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1.

rs1491578543 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    3:56621593 (GRCh38)
    3:56655621 (GRCh37)
    Canonical SPDI:
    NC_000003.12:56621592:AA:
    Gene:
    TASOR (Varview), CCDC66 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000014/2 (GnomAD)
    HGVS:
    NC_000003.12:g.56621593_56621594del, NC_000003.11:g.56655621_56655622del, XM_005265082.5:c.2819_2820del, XM_005265082.4:c.2819_2820del, XM_005265082.3:c.2819_2820del, XM_005265082.2:c.2819_2820del, XM_005265082.1:c.2819_2820del, NM_001012506.5:c.2720_2721del, NM_001012506.4:c.2720_2721del, XM_005265083.5:c.2711_2712del, XM_005265083.4:c.2711_2712del, XM_005265083.3:c.2711_2712del, XM_005265083.2:c.2711_2712del, XM_005265083.1:c.2711_2712del, XM_011533616.4:c.2738_2739del, XM_011533616.3:c.2738_2739del, XM_011533616.2:c.2738_2739del, XM_011533616.1:c.2738_2739del, NM_015224.3:c.*1443_*1444del, XM_011533615.3:c.2741_2742del, XM_011533615.2:c.2741_2742del, XM_011533615.1:c.2741_2742del, NM_001141947.3:c.2822_2823del, NM_001141947.2:c.2822_2823del, NM_001141947.1:c.2822_2823del, NM_001112736.2:c.*2194_*2195del, NM_001112736.1:c.*2194_*2195del, NM_001365637.2:c.*2194_*2195del, NM_001365637.1:c.*2194_*2195del, NM_001365638.2:c.*2194_*2195del, NM_001365638.1:c.*2194_*2195del, NM_001365635.2:c.*1443_*1444del, NM_001365635.1:c.*1443_*1444del, NM_001365636.2:c.*1443_*1444del, NM_001365636.1:c.*1443_*1444del, XM_024453462.2:c.2738_2739del, XM_024453462.1:c.2738_2739del, NR_024460.2:n.2890_2891del, NR_024460.1:n.2890_2891del, XM_024453464.2:c.2240_2241del, XM_024453464.1:c.2240_2241del, XM_017006239.2:c.1943_1944del, XM_017006239.1:c.1943_1944del, NM_001363940.1:c.*1443_*1444del, XM_047447814.1:c.*1443_*1444del, XM_047447815.1:c.*1443_*1444del, NR_148371.1:n.3103_3104del, NR_148374.1:n.3093_3094del, NR_148373.1:n.3091_3092del, XM_047448017.1:c.2738_2739del, NM_001353160.1:c.1730_1731del, NR_148372.1:n.3076_3077del, XM_047448018.1:c.2717_2718del, NM_001353152.1:c.2720_2721del, NR_148367.1:n.3024_3025del, NR_148366.1:n.3020_3021del, NM_001353156.1:c.1925_1926del, NR_148376.1:n.2973_2974del, NM_001353158.1:c.1796_1797del, NR_148375.1:n.2960_2961del, NR_148368.1:n.2941_2942del, NM_001353147.1:c.2840_2841del, NR_148377.1:n.2922_2923del, NM_001353153.1:c.2720_2721del, NR_148370.1:n.2894_2895del, NR_148369.1:n.2892_2893del, NM_001353148.1:c.2804_2805del, NM_001139489.1:c.2720_2721del, NM_001353149.1:c.2801_2802del, NM_001353151.1:c.2723_2724del, NM_001353150.1:c.2753_2754del, NR_148378.1:n.2791_2792del, NM_001353154.1:c.2693_2694del, XM_047448019.1:c.2690_2691del, NM_001353155.1:c.2672_2673del, XM_047448020.1:c.1814_1815del, XP_005265139.1:p.Glu940fs, NP_001012524.4:p.Glu907fs, XP_005265140.1:p.Glu904fs, XP_011531918.1:p.Glu913fs, XP_011531917.1:p.Glu914fs, NP_001135419.1:p.Glu941fs, XP_024309230.1:p.Glu913fs, XP_024309232.1:p.Glu747fs, XP_016861728.1:p.Glu648fs, XP_047303973.1:p.Glu913fs, NP_001340089.1:p.Glu577fs, XP_047303974.1:p.Glu906fs, NP_001340081.1:p.Glu907fs, NP_001340085.1:p.Glu642fs, NP_001340087.1:p.Glu599fs, NP_001340076.1:p.Glu947fs, NP_001340082.1:p.Glu907fs, NP_001340077.1:p.Glu935fs, NP_001340078.1:p.Glu934fs, NP_001340080.1:p.Glu908fs, NP_001340079.1:p.Glu918fs, NP_001340083.1:p.Glu898fs, XP_047303975.1:p.Glu897fs, NP_001340084.1:p.Glu891fs, XP_047303976.1:p.Glu605fs

    2.

    rs1490034324 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      3:56617202 (GRCh38)
      3:56651230 (GRCh37)
      Canonical SPDI:
      NC_000003.12:56617201:TTT:TT
      Gene:
      CCDC66 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.56617204del, NC_000003.11:g.56651232del, XM_005265082.5:c.1933del, XM_005265082.4:c.1933del, XM_005265082.3:c.1933del, XM_005265082.2:c.1933del, XM_005265082.1:c.1933del, NM_001012506.5:c.1834del, NM_001012506.4:c.1834del, XM_005265083.5:c.1825del, XM_005265083.4:c.1825del, XM_005265083.3:c.1825del, XM_005265083.2:c.1825del, XM_005265083.1:c.1825del, XM_011533616.4:c.1852del, XM_011533616.3:c.1852del, XM_011533616.2:c.1852del, XM_011533616.1:c.1852del, XM_011533615.3:c.1855del, XM_011533615.2:c.1855del, XM_011533615.1:c.1855del, NM_001141947.3:c.1936del, NM_001141947.2:c.1936del, NM_001141947.1:c.1936del, XM_024453462.2:c.1852del, XM_024453462.1:c.1852del, NR_024460.2:n.2004del, NR_024460.1:n.2004del, XM_024453464.2:c.1354del, XM_024453464.1:c.1354del, XM_017006239.2:c.1057del, XM_017006239.1:c.1057del, NR_148371.1:n.2217del, NR_148374.1:n.2207del, NR_148373.1:n.2205del, XM_047448017.1:c.1852del, NM_001353160.1:c.844del, NR_148372.1:n.2190del, XM_047448018.1:c.1831del, NM_001353152.1:c.1834del, NR_148367.1:n.2138del, NR_148366.1:n.2134del, NM_001353156.1:c.1039del, NR_148376.1:n.2087del, NM_001353158.1:c.910del, NR_148375.1:n.2074del, NR_148368.1:n.2055del, NM_001353147.1:c.1954del, NR_148377.1:n.2036del, NM_001353153.1:c.1834del, NR_148370.1:n.2008del, NR_148369.1:n.2006del, NM_001353148.1:c.1918del, NM_001139489.1:c.1834del, NM_001353149.1:c.1915del, NM_001353151.1:c.1837del, NM_001353150.1:c.1867del, NR_148378.1:n.1905del, NM_001353154.1:c.1807del, XM_047448019.1:c.1804del, NM_001353155.1:c.1786del, XM_047448020.1:c.928del, XP_005265139.1:p.Ser645fs, NP_001012524.4:p.Ser612fs, XP_005265140.1:p.Ser609fs, XP_011531918.1:p.Ser618fs, XP_011531917.1:p.Ser619fs, NP_001135419.1:p.Ser646fs, XP_024309230.1:p.Ser618fs, XP_024309232.1:p.Ser452fs, XP_016861728.1:p.Ser353fs, XP_047303973.1:p.Ser618fs, NP_001340089.1:p.Ser282fs, XP_047303974.1:p.Ser611fs, NP_001340081.1:p.Ser612fs, NP_001340085.1:p.Ser347fs, NP_001340087.1:p.Ser304fs, NP_001340076.1:p.Ser652fs, NP_001340082.1:p.Ser612fs, NP_001340077.1:p.Ser640fs, NP_001340078.1:p.Ser639fs, NP_001340080.1:p.Ser613fs, NP_001340079.1:p.Ser623fs, NP_001340083.1:p.Ser603fs, XP_047303975.1:p.Ser602fs, NP_001340084.1:p.Ser596fs, XP_047303976.1:p.Ser310fs

      3.

      rs1489030370 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:56617590 (GRCh38)
        3:56651618 (GRCh37)
        Canonical SPDI:
        NC_000003.12:56617589:G:A
        Gene:
        CCDC66 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000023/6 (TOPMED)
        HGVS:
        NC_000003.12:g.56617590G>A, NC_000003.11:g.56651618G>A, XM_005265082.5:c.2319G>A, XM_005265082.4:c.2319G>A, XM_005265082.3:c.2319G>A, XM_005265082.2:c.2319G>A, XM_005265082.1:c.2319G>A, NM_001012506.5:c.2220G>A, NM_001012506.4:c.2220G>A, XM_005265083.5:c.2211G>A, XM_005265083.4:c.2211G>A, XM_005265083.3:c.2211G>A, XM_005265083.2:c.2211G>A, XM_005265083.1:c.2211G>A, XM_011533616.4:c.2238G>A, XM_011533616.3:c.2238G>A, XM_011533616.2:c.2238G>A, XM_011533616.1:c.2238G>A, XM_011533615.3:c.2241G>A, XM_011533615.2:c.2241G>A, XM_011533615.1:c.2241G>A, NM_001141947.3:c.2322G>A, NM_001141947.2:c.2322G>A, NM_001141947.1:c.2322G>A, XM_024453462.2:c.2238G>A, XM_024453462.1:c.2238G>A, NR_024460.2:n.2390G>A, NR_024460.1:n.2390G>A, XM_024453464.2:c.1740G>A, XM_024453464.1:c.1740G>A, XM_017006239.2:c.1443G>A, XM_017006239.1:c.1443G>A, NR_148371.1:n.2603G>A, NR_148374.1:n.2593G>A, NR_148373.1:n.2591G>A, XM_047448017.1:c.2238G>A, NM_001353160.1:c.1230G>A, NR_148372.1:n.2576G>A, XM_047448018.1:c.2217G>A, NM_001353152.1:c.2220G>A, NR_148367.1:n.2524G>A, NR_148366.1:n.2520G>A, NM_001353156.1:c.1425G>A, NR_148376.1:n.2473G>A, NM_001353158.1:c.1296G>A, NR_148375.1:n.2460G>A, NR_148368.1:n.2441G>A, NM_001353147.1:c.2340G>A, NR_148377.1:n.2422G>A, NM_001353153.1:c.2220G>A, NR_148370.1:n.2394G>A, NR_148369.1:n.2392G>A, NM_001353148.1:c.2304G>A, NM_001139489.1:c.2220G>A, NM_001353149.1:c.2301G>A, NM_001353151.1:c.2223G>A, NM_001353150.1:c.2253G>A, NR_148378.1:n.2291G>A, NM_001353154.1:c.2193G>A, XM_047448019.1:c.2190G>A, NM_001353155.1:c.2172G>A, XM_047448020.1:c.1314G>A, XP_005265139.1:p.Trp773Ter, NP_001012524.4:p.Trp740Ter, XP_005265140.1:p.Trp737Ter, XP_011531918.1:p.Trp746Ter, XP_011531917.1:p.Trp747Ter, NP_001135419.1:p.Trp774Ter, XP_024309230.1:p.Trp746Ter, XP_024309232.1:p.Trp580Ter, XP_016861728.1:p.Trp481Ter, XP_047303973.1:p.Trp746Ter, NP_001340089.1:p.Trp410Ter, XP_047303974.1:p.Trp739Ter, NP_001340081.1:p.Trp740Ter, NP_001340085.1:p.Trp475Ter, NP_001340087.1:p.Trp432Ter, NP_001340076.1:p.Trp780Ter, NP_001340082.1:p.Trp740Ter, NP_001340077.1:p.Trp768Ter, NP_001340078.1:p.Trp767Ter, NP_001340080.1:p.Trp741Ter, NP_001340079.1:p.Trp751Ter, NP_001340083.1:p.Trp731Ter, XP_047303975.1:p.Trp730Ter, NP_001340084.1:p.Trp724Ter, XP_047303976.1:p.Trp438Ter

        4.

        rs1487408821 has merged into rs1231793819 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          A>-,AA [Show Flanks]
          Chromosome:
          3:56571208 (GRCh38)
          3:56605236 (GRCh37)
          Canonical SPDI:
          NC_000003.12:56571207:AAAAA:AAAA,NC_000003.12:56571207:AAAAA:AAAAAA
          Gene:
          CCDC66 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAA=0./0 (ALFA)
          -=0.000004/1 (GnomAD_exomes)
          -=0.000004/1 (TOPMED)
          -=0.000071/1 (TOMMO)
          HGVS:
          NC_000003.12:g.56571212del, NC_000003.12:g.56571212dup, NC_000003.11:g.56605240del, NC_000003.11:g.56605240dup, XM_005265082.5:c.825del, XM_005265082.5:c.825dup, XM_005265082.4:c.825del, XM_005265082.4:c.825dup, XM_005265082.3:c.825del, XM_005265082.3:c.825dup, XM_005265082.2:c.825del, XM_005265082.2:c.825dup, XM_005265082.1:c.825del, XM_005265082.1:c.825dup, NM_001012506.5:c.744del, NM_001012506.5:c.744dup, NM_001012506.4:c.744del, NM_001012506.4:c.744dup, XM_005265083.5:c.846del, XM_005265083.5:c.846dup, XM_005265083.4:c.846del, XM_005265083.4:c.846dup, XM_005265083.3:c.846del, XM_005265083.3:c.846dup, XM_005265083.2:c.846del, XM_005265083.2:c.846dup, XM_005265083.1:c.846del, XM_005265083.1:c.846dup, XM_011533616.4:c.744del, XM_011533616.4:c.744dup, XM_011533616.3:c.744del, XM_011533616.3:c.744dup, XM_011533616.2:c.744del, XM_011533616.2:c.744dup, XM_011533616.1:c.744del, XM_011533616.1:c.744dup, XM_011533615.3:c.747del, XM_011533615.3:c.747dup, XM_011533615.2:c.747del, XM_011533615.2:c.747dup, XM_011533615.1:c.747del, XM_011533615.1:c.747dup, NM_001141947.3:c.846del, NM_001141947.3:c.846dup, NM_001141947.2:c.846del, NM_001141947.2:c.846dup, NM_001141947.1:c.846del, NM_001141947.1:c.846dup, XM_024453462.2:c.744del, XM_024453462.2:c.744dup, XM_024453462.1:c.744del, XM_024453462.1:c.744dup, NR_024460.2:n.914del, NR_024460.2:n.914dup, NR_024460.1:n.914del, NR_024460.1:n.914dup, XM_024453464.2:c.246del, XM_024453464.2:c.246dup, XM_024453464.1:c.246del, XM_024453464.1:c.246dup, XM_017006239.2:c.-144del, XM_017006239.2:c.-144dup, XM_017006239.1:c.-144del, XM_017006239.1:c.-144dup, NR_148371.1:n.933del, NR_148371.1:n.933dup, NR_148374.1:n.914del, NR_148374.1:n.914dup, NR_148373.1:n.912del, NR_148373.1:n.912dup, XM_047448017.1:c.744del, XM_047448017.1:c.744dup, NM_001353160.1:c.-358del, NM_001353160.1:c.-358dup, NR_148372.1:n.985del, NR_148372.1:n.985dup, XM_047448018.1:c.723del, XM_047448018.1:c.723dup, NM_001353152.1:c.744del, NM_001353152.1:c.744dup, NR_148367.1:n.933del, NR_148367.1:n.933dup, NR_148366.1:n.933del, NR_148366.1:n.933dup, NM_001353156.1:c.-144del, NM_001353156.1:c.-144dup, NR_148376.1:n.886del, NR_148376.1:n.886dup, NM_001353158.1:c.-242del, NM_001353158.1:c.-242dup, NR_148375.1:n.888del, NR_148375.1:n.888dup, NR_148368.1:n.933del, NR_148368.1:n.933dup, NM_001353147.1:c.846del, NM_001353147.1:c.846dup, NR_148377.1:n.914del, NR_148377.1:n.914dup, NM_001353153.1:c.744del, NM_001353153.1:c.744dup, NR_148370.1:n.914del, NR_148370.1:n.914dup, NR_148369.1:n.912del, NR_148369.1:n.912dup, NM_001353148.1:c.846del, NM_001353148.1:c.846dup, NM_001139489.1:c.744del, NM_001139489.1:c.744dup, NM_001353149.1:c.825del, NM_001353149.1:c.825dup, NM_001353151.1:c.747del, NM_001353151.1:c.747dup, NM_001353150.1:c.846del, NM_001353150.1:c.846dup, NM_001353154.1:c.846del, NM_001353154.1:c.846dup, XM_047448019.1:c.825del, XM_047448019.1:c.825dup, NM_001353155.1:c.825del, NM_001353155.1:c.825dup, XM_047448020.1:c.-144del, XM_047448020.1:c.-144dup, XM_047448021.1:c.846del, XM_047448021.1:c.846dup, XP_005265139.1:p.Glu276fs, XP_005265139.1:p.Glu276fs, NP_001012524.4:p.Glu249fs, NP_001012524.4:p.Glu249fs, XP_005265140.1:p.Glu283fs, XP_005265140.1:p.Glu283fs, XP_011531918.1:p.Glu249fs, XP_011531918.1:p.Glu249fs, XP_011531917.1:p.Glu250fs, XP_011531917.1:p.Glu250fs, NP_001135419.1:p.Glu283fs, NP_001135419.1:p.Glu283fs, XP_024309230.1:p.Glu249fs, XP_024309230.1:p.Glu249fs, XP_024309232.1:p.Glu83fs, XP_024309232.1:p.Glu83fs, XP_047303973.1:p.Glu249fs, XP_047303973.1:p.Glu249fs, XP_047303974.1:p.Glu242fs, XP_047303974.1:p.Glu242fs, NP_001340081.1:p.Glu249fs, NP_001340081.1:p.Glu249fs, NP_001340076.1:p.Glu283fs, NP_001340076.1:p.Glu283fs, NP_001340082.1:p.Glu249fs, NP_001340082.1:p.Glu249fs, NP_001340077.1:p.Glu283fs, NP_001340077.1:p.Glu283fs, NP_001340078.1:p.Glu276fs, NP_001340078.1:p.Glu276fs, NP_001340080.1:p.Glu250fs, NP_001340080.1:p.Glu250fs, NP_001340079.1:p.Glu283fs, NP_001340079.1:p.Glu283fs, NP_001340083.1:p.Glu283fs, NP_001340083.1:p.Glu283fs, XP_047303975.1:p.Glu276fs, XP_047303975.1:p.Glu276fs, NP_001340084.1:p.Glu276fs, NP_001340084.1:p.Glu276fs, XP_047303977.1:p.Glu283fs, XP_047303977.1:p.Glu283fs

          5.

          rs1486479619 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:56564068 (GRCh38)
            3:56598096 (GRCh37)
            Canonical SPDI:
            NC_000003.12:56564067:A:G
            Gene:
            CCDC66 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000003.12:g.56564068A>G, NC_000003.11:g.56598096A>G, XM_005265082.5:c.487A>G, XM_005265082.4:c.487A>G, XM_005265082.3:c.487A>G, XM_005265082.2:c.487A>G, XM_005265082.1:c.487A>G, NM_001012506.5:c.385A>G, NM_001012506.4:c.385A>G, XM_005265083.5:c.487A>G, XM_005265083.4:c.487A>G, XM_005265083.3:c.487A>G, XM_005265083.2:c.487A>G, XM_005265083.1:c.487A>G, XM_011533616.4:c.385A>G, XM_011533616.3:c.385A>G, XM_011533616.2:c.385A>G, XM_011533616.1:c.385A>G, XM_011533615.3:c.388A>G, XM_011533615.2:c.388A>G, XM_011533615.1:c.388A>G, NM_001141947.3:c.487A>G, NM_001141947.2:c.487A>G, NM_001141947.1:c.487A>G, XM_024453462.2:c.385A>G, XM_024453462.1:c.385A>G, NR_024460.2:n.574A>G, NR_024460.1:n.574A>G, XM_024453464.2:c.-185A>G, XM_024453464.1:c.-185A>G, NR_148371.1:n.574A>G, NR_148374.1:n.574A>G, NR_148373.1:n.574A>G, XM_047448017.1:c.385A>G, NM_001353160.1:c.-769A>G, NR_148372.1:n.574A>G, XM_047448018.1:c.385A>G, NM_001353152.1:c.385A>G, NR_148367.1:n.574A>G, NR_148366.1:n.574A>G, NM_001353156.1:c.-503A>G, NR_148376.1:n.548A>G, NM_001353158.1:c.-601A>G, NR_148375.1:n.548A>G, NR_148368.1:n.574A>G, NM_001353147.1:c.487A>G, NR_148377.1:n.574A>G, NM_001353153.1:c.385A>G, NR_148370.1:n.555A>G, NR_148369.1:n.574A>G, NM_001353148.1:c.487A>G, NM_001139489.1:c.385A>G, NM_001353149.1:c.487A>G, NM_001353151.1:c.388A>G, NM_001353150.1:c.487A>G, NR_148378.1:n.574A>G, NM_001353154.1:c.487A>G, XM_047448019.1:c.487A>G, NM_001353155.1:c.487A>G, XM_047448021.1:c.487A>G, XP_005265139.1:p.Thr163Ala, NP_001012524.4:p.Thr129Ala, XP_005265140.1:p.Thr163Ala, XP_011531918.1:p.Thr129Ala, XP_011531917.1:p.Thr130Ala, NP_001135419.1:p.Thr163Ala, XP_024309230.1:p.Thr129Ala, XP_047303973.1:p.Thr129Ala, XP_047303974.1:p.Thr129Ala, NP_001340081.1:p.Thr129Ala, NP_001340076.1:p.Thr163Ala, NP_001340082.1:p.Thr129Ala, NP_001340077.1:p.Thr163Ala, NP_001340078.1:p.Thr163Ala, NP_001340080.1:p.Thr130Ala, NP_001340079.1:p.Thr163Ala, NP_001340083.1:p.Thr163Ala, XP_047303975.1:p.Thr163Ala, NP_001340084.1:p.Thr163Ala, XP_047303977.1:p.Thr163Ala

            6.

            rs1486230208 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              3:56593097 (GRCh38)
              3:56627125 (GRCh37)
              Canonical SPDI:
              NC_000003.12:56593096:C:G,NC_000003.12:56593096:C:T
              Gene:
              CCDC66 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,stop_gained
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000003.12:g.56593097C>G, NC_000003.12:g.56593097C>T, NC_000003.11:g.56627125C>G, NC_000003.11:g.56627125C>T, XM_005265082.5:c.1043C>G, XM_005265082.5:c.1043C>T, XM_005265082.4:c.1043C>G, XM_005265082.4:c.1043C>T, XM_005265082.3:c.1043C>G, XM_005265082.3:c.1043C>T, XM_005265082.2:c.1043C>G, XM_005265082.2:c.1043C>T, XM_005265082.1:c.1043C>G, XM_005265082.1:c.1043C>T, NM_001012506.5:c.962C>G, NM_001012506.5:c.962C>T, NM_001012506.4:c.962C>G, NM_001012506.4:c.962C>T, XM_005265083.5:c.1064C>G, XM_005265083.5:c.1064C>T, XM_005265083.4:c.1064C>G, XM_005265083.4:c.1064C>T, XM_005265083.3:c.1064C>G, XM_005265083.3:c.1064C>T, XM_005265083.2:c.1064C>G, XM_005265083.2:c.1064C>T, XM_005265083.1:c.1064C>G, XM_005265083.1:c.1064C>T, XM_011533616.4:c.962C>G, XM_011533616.4:c.962C>T, XM_011533616.3:c.962C>G, XM_011533616.3:c.962C>T, XM_011533616.2:c.962C>G, XM_011533616.2:c.962C>T, XM_011533616.1:c.962C>G, XM_011533616.1:c.962C>T, XM_011533615.3:c.965C>G, XM_011533615.3:c.965C>T, XM_011533615.2:c.965C>G, XM_011533615.2:c.965C>T, XM_011533615.1:c.965C>G, XM_011533615.1:c.965C>T, NM_001141947.3:c.1064C>G, NM_001141947.3:c.1064C>T, NM_001141947.2:c.1064C>G, NM_001141947.2:c.1064C>T, NM_001141947.1:c.1064C>G, NM_001141947.1:c.1064C>T, XM_024453462.2:c.962C>G, XM_024453462.2:c.962C>T, XM_024453462.1:c.962C>G, XM_024453462.1:c.962C>T, NR_024460.2:n.1132C>G, NR_024460.2:n.1132C>T, NR_024460.1:n.1132C>G, NR_024460.1:n.1132C>T, XM_024453464.2:c.464C>G, XM_024453464.2:c.464C>T, XM_024453464.1:c.464C>G, XM_024453464.1:c.464C>T, XM_017006239.2:c.167C>G, XM_017006239.2:c.167C>T, XM_017006239.1:c.167C>G, XM_017006239.1:c.167C>T, NR_148371.1:n.1341C>G, NR_148371.1:n.1341C>T, NR_148374.1:n.1224C>G, NR_148374.1:n.1224C>T, NR_148373.1:n.1222C>G, NR_148373.1:n.1222C>T, XM_047448017.1:c.962C>G, XM_047448017.1:c.962C>T, NM_001353160.1:c.-29C>G, NM_001353160.1:c.-29C>T, NR_148372.1:n.1203C>G, NR_148372.1:n.1203C>T, XM_047448018.1:c.941C>G, XM_047448018.1:c.941C>T, NM_001353152.1:c.962C>G, NM_001353152.1:c.962C>T, NR_148367.1:n.1151C>G, NR_148367.1:n.1151C>T, NR_148366.1:n.1151C>G, NR_148366.1:n.1151C>T, NM_001353156.1:c.167C>G, NM_001353156.1:c.167C>T, NR_148376.1:n.1104C>G, NR_148376.1:n.1104C>T, NM_001353158.1:c.167C>G, NM_001353158.1:c.167C>T, NR_148375.1:n.1198C>G, NR_148375.1:n.1198C>T, NR_148368.1:n.1151C>G, NR_148368.1:n.1151C>T, NM_001353147.1:c.1064C>G, NM_001353147.1:c.1064C>T, NR_148377.1:n.1132C>G, NR_148377.1:n.1132C>T, NM_001353153.1:c.962C>G, NM_001353153.1:c.962C>T, NR_148370.1:n.1132C>G, NR_148370.1:n.1132C>T, NR_148369.1:n.1130C>G, NR_148369.1:n.1130C>T, NM_001353148.1:c.1064C>G, NM_001353148.1:c.1064C>T, NM_001139489.1:c.962C>G, NM_001139489.1:c.962C>T, NM_001353149.1:c.1043C>G, NM_001353149.1:c.1043C>T, NM_001353151.1:c.965C>G, NM_001353151.1:c.965C>T, NM_001353150.1:c.1064C>G, NM_001353150.1:c.1064C>T, NR_148378.1:n.1029C>G, NR_148378.1:n.1029C>T, NM_001353154.1:c.1064C>G, NM_001353154.1:c.1064C>T, XM_047448019.1:c.1043C>G, XM_047448019.1:c.1043C>T, NM_001353155.1:c.1043C>G, NM_001353155.1:c.1043C>T, XM_047448020.1:c.167C>G, XM_047448020.1:c.167C>T, XM_047448021.1:c.1064C>G, XM_047448021.1:c.1064C>T, XP_005265139.1:p.Ser348Ter, XP_005265139.1:p.Ser348Leu, NP_001012524.4:p.Ser321Ter, NP_001012524.4:p.Ser321Leu, XP_005265140.1:p.Ser355Ter, XP_005265140.1:p.Ser355Leu, XP_011531918.1:p.Ser321Ter, XP_011531918.1:p.Ser321Leu, XP_011531917.1:p.Ser322Ter, XP_011531917.1:p.Ser322Leu, NP_001135419.1:p.Ser355Ter, NP_001135419.1:p.Ser355Leu, XP_024309230.1:p.Ser321Ter, XP_024309230.1:p.Ser321Leu, XP_024309232.1:p.Ser155Ter, XP_024309232.1:p.Ser155Leu, XP_016861728.1:p.Ser56Ter, XP_016861728.1:p.Ser56Leu, XP_047303973.1:p.Ser321Ter, XP_047303973.1:p.Ser321Leu, XP_047303974.1:p.Ser314Ter, XP_047303974.1:p.Ser314Leu, NP_001340081.1:p.Ser321Ter, NP_001340081.1:p.Ser321Leu, NP_001340085.1:p.Ser56Ter, NP_001340085.1:p.Ser56Leu, NP_001340087.1:p.Ser56Ter, NP_001340087.1:p.Ser56Leu, NP_001340076.1:p.Ser355Ter, NP_001340076.1:p.Ser355Leu, NP_001340082.1:p.Ser321Ter, NP_001340082.1:p.Ser321Leu, NP_001340077.1:p.Ser355Ter, NP_001340077.1:p.Ser355Leu, NP_001340078.1:p.Ser348Ter, NP_001340078.1:p.Ser348Leu, NP_001340080.1:p.Ser322Ter, NP_001340080.1:p.Ser322Leu, NP_001340079.1:p.Ser355Ter, NP_001340079.1:p.Ser355Leu, NP_001340083.1:p.Ser355Ter, NP_001340083.1:p.Ser355Leu, XP_047303975.1:p.Ser348Ter, XP_047303975.1:p.Ser348Leu, NP_001340084.1:p.Ser348Ter, NP_001340084.1:p.Ser348Leu, XP_047303976.1:p.Ser56Ter, XP_047303976.1:p.Ser56Leu, XP_047303977.1:p.Ser355Ter, XP_047303977.1:p.Ser355Leu

              7.

              rs1485663343 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:56566654 (GRCh38)
                3:56600682 (GRCh37)
                Canonical SPDI:
                NC_000003.12:56566653:G:A
                Gene:
                CCDC66 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000003.12:g.56566654G>A, NC_000003.11:g.56600682G>A, XM_005265082.5:c.605G>A, XM_005265082.4:c.605G>A, XM_005265082.3:c.605G>A, XM_005265082.2:c.605G>A, XM_005265082.1:c.605G>A, NM_001012506.5:c.503G>A, NM_001012506.4:c.503G>A, XM_005265083.5:c.605G>A, XM_005265083.4:c.605G>A, XM_005265083.3:c.605G>A, XM_005265083.2:c.605G>A, XM_005265083.1:c.605G>A, XM_011533616.4:c.503G>A, XM_011533616.3:c.503G>A, XM_011533616.2:c.503G>A, XM_011533616.1:c.503G>A, XM_011533615.3:c.506G>A, XM_011533615.2:c.506G>A, XM_011533615.1:c.506G>A, NM_001141947.3:c.605G>A, NM_001141947.2:c.605G>A, NM_001141947.1:c.605G>A, XM_024453462.2:c.503G>A, XM_024453462.1:c.503G>A, NR_024460.2:n.692G>A, NR_024460.1:n.692G>A, XM_024453464.2:c.5G>A, XM_024453464.1:c.5G>A, NR_148371.1:n.692G>A, NR_148374.1:n.692G>A, NR_148373.1:n.692G>A, XM_047448017.1:c.503G>A, NM_001353160.1:c.-580G>A, NR_148372.1:n.763G>A, XM_047448018.1:c.503G>A, NM_001353152.1:c.503G>A, NR_148367.1:n.692G>A, NR_148366.1:n.692G>A, NM_001353156.1:c.-385G>A, NR_148376.1:n.666G>A, NM_001353158.1:c.-483G>A, NR_148375.1:n.666G>A, NR_148368.1:n.692G>A, NM_001353147.1:c.605G>A, NR_148377.1:n.692G>A, NM_001353153.1:c.503G>A, NR_148370.1:n.673G>A, NR_148369.1:n.692G>A, NM_001353148.1:c.605G>A, NM_001139489.1:c.503G>A, NM_001353149.1:c.605G>A, NM_001353151.1:c.506G>A, NM_001353150.1:c.605G>A, NR_148378.1:n.692G>A, NM_001353154.1:c.605G>A, XM_047448019.1:c.605G>A, NM_001353155.1:c.605G>A, XM_047448021.1:c.605G>A, XP_005265139.1:p.Gly202Glu, NP_001012524.4:p.Gly168Glu, XP_005265140.1:p.Gly202Glu, XP_011531918.1:p.Gly168Glu, XP_011531917.1:p.Gly169Glu, NP_001135419.1:p.Gly202Glu, XP_024309230.1:p.Gly168Glu, XP_024309232.1:p.Gly2Glu, XP_047303973.1:p.Gly168Glu, XP_047303974.1:p.Gly168Glu, NP_001340081.1:p.Gly168Glu, NP_001340076.1:p.Gly202Glu, NP_001340082.1:p.Gly168Glu, NP_001340077.1:p.Gly202Glu, NP_001340078.1:p.Gly202Glu, NP_001340080.1:p.Gly169Glu, NP_001340079.1:p.Gly202Glu, NP_001340083.1:p.Gly202Glu, XP_047303975.1:p.Gly202Glu, NP_001340084.1:p.Gly202Glu, XP_047303977.1:p.Gly202Glu

                8.

                rs1485597608 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:56619394 (GRCh38)
                  3:56653422 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:56619393:A:G
                  Gene:
                  CCDC66 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000028/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.56619394A>G, NC_000003.11:g.56653422A>G, XM_005265082.5:c.2499A>G, XM_005265082.4:c.2499A>G, XM_005265082.3:c.2499A>G, XM_005265082.2:c.2499A>G, XM_005265082.1:c.2499A>G, NM_001012506.5:c.2400A>G, NM_001012506.4:c.2400A>G, XM_005265083.5:c.2391A>G, XM_005265083.4:c.2391A>G, XM_005265083.3:c.2391A>G, XM_005265083.2:c.2391A>G, XM_005265083.1:c.2391A>G, XM_011533616.4:c.2418A>G, XM_011533616.3:c.2418A>G, XM_011533616.2:c.2418A>G, XM_011533616.1:c.2418A>G, XM_011533615.3:c.2421A>G, XM_011533615.2:c.2421A>G, XM_011533615.1:c.2421A>G, NM_001141947.3:c.2502A>G, NM_001141947.2:c.2502A>G, NM_001141947.1:c.2502A>G, XM_024453462.2:c.2418A>G, XM_024453462.1:c.2418A>G, NR_024460.2:n.2570A>G, NR_024460.1:n.2570A>G, XM_024453464.2:c.1920A>G, XM_024453464.1:c.1920A>G, XM_017006239.2:c.1623A>G, XM_017006239.1:c.1623A>G, NR_148371.1:n.2783A>G, NR_148374.1:n.2773A>G, NR_148373.1:n.2771A>G, XM_047448017.1:c.2418A>G, NM_001353160.1:c.1410A>G, NR_148372.1:n.2756A>G, XM_047448018.1:c.2397A>G, NM_001353152.1:c.2400A>G, NR_148367.1:n.2704A>G, NR_148366.1:n.2700A>G, NM_001353156.1:c.1605A>G, NR_148376.1:n.2653A>G, NM_001353158.1:c.1476A>G, NR_148375.1:n.2640A>G, NR_148368.1:n.2621A>G, NM_001353147.1:c.2520A>G, NR_148377.1:n.2602A>G, NM_001353153.1:c.2400A>G, NR_148370.1:n.2574A>G, NR_148369.1:n.2572A>G, NM_001353148.1:c.2484A>G, NM_001139489.1:c.2400A>G, NM_001353149.1:c.2481A>G, NM_001353151.1:c.2403A>G, NM_001353150.1:c.2433A>G, NR_148378.1:n.2471A>G, NM_001353154.1:c.2373A>G, XM_047448019.1:c.2370A>G, NM_001353155.1:c.2352A>G, XM_047448020.1:c.1494A>G

                  9.

                  rs1485554948 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    3:56593617 (GRCh38)
                    3:56627645 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:56593616:C:A,NC_000003.12:56593616:C:G
                    Gene:
                    CCDC66 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.56593617C>A, NC_000003.12:g.56593617C>G, NC_000003.11:g.56627645C>A, NC_000003.11:g.56627645C>G, XM_005265082.5:c.1174C>A, XM_005265082.5:c.1174C>G, XM_005265082.4:c.1174C>A, XM_005265082.4:c.1174C>G, XM_005265082.3:c.1174C>A, XM_005265082.3:c.1174C>G, XM_005265082.2:c.1174C>A, XM_005265082.2:c.1174C>G, XM_005265082.1:c.1174C>A, XM_005265082.1:c.1174C>G, NM_001012506.5:c.1093C>A, NM_001012506.5:c.1093C>G, NM_001012506.4:c.1093C>A, NM_001012506.4:c.1093C>G, XM_011533616.4:c.1093C>A, XM_011533616.4:c.1093C>G, XM_011533616.3:c.1093C>A, XM_011533616.3:c.1093C>G, XM_011533616.2:c.1093C>A, XM_011533616.2:c.1093C>G, XM_011533616.1:c.1093C>A, XM_011533616.1:c.1093C>G, XM_011533615.3:c.1096C>A, XM_011533615.3:c.1096C>G, XM_011533615.2:c.1096C>A, XM_011533615.2:c.1096C>G, XM_011533615.1:c.1096C>A, XM_011533615.1:c.1096C>G, NM_001141947.3:c.1195C>A, NM_001141947.3:c.1195C>G, NM_001141947.2:c.1195C>A, NM_001141947.2:c.1195C>G, NM_001141947.1:c.1195C>A, NM_001141947.1:c.1195C>G, XM_024453462.2:c.1093C>A, XM_024453462.2:c.1093C>G, XM_024453462.1:c.1093C>A, XM_024453462.1:c.1093C>G, NR_024460.2:n.1263C>A, NR_024460.2:n.1263C>G, NR_024460.1:n.1263C>A, NR_024460.1:n.1263C>G, XM_024453464.2:c.595C>A, XM_024453464.2:c.595C>G, XM_024453464.1:c.595C>A, XM_024453464.1:c.595C>G, XM_017006239.2:c.298C>A, XM_017006239.2:c.298C>G, XM_017006239.1:c.298C>A, XM_017006239.1:c.298C>G, NR_148371.1:n.1472C>A, NR_148371.1:n.1472C>G, NR_148374.1:n.1355C>A, NR_148374.1:n.1355C>G, NR_148373.1:n.1353C>A, NR_148373.1:n.1353C>G, XM_047448017.1:c.1093C>A, XM_047448017.1:c.1093C>G, NM_001353160.1:c.103C>A, NM_001353160.1:c.103C>G, NR_148372.1:n.1334C>A, NR_148372.1:n.1334C>G, XM_047448018.1:c.1072C>A, XM_047448018.1:c.1072C>G, NM_001353152.1:c.1093C>A, NM_001353152.1:c.1093C>G, NR_148367.1:n.1282C>A, NR_148367.1:n.1282C>G, NR_148366.1:n.1282C>A, NR_148366.1:n.1282C>G, NM_001353156.1:c.298C>A, NM_001353156.1:c.298C>G, NR_148376.1:n.1235C>A, NR_148376.1:n.1235C>G, NR_148375.1:n.1329C>A, NR_148375.1:n.1329C>G, NR_148368.1:n.1282C>A, NR_148368.1:n.1282C>G, NM_001353147.1:c.1195C>A, NM_001353147.1:c.1195C>G, NR_148377.1:n.1263C>A, NR_148377.1:n.1263C>G, NM_001353153.1:c.1093C>A, NM_001353153.1:c.1093C>G, NR_148370.1:n.1263C>A, NR_148370.1:n.1263C>G, NR_148369.1:n.1261C>A, NR_148369.1:n.1261C>G, NM_001353148.1:c.1195C>A, NM_001353148.1:c.1195C>G, NM_001139489.1:c.1093C>A, NM_001139489.1:c.1093C>G, NM_001353149.1:c.1174C>A, NM_001353149.1:c.1174C>G, NM_001353151.1:c.1096C>A, NM_001353151.1:c.1096C>G, NM_001353150.1:c.1126C>A, NM_001353150.1:c.1126C>G, NR_148378.1:n.1160C>A, NR_148378.1:n.1160C>G, XM_047448021.1:c.1195C>A, XM_047448021.1:c.1195C>G, XP_005265139.1:p.Gln392Lys, XP_005265139.1:p.Gln392Glu, NP_001012524.4:p.Gln365Lys, NP_001012524.4:p.Gln365Glu, XP_011531918.1:p.Gln365Lys, XP_011531918.1:p.Gln365Glu, XP_011531917.1:p.Gln366Lys, XP_011531917.1:p.Gln366Glu, NP_001135419.1:p.Gln399Lys, NP_001135419.1:p.Gln399Glu, XP_024309230.1:p.Gln365Lys, XP_024309230.1:p.Gln365Glu, XP_024309232.1:p.Gln199Lys, XP_024309232.1:p.Gln199Glu, XP_016861728.1:p.Gln100Lys, XP_016861728.1:p.Gln100Glu, XP_047303973.1:p.Gln365Lys, XP_047303973.1:p.Gln365Glu, NP_001340089.1:p.Gln35Lys, NP_001340089.1:p.Gln35Glu, XP_047303974.1:p.Gln358Lys, XP_047303974.1:p.Gln358Glu, NP_001340081.1:p.Gln365Lys, NP_001340081.1:p.Gln365Glu, NP_001340085.1:p.Gln100Lys, NP_001340085.1:p.Gln100Glu, NP_001340076.1:p.Gln399Lys, NP_001340076.1:p.Gln399Glu, NP_001340082.1:p.Gln365Lys, NP_001340082.1:p.Gln365Glu, NP_001340077.1:p.Gln399Lys, NP_001340077.1:p.Gln399Glu, NP_001340078.1:p.Gln392Lys, NP_001340078.1:p.Gln392Glu, NP_001340080.1:p.Gln366Lys, NP_001340080.1:p.Gln366Glu, NP_001340079.1:p.Gln376Lys, NP_001340079.1:p.Gln376Glu, XP_047303977.1:p.Gln399Lys, XP_047303977.1:p.Gln399Glu

                    10.

                    rs1483173631 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:56616038 (GRCh38)
                      3:56650066 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:56616037:A:G
                      Gene:
                      CCDC66 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.56616038A>G, NC_000003.11:g.56650066A>G, XM_005265082.5:c.1825A>G, XM_005265082.4:c.1825A>G, XM_005265082.3:c.1825A>G, XM_005265082.2:c.1825A>G, XM_005265082.1:c.1825A>G, NM_001012506.5:c.1726A>G, NM_001012506.4:c.1726A>G, XM_005265083.5:c.1717A>G, XM_005265083.4:c.1717A>G, XM_005265083.3:c.1717A>G, XM_005265083.2:c.1717A>G, XM_005265083.1:c.1717A>G, XM_011533616.4:c.1744A>G, XM_011533616.3:c.1744A>G, XM_011533616.2:c.1744A>G, XM_011533616.1:c.1744A>G, XM_011533615.3:c.1747A>G, XM_011533615.2:c.1747A>G, XM_011533615.1:c.1747A>G, NM_001141947.3:c.1828A>G, NM_001141947.2:c.1828A>G, NM_001141947.1:c.1828A>G, XM_024453462.2:c.1744A>G, XM_024453462.1:c.1744A>G, NR_024460.2:n.1896A>G, NR_024460.1:n.1896A>G, XM_024453464.2:c.1246A>G, XM_024453464.1:c.1246A>G, XM_017006239.2:c.949A>G, XM_017006239.1:c.949A>G, NR_148371.1:n.2109A>G, NR_148374.1:n.2099A>G, NR_148373.1:n.2097A>G, XM_047448017.1:c.1744A>G, NM_001353160.1:c.736A>G, NR_148372.1:n.2082A>G, XM_047448018.1:c.1723A>G, NM_001353152.1:c.1726A>G, NR_148367.1:n.2030A>G, NR_148366.1:n.2026A>G, NM_001353156.1:c.931A>G, NR_148376.1:n.1979A>G, NM_001353158.1:c.802A>G, NR_148375.1:n.1966A>G, NR_148368.1:n.1947A>G, NM_001353147.1:c.1846A>G, NR_148377.1:n.1928A>G, NM_001353153.1:c.1726A>G, NR_148370.1:n.1900A>G, NR_148369.1:n.1898A>G, NM_001353148.1:c.1810A>G, NM_001139489.1:c.1726A>G, NM_001353149.1:c.1807A>G, NM_001353151.1:c.1729A>G, NM_001353150.1:c.1759A>G, NR_148378.1:n.1797A>G, NM_001353154.1:c.1699A>G, XM_047448019.1:c.1696A>G, NM_001353155.1:c.1678A>G, XM_047448020.1:c.820A>G, XP_005265139.1:p.Thr609Ala, NP_001012524.4:p.Thr576Ala, XP_005265140.1:p.Thr573Ala, XP_011531918.1:p.Thr582Ala, XP_011531917.1:p.Thr583Ala, NP_001135419.1:p.Thr610Ala, XP_024309230.1:p.Thr582Ala, XP_024309232.1:p.Thr416Ala, XP_016861728.1:p.Thr317Ala, XP_047303973.1:p.Thr582Ala, NP_001340089.1:p.Thr246Ala, XP_047303974.1:p.Thr575Ala, NP_001340081.1:p.Thr576Ala, NP_001340085.1:p.Thr311Ala, NP_001340087.1:p.Thr268Ala, NP_001340076.1:p.Thr616Ala, NP_001340082.1:p.Thr576Ala, NP_001340077.1:p.Thr604Ala, NP_001340078.1:p.Thr603Ala, NP_001340080.1:p.Thr577Ala, NP_001340079.1:p.Thr587Ala, NP_001340083.1:p.Thr567Ala, XP_047303975.1:p.Thr566Ala, NP_001340084.1:p.Thr560Ala, XP_047303976.1:p.Thr274Ala

                      11.

                      rs1482150242 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:56566734 (GRCh38)
                        3:56600762 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:56566733:A:G
                        Gene:
                        CCDC66 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.56566734A>G, NC_000003.11:g.56600762A>G, XM_005265082.5:c.685A>G, XM_005265082.4:c.685A>G, XM_005265082.3:c.685A>G, XM_005265082.2:c.685A>G, XM_005265082.1:c.685A>G, NM_001012506.5:c.583A>G, NM_001012506.4:c.583A>G, XM_005265083.5:c.685A>G, XM_005265083.4:c.685A>G, XM_005265083.3:c.685A>G, XM_005265083.2:c.685A>G, XM_005265083.1:c.685A>G, XM_011533616.4:c.583A>G, XM_011533616.3:c.583A>G, XM_011533616.2:c.583A>G, XM_011533616.1:c.583A>G, XM_011533615.3:c.586A>G, XM_011533615.2:c.586A>G, XM_011533615.1:c.586A>G, NM_001141947.3:c.685A>G, NM_001141947.2:c.685A>G, NM_001141947.1:c.685A>G, XM_024453462.2:c.583A>G, XM_024453462.1:c.583A>G, NR_024460.2:n.772A>G, NR_024460.1:n.772A>G, XM_024453464.2:c.85A>G, XM_024453464.1:c.85A>G, NR_148371.1:n.772A>G, NR_148374.1:n.772A>G, NR_148373.1:n.772A>G, XM_047448017.1:c.583A>G, NM_001353160.1:c.-500A>G, NR_148372.1:n.843A>G, XM_047448018.1:c.583A>G, NM_001353152.1:c.583A>G, NR_148367.1:n.772A>G, NR_148366.1:n.772A>G, NM_001353156.1:c.-305A>G, NR_148376.1:n.746A>G, NM_001353158.1:c.-403A>G, NR_148375.1:n.746A>G, NR_148368.1:n.772A>G, NM_001353147.1:c.685A>G, NR_148377.1:n.772A>G, NM_001353153.1:c.583A>G, NR_148370.1:n.753A>G, NR_148369.1:n.772A>G, NM_001353148.1:c.685A>G, NM_001139489.1:c.583A>G, NM_001353149.1:c.685A>G, NM_001353151.1:c.586A>G, NM_001353150.1:c.685A>G, NR_148378.1:n.772A>G, NM_001353154.1:c.685A>G, XM_047448019.1:c.685A>G, NM_001353155.1:c.685A>G, XM_047448021.1:c.685A>G, XP_005265139.1:p.Lys229Glu, NP_001012524.4:p.Lys195Glu, XP_005265140.1:p.Lys229Glu, XP_011531918.1:p.Lys195Glu, XP_011531917.1:p.Lys196Glu, NP_001135419.1:p.Lys229Glu, XP_024309230.1:p.Lys195Glu, XP_024309232.1:p.Lys29Glu, XP_047303973.1:p.Lys195Glu, XP_047303974.1:p.Lys195Glu, NP_001340081.1:p.Lys195Glu, NP_001340076.1:p.Lys229Glu, NP_001340082.1:p.Lys195Glu, NP_001340077.1:p.Lys229Glu, NP_001340078.1:p.Lys229Glu, NP_001340080.1:p.Lys196Glu, NP_001340079.1:p.Lys229Glu, NP_001340083.1:p.Lys229Glu, XP_047303975.1:p.Lys229Glu, NP_001340084.1:p.Lys229Glu, XP_047303977.1:p.Lys229Glu

                        12.

                        rs1481641757 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:56615256 (GRCh38)
                          3:56649284 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:56615255:G:A
                          Gene:
                          CCDC66 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000094/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.56615256G>A, NC_000003.11:g.56649284G>A, XM_005265082.5:c.1674G>A, XM_005265082.4:c.1674G>A, XM_005265082.3:c.1674G>A, XM_005265082.2:c.1674G>A, XM_005265082.1:c.1674G>A, NM_001012506.5:c.1593G>A, NM_001012506.4:c.1593G>A, XM_005265083.5:c.1566G>A, XM_005265083.4:c.1566G>A, XM_005265083.3:c.1566G>A, XM_005265083.2:c.1566G>A, XM_005265083.1:c.1566G>A, XM_011533616.4:c.1593G>A, XM_011533616.3:c.1593G>A, XM_011533616.2:c.1593G>A, XM_011533616.1:c.1593G>A, XM_011533615.3:c.1596G>A, XM_011533615.2:c.1596G>A, XM_011533615.1:c.1596G>A, NM_001141947.3:c.1695G>A, NM_001141947.2:c.1695G>A, NM_001141947.1:c.1695G>A, XM_024453462.2:c.1593G>A, XM_024453462.1:c.1593G>A, NR_024460.2:n.1763G>A, NR_024460.1:n.1763G>A, XM_024453464.2:c.1095G>A, XM_024453464.1:c.1095G>A, XM_017006239.2:c.798G>A, XM_017006239.1:c.798G>A, NR_148371.1:n.1976G>A, NR_148374.1:n.1966G>A, NR_148373.1:n.1964G>A, XM_047448017.1:c.1593G>A, NM_001353160.1:c.603G>A, NR_148372.1:n.1949G>A, XM_047448018.1:c.1572G>A, NM_001353152.1:c.1593G>A, NR_148367.1:n.1897G>A, NR_148366.1:n.1893G>A, NM_001353156.1:c.798G>A, NR_148376.1:n.1846G>A, NM_001353158.1:c.669G>A, NR_148375.1:n.1833G>A, NR_148368.1:n.1782G>A, NM_001353147.1:c.1695G>A, NR_148377.1:n.1763G>A, NM_001353153.1:c.1593G>A, NR_148370.1:n.1767G>A, NR_148369.1:n.1765G>A, NM_001353148.1:c.1677G>A, NM_001139489.1:c.1593G>A, NM_001353149.1:c.1674G>A, NM_001353151.1:c.1596G>A, NM_001353150.1:c.1626G>A, NR_148378.1:n.1664G>A, NM_001353154.1:c.1566G>A, XM_047448019.1:c.1545G>A, NM_001353155.1:c.1545G>A, XM_047448020.1:c.669G>A

                          13.

                          rs1481033395 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            3:56558847 (GRCh38)
                            3:56592875 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:56558846:G:A,NC_000003.12:56558846:G:T
                            Gene:
                            CCDC66 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (GnomAD)
                            T=0.000013/2 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.56558847G>A, NC_000003.12:g.56558847G>T, NC_000003.11:g.56592875G>A, NC_000003.11:g.56592875G>T, XM_005265082.5:c.13G>A, XM_005265082.5:c.13G>T, XM_005265082.4:c.13G>A, XM_005265082.4:c.13G>T, XM_005265082.3:c.13G>A, XM_005265082.3:c.13G>T, XM_005265082.2:c.13G>A, XM_005265082.2:c.13G>T, XM_005265082.1:c.13G>A, XM_005265082.1:c.13G>T, NM_001012506.5:c.-90G>A, NM_001012506.5:c.-90G>T, NM_001012506.4:c.-90G>A, NM_001012506.4:c.-90G>T, XM_005265083.5:c.13G>A, XM_005265083.5:c.13G>T, XM_005265083.4:c.13G>A, XM_005265083.4:c.13G>T, XM_005265083.3:c.13G>A, XM_005265083.3:c.13G>T, XM_005265083.2:c.13G>A, XM_005265083.2:c.13G>T, XM_005265083.1:c.13G>A, XM_005265083.1:c.13G>T, XM_011533616.4:c.-90G>A, XM_011533616.4:c.-90G>T, XM_011533616.3:c.-90G>A, XM_011533616.3:c.-90G>T, XM_011533616.2:c.-90G>A, XM_011533616.2:c.-90G>T, XM_011533616.1:c.-90G>A, XM_011533616.1:c.-90G>T, XM_011533615.3:c.-61G>A, XM_011533615.3:c.-61G>T, XM_011533615.2:c.-61G>A, XM_011533615.2:c.-61G>T, XM_011533615.1:c.-61G>A, XM_011533615.1:c.-61G>T, NM_001141947.3:c.13G>A, NM_001141947.3:c.13G>T, NM_001141947.2:c.13G>A, NM_001141947.2:c.13G>T, NM_001141947.1:c.13G>A, NM_001141947.1:c.13G>T, XM_024453462.2:c.-90G>A, XM_024453462.2:c.-90G>T, XM_024453462.1:c.-90G>A, XM_024453462.1:c.-90G>T, NR_024460.2:n.100G>A, NR_024460.2:n.100G>T, NR_024460.1:n.100G>A, NR_024460.1:n.100G>T, NR_148371.1:n.100G>A, NR_148371.1:n.100G>T, NR_148374.1:n.100G>A, NR_148374.1:n.100G>T, NR_148373.1:n.100G>A, NR_148373.1:n.100G>T, XM_047448017.1:c.-241G>A, XM_047448017.1:c.-241G>T, NM_001353160.1:c.-1243G>A, NM_001353160.1:c.-1243G>T, NR_148372.1:n.100G>A, NR_148372.1:n.100G>T, XM_047448018.1:c.-241G>A, XM_047448018.1:c.-241G>T, NM_001353152.1:c.-241G>A, NM_001353152.1:c.-241G>T, NR_148367.1:n.100G>A, NR_148367.1:n.100G>T, NR_148366.1:n.100G>A, NR_148366.1:n.100G>T, NM_001353156.1:c.-977G>A, NM_001353156.1:c.-977G>T, NR_148376.1:n.100G>A, NR_148376.1:n.100G>T, NM_001353158.1:c.-1075G>A, NM_001353158.1:c.-1075G>T, NR_148375.1:n.100G>A, NR_148375.1:n.100G>T, NR_148368.1:n.100G>A, NR_148368.1:n.100G>T, NM_001353147.1:c.13G>A, NM_001353147.1:c.13G>T, NR_148377.1:n.100G>A, NR_148377.1:n.100G>T, NM_001353153.1:c.-90G>A, NM_001353153.1:c.-90G>T, NR_148370.1:n.81G>A, NR_148370.1:n.81G>T, NR_148369.1:n.100G>A, NR_148369.1:n.100G>T, NM_001353148.1:c.13G>A, NM_001353148.1:c.13G>T, NM_001139489.1:c.-90G>A, NM_001139489.1:c.-90G>T, NM_001353149.1:c.13G>A, NM_001353149.1:c.13G>T, NM_001353151.1:c.-61G>A, NM_001353151.1:c.-61G>T, NM_001353150.1:c.13G>A, NM_001353150.1:c.13G>T, NR_148378.1:n.100G>A, NR_148378.1:n.100G>T, NM_001353154.1:c.13G>A, NM_001353154.1:c.13G>T, XM_047448019.1:c.13G>A, XM_047448019.1:c.13G>T, NM_001353155.1:c.13G>A, NM_001353155.1:c.13G>T, XM_047448021.1:c.13G>A, XM_047448021.1:c.13G>T, XP_005265139.1:p.Asp5Asn, XP_005265139.1:p.Asp5Tyr, XP_005265140.1:p.Asp5Asn, XP_005265140.1:p.Asp5Tyr, NP_001135419.1:p.Asp5Asn, NP_001135419.1:p.Asp5Tyr, NP_001340076.1:p.Asp5Asn, NP_001340076.1:p.Asp5Tyr, NP_001340077.1:p.Asp5Asn, NP_001340077.1:p.Asp5Tyr, NP_001340078.1:p.Asp5Asn, NP_001340078.1:p.Asp5Tyr, NP_001340079.1:p.Asp5Asn, NP_001340079.1:p.Asp5Tyr, NP_001340083.1:p.Asp5Asn, NP_001340083.1:p.Asp5Tyr, XP_047303975.1:p.Asp5Asn, XP_047303975.1:p.Asp5Tyr, NP_001340084.1:p.Asp5Asn, NP_001340084.1:p.Asp5Tyr, XP_047303977.1:p.Asp5Asn, XP_047303977.1:p.Asp5Tyr

                            14.

                            rs1480466178 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:56615974 (GRCh38)
                              3:56650002 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:56615973:T:C
                              Gene:
                              CCDC66 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.56615974T>C, NC_000003.11:g.56650002T>C, XM_005265082.5:c.1761T>C, XM_005265082.4:c.1761T>C, XM_005265082.3:c.1761T>C, XM_005265082.2:c.1761T>C, XM_005265082.1:c.1761T>C, NM_001012506.5:c.1662T>C, NM_001012506.4:c.1662T>C, XM_005265083.5:c.1653T>C, XM_005265083.4:c.1653T>C, XM_005265083.3:c.1653T>C, XM_005265083.2:c.1653T>C, XM_005265083.1:c.1653T>C, XM_011533616.4:c.1680T>C, XM_011533616.3:c.1680T>C, XM_011533616.2:c.1680T>C, XM_011533616.1:c.1680T>C, XM_011533615.3:c.1683T>C, XM_011533615.2:c.1683T>C, XM_011533615.1:c.1683T>C, NM_001141947.3:c.1764T>C, NM_001141947.2:c.1764T>C, NM_001141947.1:c.1764T>C, XM_024453462.2:c.1680T>C, XM_024453462.1:c.1680T>C, NR_024460.2:n.1832T>C, NR_024460.1:n.1832T>C, XM_024453464.2:c.1182T>C, XM_024453464.1:c.1182T>C, XM_017006239.2:c.885T>C, XM_017006239.1:c.885T>C, NR_148371.1:n.2045T>C, NR_148374.1:n.2035T>C, NR_148373.1:n.2033T>C, XM_047448017.1:c.1680T>C, NM_001353160.1:c.672T>C, NR_148372.1:n.2018T>C, XM_047448018.1:c.1659T>C, NM_001353152.1:c.1662T>C, NR_148367.1:n.1966T>C, NR_148366.1:n.1962T>C, NM_001353156.1:c.867T>C, NR_148376.1:n.1915T>C, NM_001353158.1:c.738T>C, NR_148375.1:n.1902T>C, NR_148368.1:n.1883T>C, NM_001353147.1:c.1782T>C, NR_148377.1:n.1864T>C, NM_001353153.1:c.1662T>C, NR_148370.1:n.1836T>C, NR_148369.1:n.1834T>C, NM_001353148.1:c.1746T>C, NM_001139489.1:c.1662T>C, NM_001353149.1:c.1743T>C, NM_001353151.1:c.1665T>C, NM_001353150.1:c.1695T>C, NR_148378.1:n.1733T>C, NM_001353154.1:c.1635T>C, XM_047448019.1:c.1632T>C, NM_001353155.1:c.1614T>C, XM_047448020.1:c.756T>C

                              15.

                              rs1478344643 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:56563747 (GRCh38)
                                3:56597775 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:56563746:T:C
                                Gene:
                                CCDC66 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                HGVS:
                                NC_000003.12:g.56563747T>C, NC_000003.11:g.56597775T>C, XM_005265082.5:c.166T>C, XM_005265082.4:c.166T>C, XM_005265082.3:c.166T>C, XM_005265082.2:c.166T>C, XM_005265082.1:c.166T>C, NM_001012506.5:c.64T>C, NM_001012506.4:c.64T>C, XM_005265083.5:c.166T>C, XM_005265083.4:c.166T>C, XM_005265083.3:c.166T>C, XM_005265083.2:c.166T>C, XM_005265083.1:c.166T>C, XM_011533616.4:c.64T>C, XM_011533616.3:c.64T>C, XM_011533616.2:c.64T>C, XM_011533616.1:c.64T>C, XM_011533615.3:c.67T>C, XM_011533615.2:c.67T>C, XM_011533615.1:c.67T>C, NM_001141947.3:c.166T>C, NM_001141947.2:c.166T>C, NM_001141947.1:c.166T>C, XM_024453462.2:c.64T>C, XM_024453462.1:c.64T>C, NR_024460.2:n.253T>C, NR_024460.1:n.253T>C, NR_148371.1:n.253T>C, NR_148374.1:n.253T>C, NR_148373.1:n.253T>C, XM_047448017.1:c.64T>C, NM_001353160.1:c.-1090T>C, NR_148372.1:n.253T>C, XM_047448018.1:c.64T>C, NM_001353152.1:c.64T>C, NR_148367.1:n.253T>C, NR_148366.1:n.253T>C, NM_001353156.1:c.-824T>C, NR_148376.1:n.227T>C, NM_001353158.1:c.-922T>C, NR_148375.1:n.227T>C, NR_148368.1:n.253T>C, NM_001353147.1:c.166T>C, NR_148377.1:n.253T>C, NM_001353153.1:c.64T>C, NR_148370.1:n.234T>C, NR_148369.1:n.253T>C, NM_001353148.1:c.166T>C, NM_001139489.1:c.64T>C, NM_001353149.1:c.166T>C, NM_001353151.1:c.67T>C, NM_001353150.1:c.166T>C, NR_148378.1:n.253T>C, NM_001353154.1:c.166T>C, XM_047448019.1:c.166T>C, NM_001353155.1:c.166T>C, XM_047448021.1:c.166T>C, XP_005265139.1:p.Ser56Pro, NP_001012524.4:p.Ser22Pro, XP_005265140.1:p.Ser56Pro, XP_011531918.1:p.Ser22Pro, XP_011531917.1:p.Ser23Pro, NP_001135419.1:p.Ser56Pro, XP_024309230.1:p.Ser22Pro, XP_047303973.1:p.Ser22Pro, XP_047303974.1:p.Ser22Pro, NP_001340081.1:p.Ser22Pro, NP_001340076.1:p.Ser56Pro, NP_001340082.1:p.Ser22Pro, NP_001340077.1:p.Ser56Pro, NP_001340078.1:p.Ser56Pro, NP_001340080.1:p.Ser23Pro, NP_001340079.1:p.Ser56Pro, NP_001340083.1:p.Ser56Pro, XP_047303975.1:p.Ser56Pro, NP_001340084.1:p.Ser56Pro, XP_047303977.1:p.Ser56Pro

                                16.

                                rs1477802997 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:56619331 (GRCh38)
                                  3:56653359 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:56619330:A:G
                                  Gene:
                                  CCDC66 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.56619331A>G, NC_000003.11:g.56653359A>G, XM_005265082.5:c.2436A>G, XM_005265082.4:c.2436A>G, XM_005265082.3:c.2436A>G, XM_005265082.2:c.2436A>G, XM_005265082.1:c.2436A>G, NM_001012506.5:c.2337A>G, NM_001012506.4:c.2337A>G, XM_005265083.5:c.2328A>G, XM_005265083.4:c.2328A>G, XM_005265083.3:c.2328A>G, XM_005265083.2:c.2328A>G, XM_005265083.1:c.2328A>G, XM_011533616.4:c.2355A>G, XM_011533616.3:c.2355A>G, XM_011533616.2:c.2355A>G, XM_011533616.1:c.2355A>G, XM_011533615.3:c.2358A>G, XM_011533615.2:c.2358A>G, XM_011533615.1:c.2358A>G, NM_001141947.3:c.2439A>G, NM_001141947.2:c.2439A>G, NM_001141947.1:c.2439A>G, XM_024453462.2:c.2355A>G, XM_024453462.1:c.2355A>G, NR_024460.2:n.2507A>G, NR_024460.1:n.2507A>G, XM_024453464.2:c.1857A>G, XM_024453464.1:c.1857A>G, XM_017006239.2:c.1560A>G, XM_017006239.1:c.1560A>G, NR_148371.1:n.2720A>G, NR_148374.1:n.2710A>G, NR_148373.1:n.2708A>G, XM_047448017.1:c.2355A>G, NM_001353160.1:c.1347A>G, NR_148372.1:n.2693A>G, XM_047448018.1:c.2334A>G, NM_001353152.1:c.2337A>G, NR_148367.1:n.2641A>G, NR_148366.1:n.2637A>G, NM_001353156.1:c.1542A>G, NR_148376.1:n.2590A>G, NM_001353158.1:c.1413A>G, NR_148375.1:n.2577A>G, NR_148368.1:n.2558A>G, NM_001353147.1:c.2457A>G, NR_148377.1:n.2539A>G, NM_001353153.1:c.2337A>G, NR_148370.1:n.2511A>G, NR_148369.1:n.2509A>G, NM_001353148.1:c.2421A>G, NM_001139489.1:c.2337A>G, NM_001353149.1:c.2418A>G, NM_001353151.1:c.2340A>G, NM_001353150.1:c.2370A>G, NR_148378.1:n.2408A>G, NM_001353154.1:c.2310A>G, XM_047448019.1:c.2307A>G, NM_001353155.1:c.2289A>G, XM_047448020.1:c.1431A>G

                                  17.

                                  rs1477088737 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAGAA>- [Show Flanks]
                                    Chromosome:
                                    3:56571210 (GRCh38)
                                    3:56605238 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:56571203:AAAGAAAAAGAA:AAAGAA
                                    Gene:
                                    CCDC66 (Varview)
                                    Functional Consequence:
                                    inframe_deletion,coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAGAAAAAGAA=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.56571204AAAGAA[1], NC_000003.11:g.56605232AAAGAA[1], XM_005265082.5:c.817AAAGAA[1], XM_005265082.4:c.817AAAGAA[1], XM_005265082.3:c.817AAAGAA[1], XM_005265082.2:c.817AAAGAA[1], XM_005265082.1:c.817AAAGAA[1], NM_001012506.5:c.736AAAGAA[1], NM_001012506.4:c.736AAAGAA[1], XM_005265083.5:c.838AAAGAA[1], XM_005265083.4:c.838AAAGAA[1], XM_005265083.3:c.838AAAGAA[1], XM_005265083.2:c.838AAAGAA[1], XM_005265083.1:c.838AAAGAA[1], XM_011533616.4:c.736AAAGAA[1], XM_011533616.3:c.736AAAGAA[1], XM_011533616.2:c.736AAAGAA[1], XM_011533616.1:c.736AAAGAA[1], XM_011533615.3:c.739AAAGAA[1], XM_011533615.2:c.739AAAGAA[1], XM_011533615.1:c.739AAAGAA[1], NM_001141947.3:c.838AAAGAA[1], NM_001141947.2:c.838AAAGAA[1], NM_001141947.1:c.838AAAGAA[1], XM_024453462.2:c.736AAAGAA[1], XM_024453462.1:c.736AAAGAA[1], NR_024460.2:n.906AAAGAA[1], NR_024460.1:n.906AAAGAA[1], XM_024453464.2:c.238AAAGAA[1], XM_024453464.1:c.238AAAGAA[1], XM_017006239.2:c.-152AAAGAA[1], XM_017006239.1:c.-152AAAGAA[1], NR_148371.1:n.925AAAGAA[1], NR_148374.1:n.906AAAGAA[1], NR_148373.1:n.904AAAGAA[1], XM_047448017.1:c.736AAAGAA[1], NM_001353160.1:c.-366AAAGAA[1], NR_148372.1:n.977AAAGAA[1], XM_047448018.1:c.715AAAGAA[1], NM_001353152.1:c.736AAAGAA[1], NR_148367.1:n.925AAAGAA[1], NR_148366.1:n.925AAAGAA[1], NM_001353156.1:c.-152AAAGAA[1], NR_148376.1:n.878AAAGAA[1], NM_001353158.1:c.-250AAAGAA[1], NR_148375.1:n.880AAAGAA[1], NR_148368.1:n.925AAAGAA[1], NM_001353147.1:c.838AAAGAA[1], NR_148377.1:n.906AAAGAA[1], NM_001353153.1:c.736AAAGAA[1], NR_148370.1:n.906AAAGAA[1], NR_148369.1:n.904AAAGAA[1], NM_001353148.1:c.838AAAGAA[1], NM_001139489.1:c.736AAAGAA[1], NM_001353149.1:c.817AAAGAA[1], NM_001353151.1:c.739AAAGAA[1], NM_001353150.1:c.838AAAGAA[1], NM_001353154.1:c.838AAAGAA[1], XM_047448019.1:c.817AAAGAA[1], NM_001353155.1:c.817AAAGAA[1], XM_047448020.1:c.-152AAAGAA[1], XM_047448021.1:c.838AAAGAA[1], XP_005265139.1:p.273KE[1], NP_001012524.4:p.246KE[1], XP_005265140.1:p.280KE[1], XP_011531918.1:p.246KE[1], XP_011531917.1:p.247KE[1], NP_001135419.1:p.280KE[1], XP_024309230.1:p.246KE[1], XP_024309232.1:p.80KE[1], XP_047303973.1:p.246KE[1], XP_047303974.1:p.239KE[1], NP_001340081.1:p.246KE[1], NP_001340076.1:p.280KE[1], NP_001340082.1:p.246KE[1], NP_001340077.1:p.280KE[1], NP_001340078.1:p.273KE[1], NP_001340080.1:p.247KE[1], NP_001340079.1:p.280KE[1], NP_001340083.1:p.280KE[1], XP_047303975.1:p.273KE[1], NP_001340084.1:p.273KE[1], XP_047303977.1:p.280KE[1]

                                    18.

                                    rs1475663214 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:56566607 (GRCh38)
                                      3:56600635 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:56566606:A:G
                                      Gene:
                                      CCDC66 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.56566607A>G, NC_000003.11:g.56600635A>G, XM_005265082.5:c.558A>G, XM_005265082.4:c.558A>G, XM_005265082.3:c.558A>G, XM_005265082.2:c.558A>G, XM_005265082.1:c.558A>G, NM_001012506.5:c.456A>G, NM_001012506.4:c.456A>G, XM_005265083.5:c.558A>G, XM_005265083.4:c.558A>G, XM_005265083.3:c.558A>G, XM_005265083.2:c.558A>G, XM_005265083.1:c.558A>G, XM_011533616.4:c.456A>G, XM_011533616.3:c.456A>G, XM_011533616.2:c.456A>G, XM_011533616.1:c.456A>G, XM_011533615.3:c.459A>G, XM_011533615.2:c.459A>G, XM_011533615.1:c.459A>G, NM_001141947.3:c.558A>G, NM_001141947.2:c.558A>G, NM_001141947.1:c.558A>G, XM_024453462.2:c.456A>G, XM_024453462.1:c.456A>G, NR_024460.2:n.645A>G, NR_024460.1:n.645A>G, XM_024453464.2:c.-43A>G, XM_024453464.1:c.-43A>G, NR_148371.1:n.645A>G, NR_148374.1:n.645A>G, NR_148373.1:n.645A>G, XM_047448017.1:c.456A>G, NM_001353160.1:c.-627A>G, NR_148372.1:n.716A>G, XM_047448018.1:c.456A>G, NM_001353152.1:c.456A>G, NR_148367.1:n.645A>G, NR_148366.1:n.645A>G, NM_001353156.1:c.-432A>G, NR_148376.1:n.619A>G, NM_001353158.1:c.-530A>G, NR_148375.1:n.619A>G, NR_148368.1:n.645A>G, NM_001353147.1:c.558A>G, NR_148377.1:n.645A>G, NM_001353153.1:c.456A>G, NR_148370.1:n.626A>G, NR_148369.1:n.645A>G, NM_001353148.1:c.558A>G, NM_001139489.1:c.456A>G, NM_001353149.1:c.558A>G, NM_001353151.1:c.459A>G, NM_001353150.1:c.558A>G, NR_148378.1:n.645A>G, NM_001353154.1:c.558A>G, XM_047448019.1:c.558A>G, NM_001353155.1:c.558A>G, XM_047448021.1:c.558A>G

                                      19.

                                      rs1473780775 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        3:56566958 (GRCh38)
                                        3:56600986 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:56566957:A:T
                                        Gene:
                                        CCDC66 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.56566958A>T, NC_000003.11:g.56600986A>T, XM_005265082.5:c.698A>T, XM_005265082.4:c.698A>T, XM_005265082.3:c.698A>T, XM_005265082.2:c.698A>T, XM_005265082.1:c.698A>T, NM_001012506.5:c.617A>T, NM_001012506.4:c.617A>T, XM_005265083.5:c.719A>T, XM_005265083.4:c.719A>T, XM_005265083.3:c.719A>T, XM_005265083.2:c.719A>T, XM_005265083.1:c.719A>T, XM_011533616.4:c.617A>T, XM_011533616.3:c.617A>T, XM_011533616.2:c.617A>T, XM_011533616.1:c.617A>T, XM_011533615.3:c.620A>T, XM_011533615.2:c.620A>T, XM_011533615.1:c.620A>T, NM_001141947.3:c.719A>T, NM_001141947.2:c.719A>T, NM_001141947.1:c.719A>T, XM_024453462.2:c.617A>T, XM_024453462.1:c.617A>T, NR_024460.2:n.787A>T, NR_024460.1:n.787A>T, XM_024453464.2:c.119A>T, XM_024453464.1:c.119A>T, NR_148371.1:n.806A>T, NR_148374.1:n.787A>T, NR_148373.1:n.785A>T, XM_047448017.1:c.617A>T, NM_001353160.1:c.-485A>T, NR_148372.1:n.858A>T, XM_047448018.1:c.596A>T, NM_001353152.1:c.617A>T, NR_148367.1:n.806A>T, NR_148366.1:n.806A>T, NM_001353156.1:c.-271A>T, NR_148376.1:n.759A>T, NM_001353158.1:c.-369A>T, NR_148375.1:n.761A>T, NR_148368.1:n.806A>T, NM_001353147.1:c.719A>T, NR_148377.1:n.787A>T, NM_001353153.1:c.617A>T, NR_148370.1:n.787A>T, NR_148369.1:n.785A>T, NM_001353148.1:c.719A>T, NM_001139489.1:c.617A>T, NM_001353149.1:c.698A>T, NM_001353151.1:c.620A>T, NM_001353150.1:c.719A>T, NR_148378.1:n.806A>T, NM_001353154.1:c.719A>T, XM_047448019.1:c.698A>T, NM_001353155.1:c.698A>T, XM_047448021.1:c.719A>T, XP_005265139.1:p.Glu233Val, NP_001012524.4:p.Glu206Val, XP_005265140.1:p.Glu240Val, XP_011531918.1:p.Glu206Val, XP_011531917.1:p.Glu207Val, NP_001135419.1:p.Glu240Val, XP_024309230.1:p.Glu206Val, XP_024309232.1:p.Glu40Val, XP_047303973.1:p.Glu206Val, XP_047303974.1:p.Glu199Val, NP_001340081.1:p.Glu206Val, NP_001340076.1:p.Glu240Val, NP_001340082.1:p.Glu206Val, NP_001340077.1:p.Glu240Val, NP_001340078.1:p.Glu233Val, NP_001340080.1:p.Glu207Val, NP_001340079.1:p.Glu240Val, NP_001340083.1:p.Glu240Val, XP_047303975.1:p.Glu233Val, NP_001340084.1:p.Glu233Val, XP_047303977.1:p.Glu240Val

                                        20.

                                        rs1473221230 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          3:56571299 (GRCh38)
                                          3:56605327 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:56571298:T:G
                                          Gene:
                                          CCDC66 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.56571299T>G, NC_000003.11:g.56605327T>G, XM_005265082.5:c.912T>G, XM_005265082.4:c.912T>G, XM_005265082.3:c.912T>G, XM_005265082.2:c.912T>G, XM_005265082.1:c.912T>G, NM_001012506.5:c.831T>G, NM_001012506.4:c.831T>G, XM_005265083.5:c.933T>G, XM_005265083.4:c.933T>G, XM_005265083.3:c.933T>G, XM_005265083.2:c.933T>G, XM_005265083.1:c.933T>G, XM_011533616.4:c.831T>G, XM_011533616.3:c.831T>G, XM_011533616.2:c.831T>G, XM_011533616.1:c.831T>G, XM_011533615.3:c.834T>G, XM_011533615.2:c.834T>G, XM_011533615.1:c.834T>G, NM_001141947.3:c.933T>G, NM_001141947.2:c.933T>G, NM_001141947.1:c.933T>G, XM_024453462.2:c.831T>G, XM_024453462.1:c.831T>G, NR_024460.2:n.1001T>G, NR_024460.1:n.1001T>G, XM_024453464.2:c.333T>G, XM_024453464.1:c.333T>G, XM_017006239.2:c.-57T>G, XM_017006239.1:c.-57T>G, NR_148371.1:n.1020T>G, NR_148374.1:n.1001T>G, NR_148373.1:n.999T>G, XM_047448017.1:c.831T>G, NM_001353160.1:c.-271T>G, NR_148372.1:n.1072T>G, XM_047448018.1:c.810T>G, NM_001353152.1:c.831T>G, NR_148367.1:n.1020T>G, NR_148366.1:n.1020T>G, NM_001353156.1:c.-57T>G, NR_148376.1:n.973T>G, NM_001353158.1:c.-155T>G, NR_148375.1:n.975T>G, NR_148368.1:n.1020T>G, NM_001353147.1:c.933T>G, NR_148377.1:n.1001T>G, NM_001353153.1:c.831T>G, NR_148370.1:n.1001T>G, NR_148369.1:n.999T>G, NM_001353148.1:c.933T>G, NM_001139489.1:c.831T>G, NM_001353149.1:c.912T>G, NM_001353151.1:c.834T>G, NM_001353150.1:c.933T>G, NM_001353154.1:c.933T>G, XM_047448019.1:c.912T>G, NM_001353155.1:c.912T>G, XM_047448020.1:c.-57T>G, XM_047448021.1:c.933T>G

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