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Items: 1 to 20 of 1646

1.

rs1490905724 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    3:51315052 (GRCh38)
    3:51352483 (GRCh37)
    Canonical SPDI:
    NC_000003.12:51315051:A:G
    Gene:
    DOCK3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.51315052A>G, NC_000003.11:g.51352483A>G, NG_028012.2:g.644812A>G, NM_004947.5:c.3326A>G, NM_004947.4:c.3326A>G, XM_005264916.5:c.3326A>G, XM_005264916.4:c.3326A>G, XM_005264916.3:c.3326A>G, XM_005264916.2:c.3326A>G, XM_005264916.1:c.3326A>G, XM_005264918.5:c.3179A>G, XM_005264918.4:c.3179A>G, XM_005264918.3:c.3179A>G, XM_005264918.2:c.3179A>G, XM_005264918.1:c.3179A>G, XM_011533441.4:c.2291A>G, XM_011533441.3:c.2291A>G, XM_011533441.2:c.2291A>G, XM_011533441.1:c.2291A>G, XM_005264914.4:c.3326A>G, XM_005264914.3:c.3326A>G, XM_005264914.2:c.3326A>G, XM_005264914.1:c.3326A>G, XM_005264915.4:c.3326A>G, XM_005264915.3:c.3326A>G, XM_005264915.2:c.3326A>G, XM_005264915.1:c.3326A>G, XM_005264917.4:c.3284A>G, XM_005264917.3:c.3284A>G, XM_005264917.2:c.3284A>G, XM_005264917.1:c.3284A>G, XM_006713008.4:c.3326A>G, XM_006713008.3:c.3326A>G, XM_006713008.2:c.3326A>G, XM_006713008.1:c.3326A>G, XM_006713009.4:c.3326A>G, XM_006713009.3:c.3326A>G, XM_006713009.2:c.3326A>G, XM_006713009.1:c.3326A>G, XM_006713010.4:c.3326A>G, XM_006713010.3:c.3326A>G, XM_006713010.2:c.3326A>G, XM_006713010.1:c.3326A>G, XM_017005825.3:c.3326A>G, XM_017005825.2:c.3326A>G, XM_017005825.1:c.3326A>G, XM_017005826.3:c.3326A>G, XM_017005826.2:c.3326A>G, XM_017005826.1:c.3326A>G, XM_017005827.3:c.2513A>G, XM_017005827.2:c.2513A>G, XM_017005827.1:c.2513A>G, XM_011533443.3:c.638A>G, XM_011533443.2:c.638A>G, XM_011533443.1:c.638A>G, XM_011533445.3:c.464A>G, XM_011533445.2:c.464A>G, XM_011533445.1:c.464A>G, XM_011533444.3:c.638A>G, XM_011533444.2:c.638A>G, XM_011533444.1:c.638A>G, XM_047447595.1:c.3284A>G, XM_047447596.1:c.3284A>G, XM_047447597.1:c.3326A>G, XM_047447598.1:c.3326A>G, XM_047447599.1:c.3179A>G, XM_047447600.1:c.3326A>G, XM_047447602.1:c.3326A>G, XM_047447601.1:c.3284A>G, XM_047447603.1:c.3326A>G, XM_047447605.1:c.2972A>G, XM_047447604.1:c.3326A>G, XM_047447606.1:c.2165A>G, NP_004938.1:p.Glu1109Gly, XP_005264973.1:p.Glu1109Gly, XP_005264975.1:p.Glu1060Gly, XP_011531743.1:p.Glu764Gly, XP_005264971.1:p.Glu1109Gly, XP_005264972.1:p.Glu1109Gly, XP_005264974.1:p.Glu1095Gly, XP_006713071.1:p.Glu1109Gly, XP_006713072.1:p.Glu1109Gly, XP_006713073.1:p.Glu1109Gly, XP_016861314.1:p.Glu1109Gly, XP_016861315.1:p.Glu1109Gly, XP_016861316.1:p.Glu838Gly, XP_011531745.1:p.Glu213Gly, XP_011531747.1:p.Glu155Gly, XP_011531746.1:p.Glu213Gly, XP_047303551.1:p.Glu1095Gly, XP_047303552.1:p.Glu1095Gly, XP_047303553.1:p.Glu1109Gly, XP_047303554.1:p.Glu1109Gly, XP_047303555.1:p.Glu1060Gly, XP_047303556.1:p.Glu1109Gly, XP_047303558.1:p.Glu1109Gly, XP_047303557.1:p.Glu1095Gly, XP_047303559.1:p.Glu1109Gly, XP_047303561.1:p.Glu991Gly, XP_047303560.1:p.Glu1109Gly, XP_047303562.1:p.Glu722Gly

    2.

    rs1490319706 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      3:50778704 (GRCh38)
      3:50816135 (GRCh37)
      Canonical SPDI:
      NC_000003.12:50778703:C:G
      Gene:
      DOCK3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
      HGVS:
      NC_000003.12:g.50778704C>G, NC_000003.11:g.50816135C>G, NG_028012.2:g.108464C>G, NM_004947.5:c.67C>G, NM_004947.4:c.67C>G, XM_005264916.5:c.67C>G, XM_005264916.4:c.67C>G, XM_005264916.3:c.67C>G, XM_005264916.2:c.67C>G, XM_005264916.1:c.67C>G, XM_005264918.5:c.67C>G, XM_005264918.4:c.67C>G, XM_005264918.3:c.67C>G, XM_005264918.2:c.67C>G, XM_005264918.1:c.67C>G, XM_005264914.4:c.67C>G, XM_005264914.3:c.67C>G, XM_005264914.2:c.67C>G, XM_005264914.1:c.67C>G, XM_005264915.4:c.67C>G, XM_005264915.3:c.67C>G, XM_005264915.2:c.67C>G, XM_005264915.1:c.67C>G, XM_005264917.4:c.67C>G, XM_005264917.3:c.67C>G, XM_005264917.2:c.67C>G, XM_005264917.1:c.67C>G, XM_006713008.4:c.67C>G, XM_006713008.3:c.67C>G, XM_006713008.2:c.67C>G, XM_006713008.1:c.67C>G, XM_006713009.4:c.67C>G, XM_006713009.3:c.67C>G, XM_006713009.2:c.67C>G, XM_006713009.1:c.67C>G, XM_006713010.4:c.67C>G, XM_006713010.3:c.67C>G, XM_006713010.2:c.67C>G, XM_006713010.1:c.67C>G, XM_017005825.3:c.67C>G, XM_017005825.2:c.67C>G, XM_017005825.1:c.67C>G, XM_017005826.3:c.67C>G, XM_017005826.2:c.67C>G, XM_017005826.1:c.67C>G, XM_047447595.1:c.67C>G, XM_047447596.1:c.67C>G, XM_047447597.1:c.67C>G, XM_047447598.1:c.67C>G, XM_047447599.1:c.67C>G, XM_047447600.1:c.67C>G, XM_047447602.1:c.67C>G, XM_047447601.1:c.67C>G, XM_047447603.1:c.67C>G, XM_047447605.1:c.-427C>G, XM_047447604.1:c.67C>G, NP_004938.1:p.Gln23Glu, XP_005264973.1:p.Gln23Glu, XP_005264975.1:p.Gln23Glu, XP_005264971.1:p.Gln23Glu, XP_005264972.1:p.Gln23Glu, XP_005264974.1:p.Gln23Glu, XP_006713071.1:p.Gln23Glu, XP_006713072.1:p.Gln23Glu, XP_006713073.1:p.Gln23Glu, XP_016861314.1:p.Gln23Glu, XP_016861315.1:p.Gln23Glu, XP_047303551.1:p.Gln23Glu, XP_047303552.1:p.Gln23Glu, XP_047303553.1:p.Gln23Glu, XP_047303554.1:p.Gln23Glu, XP_047303555.1:p.Gln23Glu, XP_047303556.1:p.Gln23Glu, XP_047303558.1:p.Gln23Glu, XP_047303557.1:p.Gln23Glu, XP_047303559.1:p.Gln23Glu, XP_047303560.1:p.Gln23Glu

      3.

      rs1489877066 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        3:51310297 (GRCh38)
        3:51347728 (GRCh37)
        Canonical SPDI:
        NC_000003.12:51310296:C:A
        Gene:
        DOCK3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000019/5 (TOPMED)
        HGVS:
        NC_000003.12:g.51310297C>A, NC_000003.11:g.51347728C>A, NG_028012.2:g.640057C>A, NM_004947.5:c.2988C>A, NM_004947.4:c.2988C>A, XM_005264916.5:c.2988C>A, XM_005264916.4:c.2988C>A, XM_005264916.3:c.2988C>A, XM_005264916.2:c.2988C>A, XM_005264916.1:c.2988C>A, XM_005264918.5:c.2841C>A, XM_005264918.4:c.2841C>A, XM_005264918.3:c.2841C>A, XM_005264918.2:c.2841C>A, XM_005264918.1:c.2841C>A, XM_011533441.4:c.1953C>A, XM_011533441.3:c.1953C>A, XM_011533441.2:c.1953C>A, XM_011533441.1:c.1953C>A, XM_005264914.4:c.2988C>A, XM_005264914.3:c.2988C>A, XM_005264914.2:c.2988C>A, XM_005264914.1:c.2988C>A, XM_005264915.4:c.2988C>A, XM_005264915.3:c.2988C>A, XM_005264915.2:c.2988C>A, XM_005264915.1:c.2988C>A, XM_005264917.4:c.2946C>A, XM_005264917.3:c.2946C>A, XM_005264917.2:c.2946C>A, XM_005264917.1:c.2946C>A, XM_006713008.4:c.2988C>A, XM_006713008.3:c.2988C>A, XM_006713008.2:c.2988C>A, XM_006713008.1:c.2988C>A, XM_006713009.4:c.2988C>A, XM_006713009.3:c.2988C>A, XM_006713009.2:c.2988C>A, XM_006713009.1:c.2988C>A, XM_006713010.4:c.2988C>A, XM_006713010.3:c.2988C>A, XM_006713010.2:c.2988C>A, XM_006713010.1:c.2988C>A, XM_017005825.3:c.2988C>A, XM_017005825.2:c.2988C>A, XM_017005825.1:c.2988C>A, XM_017005826.3:c.2988C>A, XM_017005826.2:c.2988C>A, XM_017005826.1:c.2988C>A, XM_017005827.3:c.2175C>A, XM_017005827.2:c.2175C>A, XM_017005827.1:c.2175C>A, XM_011533443.3:c.300C>A, XM_011533443.2:c.300C>A, XM_011533443.1:c.300C>A, XM_011533445.3:c.126C>A, XM_011533445.2:c.126C>A, XM_011533445.1:c.126C>A, XM_011533444.3:c.300C>A, XM_011533444.2:c.300C>A, XM_011533444.1:c.300C>A, XM_047447595.1:c.2946C>A, XM_047447596.1:c.2946C>A, XM_047447597.1:c.2988C>A, XM_047447598.1:c.2988C>A, XM_047447599.1:c.2841C>A, XM_047447600.1:c.2988C>A, XM_047447602.1:c.2988C>A, XM_047447601.1:c.2946C>A, XM_047447603.1:c.2988C>A, XM_047447605.1:c.2634C>A, XM_047447604.1:c.2988C>A, XM_047447606.1:c.1827C>A, NP_004938.1:p.Asp996Glu, XP_005264973.1:p.Asp996Glu, XP_005264975.1:p.Asp947Glu, XP_011531743.1:p.Asp651Glu, XP_005264971.1:p.Asp996Glu, XP_005264972.1:p.Asp996Glu, XP_005264974.1:p.Asp982Glu, XP_006713071.1:p.Asp996Glu, XP_006713072.1:p.Asp996Glu, XP_006713073.1:p.Asp996Glu, XP_016861314.1:p.Asp996Glu, XP_016861315.1:p.Asp996Glu, XP_016861316.1:p.Asp725Glu, XP_011531745.1:p.Asp100Glu, XP_011531747.1:p.Asp42Glu, XP_011531746.1:p.Asp100Glu, XP_047303551.1:p.Asp982Glu, XP_047303552.1:p.Asp982Glu, XP_047303553.1:p.Asp996Glu, XP_047303554.1:p.Asp996Glu, XP_047303555.1:p.Asp947Glu, XP_047303556.1:p.Asp996Glu, XP_047303558.1:p.Asp996Glu, XP_047303557.1:p.Asp982Glu, XP_047303559.1:p.Asp996Glu, XP_047303561.1:p.Asp878Glu, XP_047303560.1:p.Asp996Glu, XP_047303562.1:p.Asp609Glu

        4.

        rs1489837243 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          3:51075371 (GRCh38)
          3:51112802 (GRCh37)
          Canonical SPDI:
          NC_000003.12:51075370:C:A
          Gene:
          DOCK3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          A=0.000023/6 (TOPMED)
          HGVS:
          NC_000003.12:g.51075371C>A, NC_000003.11:g.51112802C>A, NG_028012.2:g.405131C>A, NM_004947.5:c.480C>A, NM_004947.4:c.480C>A, XM_005264916.5:c.480C>A, XM_005264916.4:c.480C>A, XM_005264916.3:c.480C>A, XM_005264916.2:c.480C>A, XM_005264916.1:c.480C>A, XM_005264918.5:c.480C>A, XM_005264918.4:c.480C>A, XM_005264918.3:c.480C>A, XM_005264918.2:c.480C>A, XM_005264918.1:c.480C>A, XM_005264914.4:c.480C>A, XM_005264914.3:c.480C>A, XM_005264914.2:c.480C>A, XM_005264914.1:c.480C>A, XM_005264915.4:c.480C>A, XM_005264915.3:c.480C>A, XM_005264915.2:c.480C>A, XM_005264915.1:c.480C>A, XM_005264917.4:c.480C>A, XM_005264917.3:c.480C>A, XM_005264917.2:c.480C>A, XM_005264917.1:c.480C>A, XM_006713008.4:c.480C>A, XM_006713008.3:c.480C>A, XM_006713008.2:c.480C>A, XM_006713008.1:c.480C>A, XM_006713009.4:c.480C>A, XM_006713009.3:c.480C>A, XM_006713009.2:c.480C>A, XM_006713009.1:c.480C>A, XM_006713010.4:c.480C>A, XM_006713010.3:c.480C>A, XM_006713010.2:c.480C>A, XM_006713010.1:c.480C>A, XM_017005825.3:c.480C>A, XM_017005825.2:c.480C>A, XM_017005825.1:c.480C>A, XM_017005826.3:c.480C>A, XM_017005826.2:c.480C>A, XM_017005826.1:c.480C>A, XM_047447595.1:c.480C>A, XM_047447596.1:c.480C>A, XM_047447597.1:c.480C>A, XM_047447598.1:c.480C>A, XM_047447599.1:c.480C>A, XM_047447600.1:c.480C>A, XM_047447602.1:c.480C>A, XM_047447601.1:c.480C>A, XM_047447603.1:c.480C>A, XM_047447605.1:c.126C>A, XM_047447604.1:c.480C>A, NP_004938.1:p.Asp160Glu, XP_005264973.1:p.Asp160Glu, XP_005264975.1:p.Asp160Glu, XP_005264971.1:p.Asp160Glu, XP_005264972.1:p.Asp160Glu, XP_005264974.1:p.Asp160Glu, XP_006713071.1:p.Asp160Glu, XP_006713072.1:p.Asp160Glu, XP_006713073.1:p.Asp160Glu, XP_016861314.1:p.Asp160Glu, XP_016861315.1:p.Asp160Glu, XP_047303551.1:p.Asp160Glu, XP_047303552.1:p.Asp160Glu, XP_047303553.1:p.Asp160Glu, XP_047303554.1:p.Asp160Glu, XP_047303555.1:p.Asp160Glu, XP_047303556.1:p.Asp160Glu, XP_047303558.1:p.Asp160Glu, XP_047303557.1:p.Asp160Glu, XP_047303559.1:p.Asp160Glu, XP_047303561.1:p.Asp42Glu, XP_047303560.1:p.Asp160Glu

          5.

          rs1488735423 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            3:51310266 (GRCh38)
            3:51347697 (GRCh37)
            Canonical SPDI:
            NC_000003.12:51310265:A:C
            Gene:
            DOCK3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000003.12:g.51310266A>C, NC_000003.11:g.51347697A>C, NG_028012.2:g.640026A>C, NM_004947.5:c.2957A>C, NM_004947.4:c.2957A>C, XM_005264916.5:c.2957A>C, XM_005264916.4:c.2957A>C, XM_005264916.3:c.2957A>C, XM_005264916.2:c.2957A>C, XM_005264916.1:c.2957A>C, XM_005264918.5:c.2810A>C, XM_005264918.4:c.2810A>C, XM_005264918.3:c.2810A>C, XM_005264918.2:c.2810A>C, XM_005264918.1:c.2810A>C, XM_011533441.4:c.1922A>C, XM_011533441.3:c.1922A>C, XM_011533441.2:c.1922A>C, XM_011533441.1:c.1922A>C, XM_005264914.4:c.2957A>C, XM_005264914.3:c.2957A>C, XM_005264914.2:c.2957A>C, XM_005264914.1:c.2957A>C, XM_005264915.4:c.2957A>C, XM_005264915.3:c.2957A>C, XM_005264915.2:c.2957A>C, XM_005264915.1:c.2957A>C, XM_005264917.4:c.2915A>C, XM_005264917.3:c.2915A>C, XM_005264917.2:c.2915A>C, XM_005264917.1:c.2915A>C, XM_006713008.4:c.2957A>C, XM_006713008.3:c.2957A>C, XM_006713008.2:c.2957A>C, XM_006713008.1:c.2957A>C, XM_006713009.4:c.2957A>C, XM_006713009.3:c.2957A>C, XM_006713009.2:c.2957A>C, XM_006713009.1:c.2957A>C, XM_006713010.4:c.2957A>C, XM_006713010.3:c.2957A>C, XM_006713010.2:c.2957A>C, XM_006713010.1:c.2957A>C, XM_017005825.3:c.2957A>C, XM_017005825.2:c.2957A>C, XM_017005825.1:c.2957A>C, XM_017005826.3:c.2957A>C, XM_017005826.2:c.2957A>C, XM_017005826.1:c.2957A>C, XM_017005827.3:c.2144A>C, XM_017005827.2:c.2144A>C, XM_017005827.1:c.2144A>C, XM_011533443.3:c.269A>C, XM_011533443.2:c.269A>C, XM_011533443.1:c.269A>C, XM_011533445.3:c.95A>C, XM_011533445.2:c.95A>C, XM_011533445.1:c.95A>C, XM_011533444.3:c.269A>C, XM_011533444.2:c.269A>C, XM_011533444.1:c.269A>C, XM_047447595.1:c.2915A>C, XM_047447596.1:c.2915A>C, XM_047447597.1:c.2957A>C, XM_047447598.1:c.2957A>C, XM_047447599.1:c.2810A>C, XM_047447600.1:c.2957A>C, XM_047447602.1:c.2957A>C, XM_047447601.1:c.2915A>C, XM_047447603.1:c.2957A>C, XM_047447605.1:c.2603A>C, XM_047447604.1:c.2957A>C, XM_047447606.1:c.1796A>C, NP_004938.1:p.Asn986Thr, XP_005264973.1:p.Asn986Thr, XP_005264975.1:p.Asn937Thr, XP_011531743.1:p.Asn641Thr, XP_005264971.1:p.Asn986Thr, XP_005264972.1:p.Asn986Thr, XP_005264974.1:p.Asn972Thr, XP_006713071.1:p.Asn986Thr, XP_006713072.1:p.Asn986Thr, XP_006713073.1:p.Asn986Thr, XP_016861314.1:p.Asn986Thr, XP_016861315.1:p.Asn986Thr, XP_016861316.1:p.Asn715Thr, XP_011531745.1:p.Asn90Thr, XP_011531747.1:p.Asn32Thr, XP_011531746.1:p.Asn90Thr, XP_047303551.1:p.Asn972Thr, XP_047303552.1:p.Asn972Thr, XP_047303553.1:p.Asn986Thr, XP_047303554.1:p.Asn986Thr, XP_047303555.1:p.Asn937Thr, XP_047303556.1:p.Asn986Thr, XP_047303558.1:p.Asn986Thr, XP_047303557.1:p.Asn972Thr, XP_047303559.1:p.Asn986Thr, XP_047303561.1:p.Asn868Thr, XP_047303560.1:p.Asn986Thr, XP_047303562.1:p.Asn599Thr

            6.

            rs1487948846 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              3:51356986 (GRCh38)
              3:51394417 (GRCh37)
              Canonical SPDI:
              NC_000003.12:51356985:G:T
              Gene:
              DOCK3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000084/1 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000003.12:g.51356986G>T, NC_000003.11:g.51394417G>T, NG_028012.2:g.686746G>T, NM_004947.5:c.4528G>T, NM_004947.4:c.4528G>T, XM_005264916.5:c.4501G>T, XM_005264916.4:c.4501G>T, XM_005264916.3:c.4501G>T, XM_005264916.2:c.4501G>T, XM_005264916.1:c.4501G>T, XM_005264918.5:c.4381G>T, XM_005264918.4:c.4381G>T, XM_005264918.3:c.4381G>T, XM_005264918.2:c.4381G>T, XM_005264918.1:c.4381G>T, XM_011533441.4:c.3493G>T, XM_011533441.3:c.3493G>T, XM_011533441.2:c.3493G>T, XM_011533441.1:c.3493G>T, XM_005264914.4:c.4528G>T, XM_005264914.3:c.4528G>T, XM_005264914.2:c.4528G>T, XM_005264914.1:c.4528G>T, XM_005264915.4:c.4528G>T, XM_005264915.3:c.4528G>T, XM_005264915.2:c.4528G>T, XM_005264915.1:c.4528G>T, XM_005264917.4:c.4486G>T, XM_005264917.3:c.4486G>T, XM_005264917.2:c.4486G>T, XM_005264917.1:c.4486G>T, XM_006713008.4:c.4528G>T, XM_006713008.3:c.4528G>T, XM_006713008.2:c.4528G>T, XM_006713008.1:c.4528G>T, XM_006713009.4:c.4441G>T, XM_006713009.3:c.4441G>T, XM_006713009.2:c.4441G>T, XM_006713009.1:c.4441G>T, XM_006713010.4:c.4528G>T, XM_006713010.3:c.4528G>T, XM_006713010.2:c.4528G>T, XM_006713010.1:c.4528G>T, XM_017005825.3:c.4528G>T, XM_017005825.2:c.4528G>T, XM_017005825.1:c.4528G>T, XM_017005826.3:c.4528G>T, XM_017005826.2:c.4528G>T, XM_017005826.1:c.4528G>T, XM_017005827.3:c.3715G>T, XM_017005827.2:c.3715G>T, XM_017005827.1:c.3715G>T, XM_011533443.3:c.1840G>T, XM_011533443.2:c.1840G>T, XM_011533443.1:c.1840G>T, XM_011533445.3:c.1666G>T, XM_011533445.2:c.1666G>T, XM_011533445.1:c.1666G>T, XM_011533444.3:c.1840G>T, XM_011533444.2:c.1840G>T, XM_011533444.1:c.1840G>T, XM_047447595.1:c.4459G>T, XM_047447596.1:c.4459G>T, XM_047447597.1:c.4501G>T, XM_047447598.1:c.4501G>T, XM_047447599.1:c.4354G>T, XM_047447600.1:c.4528G>T, XM_047447602.1:c.4441G>T, XM_047447601.1:c.4459G>T, XM_047447603.1:c.4441G>T, XM_047447605.1:c.4174G>T, XM_047447604.1:c.4501G>T, XM_047447606.1:c.3367G>T, NP_004938.1:p.Ala1510Ser, XP_005264973.1:p.Ala1501Ser, XP_005264975.1:p.Ala1461Ser, XP_011531743.1:p.Ala1165Ser, XP_005264971.1:p.Ala1510Ser, XP_005264972.1:p.Ala1510Ser, XP_005264974.1:p.Ala1496Ser, XP_006713071.1:p.Ala1510Ser, XP_006713072.1:p.Ala1481Ser, XP_006713073.1:p.Ala1510Ser, XP_016861314.1:p.Ala1510Ser, XP_016861315.1:p.Ala1510Ser, XP_016861316.1:p.Ala1239Ser, XP_011531745.1:p.Ala614Ser, XP_011531747.1:p.Ala556Ser, XP_011531746.1:p.Ala614Ser, XP_047303551.1:p.Ala1487Ser, XP_047303552.1:p.Ala1487Ser, XP_047303553.1:p.Ala1501Ser, XP_047303554.1:p.Ala1501Ser, XP_047303555.1:p.Ala1452Ser, XP_047303556.1:p.Ala1510Ser, XP_047303558.1:p.Ala1481Ser, XP_047303557.1:p.Ala1487Ser, XP_047303559.1:p.Ala1481Ser, XP_047303561.1:p.Ala1392Ser, XP_047303560.1:p.Ala1501Ser, XP_047303562.1:p.Ala1123Ser

              7.

              rs1487176561 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:51064568 (GRCh38)
                3:51101999 (GRCh37)
                Canonical SPDI:
                NC_000003.12:51064567:A:G
                Gene:
                DOCK3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.51064568A>G, NC_000003.11:g.51101999A>G, NG_028012.2:g.394328A>G, NM_004947.5:c.436A>G, NM_004947.4:c.436A>G, XM_005264916.5:c.436A>G, XM_005264916.4:c.436A>G, XM_005264916.3:c.436A>G, XM_005264916.2:c.436A>G, XM_005264916.1:c.436A>G, XM_005264918.5:c.436A>G, XM_005264918.4:c.436A>G, XM_005264918.3:c.436A>G, XM_005264918.2:c.436A>G, XM_005264918.1:c.436A>G, XM_005264914.4:c.436A>G, XM_005264914.3:c.436A>G, XM_005264914.2:c.436A>G, XM_005264914.1:c.436A>G, XM_005264915.4:c.436A>G, XM_005264915.3:c.436A>G, XM_005264915.2:c.436A>G, XM_005264915.1:c.436A>G, XM_005264917.4:c.436A>G, XM_005264917.3:c.436A>G, XM_005264917.2:c.436A>G, XM_005264917.1:c.436A>G, XM_006713008.4:c.436A>G, XM_006713008.3:c.436A>G, XM_006713008.2:c.436A>G, XM_006713008.1:c.436A>G, XM_006713009.4:c.436A>G, XM_006713009.3:c.436A>G, XM_006713009.2:c.436A>G, XM_006713009.1:c.436A>G, XM_006713010.4:c.436A>G, XM_006713010.3:c.436A>G, XM_006713010.2:c.436A>G, XM_006713010.1:c.436A>G, XM_017005825.3:c.436A>G, XM_017005825.2:c.436A>G, XM_017005825.1:c.436A>G, XM_017005826.3:c.436A>G, XM_017005826.2:c.436A>G, XM_017005826.1:c.436A>G, XM_047447595.1:c.436A>G, XM_047447596.1:c.436A>G, XM_047447597.1:c.436A>G, XM_047447598.1:c.436A>G, XM_047447599.1:c.436A>G, XM_047447600.1:c.436A>G, XM_047447602.1:c.436A>G, XM_047447601.1:c.436A>G, XM_047447603.1:c.436A>G, XM_047447605.1:c.82A>G, XM_047447604.1:c.436A>G, NP_004938.1:p.Ile146Val, XP_005264973.1:p.Ile146Val, XP_005264975.1:p.Ile146Val, XP_005264971.1:p.Ile146Val, XP_005264972.1:p.Ile146Val, XP_005264974.1:p.Ile146Val, XP_006713071.1:p.Ile146Val, XP_006713072.1:p.Ile146Val, XP_006713073.1:p.Ile146Val, XP_016861314.1:p.Ile146Val, XP_016861315.1:p.Ile146Val, XP_047303551.1:p.Ile146Val, XP_047303552.1:p.Ile146Val, XP_047303553.1:p.Ile146Val, XP_047303554.1:p.Ile146Val, XP_047303555.1:p.Ile146Val, XP_047303556.1:p.Ile146Val, XP_047303558.1:p.Ile146Val, XP_047303557.1:p.Ile146Val, XP_047303559.1:p.Ile146Val, XP_047303561.1:p.Ile28Val, XP_047303560.1:p.Ile146Val

                8.

                rs1486008217 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:51354911 (GRCh38)
                  3:51392342 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:51354910:C:T
                  Gene:
                  DOCK3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.51354911C>T, NC_000003.11:g.51392342C>T, NG_028012.2:g.684671C>T, NM_004947.5:c.4137C>T, NM_004947.4:c.4137C>T, XM_005264916.5:c.4110C>T, XM_005264916.4:c.4110C>T, XM_005264916.3:c.4110C>T, XM_005264916.2:c.4110C>T, XM_005264916.1:c.4110C>T, XM_005264918.5:c.3990C>T, XM_005264918.4:c.3990C>T, XM_005264918.3:c.3990C>T, XM_005264918.2:c.3990C>T, XM_005264918.1:c.3990C>T, XM_011533441.4:c.3102C>T, XM_011533441.3:c.3102C>T, XM_011533441.2:c.3102C>T, XM_011533441.1:c.3102C>T, XM_005264914.4:c.4137C>T, XM_005264914.3:c.4137C>T, XM_005264914.2:c.4137C>T, XM_005264914.1:c.4137C>T, XM_005264915.4:c.4137C>T, XM_005264915.3:c.4137C>T, XM_005264915.2:c.4137C>T, XM_005264915.1:c.4137C>T, XM_005264917.4:c.4095C>T, XM_005264917.3:c.4095C>T, XM_005264917.2:c.4095C>T, XM_005264917.1:c.4095C>T, XM_006713008.4:c.4137C>T, XM_006713008.3:c.4137C>T, XM_006713008.2:c.4137C>T, XM_006713008.1:c.4137C>T, XM_006713009.4:c.4050C>T, XM_006713009.3:c.4050C>T, XM_006713009.2:c.4050C>T, XM_006713009.1:c.4050C>T, XM_006713010.4:c.4137C>T, XM_006713010.3:c.4137C>T, XM_006713010.2:c.4137C>T, XM_006713010.1:c.4137C>T, XM_017005825.3:c.4137C>T, XM_017005825.2:c.4137C>T, XM_017005825.1:c.4137C>T, XM_017005826.3:c.4137C>T, XM_017005826.2:c.4137C>T, XM_017005826.1:c.4137C>T, XM_017005827.3:c.3324C>T, XM_017005827.2:c.3324C>T, XM_017005827.1:c.3324C>T, XM_011533443.3:c.1449C>T, XM_011533443.2:c.1449C>T, XM_011533443.1:c.1449C>T, XM_011533445.3:c.1275C>T, XM_011533445.2:c.1275C>T, XM_011533445.1:c.1275C>T, XM_011533444.3:c.1449C>T, XM_011533444.2:c.1449C>T, XM_011533444.1:c.1449C>T, XM_047447595.1:c.4068C>T, XM_047447596.1:c.4068C>T, XM_047447597.1:c.4110C>T, XM_047447598.1:c.4110C>T, XM_047447599.1:c.3963C>T, XM_047447600.1:c.4137C>T, XM_047447602.1:c.4050C>T, XM_047447601.1:c.4068C>T, XM_047447603.1:c.4050C>T, XM_047447605.1:c.3783C>T, XM_047447604.1:c.4110C>T, XM_047447606.1:c.2976C>T

                  9.

                  rs1485707375 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    3:51357975 (GRCh38)
                    3:51395406 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:51357974:A:C
                    Gene:
                    DOCK3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.51357975A>C, NC_000003.11:g.51395406A>C, NG_028012.2:g.687735A>C, NM_004947.5:c.4782A>C, NM_004947.4:c.4782A>C, XM_005264916.5:c.4755A>C, XM_005264916.4:c.4755A>C, XM_005264916.3:c.4755A>C, XM_005264916.2:c.4755A>C, XM_005264916.1:c.4755A>C, XM_005264918.5:c.4635A>C, XM_005264918.4:c.4635A>C, XM_005264918.3:c.4635A>C, XM_005264918.2:c.4635A>C, XM_005264918.1:c.4635A>C, XM_011533441.4:c.3747A>C, XM_011533441.3:c.3747A>C, XM_011533441.2:c.3747A>C, XM_011533441.1:c.3747A>C, XM_005264914.4:c.4782A>C, XM_005264914.3:c.4782A>C, XM_005264914.2:c.4782A>C, XM_005264914.1:c.4782A>C, XM_005264915.4:c.4782A>C, XM_005264915.3:c.4782A>C, XM_005264915.2:c.4782A>C, XM_005264915.1:c.4782A>C, XM_005264917.4:c.4740A>C, XM_005264917.3:c.4740A>C, XM_005264917.2:c.4740A>C, XM_005264917.1:c.4740A>C, XM_006713008.4:c.4782A>C, XM_006713008.3:c.4782A>C, XM_006713008.2:c.4782A>C, XM_006713008.1:c.4782A>C, XM_006713009.4:c.4695A>C, XM_006713009.3:c.4695A>C, XM_006713009.2:c.4695A>C, XM_006713009.1:c.4695A>C, XM_006713010.4:c.4782A>C, XM_006713010.3:c.4782A>C, XM_006713010.2:c.4782A>C, XM_006713010.1:c.4782A>C, XM_017005825.3:c.4782A>C, XM_017005825.2:c.4782A>C, XM_017005825.1:c.4782A>C, XM_017005826.3:c.4782A>C, XM_017005826.2:c.4782A>C, XM_017005826.1:c.4782A>C, XM_017005827.3:c.3969A>C, XM_017005827.2:c.3969A>C, XM_017005827.1:c.3969A>C, XM_011533443.3:c.2094A>C, XM_011533443.2:c.2094A>C, XM_011533443.1:c.2094A>C, XM_011533445.3:c.1920A>C, XM_011533445.2:c.1920A>C, XM_011533445.1:c.1920A>C, XM_011533444.3:c.2094A>C, XM_011533444.2:c.2094A>C, XM_011533444.1:c.2094A>C, XM_047447595.1:c.4713A>C, XM_047447596.1:c.4713A>C, XM_047447597.1:c.4755A>C, XM_047447598.1:c.4755A>C, XM_047447599.1:c.4608A>C, XM_047447600.1:c.4782A>C, XM_047447602.1:c.4695A>C, XM_047447601.1:c.4713A>C, XM_047447603.1:c.4695A>C, XM_047447605.1:c.4428A>C, XM_047447604.1:c.4755A>C, XM_047447606.1:c.3621A>C

                    10.

                    rs1484966091 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      3:51355016 (GRCh38)
                      3:51392447 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:51355015:T:G
                      Gene:
                      DOCK3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.51355016T>G, NC_000003.11:g.51392447T>G, NG_028012.2:g.684776T>G, NM_004947.5:c.4242T>G, NM_004947.4:c.4242T>G, XM_005264916.5:c.4215T>G, XM_005264916.4:c.4215T>G, XM_005264916.3:c.4215T>G, XM_005264916.2:c.4215T>G, XM_005264916.1:c.4215T>G, XM_005264918.5:c.4095T>G, XM_005264918.4:c.4095T>G, XM_005264918.3:c.4095T>G, XM_005264918.2:c.4095T>G, XM_005264918.1:c.4095T>G, XM_011533441.4:c.3207T>G, XM_011533441.3:c.3207T>G, XM_011533441.2:c.3207T>G, XM_011533441.1:c.3207T>G, XM_005264914.4:c.4242T>G, XM_005264914.3:c.4242T>G, XM_005264914.2:c.4242T>G, XM_005264914.1:c.4242T>G, XM_005264915.4:c.4242T>G, XM_005264915.3:c.4242T>G, XM_005264915.2:c.4242T>G, XM_005264915.1:c.4242T>G, XM_005264917.4:c.4200T>G, XM_005264917.3:c.4200T>G, XM_005264917.2:c.4200T>G, XM_005264917.1:c.4200T>G, XM_006713008.4:c.4242T>G, XM_006713008.3:c.4242T>G, XM_006713008.2:c.4242T>G, XM_006713008.1:c.4242T>G, XM_006713009.4:c.4155T>G, XM_006713009.3:c.4155T>G, XM_006713009.2:c.4155T>G, XM_006713009.1:c.4155T>G, XM_006713010.4:c.4242T>G, XM_006713010.3:c.4242T>G, XM_006713010.2:c.4242T>G, XM_006713010.1:c.4242T>G, XM_017005825.3:c.4242T>G, XM_017005825.2:c.4242T>G, XM_017005825.1:c.4242T>G, XM_017005826.3:c.4242T>G, XM_017005826.2:c.4242T>G, XM_017005826.1:c.4242T>G, XM_017005827.3:c.3429T>G, XM_017005827.2:c.3429T>G, XM_017005827.1:c.3429T>G, XM_011533443.3:c.1554T>G, XM_011533443.2:c.1554T>G, XM_011533443.1:c.1554T>G, XM_011533445.3:c.1380T>G, XM_011533445.2:c.1380T>G, XM_011533445.1:c.1380T>G, XM_011533444.3:c.1554T>G, XM_011533444.2:c.1554T>G, XM_011533444.1:c.1554T>G, XM_047447595.1:c.4173T>G, XM_047447596.1:c.4173T>G, XM_047447597.1:c.4215T>G, XM_047447598.1:c.4215T>G, XM_047447599.1:c.4068T>G, XM_047447600.1:c.4242T>G, XM_047447602.1:c.4155T>G, XM_047447601.1:c.4173T>G, XM_047447603.1:c.4155T>G, XM_047447605.1:c.3888T>G, XM_047447604.1:c.4215T>G, XM_047447606.1:c.3081T>G, NP_004938.1:p.Asp1414Glu, XP_005264973.1:p.Asp1405Glu, XP_005264975.1:p.Asp1365Glu, XP_011531743.1:p.Asp1069Glu, XP_005264971.1:p.Asp1414Glu, XP_005264972.1:p.Asp1414Glu, XP_005264974.1:p.Asp1400Glu, XP_006713071.1:p.Asp1414Glu, XP_006713072.1:p.Asp1385Glu, XP_006713073.1:p.Asp1414Glu, XP_016861314.1:p.Asp1414Glu, XP_016861315.1:p.Asp1414Glu, XP_016861316.1:p.Asp1143Glu, XP_011531745.1:p.Asp518Glu, XP_011531747.1:p.Asp460Glu, XP_011531746.1:p.Asp518Glu, XP_047303551.1:p.Asp1391Glu, XP_047303552.1:p.Asp1391Glu, XP_047303553.1:p.Asp1405Glu, XP_047303554.1:p.Asp1405Glu, XP_047303555.1:p.Asp1356Glu, XP_047303556.1:p.Asp1414Glu, XP_047303558.1:p.Asp1385Glu, XP_047303557.1:p.Asp1391Glu, XP_047303559.1:p.Asp1385Glu, XP_047303561.1:p.Asp1296Glu, XP_047303560.1:p.Asp1405Glu, XP_047303562.1:p.Asp1027Glu

                      11.

                      rs1484568955 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        3:51227440 (GRCh38)
                        3:51264871 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:51227439:G:T
                        Gene:
                        DOCK3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.51227440G>T, NC_000003.11:g.51264871G>T, NG_028012.2:g.557200G>T, NM_004947.5:c.1535G>T, NM_004947.4:c.1535G>T, XM_005264916.5:c.1535G>T, XM_005264916.4:c.1535G>T, XM_005264916.3:c.1535G>T, XM_005264916.2:c.1535G>T, XM_005264916.1:c.1535G>T, XM_005264918.5:c.1535G>T, XM_005264918.4:c.1535G>T, XM_005264918.3:c.1535G>T, XM_005264918.2:c.1535G>T, XM_005264918.1:c.1535G>T, XM_011533441.4:c.500G>T, XM_011533441.3:c.500G>T, XM_011533441.2:c.500G>T, XM_011533441.1:c.500G>T, XM_005264914.4:c.1535G>T, XM_005264914.3:c.1535G>T, XM_005264914.2:c.1535G>T, XM_005264914.1:c.1535G>T, XM_005264915.4:c.1535G>T, XM_005264915.3:c.1535G>T, XM_005264915.2:c.1535G>T, XM_005264915.1:c.1535G>T, XM_005264917.4:c.1535G>T, XM_005264917.3:c.1535G>T, XM_005264917.2:c.1535G>T, XM_005264917.1:c.1535G>T, XM_006713008.4:c.1535G>T, XM_006713008.3:c.1535G>T, XM_006713008.2:c.1535G>T, XM_006713008.1:c.1535G>T, XM_006713009.4:c.1535G>T, XM_006713009.3:c.1535G>T, XM_006713009.2:c.1535G>T, XM_006713009.1:c.1535G>T, XM_006713010.4:c.1535G>T, XM_006713010.3:c.1535G>T, XM_006713010.2:c.1535G>T, XM_006713010.1:c.1535G>T, XM_017005825.3:c.1535G>T, XM_017005825.2:c.1535G>T, XM_017005825.1:c.1535G>T, XM_017005826.3:c.1535G>T, XM_017005826.2:c.1535G>T, XM_017005826.1:c.1535G>T, XM_017005827.3:c.722G>T, XM_017005827.2:c.722G>T, XM_017005827.1:c.722G>T, XM_047447595.1:c.1535G>T, XM_047447596.1:c.1535G>T, XM_047447597.1:c.1535G>T, XM_047447598.1:c.1535G>T, XM_047447599.1:c.1535G>T, XM_047447600.1:c.1535G>T, XM_047447602.1:c.1535G>T, XM_047447601.1:c.1535G>T, XM_047447603.1:c.1535G>T, XM_047447605.1:c.1181G>T, XM_047447604.1:c.1535G>T, XM_047447606.1:c.374G>T, NP_004938.1:p.Cys512Phe, XP_005264973.1:p.Cys512Phe, XP_005264975.1:p.Cys512Phe, XP_011531743.1:p.Cys167Phe, XP_005264971.1:p.Cys512Phe, XP_005264972.1:p.Cys512Phe, XP_005264974.1:p.Cys512Phe, XP_006713071.1:p.Cys512Phe, XP_006713072.1:p.Cys512Phe, XP_006713073.1:p.Cys512Phe, XP_016861314.1:p.Cys512Phe, XP_016861315.1:p.Cys512Phe, XP_016861316.1:p.Cys241Phe, XP_047303551.1:p.Cys512Phe, XP_047303552.1:p.Cys512Phe, XP_047303553.1:p.Cys512Phe, XP_047303554.1:p.Cys512Phe, XP_047303555.1:p.Cys512Phe, XP_047303556.1:p.Cys512Phe, XP_047303558.1:p.Cys512Phe, XP_047303557.1:p.Cys512Phe, XP_047303559.1:p.Cys512Phe, XP_047303561.1:p.Cys394Phe, XP_047303560.1:p.Cys512Phe, XP_047303562.1:p.Cys125Phe

                        12.

                        rs1484562228 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          3:51379465 (GRCh38)
                          3:51416897 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:51379465:A:AA
                          Gene:
                          DOCK3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,frameshift_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AA=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.51379466dup, NC_000003.11:g.51416897dup, NG_028012.2:g.709226dup, NW_003315910.1:g.789dup, XM_005264916.5:c.5491dup, XM_005264916.4:c.5491dup, XM_005264916.3:c.5491dup, XM_005264916.2:c.5491dup, XM_005264916.1:c.5491dup, XM_005264918.5:c.5371dup, XM_005264918.4:c.5371dup, XM_005264918.3:c.5371dup, XM_005264918.2:c.5371dup, XM_005264918.1:c.5371dup, XM_011533441.4:c.4483dup, XM_011533441.3:c.4483dup, XM_011533441.2:c.4483dup, XM_011533441.1:c.4483dup, XM_005264914.4:c.5518dup, XM_005264914.3:c.5518dup, XM_005264914.2:c.5518dup, XM_005264914.1:c.5518dup, XM_005264915.4:c.5500dup, XM_005264915.3:c.5500dup, XM_005264915.2:c.5500dup, XM_005264915.1:c.5500dup, XM_005264917.4:c.5476dup, XM_005264917.3:c.5476dup, XM_005264917.2:c.5476dup, XM_005264917.1:c.5476dup, XM_006713008.4:c.5455dup, XM_006713008.3:c.5455dup, XM_006713008.2:c.5455dup, XM_006713008.1:c.5455dup, XM_006713009.4:c.5431dup, XM_006713009.3:c.5431dup, XM_006713009.2:c.5431dup, XM_006713009.1:c.5431dup, XM_017005827.3:c.4705dup, XM_017005827.2:c.4705dup, XM_017005827.1:c.4705dup, XM_011533443.3:c.2830dup, XM_011533443.2:c.2830dup, XM_011533443.1:c.2830dup, XM_011533445.3:c.2656dup, XM_011533445.2:c.2656dup, XM_011533445.1:c.2656dup, XM_011533444.3:c.2830dup, XM_011533444.2:c.2830dup, XM_011533444.1:c.2830dup, XM_047447595.1:c.5449dup, XM_047447596.1:c.5431dup, XM_047447599.1:c.5344dup, XM_047447605.1:c.5164dup, XM_047447606.1:c.4357dup, XP_005264973.1:p.Ser1831fs, XP_005264975.1:p.Ser1791fs, XP_011531743.1:p.Ser1495fs, XP_005264971.1:p.Ser1840fs, XP_005264972.1:p.Ser1834fs, XP_005264974.1:p.Ser1826fs, XP_006713071.1:p.Ser1819fs, XP_006713072.1:p.Ser1811fs, XP_016861316.1:p.Ser1569fs, XP_011531745.1:p.Ser944fs, XP_011531747.1:p.Ser886fs, XP_011531746.1:p.Ser944fs, XP_047303551.1:p.Ser1817fs, XP_047303552.1:p.Ser1811fs, XP_047303555.1:p.Ser1782fs, XP_047303561.1:p.Ser1722fs, XP_047303562.1:p.Ser1453fs

                          13.

                          rs1483725370 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:51362610 (GRCh38)
                            3:51400041 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:51362609:C:T
                            Gene:
                            DOCK3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000003.12:g.51362610C>T, NC_000003.11:g.51400041C>T, NG_028012.2:g.692370C>T, NM_004947.5:c.5229C>T, NM_004947.4:c.5229C>T, XM_005264916.5:c.5202C>T, XM_005264916.4:c.5202C>T, XM_005264916.3:c.5202C>T, XM_005264916.2:c.5202C>T, XM_005264916.1:c.5202C>T, XM_005264918.5:c.5082C>T, XM_005264918.4:c.5082C>T, XM_005264918.3:c.5082C>T, XM_005264918.2:c.5082C>T, XM_005264918.1:c.5082C>T, XM_011533441.4:c.4194C>T, XM_011533441.3:c.4194C>T, XM_011533441.2:c.4194C>T, XM_011533441.1:c.4194C>T, XM_005264914.4:c.5229C>T, XM_005264914.3:c.5229C>T, XM_005264914.2:c.5229C>T, XM_005264914.1:c.5229C>T, XM_005264915.4:c.5229C>T, XM_005264915.3:c.5229C>T, XM_005264915.2:c.5229C>T, XM_005264915.1:c.5229C>T, XM_005264917.4:c.5187C>T, XM_005264917.3:c.5187C>T, XM_005264917.2:c.5187C>T, XM_005264917.1:c.5187C>T, XM_006713008.4:c.5166C>T, XM_006713008.3:c.5166C>T, XM_006713008.2:c.5166C>T, XM_006713008.1:c.5166C>T, XM_006713009.4:c.5142C>T, XM_006713009.3:c.5142C>T, XM_006713009.2:c.5142C>T, XM_006713009.1:c.5142C>T, XM_006713010.4:c.5229C>T, XM_006713010.3:c.5229C>T, XM_006713010.2:c.5229C>T, XM_006713010.1:c.5229C>T, XM_017005825.3:c.5229C>T, XM_017005825.2:c.5229C>T, XM_017005825.1:c.5229C>T, XM_017005826.3:c.5229C>T, XM_017005826.2:c.5229C>T, XM_017005826.1:c.5229C>T, XM_017005827.3:c.4416C>T, XM_017005827.2:c.4416C>T, XM_017005827.1:c.4416C>T, XM_011533443.3:c.2541C>T, XM_011533443.2:c.2541C>T, XM_011533443.1:c.2541C>T, XM_011533445.3:c.2367C>T, XM_011533445.2:c.2367C>T, XM_011533445.1:c.2367C>T, XM_011533444.3:c.2541C>T, XM_011533444.2:c.2541C>T, XM_011533444.1:c.2541C>T, XM_047447595.1:c.5160C>T, XM_047447596.1:c.5160C>T, XM_047447597.1:c.5202C>T, XM_047447598.1:c.5202C>T, XM_047447599.1:c.5055C>T, XM_047447600.1:c.5166C>T, XM_047447602.1:c.5142C>T, XM_047447601.1:c.5160C>T, XM_047447603.1:c.5142C>T, XM_047447605.1:c.4875C>T, XM_047447604.1:c.5202C>T, XM_047447606.1:c.4068C>T

                            14.

                            rs1482338367 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              3:51381424 (GRCh38)
                              3:51418855 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:51381423:G:C
                              Gene:
                              DOCK3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000003.12:g.51381424G>C, NC_000003.11:g.51418855G>C, NG_012652.3:g.1153G>C, NG_028012.2:g.711184G>C, NM_004947.5:c.5958G>C, NM_004947.4:c.5958G>C, NW_003315910.1:g.2747G>C, XM_005264916.5:c.6054G>C, XM_005264916.4:c.6054G>C, XM_005264916.3:c.6054G>C, XM_005264916.2:c.6054G>C, XM_005264916.1:c.6054G>C, XM_005264918.5:c.5934G>C, XM_005264918.4:c.5934G>C, XM_005264918.3:c.5934G>C, XM_005264918.2:c.5934G>C, XM_005264918.1:c.5934G>C, XM_011533441.4:c.5046G>C, XM_011533441.3:c.5046G>C, XM_011533441.2:c.5046G>C, XM_011533441.1:c.5046G>C, XM_005264914.4:c.6081G>C, XM_005264914.3:c.6081G>C, XM_005264914.2:c.6081G>C, XM_005264914.1:c.6081G>C, XM_005264915.4:c.6063G>C, XM_005264915.3:c.6063G>C, XM_005264915.2:c.6063G>C, XM_005264915.1:c.6063G>C, XM_005264917.4:c.6039G>C, XM_005264917.3:c.6039G>C, XM_005264917.2:c.6039G>C, XM_005264917.1:c.6039G>C, XM_006713008.4:c.6018G>C, XM_006713008.3:c.6018G>C, XM_006713008.2:c.6018G>C, XM_006713008.1:c.6018G>C, XM_006713009.4:c.5994G>C, XM_006713009.3:c.5994G>C, XM_006713009.2:c.5994G>C, XM_006713009.1:c.5994G>C, XM_006713010.4:c.*265G>C, XM_006713010.3:c.*265G>C, XM_017005825.3:c.5940G>C, XM_017005825.2:c.5940G>C, XM_017005825.1:c.5940G>C, XM_017005827.3:c.5268G>C, XM_017005827.2:c.5268G>C, XM_017005827.1:c.5268G>C, XM_011533443.3:c.3393G>C, XM_011533443.2:c.3393G>C, XM_011533443.1:c.3393G>C, XM_011533445.3:c.3219G>C, XM_011533445.2:c.3219G>C, XM_011533445.1:c.3219G>C, XM_011533444.3:c.3393G>C, XM_011533444.2:c.3393G>C, XM_011533444.1:c.3393G>C, XM_047447595.1:c.6012G>C, XM_047447596.1:c.5994G>C, XM_047447597.1:c.5931G>C, XM_047447598.1:c.5913G>C, XM_047447599.1:c.5907G>C, XM_047447600.1:c.5895G>C, XM_047447602.1:c.5871G>C, XM_047447601.1:c.5871G>C, XM_047447603.1:c.5853G>C, XM_047447605.1:c.5727G>C, XM_047447604.1:c.*265G>C, XM_047447606.1:c.4920G>C, NP_004938.1:p.Glu1986Asp, XP_005264973.1:p.Glu2018Asp, XP_005264975.1:p.Glu1978Asp, XP_011531743.1:p.Glu1682Asp, XP_005264971.1:p.Glu2027Asp, XP_005264972.1:p.Glu2021Asp, XP_005264974.1:p.Glu2013Asp, XP_006713071.1:p.Glu2006Asp, XP_006713072.1:p.Glu1998Asp, XP_016861314.1:p.Glu1980Asp, XP_016861316.1:p.Glu1756Asp, XP_011531745.1:p.Glu1131Asp, XP_011531747.1:p.Glu1073Asp, XP_011531746.1:p.Glu1131Asp, XP_047303551.1:p.Glu2004Asp, XP_047303552.1:p.Glu1998Asp, XP_047303553.1:p.Glu1977Asp, XP_047303554.1:p.Glu1971Asp, XP_047303555.1:p.Glu1969Asp, XP_047303556.1:p.Glu1965Asp, XP_047303558.1:p.Glu1957Asp, XP_047303557.1:p.Glu1957Asp, XP_047303559.1:p.Glu1951Asp, XP_047303561.1:p.Glu1909Asp, XP_047303562.1:p.Glu1640Asp

                              15.

                              rs1480605698 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:51333227 (GRCh38)
                                3:51370658 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:51333226:C:T
                                Gene:
                                DOCK3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000003.12:g.51333227C>T, NC_000003.11:g.51370658C>T, NG_028012.2:g.662987C>T, NM_004947.5:c.3585C>T, NM_004947.4:c.3585C>T, XM_005264916.5:c.3558C>T, XM_005264916.4:c.3558C>T, XM_005264916.3:c.3558C>T, XM_005264916.2:c.3558C>T, XM_005264916.1:c.3558C>T, XM_005264918.5:c.3438C>T, XM_005264918.4:c.3438C>T, XM_005264918.3:c.3438C>T, XM_005264918.2:c.3438C>T, XM_005264918.1:c.3438C>T, XM_011533441.4:c.2550C>T, XM_011533441.3:c.2550C>T, XM_011533441.2:c.2550C>T, XM_011533441.1:c.2550C>T, XM_005264914.4:c.3585C>T, XM_005264914.3:c.3585C>T, XM_005264914.2:c.3585C>T, XM_005264914.1:c.3585C>T, XM_005264915.4:c.3585C>T, XM_005264915.3:c.3585C>T, XM_005264915.2:c.3585C>T, XM_005264915.1:c.3585C>T, XM_005264917.4:c.3543C>T, XM_005264917.3:c.3543C>T, XM_005264917.2:c.3543C>T, XM_005264917.1:c.3543C>T, XM_006713008.4:c.3585C>T, XM_006713008.3:c.3585C>T, XM_006713008.2:c.3585C>T, XM_006713008.1:c.3585C>T, XM_006713009.4:c.3585C>T, XM_006713009.3:c.3585C>T, XM_006713009.2:c.3585C>T, XM_006713009.1:c.3585C>T, XM_006713010.4:c.3585C>T, XM_006713010.3:c.3585C>T, XM_006713010.2:c.3585C>T, XM_006713010.1:c.3585C>T, XM_017005825.3:c.3585C>T, XM_017005825.2:c.3585C>T, XM_017005825.1:c.3585C>T, XM_017005826.3:c.3585C>T, XM_017005826.2:c.3585C>T, XM_017005826.1:c.3585C>T, XM_017005827.3:c.2772C>T, XM_017005827.2:c.2772C>T, XM_017005827.1:c.2772C>T, XM_011533443.3:c.897C>T, XM_011533443.2:c.897C>T, XM_011533443.1:c.897C>T, XM_011533445.3:c.723C>T, XM_011533445.2:c.723C>T, XM_011533445.1:c.723C>T, XM_011533444.3:c.897C>T, XM_011533444.2:c.897C>T, XM_011533444.1:c.897C>T, XM_047447595.1:c.3516C>T, XM_047447596.1:c.3516C>T, XM_047447597.1:c.3558C>T, XM_047447598.1:c.3558C>T, XM_047447599.1:c.3411C>T, XM_047447600.1:c.3585C>T, XM_047447602.1:c.3585C>T, XM_047447601.1:c.3516C>T, XM_047447603.1:c.3585C>T, XM_047447605.1:c.3231C>T, XM_047447604.1:c.3558C>T, XM_047447606.1:c.2424C>T

                                16.

                                rs1480029713 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  3:51312860 (GRCh38)
                                  3:51350291 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:51312859:G:C
                                  Gene:
                                  DOCK3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.51312860G>C, NC_000003.11:g.51350291G>C, NG_028012.2:g.642620G>C, NM_004947.5:c.3211G>C, NM_004947.4:c.3211G>C, XM_005264916.5:c.3211G>C, XM_005264916.4:c.3211G>C, XM_005264916.3:c.3211G>C, XM_005264916.2:c.3211G>C, XM_005264916.1:c.3211G>C, XM_005264918.5:c.3064G>C, XM_005264918.4:c.3064G>C, XM_005264918.3:c.3064G>C, XM_005264918.2:c.3064G>C, XM_005264918.1:c.3064G>C, XM_011533441.4:c.2176G>C, XM_011533441.3:c.2176G>C, XM_011533441.2:c.2176G>C, XM_011533441.1:c.2176G>C, XM_005264914.4:c.3211G>C, XM_005264914.3:c.3211G>C, XM_005264914.2:c.3211G>C, XM_005264914.1:c.3211G>C, XM_005264915.4:c.3211G>C, XM_005264915.3:c.3211G>C, XM_005264915.2:c.3211G>C, XM_005264915.1:c.3211G>C, XM_005264917.4:c.3169G>C, XM_005264917.3:c.3169G>C, XM_005264917.2:c.3169G>C, XM_005264917.1:c.3169G>C, XM_006713008.4:c.3211G>C, XM_006713008.3:c.3211G>C, XM_006713008.2:c.3211G>C, XM_006713008.1:c.3211G>C, XM_006713009.4:c.3211G>C, XM_006713009.3:c.3211G>C, XM_006713009.2:c.3211G>C, XM_006713009.1:c.3211G>C, XM_006713010.4:c.3211G>C, XM_006713010.3:c.3211G>C, XM_006713010.2:c.3211G>C, XM_006713010.1:c.3211G>C, XM_017005825.3:c.3211G>C, XM_017005825.2:c.3211G>C, XM_017005825.1:c.3211G>C, XM_017005826.3:c.3211G>C, XM_017005826.2:c.3211G>C, XM_017005826.1:c.3211G>C, XM_017005827.3:c.2398G>C, XM_017005827.2:c.2398G>C, XM_017005827.1:c.2398G>C, XM_011533443.3:c.523G>C, XM_011533443.2:c.523G>C, XM_011533443.1:c.523G>C, XM_011533445.3:c.349G>C, XM_011533445.2:c.349G>C, XM_011533445.1:c.349G>C, XM_011533444.3:c.523G>C, XM_011533444.2:c.523G>C, XM_011533444.1:c.523G>C, XM_047447595.1:c.3169G>C, XM_047447596.1:c.3169G>C, XM_047447597.1:c.3211G>C, XM_047447598.1:c.3211G>C, XM_047447599.1:c.3064G>C, XM_047447600.1:c.3211G>C, XM_047447602.1:c.3211G>C, XM_047447601.1:c.3169G>C, XM_047447603.1:c.3211G>C, XM_047447605.1:c.2857G>C, XM_047447604.1:c.3211G>C, XM_047447606.1:c.2050G>C, NP_004938.1:p.Val1071Leu, XP_005264973.1:p.Val1071Leu, XP_005264975.1:p.Val1022Leu, XP_011531743.1:p.Val726Leu, XP_005264971.1:p.Val1071Leu, XP_005264972.1:p.Val1071Leu, XP_005264974.1:p.Val1057Leu, XP_006713071.1:p.Val1071Leu, XP_006713072.1:p.Val1071Leu, XP_006713073.1:p.Val1071Leu, XP_016861314.1:p.Val1071Leu, XP_016861315.1:p.Val1071Leu, XP_016861316.1:p.Val800Leu, XP_011531745.1:p.Val175Leu, XP_011531747.1:p.Val117Leu, XP_011531746.1:p.Val175Leu, XP_047303551.1:p.Val1057Leu, XP_047303552.1:p.Val1057Leu, XP_047303553.1:p.Val1071Leu, XP_047303554.1:p.Val1071Leu, XP_047303555.1:p.Val1022Leu, XP_047303556.1:p.Val1071Leu, XP_047303558.1:p.Val1071Leu, XP_047303557.1:p.Val1057Leu, XP_047303559.1:p.Val1071Leu, XP_047303561.1:p.Val953Leu, XP_047303560.1:p.Val1071Leu, XP_047303562.1:p.Val684Leu

                                  17.

                                  rs1479958020 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:51338395 (GRCh38)
                                    3:51375826 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:51338394:G:A
                                    Gene:
                                    DOCK3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_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.51338395G>A, NC_000003.11:g.51375826G>A, NG_028012.2:g.668155G>A, NM_004947.5:c.3648G>A, NM_004947.4:c.3648G>A, XM_005264916.5:c.3621G>A, XM_005264916.4:c.3621G>A, XM_005264916.3:c.3621G>A, XM_005264916.2:c.3621G>A, XM_005264916.1:c.3621G>A, XM_005264918.5:c.3501G>A, XM_005264918.4:c.3501G>A, XM_005264918.3:c.3501G>A, XM_005264918.2:c.3501G>A, XM_005264918.1:c.3501G>A, XM_011533441.4:c.2613G>A, XM_011533441.3:c.2613G>A, XM_011533441.2:c.2613G>A, XM_011533441.1:c.2613G>A, XM_005264914.4:c.3648G>A, XM_005264914.3:c.3648G>A, XM_005264914.2:c.3648G>A, XM_005264914.1:c.3648G>A, XM_005264915.4:c.3648G>A, XM_005264915.3:c.3648G>A, XM_005264915.2:c.3648G>A, XM_005264915.1:c.3648G>A, XM_005264917.4:c.3606G>A, XM_005264917.3:c.3606G>A, XM_005264917.2:c.3606G>A, XM_005264917.1:c.3606G>A, XM_006713008.4:c.3648G>A, XM_006713008.3:c.3648G>A, XM_006713008.2:c.3648G>A, XM_006713008.1:c.3648G>A, XM_006713009.4:c.3648G>A, XM_006713009.3:c.3648G>A, XM_006713009.2:c.3648G>A, XM_006713009.1:c.3648G>A, XM_006713010.4:c.3648G>A, XM_006713010.3:c.3648G>A, XM_006713010.2:c.3648G>A, XM_006713010.1:c.3648G>A, XM_017005825.3:c.3648G>A, XM_017005825.2:c.3648G>A, XM_017005825.1:c.3648G>A, XM_017005826.3:c.3648G>A, XM_017005826.2:c.3648G>A, XM_017005826.1:c.3648G>A, XM_017005827.3:c.2835G>A, XM_017005827.2:c.2835G>A, XM_017005827.1:c.2835G>A, XM_011533443.3:c.960G>A, XM_011533443.2:c.960G>A, XM_011533443.1:c.960G>A, XM_011533445.3:c.786G>A, XM_011533445.2:c.786G>A, XM_011533445.1:c.786G>A, XM_011533444.3:c.960G>A, XM_011533444.2:c.960G>A, XM_011533444.1:c.960G>A, XM_047447595.1:c.3579G>A, XM_047447596.1:c.3579G>A, XM_047447597.1:c.3621G>A, XM_047447598.1:c.3621G>A, XM_047447599.1:c.3474G>A, XM_047447600.1:c.3648G>A, XM_047447602.1:c.3648G>A, XM_047447601.1:c.3579G>A, XM_047447603.1:c.3648G>A, XM_047447605.1:c.3294G>A, XM_047447604.1:c.3621G>A, XM_047447606.1:c.2487G>A

                                    18.

                                    rs1479522455 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      3:51310252 (GRCh38)
                                      3:51347683 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:51310251:T:C,NC_000003.12:51310251:T:G
                                      Gene:
                                      DOCK3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000447/2 (ALFA)
                                      C=0.000013/3 (GnomAD_exomes)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000446/2 (Estonian)
                                      HGVS:
                                      NC_000003.12:g.51310252T>C, NC_000003.12:g.51310252T>G, NC_000003.11:g.51347683T>C, NC_000003.11:g.51347683T>G, NG_028012.2:g.640012T>C, NG_028012.2:g.640012T>G, NM_004947.5:c.2943T>C, NM_004947.5:c.2943T>G, NM_004947.4:c.2943T>C, NM_004947.4:c.2943T>G, XM_005264916.5:c.2943T>C, XM_005264916.5:c.2943T>G, XM_005264916.4:c.2943T>C, XM_005264916.4:c.2943T>G, XM_005264916.3:c.2943T>C, XM_005264916.3:c.2943T>G, XM_005264916.2:c.2943T>C, XM_005264916.2:c.2943T>G, XM_005264916.1:c.2943T>C, XM_005264916.1:c.2943T>G, XM_005264918.5:c.2796T>C, XM_005264918.5:c.2796T>G, XM_005264918.4:c.2796T>C, XM_005264918.4:c.2796T>G, XM_005264918.3:c.2796T>C, XM_005264918.3:c.2796T>G, XM_005264918.2:c.2796T>C, XM_005264918.2:c.2796T>G, XM_005264918.1:c.2796T>C, XM_005264918.1:c.2796T>G, XM_011533441.4:c.1908T>C, XM_011533441.4:c.1908T>G, XM_011533441.3:c.1908T>C, XM_011533441.3:c.1908T>G, XM_011533441.2:c.1908T>C, XM_011533441.2:c.1908T>G, XM_011533441.1:c.1908T>C, XM_011533441.1:c.1908T>G, XM_005264914.4:c.2943T>C, XM_005264914.4:c.2943T>G, XM_005264914.3:c.2943T>C, XM_005264914.3:c.2943T>G, XM_005264914.2:c.2943T>C, XM_005264914.2:c.2943T>G, XM_005264914.1:c.2943T>C, XM_005264914.1:c.2943T>G, XM_005264915.4:c.2943T>C, XM_005264915.4:c.2943T>G, XM_005264915.3:c.2943T>C, XM_005264915.3:c.2943T>G, XM_005264915.2:c.2943T>C, XM_005264915.2:c.2943T>G, XM_005264915.1:c.2943T>C, XM_005264915.1:c.2943T>G, XM_005264917.4:c.2901T>C, XM_005264917.4:c.2901T>G, XM_005264917.3:c.2901T>C, XM_005264917.3:c.2901T>G, XM_005264917.2:c.2901T>C, XM_005264917.2:c.2901T>G, XM_005264917.1:c.2901T>C, XM_005264917.1:c.2901T>G, XM_006713008.4:c.2943T>C, XM_006713008.4:c.2943T>G, XM_006713008.3:c.2943T>C, XM_006713008.3:c.2943T>G, XM_006713008.2:c.2943T>C, XM_006713008.2:c.2943T>G, XM_006713008.1:c.2943T>C, XM_006713008.1:c.2943T>G, XM_006713009.4:c.2943T>C, XM_006713009.4:c.2943T>G, XM_006713009.3:c.2943T>C, XM_006713009.3:c.2943T>G, XM_006713009.2:c.2943T>C, XM_006713009.2:c.2943T>G, XM_006713009.1:c.2943T>C, XM_006713009.1:c.2943T>G, XM_006713010.4:c.2943T>C, XM_006713010.4:c.2943T>G, XM_006713010.3:c.2943T>C, XM_006713010.3:c.2943T>G, XM_006713010.2:c.2943T>C, XM_006713010.2:c.2943T>G, XM_006713010.1:c.2943T>C, XM_006713010.1:c.2943T>G, XM_017005825.3:c.2943T>C, XM_017005825.3:c.2943T>G, XM_017005825.2:c.2943T>C, XM_017005825.2:c.2943T>G, XM_017005825.1:c.2943T>C, XM_017005825.1:c.2943T>G, XM_017005826.3:c.2943T>C, XM_017005826.3:c.2943T>G, XM_017005826.2:c.2943T>C, XM_017005826.2:c.2943T>G, XM_017005826.1:c.2943T>C, XM_017005826.1:c.2943T>G, XM_017005827.3:c.2130T>C, XM_017005827.3:c.2130T>G, XM_017005827.2:c.2130T>C, XM_017005827.2:c.2130T>G, XM_017005827.1:c.2130T>C, XM_017005827.1:c.2130T>G, XM_011533443.3:c.255T>C, XM_011533443.3:c.255T>G, XM_011533443.2:c.255T>C, XM_011533443.2:c.255T>G, XM_011533443.1:c.255T>C, XM_011533443.1:c.255T>G, XM_011533445.3:c.81T>C, XM_011533445.3:c.81T>G, XM_011533445.2:c.81T>C, XM_011533445.2:c.81T>G, XM_011533445.1:c.81T>C, XM_011533445.1:c.81T>G, XM_011533444.3:c.255T>C, XM_011533444.3:c.255T>G, XM_011533444.2:c.255T>C, XM_011533444.2:c.255T>G, XM_011533444.1:c.255T>C, XM_011533444.1:c.255T>G, XM_047447595.1:c.2901T>C, XM_047447595.1:c.2901T>G, XM_047447596.1:c.2901T>C, XM_047447596.1:c.2901T>G, XM_047447597.1:c.2943T>C, XM_047447597.1:c.2943T>G, XM_047447598.1:c.2943T>C, XM_047447598.1:c.2943T>G, XM_047447599.1:c.2796T>C, XM_047447599.1:c.2796T>G, XM_047447600.1:c.2943T>C, XM_047447600.1:c.2943T>G, XM_047447602.1:c.2943T>C, XM_047447602.1:c.2943T>G, XM_047447601.1:c.2901T>C, XM_047447601.1:c.2901T>G, XM_047447603.1:c.2943T>C, XM_047447603.1:c.2943T>G, XM_047447605.1:c.2589T>C, XM_047447605.1:c.2589T>G, XM_047447604.1:c.2943T>C, XM_047447604.1:c.2943T>G, XM_047447606.1:c.1782T>C, XM_047447606.1:c.1782T>G, NP_004938.1:p.Phe981Leu, XP_005264973.1:p.Phe981Leu, XP_005264975.1:p.Phe932Leu, XP_011531743.1:p.Phe636Leu, XP_005264971.1:p.Phe981Leu, XP_005264972.1:p.Phe981Leu, XP_005264974.1:p.Phe967Leu, XP_006713071.1:p.Phe981Leu, XP_006713072.1:p.Phe981Leu, XP_006713073.1:p.Phe981Leu, XP_016861314.1:p.Phe981Leu, XP_016861315.1:p.Phe981Leu, XP_016861316.1:p.Phe710Leu, XP_011531745.1:p.Phe85Leu, XP_011531747.1:p.Phe27Leu, XP_011531746.1:p.Phe85Leu, XP_047303551.1:p.Phe967Leu, XP_047303552.1:p.Phe967Leu, XP_047303553.1:p.Phe981Leu, XP_047303554.1:p.Phe981Leu, XP_047303555.1:p.Phe932Leu, XP_047303556.1:p.Phe981Leu, XP_047303558.1:p.Phe981Leu, XP_047303557.1:p.Phe967Leu, XP_047303559.1:p.Phe981Leu, XP_047303561.1:p.Phe863Leu, XP_047303560.1:p.Phe981Leu, XP_047303562.1:p.Phe594Leu

                                      19.

                                      rs1479492352 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:51270988 (GRCh38)
                                        3:51308419 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:51270987:C:T
                                        Gene:
                                        DOCK3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.51270988C>T, NC_000003.11:g.51308419C>T, NG_028012.2:g.600748C>T, NM_004947.5:c.2529C>T, NM_004947.4:c.2529C>T, XM_005264916.5:c.2529C>T, XM_005264916.4:c.2529C>T, XM_005264916.3:c.2529C>T, XM_005264916.2:c.2529C>T, XM_005264916.1:c.2529C>T, XM_005264918.5:c.2529C>T, XM_005264918.4:c.2529C>T, XM_005264918.3:c.2529C>T, XM_005264918.2:c.2529C>T, XM_005264918.1:c.2529C>T, XM_011533441.4:c.1494C>T, XM_011533441.3:c.1494C>T, XM_011533441.2:c.1494C>T, XM_011533441.1:c.1494C>T, XM_005264914.4:c.2529C>T, XM_005264914.3:c.2529C>T, XM_005264914.2:c.2529C>T, XM_005264914.1:c.2529C>T, XM_005264915.4:c.2529C>T, XM_005264915.3:c.2529C>T, XM_005264915.2:c.2529C>T, XM_005264915.1:c.2529C>T, XM_005264917.4:c.2529C>T, XM_005264917.3:c.2529C>T, XM_005264917.2:c.2529C>T, XM_005264917.1:c.2529C>T, XM_006713008.4:c.2529C>T, XM_006713008.3:c.2529C>T, XM_006713008.2:c.2529C>T, XM_006713008.1:c.2529C>T, XM_006713009.4:c.2529C>T, XM_006713009.3:c.2529C>T, XM_006713009.2:c.2529C>T, XM_006713009.1:c.2529C>T, XM_006713010.4:c.2529C>T, XM_006713010.3:c.2529C>T, XM_006713010.2:c.2529C>T, XM_006713010.1:c.2529C>T, XM_017005825.3:c.2529C>T, XM_017005825.2:c.2529C>T, XM_017005825.1:c.2529C>T, XM_017005826.3:c.2529C>T, XM_017005826.2:c.2529C>T, XM_017005826.1:c.2529C>T, XM_017005827.3:c.1716C>T, XM_017005827.2:c.1716C>T, XM_017005827.1:c.1716C>T, XM_047447595.1:c.2529C>T, XM_047447596.1:c.2529C>T, XM_047447597.1:c.2529C>T, XM_047447598.1:c.2529C>T, XM_047447599.1:c.2529C>T, XM_047447600.1:c.2529C>T, XM_047447602.1:c.2529C>T, XM_047447601.1:c.2529C>T, XM_047447603.1:c.2529C>T, XM_047447605.1:c.2175C>T, XM_047447604.1:c.2529C>T, XM_047447606.1:c.1368C>T

                                        20.

                                        rs1479142343 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          3:51360540 (GRCh38)
                                          3:51397971 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:51360539:T:G
                                          Gene:
                                          DOCK3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:
                                          NC_000003.12:g.51360540T>G, NC_000003.11:g.51397971T>G, NG_028012.2:g.690300T>G, NM_004947.5:c.4914T>G, NM_004947.4:c.4914T>G, XM_005264916.5:c.4887T>G, XM_005264916.4:c.4887T>G, XM_005264916.3:c.4887T>G, XM_005264916.2:c.4887T>G, XM_005264916.1:c.4887T>G, XM_005264918.5:c.4767T>G, XM_005264918.4:c.4767T>G, XM_005264918.3:c.4767T>G, XM_005264918.2:c.4767T>G, XM_005264918.1:c.4767T>G, XM_011533441.4:c.3879T>G, XM_011533441.3:c.3879T>G, XM_011533441.2:c.3879T>G, XM_011533441.1:c.3879T>G, XM_005264914.4:c.4914T>G, XM_005264914.3:c.4914T>G, XM_005264914.2:c.4914T>G, XM_005264914.1:c.4914T>G, XM_005264915.4:c.4914T>G, XM_005264915.3:c.4914T>G, XM_005264915.2:c.4914T>G, XM_005264915.1:c.4914T>G, XM_005264917.4:c.4872T>G, XM_005264917.3:c.4872T>G, XM_005264917.2:c.4872T>G, XM_005264917.1:c.4872T>G, XM_006713008.4:c.4914T>G, XM_006713008.3:c.4914T>G, XM_006713008.2:c.4914T>G, XM_006713008.1:c.4914T>G, XM_006713009.4:c.4827T>G, XM_006713009.3:c.4827T>G, XM_006713009.2:c.4827T>G, XM_006713009.1:c.4827T>G, XM_006713010.4:c.4914T>G, XM_006713010.3:c.4914T>G, XM_006713010.2:c.4914T>G, XM_006713010.1:c.4914T>G, XM_017005825.3:c.4914T>G, XM_017005825.2:c.4914T>G, XM_017005825.1:c.4914T>G, XM_017005826.3:c.4914T>G, XM_017005826.2:c.4914T>G, XM_017005826.1:c.4914T>G, XM_017005827.3:c.4101T>G, XM_017005827.2:c.4101T>G, XM_017005827.1:c.4101T>G, XM_011533443.3:c.2226T>G, XM_011533443.2:c.2226T>G, XM_011533443.1:c.2226T>G, XM_011533445.3:c.2052T>G, XM_011533445.2:c.2052T>G, XM_011533445.1:c.2052T>G, XM_011533444.3:c.2226T>G, XM_011533444.2:c.2226T>G, XM_011533444.1:c.2226T>G, XM_047447595.1:c.4845T>G, XM_047447596.1:c.4845T>G, XM_047447597.1:c.4887T>G, XM_047447598.1:c.4887T>G, XM_047447599.1:c.4740T>G, XM_047447600.1:c.4914T>G, XM_047447602.1:c.4827T>G, XM_047447601.1:c.4845T>G, XM_047447603.1:c.4827T>G, XM_047447605.1:c.4560T>G, XM_047447604.1:c.4887T>G, XM_047447606.1:c.3753T>G

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