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Items: 1 to 20 of 1146

1.

rs1490822809 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    10:32689157 (GRCh38)
    10:32978085 (GRCh37)
    Canonical SPDI:
    NC_000010.11:32689156:A:G
    Gene:
    CCDC7 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000010.11:g.32689157A>G, NC_000010.10:g.32978085A>G, XM_011519684.4:c.2338A>G, XM_011519684.3:c.2338A>G, XM_011519684.2:c.2338A>G, XM_011519684.1:c.2338A>G, XM_011519686.3:c.2338A>G, XM_011519686.2:c.2338A>G, XM_011519686.1:c.2338A>G, XM_011519680.3:c.1678A>G, XM_011519680.2:c.1678A>G, XM_011519680.1:c.1678A>G, XM_017016647.3:c.2338A>G, XM_017016647.2:c.2338A>G, XM_017016647.1:c.2338A>G, NM_001321115.2:c.2338A>G, NM_001321115.1:c.2338A>G, XM_017016642.2:c.1678A>G, XM_017016642.1:c.1678A>G, XM_017016641.2:c.1777A>G, XM_017016641.1:c.1777A>G, XM_011519683.2:c.1417A>G, XM_011519683.1:c.1417A>G, XM_017016649.2:c.1057A>G, XM_017016649.1:c.1057A>G, XM_017016652.2:c.580A>G, XM_017016652.1:c.580A>G, NM_024688.2:c.259A>G, XM_047425742.1:c.2338A>G, NM_001395015.1:c.2338A>G, XM_024448165.1:c.2317A>G, XM_024448166.1:c.2305A>G, XM_017016638.1:c.2338A>G, XM_011519667.1:c.2338A>G, XM_011519666.1:c.2338A>G, XM_011519668.1:c.2248A>G, XM_011519669.1:c.2236A>G, XM_011519671.1:c.2338A>G, XM_011519670.1:c.2230A>G, XM_011519673.1:c.2338A>G, XM_047425743.1:c.2338A>G, XM_047425744.1:c.2338A>G, XM_017016640.1:c.2338A>G, XM_011519674.1:c.2338A>G, XM_011519675.1:c.2128A>G, XM_006717505.1:c.2125A>G, XM_011519677.1:c.2116A>G, XM_011519676.1:c.2338A>G, XM_006717506.1:c.2017A>G, XM_011519664.1:c.2338A>G, XM_011519679.1:c.1807A>G, XM_017016643.1:c.1528A>G, XM_047425747.1:c.1423A>G, XM_047425748.1:c.1057A>G, XM_017016646.1:c.1423A>G, XM_017016644.1:c.2338A>G, XM_017016648.1:c.1282A>G, XM_017016651.1:c.2338A>G, XM_011519687.1:c.547A>G, XP_011517986.1:p.Ile780Val, XP_011517988.1:p.Ile780Val, XP_011517982.1:p.Ile560Val, XP_016872136.1:p.Ile780Val, NP_001308044.1:p.Ile780Val, XP_016872131.1:p.Ile560Val, XP_016872130.1:p.Ile593Val, XP_011517985.1:p.Ile473Val, XP_016872138.1:p.Ile353Val, XP_016872141.1:p.Ile194Val, XP_047281698.1:p.Ile780Val, NP_001381944.1:p.Ile780Val, XP_024303933.1:p.Ile773Val, XP_024303934.1:p.Ile769Val, XP_016872127.1:p.Ile780Val, XP_011517969.1:p.Ile780Val, XP_011517968.1:p.Ile780Val, XP_011517970.1:p.Ile750Val, XP_011517971.1:p.Ile746Val, XP_011517973.1:p.Ile780Val, XP_011517972.1:p.Ile744Val, XP_011517975.1:p.Ile780Val, XP_047281699.1:p.Ile780Val, XP_047281700.1:p.Ile780Val, XP_016872129.1:p.Ile780Val, XP_011517976.1:p.Ile780Val, XP_011517977.1:p.Ile710Val, XP_006717568.1:p.Ile709Val, XP_011517979.1:p.Ile706Val, XP_011517978.1:p.Ile780Val, XP_006717569.1:p.Ile673Val, XP_011517966.1:p.Ile780Val, XP_011517981.1:p.Ile603Val, XP_016872132.1:p.Ile510Val, XP_047281703.1:p.Ile475Val, XP_047281704.1:p.Ile353Val, XP_016872135.1:p.Ile475Val, XP_016872133.1:p.Ile780Val, XP_016872137.1:p.Ile428Val, XP_016872140.1:p.Ile780Val, XP_011517989.1:p.Ile183Val

    2.

    rs1490187522 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      10:32694941 (GRCh38)
      10:32983869 (GRCh37)
      Canonical SPDI:
      NC_000010.11:32694940:G:A,NC_000010.11:32694940:G:C
      Gene:
      CCDC7 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      HGVS:
      NC_000010.11:g.32694941G>A, NC_000010.11:g.32694941G>C, NC_000010.10:g.32983869G>A, NC_000010.10:g.32983869G>C, XM_011519684.4:c.2407G>A, XM_011519684.4:c.2407G>C, XM_011519684.3:c.2407G>A, XM_011519684.3:c.2407G>C, XM_011519684.2:c.2407G>A, XM_011519684.2:c.2407G>C, XM_011519684.1:c.2407G>A, XM_011519684.1:c.2407G>C, XM_011519686.3:c.2407G>A, XM_011519686.3:c.2407G>C, XM_011519686.2:c.2407G>A, XM_011519686.2:c.2407G>C, XM_011519686.1:c.2407G>A, XM_011519686.1:c.2407G>C, XM_011519680.3:c.1747G>A, XM_011519680.3:c.1747G>C, XM_011519680.2:c.1747G>A, XM_011519680.2:c.1747G>C, XM_011519680.1:c.1747G>A, XM_011519680.1:c.1747G>C, XM_017016647.3:c.2407G>A, XM_017016647.3:c.2407G>C, XM_017016647.2:c.2407G>A, XM_017016647.2:c.2407G>C, XM_017016647.1:c.2407G>A, XM_017016647.1:c.2407G>C, NM_001321115.2:c.2407G>A, NM_001321115.2:c.2407G>C, NM_001321115.1:c.2407G>A, NM_001321115.1:c.2407G>C, XM_017016642.2:c.1747G>A, XM_017016642.2:c.1747G>C, XM_017016642.1:c.1747G>A, XM_017016642.1:c.1747G>C, XM_017016641.2:c.1846G>A, XM_017016641.2:c.1846G>C, XM_017016641.1:c.1846G>A, XM_017016641.1:c.1846G>C, XM_011519683.2:c.1486G>A, XM_011519683.2:c.1486G>C, XM_011519683.1:c.1486G>A, XM_011519683.1:c.1486G>C, XM_017016649.2:c.1126G>A, XM_017016649.2:c.1126G>C, XM_017016649.1:c.1126G>A, XM_017016649.1:c.1126G>C, XM_017016652.2:c.649G>A, XM_017016652.2:c.649G>C, XM_017016652.1:c.649G>A, XM_017016652.1:c.649G>C, NM_024688.2:c.328G>A, NM_024688.2:c.328G>C, XM_047425742.1:c.2407G>A, XM_047425742.1:c.2407G>C, NM_001395015.1:c.2407G>A, NM_001395015.1:c.2407G>C, XM_024448165.1:c.2386G>A, XM_024448165.1:c.2386G>C, XM_024448166.1:c.2374G>A, XM_024448166.1:c.2374G>C, XM_017016638.1:c.2407G>A, XM_017016638.1:c.2407G>C, XM_011519667.1:c.2407G>A, XM_011519667.1:c.2407G>C, XM_011519666.1:c.2407G>A, XM_011519666.1:c.2407G>C, XM_011519668.1:c.2317G>A, XM_011519668.1:c.2317G>C, XM_011519669.1:c.2305G>A, XM_011519669.1:c.2305G>C, XM_011519671.1:c.2407G>A, XM_011519671.1:c.2407G>C, XM_011519670.1:c.2299G>A, XM_011519670.1:c.2299G>C, XM_011519672.1:c.2296G>A, XM_011519672.1:c.2296G>C, XM_047425743.1:c.2407G>A, XM_047425743.1:c.2407G>C, XM_047425744.1:c.2407G>A, XM_047425744.1:c.2407G>C, XM_017016640.1:c.2407G>A, XM_017016640.1:c.2407G>C, XM_011519674.1:c.2407G>A, XM_011519674.1:c.2407G>C, XM_011519675.1:c.2197G>A, XM_011519675.1:c.2197G>C, XM_006717505.1:c.2194G>A, XM_006717505.1:c.2194G>C, XM_011519677.1:c.2185G>A, XM_011519677.1:c.2185G>C, XM_006717506.1:c.2086G>A, XM_006717506.1:c.2086G>C, XM_011519664.1:c.2407G>A, XM_011519664.1:c.2407G>C, XM_047425746.1:c.1975G>A, XM_047425746.1:c.1975G>C, XM_011519679.1:c.1876G>A, XM_011519679.1:c.1876G>C, XM_017016643.1:c.1597G>A, XM_017016643.1:c.1597G>C, XM_047425747.1:c.1492G>A, XM_047425747.1:c.1492G>C, XM_047425748.1:c.1126G>A, XM_047425748.1:c.1126G>C, XM_017016646.1:c.1492G>A, XM_017016646.1:c.1492G>C, XM_017016644.1:c.2407G>A, XM_017016644.1:c.2407G>C, XM_017016648.1:c.1351G>A, XM_017016648.1:c.1351G>C, XM_017016651.1:c.2407G>A, XM_017016651.1:c.2407G>C, XM_011519687.1:c.616G>A, XM_011519687.1:c.616G>C, XP_011517986.1:p.Glu803Lys, XP_011517986.1:p.Glu803Gln, XP_011517988.1:p.Glu803Lys, XP_011517988.1:p.Glu803Gln, XP_011517982.1:p.Glu583Lys, XP_011517982.1:p.Glu583Gln, XP_016872136.1:p.Glu803Lys, XP_016872136.1:p.Glu803Gln, NP_001308044.1:p.Glu803Lys, NP_001308044.1:p.Glu803Gln, XP_016872131.1:p.Glu583Lys, XP_016872131.1:p.Glu583Gln, XP_016872130.1:p.Glu616Lys, XP_016872130.1:p.Glu616Gln, XP_011517985.1:p.Glu496Lys, XP_011517985.1:p.Glu496Gln, XP_016872138.1:p.Glu376Lys, XP_016872138.1:p.Glu376Gln, XP_016872141.1:p.Glu217Lys, XP_016872141.1:p.Glu217Gln, XP_047281698.1:p.Glu803Lys, XP_047281698.1:p.Glu803Gln, NP_001381944.1:p.Glu803Lys, NP_001381944.1:p.Glu803Gln, XP_024303933.1:p.Glu796Lys, XP_024303933.1:p.Glu796Gln, XP_024303934.1:p.Glu792Lys, XP_024303934.1:p.Glu792Gln, XP_016872127.1:p.Glu803Lys, XP_016872127.1:p.Glu803Gln, XP_011517969.1:p.Glu803Lys, XP_011517969.1:p.Glu803Gln, XP_011517968.1:p.Glu803Lys, XP_011517968.1:p.Glu803Gln, XP_011517970.1:p.Glu773Lys, XP_011517970.1:p.Glu773Gln, XP_011517971.1:p.Glu769Lys, XP_011517971.1:p.Glu769Gln, XP_011517973.1:p.Glu803Lys, XP_011517973.1:p.Glu803Gln, XP_011517972.1:p.Glu767Lys, XP_011517972.1:p.Glu767Gln, XP_011517974.1:p.Glu766Lys, XP_011517974.1:p.Glu766Gln, XP_047281699.1:p.Glu803Lys, XP_047281699.1:p.Glu803Gln, XP_047281700.1:p.Glu803Lys, XP_047281700.1:p.Glu803Gln, XP_016872129.1:p.Glu803Lys, XP_016872129.1:p.Glu803Gln, XP_011517976.1:p.Glu803Lys, XP_011517976.1:p.Glu803Gln, XP_011517977.1:p.Glu733Lys, XP_011517977.1:p.Glu733Gln, XP_006717568.1:p.Glu732Lys, XP_006717568.1:p.Glu732Gln, XP_011517979.1:p.Glu729Lys, XP_011517979.1:p.Glu729Gln, XP_006717569.1:p.Glu696Lys, XP_006717569.1:p.Glu696Gln, XP_011517966.1:p.Glu803Lys, XP_011517966.1:p.Glu803Gln, XP_047281702.1:p.Glu659Lys, XP_047281702.1:p.Glu659Gln, XP_011517981.1:p.Glu626Lys, XP_011517981.1:p.Glu626Gln, XP_016872132.1:p.Glu533Lys, XP_016872132.1:p.Glu533Gln, XP_047281703.1:p.Glu498Lys, XP_047281703.1:p.Glu498Gln, XP_047281704.1:p.Glu376Lys, XP_047281704.1:p.Glu376Gln, XP_016872135.1:p.Glu498Lys, XP_016872135.1:p.Glu498Gln, XP_016872133.1:p.Glu803Lys, XP_016872133.1:p.Glu803Gln, XP_016872137.1:p.Glu451Lys, XP_016872137.1:p.Glu451Gln, XP_016872140.1:p.Glu803Lys, XP_016872140.1:p.Glu803Gln, XP_011517989.1:p.Glu206Lys, XP_011517989.1:p.Glu206Gln

      3.

      rs1490063483 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        10:32543326 (GRCh38)
        10:32832254 (GRCh37)
        Canonical SPDI:
        NC_000010.11:32543325:AAA:AA
        Gene:
        CCDC7 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        -=0.000006/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.32543328del, NC_000010.10:g.32832256del, NM_145023.6:c.1022del, NM_145023.5:c.1022del, NM_145023.4:c.1022del, XM_011519684.4:c.1022del, XM_011519684.3:c.1022del, XM_011519684.2:c.1022del, XM_011519684.1:c.1022del, XM_011519686.3:c.1022del, XM_011519686.2:c.1022del, XM_011519686.1:c.1022del, XM_011519680.3:c.362del, XM_011519680.2:c.362del, XM_011519680.1:c.362del, XM_017016647.3:c.1022del, XM_017016647.2:c.1022del, XM_017016647.1:c.1022del, XM_011519688.3:c.1022del, XM_011519688.2:c.1022del, XM_011519688.1:c.1022del, NM_001026383.3:c.1022del, NM_001026383.2:c.1022del, NM_001026383.1:c.1022del, NM_001321115.2:c.1022del, NM_001321115.1:c.1022del, XM_017016642.2:c.362del, XM_017016642.1:c.362del, XM_017016641.2:c.461del, XM_017016641.1:c.461del, XM_011519683.2:c.101del, XM_011519683.1:c.101del, NR_109826.2:n.1255del, NR_109826.1:n.1313del, XM_047425742.1:c.1022del, NM_001395015.1:c.1022del, XM_024448165.1:c.1001del, XM_024448166.1:c.989del, XM_017016638.1:c.1022del, XM_011519667.1:c.1022del, XM_011519666.1:c.1022del, XM_011519668.1:c.932del, XM_011519669.1:c.1022del, XM_011519671.1:c.1022del, XM_011519670.1:c.1022del, XM_011519672.1:c.1022del, XM_011519673.1:c.1022del, XM_047425743.1:c.1022del, XM_047425744.1:c.1022del, XM_017016640.1:c.1022del, XM_011519674.1:c.1022del, XM_011519675.1:c.1022del, XM_006717505.1:c.1022del, XM_011519677.1:c.1022del, XM_011519676.1:c.1022del, XM_011519678.1:c.1022del, XM_006717506.1:c.1022del, XM_011519664.1:c.1022del, XM_047425746.1:c.1022del, XM_011519679.1:c.1022del, XM_017016643.1:c.212del, NM_001395233.1:c.506del, XM_047425747.1:c.107del, XM_017016646.1:c.107del, XM_017016644.1:c.1022del, XM_017016651.1:c.1022del, NP_659460.3:p.Lys341fs, XP_011517986.1:p.Lys341fs, XP_011517988.1:p.Lys341fs, XP_011517982.1:p.Lys121fs, XP_016872136.1:p.Lys341fs, XP_011517990.1:p.Lys341fs, NP_001021554.1:p.Lys341fs, NP_001308044.1:p.Lys341fs, XP_016872131.1:p.Lys121fs, XP_016872130.1:p.Lys154fs, XP_011517985.1:p.Lys34fs, XP_047281698.1:p.Lys341fs, NP_001381944.1:p.Lys341fs, XP_024303933.1:p.Lys334fs, XP_024303934.1:p.Lys330fs, XP_016872127.1:p.Lys341fs, XP_011517969.1:p.Lys341fs, XP_011517968.1:p.Lys341fs, XP_011517970.1:p.Lys311fs, XP_011517971.1:p.Lys341fs, XP_011517973.1:p.Lys341fs, XP_011517972.1:p.Lys341fs, XP_011517974.1:p.Lys341fs, XP_011517975.1:p.Lys341fs, XP_047281699.1:p.Lys341fs, XP_047281700.1:p.Lys341fs, XP_016872129.1:p.Lys341fs, XP_011517976.1:p.Lys341fs, XP_011517977.1:p.Lys341fs, XP_006717568.1:p.Lys341fs, XP_011517979.1:p.Lys341fs, XP_011517978.1:p.Lys341fs, XP_011517980.1:p.Lys341fs, XP_006717569.1:p.Lys341fs, XP_011517966.1:p.Lys341fs, XP_047281702.1:p.Lys341fs, XP_011517981.1:p.Lys341fs, XP_016872132.1:p.Lys71fs, NP_001382162.1:p.Lys169fs, XP_047281703.1:p.Lys36fs, XP_016872135.1:p.Lys36fs, XP_016872133.1:p.Lys341fs, XP_016872140.1:p.Lys341fs

        4.

        rs1489295078 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C,T [Show Flanks]
          Chromosome:
          10:32848600 (GRCh38)
          10:33137528 (GRCh37)
          Canonical SPDI:
          NC_000010.11:32848599:G:C,NC_000010.11:32848599:G:T
          Gene:
          CCDC7 (Varview)
          Functional Consequence:
          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000010.11:g.32848600G>C, NC_000010.11:g.32848600G>T, NC_000010.10:g.33137528G>C, NC_000010.10:g.33137528G>T, XM_011519680.3:c.3117G>C, XM_011519680.3:c.3117G>T, XM_011519680.2:c.3117G>C, XM_011519680.2:c.3117G>T, XM_011519680.1:c.3117G>C, XM_011519680.1:c.3117G>T, NM_001321115.2:c.3777G>C, NM_001321115.2:c.3777G>T, NM_001321115.1:c.3777G>C, NM_001321115.1:c.3777G>T, XM_017016642.2:c.3117G>C, XM_017016642.2:c.3117G>T, XM_017016642.1:c.3117G>C, XM_017016642.1:c.3117G>T, XM_017016641.2:c.3216G>C, XM_017016641.2:c.3216G>T, XM_017016641.1:c.3216G>C, XM_017016641.1:c.3216G>T, XM_011519683.2:c.2856G>C, XM_011519683.2:c.2856G>T, XM_011519683.1:c.2856G>C, XM_011519683.1:c.2856G>T, XM_017016649.2:c.2496G>C, XM_017016649.2:c.2496G>T, XM_017016649.1:c.2496G>C, XM_017016649.1:c.2496G>T, XM_017016652.2:c.2019G>C, XM_017016652.2:c.2019G>T, XM_017016652.1:c.2019G>C, XM_017016652.1:c.2019G>T, NM_024688.2:c.1506G>C, NM_024688.2:c.1506G>T, XM_047425742.1:c.3777G>C, XM_047425742.1:c.3777G>T, NM_001395015.1:c.3777G>C, NM_001395015.1:c.3777G>T, XM_024448165.1:c.3756G>C, XM_024448165.1:c.3756G>T, XM_024448166.1:c.3744G>C, XM_024448166.1:c.3744G>T, XM_017016638.1:c.3732G>C, XM_017016638.1:c.3732G>T, XM_011519667.1:c.3693G>C, XM_011519667.1:c.3693G>T, XM_011519666.1:c.3693G>C, XM_011519666.1:c.3693G>T, XM_011519668.1:c.3687G>C, XM_011519668.1:c.3687G>T, XM_011519669.1:c.3675G>C, XM_011519669.1:c.3675G>T, XM_011519671.1:c.3669G>C, XM_011519671.1:c.3669G>T, XM_011519670.1:c.3669G>C, XM_011519670.1:c.3669G>T, XM_011519672.1:c.3666G>C, XM_011519672.1:c.3666G>T, XM_011519673.1:c.3663G>C, XM_011519673.1:c.3663G>T, XM_047425743.1:c.3777G>C, XM_047425743.1:c.3777G>T, XM_047425744.1:c.3609G>C, XM_047425744.1:c.3609G>T, XM_017016640.1:c.3585G>C, XM_017016640.1:c.3585G>T, XM_011519674.1:c.3585G>C, XM_011519674.1:c.3585G>T, XM_011519675.1:c.3567G>C, XM_011519675.1:c.3567G>T, XM_006717505.1:c.3564G>C, XM_006717505.1:c.3564G>T, XM_011519677.1:c.3555G>C, XM_011519677.1:c.3555G>T, XM_011519676.1:c.3555G>C, XM_011519676.1:c.3555G>T, XM_011519678.1:c.3552G>C, XM_011519678.1:c.3552G>T, XM_006717506.1:c.3456G>C, XM_006717506.1:c.3456G>T, XM_011519664.1:c.3777G>C, XM_011519664.1:c.3777G>T, XM_047425746.1:c.3345G>C, XM_047425746.1:c.3345G>T, XM_011519679.1:c.3246G>C, XM_011519679.1:c.3246G>T, XM_017016643.1:c.2967G>C, XM_017016643.1:c.2967G>T, XM_047425747.1:c.2862G>C, XM_047425747.1:c.2862G>T, XM_047425748.1:c.2496G>C, XM_047425748.1:c.2496G>T, XM_017016646.1:c.2862G>C, XM_017016646.1:c.2862G>T, XM_017016648.1:c.2721G>C, XM_017016648.1:c.2721G>T, XM_011519687.1:c.1986G>C, XM_011519687.1:c.1986G>T

          5.

          rs1488371213 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            10:32726806 (GRCh38)
            10:33015734 (GRCh37)
            Canonical SPDI:
            NC_000010.11:32726805:T:
            Gene:
            CCDC7 (Varview)
            Functional Consequence:
            frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            NC_000010.11:g.32726806del, NC_000010.10:g.33015734del, XM_011519684.4:c.2642del, XM_011519684.3:c.2642del, XM_011519684.2:c.2642del, XM_011519684.1:c.2642del, XM_011519686.3:c.2642del, XM_011519686.2:c.2642del, XM_011519686.1:c.2642del, XM_011519680.3:c.1982del, XM_011519680.2:c.1982del, XM_011519680.1:c.1982del, XM_017016647.3:c.2642del, XM_017016647.2:c.2642del, XM_017016647.1:c.2642del, NM_001321115.2:c.2642del, NM_001321115.1:c.2642del, XM_017016642.2:c.1982del, XM_017016642.1:c.1982del, XM_017016641.2:c.2081del, XM_017016641.1:c.2081del, XM_011519683.2:c.1721del, XM_011519683.1:c.1721del, XM_017016649.2:c.1361del, XM_017016649.1:c.1361del, XM_017016652.2:c.884del, XM_017016652.1:c.884del, NM_024688.2:c.563del, XM_047425742.1:c.2642del, NM_001395015.1:c.2642del, XM_024448165.1:c.2621del, XM_024448166.1:c.2609del, XM_017016638.1:c.2642del, XM_011519667.1:c.2642del, XM_011519666.1:c.2642del, XM_011519668.1:c.2552del, XM_011519669.1:c.2540del, XM_011519671.1:c.2642del, XM_011519670.1:c.2534del, XM_011519672.1:c.2531del, XM_011519673.1:c.2528del, XM_047425743.1:c.2642del, XM_047425744.1:c.2642del, XM_017016640.1:c.2642del, XM_011519674.1:c.2642del, XM_011519675.1:c.2432del, XM_006717505.1:c.2429del, XM_011519677.1:c.2420del, XM_011519676.1:c.2528del, XM_011519678.1:c.2417del, XM_006717506.1:c.2321del, XM_011519664.1:c.2642del, XM_047425746.1:c.2210del, XM_011519679.1:c.2111del, XM_017016643.1:c.1832del, NM_001395233.1:c.1247del, XM_047425747.1:c.1727del, XM_047425748.1:c.1361del, XM_017016646.1:c.1727del, XM_017016644.1:c.2642del, XM_017016648.1:c.1586del, XM_011519687.1:c.851del, XP_011517986.1:p.Ile881fs, XP_011517988.1:p.Ile881fs, XP_011517982.1:p.Ile661fs, XP_016872136.1:p.Ile881fs, NP_001308044.1:p.Ile881fs, XP_016872131.1:p.Ile661fs, XP_016872130.1:p.Ile694fs, XP_011517985.1:p.Ile574fs, XP_016872138.1:p.Ile454fs, XP_016872141.1:p.Ile295fs, XP_047281698.1:p.Ile881fs, NP_001381944.1:p.Ile881fs, XP_024303933.1:p.Ile874fs, XP_024303934.1:p.Ile870fs, XP_016872127.1:p.Ile881fs, XP_011517969.1:p.Ile881fs, XP_011517968.1:p.Ile881fs, XP_011517970.1:p.Ile851fs, XP_011517971.1:p.Ile847fs, XP_011517973.1:p.Ile881fs, XP_011517972.1:p.Ile845fs, XP_011517974.1:p.Ile844fs, XP_011517975.1:p.Ile843fs, XP_047281699.1:p.Ile881fs, XP_047281700.1:p.Ile881fs, XP_016872129.1:p.Ile881fs, XP_011517976.1:p.Ile881fs, XP_011517977.1:p.Ile811fs, XP_006717568.1:p.Ile810fs, XP_011517979.1:p.Ile807fs, XP_011517978.1:p.Ile843fs, XP_011517980.1:p.Ile806fs, XP_006717569.1:p.Ile774fs, XP_011517966.1:p.Ile881fs, XP_047281702.1:p.Ile737fs, XP_011517981.1:p.Ile704fs, XP_016872132.1:p.Ile611fs, NP_001382162.1:p.Ile416fs, XP_047281703.1:p.Ile576fs, XP_047281704.1:p.Ile454fs, XP_016872135.1:p.Ile576fs, XP_016872133.1:p.Ile881fs, XP_016872137.1:p.Ile529fs, XP_011517989.1:p.Ile284fs

            6.

            rs1487824588 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:32834864 (GRCh38)
              10:33123792 (GRCh37)
              Canonical SPDI:
              NC_000010.11:32834863:G:A
              Gene:
              CCDC7 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000010.11:g.32834864G>A, NC_000010.10:g.33123792G>A, XM_011519680.3:c.2658G>A, XM_011519680.2:c.2658G>A, XM_011519680.1:c.2658G>A, NM_001321115.2:c.3318G>A, NM_001321115.1:c.3318G>A, XM_017016642.2:c.2658G>A, XM_017016642.1:c.2658G>A, XM_017016641.2:c.2757G>A, XM_017016641.1:c.2757G>A, XM_011519683.2:c.2397G>A, XM_011519683.1:c.2397G>A, XM_017016649.2:c.2037G>A, XM_017016649.1:c.2037G>A, XM_017016652.2:c.1560G>A, XM_017016652.1:c.1560G>A, NM_024688.2:c.1131G>A, XM_047425742.1:c.3318G>A, NM_001395015.1:c.3318G>A, XM_024448165.1:c.3297G>A, XM_024448166.1:c.3285G>A, XM_017016638.1:c.3273G>A, XM_011519667.1:c.3318G>A, XM_011519666.1:c.3234G>A, XM_011519668.1:c.3228G>A, XM_011519669.1:c.3216G>A, XM_011519671.1:c.3210G>A, XM_011519670.1:c.3210G>A, XM_011519672.1:c.3207G>A, XM_011519673.1:c.3204G>A, XM_047425743.1:c.3318G>A, XM_047425744.1:c.3234G>A, XM_017016640.1:c.3126G>A, XM_011519674.1:c.3210G>A, XM_011519675.1:c.3108G>A, XM_006717505.1:c.3105G>A, XM_011519677.1:c.3096G>A, XM_011519676.1:c.3096G>A, XM_011519678.1:c.3093G>A, XM_006717506.1:c.2997G>A, XM_011519664.1:c.3318G>A, XM_047425746.1:c.2886G>A, XM_011519679.1:c.2787G>A, XM_017016643.1:c.2508G>A, XM_047425747.1:c.2403G>A, XM_047425748.1:c.2037G>A, XM_017016646.1:c.2403G>A, XM_017016648.1:c.2262G>A, XM_011519687.1:c.1527G>A

              7.

              rs1487581042 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                10:32567724 (GRCh38)
                10:32856652 (GRCh37)
                Canonical SPDI:
                NC_000010.11:32567723:C:A
                Gene:
                CCDC7 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.32567724C>A, NC_000010.10:g.32856652C>A, NM_145023.6:c.1252C>A, NM_145023.5:c.1252C>A, NM_145023.4:c.1252C>A, XM_011519684.4:c.1252C>A, XM_011519684.3:c.1252C>A, XM_011519684.2:c.1252C>A, XM_011519684.1:c.1252C>A, XM_011519686.3:c.1252C>A, XM_011519686.2:c.1252C>A, XM_011519686.1:c.1252C>A, XM_011519680.3:c.592C>A, XM_011519680.2:c.592C>A, XM_011519680.1:c.592C>A, XM_017016647.3:c.1252C>A, XM_017016647.2:c.1252C>A, XM_017016647.1:c.1252C>A, XM_011519688.3:c.1252C>A, XM_011519688.2:c.1252C>A, XM_011519688.1:c.1252C>A, NM_001026383.3:c.1252C>A, NM_001026383.2:c.1252C>A, NM_001026383.1:c.1252C>A, NM_001321115.2:c.1252C>A, NM_001321115.1:c.1252C>A, XM_017016642.2:c.592C>A, XM_017016642.1:c.592C>A, XM_017016641.2:c.691C>A, XM_017016641.1:c.691C>A, XM_011519683.2:c.331C>A, XM_011519683.1:c.331C>A, XM_017016649.2:c.-30C>A, XM_017016649.1:c.-30C>A, NM_024688.2:c.-472C>A, NR_109826.2:n.1485C>A, NR_109826.1:n.1543C>A, XM_047425742.1:c.1252C>A, NM_001395015.1:c.1252C>A, XM_024448165.1:c.1231C>A, XM_024448166.1:c.1219C>A, XM_017016638.1:c.1252C>A, XM_011519667.1:c.1252C>A, XM_011519666.1:c.1252C>A, XM_011519668.1:c.1162C>A, XM_011519669.1:c.1252C>A, XM_011519671.1:c.1252C>A, XM_011519670.1:c.1252C>A, XM_011519672.1:c.1252C>A, XM_011519673.1:c.1252C>A, XM_047425743.1:c.1252C>A, XM_047425744.1:c.1252C>A, XM_017016640.1:c.1252C>A, XM_011519674.1:c.1252C>A, XM_011519675.1:c.1252C>A, XM_006717505.1:c.1252C>A, XM_011519676.1:c.1252C>A, XM_011519678.1:c.1252C>A, XM_006717506.1:c.1252C>A, XM_011519664.1:c.1252C>A, XM_047425746.1:c.1252C>A, XM_017016643.1:c.442C>A, XM_047425747.1:c.337C>A, XM_047425748.1:c.-30C>A, XM_017016646.1:c.337C>A, XM_017016644.1:c.1252C>A, XM_017016648.1:c.196C>A, XM_017016651.1:c.1252C>A, NP_659460.3:p.Leu418Ile, XP_011517986.1:p.Leu418Ile, XP_011517988.1:p.Leu418Ile, XP_011517982.1:p.Leu198Ile, XP_016872136.1:p.Leu418Ile, XP_011517990.1:p.Leu418Ile, NP_001021554.1:p.Leu418Ile, NP_001308044.1:p.Leu418Ile, XP_016872131.1:p.Leu198Ile, XP_016872130.1:p.Leu231Ile, XP_011517985.1:p.Leu111Ile, XP_047281698.1:p.Leu418Ile, NP_001381944.1:p.Leu418Ile, XP_024303933.1:p.Leu411Ile, XP_024303934.1:p.Leu407Ile, XP_016872127.1:p.Leu418Ile, XP_011517969.1:p.Leu418Ile, XP_011517968.1:p.Leu418Ile, XP_011517970.1:p.Leu388Ile, XP_011517971.1:p.Leu418Ile, XP_011517973.1:p.Leu418Ile, XP_011517972.1:p.Leu418Ile, XP_011517974.1:p.Leu418Ile, XP_011517975.1:p.Leu418Ile, XP_047281699.1:p.Leu418Ile, XP_047281700.1:p.Leu418Ile, XP_016872129.1:p.Leu418Ile, XP_011517976.1:p.Leu418Ile, XP_011517977.1:p.Leu418Ile, XP_006717568.1:p.Leu418Ile, XP_011517978.1:p.Leu418Ile, XP_011517980.1:p.Leu418Ile, XP_006717569.1:p.Leu418Ile, XP_011517966.1:p.Leu418Ile, XP_047281702.1:p.Leu418Ile, XP_016872132.1:p.Leu148Ile, XP_047281703.1:p.Leu113Ile, XP_016872135.1:p.Leu113Ile, XP_016872133.1:p.Leu418Ile, XP_016872137.1:p.Leu66Ile, XP_016872140.1:p.Leu418Ile

                8.

                rs1486869980 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  10:32845270 (GRCh38)
                  10:33134198 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:32845269:A:C
                  Gene:
                  CCDC7 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.32845270A>C, NC_000010.10:g.33134198A>C, XM_011519680.3:c.2720A>C, XM_011519680.2:c.2720A>C, XM_011519680.1:c.2720A>C, NM_001321115.2:c.3380A>C, NM_001321115.1:c.3380A>C, XM_017016642.2:c.2720A>C, XM_017016642.1:c.2720A>C, XM_017016641.2:c.2819A>C, XM_017016641.1:c.2819A>C, XM_011519683.2:c.2459A>C, XM_011519683.1:c.2459A>C, XM_017016649.2:c.2099A>C, XM_017016649.1:c.2099A>C, XM_017016652.2:c.1622A>C, XM_017016652.1:c.1622A>C, XM_047425742.1:c.3380A>C, NM_001395015.1:c.3380A>C, XM_024448165.1:c.3359A>C, XM_024448166.1:c.3347A>C, XM_017016638.1:c.3335A>C, XM_011519666.1:c.3296A>C, XM_011519668.1:c.3290A>C, XM_011519669.1:c.3278A>C, XM_011519671.1:c.3272A>C, XM_011519670.1:c.3272A>C, XM_011519672.1:c.3269A>C, XM_011519673.1:c.3266A>C, XM_047425743.1:c.3380A>C, XM_017016640.1:c.3188A>C, XM_011519675.1:c.3170A>C, XM_006717505.1:c.3167A>C, XM_011519677.1:c.3158A>C, XM_011519676.1:c.3158A>C, XM_011519678.1:c.3155A>C, XM_006717506.1:c.3059A>C, XM_011519664.1:c.3380A>C, XM_047425746.1:c.2948A>C, XM_011519679.1:c.2849A>C, XM_017016643.1:c.2570A>C, XM_047425747.1:c.2465A>C, XM_047425748.1:c.2099A>C, XM_017016646.1:c.2465A>C, XM_017016648.1:c.2324A>C, XM_011519687.1:c.1589A>C, XP_011517982.1:p.Asp907Ala, NP_001308044.1:p.Asp1127Ala, XP_016872131.1:p.Asp907Ala, XP_016872130.1:p.Asp940Ala, XP_011517985.1:p.Asp820Ala, XP_016872138.1:p.Asp700Ala, XP_016872141.1:p.Asp541Ala, XP_047281698.1:p.Asp1127Ala, NP_001381944.1:p.Asp1127Ala, XP_024303933.1:p.Asp1120Ala, XP_024303934.1:p.Asp1116Ala, XP_016872127.1:p.Asp1112Ala, XP_011517968.1:p.Asp1099Ala, XP_011517970.1:p.Asp1097Ala, XP_011517971.1:p.Asp1093Ala, XP_011517973.1:p.Asp1091Ala, XP_011517972.1:p.Asp1091Ala, XP_011517974.1:p.Asp1090Ala, XP_011517975.1:p.Asp1089Ala, XP_047281699.1:p.Asp1127Ala, XP_016872129.1:p.Asp1063Ala, XP_011517977.1:p.Asp1057Ala, XP_006717568.1:p.Asp1056Ala, XP_011517979.1:p.Asp1053Ala, XP_011517978.1:p.Asp1053Ala, XP_011517980.1:p.Asp1052Ala, XP_006717569.1:p.Asp1020Ala, XP_011517966.1:p.Asp1127Ala, XP_047281702.1:p.Asp983Ala, XP_011517981.1:p.Asp950Ala, XP_016872132.1:p.Asp857Ala, XP_047281703.1:p.Asp822Ala, XP_047281704.1:p.Asp700Ala, XP_016872135.1:p.Asp822Ala, XP_016872137.1:p.Asp775Ala, XP_011517989.1:p.Asp530Ala

                  9.

                  rs1486866970 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    10:32664055 (GRCh38)
                    10:32952983 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:32664054:T:G
                    Gene:
                    CCDC7 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000023/6 (TOPMED)
                    G=0.000342/1 (KOREAN)
                    G=0.002407/40 (TOMMO)
                    HGVS:
                    NC_000010.11:g.32664055T>G, NC_000010.10:g.32952983T>G, XM_011519684.4:c.2016T>G, XM_011519684.3:c.2016T>G, XM_011519684.2:c.2016T>G, XM_011519684.1:c.2016T>G, XM_011519686.3:c.2016T>G, XM_011519686.2:c.2016T>G, XM_011519686.1:c.2016T>G, XM_011519680.3:c.1356T>G, XM_011519680.2:c.1356T>G, XM_011519680.1:c.1356T>G, XM_017016647.3:c.2016T>G, XM_017016647.2:c.2016T>G, XM_017016647.1:c.2016T>G, XM_011519688.3:c.2016T>G, XM_011519688.2:c.2016T>G, XM_011519688.1:c.2016T>G, NM_001321115.2:c.2016T>G, NM_001321115.1:c.2016T>G, XM_017016642.2:c.1356T>G, XM_017016642.1:c.1356T>G, XM_017016641.2:c.1455T>G, XM_017016641.1:c.1455T>G, XM_011519683.2:c.1095T>G, XM_011519683.1:c.1095T>G, XM_017016649.2:c.735T>G, XM_017016649.1:c.735T>G, XM_017016652.2:c.258T>G, XM_017016652.1:c.258T>G, XM_047425742.1:c.2016T>G, NM_001395015.1:c.2016T>G, XM_024448165.1:c.1995T>G, XM_024448166.1:c.1983T>G, XM_017016638.1:c.2016T>G, XM_011519667.1:c.2016T>G, XM_011519666.1:c.2016T>G, XM_011519668.1:c.1926T>G, XM_011519669.1:c.1914T>G, XM_011519671.1:c.2016T>G, XM_011519672.1:c.2016T>G, XM_011519673.1:c.2016T>G, XM_047425743.1:c.2016T>G, XM_047425744.1:c.2016T>G, XM_017016640.1:c.2016T>G, XM_011519674.1:c.2016T>G, XM_006717505.1:c.1803T>G, XM_011519677.1:c.1794T>G, XM_011519676.1:c.2016T>G, XM_011519678.1:c.2016T>G, XM_011519664.1:c.2016T>G, XM_011519679.1:c.1485T>G, XM_017016643.1:c.1206T>G, XM_047425747.1:c.1101T>G, XM_047425748.1:c.735T>G, XM_017016646.1:c.1101T>G, XM_017016644.1:c.2016T>G, XM_017016648.1:c.960T>G, XM_017016651.1:c.2016T>G, XM_011519687.1:c.225T>G

                    10.

                    rs1485237322 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:32729434 (GRCh38)
                      10:33018362 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:32729433:A:G
                      Gene:
                      CCDC7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                      HGVS:
                      NC_000010.11:g.32729434A>G, NC_000010.10:g.33018362A>G, XM_011519684.4:c.2882A>G, XM_011519684.3:c.2882A>G, XM_011519684.2:c.2882A>G, XM_011519684.1:c.2882A>G, XM_011519686.3:c.2882A>G, XM_011519686.2:c.2882A>G, XM_011519686.1:c.2882A>G, XM_011519680.3:c.2222A>G, XM_011519680.2:c.2222A>G, XM_011519680.1:c.2222A>G, XM_017016647.3:c.2882A>G, XM_017016647.2:c.2882A>G, XM_017016647.1:c.2882A>G, NM_001321115.2:c.2882A>G, NM_001321115.1:c.2882A>G, XM_017016642.2:c.2222A>G, XM_017016642.1:c.2222A>G, XM_017016641.2:c.2321A>G, XM_017016641.1:c.2321A>G, XM_011519683.2:c.1961A>G, XM_011519683.1:c.1961A>G, XM_017016649.2:c.1601A>G, XM_017016649.1:c.1601A>G, XM_017016652.2:c.1124A>G, XM_017016652.1:c.1124A>G, NM_024688.2:c.803A>G, XM_047425742.1:c.2882A>G, NM_001395015.1:c.2882A>G, XM_024448165.1:c.2861A>G, XM_024448166.1:c.2849A>G, XM_017016638.1:c.2837A>G, XM_011519667.1:c.2882A>G, XM_011519666.1:c.2882A>G, XM_011519668.1:c.2792A>G, XM_011519669.1:c.2780A>G, XM_011519671.1:c.2882A>G, XM_011519670.1:c.2774A>G, XM_011519672.1:c.2771A>G, XM_011519673.1:c.2768A>G, XM_047425743.1:c.2882A>G, XM_047425744.1:c.2882A>G, XM_017016640.1:c.2882A>G, XM_011519674.1:c.2882A>G, XM_011519675.1:c.2672A>G, XM_006717505.1:c.2669A>G, XM_011519677.1:c.2660A>G, XM_011519676.1:c.2768A>G, XM_011519678.1:c.2657A>G, XM_006717506.1:c.2561A>G, XM_011519664.1:c.2882A>G, XM_047425746.1:c.2450A>G, XM_011519679.1:c.2351A>G, XM_017016643.1:c.2072A>G, NM_001395233.1:c.1487A>G, XM_047425747.1:c.1967A>G, XM_047425748.1:c.1601A>G, XM_017016646.1:c.1967A>G, XM_017016644.1:c.2882A>G, XM_017016648.1:c.1826A>G, XM_011519687.1:c.1091A>G, XP_011517986.1:p.Gln961Arg, XP_011517988.1:p.Gln961Arg, XP_011517982.1:p.Gln741Arg, XP_016872136.1:p.Gln961Arg, NP_001308044.1:p.Gln961Arg, XP_016872131.1:p.Gln741Arg, XP_016872130.1:p.Gln774Arg, XP_011517985.1:p.Gln654Arg, XP_016872138.1:p.Gln534Arg, XP_016872141.1:p.Gln375Arg, XP_047281698.1:p.Gln961Arg, NP_001381944.1:p.Gln961Arg, XP_024303933.1:p.Gln954Arg, XP_024303934.1:p.Gln950Arg, XP_016872127.1:p.Gln946Arg, XP_011517969.1:p.Gln961Arg, XP_011517968.1:p.Gln961Arg, XP_011517970.1:p.Gln931Arg, XP_011517971.1:p.Gln927Arg, XP_011517973.1:p.Gln961Arg, XP_011517972.1:p.Gln925Arg, XP_011517974.1:p.Gln924Arg, XP_011517975.1:p.Gln923Arg, XP_047281699.1:p.Gln961Arg, XP_047281700.1:p.Gln961Arg, XP_016872129.1:p.Gln961Arg, XP_011517976.1:p.Gln961Arg, XP_011517977.1:p.Gln891Arg, XP_006717568.1:p.Gln890Arg, XP_011517979.1:p.Gln887Arg, XP_011517978.1:p.Gln923Arg, XP_011517980.1:p.Gln886Arg, XP_006717569.1:p.Gln854Arg, XP_011517966.1:p.Gln961Arg, XP_047281702.1:p.Gln817Arg, XP_011517981.1:p.Gln784Arg, XP_016872132.1:p.Gln691Arg, NP_001382162.1:p.Gln496Arg, XP_047281703.1:p.Gln656Arg, XP_047281704.1:p.Gln534Arg, XP_016872135.1:p.Gln656Arg, XP_016872133.1:p.Gln961Arg, XP_016872137.1:p.Gln609Arg, XP_011517989.1:p.Gln364Arg

                      11.

                      rs1485046035 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:32728907 (GRCh38)
                        10:33017835 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:32728906:G:A
                        Gene:
                        CCDC7 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000010.11:g.32728907G>A, NC_000010.10:g.33017835G>A, XM_011519684.4:c.2689G>A, XM_011519684.3:c.2689G>A, XM_011519684.2:c.2689G>A, XM_011519684.1:c.2689G>A, XM_011519686.3:c.2689G>A, XM_011519686.2:c.2689G>A, XM_011519686.1:c.2689G>A, XM_011519680.3:c.2029G>A, XM_011519680.2:c.2029G>A, XM_011519680.1:c.2029G>A, XM_017016647.3:c.2689G>A, XM_017016647.2:c.2689G>A, XM_017016647.1:c.2689G>A, NM_001321115.2:c.2689G>A, NM_001321115.1:c.2689G>A, XM_017016642.2:c.2029G>A, XM_017016642.1:c.2029G>A, XM_017016641.2:c.2128G>A, XM_017016641.1:c.2128G>A, XM_011519683.2:c.1768G>A, XM_011519683.1:c.1768G>A, XM_017016649.2:c.1408G>A, XM_017016649.1:c.1408G>A, XM_017016652.2:c.931G>A, XM_017016652.1:c.931G>A, NM_024688.2:c.610G>A, XM_047425742.1:c.2689G>A, NM_001395015.1:c.2689G>A, XM_024448165.1:c.2668G>A, XM_024448166.1:c.2656G>A, XM_011519667.1:c.2689G>A, XM_011519666.1:c.2689G>A, XM_011519668.1:c.2599G>A, XM_011519669.1:c.2587G>A, XM_011519671.1:c.2689G>A, XM_011519670.1:c.2581G>A, XM_011519672.1:c.2578G>A, XM_011519673.1:c.2575G>A, XM_047425743.1:c.2689G>A, XM_047425744.1:c.2689G>A, XM_017016640.1:c.2689G>A, XM_011519674.1:c.2689G>A, XM_011519675.1:c.2479G>A, XM_006717505.1:c.2476G>A, XM_011519677.1:c.2467G>A, XM_011519676.1:c.2575G>A, XM_011519678.1:c.2464G>A, XM_006717506.1:c.2368G>A, XM_011519664.1:c.2689G>A, XM_047425746.1:c.2257G>A, XM_011519679.1:c.2158G>A, XM_017016643.1:c.1879G>A, NM_001395233.1:c.1294G>A, XM_047425747.1:c.1774G>A, XM_047425748.1:c.1408G>A, XM_017016646.1:c.1774G>A, XM_017016644.1:c.2689G>A, XM_017016648.1:c.1633G>A, XM_011519687.1:c.898G>A, XP_011517986.1:p.Glu897Lys, XP_011517988.1:p.Glu897Lys, XP_011517982.1:p.Glu677Lys, XP_016872136.1:p.Glu897Lys, NP_001308044.1:p.Glu897Lys, XP_016872131.1:p.Glu677Lys, XP_016872130.1:p.Glu710Lys, XP_011517985.1:p.Glu590Lys, XP_016872138.1:p.Glu470Lys, XP_016872141.1:p.Glu311Lys, XP_047281698.1:p.Glu897Lys, NP_001381944.1:p.Glu897Lys, XP_024303933.1:p.Glu890Lys, XP_024303934.1:p.Glu886Lys, XP_011517969.1:p.Glu897Lys, XP_011517968.1:p.Glu897Lys, XP_011517970.1:p.Glu867Lys, XP_011517971.1:p.Glu863Lys, XP_011517973.1:p.Glu897Lys, XP_011517972.1:p.Glu861Lys, XP_011517974.1:p.Glu860Lys, XP_011517975.1:p.Glu859Lys, XP_047281699.1:p.Glu897Lys, XP_047281700.1:p.Glu897Lys, XP_016872129.1:p.Glu897Lys, XP_011517976.1:p.Glu897Lys, XP_011517977.1:p.Glu827Lys, XP_006717568.1:p.Glu826Lys, XP_011517979.1:p.Glu823Lys, XP_011517978.1:p.Glu859Lys, XP_011517980.1:p.Glu822Lys, XP_006717569.1:p.Glu790Lys, XP_011517966.1:p.Glu897Lys, XP_047281702.1:p.Glu753Lys, XP_011517981.1:p.Glu720Lys, XP_016872132.1:p.Glu627Lys, NP_001382162.1:p.Glu432Lys, XP_047281703.1:p.Glu592Lys, XP_047281704.1:p.Glu470Lys, XP_016872135.1:p.Glu592Lys, XP_016872133.1:p.Glu897Lys, XP_016872137.1:p.Glu545Lys, XP_011517989.1:p.Glu300Lys

                        12.

                        rs1484801798 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          10:32584291 (GRCh38)
                          10:32873219 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:32584290:A:C
                          Gene:
                          CCDC7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000010.11:g.32584291A>C, NC_000010.10:g.32873219A>C, XM_011519684.4:c.1788A>C, XM_011519684.3:c.1788A>C, XM_011519684.2:c.1788A>C, XM_011519684.1:c.1788A>C, XM_011519686.3:c.1788A>C, XM_011519686.2:c.1788A>C, XM_011519686.1:c.1788A>C, XM_011519680.3:c.1128A>C, XM_011519680.2:c.1128A>C, XM_011519680.1:c.1128A>C, XM_017016647.3:c.1788A>C, XM_017016647.2:c.1788A>C, XM_017016647.1:c.1788A>C, XM_011519688.3:c.1788A>C, XM_011519688.2:c.1788A>C, XM_011519688.1:c.1788A>C, NM_001321115.2:c.1788A>C, NM_001321115.1:c.1788A>C, XM_017016642.2:c.1128A>C, XM_017016642.1:c.1128A>C, XM_017016641.2:c.1227A>C, XM_017016641.1:c.1227A>C, XM_011519683.2:c.867A>C, XM_011519683.1:c.867A>C, XM_017016649.2:c.507A>C, XM_017016649.1:c.507A>C, XM_017016652.2:c.30A>C, XM_017016652.1:c.30A>C, NM_024688.2:c.30A>C, XM_047425742.1:c.1788A>C, NM_001395015.1:c.1788A>C, XM_024448165.1:c.1767A>C, XM_024448166.1:c.1755A>C, XM_017016638.1:c.1788A>C, XM_011519667.1:c.1788A>C, XM_011519666.1:c.1788A>C, XM_011519668.1:c.1698A>C, XM_011519669.1:c.1788A>C, XM_011519671.1:c.1788A>C, XM_011519670.1:c.1788A>C, XM_011519672.1:c.1788A>C, XM_011519673.1:c.1788A>C, XM_047425743.1:c.1788A>C, XM_047425744.1:c.1788A>C, XM_017016640.1:c.1788A>C, XM_011519674.1:c.1788A>C, XM_011519675.1:c.1788A>C, XM_006717505.1:c.1788A>C, XM_011519677.1:c.1566A>C, XM_011519676.1:c.1788A>C, XM_011519678.1:c.1788A>C, XM_006717506.1:c.1788A>C, XM_011519664.1:c.1788A>C, XM_047425746.1:c.1788A>C, XM_011519679.1:c.1257A>C, XM_017016643.1:c.978A>C, NM_001395233.1:c.1050A>C, XM_047425747.1:c.873A>C, XM_047425748.1:c.507A>C, XM_017016646.1:c.873A>C, XM_017016644.1:c.1788A>C, XM_017016648.1:c.732A>C, XM_017016651.1:c.1788A>C

                          13.

                          rs1483559510 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:32726734 (GRCh38)
                            10:33015662 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:32726733:T:C
                            Gene:
                            CCDC7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000016/4 (GnomAD_exomes)
                            C=0.001092/2 (Korea1K)
                            C=0.001369/4 (KOREAN)
                            HGVS:
                            NC_000010.11:g.32726734T>C, NC_000010.10:g.33015662T>C, XM_011519684.4:c.2570T>C, XM_011519684.3:c.2570T>C, XM_011519684.2:c.2570T>C, XM_011519684.1:c.2570T>C, XM_011519686.3:c.2570T>C, XM_011519686.2:c.2570T>C, XM_011519686.1:c.2570T>C, XM_011519680.3:c.1910T>C, XM_011519680.2:c.1910T>C, XM_011519680.1:c.1910T>C, XM_017016647.3:c.2570T>C, XM_017016647.2:c.2570T>C, XM_017016647.1:c.2570T>C, NM_001321115.2:c.2570T>C, NM_001321115.1:c.2570T>C, XM_017016642.2:c.1910T>C, XM_017016642.1:c.1910T>C, XM_017016641.2:c.2009T>C, XM_017016641.1:c.2009T>C, XM_011519683.2:c.1649T>C, XM_011519683.1:c.1649T>C, XM_017016649.2:c.1289T>C, XM_017016649.1:c.1289T>C, XM_017016652.2:c.812T>C, XM_017016652.1:c.812T>C, NM_024688.2:c.491T>C, XM_047425742.1:c.2570T>C, NM_001395015.1:c.2570T>C, XM_024448165.1:c.2549T>C, XM_024448166.1:c.2537T>C, XM_017016638.1:c.2570T>C, XM_011519667.1:c.2570T>C, XM_011519666.1:c.2570T>C, XM_011519668.1:c.2480T>C, XM_011519669.1:c.2468T>C, XM_011519671.1:c.2570T>C, XM_011519670.1:c.2462T>C, XM_011519672.1:c.2459T>C, XM_011519673.1:c.2456T>C, XM_047425743.1:c.2570T>C, XM_047425744.1:c.2570T>C, XM_017016640.1:c.2570T>C, XM_011519674.1:c.2570T>C, XM_011519675.1:c.2360T>C, XM_006717505.1:c.2357T>C, XM_011519677.1:c.2348T>C, XM_011519676.1:c.2456T>C, XM_011519678.1:c.2345T>C, XM_006717506.1:c.2249T>C, XM_011519664.1:c.2570T>C, XM_047425746.1:c.2138T>C, XM_011519679.1:c.2039T>C, XM_017016643.1:c.1760T>C, NM_001395233.1:c.1175T>C, XM_047425747.1:c.1655T>C, XM_047425748.1:c.1289T>C, XM_017016646.1:c.1655T>C, XM_017016644.1:c.2570T>C, XM_017016648.1:c.1514T>C, XM_011519687.1:c.779T>C, XP_011517986.1:p.Ile857Thr, XP_011517988.1:p.Ile857Thr, XP_011517982.1:p.Ile637Thr, XP_016872136.1:p.Ile857Thr, NP_001308044.1:p.Ile857Thr, XP_016872131.1:p.Ile637Thr, XP_016872130.1:p.Ile670Thr, XP_011517985.1:p.Ile550Thr, XP_016872138.1:p.Ile430Thr, XP_016872141.1:p.Ile271Thr, XP_047281698.1:p.Ile857Thr, NP_001381944.1:p.Ile857Thr, XP_024303933.1:p.Ile850Thr, XP_024303934.1:p.Ile846Thr, XP_016872127.1:p.Ile857Thr, XP_011517969.1:p.Ile857Thr, XP_011517968.1:p.Ile857Thr, XP_011517970.1:p.Ile827Thr, XP_011517971.1:p.Ile823Thr, XP_011517973.1:p.Ile857Thr, XP_011517972.1:p.Ile821Thr, XP_011517974.1:p.Ile820Thr, XP_011517975.1:p.Ile819Thr, XP_047281699.1:p.Ile857Thr, XP_047281700.1:p.Ile857Thr, XP_016872129.1:p.Ile857Thr, XP_011517976.1:p.Ile857Thr, XP_011517977.1:p.Ile787Thr, XP_006717568.1:p.Ile786Thr, XP_011517979.1:p.Ile783Thr, XP_011517978.1:p.Ile819Thr, XP_011517980.1:p.Ile782Thr, XP_006717569.1:p.Ile750Thr, XP_011517966.1:p.Ile857Thr, XP_047281702.1:p.Ile713Thr, XP_011517981.1:p.Ile680Thr, XP_016872132.1:p.Ile587Thr, NP_001382162.1:p.Ile392Thr, XP_047281703.1:p.Ile552Thr, XP_047281704.1:p.Ile430Thr, XP_016872135.1:p.Ile552Thr, XP_016872133.1:p.Ile857Thr, XP_016872137.1:p.Ile505Thr, XP_011517989.1:p.Ile260Thr

                            14.

                            rs1483327598 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AG>- [Show Flanks]
                              Chromosome:
                              10:32544267 (GRCh38)
                              10:32833195 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:32544264:AGAG:AG
                              Gene:
                              CCDC7 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AGAG=0./0 (ALFA)
                              -=0.000014/2 (GnomAD)
                              -=0.00003/8 (TOPMED)
                              HGVS:
                              NC_000010.11:g.32544265AG[1], NC_000010.10:g.32833193AG[1], NM_145023.6:c.1100_1101del, NM_145023.5:c.1100_1101del, NM_145023.4:c.1100_1101del, XM_011519684.4:c.1100_1101del, XM_011519684.3:c.1100_1101del, XM_011519684.2:c.1100_1101del, XM_011519684.1:c.1100_1101del, XM_011519686.3:c.1100_1101del, XM_011519686.2:c.1100_1101del, XM_011519686.1:c.1100_1101del, XM_011519680.3:c.440_441del, XM_011519680.2:c.440_441del, XM_011519680.1:c.440_441del, XM_017016647.3:c.1100_1101del, XM_017016647.2:c.1100_1101del, XM_017016647.1:c.1100_1101del, XM_011519688.3:c.1100_1101del, XM_011519688.2:c.1100_1101del, XM_011519688.1:c.1100_1101del, NM_001026383.3:c.1100_1101del, NM_001026383.2:c.1100_1101del, NM_001026383.1:c.1100_1101del, NM_001321115.2:c.1100_1101del, NM_001321115.1:c.1100_1101del, XM_017016642.2:c.440_441del, XM_017016642.1:c.440_441del, XM_017016641.2:c.539_540del, XM_017016641.1:c.539_540del, XM_011519683.2:c.179_180del, XM_011519683.1:c.179_180del, NR_109826.2:n.1331AG[1], NR_109826.1:n.1389AG[1], XM_047425742.1:c.1100_1101del, NM_001395015.1:c.1100_1101del, XM_024448165.1:c.1079_1080del, XM_024448166.1:c.1067_1068del, XM_017016638.1:c.1100_1101del, XM_011519667.1:c.1100_1101del, XM_011519666.1:c.1100_1101del, XM_011519668.1:c.1010_1011del, XM_011519669.1:c.1100_1101del, XM_011519671.1:c.1100_1101del, XM_011519670.1:c.1100_1101del, XM_011519672.1:c.1100_1101del, XM_011519673.1:c.1100_1101del, XM_047425743.1:c.1100_1101del, XM_047425744.1:c.1100_1101del, XM_017016640.1:c.1100_1101del, XM_011519674.1:c.1100_1101del, XM_011519675.1:c.1100_1101del, XM_006717505.1:c.1100_1101del, XM_011519677.1:c.1100_1101del, XM_011519676.1:c.1100_1101del, XM_011519678.1:c.1100_1101del, XM_006717506.1:c.1100_1101del, XM_011519664.1:c.1100_1101del, XM_047425746.1:c.1100_1101del, XM_011519679.1:c.1100_1101del, XM_017016643.1:c.290_291del, NM_001395233.1:c.584_585del, XM_047425747.1:c.185_186del, XM_017016646.1:c.185_186del, XM_017016644.1:c.1100_1101del, XM_017016651.1:c.1100_1101del, NP_659460.3:p.Glu367fs, XP_011517986.1:p.Glu367fs, XP_011517988.1:p.Glu367fs, XP_011517982.1:p.Glu147fs, XP_016872136.1:p.Glu367fs, XP_011517990.1:p.Glu367fs, NP_001021554.1:p.Glu367fs, NP_001308044.1:p.Glu367fs, XP_016872131.1:p.Glu147fs, XP_016872130.1:p.Glu180fs, XP_011517985.1:p.Glu60fs, XP_047281698.1:p.Glu367fs, NP_001381944.1:p.Glu367fs, XP_024303933.1:p.Glu360fs, XP_024303934.1:p.Glu356fs, XP_016872127.1:p.Glu367fs, XP_011517969.1:p.Glu367fs, XP_011517968.1:p.Glu367fs, XP_011517970.1:p.Glu337fs, XP_011517971.1:p.Glu367fs, XP_011517973.1:p.Glu367fs, XP_011517972.1:p.Glu367fs, XP_011517974.1:p.Glu367fs, XP_011517975.1:p.Glu367fs, XP_047281699.1:p.Glu367fs, XP_047281700.1:p.Glu367fs, XP_016872129.1:p.Glu367fs, XP_011517976.1:p.Glu367fs, XP_011517977.1:p.Glu367fs, XP_006717568.1:p.Glu367fs, XP_011517979.1:p.Glu367fs, XP_011517978.1:p.Glu367fs, XP_011517980.1:p.Glu367fs, XP_006717569.1:p.Glu367fs, XP_011517966.1:p.Glu367fs, XP_047281702.1:p.Glu367fs, XP_011517981.1:p.Glu367fs, XP_016872132.1:p.Glu97fs, NP_001382162.1:p.Glu195fs, XP_047281703.1:p.Glu62fs, XP_016872135.1:p.Glu62fs, XP_016872133.1:p.Glu367fs, XP_016872140.1:p.Glu367fs

                              15.

                              rs1482891938 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                10:32473970 (GRCh38)
                                10:32762898 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:32473969:T:G
                                Gene:
                                CCDC7 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.32473970T>G, NC_000010.10:g.32762898T>G, NM_145023.6:c.743T>G, NM_145023.5:c.743T>G, NM_145023.4:c.743T>G, XM_011519684.4:c.743T>G, XM_011519684.3:c.743T>G, XM_011519684.2:c.743T>G, XM_011519684.1:c.743T>G, XM_011519686.3:c.743T>G, XM_011519686.2:c.743T>G, XM_011519686.1:c.743T>G, XM_011519680.3:c.83T>G, XM_011519680.2:c.83T>G, XM_011519680.1:c.83T>G, XM_017016647.3:c.743T>G, XM_017016647.2:c.743T>G, XM_017016647.1:c.743T>G, XM_011519688.3:c.743T>G, XM_011519688.2:c.743T>G, XM_011519688.1:c.743T>G, NM_001026383.3:c.743T>G, NM_001026383.2:c.743T>G, NM_001026383.1:c.743T>G, NM_001321115.2:c.743T>G, NM_001321115.1:c.743T>G, XM_017016642.2:c.83T>G, XM_017016642.1:c.83T>G, XM_017016641.2:c.182T>G, XM_017016641.1:c.182T>G, NR_109827.2:n.1119T>G, NR_109827.1:n.1177T>G, NR_109826.2:n.1052T>G, NR_109826.1:n.1110T>G, XM_047425742.1:c.743T>G, NM_001395015.1:c.743T>G, XM_024448165.1:c.722T>G, XM_024448166.1:c.710T>G, XM_017016638.1:c.743T>G, XM_011519667.1:c.743T>G, XM_011519666.1:c.743T>G, XM_011519668.1:c.743T>G, XM_011519669.1:c.743T>G, XM_011519671.1:c.743T>G, XM_011519670.1:c.743T>G, XM_011519672.1:c.743T>G, XM_011519673.1:c.743T>G, XM_047425743.1:c.743T>G, XM_047425744.1:c.743T>G, XM_017016640.1:c.743T>G, XM_011519674.1:c.743T>G, XM_011519675.1:c.743T>G, XM_006717505.1:c.743T>G, XM_011519677.1:c.743T>G, XM_011519676.1:c.743T>G, XM_011519678.1:c.743T>G, XM_006717506.1:c.743T>G, XM_011519664.1:c.743T>G, XM_047425746.1:c.743T>G, XM_011519679.1:c.743T>G, XM_017016643.1:c.-68T>G, XM_047425747.1:c.-97T>G, XM_017016644.1:c.743T>G, XM_017016651.1:c.743T>G, NP_659460.3:p.Phe248Cys, XP_011517986.1:p.Phe248Cys, XP_011517988.1:p.Phe248Cys, XP_011517982.1:p.Phe28Cys, XP_016872136.1:p.Phe248Cys, XP_011517990.1:p.Phe248Cys, NP_001021554.1:p.Phe248Cys, NP_001308044.1:p.Phe248Cys, XP_016872131.1:p.Phe28Cys, XP_016872130.1:p.Phe61Cys, XP_047281698.1:p.Phe248Cys, NP_001381944.1:p.Phe248Cys, XP_024303933.1:p.Phe241Cys, XP_024303934.1:p.Phe237Cys, XP_016872127.1:p.Phe248Cys, XP_011517969.1:p.Phe248Cys, XP_011517968.1:p.Phe248Cys, XP_011517970.1:p.Phe248Cys, XP_011517971.1:p.Phe248Cys, XP_011517973.1:p.Phe248Cys, XP_011517972.1:p.Phe248Cys, XP_011517974.1:p.Phe248Cys, XP_011517975.1:p.Phe248Cys, XP_047281699.1:p.Phe248Cys, XP_047281700.1:p.Phe248Cys, XP_016872129.1:p.Phe248Cys, XP_011517976.1:p.Phe248Cys, XP_011517977.1:p.Phe248Cys, XP_006717568.1:p.Phe248Cys, XP_011517979.1:p.Phe248Cys, XP_011517978.1:p.Phe248Cys, XP_011517980.1:p.Phe248Cys, XP_006717569.1:p.Phe248Cys, XP_011517966.1:p.Phe248Cys, XP_047281702.1:p.Phe248Cys, XP_011517981.1:p.Phe248Cys, XP_016872133.1:p.Phe248Cys, XP_016872140.1:p.Phe248Cys

                                16.

                                rs1482891109 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AA>- [Show Flanks]
                                  Chromosome:
                                  10:32846447 (GRCh38)
                                  10:33135375 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:32846445:AAA:A
                                  Gene:
                                  CCDC7 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.32846447_32846448del, NC_000010.10:g.33135375_33135376del, XM_011519680.3:c.3016_3017del, XM_011519680.2:c.3016_3017del, XM_011519680.1:c.3016_3017del, NM_001321115.2:c.3676_3677del, NM_001321115.1:c.3676_3677del, XM_017016642.2:c.3016_3017del, XM_017016642.1:c.3016_3017del, XM_017016641.2:c.3115_3116del, XM_017016641.1:c.3115_3116del, XM_011519683.2:c.2755_2756del, XM_011519683.1:c.2755_2756del, XM_017016649.2:c.2395_2396del, XM_017016649.1:c.2395_2396del, XM_017016652.2:c.1918_1919del, XM_017016652.1:c.1918_1919del, NM_024688.2:c.1405_1406del, XM_047425742.1:c.3676_3677del, NM_001395015.1:c.3676_3677del, XM_024448165.1:c.3655_3656del, XM_024448166.1:c.3643_3644del, XM_017016638.1:c.3631_3632del, XM_011519667.1:c.3592_3593del, XM_011519666.1:c.3592_3593del, XM_011519668.1:c.3586_3587del, XM_011519669.1:c.3574_3575del, XM_011519671.1:c.3568_3569del, XM_011519670.1:c.3568_3569del, XM_011519672.1:c.3565_3566del, XM_011519673.1:c.3562_3563del, XM_047425743.1:c.3676_3677del, XM_047425744.1:c.3508_3509del, XM_017016640.1:c.3484_3485del, XM_011519674.1:c.3484_3485del, XM_011519675.1:c.3466_3467del, XM_006717505.1:c.3463_3464del, XM_011519677.1:c.3454_3455del, XM_011519676.1:c.3454_3455del, XM_011519678.1:c.3451_3452del, XM_006717506.1:c.3355_3356del, XM_011519664.1:c.3676_3677del, XM_047425746.1:c.3244_3245del, XM_011519679.1:c.3145_3146del, XM_017016643.1:c.2866_2867del, XM_047425747.1:c.2761_2762del, XM_047425748.1:c.2395_2396del, XM_017016646.1:c.2761_2762del, XM_017016648.1:c.2620_2621del, XM_011519687.1:c.1885_1886del, XP_011517982.1:p.Lys1006fs, NP_001308044.1:p.Lys1226fs, XP_016872131.1:p.Lys1006fs, XP_016872130.1:p.Lys1039fs, XP_011517985.1:p.Lys919fs, XP_016872138.1:p.Lys799fs, XP_016872141.1:p.Lys640fs, XP_047281698.1:p.Lys1226fs, NP_001381944.1:p.Lys1226fs, XP_024303933.1:p.Lys1219fs, XP_024303934.1:p.Lys1215fs, XP_016872127.1:p.Lys1211fs, XP_011517969.1:p.Lys1198fs, XP_011517968.1:p.Lys1198fs, XP_011517970.1:p.Lys1196fs, XP_011517971.1:p.Lys1192fs, XP_011517973.1:p.Lys1190fs, XP_011517972.1:p.Lys1190fs, XP_011517974.1:p.Lys1189fs, XP_011517975.1:p.Lys1188fs, XP_047281699.1:p.Lys1226fs, XP_047281700.1:p.Lys1170fs, XP_016872129.1:p.Lys1162fs, XP_011517976.1:p.Lys1162fs, XP_011517977.1:p.Lys1156fs, XP_006717568.1:p.Lys1155fs, XP_011517979.1:p.Lys1152fs, XP_011517978.1:p.Lys1152fs, XP_011517980.1:p.Lys1151fs, XP_006717569.1:p.Lys1119fs, XP_011517966.1:p.Lys1226fs, XP_047281702.1:p.Lys1082fs, XP_011517981.1:p.Lys1049fs, XP_016872132.1:p.Lys956fs, XP_047281703.1:p.Lys921fs, XP_047281704.1:p.Lys799fs, XP_016872135.1:p.Lys921fs, XP_016872137.1:p.Lys874fs, XP_011517989.1:p.Lys629fs

                                  17.

                                  rs1482441348 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    10:32848597 (GRCh38)
                                    10:33137525 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:32848596:T:C
                                    Gene:
                                    CCDC7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.32848597T>C, NC_000010.10:g.33137525T>C, XM_011519680.3:c.3114T>C, XM_011519680.2:c.3114T>C, XM_011519680.1:c.3114T>C, NM_001321115.2:c.3774T>C, NM_001321115.1:c.3774T>C, XM_017016642.2:c.3114T>C, XM_017016642.1:c.3114T>C, XM_017016641.2:c.3213T>C, XM_017016641.1:c.3213T>C, XM_011519683.2:c.2853T>C, XM_011519683.1:c.2853T>C, XM_017016649.2:c.2493T>C, XM_017016649.1:c.2493T>C, XM_017016652.2:c.2016T>C, XM_017016652.1:c.2016T>C, NM_024688.2:c.1503T>C, XM_047425742.1:c.3774T>C, NM_001395015.1:c.3774T>C, XM_024448165.1:c.3753T>C, XM_024448166.1:c.3741T>C, XM_017016638.1:c.3729T>C, XM_011519667.1:c.3690T>C, XM_011519666.1:c.3690T>C, XM_011519668.1:c.3684T>C, XM_011519669.1:c.3672T>C, XM_011519671.1:c.3666T>C, XM_011519670.1:c.3666T>C, XM_011519672.1:c.3663T>C, XM_011519673.1:c.3660T>C, XM_047425743.1:c.3774T>C, XM_047425744.1:c.3606T>C, XM_017016640.1:c.3582T>C, XM_011519674.1:c.3582T>C, XM_011519675.1:c.3564T>C, XM_006717505.1:c.3561T>C, XM_011519677.1:c.3552T>C, XM_011519676.1:c.3552T>C, XM_011519678.1:c.3549T>C, XM_006717506.1:c.3453T>C, XM_011519664.1:c.3774T>C, XM_047425746.1:c.3342T>C, XM_011519679.1:c.3243T>C, XM_017016643.1:c.2964T>C, XM_047425747.1:c.2859T>C, XM_047425748.1:c.2493T>C, XM_017016646.1:c.2859T>C, XM_017016648.1:c.2718T>C, XM_011519687.1:c.1983T>C

                                    18.

                                    rs1480320653 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      10:32854482 (GRCh38)
                                      10:33143410 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:32854481:C:A,NC_000010.11:32854481:C:G
                                      Gene:
                                      CCDC7 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000010.11:g.32854482C>A, NC_000010.11:g.32854482C>G, NC_000010.10:g.33143410C>A, NC_000010.10:g.33143410C>G, XM_011519680.3:c.3444C>A, XM_011519680.3:c.3444C>G, XM_011519680.2:c.3444C>A, XM_011519680.2:c.3444C>G, XM_011519680.1:c.3444C>A, XM_011519680.1:c.3444C>G, NM_001321115.2:c.4104C>A, NM_001321115.2:c.4104C>G, NM_001321115.1:c.4104C>A, NM_001321115.1:c.4104C>G, XM_017016642.2:c.3444C>A, XM_017016642.2:c.3444C>G, XM_017016642.1:c.3444C>A, XM_017016642.1:c.3444C>G, XM_017016641.2:c.3543C>A, XM_017016641.2:c.3543C>G, XM_017016641.1:c.3543C>A, XM_017016641.1:c.3543C>G, XM_011519683.2:c.3183C>A, XM_011519683.2:c.3183C>G, XM_011519683.1:c.3183C>A, XM_011519683.1:c.3183C>G, XM_017016649.2:c.2823C>A, XM_017016649.2:c.2823C>G, XM_017016649.1:c.2823C>A, XM_017016649.1:c.2823C>G, XM_017016652.2:c.2346C>A, XM_017016652.2:c.2346C>G, XM_017016652.1:c.2346C>A, XM_017016652.1:c.2346C>G, NM_024688.2:c.1833C>A, NM_024688.2:c.1833C>G, XM_047425742.1:c.4104C>A, XM_047425742.1:c.4104C>G, NM_001395015.1:c.4104C>A, NM_001395015.1:c.4104C>G, XM_024448165.1:c.4083C>A, XM_024448165.1:c.4083C>G, XM_024448166.1:c.4071C>A, XM_024448166.1:c.4071C>G, XM_017016638.1:c.4059C>A, XM_017016638.1:c.4059C>G, XM_011519667.1:c.4020C>A, XM_011519667.1:c.4020C>G, XM_011519666.1:c.4020C>A, XM_011519666.1:c.4020C>G, XM_011519668.1:c.4014C>A, XM_011519668.1:c.4014C>G, XM_011519669.1:c.4002C>A, XM_011519669.1:c.4002C>G, XM_011519671.1:c.3996C>A, XM_011519671.1:c.3996C>G, XM_011519670.1:c.3996C>A, XM_011519670.1:c.3996C>G, XM_011519672.1:c.3993C>A, XM_011519672.1:c.3993C>G, XM_011519673.1:c.3990C>A, XM_011519673.1:c.3990C>G, XM_047425743.1:c.4104C>A, XM_047425743.1:c.4104C>G, XM_047425744.1:c.3936C>A, XM_047425744.1:c.3936C>G, XM_017016640.1:c.3912C>A, XM_017016640.1:c.3912C>G, XM_011519674.1:c.3912C>A, XM_011519674.1:c.3912C>G, XM_011519675.1:c.3894C>A, XM_011519675.1:c.3894C>G, XM_006717505.1:c.3891C>A, XM_006717505.1:c.3891C>G, XM_011519677.1:c.3882C>A, XM_011519677.1:c.3882C>G, XM_011519676.1:c.3882C>A, XM_011519676.1:c.3882C>G, XM_011519678.1:c.3879C>A, XM_011519678.1:c.3879C>G, XM_006717506.1:c.3783C>A, XM_006717506.1:c.3783C>G, XM_011519664.1:c.4104C>A, XM_011519664.1:c.4104C>G, XM_047425746.1:c.3672C>A, XM_047425746.1:c.3672C>G, XM_011519679.1:c.3573C>A, XM_011519679.1:c.3573C>G, XM_017016643.1:c.3294C>A, XM_017016643.1:c.3294C>G, XM_047425747.1:c.3189C>A, XM_047425747.1:c.3189C>G, XM_047425748.1:c.2823C>A, XM_047425748.1:c.2823C>G, XM_017016646.1:c.3189C>A, XM_017016646.1:c.3189C>G, XM_017016648.1:c.3048C>A, XM_017016648.1:c.3048C>G, XM_011519687.1:c.2313C>A, XM_011519687.1:c.2313C>G

                                      19.

                                      rs1479961086 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        10:32664138 (GRCh38)
                                        10:32953066 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:32664137:C:A
                                        Gene:
                                        CCDC7 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.32664138C>A, NC_000010.10:g.32953066C>A, XM_011519684.4:c.2099C>A, XM_011519684.3:c.2099C>A, XM_011519684.2:c.2099C>A, XM_011519684.1:c.2099C>A, XM_011519686.3:c.2099C>A, XM_011519686.2:c.2099C>A, XM_011519686.1:c.2099C>A, XM_011519680.3:c.1439C>A, XM_011519680.2:c.1439C>A, XM_011519680.1:c.1439C>A, XM_017016647.3:c.2099C>A, XM_017016647.2:c.2099C>A, XM_017016647.1:c.2099C>A, XM_011519688.3:c.2099C>A, XM_011519688.2:c.2099C>A, XM_011519688.1:c.2099C>A, NM_001321115.2:c.2099C>A, NM_001321115.1:c.2099C>A, XM_017016642.2:c.1439C>A, XM_017016642.1:c.1439C>A, XM_017016641.2:c.1538C>A, XM_017016641.1:c.1538C>A, XM_011519683.2:c.1178C>A, XM_011519683.1:c.1178C>A, XM_017016649.2:c.818C>A, XM_017016649.1:c.818C>A, XM_017016652.2:c.341C>A, XM_017016652.1:c.341C>A, XM_047425742.1:c.2099C>A, NM_001395015.1:c.2099C>A, XM_024448165.1:c.2078C>A, XM_024448166.1:c.2066C>A, XM_017016638.1:c.2099C>A, XM_011519667.1:c.2099C>A, XM_011519666.1:c.2099C>A, XM_011519668.1:c.2009C>A, XM_011519669.1:c.1997C>A, XM_011519671.1:c.2099C>A, XM_011519672.1:c.2099C>A, XM_011519673.1:c.2099C>A, XM_047425743.1:c.2099C>A, XM_047425744.1:c.2099C>A, XM_017016640.1:c.2099C>A, XM_011519674.1:c.2099C>A, XM_006717505.1:c.1886C>A, XM_011519677.1:c.1877C>A, XM_011519676.1:c.2099C>A, XM_011519678.1:c.2099C>A, XM_011519664.1:c.2099C>A, XM_011519679.1:c.1568C>A, XM_017016643.1:c.1289C>A, XM_047425747.1:c.1184C>A, XM_047425748.1:c.818C>A, XM_017016646.1:c.1184C>A, XM_017016644.1:c.2099C>A, XM_017016648.1:c.1043C>A, XM_017016651.1:c.2099C>A, XM_011519687.1:c.308C>A, XP_011517986.1:p.Ser700Tyr, XP_011517988.1:p.Ser700Tyr, XP_011517982.1:p.Ser480Tyr, XP_016872136.1:p.Ser700Tyr, XP_011517990.1:p.Ser700Tyr, NP_001308044.1:p.Ser700Tyr, XP_016872131.1:p.Ser480Tyr, XP_016872130.1:p.Ser513Tyr, XP_011517985.1:p.Ser393Tyr, XP_016872138.1:p.Ser273Tyr, XP_016872141.1:p.Ser114Tyr, XP_047281698.1:p.Ser700Tyr, NP_001381944.1:p.Ser700Tyr, XP_024303933.1:p.Ser693Tyr, XP_024303934.1:p.Ser689Tyr, XP_016872127.1:p.Ser700Tyr, XP_011517969.1:p.Ser700Tyr, XP_011517968.1:p.Ser700Tyr, XP_011517970.1:p.Ser670Tyr, XP_011517971.1:p.Ser666Tyr, XP_011517973.1:p.Ser700Tyr, XP_011517974.1:p.Ser700Tyr, XP_011517975.1:p.Ser700Tyr, XP_047281699.1:p.Ser700Tyr, XP_047281700.1:p.Ser700Tyr, XP_016872129.1:p.Ser700Tyr, XP_011517976.1:p.Ser700Tyr, XP_006717568.1:p.Ser629Tyr, XP_011517979.1:p.Ser626Tyr, XP_011517978.1:p.Ser700Tyr, XP_011517980.1:p.Ser700Tyr, XP_011517966.1:p.Ser700Tyr, XP_011517981.1:p.Ser523Tyr, XP_016872132.1:p.Ser430Tyr, XP_047281703.1:p.Ser395Tyr, XP_047281704.1:p.Ser273Tyr, XP_016872135.1:p.Ser395Tyr, XP_016872133.1:p.Ser700Tyr, XP_016872137.1:p.Ser348Tyr, XP_016872140.1:p.Ser700Tyr, XP_011517989.1:p.Ser103Tyr

                                        20.

                                        rs1479164484 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          10:32851831 (GRCh38)
                                          10:33140759 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:32851830:C:G
                                          Gene:
                                          CCDC7 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.00092/15 (TOMMO)
                                          HGVS:
                                          NC_000010.11:g.32851831C>G, NC_000010.10:g.33140759C>G, XM_011519680.3:c.3260C>G, XM_011519680.2:c.3260C>G, XM_011519680.1:c.3260C>G, NM_001321115.2:c.3920C>G, NM_001321115.1:c.3920C>G, XM_017016642.2:c.3260C>G, XM_017016642.1:c.3260C>G, XM_017016641.2:c.3359C>G, XM_017016641.1:c.3359C>G, XM_011519683.2:c.2999C>G, XM_011519683.1:c.2999C>G, XM_017016649.2:c.2639C>G, XM_017016649.1:c.2639C>G, XM_017016652.2:c.2162C>G, XM_017016652.1:c.2162C>G, NM_024688.2:c.1649C>G, XM_047425742.1:c.3920C>G, NM_001395015.1:c.3920C>G, XM_024448165.1:c.3899C>G, XM_024448166.1:c.3887C>G, XM_017016638.1:c.3875C>G, XM_011519667.1:c.3836C>G, XM_011519666.1:c.3836C>G, XM_011519668.1:c.3830C>G, XM_011519669.1:c.3818C>G, XM_011519671.1:c.3812C>G, XM_011519670.1:c.3812C>G, XM_011519672.1:c.3809C>G, XM_011519673.1:c.3806C>G, XM_047425743.1:c.3920C>G, XM_047425744.1:c.3752C>G, XM_017016640.1:c.3728C>G, XM_011519674.1:c.3728C>G, XM_011519675.1:c.3710C>G, XM_006717505.1:c.3707C>G, XM_011519677.1:c.3698C>G, XM_011519676.1:c.3698C>G, XM_011519678.1:c.3695C>G, XM_006717506.1:c.3599C>G, XM_011519664.1:c.3920C>G, XM_047425746.1:c.3488C>G, XM_011519679.1:c.3389C>G, XM_017016643.1:c.3110C>G, XM_047425747.1:c.3005C>G, XM_047425748.1:c.2639C>G, XM_017016646.1:c.3005C>G, XM_017016648.1:c.2864C>G, XM_011519687.1:c.2129C>G, XP_011517982.1:p.Pro1087Arg, NP_001308044.1:p.Pro1307Arg, XP_016872131.1:p.Pro1087Arg, XP_016872130.1:p.Pro1120Arg, XP_011517985.1:p.Pro1000Arg, XP_016872138.1:p.Pro880Arg, XP_016872141.1:p.Pro721Arg, XP_047281698.1:p.Pro1307Arg, NP_001381944.1:p.Pro1307Arg, XP_024303933.1:p.Pro1300Arg, XP_024303934.1:p.Pro1296Arg, XP_016872127.1:p.Pro1292Arg, XP_011517969.1:p.Pro1279Arg, XP_011517968.1:p.Pro1279Arg, XP_011517970.1:p.Pro1277Arg, XP_011517971.1:p.Pro1273Arg, XP_011517973.1:p.Pro1271Arg, XP_011517972.1:p.Pro1271Arg, XP_011517974.1:p.Pro1270Arg, XP_011517975.1:p.Pro1269Arg, XP_047281699.1:p.Pro1307Arg, XP_047281700.1:p.Pro1251Arg, XP_016872129.1:p.Pro1243Arg, XP_011517976.1:p.Pro1243Arg, XP_011517977.1:p.Pro1237Arg, XP_006717568.1:p.Pro1236Arg, XP_011517979.1:p.Pro1233Arg, XP_011517978.1:p.Pro1233Arg, XP_011517980.1:p.Pro1232Arg, XP_006717569.1:p.Pro1200Arg, XP_011517966.1:p.Pro1307Arg, XP_047281702.1:p.Pro1163Arg, XP_011517981.1:p.Pro1130Arg, XP_016872132.1:p.Pro1037Arg, XP_047281703.1:p.Pro1002Arg, XP_047281704.1:p.Pro880Arg, XP_016872135.1:p.Pro1002Arg, XP_016872137.1:p.Pro955Arg, XP_011517989.1:p.Pro710Arg

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