g.102140012C>T, NC_000014.8:g.102606349C>T, NM_144574.4:c.89C>T, NM_144574.3:c.89C>T, XM_011537353.4:c.89C>T, XM_011537353.3:c.89C>T, XM_011537353.2:c.89C>T, XM_011537353.1:c.89C>T, XM_011537340.4:c.89C>T, XM_011537340.3:c.89C>T, XM_011537340.2:c.89C>T, XM_011537340.1:c.89C>T, XM_011537344.4:c.-114C>T, XM_011537344.3:c.-114C>T, XM_011537344.2:c.-114C>T, XM_011537344.1:c.-114C>T, XM_011537352.4:c.89C>T, XM_011537352.3:c.89C>T, XM_011537352.2:c.89C>T, XM_011537352.1:c.89C>T, XM_011537356.4:c.89C>T, XM_011537356.3:c.89C>T, XM_011537356.2:c.89C>T, XM_011537356.1:c.89C>T, XM_011537336.3:c.89C>T, XM_011537336.2:c.89C>T, XM_011537336.1:c.89C>T, XM_011537335.3:c.89C>T, XM_011537335.2:c.89C>T, XM_011537335.1:c.89C>T, XM_011537337.3:c.89C>T, XM_011537337.2:c.89C>T, XM_011537337.1:c.89C>T, NM_001330228.3:c.89C>T, NM_001330228.2:c.89C>T, NM_001330228.1:c.89C>T, NM_181291.3:c.89C>T, NM_181291.2:c.89C>T, NM_181308.3:c.89C>T, NM_181308.2:c.89C>T, XM_011537339.3:c.89C>T, XM_011537339.2:c.89C>T, XM_011537339.1:c.89C>T, XM_011537341.3:c.89C>T, XM_011537341.2:c.89C>T, XM_011537341.1:c.89C>T, XM_011537345.3:c.-114C>T, XM_011537345.2:c.-114C>T, XM_011537345.1:c.-114C>T, XM_017021785.2:c.89C>T, XM_017021785.1:c.89C>T, NM_001353657.2:c.89C>T, NM_001353657.1:c.89C>T, NM_001242415.2:c.89C>T, NM_001242415.1:c.89C>T, NM_001353656.2:c.89C>T, NM_001353656.1:c.89C>T, NM_001353658.2:c.-114C>T, NM_001353658.1:c.-114C>T, XM_017021767.2:c.89C>T, XM_017021767.1:c.89C>T, NM_001242417.2:c.89C>T, NM_001242417.1:c.89C>T, NM_001353660.2:c.-114C>T, NM_001353660.1:c.-114C>T, NM_001242418.2:c.89C>T, NM_001242418.1:c.89C>T, NM_001353661.2:c.-336C>T, NM_001353661.1:c.-336C>T, NM_001242416.2:c.89C>T, NM_001242416.1:c.89C>T, NM_001353675.2:c.-424C>T, NM_001353675.1:c.-424C>T, NM_001353659.2:c.89C>T, NM_001353659.1:c.89C>T, NM_001353677.2:c.-517C>T, NM_001353677.1:c.-517C>T, NM_001242414.2:c.89C>T, NM_001242414.1:c.89C>T, NR_038354.2:n.116C>T, NR_038354.1:n.161C>T, NM_001353676.2:c.-424C>T, NM_001353676.1:c.-424C>T, XM_011537343.2:c.-114C>T, XM_011537343.1:c.-114C>T, XM_011537338.2:c.89C>T, XM_011537338.1:c.89C>T, XM_006720308.2:c.89C>T, XM_006720308.1:c.89C>T, NM_001353679.2:c.89C>T, NM_001353679.1:c.89C>T, NM_001320130.2:c.89C>T, NM_001320130.1:c.89C>T, NM_001353681.2:c.89C>T, NM_001353681.1:c.89C>T, NM_001353680.2:c.89C>T, NM_001353680.1:c.89C>T, XM_047431930.1:c.89C>T, XM_047431924.1:c.89C>T, XM_047431925.1:c.89C>T, NM_181302.1:c.-114C>T, XM_047431932.1:c.89C>T, XM_047431933.1:c.89C>T, XM_047431929.1:c.89C>T, XM_047431931.1:c.89C>T, NP_653175.2:p.Ser30Leu, XP_011535655.1:p.Ser30Leu, XP_011535642.1:p.Ser30Leu, XP_011535654.1:p.Ser30Leu, XP_011535658.1:p.Ser30Leu, XP_011535638.1:p.Ser30Leu, XP_011535637.1:p.Ser30Leu, XP_011535639.1:p.Ser30Leu, NP_001317157.1:p.Ser30Leu, NP_851808.1:p.Ser30Leu, NP_851825.1:p.Ser30Leu, XP_011535641.1:p.Ser30Leu, XP_011535643.1:p.Ser30Leu, XP_016877274.1:p.Ser30Leu, NP_001340586.1:p.Ser30Leu, NP_001229344.1:p.Ser30Leu, NP_001340585.1:p.Ser30Leu, XP_016877256.1:p.Ser30Leu, NP_001229346.1:p.Ser30Leu, NP_001229347.1:p.Ser30Leu, NP_001229345.1:p.Ser30Leu, NP_001340588.1:p.Ser30Leu, NP_001229343.1:p.Ser30Leu, XP_011535640.1:p.Ser30Leu, XP_006720371.1:p.Ser30Leu, NP_001340608.1:p.Ser30Leu, NP_001307059.1:p.Ser30Leu, NP_001340610.1:p.Ser30Leu, NP_001340609.1:p.Ser30Leu, XP_047287886.1:p.Ser30Leu, XP_047287880.1:p.Ser30Leu, XP_047287881.1:p.Ser30Leu, XP_047287888.1:p.Ser30Leu, XP_047287889.1:p.Ser30Leu, XP_047287885.1:p.Ser30Leu, XP_047287887.1:p.Ser30Leu

            6.

            rs1485482757 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              14:102209247 (GRCh38)
              14:102675584 (GRCh37)
              Canonical SPDI:
              NC_000014.9:102209246:C:T
              Gene:
              WDR20 (Varview), LOC105370677 (Varview)
              Functional Consequence:
              2KB_upstream_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000021/3 (GnomAD)
              HGVS:
              NC_000014.9:g.102209247C>T, NC_000014.8:g.102675584C>T, NM_144574.4:c.1077C>T, NM_144574.3:c.1077C>T, XM_011537353.4:c.*371C>T, XM_011537353.3:c.*371C>T, XM_011537353.2:c.*371C>T, XM_011537353.1:c.*371C>T, XM_011537340.4:c.1206C>T, XM_011537340.3:c.1206C>T, XM_011537340.2:c.1206C>T, XM_011537340.1:c.1206C>T, XM_011537344.4:c.927C>T, XM_011537344.3:c.927C>T, XM_011537344.2:c.927C>T, XM_011537344.1:c.927C>T, XM_011537336.3:c.1206C>T, XM_011537336.2:c.1206C>T, XM_011537336.1:c.1206C>T, XM_011537335.3:c.1206C>T, XM_011537335.2:c.1206C>T, XM_011537335.1:c.1206C>T, XM_011537337.3:c.1206C>T, XM_011537337.2:c.1206C>T, XM_011537337.1:c.1206C>T, NM_001330228.3:c.1170C>T, NM_001330228.2:c.1170C>T, NM_001330228.1:c.1170C>T, NM_181291.3:c.1077C>T, NM_181291.2:c.1077C>T, NM_181308.3:c.894C>T, NM_181308.2:c.894C>T, XM_011537339.3:c.1206C>T, XM_011537339.2:c.1206C>T, XM_011537339.1:c.1206C>T, XM_011537341.3:c.1113C>T, XM_011537341.2:c.1113C>T, XM_011537341.1:c.1113C>T, XM_011537345.3:c.705C>T, XM_011537345.2:c.705C>T, XM_011537345.1:c.705C>T, XM_017021785.2:c.1170C>T, XM_017021785.1:c.1170C>T, NM_001353657.2:c.1077C>T, NM_001353657.1:c.1077C>T, NM_001353656.2:c.1077C>T, NM_001353656.1:c.1077C>T, NM_001353667.2:c.558C>T, NM_001353667.1:c.558C>T, NM_001353658.2:c.927C>T, NM_001353658.1:c.927C>T, XM_017021767.2:c.1113C>T, XM_017021767.1:c.1113C>T, NM_001353662.2:c.558C>T, NM_001353662.1:c.558C>T, NM_001353669.2:c.558C>T, NM_001353669.1:c.558C>T, NM_001353670.2:c.558C>T, NM_001353670.1:c.558C>T, NM_001242417.2:c.1170C>T, NM_001242417.1:c.1170C>T, NM_001353666.2:c.558C>T, NM_001353666.1:c.558C>T, NM_001353660.2:c.927C>T, NM_001353660.1:c.927C>T, NM_001353663.2:c.558C>T, NM_001353663.1:c.558C>T, NM_001242418.2:c.1113C>T, NM_001242418.1:c.1113C>T, NM_001353668.2:c.558C>T, NM_001353668.1:c.558C>T, NM_001353661.2:c.684C>T, NM_001353661.1:c.684C>T, NM_001242416.2:c.894C>T, NM_001242416.1:c.894C>T, NM_001353664.2:c.558C>T, NM_001353664.1:c.558C>T, NM_001353673.2:c.558C>T, NM_001353673.1:c.558C>T, NM_001353675.2:c.306C>T, NM_001353675.1:c.306C>T, NM_001353672.2:c.558C>T, NM_001353672.1:c.558C>T, NM_001353659.2:c.930C>T, NM_001353659.1:c.930C>T, NM_001353677.2:c.306C>T, NM_001353677.1:c.306C>T, NM_001242414.2:c.*646C>T, NM_001242414.1:c.*646C>T, NM_001353674.2:c.558C>T, NM_001353674.1:c.558C>T, NM_001353665.2:c.558C>T, NM_001353665.1:c.558C>T, NR_038354.2:n.897C>T, NR_038354.1:n.942C>T, XM_006720310.2:c.558C>T, XM_006720310.1:c.558C>T, NM_001353676.2:c.306C>T, NM_001353676.1:c.306C>T, NM_001353671.2:c.558C>T, NM_001353671.1:c.558C>T, XM_011537343.2:c.1020C>T, XM_011537343.1:c.1020C>T, NM_001353678.2:c.306C>T, NM_001353678.1:c.306C>T, XM_024449743.2:c.558C>T, XM_024449743.1:c.558C>T, XM_011537338.2:c.1170C>T, XM_011537338.1:c.1170C>T, XM_024449742.2:c.558C>T, XM_024449742.1:c.558C>T, XM_011537346.2:c.558C>T, XM_011537346.1:c.558C>T, XM_006720308.2:c.894C>T, XM_006720308.1:c.894C>T, XM_047431924.1:c.1113C>T, XM_047431925.1:c.894C>T, XM_047431926.1:c.930C>T, NM_181302.1:c.705C>T, XM_047431932.1:c.*371C>T, XM_047431927.1:c.768C>T, XM_047431933.1:c.*371C>T, XM_047431928.1:c.558C>T

              7.

              rs1483238870 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:102208902 (GRCh38)
                14:102675239 (GRCh37)
                Canonical SPDI:
                NC_000014.9:102208901:G:A
                Gene:
                WDR20 (Varview), LOC105370677 (Varview)
                Functional Consequence:
                2KB_upstream_variant,5_prime_UTR_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000014.9:g.102208902G>A, NC_000014.8:g.102675239G>A, NM_144574.4:c.732G>A, NM_144574.3:c.732G>A, XM_011537353.4:c.*26G>A, XM_011537353.3:c.*26G>A, XM_011537353.2:c.*26G>A, XM_011537353.1:c.*26G>A, XM_011537340.4:c.861G>A, XM_011537340.3:c.861G>A, XM_011537340.2:c.861G>A, XM_011537340.1:c.861G>A, XM_011537344.4:c.582G>A, XM_011537344.3:c.582G>A, XM_011537344.2:c.582G>A, XM_011537344.1:c.582G>A, XM_011537336.3:c.861G>A, XM_011537336.2:c.861G>A, XM_011537336.1:c.861G>A, XM_011537335.3:c.861G>A, XM_011537335.2:c.861G>A, XM_011537335.1:c.861G>A, XM_011537337.3:c.861G>A, XM_011537337.2:c.861G>A, XM_011537337.1:c.861G>A, NM_001330228.3:c.825G>A, NM_001330228.2:c.825G>A, NM_001330228.1:c.825G>A, NM_181291.3:c.732G>A, NM_181291.2:c.732G>A, NM_181308.3:c.549G>A, NM_181308.2:c.549G>A, XM_011537339.3:c.861G>A, XM_011537339.2:c.861G>A, XM_011537339.1:c.861G>A, XM_011537341.3:c.768G>A, XM_011537341.2:c.768G>A, XM_011537341.1:c.768G>A, XM_011537345.3:c.360G>A, XM_011537345.2:c.360G>A, XM_011537345.1:c.360G>A, XM_017021785.2:c.825G>A, XM_017021785.1:c.825G>A, NM_001353657.2:c.732G>A, NM_001353657.1:c.732G>A, NM_001353656.2:c.732G>A, NM_001353656.1:c.732G>A, NM_001353667.2:c.213G>A, NM_001353667.1:c.213G>A, NM_001353658.2:c.582G>A, NM_001353658.1:c.582G>A, XM_017021767.2:c.768G>A, XM_017021767.1:c.768G>A, NM_001353662.2:c.213G>A, NM_001353662.1:c.213G>A, NM_001353669.2:c.213G>A, NM_001353669.1:c.213G>A, NM_001353670.2:c.213G>A, NM_001353670.1:c.213G>A, NM_001242417.2:c.825G>A, NM_001242417.1:c.825G>A, NM_001353666.2:c.213G>A, NM_001353666.1:c.213G>A, NM_001353660.2:c.582G>A, NM_001353660.1:c.582G>A, NM_001353663.2:c.213G>A, NM_001353663.1:c.213G>A, NM_001242418.2:c.768G>A, NM_001242418.1:c.768G>A, NM_001353668.2:c.213G>A, NM_001353668.1:c.213G>A, NM_001353661.2:c.339G>A, NM_001353661.1:c.339G>A, NM_001242416.2:c.549G>A, NM_001242416.1:c.549G>A, NM_001353664.2:c.213G>A, NM_001353664.1:c.213G>A, NM_001353673.2:c.213G>A, NM_001353673.1:c.213G>A, NM_001353675.2:c.-40G>A, NM_001353675.1:c.-40G>A, NM_001353672.2:c.213G>A, NM_001353672.1:c.213G>A, NM_001353659.2:c.585G>A, NM_001353659.1:c.585G>A, NM_001353677.2:c.-40G>A, NM_001353677.1:c.-40G>A, NM_001242414.2:c.*301G>A, NM_001242414.1:c.*301G>A, NM_001353674.2:c.213G>A, NM_001353674.1:c.213G>A, NM_001353665.2:c.213G>A, NM_001353665.1:c.213G>A, NR_038354.2:n.552G>A, NR_038354.1:n.597G>A, XM_006720310.2:c.213G>A, XM_006720310.1:c.213G>A, NM_001353676.2:c.-40G>A, NM_001353676.1:c.-40G>A, NM_001353671.2:c.213G>A, NM_001353671.1:c.213G>A, XM_011537343.2:c.675G>A, XM_011537343.1:c.675G>A, NM_001353678.2:c.-40G>A, NM_001353678.1:c.-40G>A, XM_024449743.2:c.213G>A, XM_024449743.1:c.213G>A, XM_011537338.2:c.825G>A, XM_011537338.1:c.825G>A, XM_024449742.2:c.213G>A, XM_024449742.1:c.213G>A, XM_011537346.2:c.213G>A, XM_011537346.1:c.213G>A, XM_006720308.2:c.549G>A, XM_006720308.1:c.549G>A, XM_047431924.1:c.768G>A, XM_047431925.1:c.549G>A, XM_047431926.1:c.585G>A, NM_181302.1:c.360G>A, XM_047431932.1:c.*26G>A, XM_047431927.1:c.423G>A, XM_047431933.1:c.*26G>A, XM_047431928.1:c.213G>A

                8.

                rs1482432815 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:102195003 (GRCh38)
                  14:102661340 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:102195002:C:T
                  Gene:
                  WDR20 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000014.9:g.102195003C>T, NC_000014.8:g.102661340C>T, NM_144574.4:c.315C>T, NM_144574.3:c.315C>T, XM_011537353.4:c.351C>T, XM_011537353.3:c.351C>T, XM_011537353.2:c.351C>T, XM_011537353.1:c.351C>T, XM_011537340.4:c.351C>T, XM_011537340.3:c.351C>T, XM_011537340.2:c.351C>T, XM_011537340.1:c.351C>T, XM_011537344.4:c.165C>T, XM_011537344.3:c.165C>T, XM_011537344.2:c.165C>T, XM_011537344.1:c.165C>T, XM_011537352.4:c.351C>T, XM_011537352.3:c.351C>T, XM_011537352.2:c.351C>T, XM_011537352.1:c.351C>T, XM_011537356.4:c.351C>T, XM_011537356.3:c.351C>T, XM_011537356.2:c.351C>T, XM_011537356.1:c.351C>T, XM_011537336.3:c.351C>T, XM_011537336.2:c.351C>T, XM_011537336.1:c.351C>T, XM_011537335.3:c.351C>T, XM_011537335.2:c.351C>T, XM_011537335.1:c.351C>T, XM_011537337.3:c.351C>T, XM_011537337.2:c.351C>T, XM_011537337.1:c.351C>T, NM_001330228.3:c.315C>T, NM_001330228.2:c.315C>T, NM_001330228.1:c.315C>T, NM_181291.3:c.315C>T, NM_181291.2:c.315C>T, XM_011537339.3:c.351C>T, XM_011537339.2:c.351C>T, XM_011537339.1:c.351C>T, XM_011537341.3:c.351C>T, XM_011537341.2:c.351C>T, XM_011537341.1:c.351C>T, XM_017021785.2:c.315C>T, XM_017021785.1:c.315C>T, NM_001353657.2:c.315C>T, NM_001353657.1:c.315C>T, NM_001242415.2:c.315C>T, NM_001242415.1:c.315C>T, NM_001353656.2:c.315C>T, NM_001353656.1:c.315C>T, NM_001353667.2:c.-298C>T, NM_001353667.1:c.-298C>T, NM_001353658.2:c.165C>T, NM_001353658.1:c.165C>T, XM_017021767.2:c.351C>T, XM_017021767.1:c.351C>T, NM_001353662.2:c.-205C>T, NM_001353662.1:c.-205C>T, NM_001353669.2:c.-205C>T, NM_001353669.1:c.-205C>T, NM_001353670.2:c.-298C>T, NM_001353670.1:c.-298C>T, NM_001242417.2:c.315C>T, NM_001242417.1:c.315C>T, NM_001353666.2:c.-298C>T, NM_001353666.1:c.-298C>T, NM_001353660.2:c.165C>T, NM_001353660.1:c.165C>T, NM_001353663.2:c.-205C>T, NM_001353663.1:c.-205C>T, NM_001242418.2:c.351C>T, NM_001242418.1:c.351C>T, NM_001353668.2:c.-205C>T, NM_001353668.1:c.-205C>T, NM_001353661.2:c.-110C>T, NM_001353661.1:c.-110C>T, NM_001353664.2:c.-205C>T, NM_001353664.1:c.-205C>T, NM_001353673.2:c.-298C>T, NM_001353673.1:c.-298C>T, NM_001353675.2:c.-198C>T, NM_001353675.1:c.-198C>T, NM_001353672.2:c.-298C>T, NM_001353672.1:c.-298C>T, NM_001353677.2:c.-291C>T, NM_001353677.1:c.-291C>T, NM_001353674.2:c.-205C>T, NM_001353674.1:c.-205C>T, NR_038354.2:n.394C>T, NR_038354.1:n.439C>T, XM_006720310.2:c.-205C>T, XM_006720310.1:c.-205C>T, NM_001353676.2:c.-198C>T, NM_001353676.1:c.-198C>T, XM_011537343.2:c.165C>T, XM_011537343.1:c.165C>T, NM_001353678.2:c.-198C>T, NM_001353678.1:c.-198C>T, XM_024449743.2:c.-298C>T, XM_024449743.1:c.-298C>T, XM_011537338.2:c.315C>T, XM_011537338.1:c.315C>T, XM_024449742.2:c.-205C>T, XM_024449742.1:c.-205C>T, XM_011537346.2:c.-205C>T, XM_011537346.1:c.-205C>T, NM_001353679.2:c.315C>T, NM_001353679.1:c.315C>T, NM_001320130.2:c.315C>T, NM_001320130.1:c.315C>T, NR_148510.2:n.157C>T, NR_148510.1:n.202C>T, XM_047431930.1:c.351C>T, XM_047431924.1:c.351C>T, XM_047431926.1:c.168C>T, XM_047431932.1:c.315C>T, XM_047431933.1:c.315C>T, XM_047431929.1:c.351C>T, XM_047431931.1:c.351C>T

                  9.

                  rs1478505020 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    14:102222875 (GRCh38)
                    14:102689212 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:102222874:G:T
                    Gene:
                    MOK (Varview), WDR20 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000014.9:g.102222875G>T, NC_000014.8:g.102689212G>T, XM_011537352.4:c.607G>T, XM_011537352.3:c.607G>T, XM_011537352.2:c.607G>T, XM_011537352.1:c.607G>T, XM_011537356.4:c.514G>T, XM_011537356.3:c.514G>T, XM_011537356.2:c.514G>T, XM_011537356.1:c.514G>T, XM_011537335.3:c.*64G>T, XM_011537335.2:c.*64G>T, XM_011537335.1:c.*64G>T, XM_011537337.3:c.1867G>T, XM_011537337.2:c.1867G>T, XM_011537337.1:c.1867G>T, NM_001330228.3:c.1831G>T, NM_001330228.2:c.1831G>T, NM_001330228.1:c.1831G>T, NM_181291.3:c.1738G>T, NM_181291.2:c.1738G>T, NM_001353656.2:c.*64G>T, NM_001353656.1:c.*64G>T, NM_001353667.2:c.*64G>T, NM_001353667.1:c.*64G>T, NM_001353658.2:c.1588G>T, NM_001353658.1:c.1588G>T, XM_017021767.2:c.1774G>T, XM_017021767.1:c.1774G>T, NM_001353662.2:c.1219G>T, NM_001353662.1:c.1219G>T, NM_001353666.2:c.1219G>T, NM_001353666.1:c.1219G>T, NM_001353663.2:c.1219G>T, NM_001353663.1:c.1219G>T, NM_001242416.2:c.1555G>T, NM_001242416.1:c.1555G>T, NM_001353664.2:c.1219G>T, NM_001353664.1:c.1219G>T, NM_001353675.2:c.967G>T, NM_001353675.1:c.967G>T, NM_001353665.2:c.1219G>T, NM_001353665.1:c.1219G>T, NM_001353679.2:c.*64G>T, NM_001353679.1:c.*64G>T, NM_001320130.2:c.478G>T, NM_001320130.1:c.478G>T, NR_148510.2:n.422G>T, NR_148510.1:n.467G>T, NM_001353681.2:c.*47G>T, NM_001353681.1:c.*47G>T, NM_001353680.2:c.295G>T, NM_001353680.1:c.295G>T, NR_148511.2:n.239G>T, NR_148511.1:n.284G>T, XR_007064039.1:n.1733C>A, XR_007064040.1:n.1618C>A, XR_007064041.1:n.1615C>A, XP_011535654.1:p.Val203Leu, XP_011535658.1:p.Val172Leu, XP_011535639.1:p.Val623Leu, NP_001317157.1:p.Val611Leu, NP_851808.1:p.Val580Leu, NP_001340587.1:p.Val530Leu, XP_016877256.1:p.Val592Leu, NP_001340591.1:p.Val407Leu, NP_001340595.1:p.Val407Leu, NP_001340592.1:p.Val407Leu, NP_001229345.1:p.Val519Leu, NP_001340593.1:p.Val407Leu, NP_001340604.1:p.Val323Leu, NP_001340594.1:p.Val407Leu, NP_001307059.1:p.Val160Leu, NP_001340609.1:p.Val99Leu

                    10.

                    rs1478411037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      14:102140101 (GRCh38)
                      14:102606438 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:102140100:G:C
                      Gene:
                      HSP90AA1 (Varview), WDR20 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000014.9:g.102140101G>C, NC_000014.8:g.102606438G>C, NM_144574.4:c.178G>C, NM_144574.3:c.178G>C, XM_011537353.4:c.178G>C, XM_011537353.3:c.178G>C, XM_011537353.2:c.178G>C, XM_011537353.1:c.178G>C, XM_011537340.4:c.178G>C, XM_011537340.3:c.178G>C, XM_011537340.2:c.178G>C, XM_011537340.1:c.178G>C, XM_011537344.4:c.-25G>C, XM_011537344.3:c.-25G>C, XM_011537344.2:c.-25G>C, XM_011537344.1:c.-25G>C, XM_011537352.4:c.178G>C, XM_011537352.3:c.178G>C, XM_011537352.2:c.178G>C, XM_011537352.1:c.178G>C, XM_011537356.4:c.178G>C, XM_011537356.3:c.178G>C, XM_011537356.2:c.178G>C, XM_011537356.1:c.178G>C, XM_011537336.3:c.178G>C, XM_011537336.2:c.178G>C, XM_011537336.1:c.178G>C, XM_011537335.3:c.178G>C, XM_011537335.2:c.178G>C, XM_011537335.1:c.178G>C, XM_011537337.3:c.178G>C, XM_011537337.2:c.178G>C, XM_011537337.1:c.178G>C, NM_001330228.3:c.178G>C, NM_001330228.2:c.178G>C, NM_001330228.1:c.178G>C, NM_181291.3:c.178G>C, NM_181291.2:c.178G>C, NM_181308.3:c.178G>C, NM_181308.2:c.178G>C, XM_011537339.3:c.178G>C, XM_011537339.2:c.178G>C, XM_011537339.1:c.178G>C, XM_011537341.3:c.178G>C, XM_011537341.2:c.178G>C, XM_011537341.1:c.178G>C, XM_011537345.3:c.-25G>C, XM_011537345.2:c.-25G>C, XM_011537345.1:c.-25G>C, XM_017021785.2:c.178G>C, XM_017021785.1:c.178G>C, NM_001353657.2:c.178G>C, NM_001353657.1:c.178G>C, NM_001242415.2:c.178G>C, NM_001242415.1:c.178G>C, NM_001353656.2:c.178G>C, NM_001353656.1:c.178G>C, NM_001353658.2:c.-25G>C, NM_001353658.1:c.-25G>C, XM_017021767.2:c.178G>C, XM_017021767.1:c.178G>C, NM_001353669.2:c.-342G>C, NM_001353669.1:c.-342G>C, NM_001242417.2:c.178G>C, NM_001242417.1:c.178G>C, NM_001353660.2:c.-25G>C, NM_001353660.1:c.-25G>C, NM_001242418.2:c.178G>C, NM_001242418.1:c.178G>C, NM_001353661.2:c.-247G>C, NM_001353661.1:c.-247G>C, NM_001242416.2:c.178G>C, NM_001242416.1:c.178G>C, NM_001353675.2:c.-335G>C, NM_001353675.1:c.-335G>C, NM_001353659.2:c.178G>C, NM_001353659.1:c.178G>C, NM_001353677.2:c.-428G>C, NM_001353677.1:c.-428G>C, NM_001242414.2:c.178G>C, NM_001242414.1:c.178G>C, NR_038354.2:n.205G>C, NR_038354.1:n.250G>C, NM_001353676.2:c.-335G>C, NM_001353676.1:c.-335G>C, XM_011537343.2:c.-25G>C, XM_011537343.1:c.-25G>C, XM_011537338.2:c.178G>C, XM_011537338.1:c.178G>C, XM_006720308.2:c.178G>C, XM_006720308.1:c.178G>C, NM_001353679.2:c.178G>C, NM_001353679.1:c.178G>C, NM_001320130.2:c.178G>C, NM_001320130.1:c.178G>C, NM_001353681.2:c.178G>C, NM_001353681.1:c.178G>C, NM_001353680.2:c.178G>C, NM_001353680.1:c.178G>C, XM_047431930.1:c.178G>C, XM_047431924.1:c.178G>C, XM_047431925.1:c.178G>C, NM_181302.1:c.-25G>C, XM_047431932.1:c.178G>C, XM_047431933.1:c.178G>C, XM_047431929.1:c.178G>C, XM_047431931.1:c.178G>C, NP_653175.2:p.Gly60Arg, XP_011535655.1:p.Gly60Arg, XP_011535642.1:p.Gly60Arg, XP_011535654.1:p.Gly60Arg, XP_011535658.1:p.Gly60Arg, XP_011535638.1:p.Gly60Arg, XP_011535637.1:p.Gly60Arg, XP_011535639.1:p.Gly60Arg, NP_001317157.1:p.Gly60Arg, NP_851808.1:p.Gly60Arg, NP_851825.1:p.Gly60Arg, XP_011535641.1:p.Gly60Arg, XP_011535643.1:p.Gly60Arg, XP_016877274.1:p.Gly60Arg, NP_001340586.1:p.Gly60Arg, NP_001229344.1:p.Gly60Arg, NP_001340585.1:p.Gly60Arg, XP_016877256.1:p.Gly60Arg, NP_001229346.1:p.Gly60Arg, NP_001229347.1:p.Gly60Arg, NP_001229345.1:p.Gly60Arg, NP_001340588.1:p.Gly60Arg, NP_001229343.1:p.Gly60Arg, XP_011535640.1:p.Gly60Arg, XP_006720371.1:p.Gly60Arg, NP_001340608.1:p.Gly60Arg, NP_001307059.1:p.Gly60Arg, NP_001340610.1:p.Gly60Arg, NP_001340609.1:p.Gly60Arg, XP_047287886.1:p.Gly60Arg, XP_047287880.1:p.Gly60Arg, XP_047287881.1:p.Gly60Arg, XP_047287888.1:p.Gly60Arg, XP_047287889.1:p.Gly60Arg, XP_047287885.1:p.Gly60Arg, XP_047287887.1:p.Gly60Arg

                      11.

                      rs1474631918 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        14:102195077 (GRCh38)
                        14:102661414 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:102195076:T:C
                        Gene:
                        WDR20 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.102195077T>C, NC_000014.8:g.102661414T>C, NM_144574.4:c.389T>C, NM_144574.3:c.389T>C, XM_011537353.4:c.425T>C, XM_011537353.3:c.425T>C, XM_011537353.2:c.425T>C, XM_011537353.1:c.425T>C, XM_011537340.4:c.425T>C, XM_011537340.3:c.425T>C, XM_011537340.2:c.425T>C, XM_011537340.1:c.425T>C, XM_011537344.4:c.239T>C, XM_011537344.3:c.239T>C, XM_011537344.2:c.239T>C, XM_011537344.1:c.239T>C, XM_011537352.4:c.425T>C, XM_011537352.3:c.425T>C, XM_011537352.2:c.425T>C, XM_011537352.1:c.425T>C, XM_011537356.4:c.425T>C, XM_011537356.3:c.425T>C, XM_011537356.2:c.425T>C, XM_011537356.1:c.425T>C, XM_011537336.3:c.425T>C, XM_011537336.2:c.425T>C, XM_011537336.1:c.425T>C, XM_011537335.3:c.425T>C, XM_011537335.2:c.425T>C, XM_011537335.1:c.425T>C, XM_011537337.3:c.425T>C, XM_011537337.2:c.425T>C, XM_011537337.1:c.425T>C, NM_001330228.3:c.389T>C, NM_001330228.2:c.389T>C, NM_001330228.1:c.389T>C, NM_181291.3:c.389T>C, NM_181291.2:c.389T>C, XM_011537339.3:c.425T>C, XM_011537339.2:c.425T>C, XM_011537339.1:c.425T>C, XM_011537341.3:c.425T>C, XM_011537341.2:c.425T>C, XM_011537341.1:c.425T>C, XM_017021785.2:c.389T>C, XM_017021785.1:c.389T>C, NM_001353657.2:c.389T>C, NM_001353657.1:c.389T>C, NM_001242415.2:c.389T>C, NM_001242415.1:c.389T>C, NM_001353656.2:c.389T>C, NM_001353656.1:c.389T>C, NM_001353667.2:c.-224T>C, NM_001353667.1:c.-224T>C, NM_001353658.2:c.239T>C, NM_001353658.1:c.239T>C, XM_017021767.2:c.425T>C, XM_017021767.1:c.425T>C, NM_001353662.2:c.-131T>C, NM_001353662.1:c.-131T>C, NM_001353669.2:c.-131T>C, NM_001353669.1:c.-131T>C, NM_001353670.2:c.-224T>C, NM_001353670.1:c.-224T>C, NM_001242417.2:c.389T>C, NM_001242417.1:c.389T>C, NM_001353666.2:c.-224T>C, NM_001353666.1:c.-224T>C, NM_001353660.2:c.239T>C, NM_001353660.1:c.239T>C, NM_001353663.2:c.-131T>C, NM_001353663.1:c.-131T>C, NM_001242418.2:c.425T>C, NM_001242418.1:c.425T>C, NM_001353668.2:c.-131T>C, NM_001353668.1:c.-131T>C, NM_001353661.2:c.-36T>C, NM_001353661.1:c.-36T>C, NM_001353664.2:c.-131T>C, NM_001353664.1:c.-131T>C, NM_001353673.2:c.-224T>C, NM_001353673.1:c.-224T>C, NM_001353675.2:c.-124T>C, NM_001353675.1:c.-124T>C, NM_001353672.2:c.-224T>C, NM_001353672.1:c.-224T>C, NM_001353677.2:c.-217T>C, NM_001353677.1:c.-217T>C, NM_001353674.2:c.-131T>C, NM_001353674.1:c.-131T>C, NR_038354.2:n.468T>C, NR_038354.1:n.513T>C, XM_006720310.2:c.-131T>C, XM_006720310.1:c.-131T>C, NM_001353676.2:c.-124T>C, NM_001353676.1:c.-124T>C, XM_011537343.2:c.239T>C, XM_011537343.1:c.239T>C, NM_001353678.2:c.-124T>C, NM_001353678.1:c.-124T>C, XM_024449743.2:c.-224T>C, XM_024449743.1:c.-224T>C, XM_011537338.2:c.389T>C, XM_011537338.1:c.389T>C, XM_024449742.2:c.-131T>C, XM_024449742.1:c.-131T>C, XM_011537346.2:c.-131T>C, XM_011537346.1:c.-131T>C, NM_001353679.2:c.389T>C, NM_001353679.1:c.389T>C, NM_001320130.2:c.389T>C, NM_001320130.1:c.389T>C, NR_148510.2:n.231T>C, NR_148510.1:n.276T>C, XM_047431930.1:c.425T>C, XM_047431924.1:c.425T>C, XM_047431926.1:c.242T>C, XM_047431932.1:c.389T>C, XM_047431933.1:c.389T>C, XM_047431929.1:c.425T>C, XM_047431931.1:c.425T>C, NP_653175.2:p.Ile130Thr, XP_011535655.1:p.Ile142Thr, XP_011535642.1:p.Ile142Thr, XP_011535646.1:p.Ile80Thr, XP_011535654.1:p.Ile142Thr, XP_011535658.1:p.Ile142Thr, XP_011535638.1:p.Ile142Thr, XP_011535637.1:p.Ile142Thr, XP_011535639.1:p.Ile142Thr, NP_001317157.1:p.Ile130Thr, NP_851808.1:p.Ile130Thr, XP_011535641.1:p.Ile142Thr, XP_011535643.1:p.Ile142Thr, XP_016877274.1:p.Ile130Thr, NP_001340586.1:p.Ile130Thr, NP_001229344.1:p.Ile130Thr, NP_001340585.1:p.Ile130Thr, NP_001340587.1:p.Ile80Thr, XP_016877256.1:p.Ile142Thr, NP_001229346.1:p.Ile130Thr, NP_001340589.1:p.Ile80Thr, NP_001229347.1:p.Ile142Thr, XP_011535645.1:p.Ile80Thr, XP_011535640.1:p.Ile130Thr, NP_001340608.1:p.Ile130Thr, NP_001307059.1:p.Ile130Thr, XP_047287886.1:p.Ile142Thr, XP_047287880.1:p.Ile142Thr, XP_047287882.1:p.Ile81Thr, XP_047287888.1:p.Ile130Thr, XP_047287889.1:p.Ile130Thr, XP_047287885.1:p.Ile142Thr, XP_047287887.1:p.Ile142Thr

                        12.

                        rs1473827823 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          14:102208835 (GRCh38)
                          14:102675172 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:102208834:C:T
                          Gene:
                          WDR20 (Varview), LOC105370677 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000008/2 (GnomAD_exomes)
                          T=0.000019/5 (TOPMED)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          NC_000014.9:g.102208835C>T, NC_000014.8:g.102675172C>T, NM_144574.4:c.665C>T, NM_144574.3:c.665C>T, XM_011537340.4:c.794C>T, XM_011537340.3:c.794C>T, XM_011537340.2:c.794C>T, XM_011537340.1:c.794C>T, XM_011537344.4:c.515C>T, XM_011537344.3:c.515C>T, XM_011537344.2:c.515C>T, XM_011537344.1:c.515C>T, XM_011537336.3:c.794C>T, XM_011537336.2:c.794C>T, XM_011537336.1:c.794C>T, XM_011537335.3:c.794C>T, XM_011537335.2:c.794C>T, XM_011537335.1:c.794C>T, XM_011537337.3:c.794C>T, XM_011537337.2:c.794C>T, XM_011537337.1:c.794C>T, NM_001330228.3:c.758C>T, NM_001330228.2:c.758C>T, NM_001330228.1:c.758C>T, NM_181291.3:c.665C>T, NM_181291.2:c.665C>T, NM_181308.3:c.482C>T, NM_181308.2:c.482C>T, XM_011537339.3:c.794C>T, XM_011537339.2:c.794C>T, XM_011537339.1:c.794C>T, XM_011537341.3:c.701C>T, XM_011537341.2:c.701C>T, XM_011537341.1:c.701C>T, XM_011537345.3:c.293C>T, XM_011537345.2:c.293C>T, XM_011537345.1:c.293C>T, XM_017021785.2:c.758C>T, XM_017021785.1:c.758C>T, NM_001353657.2:c.665C>T, NM_001353657.1:c.665C>T, NM_001353656.2:c.665C>T, NM_001353656.1:c.665C>T, NM_001353667.2:c.146C>T, NM_001353667.1:c.146C>T, NM_001353658.2:c.515C>T, NM_001353658.1:c.515C>T, XM_017021767.2:c.701C>T, XM_017021767.1:c.701C>T, NM_001353662.2:c.146C>T, NM_001353662.1:c.146C>T, NM_001353669.2:c.146C>T, NM_001353669.1:c.146C>T, NM_001353670.2:c.146C>T, NM_001353670.1:c.146C>T, NM_001242417.2:c.758C>T, NM_001242417.1:c.758C>T, NM_001353666.2:c.146C>T, NM_001353666.1:c.146C>T, NM_001353660.2:c.515C>T, NM_001353660.1:c.515C>T, NM_001353663.2:c.146C>T, NM_001353663.1:c.146C>T, NM_001242418.2:c.701C>T, NM_001242418.1:c.701C>T, NM_001353668.2:c.146C>T, NM_001353668.1:c.146C>T, NM_001353661.2:c.272C>T, NM_001353661.1:c.272C>T, NM_001242416.2:c.482C>T, NM_001242416.1:c.482C>T, NM_001353664.2:c.146C>T, NM_001353664.1:c.146C>T, NM_001353673.2:c.146C>T, NM_001353673.1:c.146C>T, NM_001353672.2:c.146C>T, NM_001353672.1:c.146C>T, NM_001353659.2:c.518C>T, NM_001353659.1:c.518C>T, NM_001242414.2:c.*234C>T, NM_001242414.1:c.*234C>T, NM_001353674.2:c.146C>T, NM_001353674.1:c.146C>T, NM_001353665.2:c.146C>T, NM_001353665.1:c.146C>T, XM_006720310.2:c.146C>T, XM_006720310.1:c.146C>T, NM_001353671.2:c.146C>T, NM_001353671.1:c.146C>T, XM_011537343.2:c.608C>T, XM_011537343.1:c.608C>T, XM_024449743.2:c.146C>T, XM_024449743.1:c.146C>T, XM_011537338.2:c.758C>T, XM_011537338.1:c.758C>T, XM_024449742.2:c.146C>T, XM_024449742.1:c.146C>T, XM_011537346.2:c.146C>T, XM_011537346.1:c.146C>T, XM_006720308.2:c.482C>T, XM_006720308.1:c.482C>T, XM_047431924.1:c.701C>T, XM_047431925.1:c.482C>T, XM_047431926.1:c.518C>T, NM_181302.1:c.293C>T, XM_047431927.1:c.356C>T, XM_047431928.1:c.146C>T, NP_653175.2:p.Ala222Val, XP_011535642.1:p.Ala265Val, XP_011535646.1:p.Ala172Val, XP_011535638.1:p.Ala265Val, XP_011535637.1:p.Ala265Val, XP_011535639.1:p.Ala265Val, NP_001317157.1:p.Ala253Val, NP_851808.1:p.Ala222Val, NP_851825.1:p.Ala161Val, XP_011535641.1:p.Ala265Val, XP_011535643.1:p.Ala234Val, XP_011535647.1:p.Ala98Val, XP_016877274.1:p.Ala253Val, NP_001340586.1:p.Ala222Val, NP_001340585.1:p.Ala222Val, NP_001340596.1:p.Ala49Val, NP_001340587.1:p.Ala172Val, XP_016877256.1:p.Ala234Val, NP_001340591.1:p.Ala49Val, NP_001340598.1:p.Ala49Val, NP_001340599.1:p.Ala49Val, NP_001229346.1:p.Ala253Val, NP_001340595.1:p.Ala49Val, NP_001340589.1:p.Ala172Val, NP_001340592.1:p.Ala49Val, NP_001229347.1:p.Ala234Val, NP_001340597.1:p.Ala49Val, NP_001340590.1:p.Ala91Val, NP_001229345.1:p.Ala161Val, NP_001340593.1:p.Ala49Val, NP_001340602.1:p.Ala49Val, NP_001340601.1:p.Ala49Val, NP_001340588.1:p.Ala173Val, NP_001340603.1:p.Ala49Val, NP_001340594.1:p.Ala49Val, XP_006720373.1:p.Ala49Val, NP_001340600.1:p.Ala49Val, XP_011535645.1:p.Ala203Val, XP_024305511.1:p.Ala49Val, XP_011535640.1:p.Ala253Val, XP_024305510.1:p.Ala49Val, XP_011535648.1:p.Ala49Val, XP_006720371.1:p.Ala161Val, XP_047287880.1:p.Ala234Val, XP_047287881.1:p.Ala161Val, XP_047287882.1:p.Ala173Val, XP_047287883.1:p.Ala119Val, XP_047287884.1:p.Ala49Val

                          13.

                          rs1473474010 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            14:102139969 (GRCh38)
                            14:102606306 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:102139968:C:A
                            Gene:
                            HSP90AA1 (Varview), WDR20 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_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_000014.9:g.102139969C>A, NC_000014.8:g.102606306C>A, NM_144574.4:c.46C>A, NM_144574.3:c.46C>A, XM_011537353.4:c.46C>A, XM_011537353.3:c.46C>A, XM_011537353.2:c.46C>A, XM_011537353.1:c.46C>A, XM_011537340.4:c.46C>A, XM_011537340.3:c.46C>A, XM_011537340.2:c.46C>A, XM_011537340.1:c.46C>A, XM_011537344.4:c.-157C>A, XM_011537344.3:c.-157C>A, XM_011537344.2:c.-157C>A, XM_011537344.1:c.-157C>A, XM_011537352.4:c.46C>A, XM_011537352.3:c.46C>A, XM_011537352.2:c.46C>A, XM_011537352.1:c.46C>A, XM_011537356.4:c.46C>A, XM_011537356.3:c.46C>A, XM_011537356.2:c.46C>A, XM_011537356.1:c.46C>A, XM_011537336.3:c.46C>A, XM_011537336.2:c.46C>A, XM_011537336.1:c.46C>A, XM_011537335.3:c.46C>A, XM_011537335.2:c.46C>A, XM_011537335.1:c.46C>A, XM_011537337.3:c.46C>A, XM_011537337.2:c.46C>A, XM_011537337.1:c.46C>A, NM_001330228.3:c.46C>A, NM_001330228.2:c.46C>A, NM_001330228.1:c.46C>A, NM_181291.3:c.46C>A, NM_181291.2:c.46C>A, NM_181308.3:c.46C>A, NM_181308.2:c.46C>A, XM_011537339.3:c.46C>A, XM_011537339.2:c.46C>A, XM_011537339.1:c.46C>A, XM_011537341.3:c.46C>A, XM_011537341.2:c.46C>A, XM_011537341.1:c.46C>A, XM_011537345.3:c.-157C>A, XM_011537345.2:c.-157C>A, XM_011537345.1:c.-157C>A, XM_017021785.2:c.46C>A, XM_017021785.1:c.46C>A, NM_001353657.2:c.46C>A, NM_001353657.1:c.46C>A, NM_001242415.2:c.46C>A, NM_001242415.1:c.46C>A, NM_001353656.2:c.46C>A, NM_001353656.1:c.46C>A, NM_001353667.2:c.-434C>A, NM_001353667.1:c.-434C>A, NM_001353658.2:c.-157C>A, NM_001353658.1:c.-157C>A, XM_017021767.2:c.46C>A, XM_017021767.1:c.46C>A, NM_001242417.2:c.46C>A, NM_001242417.1:c.46C>A, NM_001353666.2:c.-382C>A, NM_001353666.1:c.-382C>A, NM_001353660.2:c.-157C>A, NM_001353660.1:c.-157C>A, NM_001353663.2:c.-341C>A, NM_001353663.1:c.-341C>A, NM_001242418.2:c.46C>A, NM_001242418.1:c.46C>A, NM_001353661.2:c.-379C>A, NM_001353661.1:c.-379C>A, NM_001242416.2:c.46C>A, NM_001242416.1:c.46C>A, NM_001353664.2:c.-289C>A, NM_001353664.1:c.-289C>A, NM_001353673.2:c.-434C>A, NM_001353673.1:c.-434C>A, NM_001353675.2:c.-467C>A, NM_001353675.1:c.-467C>A, NM_001353672.2:c.-382C>A, NM_001353672.1:c.-382C>A, NM_001353659.2:c.46C>A, NM_001353659.1:c.46C>A, NM_001353677.2:c.-560C>A, NM_001353677.1:c.-560C>A, NM_001242414.2:c.46C>A, NM_001242414.1:c.46C>A, NM_001353674.2:c.-289C>A, NM_001353674.1:c.-289C>A, NM_001353665.2:c.-106C>A, NM_001353665.1:c.-106C>A, NR_038354.2:n.73C>A, NR_038354.1:n.118C>A, NM_001353676.2:c.-467C>A, NM_001353676.1:c.-467C>A, NM_001353671.2:c.-106C>A, NM_001353671.1:c.-106C>A, XM_011537343.2:c.-157C>A, XM_011537343.1:c.-157C>A, NM_001353678.2:c.-282C>A, NM_001353678.1:c.-282C>A, XM_011537338.2:c.46C>A, XM_011537338.1:c.46C>A, XM_006720308.2:c.46C>A, XM_006720308.1:c.46C>A, NM_001353679.2:c.46C>A, NM_001353679.1:c.46C>A, NM_001320130.2:c.46C>A, NM_001320130.1:c.46C>A, NR_148510.2:n.73C>A, NR_148510.1:n.118C>A, NM_001353681.2:c.46C>A, NM_001353681.1:c.46C>A, NM_001353680.2:c.46C>A, NM_001353680.1:c.46C>A, NR_148511.2:n.73C>A, NR_148511.1:n.118C>A, XM_047431930.1:c.46C>A, XM_047431924.1:c.46C>A, XM_047431925.1:c.46C>A, NM_181302.1:c.-157C>A, XM_047431932.1:c.46C>A, XM_047431933.1:c.46C>A, XM_047431928.1:c.-119C>A, XM_047431929.1:c.46C>A, XM_047431931.1:c.46C>A, NP_653175.2:p.Gln16Lys, XP_011535655.1:p.Gln16Lys, XP_011535642.1:p.Gln16Lys, XP_011535654.1:p.Gln16Lys, XP_011535658.1:p.Gln16Lys, XP_011535638.1:p.Gln16Lys, XP_011535637.1:p.Gln16Lys, XP_011535639.1:p.Gln16Lys, NP_001317157.1:p.Gln16Lys, NP_851808.1:p.Gln16Lys, NP_851825.1:p.Gln16Lys, XP_011535641.1:p.Gln16Lys, XP_011535643.1:p.Gln16Lys, XP_016877274.1:p.Gln16Lys, NP_001340586.1:p.Gln16Lys, NP_001229344.1:p.Gln16Lys, NP_001340585.1:p.Gln16Lys, XP_016877256.1:p.Gln16Lys, NP_001229346.1:p.Gln16Lys, NP_001229347.1:p.Gln16Lys, NP_001229345.1:p.Gln16Lys, NP_001340588.1:p.Gln16Lys, NP_001229343.1:p.Gln16Lys, XP_011535640.1:p.Gln16Lys, XP_006720371.1:p.Gln16Lys, NP_001340608.1:p.Gln16Lys, NP_001307059.1:p.Gln16Lys, NP_001340610.1:p.Gln16Lys, NP_001340609.1:p.Gln16Lys, XP_047287886.1:p.Gln16Lys, XP_047287880.1:p.Gln16Lys, XP_047287881.1:p.Gln16Lys, XP_047287888.1:p.Gln16Lys, XP_047287889.1:p.Gln16Lys, XP_047287885.1:p.Gln16Lys, XP_047287887.1:p.Gln16Lys

                            14.

                            rs1471858589 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              14:102209549 (GRCh38)
                              14:102675886 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:102209548:A:C,NC_000014.9:102209548:A:G
                              Gene:
                              WDR20 (Varview), LOC105370677 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              G=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000014.9:g.102209549A>C, NC_000014.9:g.102209549A>G, NC_000014.8:g.102675886A>C, NC_000014.8:g.102675886A>G, NM_144574.4:c.1379A>C, NM_144574.4:c.1379A>G, NM_144574.3:c.1379A>C, NM_144574.3:c.1379A>G, XM_011537353.4:c.*673A>C, XM_011537353.4:c.*673A>G, XM_011537353.3:c.*673A>C, XM_011537353.3:c.*673A>G, XM_011537353.2:c.*673A>C, XM_011537353.2:c.*673A>G, XM_011537353.1:c.*673A>C, XM_011537353.1:c.*673A>G, XM_011537340.4:c.1508A>C, XM_011537340.4:c.1508A>G, XM_011537340.3:c.1508A>C, XM_011537340.3:c.1508A>G, XM_011537340.2:c.1508A>C, XM_011537340.2:c.1508A>G, XM_011537340.1:c.1508A>C, XM_011537340.1:c.1508A>G, XM_011537344.4:c.1229A>C, XM_011537344.4:c.1229A>G, XM_011537344.3:c.1229A>C, XM_011537344.3:c.1229A>G, XM_011537344.2:c.1229A>C, XM_011537344.2:c.1229A>G, XM_011537344.1:c.1229A>C, XM_011537344.1:c.1229A>G, XM_011537336.3:c.1508A>C, XM_011537336.3:c.1508A>G, XM_011537336.2:c.1508A>C, XM_011537336.2:c.1508A>G, XM_011537336.1:c.1508A>C, XM_011537336.1:c.1508A>G, XM_011537335.3:c.1508A>C, XM_011537335.3:c.1508A>G, XM_011537335.2:c.1508A>C, XM_011537335.2:c.1508A>G, XM_011537335.1:c.1508A>C, XM_011537335.1:c.1508A>G, XM_011537337.3:c.1508A>C, XM_011537337.3:c.1508A>G, XM_011537337.2:c.1508A>C, XM_011537337.2:c.1508A>G, XM_011537337.1:c.1508A>C, XM_011537337.1:c.1508A>G, NM_001330228.3:c.1472A>C, NM_001330228.3:c.1472A>G, NM_001330228.2:c.1472A>C, NM_001330228.2:c.1472A>G, NM_001330228.1:c.1472A>C, NM_001330228.1:c.1472A>G, NM_181291.3:c.1379A>C, NM_181291.3:c.1379A>G, NM_181291.2:c.1379A>C, NM_181291.2:c.1379A>G, NM_181308.3:c.1196A>C, NM_181308.3:c.1196A>G, NM_181308.2:c.1196A>C, NM_181308.2:c.1196A>G, XM_011537339.3:c.1508A>C, XM_011537339.3:c.1508A>G, XM_011537339.2:c.1508A>C, XM_011537339.2:c.1508A>G, XM_011537339.1:c.1508A>C, XM_011537339.1:c.1508A>G, XM_011537341.3:c.1415A>C, XM_011537341.3:c.1415A>G, XM_011537341.2:c.1415A>C, XM_011537341.2:c.1415A>G, XM_011537341.1:c.1415A>C, XM_011537341.1:c.1415A>G, XM_011537345.3:c.1007A>C, XM_011537345.3:c.1007A>G, XM_011537345.2:c.1007A>C, XM_011537345.2:c.1007A>G, XM_011537345.1:c.1007A>C, XM_011537345.1:c.1007A>G, XM_017021785.2:c.1472A>C, XM_017021785.2:c.1472A>G, XM_017021785.1:c.1472A>C, XM_017021785.1:c.1472A>G, NM_001353657.2:c.1379A>C, NM_001353657.2:c.1379A>G, NM_001353657.1:c.1379A>C, NM_001353657.1:c.1379A>G, NM_001353656.2:c.1379A>C, NM_001353656.2:c.1379A>G, NM_001353656.1:c.1379A>C, NM_001353656.1:c.1379A>G, NM_001353667.2:c.860A>C, NM_001353667.2:c.860A>G, NM_001353667.1:c.860A>C, NM_001353667.1:c.860A>G, NM_001353658.2:c.1229A>C, NM_001353658.2:c.1229A>G, NM_001353658.1:c.1229A>C, NM_001353658.1:c.1229A>G, XM_017021767.2:c.1415A>C, XM_017021767.2:c.1415A>G, XM_017021767.1:c.1415A>C, XM_017021767.1:c.1415A>G, NM_001353662.2:c.860A>C, NM_001353662.2:c.860A>G, NM_001353662.1:c.860A>C, NM_001353662.1:c.860A>G, NM_001353669.2:c.860A>C, NM_001353669.2:c.860A>G, NM_001353669.1:c.860A>C, NM_001353669.1:c.860A>G, NM_001353670.2:c.860A>C, NM_001353670.2:c.860A>G, NM_001353670.1:c.860A>C, NM_001353670.1:c.860A>G, NM_001242417.2:c.1472A>C, NM_001242417.2:c.1472A>G, NM_001242417.1:c.1472A>C, NM_001242417.1:c.1472A>G, NM_001353666.2:c.860A>C, NM_001353666.2:c.860A>G, NM_001353666.1:c.860A>C, NM_001353666.1:c.860A>G, NM_001353660.2:c.1229A>C, NM_001353660.2:c.1229A>G, NM_001353660.1:c.1229A>C, NM_001353660.1:c.1229A>G, NM_001353663.2:c.860A>C, NM_001353663.2:c.860A>G, NM_001353663.1:c.860A>C, NM_001353663.1:c.860A>G, NM_001242418.2:c.1415A>C, NM_001242418.2:c.1415A>G, NM_001242418.1:c.1415A>C, NM_001242418.1:c.1415A>G, NM_001353668.2:c.860A>C, NM_001353668.2:c.860A>G, NM_001353668.1:c.860A>C, NM_001353668.1:c.860A>G, NM_001353661.2:c.986A>C, NM_001353661.2:c.986A>G, NM_001353661.1:c.986A>C, NM_001353661.1:c.986A>G, NM_001242416.2:c.1196A>C, NM_001242416.2:c.1196A>G, NM_001242416.1:c.1196A>C, NM_001242416.1:c.1196A>G, NM_001353664.2:c.860A>C, NM_001353664.2:c.860A>G, NM_001353664.1:c.860A>C, NM_001353664.1:c.860A>G, NM_001353673.2:c.860A>C, NM_001353673.2:c.860A>G, NM_001353673.1:c.860A>C, NM_001353673.1:c.860A>G, NM_001353675.2:c.608A>C, NM_001353675.2:c.608A>G, NM_001353675.1:c.608A>C, NM_001353675.1:c.608A>G, NM_001353672.2:c.860A>C, NM_001353672.2:c.860A>G, NM_001353672.1:c.860A>C, NM_001353672.1:c.860A>G, NM_001353659.2:c.1232A>C, NM_001353659.2:c.1232A>G, NM_001353659.1:c.1232A>C, NM_001353659.1:c.1232A>G, NM_001353677.2:c.608A>C, NM_001353677.2:c.608A>G, NM_001353677.1:c.608A>C, NM_001353677.1:c.608A>G, NM_001242414.2:c.*948A>C, NM_001242414.2:c.*948A>G, NM_001242414.1:c.*948A>C, NM_001242414.1:c.*948A>G, NM_001353674.2:c.860A>C, NM_001353674.2:c.860A>G, NM_001353674.1:c.860A>C, NM_001353674.1:c.860A>G, NM_001353665.2:c.860A>C, NM_001353665.2:c.860A>G, NM_001353665.1:c.860A>C, NM_001353665.1:c.860A>G, NR_038354.2:n.1199A>C, NR_038354.2:n.1199A>G, NR_038354.1:n.1244A>C, NR_038354.1:n.1244A>G, XM_006720310.2:c.860A>C, XM_006720310.2:c.860A>G, XM_006720310.1:c.860A>C, XM_006720310.1:c.860A>G, NM_001353676.2:c.608A>C, NM_001353676.2:c.608A>G, NM_001353676.1:c.608A>C, NM_001353676.1:c.608A>G, NM_001353671.2:c.860A>C, NM_001353671.2:c.860A>G, NM_001353671.1:c.860A>C, NM_001353671.1:c.860A>G, XM_011537343.2:c.1322A>C, XM_011537343.2:c.1322A>G, XM_011537343.1:c.1322A>C, XM_011537343.1:c.1322A>G, NM_001353678.2:c.608A>C, NM_001353678.2:c.608A>G, NM_001353678.1:c.608A>C, NM_001353678.1:c.608A>G, XM_024449743.2:c.860A>C, XM_024449743.2:c.860A>G, XM_024449743.1:c.860A>C, XM_024449743.1:c.860A>G, XM_011537338.2:c.1472A>C, XM_011537338.2:c.1472A>G, XM_011537338.1:c.1472A>C, XM_011537338.1:c.1472A>G, XM_024449742.2:c.860A>C, XM_024449742.2:c.860A>G, XM_024449742.1:c.860A>C, XM_024449742.1:c.860A>G, XM_011537346.2:c.860A>C, XM_011537346.2:c.860A>G, XM_011537346.1:c.860A>C, XM_011537346.1:c.860A>G, XM_006720308.2:c.1196A>C, XM_006720308.2:c.1196A>G, XM_006720308.1:c.1196A>C, XM_006720308.1:c.1196A>G, XM_047431924.1:c.1415A>C, XM_047431924.1:c.1415A>G, XM_047431925.1:c.1196A>C, XM_047431925.1:c.1196A>G, XM_047431926.1:c.1232A>C, XM_047431926.1:c.1232A>G, NM_181302.1:c.1007A>C, NM_181302.1:c.1007A>G, XM_047431932.1:c.*673A>C, XM_047431932.1:c.*673A>G, XM_047431927.1:c.1070A>C, XM_047431927.1:c.1070A>G, XM_047431933.1:c.*673A>C, XM_047431933.1:c.*673A>G, XM_047431928.1:c.860A>C, XM_047431928.1:c.860A>G, NP_653175.2:p.Lys460Thr, NP_653175.2:p.Lys460Arg, XP_011535642.1:p.Lys503Thr, XP_011535642.1:p.Lys503Arg, XP_011535646.1:p.Lys410Thr, XP_011535646.1:p.Lys410Arg, XP_011535638.1:p.Lys503Thr, XP_011535638.1:p.Lys503Arg, XP_011535637.1:p.Lys503Thr, XP_011535637.1:p.Lys503Arg, XP_011535639.1:p.Lys503Thr, XP_011535639.1:p.Lys503Arg, NP_001317157.1:p.Lys491Thr, NP_001317157.1:p.Lys491Arg, NP_851808.1:p.Lys460Thr, NP_851808.1:p.Lys460Arg, NP_851825.1:p.Lys399Thr, NP_851825.1:p.Lys399Arg, XP_011535641.1:p.Lys503Thr, XP_011535641.1:p.Lys503Arg, XP_011535643.1:p.Lys472Thr, XP_011535643.1:p.Lys472Arg, XP_011535647.1:p.Lys336Thr, XP_011535647.1:p.Lys336Arg, XP_016877274.1:p.Lys491Thr, XP_016877274.1:p.Lys491Arg, NP_001340586.1:p.Lys460Thr, NP_001340586.1:p.Lys460Arg, NP_001340585.1:p.Lys460Thr, NP_001340585.1:p.Lys460Arg, NP_001340596.1:p.Lys287Thr, NP_001340596.1:p.Lys287Arg, NP_001340587.1:p.Lys410Thr, NP_001340587.1:p.Lys410Arg, XP_016877256.1:p.Lys472Thr, XP_016877256.1:p.Lys472Arg, NP_001340591.1:p.Lys287Thr, NP_001340591.1:p.Lys287Arg, NP_001340598.1:p.Lys287Thr, NP_001340598.1:p.Lys287Arg, NP_001340599.1:p.Lys287Thr, NP_001340599.1:p.Lys287Arg, NP_001229346.1:p.Lys491Thr, NP_001229346.1:p.Lys491Arg, NP_001340595.1:p.Lys287Thr, NP_001340595.1:p.Lys287Arg, NP_001340589.1:p.Lys410Thr, NP_001340589.1:p.Lys410Arg, NP_001340592.1:p.Lys287Thr, NP_001340592.1:p.Lys287Arg, NP_001229347.1:p.Lys472Thr, NP_001229347.1:p.Lys472Arg, NP_001340597.1:p.Lys287Thr, NP_001340597.1:p.Lys287Arg, NP_001340590.1:p.Lys329Thr, NP_001340590.1:p.Lys329Arg, NP_001229345.1:p.Lys399Thr, NP_001229345.1:p.Lys399Arg, NP_001340593.1:p.Lys287Thr, NP_001340593.1:p.Lys287Arg, NP_001340602.1:p.Lys287Thr, NP_001340602.1:p.Lys287Arg, NP_001340604.1:p.Lys203Thr, NP_001340604.1:p.Lys203Arg, NP_001340601.1:p.Lys287Thr, NP_001340601.1:p.Lys287Arg, NP_001340588.1:p.Lys411Thr, NP_001340588.1:p.Lys411Arg, NP_001340606.1:p.Lys203Thr, NP_001340606.1:p.Lys203Arg, NP_001340603.1:p.Lys287Thr, NP_001340603.1:p.Lys287Arg, NP_001340594.1:p.Lys287Thr, NP_001340594.1:p.Lys287Arg, XP_006720373.1:p.Lys287Thr, XP_006720373.1:p.Lys287Arg, NP_001340605.1:p.Lys203Thr, NP_001340605.1:p.Lys203Arg, NP_001340600.1:p.Lys287Thr, NP_001340600.1:p.Lys287Arg, XP_011535645.1:p.Lys441Thr, XP_011535645.1:p.Lys441Arg, NP_001340607.1:p.Lys203Thr, NP_001340607.1:p.Lys203Arg, XP_024305511.1:p.Lys287Thr, XP_024305511.1:p.Lys287Arg, XP_011535640.1:p.Lys491Thr, XP_011535640.1:p.Lys491Arg, XP_024305510.1:p.Lys287Thr, XP_024305510.1:p.Lys287Arg, XP_011535648.1:p.Lys287Thr, XP_011535648.1:p.Lys287Arg, XP_006720371.1:p.Lys399Thr, XP_006720371.1:p.Lys399Arg, XP_047287880.1:p.Lys472Thr, XP_047287880.1:p.Lys472Arg, XP_047287881.1:p.Lys399Thr, XP_047287881.1:p.Lys399Arg, XP_047287882.1:p.Lys411Thr, XP_047287882.1:p.Lys411Arg, XP_047287883.1:p.Lys357Thr, XP_047287883.1:p.Lys357Arg, XP_047287884.1:p.Lys287Thr, XP_047287884.1:p.Lys287Arg

                              15.

                              rs1468286585 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                14:102208989 (GRCh38)
                                14:102675326 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:102208988:T:G
                                Gene:
                                WDR20 (Varview), LOC105370677 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000014.9:g.102208989T>G, NC_000014.8:g.102675326T>G, NM_144574.4:c.819T>G, NM_144574.3:c.819T>G, XM_011537353.4:c.*113T>G, XM_011537353.3:c.*113T>G, XM_011537353.2:c.*113T>G, XM_011537353.1:c.*113T>G, XM_011537340.4:c.948T>G, XM_011537340.3:c.948T>G, XM_011537340.2:c.948T>G, XM_011537340.1:c.948T>G, XM_011537344.4:c.669T>G, XM_011537344.3:c.669T>G, XM_011537344.2:c.669T>G, XM_011537344.1:c.669T>G, XM_011537336.3:c.948T>G, XM_011537336.2:c.948T>G, XM_011537336.1:c.948T>G, XM_011537335.3:c.948T>G, XM_011537335.2:c.948T>G, XM_011537335.1:c.948T>G, XM_011537337.3:c.948T>G, XM_011537337.2:c.948T>G, XM_011537337.1:c.948T>G, NM_001330228.3:c.912T>G, NM_001330228.2:c.912T>G, NM_001330228.1:c.912T>G, NM_181291.3:c.819T>G, NM_181291.2:c.819T>G, NM_181308.3:c.636T>G, NM_181308.2:c.636T>G, XM_011537339.3:c.948T>G, XM_011537339.2:c.948T>G, XM_011537339.1:c.948T>G, XM_011537341.3:c.855T>G, XM_011537341.2:c.855T>G, XM_011537341.1:c.855T>G, XM_011537345.3:c.447T>G, XM_011537345.2:c.447T>G, XM_011537345.1:c.447T>G, XM_017021785.2:c.912T>G, XM_017021785.1:c.912T>G, NM_001353657.2:c.819T>G, NM_001353657.1:c.819T>G, NM_001353656.2:c.819T>G, NM_001353656.1:c.819T>G, NM_001353667.2:c.300T>G, NM_001353667.1:c.300T>G, NM_001353658.2:c.669T>G, NM_001353658.1:c.669T>G, XM_017021767.2:c.855T>G, XM_017021767.1:c.855T>G, NM_001353662.2:c.300T>G, NM_001353662.1:c.300T>G, NM_001353669.2:c.300T>G, NM_001353669.1:c.300T>G, NM_001353670.2:c.300T>G, NM_001353670.1:c.300T>G, NM_001242417.2:c.912T>G, NM_001242417.1:c.912T>G, NM_001353666.2:c.300T>G, NM_001353666.1:c.300T>G, NM_001353660.2:c.669T>G, NM_001353660.1:c.669T>G, NM_001353663.2:c.300T>G, NM_001353663.1:c.300T>G, NM_001242418.2:c.855T>G, NM_001242418.1:c.855T>G, NM_001353668.2:c.300T>G, NM_001353668.1:c.300T>G, NM_001353661.2:c.426T>G, NM_001353661.1:c.426T>G, NM_001242416.2:c.636T>G, NM_001242416.1:c.636T>G, NM_001353664.2:c.300T>G, NM_001353664.1:c.300T>G, NM_001353673.2:c.300T>G, NM_001353673.1:c.300T>G, NM_001353675.2:c.48T>G, NM_001353675.1:c.48T>G, NM_001353672.2:c.300T>G, NM_001353672.1:c.300T>G, NM_001353659.2:c.672T>G, NM_001353659.1:c.672T>G, NM_001353677.2:c.48T>G, NM_001353677.1:c.48T>G, NM_001242414.2:c.*388T>G, NM_001242414.1:c.*388T>G, NM_001353674.2:c.300T>G, NM_001353674.1:c.300T>G, NM_001353665.2:c.300T>G, NM_001353665.1:c.300T>G, NR_038354.2:n.639T>G, NR_038354.1:n.684T>G, XM_006720310.2:c.300T>G, XM_006720310.1:c.300T>G, NM_001353676.2:c.48T>G, NM_001353676.1:c.48T>G, NM_001353671.2:c.300T>G, NM_001353671.1:c.300T>G, XM_011537343.2:c.762T>G, XM_011537343.1:c.762T>G, NM_001353678.2:c.48T>G, NM_001353678.1:c.48T>G, XM_024449743.2:c.300T>G, XM_024449743.1:c.300T>G, XM_011537338.2:c.912T>G, XM_011537338.1:c.912T>G, XM_024449742.2:c.300T>G, XM_024449742.1:c.300T>G, XM_011537346.2:c.300T>G, XM_011537346.1:c.300T>G, XM_006720308.2:c.636T>G, XM_006720308.1:c.636T>G, XM_047431924.1:c.855T>G, XM_047431925.1:c.636T>G, XM_047431926.1:c.672T>G, NM_181302.1:c.447T>G, XM_047431932.1:c.*113T>G, XM_047431927.1:c.510T>G, XM_047431933.1:c.*113T>G, XM_047431928.1:c.300T>G, NP_653175.2:p.Asp273Glu, XP_011535642.1:p.Asp316Glu, XP_011535646.1:p.Asp223Glu, XP_011535638.1:p.Asp316Glu, XP_011535637.1:p.Asp316Glu, XP_011535639.1:p.Asp316Glu, NP_001317157.1:p.Asp304Glu, NP_851808.1:p.Asp273Glu, NP_851825.1:p.Asp212Glu, XP_011535641.1:p.Asp316Glu, XP_011535643.1:p.Asp285Glu, XP_011535647.1:p.Asp149Glu, XP_016877274.1:p.Asp304Glu, NP_001340586.1:p.Asp273Glu, NP_001340585.1:p.Asp273Glu, NP_001340596.1:p.Asp100Glu, NP_001340587.1:p.Asp223Glu, XP_016877256.1:p.Asp285Glu, NP_001340591.1:p.Asp100Glu, NP_001340598.1:p.Asp100Glu, NP_001340599.1:p.Asp100Glu, NP_001229346.1:p.Asp304Glu, NP_001340595.1:p.Asp100Glu, NP_001340589.1:p.Asp223Glu, NP_001340592.1:p.Asp100Glu, NP_001229347.1:p.Asp285Glu, NP_001340597.1:p.Asp100Glu, NP_001340590.1:p.Asp142Glu, NP_001229345.1:p.Asp212Glu, NP_001340593.1:p.Asp100Glu, NP_001340602.1:p.Asp100Glu, NP_001340604.1:p.Asp16Glu, NP_001340601.1:p.Asp100Glu, NP_001340588.1:p.Asp224Glu, NP_001340606.1:p.Asp16Glu, NP_001340603.1:p.Asp100Glu, NP_001340594.1:p.Asp100Glu, XP_006720373.1:p.Asp100Glu, NP_001340605.1:p.Asp16Glu, NP_001340600.1:p.Asp100Glu, XP_011535645.1:p.Asp254Glu, NP_001340607.1:p.Asp16Glu, XP_024305511.1:p.Asp100Glu, XP_011535640.1:p.Asp304Glu, XP_024305510.1:p.Asp100Glu, XP_011535648.1:p.Asp100Glu, XP_006720371.1:p.Asp212Glu, XP_047287880.1:p.Asp285Glu, XP_047287881.1:p.Asp212Glu, XP_047287882.1:p.Asp224Glu, XP_047287883.1:p.Asp170Glu, XP_047287884.1:p.Asp100Glu

                                16.

                                rs1466119187 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  14:102209841 (GRCh38)
                                  14:102676178 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:102209840:A:C
                                  Gene:
                                  WDR20 (Varview), LOC105370677 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.102209841A>C, NC_000014.8:g.102676178A>C, NM_144574.4:c.1671A>C, NM_144574.3:c.1671A>C, XM_011537353.4:c.*965A>C, XM_011537353.3:c.*965A>C, XM_011537353.2:c.*965A>C, XM_011537353.1:c.*965A>C, XM_011537340.4:c.1800A>C, XM_011537340.3:c.1800A>C, XM_011537340.2:c.1800A>C, XM_011537340.1:c.1800A>C, XM_011537344.4:c.1521A>C, XM_011537344.3:c.1521A>C, XM_011537344.2:c.1521A>C, XM_011537344.1:c.1521A>C, XM_011537336.3:c.1800A>C, XM_011537336.2:c.1800A>C, XM_011537336.1:c.1800A>C, XM_011537335.3:c.1800A>C, XM_011537335.2:c.1800A>C, XM_011537335.1:c.1800A>C, XM_011537337.3:c.1800A>C, XM_011537337.2:c.1800A>C, XM_011537337.1:c.1800A>C, NM_001330228.3:c.1764A>C, NM_001330228.2:c.1764A>C, NM_001330228.1:c.1764A>C, NM_181291.3:c.1671A>C, NM_181291.2:c.1671A>C, NM_181308.3:c.1488A>C, NM_181308.2:c.1488A>C, XM_011537339.3:c.1800A>C, XM_011537339.2:c.1800A>C, XM_011537339.1:c.1800A>C, XM_011537341.3:c.1707A>C, XM_011537341.2:c.1707A>C, XM_011537341.1:c.1707A>C, XM_011537345.3:c.1299A>C, XM_011537345.2:c.1299A>C, XM_011537345.1:c.1299A>C, XM_017021785.2:c.1764A>C, XM_017021785.1:c.1764A>C, NM_001353657.2:c.1671A>C, NM_001353657.1:c.1671A>C, NM_001353656.2:c.1671A>C, NM_001353656.1:c.1671A>C, NM_001353667.2:c.1152A>C, NM_001353667.1:c.1152A>C, NM_001353658.2:c.1521A>C, NM_001353658.1:c.1521A>C, XM_017021767.2:c.1707A>C, XM_017021767.1:c.1707A>C, NM_001353662.2:c.1152A>C, NM_001353662.1:c.1152A>C, NM_001353669.2:c.1152A>C, NM_001353669.1:c.1152A>C, NM_001353670.2:c.1152A>C, NM_001353670.1:c.1152A>C, NM_001242417.2:c.1764A>C, NM_001242417.1:c.1764A>C, NM_001353666.2:c.1152A>C, NM_001353666.1:c.1152A>C, NM_001353660.2:c.1521A>C, NM_001353660.1:c.1521A>C, NM_001353663.2:c.1152A>C, NM_001353663.1:c.1152A>C, NM_001242418.2:c.1707A>C, NM_001242418.1:c.1707A>C, NM_001353668.2:c.1152A>C, NM_001353668.1:c.1152A>C, NM_001353661.2:c.1278A>C, NM_001353661.1:c.1278A>C, NM_001242416.2:c.1488A>C, NM_001242416.1:c.1488A>C, NM_001353664.2:c.1152A>C, NM_001353664.1:c.1152A>C, NM_001353673.2:c.1152A>C, NM_001353673.1:c.1152A>C, NM_001353675.2:c.900A>C, NM_001353675.1:c.900A>C, NM_001353672.2:c.1152A>C, NM_001353672.1:c.1152A>C, NM_001353659.2:c.1524A>C, NM_001353659.1:c.1524A>C, NM_001353677.2:c.900A>C, NM_001353677.1:c.900A>C, NM_001242414.2:c.*1240A>C, NM_001242414.1:c.*1240A>C, NM_001353674.2:c.1152A>C, NM_001353674.1:c.1152A>C, NM_001353665.2:c.1152A>C, NM_001353665.1:c.1152A>C, NR_038354.2:n.1491A>C, NR_038354.1:n.1536A>C, XM_006720310.2:c.1152A>C, XM_006720310.1:c.1152A>C, NM_001353676.2:c.900A>C, NM_001353676.1:c.900A>C, NM_001353671.2:c.1152A>C, NM_001353671.1:c.1152A>C, XM_011537343.2:c.1614A>C, XM_011537343.1:c.1614A>C, NM_001353678.2:c.900A>C, NM_001353678.1:c.900A>C, XM_024449743.2:c.1152A>C, XM_024449743.1:c.1152A>C, XM_011537338.2:c.1764A>C, XM_011537338.1:c.1764A>C, XM_024449742.2:c.1152A>C, XM_024449742.1:c.1152A>C, XM_011537346.2:c.1152A>C, XM_011537346.1:c.1152A>C, XM_006720308.2:c.1488A>C, XM_006720308.1:c.1488A>C, XM_047431924.1:c.1707A>C, XM_047431925.1:c.1488A>C, XM_047431926.1:c.1524A>C, NM_181302.1:c.1299A>C, XM_047431932.1:c.*965A>C, XM_047431927.1:c.1362A>C, XM_047431933.1:c.*965A>C, XM_047431928.1:c.1152A>C

                                  17.

                                  rs1463882688 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    14:102209036 (GRCh38)
                                    14:102675373 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:102209035:G:C
                                    Gene:
                                    WDR20 (Varview), LOC105370677 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_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_000014.9:g.102209036G>C, NC_000014.8:g.102675373G>C, NM_144574.4:c.866G>C, NM_144574.3:c.866G>C, XM_011537353.4:c.*160G>C, XM_011537353.3:c.*160G>C, XM_011537353.2:c.*160G>C, XM_011537353.1:c.*160G>C, XM_011537340.4:c.995G>C, XM_011537340.3:c.995G>C, XM_011537340.2:c.995G>C, XM_011537340.1:c.995G>C, XM_011537344.4:c.716G>C, XM_011537344.3:c.716G>C, XM_011537344.2:c.716G>C, XM_011537344.1:c.716G>C, XM_011537336.3:c.995G>C, XM_011537336.2:c.995G>C, XM_011537336.1:c.995G>C, XM_011537335.3:c.995G>C, XM_011537335.2:c.995G>C, XM_011537335.1:c.995G>C, XM_011537337.3:c.995G>C, XM_011537337.2:c.995G>C, XM_011537337.1:c.995G>C, NM_001330228.3:c.959G>C, NM_001330228.2:c.959G>C, NM_001330228.1:c.959G>C, NM_181291.3:c.866G>C, NM_181291.2:c.866G>C, NM_181308.3:c.683G>C, NM_181308.2:c.683G>C, XM_011537339.3:c.995G>C, XM_011537339.2:c.995G>C, XM_011537339.1:c.995G>C, XM_011537341.3:c.902G>C, XM_011537341.2:c.902G>C, XM_011537341.1:c.902G>C, XM_011537345.3:c.494G>C, XM_011537345.2:c.494G>C, XM_011537345.1:c.494G>C, XM_017021785.2:c.959G>C, XM_017021785.1:c.959G>C, NM_001353657.2:c.866G>C, NM_001353657.1:c.866G>C, NM_001353656.2:c.866G>C, NM_001353656.1:c.866G>C, NM_001353667.2:c.347G>C, NM_001353667.1:c.347G>C, NM_001353658.2:c.716G>C, NM_001353658.1:c.716G>C, XM_017021767.2:c.902G>C, XM_017021767.1:c.902G>C, NM_001353662.2:c.347G>C, NM_001353662.1:c.347G>C, NM_001353669.2:c.347G>C, NM_001353669.1:c.347G>C, NM_001353670.2:c.347G>C, NM_001353670.1:c.347G>C, NM_001242417.2:c.959G>C, NM_001242417.1:c.959G>C, NM_001353666.2:c.347G>C, NM_001353666.1:c.347G>C, NM_001353660.2:c.716G>C, NM_001353660.1:c.716G>C, NM_001353663.2:c.347G>C, NM_001353663.1:c.347G>C, NM_001242418.2:c.902G>C, NM_001242418.1:c.902G>C, NM_001353668.2:c.347G>C, NM_001353668.1:c.347G>C, NM_001353661.2:c.473G>C, NM_001353661.1:c.473G>C, NM_001242416.2:c.683G>C, NM_001242416.1:c.683G>C, NM_001353664.2:c.347G>C, NM_001353664.1:c.347G>C, NM_001353673.2:c.347G>C, NM_001353673.1:c.347G>C, NM_001353675.2:c.95G>C, NM_001353675.1:c.95G>C, NM_001353672.2:c.347G>C, NM_001353672.1:c.347G>C, NM_001353659.2:c.719G>C, NM_001353659.1:c.719G>C, NM_001353677.2:c.95G>C, NM_001353677.1:c.95G>C, NM_001242414.2:c.*435G>C, NM_001242414.1:c.*435G>C, NM_001353674.2:c.347G>C, NM_001353674.1:c.347G>C, NM_001353665.2:c.347G>C, NM_001353665.1:c.347G>C, NR_038354.2:n.686G>C, NR_038354.1:n.731G>C, XM_006720310.2:c.347G>C, XM_006720310.1:c.347G>C, NM_001353676.2:c.95G>C, NM_001353676.1:c.95G>C, NM_001353671.2:c.347G>C, NM_001353671.1:c.347G>C, XM_011537343.2:c.809G>C, XM_011537343.1:c.809G>C, NM_001353678.2:c.95G>C, NM_001353678.1:c.95G>C, XM_024449743.2:c.347G>C, XM_024449743.1:c.347G>C, XM_011537338.2:c.959G>C, XM_011537338.1:c.959G>C, XM_024449742.2:c.347G>C, XM_024449742.1:c.347G>C, XM_011537346.2:c.347G>C, XM_011537346.1:c.347G>C, XM_006720308.2:c.683G>C, XM_006720308.1:c.683G>C, XM_047431924.1:c.902G>C, XM_047431925.1:c.683G>C, XM_047431926.1:c.719G>C, NM_181302.1:c.494G>C, XM_047431932.1:c.*160G>C, XM_047431927.1:c.557G>C, XM_047431933.1:c.*160G>C, XM_047431928.1:c.347G>C, NP_653175.2:p.Trp289Ser, XP_011535642.1:p.Trp332Ser, XP_011535646.1:p.Trp239Ser, XP_011535638.1:p.Trp332Ser, XP_011535637.1:p.Trp332Ser, XP_011535639.1:p.Trp332Ser, NP_001317157.1:p.Trp320Ser, NP_851808.1:p.Trp289Ser, NP_851825.1:p.Trp228Ser, XP_011535641.1:p.Trp332Ser, XP_011535643.1:p.Trp301Ser, XP_011535647.1:p.Trp165Ser, XP_016877274.1:p.Trp320Ser, NP_001340586.1:p.Trp289Ser, NP_001340585.1:p.Trp289Ser, NP_001340596.1:p.Trp116Ser, NP_001340587.1:p.Trp239Ser, XP_016877256.1:p.Trp301Ser, NP_001340591.1:p.Trp116Ser, NP_001340598.1:p.Trp116Ser, NP_001340599.1:p.Trp116Ser, NP_001229346.1:p.Trp320Ser, NP_001340595.1:p.Trp116Ser, NP_001340589.1:p.Trp239Ser, NP_001340592.1:p.Trp116Ser, NP_001229347.1:p.Trp301Ser, NP_001340597.1:p.Trp116Ser, NP_001340590.1:p.Trp158Ser, NP_001229345.1:p.Trp228Ser, NP_001340593.1:p.Trp116Ser, NP_001340602.1:p.Trp116Ser, NP_001340604.1:p.Trp32Ser, NP_001340601.1:p.Trp116Ser, NP_001340588.1:p.Trp240Ser, NP_001340606.1:p.Trp32Ser, NP_001340603.1:p.Trp116Ser, NP_001340594.1:p.Trp116Ser, XP_006720373.1:p.Trp116Ser, NP_001340605.1:p.Trp32Ser, NP_001340600.1:p.Trp116Ser, XP_011535645.1:p.Trp270Ser, NP_001340607.1:p.Trp32Ser, XP_024305511.1:p.Trp116Ser, XP_011535640.1:p.Trp320Ser, XP_024305510.1:p.Trp116Ser, XP_011535648.1:p.Trp116Ser, XP_006720371.1:p.Trp228Ser, XP_047287880.1:p.Trp301Ser, XP_047287881.1:p.Trp228Ser, XP_047287882.1:p.Trp240Ser, XP_047287883.1:p.Trp186Ser, XP_047287884.1:p.Trp116Ser

                                    18.

                                    rs1462674622 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:102195036 (GRCh38)
                                      14:102661373 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:102195035:C:T
                                      Gene:
                                      WDR20 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000019/5 (TOPMED)
                                      HGVS:
                                      NC_000014.9:g.102195036C>T, NC_000014.8:g.102661373C>T, NM_144574.4:c.348C>T, NM_144574.3:c.348C>T, XM_011537353.4:c.384C>T, XM_011537353.3:c.384C>T, XM_011537353.2:c.384C>T, XM_011537353.1:c.384C>T, XM_011537340.4:c.384C>T, XM_011537340.3:c.384C>T, XM_011537340.2:c.384C>T, XM_011537340.1:c.384C>T, XM_011537344.4:c.198C>T, XM_011537344.3:c.198C>T, XM_011537344.2:c.198C>T, XM_011537344.1:c.198C>T, XM_011537352.4:c.384C>T, XM_011537352.3:c.384C>T, XM_011537352.2:c.384C>T, XM_011537352.1:c.384C>T, XM_011537356.4:c.384C>T, XM_011537356.3:c.384C>T, XM_011537356.2:c.384C>T, XM_011537356.1:c.384C>T, XM_011537336.3:c.384C>T, XM_011537336.2:c.384C>T, XM_011537336.1:c.384C>T, XM_011537335.3:c.384C>T, XM_011537335.2:c.384C>T, XM_011537335.1:c.384C>T, XM_011537337.3:c.384C>T, XM_011537337.2:c.384C>T, XM_011537337.1:c.384C>T, NM_001330228.3:c.348C>T, NM_001330228.2:c.348C>T, NM_001330228.1:c.348C>T, NM_181291.3:c.348C>T, NM_181291.2:c.348C>T, XM_011537339.3:c.384C>T, XM_011537339.2:c.384C>T, XM_011537339.1:c.384C>T, XM_011537341.3:c.384C>T, XM_011537341.2:c.384C>T, XM_011537341.1:c.384C>T, XM_017021785.2:c.348C>T, XM_017021785.1:c.348C>T, NM_001353657.2:c.348C>T, NM_001353657.1:c.348C>T, NM_001242415.2:c.348C>T, NM_001242415.1:c.348C>T, NM_001353656.2:c.348C>T, NM_001353656.1:c.348C>T, NM_001353667.2:c.-265C>T, NM_001353667.1:c.-265C>T, NM_001353658.2:c.198C>T, NM_001353658.1:c.198C>T, XM_017021767.2:c.384C>T, XM_017021767.1:c.384C>T, NM_001353662.2:c.-172C>T, NM_001353662.1:c.-172C>T, NM_001353669.2:c.-172C>T, NM_001353669.1:c.-172C>T, NM_001353670.2:c.-265C>T, NM_001353670.1:c.-265C>T, NM_001242417.2:c.348C>T, NM_001242417.1:c.348C>T, NM_001353666.2:c.-265C>T, NM_001353666.1:c.-265C>T, NM_001353660.2:c.198C>T, NM_001353660.1:c.198C>T, NM_001353663.2:c.-172C>T, NM_001353663.1:c.-172C>T, NM_001242418.2:c.384C>T, NM_001242418.1:c.384C>T, NM_001353668.2:c.-172C>T, NM_001353668.1:c.-172C>T, NM_001353661.2:c.-77C>T, NM_001353661.1:c.-77C>T, NM_001353664.2:c.-172C>T, NM_001353664.1:c.-172C>T, NM_001353673.2:c.-265C>T, NM_001353673.1:c.-265C>T, NM_001353675.2:c.-165C>T, NM_001353675.1:c.-165C>T, NM_001353672.2:c.-265C>T, NM_001353672.1:c.-265C>T, NM_001353677.2:c.-258C>T, NM_001353677.1:c.-258C>T, NM_001353674.2:c.-172C>T, NM_001353674.1:c.-172C>T, NR_038354.2:n.427C>T, NR_038354.1:n.472C>T, XM_006720310.2:c.-172C>T, XM_006720310.1:c.-172C>T, NM_001353676.2:c.-165C>T, NM_001353676.1:c.-165C>T, XM_011537343.2:c.198C>T, XM_011537343.1:c.198C>T, NM_001353678.2:c.-165C>T, NM_001353678.1:c.-165C>T, XM_024449743.2:c.-265C>T, XM_024449743.1:c.-265C>T, XM_011537338.2:c.348C>T, XM_011537338.1:c.348C>T, XM_024449742.2:c.-172C>T, XM_024449742.1:c.-172C>T, XM_011537346.2:c.-172C>T, XM_011537346.1:c.-172C>T, NM_001353679.2:c.348C>T, NM_001353679.1:c.348C>T, NM_001320130.2:c.348C>T, NM_001320130.1:c.348C>T, NR_148510.2:n.190C>T, NR_148510.1:n.235C>T, XM_047431930.1:c.384C>T, XM_047431924.1:c.384C>T, XM_047431926.1:c.201C>T, XM_047431932.1:c.348C>T, XM_047431933.1:c.348C>T, XM_047431929.1:c.384C>T, XM_047431931.1:c.384C>T

                                      19.

                                      rs1458273911 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        14:102208984 (GRCh38)
                                        14:102675321 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:102208983:C:G
                                        Gene:
                                        WDR20 (Varview), LOC105370677 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.102208984C>G, NC_000014.8:g.102675321C>G, NM_144574.4:c.814C>G, NM_144574.3:c.814C>G, XM_011537353.4:c.*108C>G, XM_011537353.3:c.*108C>G, XM_011537353.2:c.*108C>G, XM_011537353.1:c.*108C>G, XM_011537340.4:c.943C>G, XM_011537340.3:c.943C>G, XM_011537340.2:c.943C>G, XM_011537340.1:c.943C>G, XM_011537344.4:c.664C>G, XM_011537344.3:c.664C>G, XM_011537344.2:c.664C>G, XM_011537344.1:c.664C>G, XM_011537336.3:c.943C>G, XM_011537336.2:c.943C>G, XM_011537336.1:c.943C>G, XM_011537335.3:c.943C>G, XM_011537335.2:c.943C>G, XM_011537335.1:c.943C>G, XM_011537337.3:c.943C>G, XM_011537337.2:c.943C>G, XM_011537337.1:c.943C>G, NM_001330228.3:c.907C>G, NM_001330228.2:c.907C>G, NM_001330228.1:c.907C>G, NM_181291.3:c.814C>G, NM_181291.2:c.814C>G, NM_181308.3:c.631C>G, NM_181308.2:c.631C>G, XM_011537339.3:c.943C>G, XM_011537339.2:c.943C>G, XM_011537339.1:c.943C>G, XM_011537341.3:c.850C>G, XM_011537341.2:c.850C>G, XM_011537341.1:c.850C>G, XM_011537345.3:c.442C>G, XM_011537345.2:c.442C>G, XM_011537345.1:c.442C>G, XM_017021785.2:c.907C>G, XM_017021785.1:c.907C>G, NM_001353657.2:c.814C>G, NM_001353657.1:c.814C>G, NM_001353656.2:c.814C>G, NM_001353656.1:c.814C>G, NM_001353667.2:c.295C>G, NM_001353667.1:c.295C>G, NM_001353658.2:c.664C>G, NM_001353658.1:c.664C>G, XM_017021767.2:c.850C>G, XM_017021767.1:c.850C>G, NM_001353662.2:c.295C>G, NM_001353662.1:c.295C>G, NM_001353669.2:c.295C>G, NM_001353669.1:c.295C>G, NM_001353670.2:c.295C>G, NM_001353670.1:c.295C>G, NM_001242417.2:c.907C>G, NM_001242417.1:c.907C>G, NM_001353666.2:c.295C>G, NM_001353666.1:c.295C>G, NM_001353660.2:c.664C>G, NM_001353660.1:c.664C>G, NM_001353663.2:c.295C>G, NM_001353663.1:c.295C>G, NM_001242418.2:c.850C>G, NM_001242418.1:c.850C>G, NM_001353668.2:c.295C>G, NM_001353668.1:c.295C>G, NM_001353661.2:c.421C>G, NM_001353661.1:c.421C>G, NM_001242416.2:c.631C>G, NM_001242416.1:c.631C>G, NM_001353664.2:c.295C>G, NM_001353664.1:c.295C>G, NM_001353673.2:c.295C>G, NM_001353673.1:c.295C>G, NM_001353675.2:c.43C>G, NM_001353675.1:c.43C>G, NM_001353672.2:c.295C>G, NM_001353672.1:c.295C>G, NM_001353659.2:c.667C>G, NM_001353659.1:c.667C>G, NM_001353677.2:c.43C>G, NM_001353677.1:c.43C>G, NM_001242414.2:c.*383C>G, NM_001242414.1:c.*383C>G, NM_001353674.2:c.295C>G, NM_001353674.1:c.295C>G, NM_001353665.2:c.295C>G, NM_001353665.1:c.295C>G, NR_038354.2:n.634C>G, NR_038354.1:n.679C>G, XM_006720310.2:c.295C>G, XM_006720310.1:c.295C>G, NM_001353676.2:c.43C>G, NM_001353676.1:c.43C>G, NM_001353671.2:c.295C>G, NM_001353671.1:c.295C>G, XM_011537343.2:c.757C>G, XM_011537343.1:c.757C>G, NM_001353678.2:c.43C>G, NM_001353678.1:c.43C>G, XM_024449743.2:c.295C>G, XM_024449743.1:c.295C>G, XM_011537338.2:c.907C>G, XM_011537338.1:c.907C>G, XM_024449742.2:c.295C>G, XM_024449742.1:c.295C>G, XM_011537346.2:c.295C>G, XM_011537346.1:c.295C>G, XM_006720308.2:c.631C>G, XM_006720308.1:c.631C>G, XM_047431924.1:c.850C>G, XM_047431925.1:c.631C>G, XM_047431926.1:c.667C>G, NM_181302.1:c.442C>G, XM_047431932.1:c.*108C>G, XM_047431927.1:c.505C>G, XM_047431933.1:c.*108C>G, XM_047431928.1:c.295C>G, NP_653175.2:p.Pro272Ala, XP_011535642.1:p.Pro315Ala, XP_011535646.1:p.Pro222Ala, XP_011535638.1:p.Pro315Ala, XP_011535637.1:p.Pro315Ala, XP_011535639.1:p.Pro315Ala, NP_001317157.1:p.Pro303Ala, NP_851808.1:p.Pro272Ala, NP_851825.1:p.Pro211Ala, XP_011535641.1:p.Pro315Ala, XP_011535643.1:p.Pro284Ala, XP_011535647.1:p.Pro148Ala, XP_016877274.1:p.Pro303Ala, NP_001340586.1:p.Pro272Ala, NP_001340585.1:p.Pro272Ala, NP_001340596.1:p.Pro99Ala, NP_001340587.1:p.Pro222Ala, XP_016877256.1:p.Pro284Ala, NP_001340591.1:p.Pro99Ala, NP_001340598.1:p.Pro99Ala, NP_001340599.1:p.Pro99Ala, NP_001229346.1:p.Pro303Ala, NP_001340595.1:p.Pro99Ala, NP_001340589.1:p.Pro222Ala, NP_001340592.1:p.Pro99Ala, NP_001229347.1:p.Pro284Ala, NP_001340597.1:p.Pro99Ala, NP_001340590.1:p.Pro141Ala, NP_001229345.1:p.Pro211Ala, NP_001340593.1:p.Pro99Ala, NP_001340602.1:p.Pro99Ala, NP_001340604.1:p.Pro15Ala, NP_001340601.1:p.Pro99Ala, NP_001340588.1:p.Pro223Ala, NP_001340606.1:p.Pro15Ala, NP_001340603.1:p.Pro99Ala, NP_001340594.1:p.Pro99Ala, XP_006720373.1:p.Pro99Ala, NP_001340605.1:p.Pro15Ala, NP_001340600.1:p.Pro99Ala, XP_011535645.1:p.Pro253Ala, NP_001340607.1:p.Pro15Ala, XP_024305511.1:p.Pro99Ala, XP_011535640.1:p.Pro303Ala, XP_024305510.1:p.Pro99Ala, XP_011535648.1:p.Pro99Ala, XP_006720371.1:p.Pro211Ala, XP_047287880.1:p.Pro284Ala, XP_047287881.1:p.Pro211Ala, XP_047287882.1:p.Pro223Ala, XP_047287883.1:p.Pro169Ala, XP_047287884.1:p.Pro99Ala

                                        20.

                                        rs1457343182 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:102209116 (GRCh38)
                                          14:102675453 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:102209115:A:G
                                          Gene:
                                          WDR20 (Varview), LOC105370677 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000047/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.102209116A>G, NC_000014.8:g.102675453A>G, NM_144574.4:c.946A>G, NM_144574.3:c.946A>G, XM_011537353.4:c.*240A>G, XM_011537353.3:c.*240A>G, XM_011537353.2:c.*240A>G, XM_011537353.1:c.*240A>G, XM_011537340.4:c.1075A>G, XM_011537340.3:c.1075A>G, XM_011537340.2:c.1075A>G, XM_011537340.1:c.1075A>G, XM_011537344.4:c.796A>G, XM_011537344.3:c.796A>G, XM_011537344.2:c.796A>G, XM_011537344.1:c.796A>G, XM_011537336.3:c.1075A>G, XM_011537336.2:c.1075A>G, XM_011537336.1:c.1075A>G, XM_011537335.3:c.1075A>G, XM_011537335.2:c.1075A>G, XM_011537335.1:c.1075A>G, XM_011537337.3:c.1075A>G, XM_011537337.2:c.1075A>G, XM_011537337.1:c.1075A>G, NM_001330228.3:c.1039A>G, NM_001330228.2:c.1039A>G, NM_001330228.1:c.1039A>G, NM_181291.3:c.946A>G, NM_181291.2:c.946A>G, NM_181308.3:c.763A>G, NM_181308.2:c.763A>G, XM_011537339.3:c.1075A>G, XM_011537339.2:c.1075A>G, XM_011537339.1:c.1075A>G, XM_011537341.3:c.982A>G, XM_011537341.2:c.982A>G, XM_011537341.1:c.982A>G, XM_011537345.3:c.574A>G, XM_011537345.2:c.574A>G, XM_011537345.1:c.574A>G, XM_017021785.2:c.1039A>G, XM_017021785.1:c.1039A>G, NM_001353657.2:c.946A>G, NM_001353657.1:c.946A>G, NM_001353656.2:c.946A>G, NM_001353656.1:c.946A>G, NM_001353667.2:c.427A>G, NM_001353667.1:c.427A>G, NM_001353658.2:c.796A>G, NM_001353658.1:c.796A>G, XM_017021767.2:c.982A>G, XM_017021767.1:c.982A>G, NM_001353662.2:c.427A>G, NM_001353662.1:c.427A>G, NM_001353669.2:c.427A>G, NM_001353669.1:c.427A>G, NM_001353670.2:c.427A>G, NM_001353670.1:c.427A>G, NM_001242417.2:c.1039A>G, NM_001242417.1:c.1039A>G, NM_001353666.2:c.427A>G, NM_001353666.1:c.427A>G, NM_001353660.2:c.796A>G, NM_001353660.1:c.796A>G, NM_001353663.2:c.427A>G, NM_001353663.1:c.427A>G, NM_001242418.2:c.982A>G, NM_001242418.1:c.982A>G, NM_001353668.2:c.427A>G, NM_001353668.1:c.427A>G, NM_001353661.2:c.553A>G, NM_001353661.1:c.553A>G, NM_001242416.2:c.763A>G, NM_001242416.1:c.763A>G, NM_001353664.2:c.427A>G, NM_001353664.1:c.427A>G, NM_001353673.2:c.427A>G, NM_001353673.1:c.427A>G, NM_001353675.2:c.175A>G, NM_001353675.1:c.175A>G, NM_001353672.2:c.427A>G, NM_001353672.1:c.427A>G, NM_001353659.2:c.799A>G, NM_001353659.1:c.799A>G, NM_001353677.2:c.175A>G, NM_001353677.1:c.175A>G, NM_001242414.2:c.*515A>G, NM_001242414.1:c.*515A>G, NM_001353674.2:c.427A>G, NM_001353674.1:c.427A>G, NM_001353665.2:c.427A>G, NM_001353665.1:c.427A>G, NR_038354.2:n.766A>G, NR_038354.1:n.811A>G, XM_006720310.2:c.427A>G, XM_006720310.1:c.427A>G, NM_001353676.2:c.175A>G, NM_001353676.1:c.175A>G, NM_001353671.2:c.427A>G, NM_001353671.1:c.427A>G, XM_011537343.2:c.889A>G, XM_011537343.1:c.889A>G, NM_001353678.2:c.175A>G, NM_001353678.1:c.175A>G, XM_024449743.2:c.427A>G, XM_024449743.1:c.427A>G, XM_011537338.2:c.1039A>G, XM_011537338.1:c.1039A>G, XM_024449742.2:c.427A>G, XM_024449742.1:c.427A>G, XM_011537346.2:c.427A>G, XM_011537346.1:c.427A>G, XM_006720308.2:c.763A>G, XM_006720308.1:c.763A>G, XM_047431924.1:c.982A>G, XM_047431925.1:c.763A>G, XM_047431926.1:c.799A>G, NM_181302.1:c.574A>G, XM_047431932.1:c.*240A>G, XM_047431927.1:c.637A>G, XM_047431933.1:c.*240A>G, XM_047431928.1:c.427A>G, NP_653175.2:p.Thr316Ala, XP_011535642.1:p.Thr359Ala, XP_011535646.1:p.Thr266Ala, XP_011535638.1:p.Thr359Ala, XP_011535637.1:p.Thr359Ala, XP_011535639.1:p.Thr359Ala, NP_001317157.1:p.Thr347Ala, NP_851808.1:p.Thr316Ala, NP_851825.1:p.Thr255Ala, XP_011535641.1:p.Thr359Ala, XP_011535643.1:p.Thr328Ala, XP_011535647.1:p.Thr192Ala, XP_016877274.1:p.Thr347Ala, NP_001340586.1:p.Thr316Ala, NP_001340585.1:p.Thr316Ala, NP_001340596.1:p.Thr143Ala, NP_001340587.1:p.Thr266Ala, XP_016877256.1:p.Thr328Ala, NP_001340591.1:p.Thr143Ala, NP_001340598.1:p.Thr143Ala, NP_001340599.1:p.Thr143Ala, NP_001229346.1:p.Thr347Ala, NP_001340595.1:p.Thr143Ala, NP_001340589.1:p.Thr266Ala, NP_001340592.1:p.Thr143Ala, NP_001229347.1:p.Thr328Ala, NP_001340597.1:p.Thr143Ala, NP_001340590.1:p.Thr185Ala, NP_001229345.1:p.Thr255Ala, NP_001340593.1:p.Thr143Ala, NP_001340602.1:p.Thr143Ala, NP_001340604.1:p.Thr59Ala, NP_001340601.1:p.Thr143Ala, NP_001340588.1:p.Thr267Ala, NP_001340606.1:p.Thr59Ala, NP_001340603.1:p.Thr143Ala, NP_001340594.1:p.Thr143Ala, XP_006720373.1:p.Thr143Ala, NP_001340605.1:p.Thr59Ala, NP_001340600.1:p.Thr143Ala, XP_011535645.1:p.Thr297Ala, NP_001340607.1:p.Thr59Ala, XP_024305511.1:p.Thr143Ala, XP_011535640.1:p.Thr347Ala, XP_024305510.1:p.Thr143Ala, XP_011535648.1:p.Thr143Ala, XP_006720371.1:p.Thr255Ala, XP_047287880.1:p.Thr328Ala, XP_047287881.1:p.Thr255Ala, XP_047287882.1:p.Thr267Ala, XP_047287883.1:p.Thr213Ala, XP_047287884.1:p.Thr143Ala

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