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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.

    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

      3.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      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

                        12.

                        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

                          13.

                          rs1454116478 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:102208917 (GRCh38)
                            14:102675254 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:102208916:T:C
                            Gene:
                            WDR20 (Varview), LOC105370677 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000014.9:g.102208917T>C, NC_000014.8:g.102675254T>C, NM_144574.4:c.747T>C, NM_144574.3:c.747T>C, XM_011537353.4:c.*41T>C, XM_011537353.3:c.*41T>C, XM_011537353.2:c.*41T>C, XM_011537353.1:c.*41T>C, XM_011537340.4:c.876T>C, XM_011537340.3:c.876T>C, XM_011537340.2:c.876T>C, XM_011537340.1:c.876T>C, XM_011537344.4:c.597T>C, XM_011537344.3:c.597T>C, XM_011537344.2:c.597T>C, XM_011537344.1:c.597T>C, XM_011537336.3:c.876T>C, XM_011537336.2:c.876T>C, XM_011537336.1:c.876T>C, XM_011537335.3:c.876T>C, XM_011537335.2:c.876T>C, XM_011537335.1:c.876T>C, XM_011537337.3:c.876T>C, XM_011537337.2:c.876T>C, XM_011537337.1:c.876T>C, NM_001330228.3:c.840T>C, NM_001330228.2:c.840T>C, NM_001330228.1:c.840T>C, NM_181291.3:c.747T>C, NM_181291.2:c.747T>C, NM_181308.3:c.564T>C, NM_181308.2:c.564T>C, XM_011537339.3:c.876T>C, XM_011537339.2:c.876T>C, XM_011537339.1:c.876T>C, XM_011537341.3:c.783T>C, XM_011537341.2:c.783T>C, XM_011537341.1:c.783T>C, XM_011537345.3:c.375T>C, XM_011537345.2:c.375T>C, XM_011537345.1:c.375T>C, XM_017021785.2:c.840T>C, XM_017021785.1:c.840T>C, NM_001353657.2:c.747T>C, NM_001353657.1:c.747T>C, NM_001353656.2:c.747T>C, NM_001353656.1:c.747T>C, NM_001353667.2:c.228T>C, NM_001353667.1:c.228T>C, NM_001353658.2:c.597T>C, NM_001353658.1:c.597T>C, XM_017021767.2:c.783T>C, XM_017021767.1:c.783T>C, NM_001353662.2:c.228T>C, NM_001353662.1:c.228T>C, NM_001353669.2:c.228T>C, NM_001353669.1:c.228T>C, NM_001353670.2:c.228T>C, NM_001353670.1:c.228T>C, NM_001242417.2:c.840T>C, NM_001242417.1:c.840T>C, NM_001353666.2:c.228T>C, NM_001353666.1:c.228T>C, NM_001353660.2:c.597T>C, NM_001353660.1:c.597T>C, NM_001353663.2:c.228T>C, NM_001353663.1:c.228T>C, NM_001242418.2:c.783T>C, NM_001242418.1:c.783T>C, NM_001353668.2:c.228T>C, NM_001353668.1:c.228T>C, NM_001353661.2:c.354T>C, NM_001353661.1:c.354T>C, NM_001242416.2:c.564T>C, NM_001242416.1:c.564T>C, NM_001353664.2:c.228T>C, NM_001353664.1:c.228T>C, NM_001353673.2:c.228T>C, NM_001353673.1:c.228T>C, NM_001353675.2:c.-25T>C, NM_001353675.1:c.-25T>C, NM_001353672.2:c.228T>C, NM_001353672.1:c.228T>C, NM_001353659.2:c.600T>C, NM_001353659.1:c.600T>C, NM_001353677.2:c.-25T>C, NM_001353677.1:c.-25T>C, NM_001242414.2:c.*316T>C, NM_001242414.1:c.*316T>C, NM_001353674.2:c.228T>C, NM_001353674.1:c.228T>C, NM_001353665.2:c.228T>C, NM_001353665.1:c.228T>C, NR_038354.2:n.567T>C, NR_038354.1:n.612T>C, XM_006720310.2:c.228T>C, XM_006720310.1:c.228T>C, NM_001353676.2:c.-25T>C, NM_001353676.1:c.-25T>C, NM_001353671.2:c.228T>C, NM_001353671.1:c.228T>C, XM_011537343.2:c.690T>C, XM_011537343.1:c.690T>C, NM_001353678.2:c.-25T>C, NM_001353678.1:c.-25T>C, XM_024449743.2:c.228T>C, XM_024449743.1:c.228T>C, XM_011537338.2:c.840T>C, XM_011537338.1:c.840T>C, XM_024449742.2:c.228T>C, XM_024449742.1:c.228T>C, XM_011537346.2:c.228T>C, XM_011537346.1:c.228T>C, XM_006720308.2:c.564T>C, XM_006720308.1:c.564T>C, XM_047431924.1:c.783T>C, XM_047431925.1:c.564T>C, XM_047431926.1:c.600T>C, NM_181302.1:c.375T>C, XM_047431932.1:c.*41T>C, XM_047431927.1:c.438T>C, XM_047431933.1:c.*41T>C, XM_047431928.1:c.228T>C

                            14.

                            rs1454048012 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              14:102209682 (GRCh38)
                              14:102676019 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:102209681:C:T
                              Gene:
                              WDR20 (Varview), LOC105370677 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000014.9:g.102209682C>T, NC_000014.8:g.102676019C>T, NM_144574.4:c.1512C>T, NM_144574.3:c.1512C>T, XM_011537353.4:c.*806C>T, XM_011537353.3:c.*806C>T, XM_011537353.2:c.*806C>T, XM_011537353.1:c.*806C>T, XM_011537340.4:c.1641C>T, XM_011537340.3:c.1641C>T, XM_011537340.2:c.1641C>T, XM_011537340.1:c.1641C>T, XM_011537344.4:c.1362C>T, XM_011537344.3:c.1362C>T, XM_011537344.2:c.1362C>T, XM_011537344.1:c.1362C>T, XM_011537336.3:c.1641C>T, XM_011537336.2:c.1641C>T, XM_011537336.1:c.1641C>T, XM_011537335.3:c.1641C>T, XM_011537335.2:c.1641C>T, XM_011537335.1:c.1641C>T, XM_011537337.3:c.1641C>T, XM_011537337.2:c.1641C>T, XM_011537337.1:c.1641C>T, NM_001330228.3:c.1605C>T, NM_001330228.2:c.1605C>T, NM_001330228.1:c.1605C>T, NM_181291.3:c.1512C>T, NM_181291.2:c.1512C>T, NM_181308.3:c.1329C>T, NM_181308.2:c.1329C>T, XM_011537339.3:c.1641C>T, XM_011537339.2:c.1641C>T, XM_011537339.1:c.1641C>T, XM_011537341.3:c.1548C>T, XM_011537341.2:c.1548C>T, XM_011537341.1:c.1548C>T, XM_011537345.3:c.1140C>T, XM_011537345.2:c.1140C>T, XM_011537345.1:c.1140C>T, XM_017021785.2:c.1605C>T, XM_017021785.1:c.1605C>T, NM_001353657.2:c.1512C>T, NM_001353657.1:c.1512C>T, NM_001353656.2:c.1512C>T, NM_001353656.1:c.1512C>T, NM_001353667.2:c.993C>T, NM_001353667.1:c.993C>T, NM_001353658.2:c.1362C>T, NM_001353658.1:c.1362C>T, XM_017021767.2:c.1548C>T, XM_017021767.1:c.1548C>T, NM_001353662.2:c.993C>T, NM_001353662.1:c.993C>T, NM_001353669.2:c.993C>T, NM_001353669.1:c.993C>T, NM_001353670.2:c.993C>T, NM_001353670.1:c.993C>T, NM_001242417.2:c.1605C>T, NM_001242417.1:c.1605C>T, NM_001353666.2:c.993C>T, NM_001353666.1:c.993C>T, NM_001353660.2:c.1362C>T, NM_001353660.1:c.1362C>T, NM_001353663.2:c.993C>T, NM_001353663.1:c.993C>T, NM_001242418.2:c.1548C>T, NM_001242418.1:c.1548C>T, NM_001353668.2:c.993C>T, NM_001353668.1:c.993C>T, NM_001353661.2:c.1119C>T, NM_001353661.1:c.1119C>T, NM_001242416.2:c.1329C>T, NM_001242416.1:c.1329C>T, NM_001353664.2:c.993C>T, NM_001353664.1:c.993C>T, NM_001353673.2:c.993C>T, NM_001353673.1:c.993C>T, NM_001353675.2:c.741C>T, NM_001353675.1:c.741C>T, NM_001353672.2:c.993C>T, NM_001353672.1:c.993C>T, NM_001353659.2:c.1365C>T, NM_001353659.1:c.1365C>T, NM_001353677.2:c.741C>T, NM_001353677.1:c.741C>T, NM_001242414.2:c.*1081C>T, NM_001242414.1:c.*1081C>T, NM_001353674.2:c.993C>T, NM_001353674.1:c.993C>T, NM_001353665.2:c.993C>T, NM_001353665.1:c.993C>T, NR_038354.2:n.1332C>T, NR_038354.1:n.1377C>T, XM_006720310.2:c.993C>T, XM_006720310.1:c.993C>T, NM_001353676.2:c.741C>T, NM_001353676.1:c.741C>T, NM_001353671.2:c.993C>T, NM_001353671.1:c.993C>T, XM_011537343.2:c.1455C>T, XM_011537343.1:c.1455C>T, NM_001353678.2:c.741C>T, NM_001353678.1:c.741C>T, XM_024449743.2:c.993C>T, XM_024449743.1:c.993C>T, XM_011537338.2:c.1605C>T, XM_011537338.1:c.1605C>T, XM_024449742.2:c.993C>T, XM_024449742.1:c.993C>T, XM_011537346.2:c.993C>T, XM_011537346.1:c.993C>T, XM_006720308.2:c.1329C>T, XM_006720308.1:c.1329C>T, XM_047431924.1:c.1548C>T, XM_047431925.1:c.1329C>T, XM_047431926.1:c.1365C>T, NM_181302.1:c.1140C>T, XM_047431932.1:c.*806C>T, XM_047431927.1:c.1203C>T, XM_047431933.1:c.*806C>T, XM_047431928.1:c.993C>T

                              15.

                              rs1450692096 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:102208718 (GRCh38)
                                14:102675055 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:102208717:G:A
                                Gene:
                                WDR20 (Varview), LOC105370677 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant,missense_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.00005/1 (ALFA)
                                HGVS:
                                NC_000014.9:g.102208718G>A, NC_000014.8:g.102675055G>A, NM_144574.4:c.548G>A, NM_144574.3:c.548G>A, XM_011537340.4:c.677G>A, XM_011537340.3:c.677G>A, XM_011537340.2:c.677G>A, XM_011537340.1:c.677G>A, XM_011537344.4:c.398G>A, XM_011537344.3:c.398G>A, XM_011537344.2:c.398G>A, XM_011537344.1:c.398G>A, XM_011537336.3:c.677G>A, XM_011537336.2:c.677G>A, XM_011537336.1:c.677G>A, XM_011537335.3:c.677G>A, XM_011537335.2:c.677G>A, XM_011537335.1:c.677G>A, XM_011537337.3:c.677G>A, XM_011537337.2:c.677G>A, XM_011537337.1:c.677G>A, NM_001330228.3:c.641G>A, NM_001330228.2:c.641G>A, NM_001330228.1:c.641G>A, NM_181291.3:c.548G>A, NM_181291.2:c.548G>A, NM_181308.3:c.365G>A, NM_181308.2:c.365G>A, XM_011537339.3:c.677G>A, XM_011537339.2:c.677G>A, XM_011537339.1:c.677G>A, XM_011537341.3:c.584G>A, XM_011537341.2:c.584G>A, XM_011537341.1:c.584G>A, XM_011537345.3:c.176G>A, XM_011537345.2:c.176G>A, XM_011537345.1:c.176G>A, XM_017021785.2:c.641G>A, XM_017021785.1:c.641G>A, NM_001353657.2:c.548G>A, NM_001353657.1:c.548G>A, NM_001353656.2:c.548G>A, NM_001353656.1:c.548G>A, NM_001353667.2:c.29G>A, NM_001353667.1:c.29G>A, NM_001353658.2:c.398G>A, NM_001353658.1:c.398G>A, XM_017021767.2:c.584G>A, XM_017021767.1:c.584G>A, NM_001353662.2:c.29G>A, NM_001353662.1:c.29G>A, NM_001353669.2:c.29G>A, NM_001353669.1:c.29G>A, NM_001353670.2:c.29G>A, NM_001353670.1:c.29G>A, NM_001242417.2:c.641G>A, NM_001242417.1:c.641G>A, NM_001353666.2:c.29G>A, NM_001353666.1:c.29G>A, NM_001353660.2:c.398G>A, NM_001353660.1:c.398G>A, NM_001353663.2:c.29G>A, NM_001353663.1:c.29G>A, NM_001242418.2:c.584G>A, NM_001242418.1:c.584G>A, NM_001353668.2:c.29G>A, NM_001353668.1:c.29G>A, NM_001353661.2:c.155G>A, NM_001353661.1:c.155G>A, NM_001242416.2:c.365G>A, NM_001242416.1:c.365G>A, NM_001353664.2:c.29G>A, NM_001353664.1:c.29G>A, NM_001353673.2:c.29G>A, NM_001353673.1:c.29G>A, NM_001353672.2:c.29G>A, NM_001353672.1:c.29G>A, NM_001353659.2:c.401G>A, NM_001353659.1:c.401G>A, NM_001242414.2:c.*117G>A, NM_001242414.1:c.*117G>A, NM_001353674.2:c.29G>A, NM_001353674.1:c.29G>A, NM_001353665.2:c.29G>A, NM_001353665.1:c.29G>A, XM_006720310.2:c.29G>A, XM_006720310.1:c.29G>A, NM_001353671.2:c.29G>A, NM_001353671.1:c.29G>A, XM_011537343.2:c.491G>A, XM_011537343.1:c.491G>A, XM_024449743.2:c.29G>A, XM_024449743.1:c.29G>A, XM_011537338.2:c.641G>A, XM_011537338.1:c.641G>A, XM_024449742.2:c.29G>A, XM_024449742.1:c.29G>A, XM_011537346.2:c.29G>A, XM_011537346.1:c.29G>A, XM_006720308.2:c.365G>A, XM_006720308.1:c.365G>A, XM_047431924.1:c.584G>A, XM_047431925.1:c.365G>A, XM_047431926.1:c.401G>A, NM_181302.1:c.176G>A, XM_047431927.1:c.239G>A, XM_047431928.1:c.29G>A, NP_653175.2:p.Cys183Tyr, XP_011535642.1:p.Cys226Tyr, XP_011535646.1:p.Cys133Tyr, XP_011535638.1:p.Cys226Tyr, XP_011535637.1:p.Cys226Tyr, XP_011535639.1:p.Cys226Tyr, NP_001317157.1:p.Cys214Tyr, NP_851808.1:p.Cys183Tyr, NP_851825.1:p.Cys122Tyr, XP_011535641.1:p.Cys226Tyr, XP_011535643.1:p.Cys195Tyr, XP_011535647.1:p.Cys59Tyr, XP_016877274.1:p.Cys214Tyr, NP_001340586.1:p.Cys183Tyr, NP_001340585.1:p.Cys183Tyr, NP_001340596.1:p.Cys10Tyr, NP_001340587.1:p.Cys133Tyr, XP_016877256.1:p.Cys195Tyr, NP_001340591.1:p.Cys10Tyr, NP_001340598.1:p.Cys10Tyr, NP_001340599.1:p.Cys10Tyr, NP_001229346.1:p.Cys214Tyr, NP_001340595.1:p.Cys10Tyr, NP_001340589.1:p.Cys133Tyr, NP_001340592.1:p.Cys10Tyr, NP_001229347.1:p.Cys195Tyr, NP_001340597.1:p.Cys10Tyr, NP_001340590.1:p.Cys52Tyr, NP_001229345.1:p.Cys122Tyr, NP_001340593.1:p.Cys10Tyr, NP_001340602.1:p.Cys10Tyr, NP_001340601.1:p.Cys10Tyr, NP_001340588.1:p.Cys134Tyr, NP_001340603.1:p.Cys10Tyr, NP_001340594.1:p.Cys10Tyr, XP_006720373.1:p.Cys10Tyr, NP_001340600.1:p.Cys10Tyr, XP_011535645.1:p.Cys164Tyr, XP_024305511.1:p.Cys10Tyr, XP_011535640.1:p.Cys214Tyr, XP_024305510.1:p.Cys10Tyr, XP_011535648.1:p.Cys10Tyr, XP_006720371.1:p.Cys122Tyr, XP_047287880.1:p.Cys195Tyr, XP_047287881.1:p.Cys122Tyr, XP_047287882.1:p.Cys134Tyr, XP_047287883.1:p.Cys80Tyr, XP_047287884.1:p.Cys10Tyr

                                16.

                                rs1449612232 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->AA [Show Flanks]
                                  Chromosome:
                                  14:102208870 (GRCh38)
                                  14:102675208 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:102208870::AA
                                  Gene:
                                  WDR20 (Varview), LOC105370677 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,frameshift_variant,intron_variant,2KB_upstream_variant,stop_gained
                                  Validated:
                                  by frequency
                                  MAF:
                                  AA=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.102208870_102208871insAA, NC_000014.8:g.102675207_102675208insAA, NM_144574.4:c.700_701insAA, NM_144574.3:c.700_701insAA, XM_011537353.4:c.570_571insAA, XM_011537353.3:c.570_571insAA, XM_011537353.2:c.570_571insAA, XM_011537353.1:c.570_571insAA, XM_011537340.4:c.829_830insAA, XM_011537340.3:c.829_830insAA, XM_011537340.2:c.829_830insAA, XM_011537340.1:c.829_830insAA, XM_011537344.4:c.550_551insAA, XM_011537344.3:c.550_551insAA, XM_011537344.2:c.550_551insAA, XM_011537344.1:c.550_551insAA, XM_011537336.3:c.829_830insAA, XM_011537336.2:c.829_830insAA, XM_011537336.1:c.829_830insAA, XM_011537335.3:c.829_830insAA, XM_011537335.2:c.829_830insAA, XM_011537335.1:c.829_830insAA, XM_011537337.3:c.829_830insAA, XM_011537337.2:c.829_830insAA, XM_011537337.1:c.829_830insAA, NM_001330228.3:c.793_794insAA, NM_001330228.2:c.793_794insAA, NM_001330228.1:c.793_794insAA, NM_181291.3:c.700_701insAA, NM_181291.2:c.700_701insAA, NM_181308.3:c.517_518insAA, NM_181308.2:c.517_518insAA, XM_011537339.3:c.829_830insAA, XM_011537339.2:c.829_830insAA, XM_011537339.1:c.829_830insAA, XM_011537341.3:c.736_737insAA, XM_011537341.2:c.736_737insAA, XM_011537341.1:c.736_737insAA, XM_011537345.3:c.328_329insAA, XM_011537345.2:c.328_329insAA, XM_011537345.1:c.328_329insAA, XM_017021785.2:c.793_794insAA, XM_017021785.1:c.793_794insAA, NM_001353657.2:c.700_701insAA, NM_001353657.1:c.700_701insAA, NM_001353656.2:c.700_701insAA, NM_001353656.1:c.700_701insAA, NM_001353667.2:c.181_182insAA, NM_001353667.1:c.181_182insAA, NM_001353658.2:c.550_551insAA, NM_001353658.1:c.550_551insAA, XM_017021767.2:c.736_737insAA, XM_017021767.1:c.736_737insAA, NM_001353662.2:c.181_182insAA, NM_001353662.1:c.181_182insAA, NM_001353669.2:c.181_182insAA, NM_001353669.1:c.181_182insAA, NM_001353670.2:c.181_182insAA, NM_001353670.1:c.181_182insAA, NM_001242417.2:c.793_794insAA, NM_001242417.1:c.793_794insAA, NM_001353666.2:c.181_182insAA, NM_001353666.1:c.181_182insAA, NM_001353660.2:c.550_551insAA, NM_001353660.1:c.550_551insAA, NM_001353663.2:c.181_182insAA, NM_001353663.1:c.181_182insAA, NM_001242418.2:c.736_737insAA, NM_001242418.1:c.736_737insAA, NM_001353668.2:c.181_182insAA, NM_001353668.1:c.181_182insAA, NM_001353661.2:c.307_308insAA, NM_001353661.1:c.307_308insAA, NM_001242416.2:c.517_518insAA, NM_001242416.1:c.517_518insAA, NM_001353664.2:c.181_182insAA, NM_001353664.1:c.181_182insAA, NM_001353673.2:c.181_182insAA, NM_001353673.1:c.181_182insAA, NM_001353675.2:c.-72_-71insAA, NM_001353675.1:c.-72_-71insAA, NM_001353672.2:c.181_182insAA, NM_001353672.1:c.181_182insAA, NM_001353659.2:c.553_554insAA, NM_001353659.1:c.553_554insAA, NM_001353677.2:c.-72_-71insAA, NM_001353677.1:c.-72_-71insAA, NM_001242414.2:c.*269_*270insAA, NM_001242414.1:c.*269_*270insAA, NM_001353674.2:c.181_182insAA, NM_001353674.1:c.181_182insAA, NM_001353665.2:c.181_182insAA, NM_001353665.1:c.181_182insAA, NR_038354.2:n.520_521insAA, NR_038354.1:n.565_566insAA, XM_006720310.2:c.181_182insAA, XM_006720310.1:c.181_182insAA, NM_001353676.2:c.-72_-71insAA, NM_001353676.1:c.-72_-71insAA, NM_001353671.2:c.181_182insAA, NM_001353671.1:c.181_182insAA, XM_011537343.2:c.643_644insAA, XM_011537343.1:c.643_644insAA, NM_001353678.2:c.-72_-71insAA, NM_001353678.1:c.-72_-71insAA, XM_024449743.2:c.181_182insAA, XM_024449743.1:c.181_182insAA, XM_011537338.2:c.793_794insAA, XM_011537338.1:c.793_794insAA, XM_024449742.2:c.181_182insAA, XM_024449742.1:c.181_182insAA, XM_011537346.2:c.181_182insAA, XM_011537346.1:c.181_182insAA, XM_006720308.2:c.517_518insAA, XM_006720308.1:c.517_518insAA, XM_047431924.1:c.736_737insAA, XM_047431925.1:c.517_518insAA, XM_047431926.1:c.553_554insAA, NM_181302.1:c.328_329insAA, XM_047431932.1:c.534_535insAA, XM_047431927.1:c.391_392insAA, XM_047431933.1:c.441_442insAA, XM_047431928.1:c.181_182insAA, NP_653175.2:p.Phe234Ter, XP_011535655.1:p.Ser191fs, XP_011535642.1:p.Phe277Ter, XP_011535646.1:p.Phe184Ter, XP_011535638.1:p.Phe277Ter, XP_011535637.1:p.Phe277Ter, XP_011535639.1:p.Phe277Ter, NP_001317157.1:p.Phe265Ter, NP_851808.1:p.Phe234Ter, NP_851825.1:p.Phe173Ter, XP_011535641.1:p.Phe277Ter, XP_011535643.1:p.Phe246Ter, XP_011535647.1:p.Phe110Ter, XP_016877274.1:p.Phe265Ter, NP_001340586.1:p.Phe234Ter, NP_001340585.1:p.Phe234Ter, NP_001340596.1:p.Phe61Ter, NP_001340587.1:p.Phe184Ter, XP_016877256.1:p.Phe246Ter, NP_001340591.1:p.Phe61Ter, NP_001340598.1:p.Phe61Ter, NP_001340599.1:p.Phe61Ter, NP_001229346.1:p.Phe265Ter, NP_001340595.1:p.Phe61Ter, NP_001340589.1:p.Phe184Ter, NP_001340592.1:p.Phe61Ter, NP_001229347.1:p.Phe246Ter, NP_001340597.1:p.Phe61Ter, NP_001340590.1:p.Phe103Ter, NP_001229345.1:p.Phe173Ter, NP_001340593.1:p.Phe61Ter, NP_001340602.1:p.Phe61Ter, NP_001340601.1:p.Phe61Ter, NP_001340588.1:p.Phe185Ter, NP_001340603.1:p.Phe61Ter, NP_001340594.1:p.Phe61Ter, XP_006720373.1:p.Phe61Ter, NP_001340600.1:p.Phe61Ter, XP_011535645.1:p.Phe215Ter, XP_024305511.1:p.Phe61Ter, XP_011535640.1:p.Phe265Ter, XP_024305510.1:p.Phe61Ter, XP_011535648.1:p.Phe61Ter, XP_006720371.1:p.Phe173Ter, XP_047287880.1:p.Phe246Ter, XP_047287881.1:p.Phe173Ter, XP_047287882.1:p.Phe185Ter, XP_047287888.1:p.Ser179fs, XP_047287883.1:p.Phe131Ter, XP_047287889.1:p.Ser148fs, XP_047287884.1:p.Phe61Ter

                                  17.

                                  rs1447416025 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    14:102208960 (GRCh38)
                                    14:102675297 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:102208959:G:C
                                    Gene:
                                    WDR20 (Varview), LOC105370677 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant,missense_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.102208960G>C, NC_000014.8:g.102675297G>C, NM_144574.4:c.790G>C, NM_144574.3:c.790G>C, XM_011537353.4:c.*84G>C, XM_011537353.3:c.*84G>C, XM_011537353.2:c.*84G>C, XM_011537353.1:c.*84G>C, XM_011537340.4:c.919G>C, XM_011537340.3:c.919G>C, XM_011537340.2:c.919G>C, XM_011537340.1:c.919G>C, XM_011537344.4:c.640G>C, XM_011537344.3:c.640G>C, XM_011537344.2:c.640G>C, XM_011537344.1:c.640G>C, XM_011537336.3:c.919G>C, XM_011537336.2:c.919G>C, XM_011537336.1:c.919G>C, XM_011537335.3:c.919G>C, XM_011537335.2:c.919G>C, XM_011537335.1:c.919G>C, XM_011537337.3:c.919G>C, XM_011537337.2:c.919G>C, XM_011537337.1:c.919G>C, NM_001330228.3:c.883G>C, NM_001330228.2:c.883G>C, NM_001330228.1:c.883G>C, NM_181291.3:c.790G>C, NM_181291.2:c.790G>C, NM_181308.3:c.607G>C, NM_181308.2:c.607G>C, XM_011537339.3:c.919G>C, XM_011537339.2:c.919G>C, XM_011537339.1:c.919G>C, XM_011537341.3:c.826G>C, XM_011537341.2:c.826G>C, XM_011537341.1:c.826G>C, XM_011537345.3:c.418G>C, XM_011537345.2:c.418G>C, XM_011537345.1:c.418G>C, XM_017021785.2:c.883G>C, XM_017021785.1:c.883G>C, NM_001353657.2:c.790G>C, NM_001353657.1:c.790G>C, NM_001353656.2:c.790G>C, NM_001353656.1:c.790G>C, NM_001353667.2:c.271G>C, NM_001353667.1:c.271G>C, NM_001353658.2:c.640G>C, NM_001353658.1:c.640G>C, XM_017021767.2:c.826G>C, XM_017021767.1:c.826G>C, NM_001353662.2:c.271G>C, NM_001353662.1:c.271G>C, NM_001353669.2:c.271G>C, NM_001353669.1:c.271G>C, NM_001353670.2:c.271G>C, NM_001353670.1:c.271G>C, NM_001242417.2:c.883G>C, NM_001242417.1:c.883G>C, NM_001353666.2:c.271G>C, NM_001353666.1:c.271G>C, NM_001353660.2:c.640G>C, NM_001353660.1:c.640G>C, NM_001353663.2:c.271G>C, NM_001353663.1:c.271G>C, NM_001242418.2:c.826G>C, NM_001242418.1:c.826G>C, NM_001353668.2:c.271G>C, NM_001353668.1:c.271G>C, NM_001353661.2:c.397G>C, NM_001353661.1:c.397G>C, NM_001242416.2:c.607G>C, NM_001242416.1:c.607G>C, NM_001353664.2:c.271G>C, NM_001353664.1:c.271G>C, NM_001353673.2:c.271G>C, NM_001353673.1:c.271G>C, NM_001353675.2:c.19G>C, NM_001353675.1:c.19G>C, NM_001353672.2:c.271G>C, NM_001353672.1:c.271G>C, NM_001353659.2:c.643G>C, NM_001353659.1:c.643G>C, NM_001353677.2:c.19G>C, NM_001353677.1:c.19G>C, NM_001242414.2:c.*359G>C, NM_001242414.1:c.*359G>C, NM_001353674.2:c.271G>C, NM_001353674.1:c.271G>C, NM_001353665.2:c.271G>C, NM_001353665.1:c.271G>C, NR_038354.2:n.610G>C, NR_038354.1:n.655G>C, XM_006720310.2:c.271G>C, XM_006720310.1:c.271G>C, NM_001353676.2:c.19G>C, NM_001353676.1:c.19G>C, NM_001353671.2:c.271G>C, NM_001353671.1:c.271G>C, XM_011537343.2:c.733G>C, XM_011537343.1:c.733G>C, NM_001353678.2:c.19G>C, NM_001353678.1:c.19G>C, XM_024449743.2:c.271G>C, XM_024449743.1:c.271G>C, XM_011537338.2:c.883G>C, XM_011537338.1:c.883G>C, XM_024449742.2:c.271G>C, XM_024449742.1:c.271G>C, XM_011537346.2:c.271G>C, XM_011537346.1:c.271G>C, XM_006720308.2:c.607G>C, XM_006720308.1:c.607G>C, XM_047431924.1:c.826G>C, XM_047431925.1:c.607G>C, XM_047431926.1:c.643G>C, NM_181302.1:c.418G>C, XM_047431932.1:c.*84G>C, XM_047431927.1:c.481G>C, XM_047431933.1:c.*84G>C, XM_047431928.1:c.271G>C, NP_653175.2:p.Gly264Arg, XP_011535642.1:p.Gly307Arg, XP_011535646.1:p.Gly214Arg, XP_011535638.1:p.Gly307Arg, XP_011535637.1:p.Gly307Arg, XP_011535639.1:p.Gly307Arg, NP_001317157.1:p.Gly295Arg, NP_851808.1:p.Gly264Arg, NP_851825.1:p.Gly203Arg, XP_011535641.1:p.Gly307Arg, XP_011535643.1:p.Gly276Arg, XP_011535647.1:p.Gly140Arg, XP_016877274.1:p.Gly295Arg, NP_001340586.1:p.Gly264Arg, NP_001340585.1:p.Gly264Arg, NP_001340596.1:p.Gly91Arg, NP_001340587.1:p.Gly214Arg, XP_016877256.1:p.Gly276Arg, NP_001340591.1:p.Gly91Arg, NP_001340598.1:p.Gly91Arg, NP_001340599.1:p.Gly91Arg, NP_001229346.1:p.Gly295Arg, NP_001340595.1:p.Gly91Arg, NP_001340589.1:p.Gly214Arg, NP_001340592.1:p.Gly91Arg, NP_001229347.1:p.Gly276Arg, NP_001340597.1:p.Gly91Arg, NP_001340590.1:p.Gly133Arg, NP_001229345.1:p.Gly203Arg, NP_001340593.1:p.Gly91Arg, NP_001340602.1:p.Gly91Arg, NP_001340604.1:p.Gly7Arg, NP_001340601.1:p.Gly91Arg, NP_001340588.1:p.Gly215Arg, NP_001340606.1:p.Gly7Arg, NP_001340603.1:p.Gly91Arg, NP_001340594.1:p.Gly91Arg, XP_006720373.1:p.Gly91Arg, NP_001340605.1:p.Gly7Arg, NP_001340600.1:p.Gly91Arg, XP_011535645.1:p.Gly245Arg, NP_001340607.1:p.Gly7Arg, XP_024305511.1:p.Gly91Arg, XP_011535640.1:p.Gly295Arg, XP_024305510.1:p.Gly91Arg, XP_011535648.1:p.Gly91Arg, XP_006720371.1:p.Gly203Arg, XP_047287880.1:p.Gly276Arg, XP_047287881.1:p.Gly203Arg, XP_047287882.1:p.Gly215Arg, XP_047287883.1:p.Gly161Arg, XP_047287884.1:p.Gly91Arg

                                    18.

                                    rs1446612028 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      14:102209329 (GRCh38)
                                      14:102675666 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:102209328:A:T
                                      Gene:
                                      WDR20 (Varview), LOC105370677 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,intron_variant,missense_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.102209329A>T, NC_000014.8:g.102675666A>T, NM_144574.4:c.1159A>T, NM_144574.3:c.1159A>T, XM_011537353.4:c.*453A>T, XM_011537353.3:c.*453A>T, XM_011537353.2:c.*453A>T, XM_011537353.1:c.*453A>T, XM_011537340.4:c.1288A>T, XM_011537340.3:c.1288A>T, XM_011537340.2:c.1288A>T, XM_011537340.1:c.1288A>T, XM_011537344.4:c.1009A>T, XM_011537344.3:c.1009A>T, XM_011537344.2:c.1009A>T, XM_011537344.1:c.1009A>T, XM_011537336.3:c.1288A>T, XM_011537336.2:c.1288A>T, XM_011537336.1:c.1288A>T, XM_011537335.3:c.1288A>T, XM_011537335.2:c.1288A>T, XM_011537335.1:c.1288A>T, XM_011537337.3:c.1288A>T, XM_011537337.2:c.1288A>T, XM_011537337.1:c.1288A>T, NM_001330228.3:c.1252A>T, NM_001330228.2:c.1252A>T, NM_001330228.1:c.1252A>T, NM_181291.3:c.1159A>T, NM_181291.2:c.1159A>T, NM_181308.3:c.976A>T, NM_181308.2:c.976A>T, XM_011537339.3:c.1288A>T, XM_011537339.2:c.1288A>T, XM_011537339.1:c.1288A>T, XM_011537341.3:c.1195A>T, XM_011537341.2:c.1195A>T, XM_011537341.1:c.1195A>T, XM_011537345.3:c.787A>T, XM_011537345.2:c.787A>T, XM_011537345.1:c.787A>T, XM_017021785.2:c.1252A>T, XM_017021785.1:c.1252A>T, NM_001353657.2:c.1159A>T, NM_001353657.1:c.1159A>T, NM_001353656.2:c.1159A>T, NM_001353656.1:c.1159A>T, NM_001353667.2:c.640A>T, NM_001353667.1:c.640A>T, NM_001353658.2:c.1009A>T, NM_001353658.1:c.1009A>T, XM_017021767.2:c.1195A>T, XM_017021767.1:c.1195A>T, NM_001353662.2:c.640A>T, NM_001353662.1:c.640A>T, NM_001353669.2:c.640A>T, NM_001353669.1:c.640A>T, NM_001353670.2:c.640A>T, NM_001353670.1:c.640A>T, NM_001242417.2:c.1252A>T, NM_001242417.1:c.1252A>T, NM_001353666.2:c.640A>T, NM_001353666.1:c.640A>T, NM_001353660.2:c.1009A>T, NM_001353660.1:c.1009A>T, NM_001353663.2:c.640A>T, NM_001353663.1:c.640A>T, NM_001242418.2:c.1195A>T, NM_001242418.1:c.1195A>T, NM_001353668.2:c.640A>T, NM_001353668.1:c.640A>T, NM_001353661.2:c.766A>T, NM_001353661.1:c.766A>T, NM_001242416.2:c.976A>T, NM_001242416.1:c.976A>T, NM_001353664.2:c.640A>T, NM_001353664.1:c.640A>T, NM_001353673.2:c.640A>T, NM_001353673.1:c.640A>T, NM_001353675.2:c.388A>T, NM_001353675.1:c.388A>T, NM_001353672.2:c.640A>T, NM_001353672.1:c.640A>T, NM_001353659.2:c.1012A>T, NM_001353659.1:c.1012A>T, NM_001353677.2:c.388A>T, NM_001353677.1:c.388A>T, NM_001242414.2:c.*728A>T, NM_001242414.1:c.*728A>T, NM_001353674.2:c.640A>T, NM_001353674.1:c.640A>T, NM_001353665.2:c.640A>T, NM_001353665.1:c.640A>T, NR_038354.2:n.979A>T, NR_038354.1:n.1024A>T, XM_006720310.2:c.640A>T, XM_006720310.1:c.640A>T, NM_001353676.2:c.388A>T, NM_001353676.1:c.388A>T, NM_001353671.2:c.640A>T, NM_001353671.1:c.640A>T, XM_011537343.2:c.1102A>T, XM_011537343.1:c.1102A>T, NM_001353678.2:c.388A>T, NM_001353678.1:c.388A>T, XM_024449743.2:c.640A>T, XM_024449743.1:c.640A>T, XM_011537338.2:c.1252A>T, XM_011537338.1:c.1252A>T, XM_024449742.2:c.640A>T, XM_024449742.1:c.640A>T, XM_011537346.2:c.640A>T, XM_011537346.1:c.640A>T, XM_006720308.2:c.976A>T, XM_006720308.1:c.976A>T, XM_047431924.1:c.1195A>T, XM_047431925.1:c.976A>T, XM_047431926.1:c.1012A>T, NM_181302.1:c.787A>T, XM_047431932.1:c.*453A>T, XM_047431927.1:c.850A>T, XM_047431933.1:c.*453A>T, XM_047431928.1:c.640A>T, NP_653175.2:p.Ile387Phe, XP_011535642.1:p.Ile430Phe, XP_011535646.1:p.Ile337Phe, XP_011535638.1:p.Ile430Phe, XP_011535637.1:p.Ile430Phe, XP_011535639.1:p.Ile430Phe, NP_001317157.1:p.Ile418Phe, NP_851808.1:p.Ile387Phe, NP_851825.1:p.Ile326Phe, XP_011535641.1:p.Ile430Phe, XP_011535643.1:p.Ile399Phe, XP_011535647.1:p.Ile263Phe, XP_016877274.1:p.Ile418Phe, NP_001340586.1:p.Ile387Phe, NP_001340585.1:p.Ile387Phe, NP_001340596.1:p.Ile214Phe, NP_001340587.1:p.Ile337Phe, XP_016877256.1:p.Ile399Phe, NP_001340591.1:p.Ile214Phe, NP_001340598.1:p.Ile214Phe, NP_001340599.1:p.Ile214Phe, NP_001229346.1:p.Ile418Phe, NP_001340595.1:p.Ile214Phe, NP_001340589.1:p.Ile337Phe, NP_001340592.1:p.Ile214Phe, NP_001229347.1:p.Ile399Phe, NP_001340597.1:p.Ile214Phe, NP_001340590.1:p.Ile256Phe, NP_001229345.1:p.Ile326Phe, NP_001340593.1:p.Ile214Phe, NP_001340602.1:p.Ile214Phe, NP_001340604.1:p.Ile130Phe, NP_001340601.1:p.Ile214Phe, NP_001340588.1:p.Ile338Phe, NP_001340606.1:p.Ile130Phe, NP_001340603.1:p.Ile214Phe, NP_001340594.1:p.Ile214Phe, XP_006720373.1:p.Ile214Phe, NP_001340605.1:p.Ile130Phe, NP_001340600.1:p.Ile214Phe, XP_011535645.1:p.Ile368Phe, NP_001340607.1:p.Ile130Phe, XP_024305511.1:p.Ile214Phe, XP_011535640.1:p.Ile418Phe, XP_024305510.1:p.Ile214Phe, XP_011535648.1:p.Ile214Phe, XP_006720371.1:p.Ile326Phe, XP_047287880.1:p.Ile399Phe, XP_047287881.1:p.Ile326Phe, XP_047287882.1:p.Ile338Phe, XP_047287883.1:p.Ile284Phe, XP_047287884.1:p.Ile214Phe

                                      19.

                                      rs1445222010 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        14:102209772 (GRCh38)
                                        14:102676109 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:102209771:G:A
                                        Gene:
                                        WDR20 (Varview), LOC105370677 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant,2KB_upstream_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.102209772G>A, NC_000014.8:g.102676109G>A, NM_144574.4:c.1602G>A, NM_144574.3:c.1602G>A, XM_011537353.4:c.*896G>A, XM_011537353.3:c.*896G>A, XM_011537353.2:c.*896G>A, XM_011537353.1:c.*896G>A, XM_011537340.4:c.1731G>A, XM_011537340.3:c.1731G>A, XM_011537340.2:c.1731G>A, XM_011537340.1:c.1731G>A, XM_011537344.4:c.1452G>A, XM_011537344.3:c.1452G>A, XM_011537344.2:c.1452G>A, XM_011537344.1:c.1452G>A, XM_011537336.3:c.1731G>A, XM_011537336.2:c.1731G>A, XM_011537336.1:c.1731G>A, XM_011537335.3:c.1731G>A, XM_011537335.2:c.1731G>A, XM_011537335.1:c.1731G>A, XM_011537337.3:c.1731G>A, XM_011537337.2:c.1731G>A, XM_011537337.1:c.1731G>A, NM_001330228.3:c.1695G>A, NM_001330228.2:c.1695G>A, NM_001330228.1:c.1695G>A, NM_181291.3:c.1602G>A, NM_181291.2:c.1602G>A, NM_181308.3:c.1419G>A, NM_181308.2:c.1419G>A, XM_011537339.3:c.1731G>A, XM_011537339.2:c.1731G>A, XM_011537339.1:c.1731G>A, XM_011537341.3:c.1638G>A, XM_011537341.2:c.1638G>A, XM_011537341.1:c.1638G>A, XM_011537345.3:c.1230G>A, XM_011537345.2:c.1230G>A, XM_011537345.1:c.1230G>A, XM_017021785.2:c.1695G>A, XM_017021785.1:c.1695G>A, NM_001353657.2:c.1602G>A, NM_001353657.1:c.1602G>A, NM_001353656.2:c.1602G>A, NM_001353656.1:c.1602G>A, NM_001353667.2:c.1083G>A, NM_001353667.1:c.1083G>A, NM_001353658.2:c.1452G>A, NM_001353658.1:c.1452G>A, XM_017021767.2:c.1638G>A, XM_017021767.1:c.1638G>A, NM_001353662.2:c.1083G>A, NM_001353662.1:c.1083G>A, NM_001353669.2:c.1083G>A, NM_001353669.1:c.1083G>A, NM_001353670.2:c.1083G>A, NM_001353670.1:c.1083G>A, NM_001242417.2:c.1695G>A, NM_001242417.1:c.1695G>A, NM_001353666.2:c.1083G>A, NM_001353666.1:c.1083G>A, NM_001353660.2:c.1452G>A, NM_001353660.1:c.1452G>A, NM_001353663.2:c.1083G>A, NM_001353663.1:c.1083G>A, NM_001242418.2:c.1638G>A, NM_001242418.1:c.1638G>A, NM_001353668.2:c.1083G>A, NM_001353668.1:c.1083G>A, NM_001353661.2:c.1209G>A, NM_001353661.1:c.1209G>A, NM_001242416.2:c.1419G>A, NM_001242416.1:c.1419G>A, NM_001353664.2:c.1083G>A, NM_001353664.1:c.1083G>A, NM_001353673.2:c.1083G>A, NM_001353673.1:c.1083G>A, NM_001353675.2:c.831G>A, NM_001353675.1:c.831G>A, NM_001353672.2:c.1083G>A, NM_001353672.1:c.1083G>A, NM_001353659.2:c.1455G>A, NM_001353659.1:c.1455G>A, NM_001353677.2:c.831G>A, NM_001353677.1:c.831G>A, NM_001242414.2:c.*1171G>A, NM_001242414.1:c.*1171G>A, NM_001353674.2:c.1083G>A, NM_001353674.1:c.1083G>A, NM_001353665.2:c.1083G>A, NM_001353665.1:c.1083G>A, NR_038354.2:n.1422G>A, NR_038354.1:n.1467G>A, XM_006720310.2:c.1083G>A, XM_006720310.1:c.1083G>A, NM_001353676.2:c.831G>A, NM_001353676.1:c.831G>A, NM_001353671.2:c.1083G>A, NM_001353671.1:c.1083G>A, XM_011537343.2:c.1545G>A, XM_011537343.1:c.1545G>A, NM_001353678.2:c.831G>A, NM_001353678.1:c.831G>A, XM_024449743.2:c.1083G>A, XM_024449743.1:c.1083G>A, XM_011537338.2:c.1695G>A, XM_011537338.1:c.1695G>A, XM_024449742.2:c.1083G>A, XM_024449742.1:c.1083G>A, XM_011537346.2:c.1083G>A, XM_011537346.1:c.1083G>A, XM_006720308.2:c.1419G>A, XM_006720308.1:c.1419G>A, XM_047431924.1:c.1638G>A, XM_047431925.1:c.1419G>A, XM_047431926.1:c.1455G>A, NM_181302.1:c.1230G>A, XM_047431932.1:c.*896G>A, XM_047431927.1:c.1293G>A, XM_047431933.1:c.*896G>A, XM_047431928.1:c.1083G>A

                                        20.

                                        rs1444166616 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          14:102208896 (GRCh38)
                                          14:102675233 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:102208895:G:T
                                          Gene:
                                          WDR20 (Varview), LOC105370677 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.102208896G>T, NC_000014.8:g.102675233G>T, NM_144574.4:c.726G>T, NM_144574.3:c.726G>T, XM_011537353.4:c.*20G>T, XM_011537353.3:c.*20G>T, XM_011537353.2:c.*20G>T, XM_011537353.1:c.*20G>T, XM_011537340.4:c.855G>T, XM_011537340.3:c.855G>T, XM_011537340.2:c.855G>T, XM_011537340.1:c.855G>T, XM_011537344.4:c.576G>T, XM_011537344.3:c.576G>T, XM_011537344.2:c.576G>T, XM_011537344.1:c.576G>T, XM_011537336.3:c.855G>T, XM_011537336.2:c.855G>T, XM_011537336.1:c.855G>T, XM_011537335.3:c.855G>T, XM_011537335.2:c.855G>T, XM_011537335.1:c.855G>T, XM_011537337.3:c.855G>T, XM_011537337.2:c.855G>T, XM_011537337.1:c.855G>T, NM_001330228.3:c.819G>T, NM_001330228.2:c.819G>T, NM_001330228.1:c.819G>T, NM_181291.3:c.726G>T, NM_181291.2:c.726G>T, NM_181308.3:c.543G>T, NM_181308.2:c.543G>T, XM_011537339.3:c.855G>T, XM_011537339.2:c.855G>T, XM_011537339.1:c.855G>T, XM_011537341.3:c.762G>T, XM_011537341.2:c.762G>T, XM_011537341.1:c.762G>T, XM_011537345.3:c.354G>T, XM_011537345.2:c.354G>T, XM_011537345.1:c.354G>T, XM_017021785.2:c.819G>T, XM_017021785.1:c.819G>T, NM_001353657.2:c.726G>T, NM_001353657.1:c.726G>T, NM_001353656.2:c.726G>T, NM_001353656.1:c.726G>T, NM_001353667.2:c.207G>T, NM_001353667.1:c.207G>T, NM_001353658.2:c.576G>T, NM_001353658.1:c.576G>T, XM_017021767.2:c.762G>T, XM_017021767.1:c.762G>T, NM_001353662.2:c.207G>T, NM_001353662.1:c.207G>T, NM_001353669.2:c.207G>T, NM_001353669.1:c.207G>T, NM_001353670.2:c.207G>T, NM_001353670.1:c.207G>T, NM_001242417.2:c.819G>T, NM_001242417.1:c.819G>T, NM_001353666.2:c.207G>T, NM_001353666.1:c.207G>T, NM_001353660.2:c.576G>T, NM_001353660.1:c.576G>T, NM_001353663.2:c.207G>T, NM_001353663.1:c.207G>T, NM_001242418.2:c.762G>T, NM_001242418.1:c.762G>T, NM_001353668.2:c.207G>T, NM_001353668.1:c.207G>T, NM_001353661.2:c.333G>T, NM_001353661.1:c.333G>T, NM_001242416.2:c.543G>T, NM_001242416.1:c.543G>T, NM_001353664.2:c.207G>T, NM_001353664.1:c.207G>T, NM_001353673.2:c.207G>T, NM_001353673.1:c.207G>T, NM_001353675.2:c.-46G>T, NM_001353675.1:c.-46G>T, NM_001353672.2:c.207G>T, NM_001353672.1:c.207G>T, NM_001353659.2:c.579G>T, NM_001353659.1:c.579G>T, NM_001353677.2:c.-46G>T, NM_001353677.1:c.-46G>T, NM_001242414.2:c.*295G>T, NM_001242414.1:c.*295G>T, NM_001353674.2:c.207G>T, NM_001353674.1:c.207G>T, NM_001353665.2:c.207G>T, NM_001353665.1:c.207G>T, NR_038354.2:n.546G>T, NR_038354.1:n.591G>T, XM_006720310.2:c.207G>T, XM_006720310.1:c.207G>T, NM_001353676.2:c.-46G>T, NM_001353676.1:c.-46G>T, NM_001353671.2:c.207G>T, NM_001353671.1:c.207G>T, XM_011537343.2:c.669G>T, XM_011537343.1:c.669G>T, NM_001353678.2:c.-46G>T, NM_001353678.1:c.-46G>T, XM_024449743.2:c.207G>T, XM_024449743.1:c.207G>T, XM_011537338.2:c.819G>T, XM_011537338.1:c.819G>T, XM_024449742.2:c.207G>T, XM_024449742.1:c.207G>T, XM_011537346.2:c.207G>T, XM_011537346.1:c.207G>T, XM_006720308.2:c.543G>T, XM_006720308.1:c.543G>T, XM_047431924.1:c.762G>T, XM_047431925.1:c.543G>T, XM_047431926.1:c.579G>T, NM_181302.1:c.354G>T, XM_047431932.1:c.*20G>T, XM_047431927.1:c.417G>T, XM_047431933.1:c.*20G>T, XM_047431928.1:c.207G>T

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