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1.

rs2455994 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:148961952 (GRCh38)
    1:144922523 (GRCh37)
    Canonical SPDI:
    NC_000001.11:148961951:G:A
    Gene:
    PDE4DIP (Varview)
    Functional Consequence:
    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.235362/7525 (ALFA)
    A=0.000022/3 (GnomAD)
    T=0.030847/517 (TOMMO)
    T=0.04471/131 (KOREAN)
    T=0.21161/113 (MGP)
    T=0.290899/35307 (ExAC)
    T=0.342947/4459 (GoESP)
    T=0.402778/87 (Qatari)
    C=0.5/103 (SGDP_PRJ)
    C=0.5/15 (Siberian)
    HGVS:
    NC_000001.11:g.148961952G>A, NW_003871055.3:g.5777365G>A, NG_027693.2:g.158777G>A, NM_014644.7:c.884G>A, NM_014644.6:c.884G>A, NM_014644.5:c.884G>A, NM_001198834.5:c.884G>A, NM_001198834.4:c.884G>A, NM_001198834.3:c.884G>A, NM_001350521.4:c.1295G>A, NM_001350521.3:c.1295G>A, NM_001350521.2:c.1295G>A, NM_001350521.1:c.1295G>A, NM_001198832.4:c.1082G>A, NM_001198832.3:c.1082G>A, NM_001198832.2:c.1082G>A, NM_001002812.4:c.884G>A, NM_001002812.3:c.884G>A, NM_001002812.2:c.884G>A, NM_001350522.3:c.1082G>A, NM_001350522.2:c.1082G>A, NM_001350522.1:c.1082G>A, NM_001350523.3:c.1082G>A, NM_001350523.2:c.1082G>A, NM_001350523.1:c.1082G>A, NM_001002811.3:c.1373G>A, NM_001002811.2:c.1373G>A, NM_001350520.2:c.1373G>A, NM_001350520.1:c.1373G>A, NM_001377392.2:c.1295G>A, NM_001377392.1:c.1295G>A, NM_001377393.2:c.1082G>A, NM_001377393.1:c.1082G>A, NM_001395297.1:c.1373G>A, NM_001395315.1:c.1373G>A, NM_001395301.1:c.1373G>A, NM_001395299.1:c.1373G>A, NM_001395426.1:c.1082G>A, NM_001395298.1:c.1295G>A, NM_001395300.1:c.1184G>A, NM_001395317.1:c.1295G>A, NM_001395320.1:c.1082G>A, NM_001395305.1:c.1082G>A, NM_001395309.1:c.1373G>A, NM_001395304.1:c.1082G>A, NM_001395321.1:c.971G>A, NM_001395303.1:c.1295G>A, NM_001395306.1:c.1082G>A, NM_001395302.1:c.1184G>A, NM_001395310.1:c.1082G>A, NM_001395308.1:c.1082G>A, NM_001395312.1:c.1082G>A, NM_001395313.1:c.971G>A, NM_001395307.1:c.1295G>A, NM_001395311.1:c.1082G>A, NM_001395314.1:c.1082G>A, NM_001395323.1:c.245G>A, NM_001395324.1:c.245G>A, NM_001395319.1:c.1034G>A, NM_001395316.1:c.1295G>A, NM_001395318.1:c.1082G>A, NM_001395322.1:c.788G>A, NC_000001.10:g.144922523C>T, XM_005272981.4:c.1373G>A, XM_005272981.3:c.1373G>A, XM_005272981.2:c.1373G>A, XM_005272981.1:c.1373G>A, XM_011510176.3:c.1295G>A, XM_011510176.2:c.1295G>A, XM_011510176.1:c.1295G>A, XM_017002881.2:c.1373G>A, XM_017002881.1:c.1373G>A, XM_017002882.2:c.1373G>A, XM_017002882.1:c.1373G>A, XM_017002884.2:c.1373G>A, XM_017002884.1:c.1373G>A, XM_017002879.2:c.1373G>A, XM_017002879.1:c.1373G>A, XM_017002883.2:c.1373G>A, XM_017002883.1:c.1373G>A, XM_017002885.2:c.1373G>A, XM_017002885.1:c.1373G>A, XM_017002886.2:c.1373G>A, XM_017002886.1:c.1373G>A, XM_017002896.2:c.1373G>A, XM_017002896.1:c.1373G>A, XM_017002897.2:c.1373G>A, XM_017002897.1:c.1373G>A, XM_017002890.2:c.1373G>A, XM_017002890.1:c.1373G>A, XM_017002901.2:c.1373G>A, XM_017002901.1:c.1373G>A, XM_017002900.2:c.1373G>A, XM_017002900.1:c.1373G>A, XM_024451068.2:c.1295G>A, XM_024451068.1:c.1295G>A, XM_047435073.1:c.1373G>A, XM_047435074.1:c.1373G>A, XM_047435072.1:c.1373G>A, XM_047435064.1:c.1295G>A, XM_047435063.1:c.1295G>A, XM_047435065.1:c.1295G>A, XM_047435070.1:c.1295G>A, XM_047435081.1:c.1373G>A, XM_047435066.1:c.1295G>A, XM_047435071.1:c.1295G>A, XM_047435076.1:c.1295G>A, XM_047435075.1:c.1295G>A, XM_047435082.1:c.1082G>A, NP_055459.5:p.Arg295His, NP_001185763.3:p.Arg295His, NP_001337450.1:p.Arg432His, NP_001185761.2:p.Arg361His, NP_001002812.2:p.Arg295His, NP_001337451.1:p.Arg361His, NP_001337452.1:p.Arg361His, NP_001002811.2:p.Arg458His, NP_001337449.1:p.Arg458His, NP_001364321.1:p.Arg432His, NP_001364322.1:p.Arg361His, NP_001382226.1:p.Arg458His, NP_001382244.1:p.Arg458His, NP_001382230.1:p.Arg458His, NP_001382228.1:p.Arg458His, NP_001382355.1:p.Arg361His, NP_001382227.1:p.Arg432His, NP_001382229.1:p.Arg395His, NP_001382246.1:p.Arg432His, NP_001382249.1:p.Arg361His, NP_001382234.1:p.Arg361His, NP_001382238.1:p.Arg458His, NP_001382233.1:p.Arg361His, NP_001382250.1:p.Arg324His, NP_001382232.1:p.Arg432His, NP_001382235.1:p.Arg361His, NP_001382231.1:p.Arg395His, NP_001382239.1:p.Arg361His, NP_001382237.1:p.Arg361His, NP_001382241.1:p.Arg361His, NP_001382242.1:p.Arg324His, NP_001382236.1:p.Arg432His, NP_001382240.1:p.Arg361His, NP_001382243.1:p.Arg361His, NP_001382252.1:p.Arg82His, NP_001382253.1:p.Arg82His, NP_001382248.1:p.Arg345His, NP_001382245.1:p.Arg432His, NP_001382247.1:p.Arg361His, NP_001382251.1:p.Arg263His, XP_005273038.2:p.Arg458His, XP_011508478.1:p.Arg432His, XP_016858370.1:p.Arg458His, XP_016858371.1:p.Arg458His, XP_016858373.1:p.Arg458His, XP_016858368.1:p.Arg458His, XP_016858372.1:p.Arg458His, XP_016858374.1:p.Arg458His, XP_016858375.1:p.Arg458His, XP_016858385.1:p.Arg458His, XP_016858386.1:p.Arg458His, XP_016858379.1:p.Arg458His, XP_016858390.1:p.Arg458His, XP_016858389.1:p.Arg458His, XP_024306836.1:p.Arg432His, XP_047291029.1:p.Arg458His, XP_047291030.1:p.Arg458His, XP_047291028.1:p.Arg458His, XP_047291020.1:p.Arg432His, XP_047291019.1:p.Arg432His, XP_047291021.1:p.Arg432His, XP_047291026.1:p.Arg432His, XP_047291037.1:p.Arg458His, XP_047291022.1:p.Arg432His, XP_047291027.1:p.Arg432His, XP_047291032.1:p.Arg432His, XP_047291031.1:p.Arg432His, XP_047291038.1:p.Arg361His

    2.

    rs3215779 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      A>-,AA [Show Flanks]
      Chromosome:
      1:148960745 (GRCh38)
      1:144923729 (GRCh37)
      Canonical SPDI:
      NC_000001.11:148960744:AA:A,NC_000001.11:148960744:AA:AAA
      Gene:
      PDE4DIP (Varview)
      Functional Consequence:
      frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AA=0.02397/2177 (ALFA)
      -=0.192938/23425 (ExAC)
      -=0.351443/207 (Vietnamese)
      T=0.571062/9571 (TOMMO)
      T=0.814696/4080 (1000Genomes)
      HGVS:
      NC_000001.11:g.148960746del, NC_000001.11:g.148960746dup, NW_003871055.3:g.5776159del, NW_003871055.3:g.5776159dup, NG_027693.2:g.157571del, NG_027693.2:g.157571dup, NM_014644.7:c.729del, NM_014644.7:c.729dup, NM_014644.6:c.729del, NM_014644.6:c.729dup, NM_014644.5:c.729del, NM_014644.5:c.729dup, NM_001198834.5:c.729del, NM_001198834.5:c.729dup, NM_001198834.4:c.729del, NM_001198834.4:c.729dup, NM_001198834.3:c.729del, NM_001198834.3:c.729dup, NM_001350521.4:c.1140del, NM_001350521.4:c.1140dup, NM_001350521.3:c.1140del, NM_001350521.3:c.1140dup, NM_001350521.2:c.1140del, NM_001350521.2:c.1140dup, NM_001350521.1:c.1140del, NM_001350521.1:c.1140dup, NM_001198832.4:c.927del, NM_001198832.4:c.927dup, NM_001198832.3:c.927del, NM_001198832.3:c.927dup, NM_001198832.2:c.927del, NM_001198832.2:c.927dup, NM_001002812.4:c.729del, NM_001002812.4:c.729dup, NM_001002812.3:c.729del, NM_001002812.3:c.729dup, NM_001002812.2:c.729del, NM_001002812.2:c.729dup, NM_001350522.3:c.927del, NM_001350522.3:c.927dup, NM_001350522.2:c.927del, NM_001350522.2:c.927dup, NM_001350522.1:c.927del, NM_001350522.1:c.927dup, NM_001350523.3:c.927del, NM_001350523.3:c.927dup, NM_001350523.2:c.927del, NM_001350523.2:c.927dup, NM_001350523.1:c.927del, NM_001350523.1:c.927dup, NM_001002811.3:c.1218del, NM_001002811.3:c.1218dup, NM_001002811.2:c.1218del, NM_001002811.2:c.1218dup, NM_001350520.2:c.1218del, NM_001350520.2:c.1218dup, NM_001350520.1:c.1218del, NM_001350520.1:c.1218dup, NM_001377392.2:c.1140del, NM_001377392.2:c.1140dup, NM_001377392.1:c.1140del, NM_001377392.1:c.1140dup, NM_001377393.2:c.927del, NM_001377393.2:c.927dup, NM_001377393.1:c.927del, NM_001377393.1:c.927dup, NM_001395297.1:c.1218del, NM_001395297.1:c.1218dup, NM_001395315.1:c.1218del, NM_001395315.1:c.1218dup, NM_001395301.1:c.1218del, NM_001395301.1:c.1218dup, NM_001395299.1:c.1218del, NM_001395299.1:c.1218dup, NM_001395426.1:c.927del, NM_001395426.1:c.927dup, NM_001395298.1:c.1140del, NM_001395298.1:c.1140dup, NM_001395300.1:c.1029del, NM_001395300.1:c.1029dup, NM_001395317.1:c.1140del, NM_001395317.1:c.1140dup, NM_001395320.1:c.927del, NM_001395320.1:c.927dup, NM_001395305.1:c.927del, NM_001395305.1:c.927dup, NM_001395309.1:c.1218del, NM_001395309.1:c.1218dup, NM_001395304.1:c.927del, NM_001395304.1:c.927dup, NM_001395321.1:c.816del, NM_001395321.1:c.816dup, NM_001395303.1:c.1140del, NM_001395303.1:c.1140dup, NM_001395306.1:c.927del, NM_001395306.1:c.927dup, NM_001395302.1:c.1029del, NM_001395302.1:c.1029dup, NM_001395310.1:c.927del, NM_001395310.1:c.927dup, NM_001395308.1:c.927del, NM_001395308.1:c.927dup, NM_001395312.1:c.927del, NM_001395312.1:c.927dup, NM_001395313.1:c.816del, NM_001395313.1:c.816dup, NM_001395307.1:c.1140del, NM_001395307.1:c.1140dup, NM_001395311.1:c.927del, NM_001395311.1:c.927dup, NM_001395314.1:c.927del, NM_001395314.1:c.927dup, NM_001395323.1:c.90del, NM_001395323.1:c.90dup, NM_001395324.1:c.90del, NM_001395324.1:c.90dup, NM_001395319.1:c.879del, NM_001395319.1:c.879dup, NM_001395316.1:c.1140del, NM_001395316.1:c.1140dup, NM_001395318.1:c.927del, NM_001395318.1:c.927dup, NM_001395322.1:c.633del, NM_001395322.1:c.633dup, NC_000001.10:g.144923730del, NC_000001.10:g.144923730dup, XM_005272981.4:c.1218del, XM_005272981.4:c.1218dup, XM_005272981.3:c.1218del, XM_005272981.3:c.1218dup, XM_005272981.2:c.1218del, XM_005272981.2:c.1218dup, XM_005272981.1:c.1218del, XM_005272981.1:c.1218dup, XM_011510176.3:c.1140del, XM_011510176.3:c.1140dup, XM_011510176.2:c.1140del, XM_011510176.2:c.1140dup, XM_011510176.1:c.1140del, XM_011510176.1:c.1140dup, XM_017002881.2:c.1218del, XM_017002881.2:c.1218dup, XM_017002881.1:c.1218del, XM_017002881.1:c.1218dup, XM_017002882.2:c.1218del, XM_017002882.2:c.1218dup, XM_017002882.1:c.1218del, XM_017002882.1:c.1218dup, XM_017002884.2:c.1218del, XM_017002884.2:c.1218dup, XM_017002884.1:c.1218del, XM_017002884.1:c.1218dup, XM_017002879.2:c.1218del, XM_017002879.2:c.1218dup, XM_017002879.1:c.1218del, XM_017002879.1:c.1218dup, XM_017002883.2:c.1218del, XM_017002883.2:c.1218dup, XM_017002883.1:c.1218del, XM_017002883.1:c.1218dup, XM_017002885.2:c.1218del, XM_017002885.2:c.1218dup, XM_017002885.1:c.1218del, XM_017002885.1:c.1218dup, XM_017002886.2:c.1218del, XM_017002886.2:c.1218dup, XM_017002886.1:c.1218del, XM_017002886.1:c.1218dup, XM_017002896.2:c.1218del, XM_017002896.2:c.1218dup, XM_017002896.1:c.1218del, XM_017002896.1:c.1218dup, XM_017002897.2:c.1218del, XM_017002897.2:c.1218dup, XM_017002897.1:c.1218del, XM_017002897.1:c.1218dup, XM_017002890.2:c.1218del, XM_017002890.2:c.1218dup, XM_017002890.1:c.1218del, XM_017002890.1:c.1218dup, XM_017002901.2:c.1218del, XM_017002901.2:c.1218dup, XM_017002901.1:c.1218del, XM_017002901.1:c.1218dup, XM_017002900.2:c.1218del, XM_017002900.2:c.1218dup, XM_017002900.1:c.1218del, XM_017002900.1:c.1218dup, XM_024451068.2:c.1140del, XM_024451068.2:c.1140dup, XM_024451068.1:c.1140del, XM_024451068.1:c.1140dup, XM_047435073.1:c.1218del, XM_047435073.1:c.1218dup, XM_047435074.1:c.1218del, XM_047435074.1:c.1218dup, XM_047435072.1:c.1218del, XM_047435072.1:c.1218dup, XM_047435064.1:c.1140del, XM_047435064.1:c.1140dup, XM_047435063.1:c.1140del, XM_047435063.1:c.1140dup, XM_047435065.1:c.1140del, XM_047435065.1:c.1140dup, XM_047435070.1:c.1140del, XM_047435070.1:c.1140dup, XM_047435081.1:c.1218del, XM_047435081.1:c.1218dup, XM_047435066.1:c.1140del, XM_047435066.1:c.1140dup, XM_047435071.1:c.1140del, XM_047435071.1:c.1140dup, XM_047435076.1:c.1140del, XM_047435076.1:c.1140dup, XM_047435075.1:c.1140del, XM_047435075.1:c.1140dup, XM_047435082.1:c.927del, XM_047435082.1:c.927dup, NP_055459.5:p.Glu243fs, NP_055459.5:p.Leu244fs, NP_001185763.3:p.Glu243fs, NP_001185763.3:p.Leu244fs, NP_001337450.1:p.Glu380fs, NP_001337450.1:p.Leu381fs, NP_001185761.2:p.Glu309fs, NP_001185761.2:p.Leu310fs, NP_001002812.2:p.Glu243fs, NP_001002812.2:p.Leu244fs, NP_001337451.1:p.Glu309fs, NP_001337451.1:p.Leu310fs, NP_001337452.1:p.Glu309fs, NP_001337452.1:p.Leu310fs, NP_001002811.2:p.Glu406fs, NP_001002811.2:p.Leu407fs, NP_001337449.1:p.Glu406fs, NP_001337449.1:p.Leu407fs, NP_001364321.1:p.Glu380fs, NP_001364321.1:p.Leu381fs, NP_001364322.1:p.Glu309fs, NP_001364322.1:p.Leu310fs, NP_001382226.1:p.Glu406fs, NP_001382226.1:p.Leu407fs, NP_001382244.1:p.Glu406fs, NP_001382244.1:p.Leu407fs, NP_001382230.1:p.Glu406fs, NP_001382230.1:p.Leu407fs, NP_001382228.1:p.Glu406fs, NP_001382228.1:p.Leu407fs, NP_001382355.1:p.Glu309fs, NP_001382355.1:p.Leu310fs, NP_001382227.1:p.Glu380fs, NP_001382227.1:p.Leu381fs, NP_001382229.1:p.Glu343fs, NP_001382229.1:p.Leu344fs, NP_001382246.1:p.Glu380fs, NP_001382246.1:p.Leu381fs, NP_001382249.1:p.Glu309fs, NP_001382249.1:p.Leu310fs, NP_001382234.1:p.Glu309fs, NP_001382234.1:p.Leu310fs, NP_001382238.1:p.Glu406fs, NP_001382238.1:p.Leu407fs, NP_001382233.1:p.Glu309fs, NP_001382233.1:p.Leu310fs, NP_001382250.1:p.Glu272fs, NP_001382250.1:p.Leu273fs, NP_001382232.1:p.Glu380fs, NP_001382232.1:p.Leu381fs, NP_001382235.1:p.Glu309fs, NP_001382235.1:p.Leu310fs, NP_001382231.1:p.Glu343fs, NP_001382231.1:p.Leu344fs, NP_001382239.1:p.Glu309fs, NP_001382239.1:p.Leu310fs, NP_001382237.1:p.Glu309fs, NP_001382237.1:p.Leu310fs, NP_001382241.1:p.Glu309fs, NP_001382241.1:p.Leu310fs, NP_001382242.1:p.Glu272fs, NP_001382242.1:p.Leu273fs, NP_001382236.1:p.Glu380fs, NP_001382236.1:p.Leu381fs, NP_001382240.1:p.Glu309fs, NP_001382240.1:p.Leu310fs, NP_001382243.1:p.Glu309fs, NP_001382243.1:p.Leu310fs, NP_001382252.1:p.Glu30fs, NP_001382252.1:p.Leu31fs, NP_001382253.1:p.Glu30fs, NP_001382253.1:p.Leu31fs, NP_001382248.1:p.Glu293fs, NP_001382248.1:p.Leu294fs, NP_001382245.1:p.Glu380fs, NP_001382245.1:p.Leu381fs, NP_001382247.1:p.Glu309fs, NP_001382247.1:p.Leu310fs, NP_001382251.1:p.Glu211fs, NP_001382251.1:p.Leu212fs, XP_005273038.2:p.Glu406fs, XP_005273038.2:p.Leu407fs, XP_011508478.1:p.Glu380fs, XP_011508478.1:p.Leu381fs, XP_016858370.1:p.Glu406fs, XP_016858370.1:p.Leu407fs, XP_016858371.1:p.Glu406fs, XP_016858371.1:p.Leu407fs, XP_016858373.1:p.Glu406fs, XP_016858373.1:p.Leu407fs, XP_016858368.1:p.Glu406fs, XP_016858368.1:p.Leu407fs, XP_016858372.1:p.Glu406fs, XP_016858372.1:p.Leu407fs, XP_016858374.1:p.Glu406fs, XP_016858374.1:p.Leu407fs, XP_016858375.1:p.Glu406fs, XP_016858375.1:p.Leu407fs, XP_016858385.1:p.Glu406fs, XP_016858385.1:p.Leu407fs, XP_016858386.1:p.Glu406fs, XP_016858386.1:p.Leu407fs, XP_016858379.1:p.Glu406fs, XP_016858379.1:p.Leu407fs, XP_016858390.1:p.Glu406fs, XP_016858390.1:p.Leu407fs, XP_016858389.1:p.Glu406fs, XP_016858389.1:p.Leu407fs, XP_024306836.1:p.Glu380fs, XP_024306836.1:p.Leu381fs, XP_047291029.1:p.Glu406fs, XP_047291029.1:p.Leu407fs, XP_047291030.1:p.Glu406fs, XP_047291030.1:p.Leu407fs, XP_047291028.1:p.Glu406fs, XP_047291028.1:p.Leu407fs, XP_047291020.1:p.Glu380fs, XP_047291020.1:p.Leu381fs, XP_047291019.1:p.Glu380fs, XP_047291019.1:p.Leu381fs, XP_047291021.1:p.Glu380fs, XP_047291021.1:p.Leu381fs, XP_047291026.1:p.Glu380fs, XP_047291026.1:p.Leu381fs, XP_047291037.1:p.Glu406fs, XP_047291037.1:p.Leu407fs, XP_047291022.1:p.Glu380fs, XP_047291022.1:p.Leu381fs, XP_047291027.1:p.Glu380fs, XP_047291027.1:p.Leu381fs, XP_047291032.1:p.Glu380fs, XP_047291032.1:p.Leu381fs, XP_047291031.1:p.Glu380fs, XP_047291031.1:p.Leu381fs, XP_047291038.1:p.Glu309fs, XP_047291038.1:p.Leu310fs

      3.

      rs41315684 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        1:148953402 (GRCh38)
        1:144931087 (GRCh37)
        Canonical SPDI:
        NC_000001.11:148953401:A:C,NC_000001.11:148953401:A:G
        Gene:
        PDE4DIP (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.2735/3701 (ALFA)
        C=0.059925/32 (MGP)
        C=0.110883/324 (KOREAN)
        C=0.157407/34 (Qatari)
        C=0.198754/2585 (GoESP)
        C=0.24557/29765 (ExAC)
        T=0.5/127 (SGDP_PRJ)
        T=0.5/13 (Siberian)
        HGVS:
        NC_000001.11:g.148953402A>C, NC_000001.11:g.148953402A>G, NW_003871055.3:g.5768815A>C, NW_003871055.3:g.5768815A>G, NG_027693.2:g.150227A>C, NG_027693.2:g.150227A>G, NM_001002811.3:c.622A>C, NM_001002811.3:c.622A>G, NM_001002811.2:c.622A>C, NM_001002811.2:c.622A>G, NM_001350520.2:c.622A>C, NM_001350520.2:c.622A>G, NM_001350520.1:c.622A>C, NM_001350520.1:c.622A>G, NM_001395297.1:c.622A>C, NM_001395297.1:c.622A>G, NM_001395315.1:c.622A>C, NM_001395315.1:c.622A>G, NM_001395301.1:c.622A>C, NM_001395301.1:c.622A>G, NM_001395299.1:c.622A>C, NM_001395299.1:c.622A>G, NM_001395309.1:c.622A>C, NM_001395309.1:c.622A>G, NC_000001.10:g.144931087T>G, NC_000001.10:g.144931087T>C, XM_005272981.4:c.622A>C, XM_005272981.4:c.622A>G, XM_005272981.3:c.622A>C, XM_005272981.3:c.622A>G, XM_005272981.2:c.622A>C, XM_005272981.2:c.622A>G, XM_005272981.1:c.622A>C, XM_005272981.1:c.622A>G, XM_017002881.2:c.622A>C, XM_017002881.2:c.622A>G, XM_017002881.1:c.622A>C, XM_017002881.1:c.622A>G, XM_017002882.2:c.622A>C, XM_017002882.2:c.622A>G, XM_017002882.1:c.622A>C, XM_017002882.1:c.622A>G, XM_017002884.2:c.622A>C, XM_017002884.2:c.622A>G, XM_017002884.1:c.622A>C, XM_017002884.1:c.622A>G, XM_017002879.2:c.622A>C, XM_017002879.2:c.622A>G, XM_017002879.1:c.622A>C, XM_017002879.1:c.622A>G, XM_017002883.2:c.622A>C, XM_017002883.2:c.622A>G, XM_017002883.1:c.622A>C, XM_017002883.1:c.622A>G, XM_017002885.2:c.622A>C, XM_017002885.2:c.622A>G, XM_017002885.1:c.622A>C, XM_017002885.1:c.622A>G, XM_017002886.2:c.622A>C, XM_017002886.2:c.622A>G, XM_017002886.1:c.622A>C, XM_017002886.1:c.622A>G, XM_017002896.2:c.622A>C, XM_017002896.2:c.622A>G, XM_017002896.1:c.622A>C, XM_017002896.1:c.622A>G, XM_017002897.2:c.622A>C, XM_017002897.2:c.622A>G, XM_017002897.1:c.622A>C, XM_017002897.1:c.622A>G, XM_017002890.2:c.622A>C, XM_017002890.2:c.622A>G, XM_017002890.1:c.622A>C, XM_017002890.1:c.622A>G, XM_017002901.2:c.622A>C, XM_017002901.2:c.622A>G, XM_017002901.1:c.622A>C, XM_017002901.1:c.622A>G, XM_017002900.2:c.622A>C, XM_017002900.2:c.622A>G, XM_017002900.1:c.622A>C, XM_017002900.1:c.622A>G, XM_047435073.1:c.622A>C, XM_047435073.1:c.622A>G, XM_047435074.1:c.622A>C, XM_047435074.1:c.622A>G, XM_047435072.1:c.622A>C, XM_047435072.1:c.622A>G, XM_047435081.1:c.622A>C, XM_047435081.1:c.622A>G, NP_001002811.2:p.Thr208Pro, NP_001002811.2:p.Thr208Ala, NP_001337449.1:p.Thr208Pro, NP_001337449.1:p.Thr208Ala, NP_001382226.1:p.Thr208Pro, NP_001382226.1:p.Thr208Ala, NP_001382244.1:p.Thr208Pro, NP_001382244.1:p.Thr208Ala, NP_001382230.1:p.Thr208Pro, NP_001382230.1:p.Thr208Ala, NP_001382228.1:p.Thr208Pro, NP_001382228.1:p.Thr208Ala, NP_001382238.1:p.Thr208Pro, NP_001382238.1:p.Thr208Ala, XP_005273038.2:p.Thr208Pro, XP_005273038.2:p.Thr208Ala, XP_016858370.1:p.Thr208Pro, XP_016858370.1:p.Thr208Ala, XP_016858371.1:p.Thr208Pro, XP_016858371.1:p.Thr208Ala, XP_016858373.1:p.Thr208Pro, XP_016858373.1:p.Thr208Ala, XP_016858368.1:p.Thr208Pro, XP_016858368.1:p.Thr208Ala, XP_016858372.1:p.Thr208Pro, XP_016858372.1:p.Thr208Ala, XP_016858374.1:p.Thr208Pro, XP_016858374.1:p.Thr208Ala, XP_016858375.1:p.Thr208Pro, XP_016858375.1:p.Thr208Ala, XP_016858385.1:p.Thr208Pro, XP_016858385.1:p.Thr208Ala, XP_016858386.1:p.Thr208Pro, XP_016858386.1:p.Thr208Ala, XP_016858379.1:p.Thr208Pro, XP_016858379.1:p.Thr208Ala, XP_016858390.1:p.Thr208Pro, XP_016858390.1:p.Thr208Ala, XP_016858389.1:p.Thr208Pro, XP_016858389.1:p.Thr208Ala, XP_047291029.1:p.Thr208Pro, XP_047291029.1:p.Thr208Ala, XP_047291030.1:p.Thr208Pro, XP_047291030.1:p.Thr208Ala, XP_047291028.1:p.Thr208Pro, XP_047291028.1:p.Thr208Ala, XP_047291037.1:p.Thr208Pro, XP_047291037.1:p.Thr208Ala

        4.

        rs41315685 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          1:148953028 (GRCh38)
          1:144931461 (GRCh37)
          Canonical SPDI:
          NC_000001.11:148953027:T:A
          Gene:
          PDE4DIP (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.289019/3911 (ALFA)
          A=0.050562/27 (MGP)
          A=0.189815/41 (Qatari)
          A=0.200548/586 (KOREAN)
          A=0.20406/2654 (GoESP)
          A=0.230191/3858 (TOMMO)
          A=0.267146/32407 (ExAC)
          A=0.5/153 (SGDP_PRJ)
          A=0.5/16 (Siberian)
          HGVS:
          NC_000001.11:g.148953028T>A, NW_003871055.3:g.5768441T>A, NG_027693.2:g.149853T>A, NM_001002811.3:c.248T>A, NM_001002811.2:c.248T>A, NM_001350520.2:c.248T>A, NM_001350520.1:c.248T>A, NM_001395297.1:c.248T>A, NM_001395315.1:c.248T>A, NM_001395301.1:c.248T>A, NM_001395299.1:c.248T>A, NM_001395309.1:c.248T>A, NC_000001.10:g.144931461A>T, XM_005272981.4:c.248T>A, XM_005272981.3:c.248T>A, XM_005272981.2:c.248T>A, XM_005272981.1:c.248T>A, XM_017002881.2:c.248T>A, XM_017002881.1:c.248T>A, XM_017002882.2:c.248T>A, XM_017002882.1:c.248T>A, XM_017002884.2:c.248T>A, XM_017002884.1:c.248T>A, XM_017002879.2:c.248T>A, XM_017002879.1:c.248T>A, XM_017002883.2:c.248T>A, XM_017002883.1:c.248T>A, XM_017002885.2:c.248T>A, XM_017002885.1:c.248T>A, XM_017002886.2:c.248T>A, XM_017002886.1:c.248T>A, XM_017002896.2:c.248T>A, XM_017002896.1:c.248T>A, XM_017002897.2:c.248T>A, XM_017002897.1:c.248T>A, XM_017002890.2:c.248T>A, XM_017002890.1:c.248T>A, XM_017002901.2:c.248T>A, XM_017002901.1:c.248T>A, XM_017002900.2:c.248T>A, XM_017002900.1:c.248T>A, XM_047435073.1:c.248T>A, XM_047435074.1:c.248T>A, XM_047435072.1:c.248T>A, XM_047435081.1:c.248T>A, NP_001002811.2:p.Leu83Gln, NP_001337449.1:p.Leu83Gln, NP_001382226.1:p.Leu83Gln, NP_001382244.1:p.Leu83Gln, NP_001382230.1:p.Leu83Gln, NP_001382228.1:p.Leu83Gln, NP_001382238.1:p.Leu83Gln, XP_005273038.2:p.Leu83Gln, XP_016858370.1:p.Leu83Gln, XP_016858371.1:p.Leu83Gln, XP_016858373.1:p.Leu83Gln, XP_016858368.1:p.Leu83Gln, XP_016858372.1:p.Leu83Gln, XP_016858374.1:p.Leu83Gln, XP_016858375.1:p.Leu83Gln, XP_016858385.1:p.Leu83Gln, XP_016858386.1:p.Leu83Gln, XP_016858379.1:p.Leu83Gln, XP_016858390.1:p.Leu83Gln, XP_016858389.1:p.Leu83Gln, XP_047291029.1:p.Leu83Gln, XP_047291030.1:p.Leu83Gln, XP_047291028.1:p.Leu83Gln, XP_047291037.1:p.Leu83Gln

          5.

          rs71664015 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            1:148962551 (GRCh38)
            1:144921924 (GRCh37)
            Canonical SPDI:
            NC_000001.11:148962550:C:G,NC_000001.11:148962550:C:T
            Gene:
            PDE4DIP (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.110067/3409 (ALFA)
            A=0.029963/16 (MGP)
            A=0.125/27 (Qatari)
            A=0.125712/1634 (GoESP)
            A=0.187395/45152 (GnomAD_exomes)
            A=0.195027/23677 (ExAC)
            A=0.417065/1222 (KOREAN)
            A=0.429415/7197 (TOMMO)
            G=0.5/127 (SGDP_PRJ)
            G=0.5/19 (Siberian)
            HGVS:
            NC_000001.11:g.148962551C>G, NC_000001.11:g.148962551C>T, NW_003871055.3:g.5777964C>G, NW_003871055.3:g.5777964C>T, NG_027693.2:g.159376C>G, NG_027693.2:g.159376C>T, NM_014644.7:c.1105C>G, NM_014644.7:c.1105C>T, NM_014644.6:c.1105C>G, NM_014644.6:c.1105C>T, NM_014644.5:c.1105C>G, NM_014644.5:c.1105C>T, NM_001198834.5:c.1105C>G, NM_001198834.5:c.1105C>T, NM_001198834.4:c.1105C>G, NM_001198834.4:c.1105C>T, NM_001198834.3:c.1105C>G, NM_001198834.3:c.1105C>T, NM_001350521.4:c.1516C>G, NM_001350521.4:c.1516C>T, NM_001350521.3:c.1516C>G, NM_001350521.3:c.1516C>T, NM_001350521.2:c.1516C>G, NM_001350521.2:c.1516C>T, NM_001350521.1:c.1516C>G, NM_001350521.1:c.1516C>T, NM_001198832.4:c.1303C>G, NM_001198832.4:c.1303C>T, NM_001198832.3:c.1303C>G, NM_001198832.3:c.1303C>T, NM_001198832.2:c.1303C>G, NM_001198832.2:c.1303C>T, NM_001002812.4:c.1105C>G, NM_001002812.4:c.1105C>T, NM_001002812.3:c.1105C>G, NM_001002812.3:c.1105C>T, NM_001002812.2:c.1105C>G, NM_001002812.2:c.1105C>T, NM_001350522.3:c.1303C>G, NM_001350522.3:c.1303C>T, NM_001350522.2:c.1303C>G, NM_001350522.2:c.1303C>T, NM_001350522.1:c.1303C>G, NM_001350522.1:c.1303C>T, NM_001350523.3:c.1303C>G, NM_001350523.3:c.1303C>T, NM_001350523.2:c.1303C>G, NM_001350523.2:c.1303C>T, NM_001350523.1:c.1303C>G, NM_001350523.1:c.1303C>T, NM_001002811.3:c.1594C>G, NM_001002811.3:c.1594C>T, NM_001002811.2:c.1594C>G, NM_001002811.2:c.1594C>T, NM_001350520.2:c.1594C>G, NM_001350520.2:c.1594C>T, NM_001350520.1:c.1594C>G, NM_001350520.1:c.1594C>T, NM_001377392.2:c.1516C>G, NM_001377392.2:c.1516C>T, NM_001377392.1:c.1516C>G, NM_001377392.1:c.1516C>T, NM_001377393.2:c.1303C>G, NM_001377393.2:c.1303C>T, NM_001377393.1:c.1303C>G, NM_001377393.1:c.1303C>T, NM_001395297.1:c.1594C>G, NM_001395297.1:c.1594C>T, NM_001395315.1:c.1594C>G, NM_001395315.1:c.1594C>T, NM_001395301.1:c.1594C>G, NM_001395301.1:c.1594C>T, NM_001395299.1:c.1594C>G, NM_001395299.1:c.1594C>T, NM_001395426.1:c.1303C>G, NM_001395426.1:c.1303C>T, NM_001395298.1:c.1516C>G, NM_001395298.1:c.1516C>T, NM_001395300.1:c.1405C>G, NM_001395300.1:c.1405C>T, NM_001395317.1:c.1516C>G, NM_001395317.1:c.1516C>T, NM_001395320.1:c.1303C>G, NM_001395320.1:c.1303C>T, NM_001395305.1:c.1303C>G, NM_001395305.1:c.1303C>T, NM_001395309.1:c.1594C>G, NM_001395309.1:c.1594C>T, NM_001395304.1:c.1303C>G, NM_001395304.1:c.1303C>T, NM_001395321.1:c.1192C>G, NM_001395321.1:c.1192C>T, NM_001395303.1:c.1516C>G, NM_001395303.1:c.1516C>T, NM_001395306.1:c.1303C>G, NM_001395306.1:c.1303C>T, NM_001395302.1:c.1405C>G, NM_001395302.1:c.1405C>T, NM_001395310.1:c.1303C>G, NM_001395310.1:c.1303C>T, NM_001395308.1:c.1303C>G, NM_001395308.1:c.1303C>T, NM_001395312.1:c.1303C>G, NM_001395312.1:c.1303C>T, NM_001395313.1:c.1192C>G, NM_001395313.1:c.1192C>T, NM_001395307.1:c.1516C>G, NM_001395307.1:c.1516C>T, NM_001395311.1:c.1303C>G, NM_001395311.1:c.1303C>T, NM_001395314.1:c.1303C>G, NM_001395314.1:c.1303C>T, NM_001395323.1:c.466C>G, NM_001395323.1:c.466C>T, NM_001395324.1:c.466C>G, NM_001395324.1:c.466C>T, NM_001395319.1:c.1255C>G, NM_001395319.1:c.1255C>T, NM_001395316.1:c.1516C>G, NM_001395316.1:c.1516C>T, NM_001395318.1:c.1303C>G, NM_001395318.1:c.1303C>T, NM_001395322.1:c.1009C>G, NM_001395322.1:c.1009C>T, NC_000001.10:g.144921924G>C, NC_000001.10:g.144921924G>A, XM_005272981.4:c.1594C>G, XM_005272981.4:c.1594C>T, XM_005272981.3:c.1594C>G, XM_005272981.3:c.1594C>T, XM_005272981.2:c.1594C>G, XM_005272981.2:c.1594C>T, XM_005272981.1:c.1594C>G, XM_005272981.1:c.1594C>T, XM_011510176.3:c.1516C>G, XM_011510176.3:c.1516C>T, XM_011510176.2:c.1516C>G, XM_011510176.2:c.1516C>T, XM_011510176.1:c.1516C>G, XM_011510176.1:c.1516C>T, XM_017002881.2:c.1594C>G, XM_017002881.2:c.1594C>T, XM_017002881.1:c.1594C>G, XM_017002881.1:c.1594C>T, XM_017002882.2:c.1594C>G, XM_017002882.2:c.1594C>T, XM_017002882.1:c.1594C>G, XM_017002882.1:c.1594C>T, XM_017002884.2:c.1594C>G, XM_017002884.2:c.1594C>T, XM_017002884.1:c.1594C>G, XM_017002884.1:c.1594C>T, XM_017002879.2:c.1594C>G, XM_017002879.2:c.1594C>T, XM_017002879.1:c.1594C>G, XM_017002879.1:c.1594C>T, XM_017002883.2:c.1594C>G, XM_017002883.2:c.1594C>T, XM_017002883.1:c.1594C>G, XM_017002883.1:c.1594C>T, XM_017002885.2:c.1594C>G, XM_017002885.2:c.1594C>T, XM_017002885.1:c.1594C>G, XM_017002885.1:c.1594C>T, XM_017002886.2:c.1594C>G, XM_017002886.2:c.1594C>T, XM_017002886.1:c.1594C>G, XM_017002886.1:c.1594C>T, XM_017002896.2:c.1594C>G, XM_017002896.2:c.1594C>T, XM_017002896.1:c.1594C>G, XM_017002896.1:c.1594C>T, XM_017002897.2:c.1594C>G, XM_017002897.2:c.1594C>T, XM_017002897.1:c.1594C>G, XM_017002897.1:c.1594C>T, XM_017002890.2:c.1594C>G, XM_017002890.2:c.1594C>T, XM_017002890.1:c.1594C>G, XM_017002890.1:c.1594C>T, XM_017002901.2:c.1594C>G, XM_017002901.2:c.1594C>T, XM_017002901.1:c.1594C>G, XM_017002901.1:c.1594C>T, XM_017002900.2:c.1594C>G, XM_017002900.2:c.1594C>T, XM_017002900.1:c.1594C>G, XM_017002900.1:c.1594C>T, XM_024451068.2:c.1516C>G, XM_024451068.2:c.1516C>T, XM_024451068.1:c.1516C>G, XM_024451068.1:c.1516C>T, XM_047435073.1:c.1594C>G, XM_047435073.1:c.1594C>T, XM_047435074.1:c.1594C>G, XM_047435074.1:c.1594C>T, XM_047435072.1:c.1594C>G, XM_047435072.1:c.1594C>T, XM_047435064.1:c.1516C>G, XM_047435064.1:c.1516C>T, XM_047435063.1:c.1516C>G, XM_047435063.1:c.1516C>T, XM_047435065.1:c.1516C>G, XM_047435065.1:c.1516C>T, XM_047435070.1:c.1516C>G, XM_047435070.1:c.1516C>T, XM_047435081.1:c.1594C>G, XM_047435081.1:c.1594C>T, XM_047435066.1:c.1516C>G, XM_047435066.1:c.1516C>T, XM_047435071.1:c.1516C>G, XM_047435071.1:c.1516C>T, XM_047435076.1:c.1516C>G, XM_047435076.1:c.1516C>T, XM_047435075.1:c.1516C>G, XM_047435075.1:c.1516C>T, XM_047435082.1:c.1303C>G, XM_047435082.1:c.1303C>T, NP_055459.5:p.Leu369Val, NP_001185763.3:p.Leu369Val, NP_001337450.1:p.Leu506Val, NP_001185761.2:p.Leu435Val, NP_001002812.2:p.Leu369Val, NP_001337451.1:p.Leu435Val, NP_001337452.1:p.Leu435Val, NP_001002811.2:p.Leu532Val, NP_001337449.1:p.Leu532Val, NP_001364321.1:p.Leu506Val, NP_001364322.1:p.Leu435Val, NP_001382226.1:p.Leu532Val, NP_001382244.1:p.Leu532Val, NP_001382230.1:p.Leu532Val, NP_001382228.1:p.Leu532Val, NP_001382355.1:p.Leu435Val, NP_001382227.1:p.Leu506Val, NP_001382229.1:p.Leu469Val, NP_001382246.1:p.Leu506Val, NP_001382249.1:p.Leu435Val, NP_001382234.1:p.Leu435Val, NP_001382238.1:p.Leu532Val, NP_001382233.1:p.Leu435Val, NP_001382250.1:p.Leu398Val, NP_001382232.1:p.Leu506Val, NP_001382235.1:p.Leu435Val, NP_001382231.1:p.Leu469Val, NP_001382239.1:p.Leu435Val, NP_001382237.1:p.Leu435Val, NP_001382241.1:p.Leu435Val, NP_001382242.1:p.Leu398Val, NP_001382236.1:p.Leu506Val, NP_001382240.1:p.Leu435Val, NP_001382243.1:p.Leu435Val, NP_001382252.1:p.Leu156Val, NP_001382253.1:p.Leu156Val, NP_001382248.1:p.Leu419Val, NP_001382245.1:p.Leu506Val, NP_001382247.1:p.Leu435Val, NP_001382251.1:p.Leu337Val, XP_005273038.2:p.Leu532Val, XP_011508478.1:p.Leu506Val, XP_016858370.1:p.Leu532Val, XP_016858371.1:p.Leu532Val, XP_016858373.1:p.Leu532Val, XP_016858368.1:p.Leu532Val, XP_016858372.1:p.Leu532Val, XP_016858374.1:p.Leu532Val, XP_016858375.1:p.Leu532Val, XP_016858385.1:p.Leu532Val, XP_016858386.1:p.Leu532Val, XP_016858379.1:p.Leu532Val, XP_016858390.1:p.Leu532Val, XP_016858389.1:p.Leu532Val, XP_024306836.1:p.Leu506Val, XP_047291029.1:p.Leu532Val, XP_047291030.1:p.Leu532Val, XP_047291028.1:p.Leu532Val, XP_047291020.1:p.Leu506Val, XP_047291019.1:p.Leu506Val, XP_047291021.1:p.Leu506Val, XP_047291026.1:p.Leu506Val, XP_047291037.1:p.Leu532Val, XP_047291022.1:p.Leu506Val, XP_047291027.1:p.Leu506Val, XP_047291032.1:p.Leu506Val, XP_047291031.1:p.Leu506Val, XP_047291038.1:p.Leu435Val

            6.

            rs139494606 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:149017784 (GRCh38)
              1:144866687 (GRCh37)
              Canonical SPDI:
              NC_000001.11:149017783:G:A
              Gene:
              PDE4DIP (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.00043/21 (ALFA)
              A=0.000043/6 (GnomAD)
              T=0.000119/2 (TOMMO)
              T=0.000231/3 (GoESP)
              T=0.000263/66 (GnomAD_exomes)
              T=0.000527/64 (ExAC)
              T=0.000998/5 (1000Genomes)
              HGVS:
              NC_000001.11:g.149017784G>A, NW_003871055.3:g.5833197G>A, NG_027693.2:g.214609G>A, NM_014644.7:c.5555G>A, NM_014644.6:c.5555G>A, NM_014644.5:c.5555G>A, NM_001198834.5:c.5555G>A, NM_001198834.4:c.5555G>A, NM_001198834.3:c.5555G>A, NM_001350521.4:c.5966G>A, NM_001350521.3:c.5966G>A, NM_001350521.2:c.5966G>A, NM_001350521.1:c.5966G>A, NM_001198832.4:c.5237G>A, NM_001198832.3:c.5237G>A, NM_001198832.2:c.5237G>A, NM_001350522.3:c.5753G>A, NM_001350522.2:c.5753G>A, NM_001350522.1:c.5753G>A, NM_001350523.3:c.5234G>A, NM_001350523.2:c.5234G>A, NM_001350523.1:c.5234G>A, NM_001350520.2:c.6041G>A, NM_001350520.1:c.6041G>A, NM_001377392.2:c.5966G>A, NM_001377392.1:c.5966G>A, NM_001377393.2:c.5423G>A, NM_001377393.1:c.5423G>A, NM_001395297.1:c.6044G>A, NM_001395301.1:c.6041G>A, NM_001395299.1:c.5855G>A, NM_001395426.1:c.5753G>A, NM_001395298.1:c.5963G>A, NM_001395300.1:c.5855G>A, NM_001395305.1:c.5567G>A, NM_001395309.1:c.5372G>A, NM_001395304.1:c.5567G>A, NM_001395303.1:c.5633G>A, NM_001395306.1:c.5423G>A, NM_001395302.1:c.5855G>A, NM_001395310.1:c.5567G>A, NM_001395308.1:c.5564G>A, NM_001395312.1:c.5234G>A, NM_001395313.1:c.5456G>A, NM_001395307.1:c.5633G>A, NM_001395311.1:c.5237G>A, NM_001395314.1:c.5234G>A, NC_000001.10:g.144866687C>T, XM_005272981.4:c.6044G>A, XM_005272981.3:c.6044G>A, XM_005272981.2:c.6044G>A, XM_005272981.1:c.6044G>A, XM_011510176.3:c.5450G>A, XM_011510176.2:c.5450G>A, XM_011510176.1:c.5450G>A, XM_017002881.2:c.5858G>A, XM_017002881.1:c.5858G>A, XM_017002882.2:c.5855G>A, XM_017002882.1:c.5855G>A, XM_017002884.2:c.6044G>A, XM_017002884.1:c.6044G>A, XM_017002879.2:c.5858G>A, XM_017002879.1:c.5858G>A, XM_017002883.2:c.6044G>A, XM_017002883.1:c.6044G>A, XM_017002885.2:c.5714G>A, XM_017002885.1:c.5714G>A, XM_017002886.2:c.5711G>A, XM_017002886.1:c.5711G>A, XM_017002896.2:c.5858G>A, XM_017002896.1:c.5858G>A, XM_017002897.2:c.5855G>A, XM_017002897.1:c.5855G>A, XM_017002890.2:c.5858G>A, XM_017002890.1:c.5858G>A, XM_017002901.2:c.5528G>A, XM_017002901.1:c.5528G>A, XM_017002900.2:c.5528G>A, XM_017002900.1:c.5528G>A, XM_024451068.2:c.5447G>A, XM_024451068.1:c.5447G>A, XM_047435073.1:c.5528G>A, XM_047435074.1:c.5525G>A, XM_047435072.1:c.5528G>A, XM_047435064.1:c.5780G>A, XM_047435063.1:c.5780G>A, XM_047435065.1:c.5966G>A, XM_047435070.1:c.5636G>A, XM_047435081.1:c.5525G>A, XM_047435066.1:c.5636G>A, XM_047435071.1:c.5777G>A, XM_047435076.1:c.5447G>A, XM_047435075.1:c.5450G>A, XM_047435082.1:c.5237G>A, NP_055459.5:p.Arg1852Gln, NP_001185763.3:p.Arg1852Gln, NP_001337450.1:p.Arg1989Gln, NP_001185761.2:p.Arg1746Gln, NP_001337451.1:p.Arg1918Gln, NP_001337452.1:p.Arg1745Gln, NP_001337449.1:p.Arg2014Gln, NP_001364321.1:p.Arg1989Gln, NP_001364322.1:p.Arg1808Gln, NP_001382226.1:p.Arg2015Gln, NP_001382230.1:p.Arg2014Gln, NP_001382228.1:p.Arg1952Gln, NP_001382355.1:p.Arg1918Gln, NP_001382227.1:p.Arg1988Gln, NP_001382229.1:p.Arg1952Gln, NP_001382234.1:p.Arg1856Gln, NP_001382238.1:p.Arg1791Gln, NP_001382233.1:p.Arg1856Gln, NP_001382232.1:p.Arg1878Gln, NP_001382235.1:p.Arg1808Gln, NP_001382231.1:p.Arg1952Gln, NP_001382239.1:p.Arg1856Gln, NP_001382237.1:p.Arg1855Gln, NP_001382241.1:p.Arg1745Gln, NP_001382242.1:p.Arg1819Gln, NP_001382236.1:p.Arg1878Gln, NP_001382240.1:p.Arg1746Gln, NP_001382243.1:p.Arg1745Gln, XP_005273038.2:p.Arg2015Gln, XP_011508478.1:p.Arg1817Gln, XP_016858370.1:p.Arg1953Gln, XP_016858371.1:p.Arg1952Gln, XP_016858373.1:p.Arg2015Gln, XP_016858368.1:p.Arg1953Gln, XP_016858372.1:p.Arg2015Gln, XP_016858374.1:p.Arg1905Gln, XP_016858375.1:p.Arg1904Gln, XP_016858385.1:p.Arg1953Gln, XP_016858386.1:p.Arg1952Gln, XP_016858379.1:p.Arg1953Gln, XP_016858390.1:p.Arg1843Gln, XP_016858389.1:p.Arg1843Gln, XP_024306836.1:p.Arg1816Gln, XP_047291029.1:p.Arg1843Gln, XP_047291030.1:p.Arg1842Gln, XP_047291028.1:p.Arg1843Gln, XP_047291020.1:p.Arg1927Gln, XP_047291019.1:p.Arg1927Gln, XP_047291021.1:p.Arg1989Gln, XP_047291026.1:p.Arg1879Gln, XP_047291037.1:p.Arg1842Gln, XP_047291022.1:p.Arg1879Gln, XP_047291027.1:p.Arg1926Gln, XP_047291032.1:p.Arg1816Gln, XP_047291031.1:p.Arg1817Gln, XP_047291038.1:p.Arg1746Gln

              7.

              rs141315681 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:149002952 (GRCh38)
                1:144881520 (GRCh37)
                Canonical SPDI:
                NC_000001.11:149002951:C:T
                Gene:
                PDE4DIP (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Clinical significance:
                likely-pathogenic
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.00017/8 (ALFA)
                T=0.000019/5 (TOPMED)
                A=0.000119/2 (TOMMO)
                A=0.000155/39 (GnomAD_exomes)
                T=0.000177/23 (GnomAD)
                A=0.000231/28 (ExAC)
                A=0.000342/1 (KOREAN)
                A=0.000399/2 (1000Genomes)
                A=0.000462/6 (GoESP)
                HGVS:
                NC_000001.11:g.149002952C>T, NW_003871055.3:g.5818365C>T, NG_027693.2:g.199777C>T, NM_014644.7:c.3676C>T, NM_014644.6:c.3676C>T, NM_014644.5:c.3676C>T, NM_001198834.5:c.3676C>T, NM_001198834.4:c.3676C>T, NM_001198834.3:c.3676C>T, NM_001350521.4:c.4087C>T, NM_001350521.3:c.4087C>T, NM_001350521.2:c.4087C>T, NM_001350521.1:c.4087C>T, NM_001198832.4:c.3544C>T, NM_001198832.3:c.3544C>T, NM_001198832.2:c.3544C>T, NM_001350522.3:c.3874C>T, NM_001350522.2:c.3874C>T, NM_001350522.1:c.3874C>T, NM_001350523.3:c.3544C>T, NM_001350523.2:c.3544C>T, NM_001350523.1:c.3544C>T, NM_001350520.2:c.4165C>T, NM_001350520.1:c.4165C>T, NM_001377392.2:c.4087C>T, NM_001377392.1:c.4087C>T, NM_001377393.2:c.3544C>T, NM_001377393.1:c.3544C>T, NM_001395297.1:c.4165C>T, NM_001395301.1:c.4165C>T, NM_001395299.1:c.4165C>T, NM_001395426.1:c.3874C>T, NM_001395298.1:c.4087C>T, NM_001395300.1:c.3976C>T, NM_001395305.1:c.3874C>T, NM_001395309.1:c.3835C>T, NM_001395304.1:c.3874C>T, NM_001395303.1:c.3757C>T, NM_001395306.1:c.3544C>T, NM_001395302.1:c.3976C>T, NM_001395310.1:c.3874C>T, NM_001395308.1:c.3874C>T, NM_001395312.1:c.3544C>T, NM_001395313.1:c.3763C>T, NM_001395307.1:c.3757C>T, NM_001395311.1:c.3544C>T, NM_001395314.1:c.3544C>T, NC_000001.10:g.144881520G>A, XM_005272981.4:c.4165C>T, XM_005272981.3:c.4165C>T, XM_005272981.2:c.4165C>T, XM_005272981.1:c.4165C>T, XM_011510176.3:c.3757C>T, XM_011510176.2:c.3757C>T, XM_011510176.1:c.3757C>T, XM_017002881.2:c.4165C>T, XM_017002881.1:c.4165C>T, XM_017002882.2:c.4165C>T, XM_017002882.1:c.4165C>T, XM_017002884.2:c.4165C>T, XM_017002884.1:c.4165C>T, XM_017002879.2:c.4165C>T, XM_017002879.1:c.4165C>T, XM_017002883.2:c.4165C>T, XM_017002883.1:c.4165C>T, XM_017002885.2:c.3835C>T, XM_017002885.1:c.3835C>T, XM_017002886.2:c.3835C>T, XM_017002886.1:c.3835C>T, XM_017002896.2:c.4165C>T, XM_017002896.1:c.4165C>T, XM_017002897.2:c.4165C>T, XM_017002897.1:c.4165C>T, XM_017002890.2:c.4165C>T, XM_017002890.1:c.4165C>T, XM_017002901.2:c.3835C>T, XM_017002901.1:c.3835C>T, XM_017002900.2:c.3835C>T, XM_017002900.1:c.3835C>T, XM_024451068.2:c.3757C>T, XM_024451068.1:c.3757C>T, XM_047435073.1:c.3835C>T, XM_047435074.1:c.3835C>T, XM_047435072.1:c.3835C>T, XM_047435064.1:c.4087C>T, XM_047435063.1:c.4087C>T, XM_047435065.1:c.4087C>T, XM_047435070.1:c.3757C>T, XM_047435081.1:c.3835C>T, XM_047435066.1:c.3757C>T, XM_047435071.1:c.4087C>T, XM_047435076.1:c.3757C>T, XM_047435075.1:c.3757C>T, XM_047435082.1:c.3544C>T, NP_055459.5:p.Arg1226Cys, NP_001185763.3:p.Arg1226Cys, NP_001337450.1:p.Arg1363Cys, NP_001185761.2:p.Arg1182Cys, NP_001337451.1:p.Arg1292Cys, NP_001337452.1:p.Arg1182Cys, NP_001337449.1:p.Arg1389Cys, NP_001364321.1:p.Arg1363Cys, NP_001364322.1:p.Arg1182Cys, NP_001382226.1:p.Arg1389Cys, NP_001382230.1:p.Arg1389Cys, NP_001382228.1:p.Arg1389Cys, NP_001382355.1:p.Arg1292Cys, NP_001382227.1:p.Arg1363Cys, NP_001382229.1:p.Arg1326Cys, NP_001382234.1:p.Arg1292Cys, NP_001382238.1:p.Arg1279Cys, NP_001382233.1:p.Arg1292Cys, NP_001382232.1:p.Arg1253Cys, NP_001382235.1:p.Arg1182Cys, NP_001382231.1:p.Arg1326Cys, NP_001382239.1:p.Arg1292Cys, NP_001382237.1:p.Arg1292Cys, NP_001382241.1:p.Arg1182Cys, NP_001382242.1:p.Arg1255Cys, NP_001382236.1:p.Arg1253Cys, NP_001382240.1:p.Arg1182Cys, NP_001382243.1:p.Arg1182Cys, XP_005273038.2:p.Arg1389Cys, XP_011508478.1:p.Arg1253Cys, XP_016858370.1:p.Arg1389Cys, XP_016858371.1:p.Arg1389Cys, XP_016858373.1:p.Arg1389Cys, XP_016858368.1:p.Arg1389Cys, XP_016858372.1:p.Arg1389Cys, XP_016858374.1:p.Arg1279Cys, XP_016858375.1:p.Arg1279Cys, XP_016858385.1:p.Arg1389Cys, XP_016858386.1:p.Arg1389Cys, XP_016858379.1:p.Arg1389Cys, XP_016858390.1:p.Arg1279Cys, XP_016858389.1:p.Arg1279Cys, XP_024306836.1:p.Arg1253Cys, XP_047291029.1:p.Arg1279Cys, XP_047291030.1:p.Arg1279Cys, XP_047291028.1:p.Arg1279Cys, XP_047291020.1:p.Arg1363Cys, XP_047291019.1:p.Arg1363Cys, XP_047291021.1:p.Arg1363Cys, XP_047291026.1:p.Arg1253Cys, XP_047291037.1:p.Arg1279Cys, XP_047291022.1:p.Arg1253Cys, XP_047291027.1:p.Arg1363Cys, XP_047291032.1:p.Arg1253Cys, XP_047291031.1:p.Arg1253Cys, XP_047291038.1:p.Arg1182Cys

                8.

                rs148523430 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  1:149007217 (GRCh38)
                  1:144877255 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:149007216:A:G,NC_000001.11:149007216:A:T
                  Gene:
                  PDE4DIP (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Clinical significance:
                  likely-pathogenic
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000582/24 (ALFA)
                  C=0.000308/4 (GoESP)
                  C=0.000399/2 (1000Genomes)
                  C=0.000471/57 (ExAC)
                  HGVS:
                  NC_000001.11:g.149007217A>G, NC_000001.11:g.149007217A>T, NW_003871055.3:g.5822630A>G, NW_003871055.3:g.5822630A>T, NG_027693.2:g.204042A>G, NG_027693.2:g.204042A>T, NM_014644.7:c.4432A>G, NM_014644.7:c.4432A>T, NM_014644.6:c.4432A>G, NM_014644.6:c.4432A>T, NM_014644.5:c.4432A>G, NM_014644.5:c.4432A>T, NM_001198834.5:c.4432A>G, NM_001198834.5:c.4432A>T, NM_001198834.4:c.4432A>G, NM_001198834.4:c.4432A>T, NM_001198834.3:c.4432A>G, NM_001198834.3:c.4432A>T, NM_001350521.4:c.4843A>G, NM_001350521.4:c.4843A>T, NM_001350521.3:c.4843A>G, NM_001350521.3:c.4843A>T, NM_001350521.2:c.4843A>G, NM_001350521.2:c.4843A>T, NM_001350521.1:c.4843A>G, NM_001350521.1:c.4843A>T, NM_001198832.4:c.4300A>G, NM_001198832.4:c.4300A>T, NM_001198832.3:c.4300A>G, NM_001198832.3:c.4300A>T, NM_001198832.2:c.4300A>G, NM_001198832.2:c.4300A>T, NM_001350522.3:c.4630A>G, NM_001350522.3:c.4630A>T, NM_001350522.2:c.4630A>G, NM_001350522.2:c.4630A>T, NM_001350522.1:c.4630A>G, NM_001350522.1:c.4630A>T, NM_001350523.3:c.4297A>G, NM_001350523.3:c.4297A>T, NM_001350523.2:c.4297A>G, NM_001350523.2:c.4297A>T, NM_001350523.1:c.4297A>G, NM_001350523.1:c.4297A>T, NM_001350520.2:c.4918A>G, NM_001350520.2:c.4918A>T, NM_001350520.1:c.4918A>G, NM_001350520.1:c.4918A>T, NM_001377392.2:c.4843A>G, NM_001377392.2:c.4843A>T, NM_001377392.1:c.4843A>G, NM_001377392.1:c.4843A>T, NM_001377393.2:c.4300A>G, NM_001377393.2:c.4300A>T, NM_001377393.1:c.4300A>G, NM_001377393.1:c.4300A>T, NM_001395297.1:c.4921A>G, NM_001395297.1:c.4921A>T, NM_001395301.1:c.4918A>G, NM_001395301.1:c.4918A>T, NM_001395299.1:c.4918A>G, NM_001395299.1:c.4918A>T, NM_001395426.1:c.4630A>G, NM_001395426.1:c.4630A>T, NM_001395298.1:c.4840A>G, NM_001395298.1:c.4840A>T, NM_001395300.1:c.4732A>G, NM_001395300.1:c.4732A>T, NM_001395305.1:c.4630A>G, NM_001395305.1:c.4630A>T, NM_001395309.1:c.4588A>G, NM_001395309.1:c.4588A>T, NM_001395304.1:c.4630A>G, NM_001395304.1:c.4630A>T, NM_001395303.1:c.4510A>G, NM_001395303.1:c.4510A>T, NM_001395306.1:c.4300A>G, NM_001395306.1:c.4300A>T, NM_001395302.1:c.4732A>G, NM_001395302.1:c.4732A>T, NM_001395310.1:c.4630A>G, NM_001395310.1:c.4630A>T, NM_001395308.1:c.4627A>G, NM_001395308.1:c.4627A>T, NM_001395312.1:c.4297A>G, NM_001395312.1:c.4297A>T, NM_001395313.1:c.4519A>G, NM_001395313.1:c.4519A>T, NM_001395307.1:c.4510A>G, NM_001395307.1:c.4510A>T, NM_001395311.1:c.4300A>G, NM_001395311.1:c.4300A>T, NM_001395314.1:c.4297A>G, NM_001395314.1:c.4297A>T, NC_000001.10:g.144877255T>C, NC_000001.10:g.144877255T>A, XM_005272981.4:c.4921A>G, XM_005272981.4:c.4921A>T, XM_005272981.3:c.4921A>G, XM_005272981.3:c.4921A>T, XM_005272981.2:c.4921A>G, XM_005272981.2:c.4921A>T, XM_005272981.1:c.4921A>G, XM_005272981.1:c.4921A>T, XM_011510176.3:c.4513A>G, XM_011510176.3:c.4513A>T, XM_011510176.2:c.4513A>G, XM_011510176.2:c.4513A>T, XM_011510176.1:c.4513A>G, XM_011510176.1:c.4513A>T, XM_017002881.2:c.4921A>G, XM_017002881.2:c.4921A>T, XM_017002881.1:c.4921A>G, XM_017002881.1:c.4921A>T, XM_017002882.2:c.4918A>G, XM_017002882.2:c.4918A>T, XM_017002882.1:c.4918A>G, XM_017002882.1:c.4918A>T, XM_017002884.2:c.4921A>G, XM_017002884.2:c.4921A>T, XM_017002884.1:c.4921A>G, XM_017002884.1:c.4921A>T, XM_017002879.2:c.4921A>G, XM_017002879.2:c.4921A>T, XM_017002879.1:c.4921A>G, XM_017002879.1:c.4921A>T, XM_017002883.2:c.4921A>G, XM_017002883.2:c.4921A>T, XM_017002883.1:c.4921A>G, XM_017002883.1:c.4921A>T, XM_017002885.2:c.4591A>G, XM_017002885.2:c.4591A>T, XM_017002885.1:c.4591A>G, XM_017002885.1:c.4591A>T, XM_017002886.2:c.4588A>G, XM_017002886.2:c.4588A>T, XM_017002886.1:c.4588A>G, XM_017002886.1:c.4588A>T, XM_017002896.2:c.4921A>G, XM_017002896.2:c.4921A>T, XM_017002896.1:c.4921A>G, XM_017002896.1:c.4921A>T, XM_017002897.2:c.4918A>G, XM_017002897.2:c.4918A>T, XM_017002897.1:c.4918A>G, XM_017002897.1:c.4918A>T, XM_017002890.2:c.4921A>G, XM_017002890.2:c.4921A>T, XM_017002890.1:c.4921A>G, XM_017002890.1:c.4921A>T, XM_017002901.2:c.4591A>G, XM_017002901.2:c.4591A>T, XM_017002901.1:c.4591A>G, XM_017002901.1:c.4591A>T, XM_017002900.2:c.4591A>G, XM_017002900.2:c.4591A>T, XM_017002900.1:c.4591A>G, XM_017002900.1:c.4591A>T, XM_024451068.2:c.4510A>G, XM_024451068.2:c.4510A>T, XM_024451068.1:c.4510A>G, XM_024451068.1:c.4510A>T, XM_047435073.1:c.4591A>G, XM_047435073.1:c.4591A>T, XM_047435074.1:c.4588A>G, XM_047435074.1:c.4588A>T, XM_047435072.1:c.4591A>G, XM_047435072.1:c.4591A>T, XM_047435064.1:c.4843A>G, XM_047435064.1:c.4843A>T, XM_047435063.1:c.4843A>G, XM_047435063.1:c.4843A>T, XM_047435065.1:c.4843A>G, XM_047435065.1:c.4843A>T, XM_047435070.1:c.4513A>G, XM_047435070.1:c.4513A>T, XM_047435081.1:c.4588A>G, XM_047435081.1:c.4588A>T, XM_047435066.1:c.4513A>G, XM_047435066.1:c.4513A>T, XM_047435071.1:c.4840A>G, XM_047435071.1:c.4840A>T, XM_047435076.1:c.4510A>G, XM_047435076.1:c.4510A>T, XM_047435075.1:c.4513A>G, XM_047435075.1:c.4513A>T, XM_047435082.1:c.4300A>G, XM_047435082.1:c.4300A>T, NP_055459.5:p.Ile1478Val, NP_055459.5:p.Ile1478Phe, NP_001185763.3:p.Ile1478Val, NP_001185763.3:p.Ile1478Phe, NP_001337450.1:p.Ile1615Val, NP_001337450.1:p.Ile1615Phe, NP_001185761.2:p.Ile1434Val, NP_001185761.2:p.Ile1434Phe, NP_001337451.1:p.Ile1544Val, NP_001337451.1:p.Ile1544Phe, NP_001337452.1:p.Ile1433Val, NP_001337452.1:p.Ile1433Phe, NP_001337449.1:p.Ile1640Val, NP_001337449.1:p.Ile1640Phe, NP_001364321.1:p.Ile1615Val, NP_001364321.1:p.Ile1615Phe, NP_001364322.1:p.Ile1434Val, NP_001364322.1:p.Ile1434Phe, NP_001382226.1:p.Ile1641Val, NP_001382226.1:p.Ile1641Phe, NP_001382230.1:p.Ile1640Val, NP_001382230.1:p.Ile1640Phe, NP_001382228.1:p.Ile1640Val, NP_001382228.1:p.Ile1640Phe, NP_001382355.1:p.Ile1544Val, NP_001382355.1:p.Ile1544Phe, NP_001382227.1:p.Ile1614Val, NP_001382227.1:p.Ile1614Phe, NP_001382229.1:p.Ile1578Val, NP_001382229.1:p.Ile1578Phe, NP_001382234.1:p.Ile1544Val, NP_001382234.1:p.Ile1544Phe, NP_001382238.1:p.Ile1530Val, NP_001382238.1:p.Ile1530Phe, NP_001382233.1:p.Ile1544Val, NP_001382233.1:p.Ile1544Phe, NP_001382232.1:p.Ile1504Val, NP_001382232.1:p.Ile1504Phe, NP_001382235.1:p.Ile1434Val, NP_001382235.1:p.Ile1434Phe, NP_001382231.1:p.Ile1578Val, NP_001382231.1:p.Ile1578Phe, NP_001382239.1:p.Ile1544Val, NP_001382239.1:p.Ile1544Phe, NP_001382237.1:p.Ile1543Val, NP_001382237.1:p.Ile1543Phe, NP_001382241.1:p.Ile1433Val, NP_001382241.1:p.Ile1433Phe, NP_001382242.1:p.Ile1507Val, NP_001382242.1:p.Ile1507Phe, NP_001382236.1:p.Ile1504Val, NP_001382236.1:p.Ile1504Phe, NP_001382240.1:p.Ile1434Val, NP_001382240.1:p.Ile1434Phe, NP_001382243.1:p.Ile1433Val, NP_001382243.1:p.Ile1433Phe, XP_005273038.2:p.Ile1641Val, XP_005273038.2:p.Ile1641Phe, XP_011508478.1:p.Ile1505Val, XP_011508478.1:p.Ile1505Phe, XP_016858370.1:p.Ile1641Val, XP_016858370.1:p.Ile1641Phe, XP_016858371.1:p.Ile1640Val, XP_016858371.1:p.Ile1640Phe, XP_016858373.1:p.Ile1641Val, XP_016858373.1:p.Ile1641Phe, XP_016858368.1:p.Ile1641Val, XP_016858368.1:p.Ile1641Phe, XP_016858372.1:p.Ile1641Val, XP_016858372.1:p.Ile1641Phe, XP_016858374.1:p.Ile1531Val, XP_016858374.1:p.Ile1531Phe, XP_016858375.1:p.Ile1530Val, XP_016858375.1:p.Ile1530Phe, XP_016858385.1:p.Ile1641Val, XP_016858385.1:p.Ile1641Phe, XP_016858386.1:p.Ile1640Val, XP_016858386.1:p.Ile1640Phe, XP_016858379.1:p.Ile1641Val, XP_016858379.1:p.Ile1641Phe, XP_016858390.1:p.Ile1531Val, XP_016858390.1:p.Ile1531Phe, XP_016858389.1:p.Ile1531Val, XP_016858389.1:p.Ile1531Phe, XP_024306836.1:p.Ile1504Val, XP_024306836.1:p.Ile1504Phe, XP_047291029.1:p.Ile1531Val, XP_047291029.1:p.Ile1531Phe, XP_047291030.1:p.Ile1530Val, XP_047291030.1:p.Ile1530Phe, XP_047291028.1:p.Ile1531Val, XP_047291028.1:p.Ile1531Phe, XP_047291020.1:p.Ile1615Val, XP_047291020.1:p.Ile1615Phe, XP_047291019.1:p.Ile1615Val, XP_047291019.1:p.Ile1615Phe, XP_047291021.1:p.Ile1615Val, XP_047291021.1:p.Ile1615Phe, XP_047291026.1:p.Ile1505Val, XP_047291026.1:p.Ile1505Phe, XP_047291037.1:p.Ile1530Val, XP_047291037.1:p.Ile1530Phe, XP_047291022.1:p.Ile1505Val, XP_047291022.1:p.Ile1505Phe, XP_047291027.1:p.Ile1614Val, XP_047291027.1:p.Ile1614Phe, XP_047291032.1:p.Ile1504Val, XP_047291032.1:p.Ile1504Phe, XP_047291031.1:p.Ile1505Val, XP_047291031.1:p.Ile1505Phe, XP_047291038.1:p.Ile1434Val, XP_047291038.1:p.Ile1434Phe

                  9.

                  rs183737546 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:149031993 (GRCh38)
                    1:144852450 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:149031992:C:T
                    Gene:
                    PDE4DIP (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.015213/68 (ALFA)
                    A=0.006027/705 (ExAC)
                    A=0.024881/417 (TOMMO)
                    A=0.453704/98 (Qatari)
                    A=0.492833/1444 (KOREAN)
                    G=0.5/271 (SGDP_PRJ)
                    HGVS:
                    NC_000001.11:g.149031993C>T, NW_003871055.3:g.5847406C>T, NG_027693.2:g.228818C>T, NM_014644.7:c.*8C>T, NM_014644.6:c.*8C>T, NM_014644.5:c.*8C>T, NM_001198832.4:c.*8C>T, NM_001198832.3:c.*8C>T, NM_001198832.2:c.*8C>T, NM_001350522.3:c.6942C>T, NM_001350522.2:c.6942C>T, NM_001350522.1:c.6942C>T, NM_001350520.2:c.*8C>T, NM_001350520.1:c.*8C>T, NM_001377392.2:c.*8C>T, NM_001377392.1:c.*8C>T, NM_001377393.2:c.*8C>T, NM_001377393.1:c.*8C>T, NM_001395301.1:c.*8C>T, NM_001395426.1:c.*8C>T, NM_001395298.1:c.*8C>T, NM_001395300.1:c.*8C>T, NM_001395305.1:c.*8C>T, NM_001395309.1:c.*8C>T, NM_001395303.1:c.*8C>T, NM_001395310.1:c.*8C>T, NM_001395312.1:c.*8C>T, NM_001395313.1:c.*8C>T, NM_001395307.1:c.*8C>T, NC_000001.10:g.144852450G>A, XM_005272981.4:c.*8C>T, XM_005272981.3:c.*8C>T, XM_005272981.2:c.*8C>T, XM_005272981.1:c.*8C>T, XM_011510176.3:c.*8C>T, XM_011510176.2:c.*8C>T, XM_011510176.1:c.*8C>T, XM_017002881.2:c.*8C>T, XM_017002881.1:c.*8C>T, XM_017002882.2:c.*8C>T, XM_017002882.1:c.*8C>T, XM_017002884.2:c.*8C>T, XM_017002884.1:c.*8C>T, XM_017002885.2:c.*8C>T, XM_017002885.1:c.*8C>T, XM_017002886.2:c.*8C>T, XM_017002886.1:c.*8C>T, XM_017002896.2:c.*8C>T, XM_017002896.1:c.*8C>T, XM_017002897.2:c.*8C>T, XM_017002897.1:c.*8C>T, XM_017002901.2:c.*8C>T, XM_017002901.1:c.*8C>T, XM_047435073.1:c.*8C>T, XM_047435074.1:c.*8C>T, XM_047435064.1:c.*8C>T, XM_047435070.1:c.*8C>T, XM_047435081.1:c.*8C>T, XM_047435076.1:c.*8C>T, XM_047435082.1:c.*8C>T

                    10.

                    rs782597157 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:148953147 (GRCh38)
                      1:144931342 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:148953146:G:A
                      Gene:
                      PDE4DIP (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Clinical significance:
                      pathogenic
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0./0 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      T=0.000024/6 (GnomAD_exomes)
                      T=0.000025/3 (ExAC)
                      HGVS:
                      NC_000001.11:g.148953147G>A, NW_003871055.3:g.5768560G>A, NG_027693.2:g.149972G>A, NM_001002811.3:c.367G>A, NM_001002811.2:c.367G>A, NM_001350520.2:c.367G>A, NM_001350520.1:c.367G>A, NM_001395297.1:c.367G>A, NM_001395315.1:c.367G>A, NM_001395301.1:c.367G>A, NM_001395299.1:c.367G>A, NM_001395309.1:c.367G>A, NC_000001.10:g.144931342C>T, XM_005272981.4:c.367G>A, XM_005272981.3:c.367G>A, XM_005272981.2:c.367G>A, XM_005272981.1:c.367G>A, XM_017002881.2:c.367G>A, XM_017002881.1:c.367G>A, XM_017002882.2:c.367G>A, XM_017002882.1:c.367G>A, XM_017002884.2:c.367G>A, XM_017002884.1:c.367G>A, XM_017002879.2:c.367G>A, XM_017002879.1:c.367G>A, XM_017002883.2:c.367G>A, XM_017002883.1:c.367G>A, XM_017002885.2:c.367G>A, XM_017002885.1:c.367G>A, XM_017002886.2:c.367G>A, XM_017002886.1:c.367G>A, XM_017002896.2:c.367G>A, XM_017002896.1:c.367G>A, XM_017002897.2:c.367G>A, XM_017002897.1:c.367G>A, XM_017002890.2:c.367G>A, XM_017002890.1:c.367G>A, XM_017002901.2:c.367G>A, XM_017002901.1:c.367G>A, XM_017002900.2:c.367G>A, XM_017002900.1:c.367G>A, XM_047435073.1:c.367G>A, XM_047435074.1:c.367G>A, XM_047435072.1:c.367G>A, XM_047435081.1:c.367G>A, NP_001002811.2:p.Ala123Thr, NP_001337449.1:p.Ala123Thr, NP_001382226.1:p.Ala123Thr, NP_001382244.1:p.Ala123Thr, NP_001382230.1:p.Ala123Thr, NP_001382228.1:p.Ala123Thr, NP_001382238.1:p.Ala123Thr, XP_005273038.2:p.Ala123Thr, XP_016858370.1:p.Ala123Thr, XP_016858371.1:p.Ala123Thr, XP_016858373.1:p.Ala123Thr, XP_016858368.1:p.Ala123Thr, XP_016858372.1:p.Ala123Thr, XP_016858374.1:p.Ala123Thr, XP_016858375.1:p.Ala123Thr, XP_016858385.1:p.Ala123Thr, XP_016858386.1:p.Ala123Thr, XP_016858379.1:p.Ala123Thr, XP_016858390.1:p.Ala123Thr, XP_016858389.1:p.Ala123Thr, XP_047291029.1:p.Ala123Thr, XP_047291030.1:p.Ala123Thr, XP_047291028.1:p.Ala123Thr, XP_047291037.1:p.Ala123Thr

                      11.

                      rs1356031674 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGCCGTTTCTTCCT>-,TGCCGTTTCTTCCTTGCCGTTTCTTCCT [Show Flanks]
                        Chromosome:
                        1:148960638 (GRCh38)
                        1:144923825 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:148960636:TTGCCGTTTCTTCCT:T,NC_000001.11:148960636:TTGCCGTTTCTTCCT:TTGCCGTTTCTTCCTTGCCGTTTCTTCCT
                        Gene:
                        PDE4DIP (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Clinical significance:
                        benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTGCCGTTTCTTCCTTGCCGTTTCTTCCT=0.12679/1504 (ALFA)
                        TTGCCGTTTCTTCC=0.01198/338 (TOMMO)
                        TTGCCGTTTCTTCC=0.09275/594 (1000Genomes)
                        TTGCCGTTTCTTCC=0.11804/8901 (GnomAD)
                        HGVS:

                        12.

                        rs1553638882 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:149032053 (GRCh38)
                          1:144852390 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:149032052:G:A
                          Gene:
                          PDE4DIP (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
                          Clinical significance:
                          benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.265916/6733 (ALFA)
                          A=0.000329/46 (GnomAD)
                          C=0.499984/60642 (ExAC)
                          C=0.5/108 (Qatari)
                          C=0.5/1465 (KOREAN)
                          C=0.5/267 (MGP)
                          C=0.5/279 (SGDP_PRJ)
                          C=0.5/8380 (TOMMO)
                          HGVS:
                          NC_000001.11:g.149032053G>A, NW_003871055.3:g.5847466G>A, NG_027693.2:g.228878G>A, NM_014644.7:c.*68G>A, NM_014644.6:c.*68G>A, NM_014644.5:c.*68G>A, NM_001198834.5:c.7053G>A, NM_001198834.4:c.7053G>A, NM_001198834.3:c.7053G>A, NM_001350521.4:c.7347G>A, NM_001350521.3:c.7347G>A, NM_001350521.2:c.7347G>A, NM_001350521.1:c.7347G>A, NM_001198832.4:c.*68G>A, NM_001198832.3:c.*68G>A, NM_001198832.2:c.*68G>A, NM_001350522.3:c.7002G>A, NM_001350522.2:c.7002G>A, NM_001350522.1:c.7002G>A, NM_001350523.3:c.6732G>A, NM_001350523.2:c.6732G>A, NM_001350523.1:c.6732G>A, NM_001350520.2:c.*68G>A, NM_001350520.1:c.*68G>A, NM_001377392.2:c.*68G>A, NM_001377392.1:c.*68G>A, NM_001377393.2:c.*68G>A, NM_001377393.1:c.*68G>A, NM_001395297.1:c.7542G>A, NM_001395301.1:c.*68G>A, NM_001395299.1:c.7353G>A, NM_001395426.1:c.*68G>A, NM_001395298.1:c.*68G>A, NM_001395300.1:c.*68G>A, NM_001395305.1:c.*68G>A, NM_001395309.1:c.*68G>A, NM_001395304.1:c.7065G>A, NM_001395303.1:c.*68G>A, NM_001395306.1:c.6921G>A, NM_001395302.1:c.7113G>A, NM_001395310.1:c.*68G>A, NM_001395308.1:c.6822G>A, NM_001395312.1:c.*68G>A, NM_001395313.1:c.*68G>A, NM_001395307.1:c.*68G>A, NM_001395311.1:c.6735G>A, NM_001395314.1:c.6492G>A, NC_000001.10:g.144852390C>T, XM_005272981.4:c.*68G>A, XM_005272981.3:c.*68G>A, XM_005272981.2:c.*68G>A, XM_005272981.1:c.*68G>A, XM_011510176.3:c.*68G>A, XM_011510176.2:c.*68G>A, XM_011510176.1:c.*68G>A, XM_017002881.2:c.*68G>A, XM_017002881.1:c.*68G>A, XM_017002882.2:c.*68G>A, XM_017002882.1:c.*68G>A, XM_017002884.2:c.*68G>A, XM_017002884.1:c.*68G>A, XM_017002879.2:c.7356G>A, XM_017002879.1:c.7356G>A, XM_017002883.2:c.7302G>A, XM_017002883.1:c.7302G>A, XM_017002885.2:c.*68G>A, XM_017002885.1:c.*68G>A, XM_017002886.2:c.*68G>A, XM_017002886.1:c.*68G>A, XM_017002896.2:c.*68G>A, XM_017002896.1:c.*68G>A, XM_017002897.2:c.*68G>A, XM_017002897.1:c.*68G>A, XM_017002890.2:c.7116G>A, XM_017002890.1:c.7116G>A, XM_017002901.2:c.*68G>A, XM_017002901.1:c.*68G>A, XM_017002900.2:c.6786G>A, XM_017002900.1:c.6786G>A, XM_024451068.2:c.6945G>A, XM_024451068.1:c.6945G>A, XM_047435073.1:c.*68G>A, XM_047435074.1:c.*68G>A, XM_047435072.1:c.7026G>A, XM_047435064.1:c.*68G>A, XM_047435063.1:c.7278G>A, XM_047435065.1:c.7224G>A, XM_047435070.1:c.*68G>A, XM_047435081.1:c.*68G>A, XM_047435066.1:c.7134G>A, XM_047435071.1:c.7035G>A, XM_047435076.1:c.*68G>A, XM_047435075.1:c.6948G>A, XM_047435082.1:c.*68G>A, NP_001185763.3:p.Trp2351Ter, NP_001337450.1:p.Trp2449Ter, NP_001337451.1:p.Trp2334Ter, NP_001337452.1:p.Trp2244Ter, NP_001382226.1:p.Trp2514Ter, NP_001382228.1:p.Trp2451Ter, NP_001382233.1:p.Trp2355Ter, NP_001382235.1:p.Trp2307Ter, NP_001382231.1:p.Trp2371Ter, NP_001382237.1:p.Trp2274Ter, NP_001382240.1:p.Trp2245Ter, NP_001382243.1:p.Trp2164Ter, XP_016858368.1:p.Trp2452Ter, XP_016858372.1:p.Trp2434Ter, XP_016858379.1:p.Trp2372Ter, XP_016858389.1:p.Trp2262Ter, XP_024306836.1:p.Trp2315Ter, XP_047291028.1:p.Trp2342Ter, XP_047291019.1:p.Trp2426Ter, XP_047291021.1:p.Trp2408Ter, XP_047291022.1:p.Trp2378Ter, XP_047291027.1:p.Trp2345Ter, XP_047291031.1:p.Trp2316Ter

                          13.

                          rs58012659 has merged into rs2455994 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:148961952 (GRCh38)
                            1:144922523 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:148961951:G:A
                            Gene:
                            PDE4DIP (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Clinical significance:
                            benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.235362/7525 (ALFA)
                            A=0.000022/3 (GnomAD)
                            T=0.030847/517 (TOMMO)
                            T=0.04471/131 (KOREAN)
                            T=0.21161/113 (MGP)
                            T=0.290899/35307 (ExAC)
                            T=0.342947/4459 (GoESP)
                            T=0.402778/87 (Qatari)
                            C=0.5/103 (SGDP_PRJ)
                            C=0.5/15 (Siberian)
                            HGVS:
                            NC_000001.11:g.148961952G>A, NW_003871055.3:g.5777365G>A, NG_027693.2:g.158777G>A, NM_014644.7:c.884G>A, NM_014644.6:c.884G>A, NM_014644.5:c.884G>A, NM_001198834.5:c.884G>A, NM_001198834.4:c.884G>A, NM_001198834.3:c.884G>A, NM_001350521.4:c.1295G>A, NM_001350521.3:c.1295G>A, NM_001350521.2:c.1295G>A, NM_001350521.1:c.1295G>A, NM_001198832.4:c.1082G>A, NM_001198832.3:c.1082G>A, NM_001198832.2:c.1082G>A, NM_001002812.4:c.884G>A, NM_001002812.3:c.884G>A, NM_001002812.2:c.884G>A, NM_001350522.3:c.1082G>A, NM_001350522.2:c.1082G>A, NM_001350522.1:c.1082G>A, NM_001350523.3:c.1082G>A, NM_001350523.2:c.1082G>A, NM_001350523.1:c.1082G>A, NM_001002811.3:c.1373G>A, NM_001002811.2:c.1373G>A, NM_001350520.2:c.1373G>A, NM_001350520.1:c.1373G>A, NM_001377392.2:c.1295G>A, NM_001377392.1:c.1295G>A, NM_001377393.2:c.1082G>A, NM_001377393.1:c.1082G>A, NM_001395297.1:c.1373G>A, NM_001395315.1:c.1373G>A, NM_001395301.1:c.1373G>A, NM_001395299.1:c.1373G>A, NM_001395426.1:c.1082G>A, NM_001395298.1:c.1295G>A, NM_001395300.1:c.1184G>A, NM_001395317.1:c.1295G>A, NM_001395320.1:c.1082G>A, NM_001395305.1:c.1082G>A, NM_001395309.1:c.1373G>A, NM_001395304.1:c.1082G>A, NM_001395321.1:c.971G>A, NM_001395303.1:c.1295G>A, NM_001395306.1:c.1082G>A, NM_001395302.1:c.1184G>A, NM_001395310.1:c.1082G>A, NM_001395308.1:c.1082G>A, NM_001395312.1:c.1082G>A, NM_001395313.1:c.971G>A, NM_001395307.1:c.1295G>A, NM_001395311.1:c.1082G>A, NM_001395314.1:c.1082G>A, NM_001395323.1:c.245G>A, NM_001395324.1:c.245G>A, NM_001395319.1:c.1034G>A, NM_001395316.1:c.1295G>A, NM_001395318.1:c.1082G>A, NM_001395322.1:c.788G>A, NC_000001.10:g.144922523C>T, XM_005272981.4:c.1373G>A, XM_005272981.3:c.1373G>A, XM_005272981.2:c.1373G>A, XM_005272981.1:c.1373G>A, XM_011510176.3:c.1295G>A, XM_011510176.2:c.1295G>A, XM_011510176.1:c.1295G>A, XM_017002881.2:c.1373G>A, XM_017002881.1:c.1373G>A, XM_017002882.2:c.1373G>A, XM_017002882.1:c.1373G>A, XM_017002884.2:c.1373G>A, XM_017002884.1:c.1373G>A, XM_017002879.2:c.1373G>A, XM_017002879.1:c.1373G>A, XM_017002883.2:c.1373G>A, XM_017002883.1:c.1373G>A, XM_017002885.2:c.1373G>A, XM_017002885.1:c.1373G>A, XM_017002886.2:c.1373G>A, XM_017002886.1:c.1373G>A, XM_017002896.2:c.1373G>A, XM_017002896.1:c.1373G>A, XM_017002897.2:c.1373G>A, XM_017002897.1:c.1373G>A, XM_017002890.2:c.1373G>A, XM_017002890.1:c.1373G>A, XM_017002901.2:c.1373G>A, XM_017002901.1:c.1373G>A, XM_017002900.2:c.1373G>A, XM_017002900.1:c.1373G>A, XM_024451068.2:c.1295G>A, XM_024451068.1:c.1295G>A, XM_047435073.1:c.1373G>A, XM_047435074.1:c.1373G>A, XM_047435072.1:c.1373G>A, XM_047435064.1:c.1295G>A, XM_047435063.1:c.1295G>A, XM_047435065.1:c.1295G>A, XM_047435070.1:c.1295G>A, XM_047435081.1:c.1373G>A, XM_047435066.1:c.1295G>A, XM_047435071.1:c.1295G>A, XM_047435076.1:c.1295G>A, XM_047435075.1:c.1295G>A, XM_047435082.1:c.1082G>A, NP_055459.5:p.Arg295His, NP_001185763.3:p.Arg295His, NP_001337450.1:p.Arg432His, NP_001185761.2:p.Arg361His, NP_001002812.2:p.Arg295His, NP_001337451.1:p.Arg361His, NP_001337452.1:p.Arg361His, NP_001002811.2:p.Arg458His, NP_001337449.1:p.Arg458His, NP_001364321.1:p.Arg432His, NP_001364322.1:p.Arg361His, NP_001382226.1:p.Arg458His, NP_001382244.1:p.Arg458His, NP_001382230.1:p.Arg458His, NP_001382228.1:p.Arg458His, NP_001382355.1:p.Arg361His, NP_001382227.1:p.Arg432His, NP_001382229.1:p.Arg395His, NP_001382246.1:p.Arg432His, NP_001382249.1:p.Arg361His, NP_001382234.1:p.Arg361His, NP_001382238.1:p.Arg458His, NP_001382233.1:p.Arg361His, NP_001382250.1:p.Arg324His, NP_001382232.1:p.Arg432His, NP_001382235.1:p.Arg361His, NP_001382231.1:p.Arg395His, NP_001382239.1:p.Arg361His, NP_001382237.1:p.Arg361His, NP_001382241.1:p.Arg361His, NP_001382242.1:p.Arg324His, NP_001382236.1:p.Arg432His, NP_001382240.1:p.Arg361His, NP_001382243.1:p.Arg361His, NP_001382252.1:p.Arg82His, NP_001382253.1:p.Arg82His, NP_001382248.1:p.Arg345His, NP_001382245.1:p.Arg432His, NP_001382247.1:p.Arg361His, NP_001382251.1:p.Arg263His, XP_005273038.2:p.Arg458His, XP_011508478.1:p.Arg432His, XP_016858370.1:p.Arg458His, XP_016858371.1:p.Arg458His, XP_016858373.1:p.Arg458His, XP_016858368.1:p.Arg458His, XP_016858372.1:p.Arg458His, XP_016858374.1:p.Arg458His, XP_016858375.1:p.Arg458His, XP_016858385.1:p.Arg458His, XP_016858386.1:p.Arg458His, XP_016858379.1:p.Arg458His, XP_016858390.1:p.Arg458His, XP_016858389.1:p.Arg458His, XP_024306836.1:p.Arg432His, XP_047291029.1:p.Arg458His, XP_047291030.1:p.Arg458His, XP_047291028.1:p.Arg458His, XP_047291020.1:p.Arg432His, XP_047291019.1:p.Arg432His, XP_047291021.1:p.Arg432His, XP_047291026.1:p.Arg432His, XP_047291037.1:p.Arg458His, XP_047291022.1:p.Arg432His, XP_047291027.1:p.Arg432His, XP_047291032.1:p.Arg432His, XP_047291031.1:p.Arg432His, XP_047291038.1:p.Arg361His

                            14.

                            rs370448240 has merged into rs3215779 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>-,AA [Show Flanks]
                              Chromosome:
                              1:148960745 (GRCh38)
                              1:144923729 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:148960744:AA:A,NC_000001.11:148960744:AA:AAA
                              Gene:
                              PDE4DIP (Varview)
                              Functional Consequence:
                              frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AA=0.02397/2177 (ALFA)
                              -=0.192938/23425 (ExAC)
                              -=0.351443/207 (Vietnamese)
                              T=0.571062/9571 (TOMMO)
                              T=0.814696/4080 (1000Genomes)
                              HGVS:
                              NC_000001.11:g.148960746del, NC_000001.11:g.148960746dup, NW_003871055.3:g.5776159del, NW_003871055.3:g.5776159dup, NG_027693.2:g.157571del, NG_027693.2:g.157571dup, NM_014644.7:c.729del, NM_014644.7:c.729dup, NM_014644.6:c.729del, NM_014644.6:c.729dup, NM_014644.5:c.729del, NM_014644.5:c.729dup, NM_001198834.5:c.729del, NM_001198834.5:c.729dup, NM_001198834.4:c.729del, NM_001198834.4:c.729dup, NM_001198834.3:c.729del, NM_001198834.3:c.729dup, NM_001350521.4:c.1140del, NM_001350521.4:c.1140dup, NM_001350521.3:c.1140del, NM_001350521.3:c.1140dup, NM_001350521.2:c.1140del, NM_001350521.2:c.1140dup, NM_001350521.1:c.1140del, NM_001350521.1:c.1140dup, NM_001198832.4:c.927del, NM_001198832.4:c.927dup, NM_001198832.3:c.927del, NM_001198832.3:c.927dup, NM_001198832.2:c.927del, NM_001198832.2:c.927dup, NM_001002812.4:c.729del, NM_001002812.4:c.729dup, NM_001002812.3:c.729del, NM_001002812.3:c.729dup, NM_001002812.2:c.729del, NM_001002812.2:c.729dup, NM_001350522.3:c.927del, NM_001350522.3:c.927dup, NM_001350522.2:c.927del, NM_001350522.2:c.927dup, NM_001350522.1:c.927del, NM_001350522.1:c.927dup, NM_001350523.3:c.927del, NM_001350523.3:c.927dup, NM_001350523.2:c.927del, NM_001350523.2:c.927dup, NM_001350523.1:c.927del, NM_001350523.1:c.927dup, NM_001002811.3:c.1218del, NM_001002811.3:c.1218dup, NM_001002811.2:c.1218del, NM_001002811.2:c.1218dup, NM_001350520.2:c.1218del, NM_001350520.2:c.1218dup, NM_001350520.1:c.1218del, NM_001350520.1:c.1218dup, NM_001377392.2:c.1140del, NM_001377392.2:c.1140dup, NM_001377392.1:c.1140del, NM_001377392.1:c.1140dup, NM_001377393.2:c.927del, NM_001377393.2:c.927dup, NM_001377393.1:c.927del, NM_001377393.1:c.927dup, NM_001395297.1:c.1218del, NM_001395297.1:c.1218dup, NM_001395315.1:c.1218del, NM_001395315.1:c.1218dup, NM_001395301.1:c.1218del, NM_001395301.1:c.1218dup, NM_001395299.1:c.1218del, NM_001395299.1:c.1218dup, NM_001395426.1:c.927del, NM_001395426.1:c.927dup, NM_001395298.1:c.1140del, NM_001395298.1:c.1140dup, NM_001395300.1:c.1029del, NM_001395300.1:c.1029dup, NM_001395317.1:c.1140del, NM_001395317.1:c.1140dup, NM_001395320.1:c.927del, NM_001395320.1:c.927dup, NM_001395305.1:c.927del, NM_001395305.1:c.927dup, NM_001395309.1:c.1218del, NM_001395309.1:c.1218dup, NM_001395304.1:c.927del, NM_001395304.1:c.927dup, NM_001395321.1:c.816del, NM_001395321.1:c.816dup, NM_001395303.1:c.1140del, NM_001395303.1:c.1140dup, NM_001395306.1:c.927del, NM_001395306.1:c.927dup, NM_001395302.1:c.1029del, NM_001395302.1:c.1029dup, NM_001395310.1:c.927del, NM_001395310.1:c.927dup, NM_001395308.1:c.927del, NM_001395308.1:c.927dup, NM_001395312.1:c.927del, NM_001395312.1:c.927dup, NM_001395313.1:c.816del, NM_001395313.1:c.816dup, NM_001395307.1:c.1140del, NM_001395307.1:c.1140dup, NM_001395311.1:c.927del, NM_001395311.1:c.927dup, NM_001395314.1:c.927del, NM_001395314.1:c.927dup, NM_001395323.1:c.90del, NM_001395323.1:c.90dup, NM_001395324.1:c.90del, NM_001395324.1:c.90dup, NM_001395319.1:c.879del, NM_001395319.1:c.879dup, NM_001395316.1:c.1140del, NM_001395316.1:c.1140dup, NM_001395318.1:c.927del, NM_001395318.1:c.927dup, NM_001395322.1:c.633del, NM_001395322.1:c.633dup, NC_000001.10:g.144923730del, NC_000001.10:g.144923730dup, XM_005272981.4:c.1218del, XM_005272981.4:c.1218dup, XM_005272981.3:c.1218del, XM_005272981.3:c.1218dup, XM_005272981.2:c.1218del, XM_005272981.2:c.1218dup, XM_005272981.1:c.1218del, XM_005272981.1:c.1218dup, XM_011510176.3:c.1140del, XM_011510176.3:c.1140dup, XM_011510176.2:c.1140del, XM_011510176.2:c.1140dup, XM_011510176.1:c.1140del, XM_011510176.1:c.1140dup, XM_017002881.2:c.1218del, XM_017002881.2:c.1218dup, XM_017002881.1:c.1218del, XM_017002881.1:c.1218dup, XM_017002882.2:c.1218del, XM_017002882.2:c.1218dup, XM_017002882.1:c.1218del, XM_017002882.1:c.1218dup, XM_017002884.2:c.1218del, XM_017002884.2:c.1218dup, XM_017002884.1:c.1218del, XM_017002884.1:c.1218dup, XM_017002879.2:c.1218del, XM_017002879.2:c.1218dup, XM_017002879.1:c.1218del, XM_017002879.1:c.1218dup, XM_017002883.2:c.1218del, XM_017002883.2:c.1218dup, XM_017002883.1:c.1218del, XM_017002883.1:c.1218dup, XM_017002885.2:c.1218del, XM_017002885.2:c.1218dup, XM_017002885.1:c.1218del, XM_017002885.1:c.1218dup, XM_017002886.2:c.1218del, XM_017002886.2:c.1218dup, XM_017002886.1:c.1218del, XM_017002886.1:c.1218dup, XM_017002896.2:c.1218del, XM_017002896.2:c.1218dup, XM_017002896.1:c.1218del, XM_017002896.1:c.1218dup, XM_017002897.2:c.1218del, XM_017002897.2:c.1218dup, XM_017002897.1:c.1218del, XM_017002897.1:c.1218dup, XM_017002890.2:c.1218del, XM_017002890.2:c.1218dup, XM_017002890.1:c.1218del, XM_017002890.1:c.1218dup, XM_017002901.2:c.1218del, XM_017002901.2:c.1218dup, XM_017002901.1:c.1218del, XM_017002901.1:c.1218dup, XM_017002900.2:c.1218del, XM_017002900.2:c.1218dup, XM_017002900.1:c.1218del, XM_017002900.1:c.1218dup, XM_024451068.2:c.1140del, XM_024451068.2:c.1140dup, XM_024451068.1:c.1140del, XM_024451068.1:c.1140dup, XM_047435073.1:c.1218del, XM_047435073.1:c.1218dup, XM_047435074.1:c.1218del, XM_047435074.1:c.1218dup, XM_047435072.1:c.1218del, XM_047435072.1:c.1218dup, XM_047435064.1:c.1140del, XM_047435064.1:c.1140dup, XM_047435063.1:c.1140del, XM_047435063.1:c.1140dup, XM_047435065.1:c.1140del, XM_047435065.1:c.1140dup, XM_047435070.1:c.1140del, XM_047435070.1:c.1140dup, XM_047435081.1:c.1218del, XM_047435081.1:c.1218dup, XM_047435066.1:c.1140del, XM_047435066.1:c.1140dup, XM_047435071.1:c.1140del, XM_047435071.1:c.1140dup, XM_047435076.1:c.1140del, XM_047435076.1:c.1140dup, XM_047435075.1:c.1140del, XM_047435075.1:c.1140dup, XM_047435082.1:c.927del, XM_047435082.1:c.927dup, NP_055459.5:p.Glu243fs, NP_055459.5:p.Leu244fs, NP_001185763.3:p.Glu243fs, NP_001185763.3:p.Leu244fs, NP_001337450.1:p.Glu380fs, NP_001337450.1:p.Leu381fs, NP_001185761.2:p.Glu309fs, NP_001185761.2:p.Leu310fs, NP_001002812.2:p.Glu243fs, NP_001002812.2:p.Leu244fs, NP_001337451.1:p.Glu309fs, NP_001337451.1:p.Leu310fs, NP_001337452.1:p.Glu309fs, NP_001337452.1:p.Leu310fs, NP_001002811.2:p.Glu406fs, NP_001002811.2:p.Leu407fs, NP_001337449.1:p.Glu406fs, NP_001337449.1:p.Leu407fs, NP_001364321.1:p.Glu380fs, NP_001364321.1:p.Leu381fs, NP_001364322.1:p.Glu309fs, NP_001364322.1:p.Leu310fs, NP_001382226.1:p.Glu406fs, NP_001382226.1:p.Leu407fs, NP_001382244.1:p.Glu406fs, NP_001382244.1:p.Leu407fs, NP_001382230.1:p.Glu406fs, NP_001382230.1:p.Leu407fs, NP_001382228.1:p.Glu406fs, NP_001382228.1:p.Leu407fs, NP_001382355.1:p.Glu309fs, NP_001382355.1:p.Leu310fs, NP_001382227.1:p.Glu380fs, NP_001382227.1:p.Leu381fs, NP_001382229.1:p.Glu343fs, NP_001382229.1:p.Leu344fs, NP_001382246.1:p.Glu380fs, NP_001382246.1:p.Leu381fs, NP_001382249.1:p.Glu309fs, NP_001382249.1:p.Leu310fs, NP_001382234.1:p.Glu309fs, NP_001382234.1:p.Leu310fs, NP_001382238.1:p.Glu406fs, NP_001382238.1:p.Leu407fs, NP_001382233.1:p.Glu309fs, NP_001382233.1:p.Leu310fs, NP_001382250.1:p.Glu272fs, NP_001382250.1:p.Leu273fs, NP_001382232.1:p.Glu380fs, NP_001382232.1:p.Leu381fs, NP_001382235.1:p.Glu309fs, NP_001382235.1:p.Leu310fs, NP_001382231.1:p.Glu343fs, NP_001382231.1:p.Leu344fs, NP_001382239.1:p.Glu309fs, NP_001382239.1:p.Leu310fs, NP_001382237.1:p.Glu309fs, NP_001382237.1:p.Leu310fs, NP_001382241.1:p.Glu309fs, NP_001382241.1:p.Leu310fs, NP_001382242.1:p.Glu272fs, NP_001382242.1:p.Leu273fs, NP_001382236.1:p.Glu380fs, NP_001382236.1:p.Leu381fs, NP_001382240.1:p.Glu309fs, NP_001382240.1:p.Leu310fs, NP_001382243.1:p.Glu309fs, NP_001382243.1:p.Leu310fs, NP_001382252.1:p.Glu30fs, NP_001382252.1:p.Leu31fs, NP_001382253.1:p.Glu30fs, NP_001382253.1:p.Leu31fs, NP_001382248.1:p.Glu293fs, NP_001382248.1:p.Leu294fs, NP_001382245.1:p.Glu380fs, NP_001382245.1:p.Leu381fs, NP_001382247.1:p.Glu309fs, NP_001382247.1:p.Leu310fs, NP_001382251.1:p.Glu211fs, NP_001382251.1:p.Leu212fs, XP_005273038.2:p.Glu406fs, XP_005273038.2:p.Leu407fs, XP_011508478.1:p.Glu380fs, XP_011508478.1:p.Leu381fs, XP_016858370.1:p.Glu406fs, XP_016858370.1:p.Leu407fs, XP_016858371.1:p.Glu406fs, XP_016858371.1:p.Leu407fs, XP_016858373.1:p.Glu406fs, XP_016858373.1:p.Leu407fs, XP_016858368.1:p.Glu406fs, XP_016858368.1:p.Leu407fs, XP_016858372.1:p.Glu406fs, XP_016858372.1:p.Leu407fs, XP_016858374.1:p.Glu406fs, XP_016858374.1:p.Leu407fs, XP_016858375.1:p.Glu406fs, XP_016858375.1:p.Leu407fs, XP_016858385.1:p.Glu406fs, XP_016858385.1:p.Leu407fs, XP_016858386.1:p.Glu406fs, XP_016858386.1:p.Leu407fs, XP_016858379.1:p.Glu406fs, XP_016858379.1:p.Leu407fs, XP_016858390.1:p.Glu406fs, XP_016858390.1:p.Leu407fs, XP_016858389.1:p.Glu406fs, XP_016858389.1:p.Leu407fs, XP_024306836.1:p.Glu380fs, XP_024306836.1:p.Leu381fs, XP_047291029.1:p.Glu406fs, XP_047291029.1:p.Leu407fs, XP_047291030.1:p.Glu406fs, XP_047291030.1:p.Leu407fs, XP_047291028.1:p.Glu406fs, XP_047291028.1:p.Leu407fs, XP_047291020.1:p.Glu380fs, XP_047291020.1:p.Leu381fs, XP_047291019.1:p.Glu380fs, XP_047291019.1:p.Leu381fs, XP_047291021.1:p.Glu380fs, XP_047291021.1:p.Leu381fs, XP_047291026.1:p.Glu380fs, XP_047291026.1:p.Leu381fs, XP_047291037.1:p.Glu406fs, XP_047291037.1:p.Leu407fs, XP_047291022.1:p.Glu380fs, XP_047291022.1:p.Leu381fs, XP_047291027.1:p.Glu380fs, XP_047291027.1:p.Leu381fs, XP_047291032.1:p.Glu380fs, XP_047291032.1:p.Leu381fs, XP_047291031.1:p.Glu380fs, XP_047291031.1:p.Leu381fs, XP_047291038.1:p.Glu309fs, XP_047291038.1:p.Leu310fs

                              15.

                              rs369106087 has merged into rs3215779 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                A>-,AA [Show Flanks]
                                Chromosome:
                                1:148960745 (GRCh38)
                                1:144923729 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:148960744:AA:A,NC_000001.11:148960744:AA:AAA
                                Gene:
                                PDE4DIP (Varview)
                                Functional Consequence:
                                frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Clinical significance:
                                benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AA=0.02397/2177 (ALFA)
                                -=0.192938/23425 (ExAC)
                                -=0.351443/207 (Vietnamese)
                                T=0.571062/9571 (TOMMO)
                                T=0.814696/4080 (1000Genomes)
                                HGVS:
                                NC_000001.11:g.148960746del, NC_000001.11:g.148960746dup, NW_003871055.3:g.5776159del, NW_003871055.3:g.5776159dup, NG_027693.2:g.157571del, NG_027693.2:g.157571dup, NM_014644.7:c.729del, NM_014644.7:c.729dup, NM_014644.6:c.729del, NM_014644.6:c.729dup, NM_014644.5:c.729del, NM_014644.5:c.729dup, NM_001198834.5:c.729del, NM_001198834.5:c.729dup, NM_001198834.4:c.729del, NM_001198834.4:c.729dup, NM_001198834.3:c.729del, NM_001198834.3:c.729dup, NM_001350521.4:c.1140del, NM_001350521.4:c.1140dup, NM_001350521.3:c.1140del, NM_001350521.3:c.1140dup, NM_001350521.2:c.1140del, NM_001350521.2:c.1140dup, NM_001350521.1:c.1140del, NM_001350521.1:c.1140dup, NM_001198832.4:c.927del, NM_001198832.4:c.927dup, NM_001198832.3:c.927del, NM_001198832.3:c.927dup, NM_001198832.2:c.927del, NM_001198832.2:c.927dup, NM_001002812.4:c.729del, NM_001002812.4:c.729dup, NM_001002812.3:c.729del, NM_001002812.3:c.729dup, NM_001002812.2:c.729del, NM_001002812.2:c.729dup, NM_001350522.3:c.927del, NM_001350522.3:c.927dup, NM_001350522.2:c.927del, NM_001350522.2:c.927dup, NM_001350522.1:c.927del, NM_001350522.1:c.927dup, NM_001350523.3:c.927del, NM_001350523.3:c.927dup, NM_001350523.2:c.927del, NM_001350523.2:c.927dup, NM_001350523.1:c.927del, NM_001350523.1:c.927dup, NM_001002811.3:c.1218del, NM_001002811.3:c.1218dup, NM_001002811.2:c.1218del, NM_001002811.2:c.1218dup, NM_001350520.2:c.1218del, NM_001350520.2:c.1218dup, NM_001350520.1:c.1218del, NM_001350520.1:c.1218dup, NM_001377392.2:c.1140del, NM_001377392.2:c.1140dup, NM_001377392.1:c.1140del, NM_001377392.1:c.1140dup, NM_001377393.2:c.927del, NM_001377393.2:c.927dup, NM_001377393.1:c.927del, NM_001377393.1:c.927dup, NM_001395297.1:c.1218del, NM_001395297.1:c.1218dup, NM_001395315.1:c.1218del, NM_001395315.1:c.1218dup, NM_001395301.1:c.1218del, NM_001395301.1:c.1218dup, NM_001395299.1:c.1218del, NM_001395299.1:c.1218dup, NM_001395426.1:c.927del, NM_001395426.1:c.927dup, NM_001395298.1:c.1140del, NM_001395298.1:c.1140dup, NM_001395300.1:c.1029del, NM_001395300.1:c.1029dup, NM_001395317.1:c.1140del, NM_001395317.1:c.1140dup, NM_001395320.1:c.927del, NM_001395320.1:c.927dup, NM_001395305.1:c.927del, NM_001395305.1:c.927dup, NM_001395309.1:c.1218del, NM_001395309.1:c.1218dup, NM_001395304.1:c.927del, NM_001395304.1:c.927dup, NM_001395321.1:c.816del, NM_001395321.1:c.816dup, NM_001395303.1:c.1140del, NM_001395303.1:c.1140dup, NM_001395306.1:c.927del, NM_001395306.1:c.927dup, NM_001395302.1:c.1029del, NM_001395302.1:c.1029dup, NM_001395310.1:c.927del, NM_001395310.1:c.927dup, NM_001395308.1:c.927del, NM_001395308.1:c.927dup, NM_001395312.1:c.927del, NM_001395312.1:c.927dup, NM_001395313.1:c.816del, NM_001395313.1:c.816dup, NM_001395307.1:c.1140del, NM_001395307.1:c.1140dup, NM_001395311.1:c.927del, NM_001395311.1:c.927dup, NM_001395314.1:c.927del, NM_001395314.1:c.927dup, NM_001395323.1:c.90del, NM_001395323.1:c.90dup, NM_001395324.1:c.90del, NM_001395324.1:c.90dup, NM_001395319.1:c.879del, NM_001395319.1:c.879dup, NM_001395316.1:c.1140del, NM_001395316.1:c.1140dup, NM_001395318.1:c.927del, NM_001395318.1:c.927dup, NM_001395322.1:c.633del, NM_001395322.1:c.633dup, NC_000001.10:g.144923730del, NC_000001.10:g.144923730dup, XM_005272981.4:c.1218del, XM_005272981.4:c.1218dup, XM_005272981.3:c.1218del, XM_005272981.3:c.1218dup, XM_005272981.2:c.1218del, XM_005272981.2:c.1218dup, XM_005272981.1:c.1218del, XM_005272981.1:c.1218dup, XM_011510176.3:c.1140del, XM_011510176.3:c.1140dup, XM_011510176.2:c.1140del, XM_011510176.2:c.1140dup, XM_011510176.1:c.1140del, XM_011510176.1:c.1140dup, XM_017002881.2:c.1218del, XM_017002881.2:c.1218dup, XM_017002881.1:c.1218del, XM_017002881.1:c.1218dup, XM_017002882.2:c.1218del, XM_017002882.2:c.1218dup, XM_017002882.1:c.1218del, XM_017002882.1:c.1218dup, XM_017002884.2:c.1218del, XM_017002884.2:c.1218dup, XM_017002884.1:c.1218del, XM_017002884.1:c.1218dup, XM_017002879.2:c.1218del, XM_017002879.2:c.1218dup, XM_017002879.1:c.1218del, XM_017002879.1:c.1218dup, XM_017002883.2:c.1218del, XM_017002883.2:c.1218dup, XM_017002883.1:c.1218del, XM_017002883.1:c.1218dup, XM_017002885.2:c.1218del, XM_017002885.2:c.1218dup, XM_017002885.1:c.1218del, XM_017002885.1:c.1218dup, XM_017002886.2:c.1218del, XM_017002886.2:c.1218dup, XM_017002886.1:c.1218del, XM_017002886.1:c.1218dup, XM_017002896.2:c.1218del, XM_017002896.2:c.1218dup, XM_017002896.1:c.1218del, XM_017002896.1:c.1218dup, XM_017002897.2:c.1218del, XM_017002897.2:c.1218dup, XM_017002897.1:c.1218del, XM_017002897.1:c.1218dup, XM_017002890.2:c.1218del, XM_017002890.2:c.1218dup, XM_017002890.1:c.1218del, XM_017002890.1:c.1218dup, XM_017002901.2:c.1218del, XM_017002901.2:c.1218dup, XM_017002901.1:c.1218del, XM_017002901.1:c.1218dup, XM_017002900.2:c.1218del, XM_017002900.2:c.1218dup, XM_017002900.1:c.1218del, XM_017002900.1:c.1218dup, XM_024451068.2:c.1140del, XM_024451068.2:c.1140dup, XM_024451068.1:c.1140del, XM_024451068.1:c.1140dup, XM_047435073.1:c.1218del, XM_047435073.1:c.1218dup, XM_047435074.1:c.1218del, XM_047435074.1:c.1218dup, XM_047435072.1:c.1218del, XM_047435072.1:c.1218dup, XM_047435064.1:c.1140del, XM_047435064.1:c.1140dup, XM_047435063.1:c.1140del, XM_047435063.1:c.1140dup, XM_047435065.1:c.1140del, XM_047435065.1:c.1140dup, XM_047435070.1:c.1140del, XM_047435070.1:c.1140dup, XM_047435081.1:c.1218del, XM_047435081.1:c.1218dup, XM_047435066.1:c.1140del, XM_047435066.1:c.1140dup, XM_047435071.1:c.1140del, XM_047435071.1:c.1140dup, XM_047435076.1:c.1140del, XM_047435076.1:c.1140dup, XM_047435075.1:c.1140del, XM_047435075.1:c.1140dup, XM_047435082.1:c.927del, XM_047435082.1:c.927dup, NP_055459.5:p.Glu243fs, NP_055459.5:p.Leu244fs, NP_001185763.3:p.Glu243fs, NP_001185763.3:p.Leu244fs, NP_001337450.1:p.Glu380fs, NP_001337450.1:p.Leu381fs, NP_001185761.2:p.Glu309fs, NP_001185761.2:p.Leu310fs, NP_001002812.2:p.Glu243fs, NP_001002812.2:p.Leu244fs, NP_001337451.1:p.Glu309fs, NP_001337451.1:p.Leu310fs, NP_001337452.1:p.Glu309fs, NP_001337452.1:p.Leu310fs, NP_001002811.2:p.Glu406fs, NP_001002811.2:p.Leu407fs, NP_001337449.1:p.Glu406fs, NP_001337449.1:p.Leu407fs, NP_001364321.1:p.Glu380fs, NP_001364321.1:p.Leu381fs, NP_001364322.1:p.Glu309fs, NP_001364322.1:p.Leu310fs, NP_001382226.1:p.Glu406fs, NP_001382226.1:p.Leu407fs, NP_001382244.1:p.Glu406fs, NP_001382244.1:p.Leu407fs, NP_001382230.1:p.Glu406fs, NP_001382230.1:p.Leu407fs, NP_001382228.1:p.Glu406fs, NP_001382228.1:p.Leu407fs, NP_001382355.1:p.Glu309fs, NP_001382355.1:p.Leu310fs, NP_001382227.1:p.Glu380fs, NP_001382227.1:p.Leu381fs, NP_001382229.1:p.Glu343fs, NP_001382229.1:p.Leu344fs, NP_001382246.1:p.Glu380fs, NP_001382246.1:p.Leu381fs, NP_001382249.1:p.Glu309fs, NP_001382249.1:p.Leu310fs, NP_001382234.1:p.Glu309fs, NP_001382234.1:p.Leu310fs, NP_001382238.1:p.Glu406fs, NP_001382238.1:p.Leu407fs, NP_001382233.1:p.Glu309fs, NP_001382233.1:p.Leu310fs, NP_001382250.1:p.Glu272fs, NP_001382250.1:p.Leu273fs, NP_001382232.1:p.Glu380fs, NP_001382232.1:p.Leu381fs, NP_001382235.1:p.Glu309fs, NP_001382235.1:p.Leu310fs, NP_001382231.1:p.Glu343fs, NP_001382231.1:p.Leu344fs, NP_001382239.1:p.Glu309fs, NP_001382239.1:p.Leu310fs, NP_001382237.1:p.Glu309fs, NP_001382237.1:p.Leu310fs, NP_001382241.1:p.Glu309fs, NP_001382241.1:p.Leu310fs, NP_001382242.1:p.Glu272fs, NP_001382242.1:p.Leu273fs, NP_001382236.1:p.Glu380fs, NP_001382236.1:p.Leu381fs, NP_001382240.1:p.Glu309fs, NP_001382240.1:p.Leu310fs, NP_001382243.1:p.Glu309fs, NP_001382243.1:p.Leu310fs, NP_001382252.1:p.Glu30fs, NP_001382252.1:p.Leu31fs, NP_001382253.1:p.Glu30fs, NP_001382253.1:p.Leu31fs, NP_001382248.1:p.Glu293fs, NP_001382248.1:p.Leu294fs, NP_001382245.1:p.Glu380fs, NP_001382245.1:p.Leu381fs, NP_001382247.1:p.Glu309fs, NP_001382247.1:p.Leu310fs, NP_001382251.1:p.Glu211fs, NP_001382251.1:p.Leu212fs, XP_005273038.2:p.Glu406fs, XP_005273038.2:p.Leu407fs, XP_011508478.1:p.Glu380fs, XP_011508478.1:p.Leu381fs, XP_016858370.1:p.Glu406fs, XP_016858370.1:p.Leu407fs, XP_016858371.1:p.Glu406fs, XP_016858371.1:p.Leu407fs, XP_016858373.1:p.Glu406fs, XP_016858373.1:p.Leu407fs, XP_016858368.1:p.Glu406fs, XP_016858368.1:p.Leu407fs, XP_016858372.1:p.Glu406fs, XP_016858372.1:p.Leu407fs, XP_016858374.1:p.Glu406fs, XP_016858374.1:p.Leu407fs, XP_016858375.1:p.Glu406fs, XP_016858375.1:p.Leu407fs, XP_016858385.1:p.Glu406fs, XP_016858385.1:p.Leu407fs, XP_016858386.1:p.Glu406fs, XP_016858386.1:p.Leu407fs, XP_016858379.1:p.Glu406fs, XP_016858379.1:p.Leu407fs, XP_016858390.1:p.Glu406fs, XP_016858390.1:p.Leu407fs, XP_016858389.1:p.Glu406fs, XP_016858389.1:p.Leu407fs, XP_024306836.1:p.Glu380fs, XP_024306836.1:p.Leu381fs, XP_047291029.1:p.Glu406fs, XP_047291029.1:p.Leu407fs, XP_047291030.1:p.Glu406fs, XP_047291030.1:p.Leu407fs, XP_047291028.1:p.Glu406fs, XP_047291028.1:p.Leu407fs, XP_047291020.1:p.Glu380fs, XP_047291020.1:p.Leu381fs, XP_047291019.1:p.Glu380fs, XP_047291019.1:p.Leu381fs, XP_047291021.1:p.Glu380fs, XP_047291021.1:p.Leu381fs, XP_047291026.1:p.Glu380fs, XP_047291026.1:p.Leu381fs, XP_047291037.1:p.Glu406fs, XP_047291037.1:p.Leu407fs, XP_047291022.1:p.Glu380fs, XP_047291022.1:p.Leu381fs, XP_047291027.1:p.Glu380fs, XP_047291027.1:p.Leu381fs, XP_047291032.1:p.Glu380fs, XP_047291032.1:p.Leu381fs, XP_047291031.1:p.Glu380fs, XP_047291031.1:p.Leu381fs, XP_047291038.1:p.Glu309fs, XP_047291038.1:p.Leu310fs

                                16.

                                rs201183802 has merged into rs3215779 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  A>-,AA [Show Flanks]
                                  Chromosome:
                                  1:148960745 (GRCh38)
                                  1:144923729 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:148960744:AA:A,NC_000001.11:148960744:AA:AAA
                                  Gene:
                                  PDE4DIP (Varview)
                                  Functional Consequence:
                                  frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Clinical significance:
                                  benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AA=0.02397/2177 (ALFA)
                                  -=0.192938/23425 (ExAC)
                                  -=0.351443/207 (Vietnamese)
                                  T=0.571062/9571 (TOMMO)
                                  T=0.814696/4080 (1000Genomes)
                                  HGVS:
                                  NC_000001.11:g.148960746del, NC_000001.11:g.148960746dup, NW_003871055.3:g.5776159del, NW_003871055.3:g.5776159dup, NG_027693.2:g.157571del, NG_027693.2:g.157571dup, NM_014644.7:c.729del, NM_014644.7:c.729dup, NM_014644.6:c.729del, NM_014644.6:c.729dup, NM_014644.5:c.729del, NM_014644.5:c.729dup, NM_001198834.5:c.729del, NM_001198834.5:c.729dup, NM_001198834.4:c.729del, NM_001198834.4:c.729dup, NM_001198834.3:c.729del, NM_001198834.3:c.729dup, NM_001350521.4:c.1140del, NM_001350521.4:c.1140dup, NM_001350521.3:c.1140del, NM_001350521.3:c.1140dup, NM_001350521.2:c.1140del, NM_001350521.2:c.1140dup, NM_001350521.1:c.1140del, NM_001350521.1:c.1140dup, NM_001198832.4:c.927del, NM_001198832.4:c.927dup, NM_001198832.3:c.927del, NM_001198832.3:c.927dup, NM_001198832.2:c.927del, NM_001198832.2:c.927dup, NM_001002812.4:c.729del, NM_001002812.4:c.729dup, NM_001002812.3:c.729del, NM_001002812.3:c.729dup, NM_001002812.2:c.729del, NM_001002812.2:c.729dup, NM_001350522.3:c.927del, NM_001350522.3:c.927dup, NM_001350522.2:c.927del, NM_001350522.2:c.927dup, NM_001350522.1:c.927del, NM_001350522.1:c.927dup, NM_001350523.3:c.927del, NM_001350523.3:c.927dup, NM_001350523.2:c.927del, NM_001350523.2:c.927dup, NM_001350523.1:c.927del, NM_001350523.1:c.927dup, NM_001002811.3:c.1218del, NM_001002811.3:c.1218dup, NM_001002811.2:c.1218del, NM_001002811.2:c.1218dup, NM_001350520.2:c.1218del, NM_001350520.2:c.1218dup, NM_001350520.1:c.1218del, NM_001350520.1:c.1218dup, NM_001377392.2:c.1140del, NM_001377392.2:c.1140dup, NM_001377392.1:c.1140del, NM_001377392.1:c.1140dup, NM_001377393.2:c.927del, NM_001377393.2:c.927dup, NM_001377393.1:c.927del, NM_001377393.1:c.927dup, NM_001395297.1:c.1218del, NM_001395297.1:c.1218dup, NM_001395315.1:c.1218del, NM_001395315.1:c.1218dup, NM_001395301.1:c.1218del, NM_001395301.1:c.1218dup, NM_001395299.1:c.1218del, NM_001395299.1:c.1218dup, NM_001395426.1:c.927del, NM_001395426.1:c.927dup, NM_001395298.1:c.1140del, NM_001395298.1:c.1140dup, NM_001395300.1:c.1029del, NM_001395300.1:c.1029dup, NM_001395317.1:c.1140del, NM_001395317.1:c.1140dup, NM_001395320.1:c.927del, NM_001395320.1:c.927dup, NM_001395305.1:c.927del, NM_001395305.1:c.927dup, NM_001395309.1:c.1218del, NM_001395309.1:c.1218dup, NM_001395304.1:c.927del, NM_001395304.1:c.927dup, NM_001395321.1:c.816del, NM_001395321.1:c.816dup, NM_001395303.1:c.1140del, NM_001395303.1:c.1140dup, NM_001395306.1:c.927del, NM_001395306.1:c.927dup, NM_001395302.1:c.1029del, NM_001395302.1:c.1029dup, NM_001395310.1:c.927del, NM_001395310.1:c.927dup, NM_001395308.1:c.927del, NM_001395308.1:c.927dup, NM_001395312.1:c.927del, NM_001395312.1:c.927dup, NM_001395313.1:c.816del, NM_001395313.1:c.816dup, NM_001395307.1:c.1140del, NM_001395307.1:c.1140dup, NM_001395311.1:c.927del, NM_001395311.1:c.927dup, NM_001395314.1:c.927del, NM_001395314.1:c.927dup, NM_001395323.1:c.90del, NM_001395323.1:c.90dup, NM_001395324.1:c.90del, NM_001395324.1:c.90dup, NM_001395319.1:c.879del, NM_001395319.1:c.879dup, NM_001395316.1:c.1140del, NM_001395316.1:c.1140dup, NM_001395318.1:c.927del, NM_001395318.1:c.927dup, NM_001395322.1:c.633del, NM_001395322.1:c.633dup, NC_000001.10:g.144923730del, NC_000001.10:g.144923730dup, XM_005272981.4:c.1218del, XM_005272981.4:c.1218dup, XM_005272981.3:c.1218del, XM_005272981.3:c.1218dup, XM_005272981.2:c.1218del, XM_005272981.2:c.1218dup, XM_005272981.1:c.1218del, XM_005272981.1:c.1218dup, XM_011510176.3:c.1140del, XM_011510176.3:c.1140dup, XM_011510176.2:c.1140del, XM_011510176.2:c.1140dup, XM_011510176.1:c.1140del, XM_011510176.1:c.1140dup, XM_017002881.2:c.1218del, XM_017002881.2:c.1218dup, XM_017002881.1:c.1218del, XM_017002881.1:c.1218dup, XM_017002882.2:c.1218del, XM_017002882.2:c.1218dup, XM_017002882.1:c.1218del, XM_017002882.1:c.1218dup, XM_017002884.2:c.1218del, XM_017002884.2:c.1218dup, XM_017002884.1:c.1218del, XM_017002884.1:c.1218dup, XM_017002879.2:c.1218del, XM_017002879.2:c.1218dup, XM_017002879.1:c.1218del, XM_017002879.1:c.1218dup, XM_017002883.2:c.1218del, XM_017002883.2:c.1218dup, XM_017002883.1:c.1218del, XM_017002883.1:c.1218dup, XM_017002885.2:c.1218del, XM_017002885.2:c.1218dup, XM_017002885.1:c.1218del, XM_017002885.1:c.1218dup, XM_017002886.2:c.1218del, XM_017002886.2:c.1218dup, XM_017002886.1:c.1218del, XM_017002886.1:c.1218dup, XM_017002896.2:c.1218del, XM_017002896.2:c.1218dup, XM_017002896.1:c.1218del, XM_017002896.1:c.1218dup, XM_017002897.2:c.1218del, XM_017002897.2:c.1218dup, XM_017002897.1:c.1218del, XM_017002897.1:c.1218dup, XM_017002890.2:c.1218del, XM_017002890.2:c.1218dup, XM_017002890.1:c.1218del, XM_017002890.1:c.1218dup, XM_017002901.2:c.1218del, XM_017002901.2:c.1218dup, XM_017002901.1:c.1218del, XM_017002901.1:c.1218dup, XM_017002900.2:c.1218del, XM_017002900.2:c.1218dup, XM_017002900.1:c.1218del, XM_017002900.1:c.1218dup, XM_024451068.2:c.1140del, XM_024451068.2:c.1140dup, XM_024451068.1:c.1140del, XM_024451068.1:c.1140dup, XM_047435073.1:c.1218del, XM_047435073.1:c.1218dup, XM_047435074.1:c.1218del, XM_047435074.1:c.1218dup, XM_047435072.1:c.1218del, XM_047435072.1:c.1218dup, XM_047435064.1:c.1140del, XM_047435064.1:c.1140dup, XM_047435063.1:c.1140del, XM_047435063.1:c.1140dup, XM_047435065.1:c.1140del, XM_047435065.1:c.1140dup, XM_047435070.1:c.1140del, XM_047435070.1:c.1140dup, XM_047435081.1:c.1218del, XM_047435081.1:c.1218dup, XM_047435066.1:c.1140del, XM_047435066.1:c.1140dup, XM_047435071.1:c.1140del, XM_047435071.1:c.1140dup, XM_047435076.1:c.1140del, XM_047435076.1:c.1140dup, XM_047435075.1:c.1140del, XM_047435075.1:c.1140dup, XM_047435082.1:c.927del, XM_047435082.1:c.927dup, NP_055459.5:p.Glu243fs, NP_055459.5:p.Leu244fs, NP_001185763.3:p.Glu243fs, NP_001185763.3:p.Leu244fs, NP_001337450.1:p.Glu380fs, NP_001337450.1:p.Leu381fs, NP_001185761.2:p.Glu309fs, NP_001185761.2:p.Leu310fs, NP_001002812.2:p.Glu243fs, NP_001002812.2:p.Leu244fs, NP_001337451.1:p.Glu309fs, NP_001337451.1:p.Leu310fs, NP_001337452.1:p.Glu309fs, NP_001337452.1:p.Leu310fs, NP_001002811.2:p.Glu406fs, NP_001002811.2:p.Leu407fs, NP_001337449.1:p.Glu406fs, NP_001337449.1:p.Leu407fs, NP_001364321.1:p.Glu380fs, NP_001364321.1:p.Leu381fs, NP_001364322.1:p.Glu309fs, NP_001364322.1:p.Leu310fs, NP_001382226.1:p.Glu406fs, NP_001382226.1:p.Leu407fs, NP_001382244.1:p.Glu406fs, NP_001382244.1:p.Leu407fs, NP_001382230.1:p.Glu406fs, NP_001382230.1:p.Leu407fs, NP_001382228.1:p.Glu406fs, NP_001382228.1:p.Leu407fs, NP_001382355.1:p.Glu309fs, NP_001382355.1:p.Leu310fs, NP_001382227.1:p.Glu380fs, NP_001382227.1:p.Leu381fs, NP_001382229.1:p.Glu343fs, NP_001382229.1:p.Leu344fs, NP_001382246.1:p.Glu380fs, NP_001382246.1:p.Leu381fs, NP_001382249.1:p.Glu309fs, NP_001382249.1:p.Leu310fs, NP_001382234.1:p.Glu309fs, NP_001382234.1:p.Leu310fs, NP_001382238.1:p.Glu406fs, NP_001382238.1:p.Leu407fs, NP_001382233.1:p.Glu309fs, NP_001382233.1:p.Leu310fs, NP_001382250.1:p.Glu272fs, NP_001382250.1:p.Leu273fs, NP_001382232.1:p.Glu380fs, NP_001382232.1:p.Leu381fs, NP_001382235.1:p.Glu309fs, NP_001382235.1:p.Leu310fs, NP_001382231.1:p.Glu343fs, NP_001382231.1:p.Leu344fs, NP_001382239.1:p.Glu309fs, NP_001382239.1:p.Leu310fs, NP_001382237.1:p.Glu309fs, NP_001382237.1:p.Leu310fs, NP_001382241.1:p.Glu309fs, NP_001382241.1:p.Leu310fs, NP_001382242.1:p.Glu272fs, NP_001382242.1:p.Leu273fs, NP_001382236.1:p.Glu380fs, NP_001382236.1:p.Leu381fs, NP_001382240.1:p.Glu309fs, NP_001382240.1:p.Leu310fs, NP_001382243.1:p.Glu309fs, NP_001382243.1:p.Leu310fs, NP_001382252.1:p.Glu30fs, NP_001382252.1:p.Leu31fs, NP_001382253.1:p.Glu30fs, NP_001382253.1:p.Leu31fs, NP_001382248.1:p.Glu293fs, NP_001382248.1:p.Leu294fs, NP_001382245.1:p.Glu380fs, NP_001382245.1:p.Leu381fs, NP_001382247.1:p.Glu309fs, NP_001382247.1:p.Leu310fs, NP_001382251.1:p.Glu211fs, NP_001382251.1:p.Leu212fs, XP_005273038.2:p.Glu406fs, XP_005273038.2:p.Leu407fs, XP_011508478.1:p.Glu380fs, XP_011508478.1:p.Leu381fs, XP_016858370.1:p.Glu406fs, XP_016858370.1:p.Leu407fs, XP_016858371.1:p.Glu406fs, XP_016858371.1:p.Leu407fs, XP_016858373.1:p.Glu406fs, XP_016858373.1:p.Leu407fs, XP_016858368.1:p.Glu406fs, XP_016858368.1:p.Leu407fs, XP_016858372.1:p.Glu406fs, XP_016858372.1:p.Leu407fs, XP_016858374.1:p.Glu406fs, XP_016858374.1:p.Leu407fs, XP_016858375.1:p.Glu406fs, XP_016858375.1:p.Leu407fs, XP_016858385.1:p.Glu406fs, XP_016858385.1:p.Leu407fs, XP_016858386.1:p.Glu406fs, XP_016858386.1:p.Leu407fs, XP_016858379.1:p.Glu406fs, XP_016858379.1:p.Leu407fs, XP_016858390.1:p.Glu406fs, XP_016858390.1:p.Leu407fs, XP_016858389.1:p.Glu406fs, XP_016858389.1:p.Leu407fs, XP_024306836.1:p.Glu380fs, XP_024306836.1:p.Leu381fs, XP_047291029.1:p.Glu406fs, XP_047291029.1:p.Leu407fs, XP_047291030.1:p.Glu406fs, XP_047291030.1:p.Leu407fs, XP_047291028.1:p.Glu406fs, XP_047291028.1:p.Leu407fs, XP_047291020.1:p.Glu380fs, XP_047291020.1:p.Leu381fs, XP_047291019.1:p.Glu380fs, XP_047291019.1:p.Leu381fs, XP_047291021.1:p.Glu380fs, XP_047291021.1:p.Leu381fs, XP_047291026.1:p.Glu380fs, XP_047291026.1:p.Leu381fs, XP_047291037.1:p.Glu406fs, XP_047291037.1:p.Leu407fs, XP_047291022.1:p.Glu380fs, XP_047291022.1:p.Leu381fs, XP_047291027.1:p.Glu380fs, XP_047291027.1:p.Leu381fs, XP_047291032.1:p.Glu380fs, XP_047291032.1:p.Leu381fs, XP_047291031.1:p.Glu380fs, XP_047291031.1:p.Leu381fs, XP_047291038.1:p.Glu309fs, XP_047291038.1:p.Leu310fs

                                  17.

                                  rs3733 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    1:149032937 (GRCh38)
                                    1:144851506 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:149032936:G:C
                                    Gene:
                                    PDE4DIP (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.099406/1506 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000035/1 (TOMMO)
                                    C=0.085666/251 (KOREAN)
                                    C=0.412037/89 (Qatari)
                                    C=0.5/121 (SGDP_PRJ)
                                    C=0.5/15 (Siberian)
                                    HGVS:
                                    NC_000001.11:g.149032937G>C, NW_003871055.3:g.5848350G>C, NG_027693.2:g.229762G>C, NM_014644.7:c.*952G>C, NM_014644.6:c.*952G>C, NM_014644.5:c.*952G>C, NM_001198834.5:c.*848G>C, NM_001198834.4:c.*848G>C, NM_001198834.3:c.*848G>C, NM_001350521.4:c.*848G>C, NM_001350521.3:c.*848G>C, NM_001350521.2:c.*848G>C, NM_001350521.1:c.*848G>C, NM_001198832.4:c.*952G>C, NM_001198832.3:c.*952G>C, NM_001198832.2:c.*952G>C, NM_001350522.3:c.*848G>C, NM_001350522.2:c.*848G>C, NM_001350522.1:c.*848G>C, NM_001350523.3:c.*848G>C, NM_001350523.2:c.*848G>C, NM_001350523.1:c.*848G>C, NM_001350520.2:c.*952G>C, NM_001350520.1:c.*952G>C, NM_001377392.2:c.*952G>C, NM_001377392.1:c.*952G>C, NM_001377393.2:c.*952G>C, NM_001377393.1:c.*952G>C, NM_001395297.1:c.*848G>C, NM_001395301.1:c.*952G>C, NM_001395299.1:c.*848G>C, NM_001395426.1:c.*952G>C, NM_001395298.1:c.*952G>C, NM_001395300.1:c.*952G>C, NM_001395305.1:c.*952G>C, NM_001395309.1:c.*952G>C, NM_001395304.1:c.*848G>C, NM_001395303.1:c.*952G>C, NM_001395306.1:c.*848G>C, NM_001395302.1:c.*848G>C, NM_001395310.1:c.*952G>C, NM_001395308.1:c.*848G>C, NM_001395312.1:c.*952G>C, NM_001395313.1:c.*952G>C, NM_001395307.1:c.*952G>C, NM_001395311.1:c.*848G>C, NM_001395314.1:c.*848G>C, NC_000001.10:g.144851506C>G, XM_005272981.4:c.*952G>C, XM_005272981.3:c.*952G>C, XM_005272981.2:c.*952G>C, XM_005272981.1:c.*952G>C, XM_011510176.3:c.*952G>C, XM_011510176.2:c.*952G>C, XM_011510176.1:c.*952G>C, XM_017002881.2:c.*952G>C, XM_017002881.1:c.*952G>C, XM_017002882.2:c.*952G>C, XM_017002882.1:c.*952G>C, XM_017002884.2:c.*952G>C, XM_017002884.1:c.*952G>C, XM_017002879.2:c.*848G>C, XM_017002879.1:c.*848G>C, XM_017002883.2:c.*848G>C, XM_017002883.1:c.*848G>C, XM_017002885.2:c.*952G>C, XM_017002885.1:c.*952G>C, XM_017002886.2:c.*952G>C, XM_017002886.1:c.*952G>C, XM_017002896.2:c.*952G>C, XM_017002896.1:c.*952G>C, XM_017002897.2:c.*952G>C, XM_017002897.1:c.*952G>C, XM_017002890.2:c.*848G>C, XM_017002890.1:c.*848G>C, XM_017002901.2:c.*952G>C, XM_017002901.1:c.*952G>C, XM_017002900.2:c.*848G>C, XM_017002900.1:c.*848G>C, XM_024451068.2:c.*848G>C, XM_024451068.1:c.*848G>C, XM_047435073.1:c.*952G>C, XM_047435074.1:c.*952G>C, XM_047435072.1:c.*848G>C, XM_047435064.1:c.*952G>C, XM_047435063.1:c.*848G>C, XM_047435065.1:c.*848G>C, XM_047435070.1:c.*952G>C, XM_047435081.1:c.*952G>C, XM_047435066.1:c.*848G>C, XM_047435071.1:c.*848G>C, XM_047435076.1:c.*952G>C, XM_047435075.1:c.*848G>C, XM_047435082.1:c.*952G>C

                                    18.

                                    rs3734 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      1:149032900 (GRCh38)
                                      1:144851543 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:149032899:A:G,NC_000001.11:149032899:A:T
                                      Gene:
                                      PDE4DIP (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.115968/1377 (ALFA)
                                      T=0.038824/651 (TOMMO)
                                      T=0.064682/189 (KOREAN)
                                      T=0.074236/136 (Korea1K)
                                      T=0.180556/39 (Qatari)
                                      T=0.198314/1270 (1000Genomes)
                                      T=0.232816/32197 (GnomAD)
                                      T=0.5/11 (Siberian)
                                      T=0.5/87 (SGDP_PRJ)
                                      HGVS:
                                      NC_000001.11:g.149032900A>G, NC_000001.11:g.149032900A>T, NW_003871055.3:g.5848313A>G, NW_003871055.3:g.5848313A>T, NG_027693.2:g.229725A>G, NG_027693.2:g.229725A>T, NM_014644.7:c.*915A>G, NM_014644.7:c.*915A>T, NM_014644.6:c.*915A>G, NM_014644.6:c.*915A>T, NM_014644.5:c.*915A>G, NM_014644.5:c.*915A>T, NM_001198834.5:c.*811A>G, NM_001198834.5:c.*811A>T, NM_001198834.4:c.*811A>G, NM_001198834.4:c.*811A>T, NM_001198834.3:c.*811A>G, NM_001198834.3:c.*811A>T, NM_001350521.4:c.*811A>G, NM_001350521.4:c.*811A>T, NM_001350521.3:c.*811A>G, NM_001350521.3:c.*811A>T, NM_001350521.2:c.*811A>G, NM_001350521.2:c.*811A>T, NM_001350521.1:c.*811A>G, NM_001350521.1:c.*811A>T, NM_001198832.4:c.*915A>G, NM_001198832.4:c.*915A>T, NM_001198832.3:c.*915A>G, NM_001198832.3:c.*915A>T, NM_001198832.2:c.*915A>G, NM_001198832.2:c.*915A>T, NM_001350522.3:c.*811A>G, NM_001350522.3:c.*811A>T, NM_001350522.2:c.*811A>G, NM_001350522.2:c.*811A>T, NM_001350522.1:c.*811A>G, NM_001350522.1:c.*811A>T, NM_001350523.3:c.*811A>G, NM_001350523.3:c.*811A>T, NM_001350523.2:c.*811A>G, NM_001350523.2:c.*811A>T, NM_001350523.1:c.*811A>G, NM_001350523.1:c.*811A>T, NM_001350520.2:c.*915A>G, NM_001350520.2:c.*915A>T, NM_001350520.1:c.*915A>G, NM_001350520.1:c.*915A>T, NM_001377392.2:c.*915A>G, NM_001377392.2:c.*915A>T, NM_001377392.1:c.*915A>G, NM_001377392.1:c.*915A>T, NM_001377393.2:c.*915A>G, NM_001377393.2:c.*915A>T, NM_001377393.1:c.*915A>G, NM_001377393.1:c.*915A>T, NM_001395297.1:c.*811A>G, NM_001395297.1:c.*811A>T, NM_001395301.1:c.*915A>G, NM_001395301.1:c.*915A>T, NM_001395299.1:c.*811A>G, NM_001395299.1:c.*811A>T, NM_001395426.1:c.*915A>G, NM_001395426.1:c.*915A>T, NM_001395298.1:c.*915A>G, NM_001395298.1:c.*915A>T, NM_001395300.1:c.*915A>G, NM_001395300.1:c.*915A>T, NM_001395305.1:c.*915A>G, NM_001395305.1:c.*915A>T, NM_001395309.1:c.*915A>G, NM_001395309.1:c.*915A>T, NM_001395304.1:c.*811A>G, NM_001395304.1:c.*811A>T, NM_001395303.1:c.*915A>G, NM_001395303.1:c.*915A>T, NM_001395306.1:c.*811A>G, NM_001395306.1:c.*811A>T, NM_001395302.1:c.*811A>G, NM_001395302.1:c.*811A>T, NM_001395310.1:c.*915A>G, NM_001395310.1:c.*915A>T, NM_001395308.1:c.*811A>G, NM_001395308.1:c.*811A>T, NM_001395312.1:c.*915A>G, NM_001395312.1:c.*915A>T, NM_001395313.1:c.*915A>G, NM_001395313.1:c.*915A>T, NM_001395307.1:c.*915A>G, NM_001395307.1:c.*915A>T, NM_001395311.1:c.*811A>G, NM_001395311.1:c.*811A>T, NM_001395314.1:c.*811A>G, NM_001395314.1:c.*811A>T, NC_000001.10:g.144851543T>C, NC_000001.10:g.144851543T>A, XM_005272981.4:c.*915A>G, XM_005272981.4:c.*915A>T, XM_005272981.3:c.*915A>G, XM_005272981.3:c.*915A>T, XM_005272981.2:c.*915A>G, XM_005272981.2:c.*915A>T, XM_005272981.1:c.*915A>G, XM_005272981.1:c.*915A>T, XM_011510176.3:c.*915A>G, XM_011510176.3:c.*915A>T, XM_011510176.2:c.*915A>G, XM_011510176.2:c.*915A>T, XM_011510176.1:c.*915A>G, XM_011510176.1:c.*915A>T, XM_017002881.2:c.*915A>G, XM_017002881.2:c.*915A>T, XM_017002881.1:c.*915A>G, XM_017002881.1:c.*915A>T, XM_017002882.2:c.*915A>G, XM_017002882.2:c.*915A>T, XM_017002882.1:c.*915A>G, XM_017002882.1:c.*915A>T, XM_017002884.2:c.*915A>G, XM_017002884.2:c.*915A>T, XM_017002884.1:c.*915A>G, XM_017002884.1:c.*915A>T, XM_017002879.2:c.*811A>G, XM_017002879.2:c.*811A>T, XM_017002879.1:c.*811A>G, XM_017002879.1:c.*811A>T, XM_017002883.2:c.*811A>G, XM_017002883.2:c.*811A>T, XM_017002883.1:c.*811A>G, XM_017002883.1:c.*811A>T, XM_017002885.2:c.*915A>G, XM_017002885.2:c.*915A>T, XM_017002885.1:c.*915A>G, XM_017002885.1:c.*915A>T, XM_017002886.2:c.*915A>G, XM_017002886.2:c.*915A>T, XM_017002886.1:c.*915A>G, XM_017002886.1:c.*915A>T, XM_017002896.2:c.*915A>G, XM_017002896.2:c.*915A>T, XM_017002896.1:c.*915A>G, XM_017002896.1:c.*915A>T, XM_017002897.2:c.*915A>G, XM_017002897.2:c.*915A>T, XM_017002897.1:c.*915A>G, XM_017002897.1:c.*915A>T, XM_017002890.2:c.*811A>G, XM_017002890.2:c.*811A>T, XM_017002890.1:c.*811A>G, XM_017002890.1:c.*811A>T, XM_017002901.2:c.*915A>G, XM_017002901.2:c.*915A>T, XM_017002901.1:c.*915A>G, XM_017002901.1:c.*915A>T, XM_017002900.2:c.*811A>G, XM_017002900.2:c.*811A>T, XM_017002900.1:c.*811A>G, XM_017002900.1:c.*811A>T, XM_024451068.2:c.*811A>G, XM_024451068.2:c.*811A>T, XM_024451068.1:c.*811A>G, XM_024451068.1:c.*811A>T, XM_047435073.1:c.*915A>G, XM_047435073.1:c.*915A>T, XM_047435074.1:c.*915A>G, XM_047435074.1:c.*915A>T, XM_047435072.1:c.*811A>G, XM_047435072.1:c.*811A>T, XM_047435064.1:c.*915A>G, XM_047435064.1:c.*915A>T, XM_047435063.1:c.*811A>G, XM_047435063.1:c.*811A>T, XM_047435065.1:c.*811A>G, XM_047435065.1:c.*811A>T, XM_047435070.1:c.*915A>G, XM_047435070.1:c.*915A>T, XM_047435081.1:c.*915A>G, XM_047435081.1:c.*915A>T, XM_047435066.1:c.*811A>G, XM_047435066.1:c.*811A>T, XM_047435071.1:c.*811A>G, XM_047435071.1:c.*811A>T, XM_047435076.1:c.*915A>G, XM_047435076.1:c.*915A>T, XM_047435075.1:c.*811A>G, XM_047435075.1:c.*811A>T, XM_047435082.1:c.*915A>G, XM_047435082.1:c.*915A>T

                                      19.

                                      rs3736 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        1:149032889 (GRCh38)
                                        1:144851554 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:149032888:A:G,NC_000001.11:149032888:A:T
                                        Gene:
                                        PDE4DIP (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.207127/3836 (ALFA)
                                        T=0.022402/375 (TOMMO)
                                        T=0.037201/109 (KOREAN)
                                        T=0.148148/32 (Qatari)
                                        T=0.16599/1063 (1000Genomes)
                                        T=0.203616/53895 (TOPMED)
                                        T=0.204928/28510 (GnomAD)
                                        T=0.5/82 (SGDP_PRJ)
                                        T=0.5/9 (Siberian)
                                        HGVS:
                                        NC_000001.11:g.149032889A>G, NC_000001.11:g.149032889A>T, NW_003871055.3:g.5848302A>G, NW_003871055.3:g.5848302A>T, NG_027693.2:g.229714A>G, NG_027693.2:g.229714A>T, NM_014644.7:c.*904A>G, NM_014644.7:c.*904A>T, NM_014644.6:c.*904A>G, NM_014644.6:c.*904A>T, NM_014644.5:c.*904A>G, NM_014644.5:c.*904A>T, NM_001198834.5:c.*800A>G, NM_001198834.5:c.*800A>T, NM_001198834.4:c.*800A>G, NM_001198834.4:c.*800A>T, NM_001198834.3:c.*800A>G, NM_001198834.3:c.*800A>T, NM_001350521.4:c.*800A>G, NM_001350521.4:c.*800A>T, NM_001350521.3:c.*800A>G, NM_001350521.3:c.*800A>T, NM_001350521.2:c.*800A>G, NM_001350521.2:c.*800A>T, NM_001350521.1:c.*800A>G, NM_001350521.1:c.*800A>T, NM_001198832.4:c.*904A>G, NM_001198832.4:c.*904A>T, NM_001198832.3:c.*904A>G, NM_001198832.3:c.*904A>T, NM_001198832.2:c.*904A>G, NM_001198832.2:c.*904A>T, NM_001350522.3:c.*800A>G, NM_001350522.3:c.*800A>T, NM_001350522.2:c.*800A>G, NM_001350522.2:c.*800A>T, NM_001350522.1:c.*800A>G, NM_001350522.1:c.*800A>T, NM_001350523.3:c.*800A>G, NM_001350523.3:c.*800A>T, NM_001350523.2:c.*800A>G, NM_001350523.2:c.*800A>T, NM_001350523.1:c.*800A>G, NM_001350523.1:c.*800A>T, NM_001350520.2:c.*904A>G, NM_001350520.2:c.*904A>T, NM_001350520.1:c.*904A>G, NM_001350520.1:c.*904A>T, NM_001377392.2:c.*904A>G, NM_001377392.2:c.*904A>T, NM_001377392.1:c.*904A>G, NM_001377392.1:c.*904A>T, NM_001377393.2:c.*904A>G, NM_001377393.2:c.*904A>T, NM_001377393.1:c.*904A>G, NM_001377393.1:c.*904A>T, NM_001395297.1:c.*800A>G, NM_001395297.1:c.*800A>T, NM_001395301.1:c.*904A>G, NM_001395301.1:c.*904A>T, NM_001395299.1:c.*800A>G, NM_001395299.1:c.*800A>T, NM_001395426.1:c.*904A>G, NM_001395426.1:c.*904A>T, NM_001395298.1:c.*904A>G, NM_001395298.1:c.*904A>T, NM_001395300.1:c.*904A>G, NM_001395300.1:c.*904A>T, NM_001395305.1:c.*904A>G, NM_001395305.1:c.*904A>T, NM_001395309.1:c.*904A>G, NM_001395309.1:c.*904A>T, NM_001395304.1:c.*800A>G, NM_001395304.1:c.*800A>T, NM_001395303.1:c.*904A>G, NM_001395303.1:c.*904A>T, NM_001395306.1:c.*800A>G, NM_001395306.1:c.*800A>T, NM_001395302.1:c.*800A>G, NM_001395302.1:c.*800A>T, NM_001395310.1:c.*904A>G, NM_001395310.1:c.*904A>T, NM_001395308.1:c.*800A>G, NM_001395308.1:c.*800A>T, NM_001395312.1:c.*904A>G, NM_001395312.1:c.*904A>T, NM_001395313.1:c.*904A>G, NM_001395313.1:c.*904A>T, NM_001395307.1:c.*904A>G, NM_001395307.1:c.*904A>T, NM_001395311.1:c.*800A>G, NM_001395311.1:c.*800A>T, NM_001395314.1:c.*800A>G, NM_001395314.1:c.*800A>T, NC_000001.10:g.144851554T>C, NC_000001.10:g.144851554T>A, XM_005272981.4:c.*904A>G, XM_005272981.4:c.*904A>T, XM_005272981.3:c.*904A>G, XM_005272981.3:c.*904A>T, XM_005272981.2:c.*904A>G, XM_005272981.2:c.*904A>T, XM_005272981.1:c.*904A>G, XM_005272981.1:c.*904A>T, XM_011510176.3:c.*904A>G, XM_011510176.3:c.*904A>T, XM_011510176.2:c.*904A>G, XM_011510176.2:c.*904A>T, XM_011510176.1:c.*904A>G, XM_011510176.1:c.*904A>T, XM_017002881.2:c.*904A>G, XM_017002881.2:c.*904A>T, XM_017002881.1:c.*904A>G, XM_017002881.1:c.*904A>T, XM_017002882.2:c.*904A>G, XM_017002882.2:c.*904A>T, XM_017002882.1:c.*904A>G, XM_017002882.1:c.*904A>T, XM_017002884.2:c.*904A>G, XM_017002884.2:c.*904A>T, XM_017002884.1:c.*904A>G, XM_017002884.1:c.*904A>T, XM_017002879.2:c.*800A>G, XM_017002879.2:c.*800A>T, XM_017002879.1:c.*800A>G, XM_017002879.1:c.*800A>T, XM_017002883.2:c.*800A>G, XM_017002883.2:c.*800A>T, XM_017002883.1:c.*800A>G, XM_017002883.1:c.*800A>T, XM_017002885.2:c.*904A>G, XM_017002885.2:c.*904A>T, XM_017002885.1:c.*904A>G, XM_017002885.1:c.*904A>T, XM_017002886.2:c.*904A>G, XM_017002886.2:c.*904A>T, XM_017002886.1:c.*904A>G, XM_017002886.1:c.*904A>T, XM_017002896.2:c.*904A>G, XM_017002896.2:c.*904A>T, XM_017002896.1:c.*904A>G, XM_017002896.1:c.*904A>T, XM_017002897.2:c.*904A>G, XM_017002897.2:c.*904A>T, XM_017002897.1:c.*904A>G, XM_017002897.1:c.*904A>T, XM_017002890.2:c.*800A>G, XM_017002890.2:c.*800A>T, XM_017002890.1:c.*800A>G, XM_017002890.1:c.*800A>T, XM_017002901.2:c.*904A>G, XM_017002901.2:c.*904A>T, XM_017002901.1:c.*904A>G, XM_017002901.1:c.*904A>T, XM_017002900.2:c.*800A>G, XM_017002900.2:c.*800A>T, XM_017002900.1:c.*800A>G, XM_017002900.1:c.*800A>T, XM_024451068.2:c.*800A>G, XM_024451068.2:c.*800A>T, XM_024451068.1:c.*800A>G, XM_024451068.1:c.*800A>T, XM_047435073.1:c.*904A>G, XM_047435073.1:c.*904A>T, XM_047435074.1:c.*904A>G, XM_047435074.1:c.*904A>T, XM_047435072.1:c.*800A>G, XM_047435072.1:c.*800A>T, XM_047435064.1:c.*904A>G, XM_047435064.1:c.*904A>T, XM_047435063.1:c.*800A>G, XM_047435063.1:c.*800A>T, XM_047435065.1:c.*800A>G, XM_047435065.1:c.*800A>T, XM_047435070.1:c.*904A>G, XM_047435070.1:c.*904A>T, XM_047435081.1:c.*904A>G, XM_047435081.1:c.*904A>T, XM_047435066.1:c.*800A>G, XM_047435066.1:c.*800A>T, XM_047435071.1:c.*800A>G, XM_047435071.1:c.*800A>T, XM_047435076.1:c.*904A>G, XM_047435076.1:c.*904A>T, XM_047435075.1:c.*800A>G, XM_047435075.1:c.*800A>T, XM_047435082.1:c.*904A>G, XM_047435082.1:c.*904A>T

                                        20.

                                        rs8947 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C,G [Show Flanks]
                                          Chromosome:
                                          1:149032959 (GRCh38)
                                          1:144851484 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:149032958:T:A,NC_000001.11:149032958:T:C,NC_000001.11:149032958:T:G
                                          Gene:
                                          PDE4DIP (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.314815/68 (Qatari)
                                          C=0.371758/50174 (GnomAD)
                                          G=0.403754/1183 (KOREAN)
                                          C=0.416302/2666 (1000Genomes)
                                          T=0.436615/7318 (TOMMO)
                                          T=0.45082/825 (Korea1K)
                                          A=0.5/10 (Siberian)
                                          A=0.5/190 (SGDP_PRJ)
                                          HGVS:
                                          NC_000001.11:g.149032959T>A, NC_000001.11:g.149032959T>C, NC_000001.11:g.149032959T>G, NW_003871055.3:g.5848372T>A, NW_003871055.3:g.5848372T>C, NW_003871055.3:g.5848372T>G, NG_027693.2:g.229784T>A, NG_027693.2:g.229784T>C, NG_027693.2:g.229784T>G, NM_014644.7:c.*974T>A, NM_014644.7:c.*974T>C, NM_014644.7:c.*974T>G, NM_014644.6:c.*974T>A, NM_014644.6:c.*974T>C, NM_014644.6:c.*974T>G, NM_014644.5:c.*974T>A, NM_014644.5:c.*974T>C, NM_014644.5:c.*974T>G, NM_001198834.5:c.*870T>A, NM_001198834.5:c.*870T>C, NM_001198834.5:c.*870T>G, NM_001198834.4:c.*870T>A, NM_001198834.4:c.*870T>C, NM_001198834.4:c.*870T>G, NM_001198834.3:c.*870T>A, NM_001198834.3:c.*870T>C, NM_001198834.3:c.*870T>G, NM_001350521.4:c.*870T>A, NM_001350521.4:c.*870T>C, NM_001350521.4:c.*870T>G, NM_001350521.3:c.*870T>A, NM_001350521.3:c.*870T>C, NM_001350521.3:c.*870T>G, NM_001350521.2:c.*870T>A, NM_001350521.2:c.*870T>C, NM_001350521.2:c.*870T>G, NM_001350521.1:c.*870T>A, NM_001350521.1:c.*870T>C, NM_001350521.1:c.*870T>G, NM_001198832.4:c.*974T>A, NM_001198832.4:c.*974T>C, NM_001198832.4:c.*974T>G, NM_001198832.3:c.*974T>A, NM_001198832.3:c.*974T>C, NM_001198832.3:c.*974T>G, NM_001198832.2:c.*974T>A, NM_001198832.2:c.*974T>C, NM_001198832.2:c.*974T>G, NM_001350522.3:c.*870T>A, NM_001350522.3:c.*870T>C, NM_001350522.3:c.*870T>G, NM_001350522.2:c.*870T>A, NM_001350522.2:c.*870T>C, NM_001350522.2:c.*870T>G, NM_001350522.1:c.*870T>A, NM_001350522.1:c.*870T>C, NM_001350522.1:c.*870T>G, NM_001350523.3:c.*870T>A, NM_001350523.3:c.*870T>C, NM_001350523.3:c.*870T>G, NM_001350523.2:c.*870T>A, NM_001350523.2:c.*870T>C, NM_001350523.2:c.*870T>G, NM_001350523.1:c.*870T>A, NM_001350523.1:c.*870T>C, NM_001350523.1:c.*870T>G, NM_001350520.2:c.*974T>A, NM_001350520.2:c.*974T>C, NM_001350520.2:c.*974T>G, NM_001350520.1:c.*974T>A, NM_001350520.1:c.*974T>C, NM_001350520.1:c.*974T>G, NM_001377392.2:c.*974T>A, NM_001377392.2:c.*974T>C, NM_001377392.2:c.*974T>G, NM_001377392.1:c.*974T>A, NM_001377392.1:c.*974T>C, NM_001377392.1:c.*974T>G, NM_001377393.2:c.*974T>A, NM_001377393.2:c.*974T>C, NM_001377393.2:c.*974T>G, NM_001377393.1:c.*974T>A, NM_001377393.1:c.*974T>C, NM_001377393.1:c.*974T>G, NM_001395297.1:c.*870T>A, NM_001395297.1:c.*870T>C, NM_001395297.1:c.*870T>G, NM_001395301.1:c.*974T>A, NM_001395301.1:c.*974T>C, NM_001395301.1:c.*974T>G, NM_001395299.1:c.*870T>A, NM_001395299.1:c.*870T>C, NM_001395299.1:c.*870T>G, NM_001395426.1:c.*974T>A, NM_001395426.1:c.*974T>C, NM_001395426.1:c.*974T>G, NM_001395298.1:c.*974T>A, NM_001395298.1:c.*974T>C, NM_001395298.1:c.*974T>G, NM_001395300.1:c.*974T>A, NM_001395300.1:c.*974T>C, NM_001395300.1:c.*974T>G, NM_001395305.1:c.*974T>A, NM_001395305.1:c.*974T>C, NM_001395305.1:c.*974T>G, NM_001395309.1:c.*974T>A, NM_001395309.1:c.*974T>C, NM_001395309.1:c.*974T>G, NM_001395304.1:c.*870T>A, NM_001395304.1:c.*870T>C, NM_001395304.1:c.*870T>G, NM_001395303.1:c.*974T>A, NM_001395303.1:c.*974T>C, NM_001395303.1:c.*974T>G, NM_001395306.1:c.*870T>A, NM_001395306.1:c.*870T>C, NM_001395306.1:c.*870T>G, NM_001395302.1:c.*870T>A, NM_001395302.1:c.*870T>C, NM_001395302.1:c.*870T>G, NM_001395310.1:c.*974T>A, NM_001395310.1:c.*974T>C, NM_001395310.1:c.*974T>G, NM_001395308.1:c.*870T>A, NM_001395308.1:c.*870T>C, NM_001395308.1:c.*870T>G, NM_001395312.1:c.*974T>A, NM_001395312.1:c.*974T>C, NM_001395312.1:c.*974T>G, NM_001395313.1:c.*974T>A, NM_001395313.1:c.*974T>C, NM_001395313.1:c.*974T>G, NM_001395307.1:c.*974T>A, NM_001395307.1:c.*974T>C, NM_001395307.1:c.*974T>G, NM_001395311.1:c.*870T>A, NM_001395311.1:c.*870T>C, NM_001395311.1:c.*870T>G, NM_001395314.1:c.*870T>A, NM_001395314.1:c.*870T>C, NM_001395314.1:c.*870T>G, NC_000001.10:g.144851484A>T, NC_000001.10:g.144851484A>G, NC_000001.10:g.144851484A>C, XM_005272981.4:c.*974T>A, XM_005272981.4:c.*974T>C, XM_005272981.4:c.*974T>G, XM_005272981.3:c.*974T>A, XM_005272981.3:c.*974T>C, XM_005272981.3:c.*974T>G, XM_005272981.2:c.*974T>A, XM_005272981.2:c.*974T>C, XM_005272981.2:c.*974T>G, XM_005272981.1:c.*974T>A, XM_005272981.1:c.*974T>C, XM_005272981.1:c.*974T>G, XM_011510176.3:c.*974T>A, XM_011510176.3:c.*974T>C, XM_011510176.3:c.*974T>G, XM_011510176.2:c.*974T>A, XM_011510176.2:c.*974T>C, XM_011510176.2:c.*974T>G, XM_011510176.1:c.*974T>A, XM_011510176.1:c.*974T>C, XM_011510176.1:c.*974T>G, XM_017002881.2:c.*974T>A, XM_017002881.2:c.*974T>C, XM_017002881.2:c.*974T>G, XM_017002881.1:c.*974T>A, XM_017002881.1:c.*974T>C, XM_017002881.1:c.*974T>G, XM_017002882.2:c.*974T>A, XM_017002882.2:c.*974T>C, XM_017002882.2:c.*974T>G, XM_017002882.1:c.*974T>A, XM_017002882.1:c.*974T>C, XM_017002882.1:c.*974T>G, XM_017002884.2:c.*974T>A, XM_017002884.2:c.*974T>C, XM_017002884.2:c.*974T>G, XM_017002884.1:c.*974T>A, XM_017002884.1:c.*974T>C, XM_017002884.1:c.*974T>G, XM_017002879.2:c.*870T>A, XM_017002879.2:c.*870T>C, XM_017002879.2:c.*870T>G, XM_017002879.1:c.*870T>A, XM_017002879.1:c.*870T>C, XM_017002879.1:c.*870T>G, XM_017002883.2:c.*870T>A, XM_017002883.2:c.*870T>C, XM_017002883.2:c.*870T>G, XM_017002883.1:c.*870T>A, XM_017002883.1:c.*870T>C, XM_017002883.1:c.*870T>G, XM_017002885.2:c.*974T>A, XM_017002885.2:c.*974T>C, XM_017002885.2:c.*974T>G, XM_017002885.1:c.*974T>A, XM_017002885.1:c.*974T>C, XM_017002885.1:c.*974T>G, XM_017002886.2:c.*974T>A, XM_017002886.2:c.*974T>C, XM_017002886.2:c.*974T>G, XM_017002886.1:c.*974T>A, XM_017002886.1:c.*974T>C, XM_017002886.1:c.*974T>G, XM_017002896.2:c.*974T>A, XM_017002896.2:c.*974T>C, XM_017002896.2:c.*974T>G, XM_017002896.1:c.*974T>A, XM_017002896.1:c.*974T>C, XM_017002896.1:c.*974T>G, XM_017002897.2:c.*974T>A, XM_017002897.2:c.*974T>C, XM_017002897.2:c.*974T>G, XM_017002897.1:c.*974T>A, XM_017002897.1:c.*974T>C, XM_017002897.1:c.*974T>G, XM_017002890.2:c.*870T>A, XM_017002890.2:c.*870T>C, XM_017002890.2:c.*870T>G, XM_017002890.1:c.*870T>A, XM_017002890.1:c.*870T>C, XM_017002890.1:c.*870T>G, XM_017002901.2:c.*974T>A, XM_017002901.2:c.*974T>C, XM_017002901.2:c.*974T>G, XM_017002901.1:c.*974T>A, XM_017002901.1:c.*974T>C, XM_017002901.1:c.*974T>G, XM_017002900.2:c.*870T>A, XM_017002900.2:c.*870T>C, XM_017002900.2:c.*870T>G, XM_017002900.1:c.*870T>A, XM_017002900.1:c.*870T>C, XM_017002900.1:c.*870T>G, XM_024451068.2:c.*870T>A, XM_024451068.2:c.*870T>C, XM_024451068.2:c.*870T>G, XM_024451068.1:c.*870T>A, XM_024451068.1:c.*870T>C, XM_024451068.1:c.*870T>G, XM_047435073.1:c.*974T>A, XM_047435073.1:c.*974T>C, XM_047435073.1:c.*974T>G, XM_047435074.1:c.*974T>A, XM_047435074.1:c.*974T>C, XM_047435074.1:c.*974T>G, XM_047435072.1:c.*870T>A, XM_047435072.1:c.*870T>C, XM_047435072.1:c.*870T>G, XM_047435064.1:c.*974T>A, XM_047435064.1:c.*974T>C, XM_047435064.1:c.*974T>G, XM_047435063.1:c.*870T>A, XM_047435063.1:c.*870T>C, XM_047435063.1:c.*870T>G, XM_047435065.1:c.*870T>A, XM_047435065.1:c.*870T>C, XM_047435065.1:c.*870T>G, XM_047435070.1:c.*974T>A, XM_047435070.1:c.*974T>C, XM_047435070.1:c.*974T>G, XM_047435081.1:c.*974T>A, XM_047435081.1:c.*974T>C, XM_047435081.1:c.*974T>G, XM_047435066.1:c.*870T>A, XM_047435066.1:c.*870T>C, XM_047435066.1:c.*870T>G, XM_047435071.1:c.*870T>A, XM_047435071.1:c.*870T>C, XM_047435071.1:c.*870T>G, XM_047435076.1:c.*974T>A, XM_047435076.1:c.*974T>C, XM_047435076.1:c.*974T>G, XM_047435075.1:c.*870T>A, XM_047435075.1:c.*870T>C, XM_047435075.1:c.*870T>G, XM_047435082.1:c.*974T>A, XM_047435082.1:c.*974T>C, XM_047435082.1:c.*974T>G

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