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Items: 1 to 20 of 736

1.

rs1490982988 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    3:51441795 (GRCh38)
    3:51475811 (GRCh37)
    Canonical SPDI:
    NC_000003.12:51441794:G:C
    Gene:
    DCAF1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (TOPMED)
    HGVS:
    NC_000003.12:g.51441795G>C, NC_000003.11:g.51475811G>C, NW_003315910.1:g.63118G>C, XM_005276755.6:c.616C>G, XM_005276755.5:c.616C>G, XM_005276755.4:c.616C>G, XM_005276755.3:c.616C>G, XM_005276755.2:c.616C>G, XM_005276755.1:c.616C>G, XM_005276753.6:c.616C>G, XM_005276753.5:c.616C>G, XM_005276753.4:c.616C>G, XM_005276753.3:c.616C>G, XM_005276753.2:c.616C>G, XM_005276753.1:c.616C>G, XM_011534273.4:c.616C>G, XM_011534273.3:c.616C>G, XM_011534273.2:c.616C>G, XM_011534273.1:c.616C>G, XM_011534275.4:c.616C>G, XM_011534275.3:c.616C>G, XM_011534275.2:c.616C>G, XM_011534275.1:c.616C>G, XM_017007549.3:c.616C>G, XM_017007549.2:c.616C>G, XM_017007549.1:c.616C>G, NM_014703.3:c.616C>G, NM_014703.2:c.616C>G, XM_017007547.3:c.616C>G, XM_017007547.2:c.616C>G, XM_017007547.1:c.616C>G, XR_001740385.3:n.939C>G, XR_001740385.2:n.953C>G, XR_001740385.1:n.952C>G, NM_001171904.2:c.613C>G, NM_001171904.1:c.613C>G, NM_001349169.2:c.616C>G, NM_001349169.1:c.616C>G, NM_001349168.2:c.616C>G, NM_001349168.1:c.616C>G, NM_001349170.2:c.616C>G, NM_001349170.1:c.616C>G, NM_001349171.2:c.370C>G, NM_001349171.1:c.370C>G, NR_146065.2:n.767C>G, NR_146065.1:n.754C>G, XR_007095775.1:n.767C>G, XM_047449271.1:c.616C>G, XM_047449276.1:c.616C>G, NM_001387581.1:c.616C>G, XM_047449277.1:c.616C>G, XM_047449270.1:c.616C>G, XM_047449278.1:c.616C>G, XM_047449274.1:c.616C>G, XM_047449269.1:c.616C>G, XM_047449282.1:c.616C>G, XM_047449275.1:c.616C>G, NM_001387578.1:c.616C>G, NM_001387580.1:c.616C>G, XM_047449272.1:c.616C>G, NM_001387583.1:c.370C>G, XM_047449273.1:c.616C>G, NM_001387579.1:c.616C>G, NM_001387582.1:c.613C>G, XM_047449281.1:c.616C>G, XM_047449280.1:c.616C>G, XM_047449279.1:c.616C>G, XR_007095772.1:n.914C>G, XR_007095773.1:n.867C>G, XR_007095774.1:n.767C>G, NR_170668.1:n.814C>G, XR_007095777.1:n.814C>G, XR_007095778.1:n.914C>G, XR_007095776.1:n.767C>G, XP_005276812.1:p.Leu206Val, XP_005276810.1:p.Leu206Val, XP_011532575.1:p.Leu206Val, XP_011532577.1:p.Leu206Val, XP_016863038.1:p.Leu206Val, NP_055518.1:p.Leu206Val, XP_016863036.1:p.Leu206Val, NP_001165375.1:p.Leu205Val, NP_001336098.1:p.Leu206Val, NP_001336097.1:p.Leu206Val, NP_001336099.1:p.Leu206Val, NP_001336100.1:p.Leu124Val, XP_047305227.1:p.Leu206Val, XP_047305232.1:p.Leu206Val, NP_001374510.1:p.Leu206Val, XP_047305233.1:p.Leu206Val, XP_047305226.1:p.Leu206Val, XP_047305234.1:p.Leu206Val, XP_047305230.1:p.Leu206Val, XP_047305225.1:p.Leu206Val, XP_047305238.1:p.Leu206Val, XP_047305231.1:p.Leu206Val, NP_001374507.1:p.Leu206Val, NP_001374509.1:p.Leu206Val, XP_047305228.1:p.Leu206Val, NP_001374512.1:p.Leu124Val, XP_047305229.1:p.Leu206Val, NP_001374508.1:p.Leu206Val, NP_001374511.1:p.Leu205Val, XP_047305237.1:p.Leu206Val, XP_047305236.1:p.Leu206Val, XP_047305235.1:p.Leu206Val

    2.

    rs1485031575 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      3:51420980 (GRCh38)
      3:51458434 (GRCh37)
      Canonical SPDI:
      NC_000003.12:51420979:C:G
      Gene:
      DCAF1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000056/2 (ALFA)
      G=0.000011/3 (TOPMED)
      G=0.000029/4 (GnomAD)
      HGVS:
      NC_000003.12:g.51420980C>G, NW_003315910.1:g.42303C>G, NC_000003.11:g.51458434C>G, XM_005276755.6:c.1990G>C, XM_005276755.5:c.1990G>C, XM_005276755.4:c.1990G>C, XM_005276755.3:c.1990G>C, XM_005276755.2:c.1990G>C, XM_005276755.1:c.1990G>C, XM_005276753.6:c.1990G>C, XM_005276753.5:c.1990G>C, XM_005276753.4:c.1990G>C, XM_005276753.3:c.1990G>C, XM_005276753.2:c.1990G>C, XM_005276753.1:c.1990G>C, XM_011534273.4:c.1990G>C, XM_011534273.3:c.1990G>C, XM_011534273.2:c.1990G>C, XM_011534273.1:c.1990G>C, XM_011534275.4:c.1990G>C, XM_011534275.3:c.1990G>C, XM_011534275.2:c.1990G>C, XM_011534275.1:c.1990G>C, XM_017007549.3:c.1990G>C, XM_017007549.2:c.1990G>C, XM_017007549.1:c.1990G>C, NM_014703.3:c.1990G>C, NM_014703.2:c.1990G>C, XM_017007547.3:c.1990G>C, XM_017007547.2:c.1990G>C, XM_017007547.1:c.1990G>C, XR_001740385.3:n.2313G>C, XR_001740385.2:n.2327G>C, XR_001740385.1:n.2326G>C, NM_001171904.2:c.1987G>C, NM_001171904.1:c.1987G>C, NM_001349169.2:c.1990G>C, NM_001349169.1:c.1990G>C, NM_001349168.2:c.1990G>C, NM_001349168.1:c.1990G>C, NM_001349170.2:c.1990G>C, NM_001349170.1:c.1990G>C, NM_001349171.2:c.1744G>C, NM_001349171.1:c.1744G>C, NR_146065.2:n.2141G>C, NR_146065.1:n.2128G>C, XR_007095775.1:n.2141G>C, XM_047449271.1:c.1990G>C, XM_047449276.1:c.1990G>C, NM_001387581.1:c.1990G>C, XM_047449277.1:c.1990G>C, XM_047449270.1:c.1990G>C, XM_047449278.1:c.1990G>C, XM_047449274.1:c.1990G>C, XM_047449269.1:c.1990G>C, XM_047449282.1:c.1831G>C, XM_047449275.1:c.1990G>C, NM_001387578.1:c.1990G>C, NM_001387580.1:c.1990G>C, XM_047449272.1:c.1990G>C, NM_001387583.1:c.1744G>C, XM_047449273.1:c.1990G>C, NM_001387579.1:c.1990G>C, NM_001387582.1:c.1987G>C, XM_047449281.1:c.1831G>C, XM_047449280.1:c.1831G>C, XM_047449279.1:c.1831G>C, XR_007095772.1:n.2288G>C, XR_007095773.1:n.2241G>C, XR_007095774.1:n.2141G>C, NR_170668.1:n.2188G>C, XR_007095777.1:n.2188G>C, XR_007095778.1:n.2129G>C, XR_007095776.1:n.2141G>C, XM_047449283.1:c.-183G>C, XP_005276812.1:p.Gly664Arg, XP_005276810.1:p.Gly664Arg, XP_011532575.1:p.Gly664Arg, XP_011532577.1:p.Gly664Arg, XP_016863038.1:p.Gly664Arg, NP_055518.1:p.Gly664Arg, XP_016863036.1:p.Gly664Arg, NP_001165375.1:p.Gly663Arg, NP_001336098.1:p.Gly664Arg, NP_001336097.1:p.Gly664Arg, NP_001336099.1:p.Gly664Arg, NP_001336100.1:p.Gly582Arg, XP_047305227.1:p.Gly664Arg, XP_047305232.1:p.Gly664Arg, NP_001374510.1:p.Gly664Arg, XP_047305233.1:p.Gly664Arg, XP_047305226.1:p.Gly664Arg, XP_047305234.1:p.Gly664Arg, XP_047305230.1:p.Gly664Arg, XP_047305225.1:p.Gly664Arg, XP_047305238.1:p.Gly611Arg, XP_047305231.1:p.Gly664Arg, NP_001374507.1:p.Gly664Arg, NP_001374509.1:p.Gly664Arg, XP_047305228.1:p.Gly664Arg, NP_001374512.1:p.Gly582Arg, XP_047305229.1:p.Gly664Arg, NP_001374508.1:p.Gly664Arg, NP_001374511.1:p.Gly663Arg, XP_047305237.1:p.Gly611Arg, XP_047305236.1:p.Gly611Arg, XP_047305235.1:p.Gly611Arg

      3.

      rs1484535233 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:51420755 (GRCh38)
        3:51458209 (GRCh37)
        Canonical SPDI:
        NC_000003.12:51420754:G:A
        Gene:
        DCAF1 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000019/5 (TOPMED)
        HGVS:
        NC_000003.12:g.51420755G>A, NW_003315910.1:g.42078G>A, NC_000003.11:g.51458209G>A, XM_005276755.6:c.2215C>T, XM_005276755.5:c.2215C>T, XM_005276755.4:c.2215C>T, XM_005276755.3:c.2215C>T, XM_005276755.2:c.2215C>T, XM_005276755.1:c.2215C>T, XM_005276753.6:c.2215C>T, XM_005276753.5:c.2215C>T, XM_005276753.4:c.2215C>T, XM_005276753.3:c.2215C>T, XM_005276753.2:c.2215C>T, XM_005276753.1:c.2215C>T, XM_011534273.4:c.2215C>T, XM_011534273.3:c.2215C>T, XM_011534273.2:c.2215C>T, XM_011534273.1:c.2215C>T, XM_011534275.4:c.2215C>T, XM_011534275.3:c.2215C>T, XM_011534275.2:c.2215C>T, XM_011534275.1:c.2215C>T, XM_017007549.3:c.2215C>T, XM_017007549.2:c.2215C>T, XM_017007549.1:c.2215C>T, NM_014703.3:c.2215C>T, NM_014703.2:c.2215C>T, XM_017007547.3:c.2215C>T, XM_017007547.2:c.2215C>T, XM_017007547.1:c.2215C>T, XR_001740385.3:n.2538C>T, XR_001740385.2:n.2552C>T, XR_001740385.1:n.2551C>T, NM_001171904.2:c.2212C>T, NM_001171904.1:c.2212C>T, NM_001349169.2:c.2215C>T, NM_001349169.1:c.2215C>T, NM_001349168.2:c.2215C>T, NM_001349168.1:c.2215C>T, NM_001349170.2:c.2215C>T, NM_001349170.1:c.2215C>T, NM_001349171.2:c.1969C>T, NM_001349171.1:c.1969C>T, NR_146065.2:n.2366C>T, NR_146065.1:n.2353C>T, XR_007095775.1:n.2366C>T, XM_047449271.1:c.2215C>T, XM_047449276.1:c.2215C>T, NM_001387581.1:c.2215C>T, XM_047449277.1:c.2215C>T, XM_047449270.1:c.2215C>T, XM_047449278.1:c.2215C>T, XM_047449274.1:c.2215C>T, XM_047449269.1:c.2215C>T, XM_047449282.1:c.2056C>T, XM_047449275.1:c.2215C>T, NM_001387578.1:c.2215C>T, NM_001387580.1:c.2215C>T, XM_047449272.1:c.2215C>T, NM_001387583.1:c.1969C>T, XM_047449273.1:c.2215C>T, NM_001387579.1:c.2215C>T, NM_001387582.1:c.2212C>T, XM_047449281.1:c.2056C>T, XM_047449280.1:c.2056C>T, XM_047449279.1:c.2056C>T, XR_007095772.1:n.2513C>T, XR_007095773.1:n.2466C>T, XR_007095774.1:n.2366C>T, NR_170668.1:n.2413C>T, XR_007095777.1:n.2413C>T, XR_007095778.1:n.2354C>T, XR_007095776.1:n.2366C>T, XM_047449283.1:c.43C>T

        4.

        rs1479642367 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATC>-,ATCATC [Show Flanks]
          Chromosome:
          3:51403369 (GRCh38)
          3:51440803 (GRCh37)
          Canonical SPDI:
          NC_000003.12:51403360:TCATCATCATC:TCATCATC,NC_000003.12:51403360:TCATCATCATC:TCATCATCATCATC
          Gene:
          DCAF1 (Varview)
          Functional Consequence:
          inframe_deletion,coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TCATCATCATCATC=0./0 (ALFA)
          HGVS:
          NC_000003.12:g.51403363ATC[2], NC_000003.12:g.51403363ATC[4], NW_003315910.1:g.24686ATC[2], NW_003315910.1:g.24686ATC[4], NC_000003.11:g.51440797ATC[2], NC_000003.11:g.51440797ATC[4], XM_005276755.6:c.4239TGA[2], XM_005276755.6:c.4239TGA[4], XM_005276755.5:c.4239TGA[2], XM_005276755.5:c.4239TGA[4], XM_005276755.4:c.4239TGA[2], XM_005276755.4:c.4239TGA[4], XM_005276755.3:c.4239TGA[2], XM_005276755.3:c.4239TGA[4], XM_005276755.2:c.4239TGA[2], XM_005276755.2:c.4239TGA[4], XM_005276755.1:c.4239TGA[2], XM_005276755.1:c.4239TGA[4], XM_005276753.6:c.4239TGA[2], XM_005276753.6:c.4239TGA[4], XM_005276753.5:c.4239TGA[2], XM_005276753.5:c.4239TGA[4], XM_005276753.4:c.4239TGA[2], XM_005276753.4:c.4239TGA[4], XM_005276753.3:c.4239TGA[2], XM_005276753.3:c.4239TGA[4], XM_005276753.2:c.4239TGA[2], XM_005276753.2:c.4239TGA[4], XM_005276753.1:c.4239TGA[2], XM_005276753.1:c.4239TGA[4], XM_011534273.4:c.4239TGA[2], XM_011534273.4:c.4239TGA[4], XM_011534273.3:c.4239TGA[2], XM_011534273.3:c.4239TGA[4], XM_011534273.2:c.4239TGA[2], XM_011534273.2:c.4239TGA[4], XM_011534273.1:c.4239TGA[2], XM_011534273.1:c.4239TGA[4], XM_011534275.4:c.4239TGA[2], XM_011534275.4:c.4239TGA[4], XM_011534275.3:c.4239TGA[2], XM_011534275.3:c.4239TGA[4], XM_011534275.2:c.4239TGA[2], XM_011534275.2:c.4239TGA[4], XM_011534275.1:c.4239TGA[2], XM_011534275.1:c.4239TGA[4], XM_017007549.3:c.4239TGA[2], XM_017007549.3:c.4239TGA[4], XM_017007549.2:c.4239TGA[2], XM_017007549.2:c.4239TGA[4], XM_017007549.1:c.4239TGA[2], XM_017007549.1:c.4239TGA[4], NM_014703.3:c.4239TGA[2], NM_014703.3:c.4239TGA[4], NM_014703.2:c.4239TGA[2], NM_014703.2:c.4239TGA[4], XM_017007547.3:c.4239TGA[2], XM_017007547.3:c.4239TGA[4], XM_017007547.2:c.4239TGA[2], XM_017007547.2:c.4239TGA[4], XM_017007547.1:c.4239TGA[2], XM_017007547.1:c.4239TGA[4], XR_001740385.3:n.4562TGA[2], XR_001740385.3:n.4562TGA[4], XR_001740385.2:n.4576TGA[2], XR_001740385.2:n.4576TGA[4], XR_001740385.1:n.4575TGA[2], XR_001740385.1:n.4575TGA[4], NM_001171904.2:c.4236TGA[2], NM_001171904.2:c.4236TGA[4], NM_001171904.1:c.4236TGA[2], NM_001171904.1:c.4236TGA[4], NM_001349169.2:c.4239TGA[2], NM_001349169.2:c.4239TGA[4], NM_001349169.1:c.4239TGA[2], NM_001349169.1:c.4239TGA[4], NM_001349168.2:c.4239TGA[2], NM_001349168.2:c.4239TGA[4], NM_001349168.1:c.4239TGA[2], NM_001349168.1:c.4239TGA[4], NM_001349170.2:c.4239TGA[2], NM_001349170.2:c.4239TGA[4], NM_001349170.1:c.4239TGA[2], NM_001349170.1:c.4239TGA[4], NM_001349171.2:c.3993TGA[2], NM_001349171.2:c.3993TGA[4], NM_001349171.1:c.3993TGA[2], NM_001349171.1:c.3993TGA[4], NR_146065.2:n.4390TGA[2], NR_146065.2:n.4390TGA[4], NR_146065.1:n.4377TGA[2], NR_146065.1:n.4377TGA[4], XR_007095775.1:n.4390TGA[2], XR_007095775.1:n.4390TGA[4], XM_047449271.1:c.4239TGA[2], XM_047449271.1:c.4239TGA[4], XM_047449276.1:c.4218TGA[2], XM_047449276.1:c.4218TGA[4], NM_001387581.1:c.4239TGA[2], NM_001387581.1:c.4239TGA[4], XM_047449277.1:c.4218TGA[2], XM_047449277.1:c.4218TGA[4], XM_047449270.1:c.4239TGA[2], XM_047449270.1:c.4239TGA[4], XM_047449278.1:c.4218TGA[2], XM_047449278.1:c.4218TGA[4], XM_047449274.1:c.4218TGA[2], XM_047449274.1:c.4218TGA[4], XM_047449269.1:c.4239TGA[2], XM_047449269.1:c.4239TGA[4], XM_047449282.1:c.4080TGA[2], XM_047449282.1:c.4080TGA[4], XM_047449275.1:c.4218TGA[2], XM_047449275.1:c.4218TGA[4], NM_001387578.1:c.4239TGA[2], NM_001387578.1:c.4239TGA[4], NM_001387580.1:c.4239TGA[2], NM_001387580.1:c.4239TGA[4], XM_047449272.1:c.4239TGA[2], XM_047449272.1:c.4239TGA[4], NM_001387583.1:c.3993TGA[2], NM_001387583.1:c.3993TGA[4], XM_047449273.1:c.4239TGA[2], XM_047449273.1:c.4239TGA[4], NM_001387579.1:c.4239TGA[2], NM_001387579.1:c.4239TGA[4], NM_001387582.1:c.4236TGA[2], NM_001387582.1:c.4236TGA[4], XM_047449281.1:c.4080TGA[2], XM_047449281.1:c.4080TGA[4], XM_047449280.1:c.4080TGA[2], XM_047449280.1:c.4080TGA[4], XM_047449279.1:c.4080TGA[2], XM_047449279.1:c.4080TGA[4], XR_007095772.1:n.4537TGA[2], XR_007095772.1:n.4537TGA[4], XR_007095773.1:n.4490TGA[2], XR_007095773.1:n.4490TGA[4], XR_007095774.1:n.4390TGA[2], XR_007095774.1:n.4390TGA[4], NR_170668.1:n.4437TGA[2], NR_170668.1:n.4437TGA[4], XR_007095777.1:n.4416TGA[2], XR_007095777.1:n.4416TGA[4], XR_007095778.1:n.4378TGA[2], XR_007095778.1:n.4378TGA[4], XR_007095776.1:n.4369TGA[2], XR_007095776.1:n.4369TGA[4], XM_047449283.1:c.2067TGA[2], XM_047449283.1:c.2067TGA[4], XP_005276812.1:p.Asp1415del, XP_005276812.1:p.Asp1415dup, XP_005276810.1:p.Asp1415del, XP_005276810.1:p.Asp1415dup, XP_011532575.1:p.Asp1415del, XP_011532575.1:p.Asp1415dup, XP_011532577.1:p.Asp1415del, XP_011532577.1:p.Asp1415dup, XP_016863038.1:p.Asp1415del, XP_016863038.1:p.Asp1415dup, NP_055518.1:p.Asp1415del, NP_055518.1:p.Asp1415dup, XP_016863036.1:p.Asp1415del, XP_016863036.1:p.Asp1415dup, NP_001165375.1:p.Asp1414del, NP_001165375.1:p.Asp1414dup, NP_001336098.1:p.Asp1415del, NP_001336098.1:p.Asp1415dup, NP_001336097.1:p.Asp1415del, NP_001336097.1:p.Asp1415dup, NP_001336099.1:p.Asp1415del, NP_001336099.1:p.Asp1415dup, NP_001336100.1:p.Asp1333del, NP_001336100.1:p.Asp1333dup, XP_047305227.1:p.Asp1415del, XP_047305227.1:p.Asp1415dup, XP_047305232.1:p.Asp1408del, XP_047305232.1:p.Asp1408dup, NP_001374510.1:p.Asp1415del, NP_001374510.1:p.Asp1415dup, XP_047305233.1:p.Asp1408del, XP_047305233.1:p.Asp1408dup, XP_047305226.1:p.Asp1415del, XP_047305226.1:p.Asp1415dup, XP_047305234.1:p.Asp1408del, XP_047305234.1:p.Asp1408dup, XP_047305230.1:p.Asp1408del, XP_047305230.1:p.Asp1408dup, XP_047305225.1:p.Asp1415del, XP_047305225.1:p.Asp1415dup, XP_047305238.1:p.Asp1362del, XP_047305238.1:p.Asp1362dup, XP_047305231.1:p.Asp1408del, XP_047305231.1:p.Asp1408dup, NP_001374507.1:p.Asp1415del, NP_001374507.1:p.Asp1415dup, NP_001374509.1:p.Asp1415del, NP_001374509.1:p.Asp1415dup, XP_047305228.1:p.Asp1415del, XP_047305228.1:p.Asp1415dup, NP_001374512.1:p.Asp1333del, NP_001374512.1:p.Asp1333dup, XP_047305229.1:p.Asp1415del, XP_047305229.1:p.Asp1415dup, NP_001374508.1:p.Asp1415del, NP_001374508.1:p.Asp1415dup, NP_001374511.1:p.Asp1414del, NP_001374511.1:p.Asp1414dup, XP_047305237.1:p.Asp1362del, XP_047305237.1:p.Asp1362dup, XP_047305236.1:p.Asp1362del, XP_047305236.1:p.Asp1362dup, XP_047305235.1:p.Asp1362del, XP_047305235.1:p.Asp1362dup, XP_047305239.1:p.Asp691del, XP_047305239.1:p.Asp691dup

          5.

          rs1478007182 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:51414830 (GRCh38)
            3:51452284 (GRCh37)
            Canonical SPDI:
            NC_000003.12:51414829:G:A
            Gene:
            DCAF1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            NC_000003.12:g.51414830G>A, NW_003315910.1:g.36153G>A, NC_000003.11:g.51452284G>A, XM_005276755.6:c.3631C>T, XM_005276755.5:c.3631C>T, XM_005276755.4:c.3631C>T, XM_005276755.3:c.3631C>T, XM_005276755.2:c.3631C>T, XM_005276755.1:c.3631C>T, XM_005276753.6:c.3631C>T, XM_005276753.5:c.3631C>T, XM_005276753.4:c.3631C>T, XM_005276753.3:c.3631C>T, XM_005276753.2:c.3631C>T, XM_005276753.1:c.3631C>T, XM_011534273.4:c.3631C>T, XM_011534273.3:c.3631C>T, XM_011534273.2:c.3631C>T, XM_011534273.1:c.3631C>T, XM_011534275.4:c.3631C>T, XM_011534275.3:c.3631C>T, XM_011534275.2:c.3631C>T, XM_011534275.1:c.3631C>T, XM_017007549.3:c.3631C>T, XM_017007549.2:c.3631C>T, XM_017007549.1:c.3631C>T, NM_014703.3:c.3631C>T, NM_014703.2:c.3631C>T, XM_017007547.3:c.3631C>T, XM_017007547.2:c.3631C>T, XM_017007547.1:c.3631C>T, XR_001740385.3:n.3954C>T, XR_001740385.2:n.3968C>T, XR_001740385.1:n.3967C>T, NM_001171904.2:c.3628C>T, NM_001171904.1:c.3628C>T, NM_001349169.2:c.3631C>T, NM_001349169.1:c.3631C>T, NM_001349168.2:c.3631C>T, NM_001349168.1:c.3631C>T, NM_001349170.2:c.3631C>T, NM_001349170.1:c.3631C>T, NM_001349171.2:c.3385C>T, NM_001349171.1:c.3385C>T, NR_146065.2:n.3782C>T, NR_146065.1:n.3769C>T, XR_007095775.1:n.3782C>T, XM_047449271.1:c.3631C>T, XM_047449276.1:c.3631C>T, NM_001387581.1:c.3631C>T, XM_047449277.1:c.3631C>T, XM_047449270.1:c.3631C>T, XM_047449278.1:c.3631C>T, XM_047449274.1:c.3631C>T, XM_047449269.1:c.3631C>T, XM_047449282.1:c.3472C>T, XM_047449275.1:c.3631C>T, NM_001387578.1:c.3631C>T, NM_001387580.1:c.3631C>T, XM_047449272.1:c.3631C>T, NM_001387583.1:c.3385C>T, XM_047449273.1:c.3631C>T, NM_001387579.1:c.3631C>T, NM_001387582.1:c.3628C>T, XM_047449281.1:c.3472C>T, XM_047449280.1:c.3472C>T, XM_047449279.1:c.3472C>T, XR_007095772.1:n.3929C>T, XR_007095773.1:n.3882C>T, XR_007095774.1:n.3782C>T, NR_170668.1:n.3829C>T, XR_007095777.1:n.3829C>T, XR_007095778.1:n.3770C>T, XR_007095776.1:n.3782C>T, XM_047449283.1:c.1459C>T

            6.

            rs1477829564 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:51420447 (GRCh38)
              3:51457901 (GRCh37)
              Canonical SPDI:
              NC_000003.12:51420446:T:C
              Gene:
              DCAF1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000011/3 (TOPMED)
              HGVS:
              NC_000003.12:g.51420447T>C, NW_003315910.1:g.41770T>C, NC_000003.11:g.51457901T>C, XM_005276755.6:c.2523A>G, XM_005276755.5:c.2523A>G, XM_005276755.4:c.2523A>G, XM_005276755.3:c.2523A>G, XM_005276755.2:c.2523A>G, XM_005276755.1:c.2523A>G, XM_005276753.6:c.2523A>G, XM_005276753.5:c.2523A>G, XM_005276753.4:c.2523A>G, XM_005276753.3:c.2523A>G, XM_005276753.2:c.2523A>G, XM_005276753.1:c.2523A>G, XM_011534273.4:c.2523A>G, XM_011534273.3:c.2523A>G, XM_011534273.2:c.2523A>G, XM_011534273.1:c.2523A>G, XM_011534275.4:c.2523A>G, XM_011534275.3:c.2523A>G, XM_011534275.2:c.2523A>G, XM_011534275.1:c.2523A>G, XM_017007549.3:c.2523A>G, XM_017007549.2:c.2523A>G, XM_017007549.1:c.2523A>G, NM_014703.3:c.2523A>G, NM_014703.2:c.2523A>G, XM_017007547.3:c.2523A>G, XM_017007547.2:c.2523A>G, XM_017007547.1:c.2523A>G, XR_001740385.3:n.2846A>G, XR_001740385.2:n.2860A>G, XR_001740385.1:n.2859A>G, NM_001171904.2:c.2520A>G, NM_001171904.1:c.2520A>G, NM_001349169.2:c.2523A>G, NM_001349169.1:c.2523A>G, NM_001349168.2:c.2523A>G, NM_001349168.1:c.2523A>G, NM_001349170.2:c.2523A>G, NM_001349170.1:c.2523A>G, NM_001349171.2:c.2277A>G, NM_001349171.1:c.2277A>G, NR_146065.2:n.2674A>G, NR_146065.1:n.2661A>G, XR_007095775.1:n.2674A>G, XM_047449271.1:c.2523A>G, XM_047449276.1:c.2523A>G, NM_001387581.1:c.2523A>G, XM_047449277.1:c.2523A>G, XM_047449270.1:c.2523A>G, XM_047449278.1:c.2523A>G, XM_047449274.1:c.2523A>G, XM_047449269.1:c.2523A>G, XM_047449282.1:c.2364A>G, XM_047449275.1:c.2523A>G, NM_001387578.1:c.2523A>G, NM_001387580.1:c.2523A>G, XM_047449272.1:c.2523A>G, NM_001387583.1:c.2277A>G, XM_047449273.1:c.2523A>G, NM_001387579.1:c.2523A>G, NM_001387582.1:c.2520A>G, XM_047449281.1:c.2364A>G, XM_047449280.1:c.2364A>G, XM_047449279.1:c.2364A>G, XR_007095772.1:n.2821A>G, XR_007095773.1:n.2774A>G, XR_007095774.1:n.2674A>G, NR_170668.1:n.2721A>G, XR_007095777.1:n.2721A>G, XR_007095778.1:n.2662A>G, XR_007095776.1:n.2674A>G, XM_047449283.1:c.351A>G

              7.

              rs1476779584 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                3:51418738 (GRCh38)
                3:51456192 (GRCh37)
                Canonical SPDI:
                NC_000003.12:51418737:T:G
                Gene:
                DCAF1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000003.12:g.51418738T>G, NW_003315910.1:g.40061T>G, NC_000003.11:g.51456192T>G, XM_005276755.6:c.3375A>C, XM_005276755.5:c.3375A>C, XM_005276755.4:c.3375A>C, XM_005276755.3:c.3375A>C, XM_005276755.2:c.3375A>C, XM_005276755.1:c.3375A>C, XM_005276753.6:c.3375A>C, XM_005276753.5:c.3375A>C, XM_005276753.4:c.3375A>C, XM_005276753.3:c.3375A>C, XM_005276753.2:c.3375A>C, XM_005276753.1:c.3375A>C, XM_011534273.4:c.3375A>C, XM_011534273.3:c.3375A>C, XM_011534273.2:c.3375A>C, XM_011534273.1:c.3375A>C, XM_011534275.4:c.3375A>C, XM_011534275.3:c.3375A>C, XM_011534275.2:c.3375A>C, XM_011534275.1:c.3375A>C, XM_017007549.3:c.3375A>C, XM_017007549.2:c.3375A>C, XM_017007549.1:c.3375A>C, NM_014703.3:c.3375A>C, NM_014703.2:c.3375A>C, XM_017007547.3:c.3375A>C, XM_017007547.2:c.3375A>C, XM_017007547.1:c.3375A>C, XR_001740385.3:n.3698A>C, XR_001740385.2:n.3712A>C, XR_001740385.1:n.3711A>C, NM_001171904.2:c.3372A>C, NM_001171904.1:c.3372A>C, NM_001349169.2:c.3375A>C, NM_001349169.1:c.3375A>C, NM_001349168.2:c.3375A>C, NM_001349168.1:c.3375A>C, NM_001349170.2:c.3375A>C, NM_001349170.1:c.3375A>C, NM_001349171.2:c.3129A>C, NM_001349171.1:c.3129A>C, NR_146065.2:n.3526A>C, NR_146065.1:n.3513A>C, XR_007095775.1:n.3526A>C, XM_047449271.1:c.3375A>C, XM_047449276.1:c.3375A>C, NM_001387581.1:c.3375A>C, XM_047449277.1:c.3375A>C, XM_047449270.1:c.3375A>C, XM_047449278.1:c.3375A>C, XM_047449274.1:c.3375A>C, XM_047449269.1:c.3375A>C, XM_047449282.1:c.3216A>C, XM_047449275.1:c.3375A>C, NM_001387578.1:c.3375A>C, NM_001387580.1:c.3375A>C, XM_047449272.1:c.3375A>C, NM_001387583.1:c.3129A>C, XM_047449273.1:c.3375A>C, NM_001387579.1:c.3375A>C, NM_001387582.1:c.3372A>C, XM_047449281.1:c.3216A>C, XM_047449280.1:c.3216A>C, XM_047449279.1:c.3216A>C, XR_007095772.1:n.3673A>C, XR_007095773.1:n.3626A>C, XR_007095774.1:n.3526A>C, NR_170668.1:n.3573A>C, XR_007095777.1:n.3573A>C, XR_007095778.1:n.3514A>C, XR_007095776.1:n.3526A>C, XM_047449283.1:c.1203A>C

                8.

                rs1473460440 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ATCATCATCTTC>- [Show Flanks]
                  Chromosome:
                  3:51403363 (GRCh38)
                  3:51440797 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:51403348:TCATCATCATCTTCATCATCATCTTC:TCATCATCATCTTC
                  Gene:
                  DCAF1 (Varview)
                  Functional Consequence:
                  inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TCATCATCATCTTC=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.51403351ATCATCATCTTC[1], NW_003315910.1:g.24674ATCATCATCTTC[1], NC_000003.11:g.51440785ATCATCATCTTC[1], XM_005276755.6:c.4236AGATGATGATGA[1], XM_005276755.5:c.4236AGATGATGATGA[1], XM_005276755.4:c.4236AGATGATGATGA[1], XM_005276755.3:c.4236AGATGATGATGA[1], XM_005276755.2:c.4236AGATGATGATGA[1], XM_005276755.1:c.4236AGATGATGATGA[1], XM_005276753.6:c.4236AGATGATGATGA[1], XM_005276753.5:c.4236AGATGATGATGA[1], XM_005276753.4:c.4236AGATGATGATGA[1], XM_005276753.3:c.4236AGATGATGATGA[1], XM_005276753.2:c.4236AGATGATGATGA[1], XM_005276753.1:c.4236AGATGATGATGA[1], XM_011534273.4:c.4236AGATGATGATGA[1], XM_011534273.3:c.4236AGATGATGATGA[1], XM_011534273.2:c.4236AGATGATGATGA[1], XM_011534273.1:c.4236AGATGATGATGA[1], XM_011534275.4:c.4236AGATGATGATGA[1], XM_011534275.3:c.4236AGATGATGATGA[1], XM_011534275.2:c.4236AGATGATGATGA[1], XM_011534275.1:c.4236AGATGATGATGA[1], XM_017007549.3:c.4236AGATGATGATGA[1], XM_017007549.2:c.4236AGATGATGATGA[1], XM_017007549.1:c.4236AGATGATGATGA[1], NM_014703.3:c.4236AGATGATGATGA[1], NM_014703.2:c.4236AGATGATGATGA[1], XM_017007547.3:c.4236AGATGATGATGA[1], XM_017007547.2:c.4236AGATGATGATGA[1], XM_017007547.1:c.4236AGATGATGATGA[1], XR_001740385.3:n.4559AGATGATGATGA[1], XR_001740385.2:n.4573AGATGATGATGA[1], XR_001740385.1:n.4572AGATGATGATGA[1], NM_001171904.2:c.4233AGATGATGATGA[1], NM_001171904.1:c.4233AGATGATGATGA[1], NM_001349169.2:c.4236AGATGATGATGA[1], NM_001349169.1:c.4236AGATGATGATGA[1], NM_001349168.2:c.4236AGATGATGATGA[1], NM_001349168.1:c.4236AGATGATGATGA[1], NM_001349170.2:c.4236AGATGATGATGA[1], NM_001349170.1:c.4236AGATGATGATGA[1], NM_001349171.2:c.3990AGATGATGATGA[1], NM_001349171.1:c.3990AGATGATGATGA[1], NR_146065.2:n.4387AGATGATGATGA[1], NR_146065.1:n.4374AGATGATGATGA[1], XR_007095775.1:n.4387AGATGATGATGA[1], XM_047449271.1:c.4236AGATGATGATGA[1], XM_047449276.1:c.4215AGATGATGATGA[1], NM_001387581.1:c.4236AGATGATGATGA[1], XM_047449277.1:c.4215AGATGATGATGA[1], XM_047449270.1:c.4236AGATGATGATGA[1], XM_047449278.1:c.4215AGATGATGATGA[1], XM_047449274.1:c.4215AGATGATGATGA[1], XM_047449269.1:c.4236AGATGATGATGA[1], XM_047449282.1:c.4077AGATGATGATGA[1], XM_047449275.1:c.4215AGATGATGATGA[1], NM_001387578.1:c.4236AGATGATGATGA[1], NM_001387580.1:c.4236AGATGATGATGA[1], XM_047449272.1:c.4236AGATGATGATGA[1], NM_001387583.1:c.3990AGATGATGATGA[1], XM_047449273.1:c.4236AGATGATGATGA[1], NM_001387579.1:c.4236AGATGATGATGA[1], NM_001387582.1:c.4233AGATGATGATGA[1], XM_047449281.1:c.4077AGATGATGATGA[1], XM_047449280.1:c.4077AGATGATGATGA[1], XM_047449279.1:c.4077AGATGATGATGA[1], XR_007095772.1:n.4534AGATGATGATGA[1], XR_007095773.1:n.4487AGATGATGATGA[1], XR_007095774.1:n.4387AGATGATGATGA[1], NR_170668.1:n.4434AGATGATGATGA[1], XR_007095777.1:n.4413AGATGATGATGA[1], XR_007095778.1:n.4375AGATGATGATGA[1], XR_007095776.1:n.4366AGATGATGATGA[1], XM_047449283.1:c.2064AGATGATGATGA[1], XP_005276812.1:p.1412EDDD[1], XP_005276810.1:p.1412EDDD[1], XP_011532575.1:p.1412EDDD[1], XP_011532577.1:p.1412EDDD[1], XP_016863038.1:p.1412EDDD[1], NP_055518.1:p.1412EDDD[1], XP_016863036.1:p.1412EDDD[1], NP_001165375.1:p.1411EDDD[1], NP_001336098.1:p.1412EDDD[1], NP_001336097.1:p.1412EDDD[1], NP_001336099.1:p.1412EDDD[1], NP_001336100.1:p.1330EDDD[1], XP_047305227.1:p.1412EDDD[1], XP_047305232.1:p.1405EDDD[1], NP_001374510.1:p.1412EDDD[1], XP_047305233.1:p.1405EDDD[1], XP_047305226.1:p.1412EDDD[1], XP_047305234.1:p.1405EDDD[1], XP_047305230.1:p.1405EDDD[1], XP_047305225.1:p.1412EDDD[1], XP_047305238.1:p.1359EDDD[1], XP_047305231.1:p.1405EDDD[1], NP_001374507.1:p.1412EDDD[1], NP_001374509.1:p.1412EDDD[1], XP_047305228.1:p.1412EDDD[1], NP_001374512.1:p.1330EDDD[1], XP_047305229.1:p.1412EDDD[1], NP_001374508.1:p.1412EDDD[1], NP_001374511.1:p.1411EDDD[1], XP_047305237.1:p.1359EDDD[1], XP_047305236.1:p.1359EDDD[1], XP_047305235.1:p.1359EDDD[1], XP_047305239.1:p.688EDDD[1]

                  9.

                  rs1473202982 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C,G [Show Flanks]
                    Chromosome:
                    3:51443887 (GRCh38)
                    3:51477903 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:51443886:T:C,NC_000003.12:51443886:T:G
                    Gene:
                    DCAF1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.51443887T>C, NC_000003.12:g.51443887T>G, NC_000003.11:g.51477903T>C, NC_000003.11:g.51477903T>G, NW_003315910.1:g.65210T>C, NW_003315910.1:g.65210T>G, XM_005276755.6:c.392A>G, XM_005276755.6:c.392A>C, XM_005276755.5:c.392A>G, XM_005276755.5:c.392A>C, XM_005276755.4:c.392A>G, XM_005276755.4:c.392A>C, XM_005276755.3:c.392A>G, XM_005276755.3:c.392A>C, XM_005276755.2:c.392A>G, XM_005276755.2:c.392A>C, XM_005276755.1:c.392A>G, XM_005276755.1:c.392A>C, XM_005276753.6:c.392A>G, XM_005276753.6:c.392A>C, XM_005276753.5:c.392A>G, XM_005276753.5:c.392A>C, XM_005276753.4:c.392A>G, XM_005276753.4:c.392A>C, XM_005276753.3:c.392A>G, XM_005276753.3:c.392A>C, XM_005276753.2:c.392A>G, XM_005276753.2:c.392A>C, XM_005276753.1:c.392A>G, XM_005276753.1:c.392A>C, XM_011534273.4:c.392A>G, XM_011534273.4:c.392A>C, XM_011534273.3:c.392A>G, XM_011534273.3:c.392A>C, XM_011534273.2:c.392A>G, XM_011534273.2:c.392A>C, XM_011534273.1:c.392A>G, XM_011534273.1:c.392A>C, XM_011534275.4:c.392A>G, XM_011534275.4:c.392A>C, XM_011534275.3:c.392A>G, XM_011534275.3:c.392A>C, XM_011534275.2:c.392A>G, XM_011534275.2:c.392A>C, XM_011534275.1:c.392A>G, XM_011534275.1:c.392A>C, XM_017007549.3:c.392A>G, XM_017007549.3:c.392A>C, XM_017007549.2:c.392A>G, XM_017007549.2:c.392A>C, XM_017007549.1:c.392A>G, XM_017007549.1:c.392A>C, NM_014703.3:c.392A>G, NM_014703.3:c.392A>C, NM_014703.2:c.392A>G, NM_014703.2:c.392A>C, XM_017007547.3:c.392A>G, XM_017007547.3:c.392A>C, XM_017007547.2:c.392A>G, XM_017007547.2:c.392A>C, XM_017007547.1:c.392A>G, XM_017007547.1:c.392A>C, XR_001740385.3:n.715A>G, XR_001740385.3:n.715A>C, XR_001740385.2:n.729A>G, XR_001740385.2:n.729A>C, XR_001740385.1:n.728A>G, XR_001740385.1:n.728A>C, NM_001171904.2:c.389A>G, NM_001171904.2:c.389A>C, NM_001171904.1:c.389A>G, NM_001171904.1:c.389A>C, NM_001349169.2:c.392A>G, NM_001349169.2:c.392A>C, NM_001349169.1:c.392A>G, NM_001349169.1:c.392A>C, NM_001349168.2:c.392A>G, NM_001349168.2:c.392A>C, NM_001349168.1:c.392A>G, NM_001349168.1:c.392A>C, NM_001349170.2:c.392A>G, NM_001349170.2:c.392A>C, NM_001349170.1:c.392A>G, NM_001349170.1:c.392A>C, NM_001349171.2:c.146A>G, NM_001349171.2:c.146A>C, NM_001349171.1:c.146A>G, NM_001349171.1:c.146A>C, NR_146065.2:n.543A>G, NR_146065.2:n.543A>C, NR_146065.1:n.530A>G, NR_146065.1:n.530A>C, XR_007095775.1:n.543A>G, XR_007095775.1:n.543A>C, XM_047449271.1:c.392A>G, XM_047449271.1:c.392A>C, XM_047449276.1:c.392A>G, XM_047449276.1:c.392A>C, NM_001387581.1:c.392A>G, NM_001387581.1:c.392A>C, XM_047449277.1:c.392A>G, XM_047449277.1:c.392A>C, XM_047449270.1:c.392A>G, XM_047449270.1:c.392A>C, XM_047449278.1:c.392A>G, XM_047449278.1:c.392A>C, XM_047449274.1:c.392A>G, XM_047449274.1:c.392A>C, XM_047449269.1:c.392A>G, XM_047449269.1:c.392A>C, XM_047449282.1:c.392A>G, XM_047449282.1:c.392A>C, XM_047449275.1:c.392A>G, XM_047449275.1:c.392A>C, NM_001387578.1:c.392A>G, NM_001387578.1:c.392A>C, NM_001387580.1:c.392A>G, NM_001387580.1:c.392A>C, XM_047449272.1:c.392A>G, XM_047449272.1:c.392A>C, NM_001387583.1:c.146A>G, NM_001387583.1:c.146A>C, XM_047449273.1:c.392A>G, XM_047449273.1:c.392A>C, NM_001387579.1:c.392A>G, NM_001387579.1:c.392A>C, NM_001387582.1:c.389A>G, NM_001387582.1:c.389A>C, XM_047449281.1:c.392A>G, XM_047449281.1:c.392A>C, XM_047449280.1:c.392A>G, XM_047449280.1:c.392A>C, XM_047449279.1:c.392A>G, XM_047449279.1:c.392A>C, XR_007095772.1:n.690A>G, XR_007095772.1:n.690A>C, XR_007095773.1:n.643A>G, XR_007095773.1:n.643A>C, XR_007095774.1:n.543A>G, XR_007095774.1:n.543A>C, NR_170668.1:n.590A>G, NR_170668.1:n.590A>C, XR_007095777.1:n.590A>G, XR_007095777.1:n.590A>C, XR_007095778.1:n.690A>G, XR_007095778.1:n.690A>C, XR_007095776.1:n.543A>G, XR_007095776.1:n.543A>C, XP_005276812.1:p.Asn131Ser, XP_005276812.1:p.Asn131Thr, XP_005276810.1:p.Asn131Ser, XP_005276810.1:p.Asn131Thr, XP_011532575.1:p.Asn131Ser, XP_011532575.1:p.Asn131Thr, XP_011532577.1:p.Asn131Ser, XP_011532577.1:p.Asn131Thr, XP_016863038.1:p.Asn131Ser, XP_016863038.1:p.Asn131Thr, NP_055518.1:p.Asn131Ser, NP_055518.1:p.Asn131Thr, XP_016863036.1:p.Asn131Ser, XP_016863036.1:p.Asn131Thr, NP_001165375.1:p.Asn130Ser, NP_001165375.1:p.Asn130Thr, NP_001336098.1:p.Asn131Ser, NP_001336098.1:p.Asn131Thr, NP_001336097.1:p.Asn131Ser, NP_001336097.1:p.Asn131Thr, NP_001336099.1:p.Asn131Ser, NP_001336099.1:p.Asn131Thr, NP_001336100.1:p.Asn49Ser, NP_001336100.1:p.Asn49Thr, XP_047305227.1:p.Asn131Ser, XP_047305227.1:p.Asn131Thr, XP_047305232.1:p.Asn131Ser, XP_047305232.1:p.Asn131Thr, NP_001374510.1:p.Asn131Ser, NP_001374510.1:p.Asn131Thr, XP_047305233.1:p.Asn131Ser, XP_047305233.1:p.Asn131Thr, XP_047305226.1:p.Asn131Ser, XP_047305226.1:p.Asn131Thr, XP_047305234.1:p.Asn131Ser, XP_047305234.1:p.Asn131Thr, XP_047305230.1:p.Asn131Ser, XP_047305230.1:p.Asn131Thr, XP_047305225.1:p.Asn131Ser, XP_047305225.1:p.Asn131Thr, XP_047305238.1:p.Asn131Ser, XP_047305238.1:p.Asn131Thr, XP_047305231.1:p.Asn131Ser, XP_047305231.1:p.Asn131Thr, NP_001374507.1:p.Asn131Ser, NP_001374507.1:p.Asn131Thr, NP_001374509.1:p.Asn131Ser, NP_001374509.1:p.Asn131Thr, XP_047305228.1:p.Asn131Ser, XP_047305228.1:p.Asn131Thr, NP_001374512.1:p.Asn49Ser, NP_001374512.1:p.Asn49Thr, XP_047305229.1:p.Asn131Ser, XP_047305229.1:p.Asn131Thr, NP_001374508.1:p.Asn131Ser, NP_001374508.1:p.Asn131Thr, NP_001374511.1:p.Asn130Ser, NP_001374511.1:p.Asn130Thr, XP_047305237.1:p.Asn131Ser, XP_047305237.1:p.Asn131Thr, XP_047305236.1:p.Asn131Ser, XP_047305236.1:p.Asn131Thr, XP_047305235.1:p.Asn131Ser, XP_047305235.1:p.Asn131Thr

                    10.

                    rs1473080690 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:51420091 (GRCh38)
                      3:51457545 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:51420090:A:G
                      Gene:
                      DCAF1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.51420091A>G, NW_003315910.1:g.41414A>G, NC_000003.11:g.51457545A>G, XM_005276755.6:c.2879T>C, XM_005276755.5:c.2879T>C, XM_005276755.4:c.2879T>C, XM_005276755.3:c.2879T>C, XM_005276755.2:c.2879T>C, XM_005276755.1:c.2879T>C, XM_005276753.6:c.2879T>C, XM_005276753.5:c.2879T>C, XM_005276753.4:c.2879T>C, XM_005276753.3:c.2879T>C, XM_005276753.2:c.2879T>C, XM_005276753.1:c.2879T>C, XM_011534273.4:c.2879T>C, XM_011534273.3:c.2879T>C, XM_011534273.2:c.2879T>C, XM_011534273.1:c.2879T>C, XM_011534275.4:c.2879T>C, XM_011534275.3:c.2879T>C, XM_011534275.2:c.2879T>C, XM_011534275.1:c.2879T>C, XM_017007549.3:c.2879T>C, XM_017007549.2:c.2879T>C, XM_017007549.1:c.2879T>C, NM_014703.3:c.2879T>C, NM_014703.2:c.2879T>C, XM_017007547.3:c.2879T>C, XM_017007547.2:c.2879T>C, XM_017007547.1:c.2879T>C, XR_001740385.3:n.3202T>C, XR_001740385.2:n.3216T>C, XR_001740385.1:n.3215T>C, NM_001171904.2:c.2876T>C, NM_001171904.1:c.2876T>C, NM_001349169.2:c.2879T>C, NM_001349169.1:c.2879T>C, NM_001349168.2:c.2879T>C, NM_001349168.1:c.2879T>C, NM_001349170.2:c.2879T>C, NM_001349170.1:c.2879T>C, NM_001349171.2:c.2633T>C, NM_001349171.1:c.2633T>C, NR_146065.2:n.3030T>C, NR_146065.1:n.3017T>C, XR_007095775.1:n.3030T>C, XM_047449271.1:c.2879T>C, XM_047449276.1:c.2879T>C, NM_001387581.1:c.2879T>C, XM_047449277.1:c.2879T>C, XM_047449270.1:c.2879T>C, XM_047449278.1:c.2879T>C, XM_047449274.1:c.2879T>C, XM_047449269.1:c.2879T>C, XM_047449282.1:c.2720T>C, XM_047449275.1:c.2879T>C, NM_001387578.1:c.2879T>C, NM_001387580.1:c.2879T>C, XM_047449272.1:c.2879T>C, NM_001387583.1:c.2633T>C, XM_047449273.1:c.2879T>C, NM_001387579.1:c.2879T>C, NM_001387582.1:c.2876T>C, XM_047449281.1:c.2720T>C, XM_047449280.1:c.2720T>C, XM_047449279.1:c.2720T>C, XR_007095772.1:n.3177T>C, XR_007095773.1:n.3130T>C, XR_007095774.1:n.3030T>C, NR_170668.1:n.3077T>C, XR_007095777.1:n.3077T>C, XR_007095778.1:n.3018T>C, XR_007095776.1:n.3030T>C, XM_047449283.1:c.707T>C, XP_005276812.1:p.Ile960Thr, XP_005276810.1:p.Ile960Thr, XP_011532575.1:p.Ile960Thr, XP_011532577.1:p.Ile960Thr, XP_016863038.1:p.Ile960Thr, NP_055518.1:p.Ile960Thr, XP_016863036.1:p.Ile960Thr, NP_001165375.1:p.Ile959Thr, NP_001336098.1:p.Ile960Thr, NP_001336097.1:p.Ile960Thr, NP_001336099.1:p.Ile960Thr, NP_001336100.1:p.Ile878Thr, XP_047305227.1:p.Ile960Thr, XP_047305232.1:p.Ile960Thr, NP_001374510.1:p.Ile960Thr, XP_047305233.1:p.Ile960Thr, XP_047305226.1:p.Ile960Thr, XP_047305234.1:p.Ile960Thr, XP_047305230.1:p.Ile960Thr, XP_047305225.1:p.Ile960Thr, XP_047305238.1:p.Ile907Thr, XP_047305231.1:p.Ile960Thr, NP_001374507.1:p.Ile960Thr, NP_001374509.1:p.Ile960Thr, XP_047305228.1:p.Ile960Thr, NP_001374512.1:p.Ile878Thr, XP_047305229.1:p.Ile960Thr, NP_001374508.1:p.Ile960Thr, NP_001374511.1:p.Ile959Thr, XP_047305237.1:p.Ile907Thr, XP_047305236.1:p.Ile907Thr, XP_047305235.1:p.Ile907Thr, XP_047305239.1:p.Ile236Thr

                      11.

                      rs1470693375 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        3:51441758 (GRCh38)
                        3:51475774 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:51441757:T:A,NC_000003.12:51441757:T:C
                        Gene:
                        DCAF1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        C=0.000016/4 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.51441758T>A, NC_000003.12:g.51441758T>C, NC_000003.11:g.51475774T>A, NC_000003.11:g.51475774T>C, NW_003315910.1:g.63081T>A, NW_003315910.1:g.63081T>C, XM_005276755.6:c.653A>T, XM_005276755.6:c.653A>G, XM_005276755.5:c.653A>T, XM_005276755.5:c.653A>G, XM_005276755.4:c.653A>T, XM_005276755.4:c.653A>G, XM_005276755.3:c.653A>T, XM_005276755.3:c.653A>G, XM_005276755.2:c.653A>T, XM_005276755.2:c.653A>G, XM_005276755.1:c.653A>T, XM_005276755.1:c.653A>G, XM_005276753.6:c.653A>T, XM_005276753.6:c.653A>G, XM_005276753.5:c.653A>T, XM_005276753.5:c.653A>G, XM_005276753.4:c.653A>T, XM_005276753.4:c.653A>G, XM_005276753.3:c.653A>T, XM_005276753.3:c.653A>G, XM_005276753.2:c.653A>T, XM_005276753.2:c.653A>G, XM_005276753.1:c.653A>T, XM_005276753.1:c.653A>G, XM_011534273.4:c.653A>T, XM_011534273.4:c.653A>G, XM_011534273.3:c.653A>T, XM_011534273.3:c.653A>G, XM_011534273.2:c.653A>T, XM_011534273.2:c.653A>G, XM_011534273.1:c.653A>T, XM_011534273.1:c.653A>G, XM_011534275.4:c.653A>T, XM_011534275.4:c.653A>G, XM_011534275.3:c.653A>T, XM_011534275.3:c.653A>G, XM_011534275.2:c.653A>T, XM_011534275.2:c.653A>G, XM_011534275.1:c.653A>T, XM_011534275.1:c.653A>G, XM_017007549.3:c.653A>T, XM_017007549.3:c.653A>G, XM_017007549.2:c.653A>T, XM_017007549.2:c.653A>G, XM_017007549.1:c.653A>T, XM_017007549.1:c.653A>G, NM_014703.3:c.653A>T, NM_014703.3:c.653A>G, NM_014703.2:c.653A>T, NM_014703.2:c.653A>G, XM_017007547.3:c.653A>T, XM_017007547.3:c.653A>G, XM_017007547.2:c.653A>T, XM_017007547.2:c.653A>G, XM_017007547.1:c.653A>T, XM_017007547.1:c.653A>G, XR_001740385.3:n.976A>T, XR_001740385.3:n.976A>G, XR_001740385.2:n.990A>T, XR_001740385.2:n.990A>G, XR_001740385.1:n.989A>T, XR_001740385.1:n.989A>G, NM_001171904.2:c.650A>T, NM_001171904.2:c.650A>G, NM_001171904.1:c.650A>T, NM_001171904.1:c.650A>G, NM_001349169.2:c.653A>T, NM_001349169.2:c.653A>G, NM_001349169.1:c.653A>T, NM_001349169.1:c.653A>G, NM_001349168.2:c.653A>T, NM_001349168.2:c.653A>G, NM_001349168.1:c.653A>T, NM_001349168.1:c.653A>G, NM_001349170.2:c.653A>T, NM_001349170.2:c.653A>G, NM_001349170.1:c.653A>T, NM_001349170.1:c.653A>G, NM_001349171.2:c.407A>T, NM_001349171.2:c.407A>G, NM_001349171.1:c.407A>T, NM_001349171.1:c.407A>G, NR_146065.2:n.804A>T, NR_146065.2:n.804A>G, NR_146065.1:n.791A>T, NR_146065.1:n.791A>G, XR_007095775.1:n.804A>T, XR_007095775.1:n.804A>G, XM_047449271.1:c.653A>T, XM_047449271.1:c.653A>G, XM_047449276.1:c.653A>T, XM_047449276.1:c.653A>G, NM_001387581.1:c.653A>T, NM_001387581.1:c.653A>G, XM_047449277.1:c.653A>T, XM_047449277.1:c.653A>G, XM_047449270.1:c.653A>T, XM_047449270.1:c.653A>G, XM_047449278.1:c.653A>T, XM_047449278.1:c.653A>G, XM_047449274.1:c.653A>T, XM_047449274.1:c.653A>G, XM_047449269.1:c.653A>T, XM_047449269.1:c.653A>G, XM_047449282.1:c.653A>T, XM_047449282.1:c.653A>G, XM_047449275.1:c.653A>T, XM_047449275.1:c.653A>G, NM_001387578.1:c.653A>T, NM_001387578.1:c.653A>G, NM_001387580.1:c.653A>T, NM_001387580.1:c.653A>G, XM_047449272.1:c.653A>T, XM_047449272.1:c.653A>G, NM_001387583.1:c.407A>T, NM_001387583.1:c.407A>G, XM_047449273.1:c.653A>T, XM_047449273.1:c.653A>G, NM_001387579.1:c.653A>T, NM_001387579.1:c.653A>G, NM_001387582.1:c.650A>T, NM_001387582.1:c.650A>G, XM_047449281.1:c.653A>T, XM_047449281.1:c.653A>G, XM_047449280.1:c.653A>T, XM_047449280.1:c.653A>G, XM_047449279.1:c.653A>T, XM_047449279.1:c.653A>G, XR_007095772.1:n.951A>T, XR_007095772.1:n.951A>G, XR_007095773.1:n.904A>T, XR_007095773.1:n.904A>G, XR_007095774.1:n.804A>T, XR_007095774.1:n.804A>G, NR_170668.1:n.851A>T, NR_170668.1:n.851A>G, XR_007095777.1:n.851A>T, XR_007095777.1:n.851A>G, XR_007095778.1:n.951A>T, XR_007095778.1:n.951A>G, XR_007095776.1:n.804A>T, XR_007095776.1:n.804A>G, XP_005276812.1:p.Tyr218Phe, XP_005276812.1:p.Tyr218Cys, XP_005276810.1:p.Tyr218Phe, XP_005276810.1:p.Tyr218Cys, XP_011532575.1:p.Tyr218Phe, XP_011532575.1:p.Tyr218Cys, XP_011532577.1:p.Tyr218Phe, XP_011532577.1:p.Tyr218Cys, XP_016863038.1:p.Tyr218Phe, XP_016863038.1:p.Tyr218Cys, NP_055518.1:p.Tyr218Phe, NP_055518.1:p.Tyr218Cys, XP_016863036.1:p.Tyr218Phe, XP_016863036.1:p.Tyr218Cys, NP_001165375.1:p.Tyr217Phe, NP_001165375.1:p.Tyr217Cys, NP_001336098.1:p.Tyr218Phe, NP_001336098.1:p.Tyr218Cys, NP_001336097.1:p.Tyr218Phe, NP_001336097.1:p.Tyr218Cys, NP_001336099.1:p.Tyr218Phe, NP_001336099.1:p.Tyr218Cys, NP_001336100.1:p.Tyr136Phe, NP_001336100.1:p.Tyr136Cys, XP_047305227.1:p.Tyr218Phe, XP_047305227.1:p.Tyr218Cys, XP_047305232.1:p.Tyr218Phe, XP_047305232.1:p.Tyr218Cys, NP_001374510.1:p.Tyr218Phe, NP_001374510.1:p.Tyr218Cys, XP_047305233.1:p.Tyr218Phe, XP_047305233.1:p.Tyr218Cys, XP_047305226.1:p.Tyr218Phe, XP_047305226.1:p.Tyr218Cys, XP_047305234.1:p.Tyr218Phe, XP_047305234.1:p.Tyr218Cys, XP_047305230.1:p.Tyr218Phe, XP_047305230.1:p.Tyr218Cys, XP_047305225.1:p.Tyr218Phe, XP_047305225.1:p.Tyr218Cys, XP_047305238.1:p.Tyr218Phe, XP_047305238.1:p.Tyr218Cys, XP_047305231.1:p.Tyr218Phe, XP_047305231.1:p.Tyr218Cys, NP_001374507.1:p.Tyr218Phe, NP_001374507.1:p.Tyr218Cys, NP_001374509.1:p.Tyr218Phe, NP_001374509.1:p.Tyr218Cys, XP_047305228.1:p.Tyr218Phe, XP_047305228.1:p.Tyr218Cys, NP_001374512.1:p.Tyr136Phe, NP_001374512.1:p.Tyr136Cys, XP_047305229.1:p.Tyr218Phe, XP_047305229.1:p.Tyr218Cys, NP_001374508.1:p.Tyr218Phe, NP_001374508.1:p.Tyr218Cys, NP_001374511.1:p.Tyr217Phe, NP_001374511.1:p.Tyr217Cys, XP_047305237.1:p.Tyr218Phe, XP_047305237.1:p.Tyr218Cys, XP_047305236.1:p.Tyr218Phe, XP_047305236.1:p.Tyr218Cys, XP_047305235.1:p.Tyr218Phe, XP_047305235.1:p.Tyr218Cys

                        12.

                        rs1468794301 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          3:51420238 (GRCh38)
                          3:51457692 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:51420237:G:C
                          Gene:
                          DCAF1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000008/2 (GnomAD_exomes)
                          C=0.000011/3 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:
                          NC_000003.12:g.51420238G>C, NW_003315910.1:g.41561G>C, NC_000003.11:g.51457692G>C, XM_005276755.6:c.2732C>G, XM_005276755.5:c.2732C>G, XM_005276755.4:c.2732C>G, XM_005276755.3:c.2732C>G, XM_005276755.2:c.2732C>G, XM_005276755.1:c.2732C>G, XM_005276753.6:c.2732C>G, XM_005276753.5:c.2732C>G, XM_005276753.4:c.2732C>G, XM_005276753.3:c.2732C>G, XM_005276753.2:c.2732C>G, XM_005276753.1:c.2732C>G, XM_011534273.4:c.2732C>G, XM_011534273.3:c.2732C>G, XM_011534273.2:c.2732C>G, XM_011534273.1:c.2732C>G, XM_011534275.4:c.2732C>G, XM_011534275.3:c.2732C>G, XM_011534275.2:c.2732C>G, XM_011534275.1:c.2732C>G, XM_017007549.3:c.2732C>G, XM_017007549.2:c.2732C>G, XM_017007549.1:c.2732C>G, NM_014703.3:c.2732C>G, NM_014703.2:c.2732C>G, XM_017007547.3:c.2732C>G, XM_017007547.2:c.2732C>G, XM_017007547.1:c.2732C>G, XR_001740385.3:n.3055C>G, XR_001740385.2:n.3069C>G, XR_001740385.1:n.3068C>G, NM_001171904.2:c.2729C>G, NM_001171904.1:c.2729C>G, NM_001349169.2:c.2732C>G, NM_001349169.1:c.2732C>G, NM_001349168.2:c.2732C>G, NM_001349168.1:c.2732C>G, NM_001349170.2:c.2732C>G, NM_001349170.1:c.2732C>G, NM_001349171.2:c.2486C>G, NM_001349171.1:c.2486C>G, NR_146065.2:n.2883C>G, NR_146065.1:n.2870C>G, XR_007095775.1:n.2883C>G, XM_047449271.1:c.2732C>G, XM_047449276.1:c.2732C>G, NM_001387581.1:c.2732C>G, XM_047449277.1:c.2732C>G, XM_047449270.1:c.2732C>G, XM_047449278.1:c.2732C>G, XM_047449274.1:c.2732C>G, XM_047449269.1:c.2732C>G, XM_047449282.1:c.2573C>G, XM_047449275.1:c.2732C>G, NM_001387578.1:c.2732C>G, NM_001387580.1:c.2732C>G, XM_047449272.1:c.2732C>G, NM_001387583.1:c.2486C>G, XM_047449273.1:c.2732C>G, NM_001387579.1:c.2732C>G, NM_001387582.1:c.2729C>G, XM_047449281.1:c.2573C>G, XM_047449280.1:c.2573C>G, XM_047449279.1:c.2573C>G, XR_007095772.1:n.3030C>G, XR_007095773.1:n.2983C>G, XR_007095774.1:n.2883C>G, NR_170668.1:n.2930C>G, XR_007095777.1:n.2930C>G, XR_007095778.1:n.2871C>G, XR_007095776.1:n.2883C>G, XM_047449283.1:c.560C>G, XP_005276812.1:p.Thr911Ser, XP_005276810.1:p.Thr911Ser, XP_011532575.1:p.Thr911Ser, XP_011532577.1:p.Thr911Ser, XP_016863038.1:p.Thr911Ser, NP_055518.1:p.Thr911Ser, XP_016863036.1:p.Thr911Ser, NP_001165375.1:p.Thr910Ser, NP_001336098.1:p.Thr911Ser, NP_001336097.1:p.Thr911Ser, NP_001336099.1:p.Thr911Ser, NP_001336100.1:p.Thr829Ser, XP_047305227.1:p.Thr911Ser, XP_047305232.1:p.Thr911Ser, NP_001374510.1:p.Thr911Ser, XP_047305233.1:p.Thr911Ser, XP_047305226.1:p.Thr911Ser, XP_047305234.1:p.Thr911Ser, XP_047305230.1:p.Thr911Ser, XP_047305225.1:p.Thr911Ser, XP_047305238.1:p.Thr858Ser, XP_047305231.1:p.Thr911Ser, NP_001374507.1:p.Thr911Ser, NP_001374509.1:p.Thr911Ser, XP_047305228.1:p.Thr911Ser, NP_001374512.1:p.Thr829Ser, XP_047305229.1:p.Thr911Ser, NP_001374508.1:p.Thr911Ser, NP_001374511.1:p.Thr910Ser, XP_047305237.1:p.Thr858Ser, XP_047305236.1:p.Thr858Ser, XP_047305235.1:p.Thr858Ser, XP_047305239.1:p.Thr187Ser

                          13.

                          rs1467463520 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            3:51483824 (GRCh38)
                            3:51517840 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:51483823:G:C
                            Gene:
                            DCAF1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000003.12:g.51483824G>C, NC_000003.11:g.51517840G>C, NW_003315910.1:g.105147G>C, XM_005276755.6:c.5C>G, XM_005276755.5:c.5C>G, XM_005276755.4:c.5C>G, XM_005276755.3:c.5C>G, XM_005276755.2:c.5C>G, XM_005276755.1:c.5C>G, XM_005276753.6:c.5C>G, XM_005276753.5:c.5C>G, XM_005276753.4:c.5C>G, XM_005276753.3:c.5C>G, XM_005276753.2:c.5C>G, XM_005276753.1:c.5C>G, XM_011534273.4:c.5C>G, XM_011534273.3:c.5C>G, XM_011534273.2:c.5C>G, XM_011534273.1:c.5C>G, XM_011534275.4:c.5C>G, XM_011534275.3:c.5C>G, XM_011534275.2:c.5C>G, XM_011534275.1:c.5C>G, XM_017007549.3:c.5C>G, XM_017007549.2:c.5C>G, XM_017007549.1:c.5C>G, NM_014703.3:c.5C>G, NM_014703.2:c.5C>G, XM_017007547.3:c.5C>G, XM_017007547.2:c.5C>G, XM_017007547.1:c.5C>G, XR_001740385.3:n.328C>G, XR_001740385.2:n.342C>G, XR_001740385.1:n.341C>G, NM_001171904.2:c.5C>G, NM_001171904.1:c.5C>G, NM_001349169.2:c.5C>G, NM_001349169.1:c.5C>G, NM_001349168.2:c.5C>G, NM_001349168.1:c.5C>G, NM_001349170.2:c.5C>G, NM_001349170.1:c.5C>G, NM_001349171.2:c.-168C>G, NM_001349171.1:c.-168C>G, NR_146065.2:n.156C>G, NR_146065.1:n.143C>G, XR_007095775.1:n.156C>G, XM_047449271.1:c.5C>G, XM_047449276.1:c.5C>G, NM_001387581.1:c.5C>G, XM_047449277.1:c.5C>G, XM_047449270.1:c.5C>G, XM_047449278.1:c.5C>G, XM_047449274.1:c.5C>G, XM_047449269.1:c.5C>G, XM_047449282.1:c.5C>G, XM_047449275.1:c.5C>G, NM_001387578.1:c.5C>G, NM_001387580.1:c.5C>G, XM_047449272.1:c.5C>G, NM_001387583.1:c.-168C>G, XM_047449273.1:c.5C>G, NM_001387579.1:c.5C>G, NM_001387582.1:c.5C>G, XM_047449281.1:c.5C>G, XM_047449280.1:c.5C>G, XM_047449279.1:c.5C>G, XR_007095772.1:n.303C>G, XR_007095773.1:n.256C>G, XR_007095774.1:n.156C>G, NR_170668.1:n.203C>G, XR_007095777.1:n.203C>G, XR_007095778.1:n.303C>G, XR_007095776.1:n.156C>G, XP_005276812.1:p.Thr2Ser, XP_005276810.1:p.Thr2Ser, XP_011532575.1:p.Thr2Ser, XP_011532577.1:p.Thr2Ser, XP_016863038.1:p.Thr2Ser, NP_055518.1:p.Thr2Ser, XP_016863036.1:p.Thr2Ser, NP_001165375.1:p.Thr2Ser, NP_001336098.1:p.Thr2Ser, NP_001336097.1:p.Thr2Ser, NP_001336099.1:p.Thr2Ser, XP_047305227.1:p.Thr2Ser, XP_047305232.1:p.Thr2Ser, NP_001374510.1:p.Thr2Ser, XP_047305233.1:p.Thr2Ser, XP_047305226.1:p.Thr2Ser, XP_047305234.1:p.Thr2Ser, XP_047305230.1:p.Thr2Ser, XP_047305225.1:p.Thr2Ser, XP_047305238.1:p.Thr2Ser, XP_047305231.1:p.Thr2Ser, NP_001374507.1:p.Thr2Ser, NP_001374509.1:p.Thr2Ser, XP_047305228.1:p.Thr2Ser, XP_047305229.1:p.Thr2Ser, NP_001374508.1:p.Thr2Ser, NP_001374511.1:p.Thr2Ser, XP_047305237.1:p.Thr2Ser, XP_047305236.1:p.Thr2Ser, XP_047305235.1:p.Thr2Ser

                            14.

                            rs1465436032 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,G [Show Flanks]
                              Chromosome:
                              3:51418130 (GRCh38)
                              3:51455584 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:51418129:T:A,NC_000003.12:51418129:T:G
                              Gene:
                              DCAF1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000028/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.51418130T>A, NC_000003.12:g.51418130T>G, NW_003315910.1:g.39453T>A, NW_003315910.1:g.39453T>G, NC_000003.11:g.51455584T>A, NC_000003.11:g.51455584T>G, XM_005276755.6:c.3504A>T, XM_005276755.6:c.3504A>C, XM_005276755.5:c.3504A>T, XM_005276755.5:c.3504A>C, XM_005276755.4:c.3504A>T, XM_005276755.4:c.3504A>C, XM_005276755.3:c.3504A>T, XM_005276755.3:c.3504A>C, XM_005276755.2:c.3504A>T, XM_005276755.2:c.3504A>C, XM_005276755.1:c.3504A>T, XM_005276755.1:c.3504A>C, XM_005276753.6:c.3504A>T, XM_005276753.6:c.3504A>C, XM_005276753.5:c.3504A>T, XM_005276753.5:c.3504A>C, XM_005276753.4:c.3504A>T, XM_005276753.4:c.3504A>C, XM_005276753.3:c.3504A>T, XM_005276753.3:c.3504A>C, XM_005276753.2:c.3504A>T, XM_005276753.2:c.3504A>C, XM_005276753.1:c.3504A>T, XM_005276753.1:c.3504A>C, XM_011534273.4:c.3504A>T, XM_011534273.4:c.3504A>C, XM_011534273.3:c.3504A>T, XM_011534273.3:c.3504A>C, XM_011534273.2:c.3504A>T, XM_011534273.2:c.3504A>C, XM_011534273.1:c.3504A>T, XM_011534273.1:c.3504A>C, XM_011534275.4:c.3504A>T, XM_011534275.4:c.3504A>C, XM_011534275.3:c.3504A>T, XM_011534275.3:c.3504A>C, XM_011534275.2:c.3504A>T, XM_011534275.2:c.3504A>C, XM_011534275.1:c.3504A>T, XM_011534275.1:c.3504A>C, XM_017007549.3:c.3504A>T, XM_017007549.3:c.3504A>C, XM_017007549.2:c.3504A>T, XM_017007549.2:c.3504A>C, XM_017007549.1:c.3504A>T, XM_017007549.1:c.3504A>C, NM_014703.3:c.3504A>T, NM_014703.3:c.3504A>C, NM_014703.2:c.3504A>T, NM_014703.2:c.3504A>C, XM_017007547.3:c.3504A>T, XM_017007547.3:c.3504A>C, XM_017007547.2:c.3504A>T, XM_017007547.2:c.3504A>C, XM_017007547.1:c.3504A>T, XM_017007547.1:c.3504A>C, XR_001740385.3:n.3827A>T, XR_001740385.3:n.3827A>C, XR_001740385.2:n.3841A>T, XR_001740385.2:n.3841A>C, XR_001740385.1:n.3840A>T, XR_001740385.1:n.3840A>C, NM_001171904.2:c.3501A>T, NM_001171904.2:c.3501A>C, NM_001171904.1:c.3501A>T, NM_001171904.1:c.3501A>C, NM_001349169.2:c.3504A>T, NM_001349169.2:c.3504A>C, NM_001349169.1:c.3504A>T, NM_001349169.1:c.3504A>C, NM_001349168.2:c.3504A>T, NM_001349168.2:c.3504A>C, NM_001349168.1:c.3504A>T, NM_001349168.1:c.3504A>C, NM_001349170.2:c.3504A>T, NM_001349170.2:c.3504A>C, NM_001349170.1:c.3504A>T, NM_001349170.1:c.3504A>C, NM_001349171.2:c.3258A>T, NM_001349171.2:c.3258A>C, NM_001349171.1:c.3258A>T, NM_001349171.1:c.3258A>C, NR_146065.2:n.3655A>T, NR_146065.2:n.3655A>C, NR_146065.1:n.3642A>T, NR_146065.1:n.3642A>C, XR_007095775.1:n.3655A>T, XR_007095775.1:n.3655A>C, XM_047449271.1:c.3504A>T, XM_047449271.1:c.3504A>C, XM_047449276.1:c.3504A>T, XM_047449276.1:c.3504A>C, NM_001387581.1:c.3504A>T, NM_001387581.1:c.3504A>C, XM_047449277.1:c.3504A>T, XM_047449277.1:c.3504A>C, XM_047449270.1:c.3504A>T, XM_047449270.1:c.3504A>C, XM_047449278.1:c.3504A>T, XM_047449278.1:c.3504A>C, XM_047449274.1:c.3504A>T, XM_047449274.1:c.3504A>C, XM_047449269.1:c.3504A>T, XM_047449269.1:c.3504A>C, XM_047449282.1:c.3345A>T, XM_047449282.1:c.3345A>C, XM_047449275.1:c.3504A>T, XM_047449275.1:c.3504A>C, NM_001387578.1:c.3504A>T, NM_001387578.1:c.3504A>C, NM_001387580.1:c.3504A>T, NM_001387580.1:c.3504A>C, XM_047449272.1:c.3504A>T, XM_047449272.1:c.3504A>C, NM_001387583.1:c.3258A>T, NM_001387583.1:c.3258A>C, XM_047449273.1:c.3504A>T, XM_047449273.1:c.3504A>C, NM_001387579.1:c.3504A>T, NM_001387579.1:c.3504A>C, NM_001387582.1:c.3501A>T, NM_001387582.1:c.3501A>C, XM_047449281.1:c.3345A>T, XM_047449281.1:c.3345A>C, XM_047449280.1:c.3345A>T, XM_047449280.1:c.3345A>C, XM_047449279.1:c.3345A>T, XM_047449279.1:c.3345A>C, XR_007095772.1:n.3802A>T, XR_007095772.1:n.3802A>C, XR_007095773.1:n.3755A>T, XR_007095773.1:n.3755A>C, XR_007095774.1:n.3655A>T, XR_007095774.1:n.3655A>C, NR_170668.1:n.3702A>T, NR_170668.1:n.3702A>C, XR_007095777.1:n.3702A>T, XR_007095777.1:n.3702A>C, XR_007095778.1:n.3643A>T, XR_007095778.1:n.3643A>C, XR_007095776.1:n.3655A>T, XR_007095776.1:n.3655A>C, XM_047449283.1:c.1332A>T, XM_047449283.1:c.1332A>C

                              15.

                              rs1465122143 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:51414802 (GRCh38)
                                3:51452256 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:51414801:G:A
                                Gene:
                                DCAF1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.51414802G>A, NW_003315910.1:g.36125G>A, NC_000003.11:g.51452256G>A, XM_005276755.6:c.3659C>T, XM_005276755.5:c.3659C>T, XM_005276755.4:c.3659C>T, XM_005276755.3:c.3659C>T, XM_005276755.2:c.3659C>T, XM_005276755.1:c.3659C>T, XM_005276753.6:c.3659C>T, XM_005276753.5:c.3659C>T, XM_005276753.4:c.3659C>T, XM_005276753.3:c.3659C>T, XM_005276753.2:c.3659C>T, XM_005276753.1:c.3659C>T, XM_011534273.4:c.3659C>T, XM_011534273.3:c.3659C>T, XM_011534273.2:c.3659C>T, XM_011534273.1:c.3659C>T, XM_011534275.4:c.3659C>T, XM_011534275.3:c.3659C>T, XM_011534275.2:c.3659C>T, XM_011534275.1:c.3659C>T, XM_017007549.3:c.3659C>T, XM_017007549.2:c.3659C>T, XM_017007549.1:c.3659C>T, NM_014703.3:c.3659C>T, NM_014703.2:c.3659C>T, XM_017007547.3:c.3659C>T, XM_017007547.2:c.3659C>T, XM_017007547.1:c.3659C>T, XR_001740385.3:n.3982C>T, XR_001740385.2:n.3996C>T, XR_001740385.1:n.3995C>T, NM_001171904.2:c.3656C>T, NM_001171904.1:c.3656C>T, NM_001349169.2:c.3659C>T, NM_001349169.1:c.3659C>T, NM_001349168.2:c.3659C>T, NM_001349168.1:c.3659C>T, NM_001349170.2:c.3659C>T, NM_001349170.1:c.3659C>T, NM_001349171.2:c.3413C>T, NM_001349171.1:c.3413C>T, NR_146065.2:n.3810C>T, NR_146065.1:n.3797C>T, XR_007095775.1:n.3810C>T, XM_047449271.1:c.3659C>T, XM_047449276.1:c.3659C>T, NM_001387581.1:c.3659C>T, XM_047449277.1:c.3659C>T, XM_047449270.1:c.3659C>T, XM_047449278.1:c.3659C>T, XM_047449274.1:c.3659C>T, XM_047449269.1:c.3659C>T, XM_047449282.1:c.3500C>T, XM_047449275.1:c.3659C>T, NM_001387578.1:c.3659C>T, NM_001387580.1:c.3659C>T, XM_047449272.1:c.3659C>T, NM_001387583.1:c.3413C>T, XM_047449273.1:c.3659C>T, NM_001387579.1:c.3659C>T, NM_001387582.1:c.3656C>T, XM_047449281.1:c.3500C>T, XM_047449280.1:c.3500C>T, XM_047449279.1:c.3500C>T, XR_007095772.1:n.3957C>T, XR_007095773.1:n.3910C>T, XR_007095774.1:n.3810C>T, NR_170668.1:n.3857C>T, XR_007095777.1:n.3857C>T, XR_007095778.1:n.3798C>T, XR_007095776.1:n.3810C>T, XM_047449283.1:c.1487C>T, XP_005276812.1:p.Ala1220Val, XP_005276810.1:p.Ala1220Val, XP_011532575.1:p.Ala1220Val, XP_011532577.1:p.Ala1220Val, XP_016863038.1:p.Ala1220Val, NP_055518.1:p.Ala1220Val, XP_016863036.1:p.Ala1220Val, NP_001165375.1:p.Ala1219Val, NP_001336098.1:p.Ala1220Val, NP_001336097.1:p.Ala1220Val, NP_001336099.1:p.Ala1220Val, NP_001336100.1:p.Ala1138Val, XP_047305227.1:p.Ala1220Val, XP_047305232.1:p.Ala1220Val, NP_001374510.1:p.Ala1220Val, XP_047305233.1:p.Ala1220Val, XP_047305226.1:p.Ala1220Val, XP_047305234.1:p.Ala1220Val, XP_047305230.1:p.Ala1220Val, XP_047305225.1:p.Ala1220Val, XP_047305238.1:p.Ala1167Val, XP_047305231.1:p.Ala1220Val, NP_001374507.1:p.Ala1220Val, NP_001374509.1:p.Ala1220Val, XP_047305228.1:p.Ala1220Val, NP_001374512.1:p.Ala1138Val, XP_047305229.1:p.Ala1220Val, NP_001374508.1:p.Ala1220Val, NP_001374511.1:p.Ala1219Val, XP_047305237.1:p.Ala1167Val, XP_047305236.1:p.Ala1167Val, XP_047305235.1:p.Ala1167Val, XP_047305239.1:p.Ala496Val

                                16.

                                rs1455388162 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:51422323 (GRCh38)
                                  3:51459774 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:51422322:A:G
                                  Gene:
                                  DCAF1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.51422323A>G, NW_003315910.1:g.43646A>G, NC_000003.11:g.51459774A>G, XM_005276755.6:c.1956T>C, XM_005276755.5:c.1956T>C, XM_005276755.4:c.1956T>C, XM_005276755.3:c.1956T>C, XM_005276755.2:c.1956T>C, XM_005276755.1:c.1956T>C, XM_005276753.6:c.1956T>C, XM_005276753.5:c.1956T>C, XM_005276753.4:c.1956T>C, XM_005276753.3:c.1956T>C, XM_005276753.2:c.1956T>C, XM_005276753.1:c.1956T>C, XM_011534273.4:c.1956T>C, XM_011534273.3:c.1956T>C, XM_011534273.2:c.1956T>C, XM_011534273.1:c.1956T>C, XM_011534275.4:c.1956T>C, XM_011534275.3:c.1956T>C, XM_011534275.2:c.1956T>C, XM_011534275.1:c.1956T>C, XM_017007549.3:c.1956T>C, XM_017007549.2:c.1956T>C, XM_017007549.1:c.1956T>C, NM_014703.3:c.1956T>C, NM_014703.2:c.1956T>C, XM_017007547.3:c.1956T>C, XM_017007547.2:c.1956T>C, XM_017007547.1:c.1956T>C, XR_001740385.3:n.2279T>C, XR_001740385.2:n.2293T>C, XR_001740385.1:n.2292T>C, NM_001171904.2:c.1953T>C, NM_001171904.1:c.1953T>C, NM_001349169.2:c.1956T>C, NM_001349169.1:c.1956T>C, NM_001349168.2:c.1956T>C, NM_001349168.1:c.1956T>C, NM_001349170.2:c.1956T>C, NM_001349170.1:c.1956T>C, NM_001349171.2:c.1710T>C, NM_001349171.1:c.1710T>C, NR_146065.2:n.2107T>C, NR_146065.1:n.2094T>C, XR_007095775.1:n.2107T>C, XM_047449271.1:c.1956T>C, XM_047449276.1:c.1956T>C, NM_001387581.1:c.1956T>C, XM_047449277.1:c.1956T>C, XM_047449270.1:c.1956T>C, XM_047449278.1:c.1956T>C, XM_047449274.1:c.1956T>C, XM_047449269.1:c.1956T>C, XM_047449282.1:c.1797T>C, XM_047449275.1:c.1956T>C, NM_001387578.1:c.1956T>C, NM_001387580.1:c.1956T>C, XM_047449272.1:c.1956T>C, NM_001387583.1:c.1710T>C, XM_047449273.1:c.1956T>C, NM_001387579.1:c.1956T>C, NM_001387582.1:c.1953T>C, XM_047449281.1:c.1797T>C, XM_047449280.1:c.1797T>C, XM_047449279.1:c.1797T>C, XR_007095772.1:n.2254T>C, XR_007095773.1:n.2207T>C, XR_007095774.1:n.2107T>C, NR_170668.1:n.2154T>C, XR_007095777.1:n.2154T>C, XR_007095778.1:n.2095T>C, XR_007095776.1:n.2107T>C, XM_047449283.1:c.-217T>C

                                  17.

                                  rs1454630388 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:51412996 (GRCh38)
                                    3:51450450 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:51412995:A:G
                                    Gene:
                                    DCAF1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000068/3 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000016/4 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.51412996A>G, NW_003315910.1:g.34319A>G, NC_000003.11:g.51450450A>G, XM_005276755.6:c.4107T>C, XM_005276755.5:c.4107T>C, XM_005276755.4:c.4107T>C, XM_005276755.3:c.4107T>C, XM_005276755.2:c.4107T>C, XM_005276755.1:c.4107T>C, XM_005276753.6:c.4107T>C, XM_005276753.5:c.4107T>C, XM_005276753.4:c.4107T>C, XM_005276753.3:c.4107T>C, XM_005276753.2:c.4107T>C, XM_005276753.1:c.4107T>C, XM_011534273.4:c.4107T>C, XM_011534273.3:c.4107T>C, XM_011534273.2:c.4107T>C, XM_011534273.1:c.4107T>C, XM_011534275.4:c.4107T>C, XM_011534275.3:c.4107T>C, XM_011534275.2:c.4107T>C, XM_011534275.1:c.4107T>C, XM_017007549.3:c.4107T>C, XM_017007549.2:c.4107T>C, XM_017007549.1:c.4107T>C, NM_014703.3:c.4107T>C, NM_014703.2:c.4107T>C, XM_017007547.3:c.4107T>C, XM_017007547.2:c.4107T>C, XM_017007547.1:c.4107T>C, XR_001740385.3:n.4430T>C, XR_001740385.2:n.4444T>C, XR_001740385.1:n.4443T>C, NM_001171904.2:c.4104T>C, NM_001171904.1:c.4104T>C, NM_001349169.2:c.4107T>C, NM_001349169.1:c.4107T>C, NM_001349168.2:c.4107T>C, NM_001349168.1:c.4107T>C, NM_001349170.2:c.4107T>C, NM_001349170.1:c.4107T>C, NM_001349171.2:c.3861T>C, NM_001349171.1:c.3861T>C, NR_146065.2:n.4258T>C, NR_146065.1:n.4245T>C, XR_007095775.1:n.4258T>C, XM_047449271.1:c.4107T>C, XM_047449276.1:c.4086T>C, NM_001387581.1:c.4107T>C, XM_047449277.1:c.4086T>C, XM_047449270.1:c.4107T>C, XM_047449278.1:c.4086T>C, XM_047449274.1:c.4086T>C, XM_047449269.1:c.4107T>C, XM_047449282.1:c.3948T>C, XM_047449275.1:c.4086T>C, NM_001387578.1:c.4107T>C, NM_001387580.1:c.4107T>C, XM_047449272.1:c.4107T>C, NM_001387583.1:c.3861T>C, XM_047449273.1:c.4107T>C, NM_001387579.1:c.4107T>C, NM_001387582.1:c.4104T>C, XM_047449281.1:c.3948T>C, XM_047449280.1:c.3948T>C, XM_047449279.1:c.3948T>C, XR_007095772.1:n.4405T>C, XR_007095773.1:n.4358T>C, XR_007095774.1:n.4258T>C, NR_170668.1:n.4305T>C, XR_007095777.1:n.4284T>C, XR_007095778.1:n.4246T>C, XR_007095776.1:n.4237T>C, XM_047449283.1:c.1935T>C

                                    18.

                                    rs1453968054 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:51422313 (GRCh38)
                                      3:51459764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:51422312:T:C
                                      Gene:
                                      DCAF1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.51422313T>C, NW_003315910.1:g.43636T>C, NC_000003.11:g.51459764T>C, XM_005276755.6:c.1966A>G, XM_005276755.5:c.1966A>G, XM_005276755.4:c.1966A>G, XM_005276755.3:c.1966A>G, XM_005276755.2:c.1966A>G, XM_005276755.1:c.1966A>G, XM_005276753.6:c.1966A>G, XM_005276753.5:c.1966A>G, XM_005276753.4:c.1966A>G, XM_005276753.3:c.1966A>G, XM_005276753.2:c.1966A>G, XM_005276753.1:c.1966A>G, XM_011534273.4:c.1966A>G, XM_011534273.3:c.1966A>G, XM_011534273.2:c.1966A>G, XM_011534273.1:c.1966A>G, XM_011534275.4:c.1966A>G, XM_011534275.3:c.1966A>G, XM_011534275.2:c.1966A>G, XM_011534275.1:c.1966A>G, XM_017007549.3:c.1966A>G, XM_017007549.2:c.1966A>G, XM_017007549.1:c.1966A>G, NM_014703.3:c.1966A>G, NM_014703.2:c.1966A>G, XM_017007547.3:c.1966A>G, XM_017007547.2:c.1966A>G, XM_017007547.1:c.1966A>G, XR_001740385.3:n.2289A>G, XR_001740385.2:n.2303A>G, XR_001740385.1:n.2302A>G, NM_001171904.2:c.1963A>G, NM_001171904.1:c.1963A>G, NM_001349169.2:c.1966A>G, NM_001349169.1:c.1966A>G, NM_001349168.2:c.1966A>G, NM_001349168.1:c.1966A>G, NM_001349170.2:c.1966A>G, NM_001349170.1:c.1966A>G, NM_001349171.2:c.1720A>G, NM_001349171.1:c.1720A>G, NR_146065.2:n.2117A>G, NR_146065.1:n.2104A>G, XR_007095775.1:n.2117A>G, XM_047449271.1:c.1966A>G, XM_047449276.1:c.1966A>G, NM_001387581.1:c.1966A>G, XM_047449277.1:c.1966A>G, XM_047449270.1:c.1966A>G, XM_047449278.1:c.1966A>G, XM_047449274.1:c.1966A>G, XM_047449269.1:c.1966A>G, XM_047449282.1:c.1807A>G, XM_047449275.1:c.1966A>G, NM_001387578.1:c.1966A>G, NM_001387580.1:c.1966A>G, XM_047449272.1:c.1966A>G, NM_001387583.1:c.1720A>G, XM_047449273.1:c.1966A>G, NM_001387579.1:c.1966A>G, NM_001387582.1:c.1963A>G, XM_047449281.1:c.1807A>G, XM_047449280.1:c.1807A>G, XM_047449279.1:c.1807A>G, XR_007095772.1:n.2264A>G, XR_007095773.1:n.2217A>G, XR_007095774.1:n.2117A>G, NR_170668.1:n.2164A>G, XR_007095777.1:n.2164A>G, XR_007095778.1:n.2105A>G, XR_007095776.1:n.2117A>G, XM_047449283.1:c.-207A>G, XP_005276812.1:p.Thr656Ala, XP_005276810.1:p.Thr656Ala, XP_011532575.1:p.Thr656Ala, XP_011532577.1:p.Thr656Ala, XP_016863038.1:p.Thr656Ala, NP_055518.1:p.Thr656Ala, XP_016863036.1:p.Thr656Ala, NP_001165375.1:p.Thr655Ala, NP_001336098.1:p.Thr656Ala, NP_001336097.1:p.Thr656Ala, NP_001336099.1:p.Thr656Ala, NP_001336100.1:p.Thr574Ala, XP_047305227.1:p.Thr656Ala, XP_047305232.1:p.Thr656Ala, NP_001374510.1:p.Thr656Ala, XP_047305233.1:p.Thr656Ala, XP_047305226.1:p.Thr656Ala, XP_047305234.1:p.Thr656Ala, XP_047305230.1:p.Thr656Ala, XP_047305225.1:p.Thr656Ala, XP_047305238.1:p.Thr603Ala, XP_047305231.1:p.Thr656Ala, NP_001374507.1:p.Thr656Ala, NP_001374509.1:p.Thr656Ala, XP_047305228.1:p.Thr656Ala, NP_001374512.1:p.Thr574Ala, XP_047305229.1:p.Thr656Ala, NP_001374508.1:p.Thr656Ala, NP_001374511.1:p.Thr655Ala, XP_047305237.1:p.Thr603Ala, XP_047305236.1:p.Thr603Ala, XP_047305235.1:p.Thr603Ala

                                      19.

                                      rs1453122275 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        3:51441554 (GRCh38)
                                        3:51475570 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:51441553:C:G
                                        Gene:
                                        DCAF1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000019/5 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.51441554C>G, NC_000003.11:g.51475570C>G, NW_003315910.1:g.62877C>G, XM_005276755.6:c.857G>C, XM_005276755.5:c.857G>C, XM_005276755.4:c.857G>C, XM_005276755.3:c.857G>C, XM_005276755.2:c.857G>C, XM_005276755.1:c.857G>C, XM_005276753.6:c.857G>C, XM_005276753.5:c.857G>C, XM_005276753.4:c.857G>C, XM_005276753.3:c.857G>C, XM_005276753.2:c.857G>C, XM_005276753.1:c.857G>C, XM_011534273.4:c.857G>C, XM_011534273.3:c.857G>C, XM_011534273.2:c.857G>C, XM_011534273.1:c.857G>C, XM_011534275.4:c.857G>C, XM_011534275.3:c.857G>C, XM_011534275.2:c.857G>C, XM_011534275.1:c.857G>C, XM_017007549.3:c.857G>C, XM_017007549.2:c.857G>C, XM_017007549.1:c.857G>C, NM_014703.3:c.857G>C, NM_014703.2:c.857G>C, XM_017007547.3:c.857G>C, XM_017007547.2:c.857G>C, XM_017007547.1:c.857G>C, XR_001740385.3:n.1180G>C, XR_001740385.2:n.1194G>C, XR_001740385.1:n.1193G>C, NM_001171904.2:c.854G>C, NM_001171904.1:c.854G>C, NM_001349169.2:c.857G>C, NM_001349169.1:c.857G>C, NM_001349168.2:c.857G>C, NM_001349168.1:c.857G>C, NM_001349170.2:c.857G>C, NM_001349170.1:c.857G>C, NM_001349171.2:c.611G>C, NM_001349171.1:c.611G>C, NR_146065.2:n.1008G>C, NR_146065.1:n.995G>C, XR_007095775.1:n.1008G>C, XM_047449271.1:c.857G>C, XM_047449276.1:c.857G>C, NM_001387581.1:c.857G>C, XM_047449277.1:c.857G>C, XM_047449270.1:c.857G>C, XM_047449278.1:c.857G>C, XM_047449274.1:c.857G>C, XM_047449269.1:c.857G>C, XM_047449282.1:c.857G>C, XM_047449275.1:c.857G>C, NM_001387578.1:c.857G>C, NM_001387580.1:c.857G>C, XM_047449272.1:c.857G>C, NM_001387583.1:c.611G>C, XM_047449273.1:c.857G>C, NM_001387579.1:c.857G>C, NM_001387582.1:c.854G>C, XM_047449281.1:c.857G>C, XM_047449280.1:c.857G>C, XM_047449279.1:c.857G>C, XR_007095772.1:n.1155G>C, XR_007095773.1:n.1108G>C, XR_007095774.1:n.1008G>C, NR_170668.1:n.1055G>C, XR_007095777.1:n.1055G>C, XR_007095778.1:n.1155G>C, XR_007095776.1:n.1008G>C, XP_005276812.1:p.Gly286Ala, XP_005276810.1:p.Gly286Ala, XP_011532575.1:p.Gly286Ala, XP_011532577.1:p.Gly286Ala, XP_016863038.1:p.Gly286Ala, NP_055518.1:p.Gly286Ala, XP_016863036.1:p.Gly286Ala, NP_001165375.1:p.Gly285Ala, NP_001336098.1:p.Gly286Ala, NP_001336097.1:p.Gly286Ala, NP_001336099.1:p.Gly286Ala, NP_001336100.1:p.Gly204Ala, XP_047305227.1:p.Gly286Ala, XP_047305232.1:p.Gly286Ala, NP_001374510.1:p.Gly286Ala, XP_047305233.1:p.Gly286Ala, XP_047305226.1:p.Gly286Ala, XP_047305234.1:p.Gly286Ala, XP_047305230.1:p.Gly286Ala, XP_047305225.1:p.Gly286Ala, XP_047305238.1:p.Gly286Ala, XP_047305231.1:p.Gly286Ala, NP_001374507.1:p.Gly286Ala, NP_001374509.1:p.Gly286Ala, XP_047305228.1:p.Gly286Ala, NP_001374512.1:p.Gly204Ala, XP_047305229.1:p.Gly286Ala, NP_001374508.1:p.Gly286Ala, NP_001374511.1:p.Gly285Ala, XP_047305237.1:p.Gly286Ala, XP_047305236.1:p.Gly286Ala, XP_047305235.1:p.Gly286Ala

                                        20.

                                        rs1451351695 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:51420268 (GRCh38)
                                          3:51457722 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:51420267:C:T
                                          Gene:
                                          DCAF1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.00006/1 (TOMMO)
                                          HGVS:
                                          NC_000003.12:g.51420268C>T, NW_003315910.1:g.41591C>T, NC_000003.11:g.51457722C>T, XM_005276755.6:c.2702G>A, XM_005276755.5:c.2702G>A, XM_005276755.4:c.2702G>A, XM_005276755.3:c.2702G>A, XM_005276755.2:c.2702G>A, XM_005276755.1:c.2702G>A, XM_005276753.6:c.2702G>A, XM_005276753.5:c.2702G>A, XM_005276753.4:c.2702G>A, XM_005276753.3:c.2702G>A, XM_005276753.2:c.2702G>A, XM_005276753.1:c.2702G>A, XM_011534273.4:c.2702G>A, XM_011534273.3:c.2702G>A, XM_011534273.2:c.2702G>A, XM_011534273.1:c.2702G>A, XM_011534275.4:c.2702G>A, XM_011534275.3:c.2702G>A, XM_011534275.2:c.2702G>A, XM_011534275.1:c.2702G>A, XM_017007549.3:c.2702G>A, XM_017007549.2:c.2702G>A, XM_017007549.1:c.2702G>A, NM_014703.3:c.2702G>A, NM_014703.2:c.2702G>A, XM_017007547.3:c.2702G>A, XM_017007547.2:c.2702G>A, XM_017007547.1:c.2702G>A, XR_001740385.3:n.3025G>A, XR_001740385.2:n.3039G>A, XR_001740385.1:n.3038G>A, NM_001171904.2:c.2699G>A, NM_001171904.1:c.2699G>A, NM_001349169.2:c.2702G>A, NM_001349169.1:c.2702G>A, NM_001349168.2:c.2702G>A, NM_001349168.1:c.2702G>A, NM_001349170.2:c.2702G>A, NM_001349170.1:c.2702G>A, NM_001349171.2:c.2456G>A, NM_001349171.1:c.2456G>A, NR_146065.2:n.2853G>A, NR_146065.1:n.2840G>A, XR_007095775.1:n.2853G>A, XM_047449271.1:c.2702G>A, XM_047449276.1:c.2702G>A, NM_001387581.1:c.2702G>A, XM_047449277.1:c.2702G>A, XM_047449270.1:c.2702G>A, XM_047449278.1:c.2702G>A, XM_047449274.1:c.2702G>A, XM_047449269.1:c.2702G>A, XM_047449282.1:c.2543G>A, XM_047449275.1:c.2702G>A, NM_001387578.1:c.2702G>A, NM_001387580.1:c.2702G>A, XM_047449272.1:c.2702G>A, NM_001387583.1:c.2456G>A, XM_047449273.1:c.2702G>A, NM_001387579.1:c.2702G>A, NM_001387582.1:c.2699G>A, XM_047449281.1:c.2543G>A, XM_047449280.1:c.2543G>A, XM_047449279.1:c.2543G>A, XR_007095772.1:n.3000G>A, XR_007095773.1:n.2953G>A, XR_007095774.1:n.2853G>A, NR_170668.1:n.2900G>A, XR_007095777.1:n.2900G>A, XR_007095778.1:n.2841G>A, XR_007095776.1:n.2853G>A, XM_047449283.1:c.530G>A, XP_005276812.1:p.Arg901Gln, XP_005276810.1:p.Arg901Gln, XP_011532575.1:p.Arg901Gln, XP_011532577.1:p.Arg901Gln, XP_016863038.1:p.Arg901Gln, NP_055518.1:p.Arg901Gln, XP_016863036.1:p.Arg901Gln, NP_001165375.1:p.Arg900Gln, NP_001336098.1:p.Arg901Gln, NP_001336097.1:p.Arg901Gln, NP_001336099.1:p.Arg901Gln, NP_001336100.1:p.Arg819Gln, XP_047305227.1:p.Arg901Gln, XP_047305232.1:p.Arg901Gln, NP_001374510.1:p.Arg901Gln, XP_047305233.1:p.Arg901Gln, XP_047305226.1:p.Arg901Gln, XP_047305234.1:p.Arg901Gln, XP_047305230.1:p.Arg901Gln, XP_047305225.1:p.Arg901Gln, XP_047305238.1:p.Arg848Gln, XP_047305231.1:p.Arg901Gln, NP_001374507.1:p.Arg901Gln, NP_001374509.1:p.Arg901Gln, XP_047305228.1:p.Arg901Gln, NP_001374512.1:p.Arg819Gln, XP_047305229.1:p.Arg901Gln, NP_001374508.1:p.Arg901Gln, NP_001374511.1:p.Arg900Gln, XP_047305237.1:p.Arg848Gln, XP_047305236.1:p.Arg848Gln, XP_047305235.1:p.Arg848Gln, XP_047305239.1:p.Arg177Gln

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