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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.

    rs1491031400 has merged into rs11401064 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACCGAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      3:56621827 (GRCh38)
      3:56655855 (GRCh37)
      Canonical SPDI:
      NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:56621818:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACCGAAAAAAAAAAAAAAAAAAAA
      Gene:
      TASOR (Varview), CCDC66 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAA=0./0 (ALFA)
      -=0.000019/5 (TOPMED)
      HGVS:
      NC_000003.12:g.56621827_56621837del, NC_000003.12:g.56621828_56621837del, NC_000003.12:g.56621831_56621837del, NC_000003.12:g.56621832_56621837del, NC_000003.12:g.56621833_56621837del, NC_000003.12:g.56621834_56621837del, NC_000003.12:g.56621835_56621837del, NC_000003.12:g.56621836_56621837del, NC_000003.12:g.56621837del, NC_000003.12:g.56621837dup, NC_000003.12:g.56621836_56621837dup, NC_000003.12:g.56621835_56621837dup, NC_000003.12:g.56621834_56621837dup, NC_000003.12:g.56621833_56621837dup, NC_000003.12:g.56621831_56621837dup, NC_000003.12:g.56621819_56621837A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.56655855_56655865del, NC_000003.11:g.56655856_56655865del, NC_000003.11:g.56655859_56655865del, NC_000003.11:g.56655860_56655865del, NC_000003.11:g.56655861_56655865del, NC_000003.11:g.56655862_56655865del, NC_000003.11:g.56655863_56655865del, NC_000003.11:g.56655864_56655865del, NC_000003.11:g.56655865del, NC_000003.11:g.56655865dup, NC_000003.11:g.56655864_56655865dup, NC_000003.11:g.56655863_56655865dup, NC_000003.11:g.56655862_56655865dup, NC_000003.11:g.56655861_56655865dup, NC_000003.11:g.56655859_56655865dup, NC_000003.11:g.56655847_56655865A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_005265082.5:c.*209_*219del, XM_005265082.5:c.*210_*219del, XM_005265082.5:c.*213_*219del, XM_005265082.5:c.*214_*219del, XM_005265082.5:c.*215_*219del, XM_005265082.5:c.*216_*219del, XM_005265082.5:c.*217_*219del, XM_005265082.5:c.*218_*219del, XM_005265082.5:c.*219del, XM_005265082.5:c.*219dup, XM_005265082.5:c.*218_*219dup, XM_005265082.5:c.*217_*219dup, XM_005265082.5:c.*216_*219dup, XM_005265082.5:c.*215_*219dup, XM_005265082.5:c.*213_*219dup, XM_005265082.5:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_005265082.4:c.*209_*219del, XM_005265082.4:c.*210_*219del, XM_005265082.4:c.*213_*219del, XM_005265082.4:c.*214_*219del, XM_005265082.4:c.*215_*219del, XM_005265082.4:c.*216_*219del, XM_005265082.4:c.*217_*219del, XM_005265082.4:c.*218_*219del, XM_005265082.4:c.*219del, XM_005265082.4:c.*219dup, XM_005265082.4:c.*218_*219dup, XM_005265082.4:c.*217_*219dup, XM_005265082.4:c.*216_*219dup, XM_005265082.4:c.*215_*219dup, XM_005265082.4:c.*213_*219dup, XM_005265082.4:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_005265082.3:c.*209_*219del, XM_005265082.3:c.*210_*219del, XM_005265082.3:c.*213_*219del, XM_005265082.3:c.*214_*219del, XM_005265082.3:c.*215_*219del, XM_005265082.3:c.*216_*219del, XM_005265082.3:c.*217_*219del, XM_005265082.3:c.*218_*219del, XM_005265082.3:c.*219del, XM_005265082.3:c.*219dup, XM_005265082.3:c.*218_*219dup, XM_005265082.3:c.*217_*219dup, XM_005265082.3:c.*216_*219dup, XM_005265082.3:c.*215_*219dup, XM_005265082.3:c.*213_*219dup, XM_005265082.3:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001012506.5:c.*220_*230del, NM_001012506.5:c.*221_*230del, NM_001012506.5:c.*224_*230del, NM_001012506.5:c.*225_*230del, NM_001012506.5:c.*226_*230del, NM_001012506.5:c.*227_*230del, NM_001012506.5:c.*228_*230del, NM_001012506.5:c.*229_*230del, NM_001012506.5:c.*230del, NM_001012506.5:c.*230dup, NM_001012506.5:c.*229_*230dup, NM_001012506.5:c.*228_*230dup, NM_001012506.5:c.*227_*230dup, NM_001012506.5:c.*226_*230dup, NM_001012506.5:c.*224_*230dup, NM_001012506.5:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001012506.4:c.*218dup, NM_001012506.4:c.*209_*218del, NM_001012506.4:c.*210_*218del, NM_001012506.4:c.*213_*218del, NM_001012506.4:c.*214_*218del, NM_001012506.4:c.*215_*218del, NM_001012506.4:c.*216_*218del, NM_001012506.4:c.*217_*218del, NM_001012506.4:c.*218del, NM_001012506.4:c.*217_*218dup, NM_001012506.4:c.*216_*218dup, NM_001012506.4:c.*215_*218dup, NM_001012506.4:c.*214_*218dup, NM_001012506.4:c.*213_*218dup, NM_001012506.4:c.*211_*218dup, NM_001012506.4:c.*201_*218A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_005265083.5:c.*209_*219del, XM_005265083.5:c.*210_*219del, XM_005265083.5:c.*213_*219del, XM_005265083.5:c.*214_*219del, XM_005265083.5:c.*215_*219del, XM_005265083.5:c.*216_*219del, XM_005265083.5:c.*217_*219del, XM_005265083.5:c.*218_*219del, XM_005265083.5:c.*219del, XM_005265083.5:c.*219dup, XM_005265083.5:c.*218_*219dup, XM_005265083.5:c.*217_*219dup, XM_005265083.5:c.*216_*219dup, XM_005265083.5:c.*215_*219dup, XM_005265083.5:c.*213_*219dup, XM_005265083.5:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_005265083.4:c.*209_*219del, XM_005265083.4:c.*210_*219del, XM_005265083.4:c.*213_*219del, XM_005265083.4:c.*214_*219del, XM_005265083.4:c.*215_*219del, XM_005265083.4:c.*216_*219del, XM_005265083.4:c.*217_*219del, XM_005265083.4:c.*218_*219del, XM_005265083.4:c.*219del, XM_005265083.4:c.*219dup, XM_005265083.4:c.*218_*219dup, XM_005265083.4:c.*217_*219dup, XM_005265083.4:c.*216_*219dup, XM_005265083.4:c.*215_*219dup, XM_005265083.4:c.*213_*219dup, XM_005265083.4:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_005265083.3:c.*209_*219del, XM_005265083.3:c.*210_*219del, XM_005265083.3:c.*213_*219del, XM_005265083.3:c.*214_*219del, XM_005265083.3:c.*215_*219del, XM_005265083.3:c.*216_*219del, XM_005265083.3:c.*217_*219del, XM_005265083.3:c.*218_*219del, XM_005265083.3:c.*219del, XM_005265083.3:c.*219dup, XM_005265083.3:c.*218_*219dup, XM_005265083.3:c.*217_*219dup, XM_005265083.3:c.*216_*219dup, XM_005265083.3:c.*215_*219dup, XM_005265083.3:c.*213_*219dup, XM_005265083.3:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_011533616.4:c.*209_*219del, XM_011533616.4:c.*210_*219del, XM_011533616.4:c.*213_*219del, XM_011533616.4:c.*214_*219del, XM_011533616.4:c.*215_*219del, XM_011533616.4:c.*216_*219del, XM_011533616.4:c.*217_*219del, XM_011533616.4:c.*218_*219del, XM_011533616.4:c.*219del, XM_011533616.4:c.*219dup, XM_011533616.4:c.*218_*219dup, XM_011533616.4:c.*217_*219dup, XM_011533616.4:c.*216_*219dup, XM_011533616.4:c.*215_*219dup, XM_011533616.4:c.*213_*219dup, XM_011533616.4:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_011533616.3:c.*209_*219del, XM_011533616.3:c.*210_*219del, XM_011533616.3:c.*213_*219del, XM_011533616.3:c.*214_*219del, XM_011533616.3:c.*215_*219del, XM_011533616.3:c.*216_*219del, XM_011533616.3:c.*217_*219del, XM_011533616.3:c.*218_*219del, XM_011533616.3:c.*219del, XM_011533616.3:c.*219dup, XM_011533616.3:c.*218_*219dup, XM_011533616.3:c.*217_*219dup, XM_011533616.3:c.*216_*219dup, XM_011533616.3:c.*215_*219dup, XM_011533616.3:c.*213_*219dup, XM_011533616.3:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_011533616.2:c.*209_*219del, XM_011533616.2:c.*210_*219del, XM_011533616.2:c.*213_*219del, XM_011533616.2:c.*214_*219del, XM_011533616.2:c.*215_*219del, XM_011533616.2:c.*216_*219del, XM_011533616.2:c.*217_*219del, XM_011533616.2:c.*218_*219del, XM_011533616.2:c.*219del, XM_011533616.2:c.*219dup, XM_011533616.2:c.*218_*219dup, XM_011533616.2:c.*217_*219dup, XM_011533616.2:c.*216_*219dup, XM_011533616.2:c.*215_*219dup, XM_011533616.2:c.*213_*219dup, XM_011533616.2:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_015224.3:c.*1208_*1218del, NM_015224.3:c.*1209_*1218del, NM_015224.3:c.*1212_*1218del, NM_015224.3:c.*1213_*1218del, NM_015224.3:c.*1214_*1218del, NM_015224.3:c.*1215_*1218del, NM_015224.3:c.*1216_*1218del, NM_015224.3:c.*1217_*1218del, NM_015224.3:c.*1218del, NM_015224.3:c.*1218dup, NM_015224.3:c.*1217_*1218dup, NM_015224.3:c.*1216_*1218dup, NM_015224.3:c.*1215_*1218dup, NM_015224.3:c.*1214_*1218dup, NM_015224.3:c.*1212_*1218dup, NM_015224.3:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], XM_011533615.3:c.*209_*219del, XM_011533615.3:c.*210_*219del, XM_011533615.3:c.*213_*219del, XM_011533615.3:c.*214_*219del, XM_011533615.3:c.*215_*219del, XM_011533615.3:c.*216_*219del, XM_011533615.3:c.*217_*219del, XM_011533615.3:c.*218_*219del, XM_011533615.3:c.*219del, XM_011533615.3:c.*219dup, XM_011533615.3:c.*218_*219dup, XM_011533615.3:c.*217_*219dup, XM_011533615.3:c.*216_*219dup, XM_011533615.3:c.*215_*219dup, XM_011533615.3:c.*213_*219dup, XM_011533615.3:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_011533615.2:c.*209_*219del, XM_011533615.2:c.*210_*219del, XM_011533615.2:c.*213_*219del, XM_011533615.2:c.*214_*219del, XM_011533615.2:c.*215_*219del, XM_011533615.2:c.*216_*219del, XM_011533615.2:c.*217_*219del, XM_011533615.2:c.*218_*219del, XM_011533615.2:c.*219del, XM_011533615.2:c.*219dup, XM_011533615.2:c.*218_*219dup, XM_011533615.2:c.*217_*219dup, XM_011533615.2:c.*216_*219dup, XM_011533615.2:c.*215_*219dup, XM_011533615.2:c.*213_*219dup, XM_011533615.2:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001141947.3:c.*209_*219del, NM_001141947.3:c.*210_*219del, NM_001141947.3:c.*213_*219del, NM_001141947.3:c.*214_*219del, NM_001141947.3:c.*215_*219del, NM_001141947.3:c.*216_*219del, NM_001141947.3:c.*217_*219del, NM_001141947.3:c.*218_*219del, NM_001141947.3:c.*219del, NM_001141947.3:c.*219dup, NM_001141947.3:c.*218_*219dup, NM_001141947.3:c.*217_*219dup, NM_001141947.3:c.*216_*219dup, NM_001141947.3:c.*215_*219dup, NM_001141947.3:c.*213_*219dup, NM_001141947.3:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001141947.2:c.*220_*230del, NM_001141947.2:c.*221_*230del, NM_001141947.2:c.*224_*230del, NM_001141947.2:c.*225_*230del, NM_001141947.2:c.*226_*230del, NM_001141947.2:c.*227_*230del, NM_001141947.2:c.*228_*230del, NM_001141947.2:c.*229_*230del, NM_001141947.2:c.*230del, NM_001141947.2:c.*230dup, NM_001141947.2:c.*229_*230dup, NM_001141947.2:c.*228_*230dup, NM_001141947.2:c.*227_*230dup, NM_001141947.2:c.*226_*230dup, NM_001141947.2:c.*224_*230dup, NM_001141947.2:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001141947.1:c.*218dup, NM_001141947.1:c.*209_*218del, NM_001141947.1:c.*210_*218del, NM_001141947.1:c.*213_*218del, NM_001141947.1:c.*214_*218del, NM_001141947.1:c.*215_*218del, NM_001141947.1:c.*216_*218del, NM_001141947.1:c.*217_*218del, NM_001141947.1:c.*218del, NM_001141947.1:c.*217_*218dup, NM_001141947.1:c.*216_*218dup, NM_001141947.1:c.*215_*218dup, NM_001141947.1:c.*214_*218dup, NM_001141947.1:c.*213_*218dup, NM_001141947.1:c.*211_*218dup, NM_001141947.1:c.*201_*218A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001112736.2:c.*1959_*1969del, NM_001112736.2:c.*1960_*1969del, NM_001112736.2:c.*1963_*1969del, NM_001112736.2:c.*1964_*1969del, NM_001112736.2:c.*1965_*1969del, NM_001112736.2:c.*1966_*1969del, NM_001112736.2:c.*1967_*1969del, NM_001112736.2:c.*1968_*1969del, NM_001112736.2:c.*1969del, NM_001112736.2:c.*1969dup, NM_001112736.2:c.*1968_*1969dup, NM_001112736.2:c.*1967_*1969dup, NM_001112736.2:c.*1966_*1969dup, NM_001112736.2:c.*1965_*1969dup, NM_001112736.2:c.*1963_*1969dup, NM_001112736.2:c.*1951_*1969T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001112736.1:c.*1959_*1969del, NM_001112736.1:c.*1960_*1969del, NM_001112736.1:c.*1963_*1969del, NM_001112736.1:c.*1964_*1969del, NM_001112736.1:c.*1965_*1969del, NM_001112736.1:c.*1966_*1969del, NM_001112736.1:c.*1967_*1969del, NM_001112736.1:c.*1968_*1969del, NM_001112736.1:c.*1969del, NM_001112736.1:c.*1969dup, NM_001112736.1:c.*1968_*1969dup, NM_001112736.1:c.*1967_*1969dup, NM_001112736.1:c.*1966_*1969dup, NM_001112736.1:c.*1965_*1969dup, NM_001112736.1:c.*1963_*1969dup, NM_001112736.1:c.*1951_*1969T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365637.2:c.*1959_*1969del, NM_001365637.2:c.*1960_*1969del, NM_001365637.2:c.*1963_*1969del, NM_001365637.2:c.*1964_*1969del, NM_001365637.2:c.*1965_*1969del, NM_001365637.2:c.*1966_*1969del, NM_001365637.2:c.*1967_*1969del, NM_001365637.2:c.*1968_*1969del, NM_001365637.2:c.*1969del, NM_001365637.2:c.*1969dup, NM_001365637.2:c.*1968_*1969dup, NM_001365637.2:c.*1967_*1969dup, NM_001365637.2:c.*1966_*1969dup, NM_001365637.2:c.*1965_*1969dup, NM_001365637.2:c.*1963_*1969dup, NM_001365637.2:c.*1951_*1969T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365637.1:c.*1959_*1969del, NM_001365637.1:c.*1960_*1969del, NM_001365637.1:c.*1963_*1969del, NM_001365637.1:c.*1964_*1969del, NM_001365637.1:c.*1965_*1969del, NM_001365637.1:c.*1966_*1969del, NM_001365637.1:c.*1967_*1969del, NM_001365637.1:c.*1968_*1969del, NM_001365637.1:c.*1969del, NM_001365637.1:c.*1969dup, NM_001365637.1:c.*1968_*1969dup, NM_001365637.1:c.*1967_*1969dup, NM_001365637.1:c.*1966_*1969dup, NM_001365637.1:c.*1965_*1969dup, NM_001365637.1:c.*1963_*1969dup, NM_001365637.1:c.*1951_*1969T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365638.2:c.*1959_*1969del, NM_001365638.2:c.*1960_*1969del, NM_001365638.2:c.*1963_*1969del, NM_001365638.2:c.*1964_*1969del, NM_001365638.2:c.*1965_*1969del, NM_001365638.2:c.*1966_*1969del, NM_001365638.2:c.*1967_*1969del, NM_001365638.2:c.*1968_*1969del, NM_001365638.2:c.*1969del, NM_001365638.2:c.*1969dup, NM_001365638.2:c.*1968_*1969dup, NM_001365638.2:c.*1967_*1969dup, NM_001365638.2:c.*1966_*1969dup, NM_001365638.2:c.*1965_*1969dup, NM_001365638.2:c.*1963_*1969dup, NM_001365638.2:c.*1951_*1969T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365638.1:c.*1959_*1969del, NM_001365638.1:c.*1960_*1969del, NM_001365638.1:c.*1963_*1969del, NM_001365638.1:c.*1964_*1969del, NM_001365638.1:c.*1965_*1969del, NM_001365638.1:c.*1966_*1969del, NM_001365638.1:c.*1967_*1969del, NM_001365638.1:c.*1968_*1969del, NM_001365638.1:c.*1969del, NM_001365638.1:c.*1969dup, NM_001365638.1:c.*1968_*1969dup, NM_001365638.1:c.*1967_*1969dup, NM_001365638.1:c.*1966_*1969dup, NM_001365638.1:c.*1965_*1969dup, NM_001365638.1:c.*1963_*1969dup, NM_001365638.1:c.*1951_*1969T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365635.2:c.*1208_*1218del, NM_001365635.2:c.*1209_*1218del, NM_001365635.2:c.*1212_*1218del, NM_001365635.2:c.*1213_*1218del, NM_001365635.2:c.*1214_*1218del, NM_001365635.2:c.*1215_*1218del, NM_001365635.2:c.*1216_*1218del, NM_001365635.2:c.*1217_*1218del, NM_001365635.2:c.*1218del, NM_001365635.2:c.*1218dup, NM_001365635.2:c.*1217_*1218dup, NM_001365635.2:c.*1216_*1218dup, NM_001365635.2:c.*1215_*1218dup, NM_001365635.2:c.*1214_*1218dup, NM_001365635.2:c.*1212_*1218dup, NM_001365635.2:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365635.1:c.*1208_*1218del, NM_001365635.1:c.*1209_*1218del, NM_001365635.1:c.*1212_*1218del, NM_001365635.1:c.*1213_*1218del, NM_001365635.1:c.*1214_*1218del, NM_001365635.1:c.*1215_*1218del, NM_001365635.1:c.*1216_*1218del, NM_001365635.1:c.*1217_*1218del, NM_001365635.1:c.*1218del, NM_001365635.1:c.*1218dup, NM_001365635.1:c.*1217_*1218dup, NM_001365635.1:c.*1216_*1218dup, NM_001365635.1:c.*1215_*1218dup, NM_001365635.1:c.*1214_*1218dup, NM_001365635.1:c.*1212_*1218dup, NM_001365635.1:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365636.2:c.*1208_*1218del, NM_001365636.2:c.*1209_*1218del, NM_001365636.2:c.*1212_*1218del, NM_001365636.2:c.*1213_*1218del, NM_001365636.2:c.*1214_*1218del, NM_001365636.2:c.*1215_*1218del, NM_001365636.2:c.*1216_*1218del, NM_001365636.2:c.*1217_*1218del, NM_001365636.2:c.*1218del, NM_001365636.2:c.*1218dup, NM_001365636.2:c.*1217_*1218dup, NM_001365636.2:c.*1216_*1218dup, NM_001365636.2:c.*1215_*1218dup, NM_001365636.2:c.*1214_*1218dup, NM_001365636.2:c.*1212_*1218dup, NM_001365636.2:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NM_001365636.1:c.*1208_*1218del, NM_001365636.1:c.*1209_*1218del, NM_001365636.1:c.*1212_*1218del, NM_001365636.1:c.*1213_*1218del, NM_001365636.1:c.*1214_*1218del, NM_001365636.1:c.*1215_*1218del, NM_001365636.1:c.*1216_*1218del, NM_001365636.1:c.*1217_*1218del, NM_001365636.1:c.*1218del, NM_001365636.1:c.*1218dup, NM_001365636.1:c.*1217_*1218dup, NM_001365636.1:c.*1216_*1218dup, NM_001365636.1:c.*1215_*1218dup, NM_001365636.1:c.*1214_*1218dup, NM_001365636.1:c.*1212_*1218dup, NM_001365636.1:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], XM_024453462.2:c.*209_*219del, XM_024453462.2:c.*210_*219del, XM_024453462.2:c.*213_*219del, XM_024453462.2:c.*214_*219del, XM_024453462.2:c.*215_*219del, XM_024453462.2:c.*216_*219del, XM_024453462.2:c.*217_*219del, XM_024453462.2:c.*218_*219del, XM_024453462.2:c.*219del, XM_024453462.2:c.*219dup, XM_024453462.2:c.*218_*219dup, XM_024453462.2:c.*217_*219dup, XM_024453462.2:c.*216_*219dup, XM_024453462.2:c.*215_*219dup, XM_024453462.2:c.*213_*219dup, XM_024453462.2:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_024453462.1:c.*209_*219del, XM_024453462.1:c.*210_*219del, XM_024453462.1:c.*213_*219del, XM_024453462.1:c.*214_*219del, XM_024453462.1:c.*215_*219del, XM_024453462.1:c.*216_*219del, XM_024453462.1:c.*217_*219del, XM_024453462.1:c.*218_*219del, XM_024453462.1:c.*219del, XM_024453462.1:c.*219dup, XM_024453462.1:c.*218_*219dup, XM_024453462.1:c.*217_*219dup, XM_024453462.1:c.*216_*219dup, XM_024453462.1:c.*215_*219dup, XM_024453462.1:c.*213_*219dup, XM_024453462.1:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NR_024460.2:n.3135_3145del, NR_024460.2:n.3136_3145del, NR_024460.2:n.3139_3145del, NR_024460.2:n.3140_3145del, NR_024460.2:n.3141_3145del, NR_024460.2:n.3142_3145del, NR_024460.2:n.3143_3145del, NR_024460.2:n.3144_3145del, NR_024460.2:n.3145del, NR_024460.2:n.3145dup, NR_024460.2:n.3144_3145dup, NR_024460.2:n.3143_3145dup, NR_024460.2:n.3142_3145dup, NR_024460.2:n.3141_3145dup, NR_024460.2:n.3139_3145dup, NR_024460.2:n.3116_3135A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_024460.1:n.3133dup, NR_024460.1:n.3124_3133del, NR_024460.1:n.3125_3133del, NR_024460.1:n.3128_3133del, NR_024460.1:n.3129_3133del, NR_024460.1:n.3130_3133del, NR_024460.1:n.3131_3133del, NR_024460.1:n.3132_3133del, NR_024460.1:n.3133del, NR_024460.1:n.3132_3133dup, NR_024460.1:n.3131_3133dup, NR_024460.1:n.3130_3133dup, NR_024460.1:n.3129_3133dup, NR_024460.1:n.3128_3133dup, NR_024460.1:n.3126_3133dup, NR_024460.1:n.3116_3133A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_024453464.2:c.*209_*219del, XM_024453464.2:c.*210_*219del, XM_024453464.2:c.*213_*219del, XM_024453464.2:c.*214_*219del, XM_024453464.2:c.*215_*219del, XM_024453464.2:c.*216_*219del, XM_024453464.2:c.*217_*219del, XM_024453464.2:c.*218_*219del, XM_024453464.2:c.*219del, XM_024453464.2:c.*219dup, XM_024453464.2:c.*218_*219dup, XM_024453464.2:c.*217_*219dup, XM_024453464.2:c.*216_*219dup, XM_024453464.2:c.*215_*219dup, XM_024453464.2:c.*213_*219dup, XM_024453464.2:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_024453464.1:c.*209_*219del, XM_024453464.1:c.*210_*219del, XM_024453464.1:c.*213_*219del, XM_024453464.1:c.*214_*219del, XM_024453464.1:c.*215_*219del, XM_024453464.1:c.*216_*219del, XM_024453464.1:c.*217_*219del, XM_024453464.1:c.*218_*219del, XM_024453464.1:c.*219del, XM_024453464.1:c.*219dup, XM_024453464.1:c.*218_*219dup, XM_024453464.1:c.*217_*219dup, XM_024453464.1:c.*216_*219dup, XM_024453464.1:c.*215_*219dup, XM_024453464.1:c.*213_*219dup, XM_024453464.1:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_017006239.2:c.*209_*219del, XM_017006239.2:c.*210_*219del, XM_017006239.2:c.*213_*219del, XM_017006239.2:c.*214_*219del, XM_017006239.2:c.*215_*219del, XM_017006239.2:c.*216_*219del, XM_017006239.2:c.*217_*219del, XM_017006239.2:c.*218_*219del, XM_017006239.2:c.*219del, XM_017006239.2:c.*219dup, XM_017006239.2:c.*218_*219dup, XM_017006239.2:c.*217_*219dup, XM_017006239.2:c.*216_*219dup, XM_017006239.2:c.*215_*219dup, XM_017006239.2:c.*213_*219dup, XM_017006239.2:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], XM_017006239.1:c.*209_*219del, XM_017006239.1:c.*210_*219del, XM_017006239.1:c.*213_*219del, XM_017006239.1:c.*214_*219del, XM_017006239.1:c.*215_*219del, XM_017006239.1:c.*216_*219del, XM_017006239.1:c.*217_*219del, XM_017006239.1:c.*218_*219del, XM_017006239.1:c.*219del, XM_017006239.1:c.*219dup, XM_017006239.1:c.*218_*219dup, XM_017006239.1:c.*217_*219dup, XM_017006239.1:c.*216_*219dup, XM_017006239.1:c.*215_*219dup, XM_017006239.1:c.*213_*219dup, XM_017006239.1:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001363940.1:c.*1208_*1218del, NM_001363940.1:c.*1209_*1218del, NM_001363940.1:c.*1212_*1218del, NM_001363940.1:c.*1213_*1218del, NM_001363940.1:c.*1214_*1218del, NM_001363940.1:c.*1215_*1218del, NM_001363940.1:c.*1216_*1218del, NM_001363940.1:c.*1217_*1218del, NM_001363940.1:c.*1218del, NM_001363940.1:c.*1218dup, NM_001363940.1:c.*1217_*1218dup, NM_001363940.1:c.*1216_*1218dup, NM_001363940.1:c.*1215_*1218dup, NM_001363940.1:c.*1214_*1218dup, NM_001363940.1:c.*1212_*1218dup, NM_001363940.1:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], XM_047447814.1:c.*1208_*1218del, XM_047447814.1:c.*1209_*1218del, XM_047447814.1:c.*1212_*1218del, XM_047447814.1:c.*1213_*1218del, XM_047447814.1:c.*1214_*1218del, XM_047447814.1:c.*1215_*1218del, XM_047447814.1:c.*1216_*1218del, XM_047447814.1:c.*1217_*1218del, XM_047447814.1:c.*1218del, XM_047447814.1:c.*1218dup, XM_047447814.1:c.*1217_*1218dup, XM_047447814.1:c.*1216_*1218dup, XM_047447814.1:c.*1215_*1218dup, XM_047447814.1:c.*1214_*1218dup, XM_047447814.1:c.*1212_*1218dup, XM_047447814.1:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], XM_047447815.1:c.*1208_*1218del, XM_047447815.1:c.*1209_*1218del, XM_047447815.1:c.*1212_*1218del, XM_047447815.1:c.*1213_*1218del, XM_047447815.1:c.*1214_*1218del, XM_047447815.1:c.*1215_*1218del, XM_047447815.1:c.*1216_*1218del, XM_047447815.1:c.*1217_*1218del, XM_047447815.1:c.*1218del, XM_047447815.1:c.*1218dup, XM_047447815.1:c.*1217_*1218dup, XM_047447815.1:c.*1216_*1218dup, XM_047447815.1:c.*1215_*1218dup, XM_047447815.1:c.*1214_*1218dup, XM_047447815.1:c.*1212_*1218dup, XM_047447815.1:c.*1200_*1218T[20]CGGTTTTTTTTTTTTTTTTTTTT[1], NR_148371.1:n.3348_3358del, NR_148371.1:n.3349_3358del, NR_148371.1:n.3352_3358del, NR_148371.1:n.3353_3358del, NR_148371.1:n.3354_3358del, NR_148371.1:n.3355_3358del, NR_148371.1:n.3356_3358del, NR_148371.1:n.3357_3358del, NR_148371.1:n.3358del, NR_148371.1:n.3358dup, NR_148371.1:n.3357_3358dup, NR_148371.1:n.3356_3358dup, NR_148371.1:n.3355_3358dup, NR_148371.1:n.3354_3358dup, NR_148371.1:n.3352_3358dup, NR_148371.1:n.3329_3348A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148374.1:n.3338_3348del, NR_148374.1:n.3339_3348del, NR_148374.1:n.3342_3348del, NR_148374.1:n.3343_3348del, NR_148374.1:n.3344_3348del, NR_148374.1:n.3345_3348del, NR_148374.1:n.3346_3348del, NR_148374.1:n.3347_3348del, NR_148374.1:n.3348del, NR_148374.1:n.3348dup, NR_148374.1:n.3347_3348dup, NR_148374.1:n.3346_3348dup, NR_148374.1:n.3345_3348dup, NR_148374.1:n.3344_3348dup, NR_148374.1:n.3342_3348dup, NR_148374.1:n.3319_3338A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148373.1:n.3336_3346del, NR_148373.1:n.3337_3346del, NR_148373.1:n.3340_3346del, NR_148373.1:n.3341_3346del, NR_148373.1:n.3342_3346del, NR_148373.1:n.3343_3346del, NR_148373.1:n.3344_3346del, NR_148373.1:n.3345_3346del, NR_148373.1:n.3346del, NR_148373.1:n.3346dup, NR_148373.1:n.3345_3346dup, NR_148373.1:n.3344_3346dup, NR_148373.1:n.3343_3346dup, NR_148373.1:n.3342_3346dup, NR_148373.1:n.3340_3346dup, NR_148373.1:n.3317_3336A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], XM_047448017.1:c.*209_*219del, XM_047448017.1:c.*210_*219del, XM_047448017.1:c.*213_*219del, XM_047448017.1:c.*214_*219del, XM_047448017.1:c.*215_*219del, XM_047448017.1:c.*216_*219del, XM_047448017.1:c.*217_*219del, XM_047448017.1:c.*218_*219del, XM_047448017.1:c.*219del, XM_047448017.1:c.*219dup, XM_047448017.1:c.*218_*219dup, XM_047448017.1:c.*217_*219dup, XM_047448017.1:c.*216_*219dup, XM_047448017.1:c.*215_*219dup, XM_047448017.1:c.*213_*219dup, XM_047448017.1:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001353160.1:c.*220_*230del, NM_001353160.1:c.*221_*230del, NM_001353160.1:c.*224_*230del, NM_001353160.1:c.*225_*230del, NM_001353160.1:c.*226_*230del, NM_001353160.1:c.*227_*230del, NM_001353160.1:c.*228_*230del, NM_001353160.1:c.*229_*230del, NM_001353160.1:c.*230del, NM_001353160.1:c.*230dup, NM_001353160.1:c.*229_*230dup, NM_001353160.1:c.*228_*230dup, NM_001353160.1:c.*227_*230dup, NM_001353160.1:c.*226_*230dup, NM_001353160.1:c.*224_*230dup, NM_001353160.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148372.1:n.3321_3331del, NR_148372.1:n.3322_3331del, NR_148372.1:n.3325_3331del, NR_148372.1:n.3326_3331del, NR_148372.1:n.3327_3331del, NR_148372.1:n.3328_3331del, NR_148372.1:n.3329_3331del, NR_148372.1:n.3330_3331del, NR_148372.1:n.3331del, NR_148372.1:n.3331dup, NR_148372.1:n.3330_3331dup, NR_148372.1:n.3329_3331dup, NR_148372.1:n.3328_3331dup, NR_148372.1:n.3327_3331dup, NR_148372.1:n.3325_3331dup, NR_148372.1:n.3302_3321A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], XM_047448018.1:c.*209_*219del, XM_047448018.1:c.*210_*219del, XM_047448018.1:c.*213_*219del, XM_047448018.1:c.*214_*219del, XM_047448018.1:c.*215_*219del, XM_047448018.1:c.*216_*219del, XM_047448018.1:c.*217_*219del, XM_047448018.1:c.*218_*219del, XM_047448018.1:c.*219del, XM_047448018.1:c.*219dup, XM_047448018.1:c.*218_*219dup, XM_047448018.1:c.*217_*219dup, XM_047448018.1:c.*216_*219dup, XM_047448018.1:c.*215_*219dup, XM_047448018.1:c.*213_*219dup, XM_047448018.1:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001353152.1:c.*220_*230del, NM_001353152.1:c.*221_*230del, NM_001353152.1:c.*224_*230del, NM_001353152.1:c.*225_*230del, NM_001353152.1:c.*226_*230del, NM_001353152.1:c.*227_*230del, NM_001353152.1:c.*228_*230del, NM_001353152.1:c.*229_*230del, NM_001353152.1:c.*230del, NM_001353152.1:c.*230dup, NM_001353152.1:c.*229_*230dup, NM_001353152.1:c.*228_*230dup, NM_001353152.1:c.*227_*230dup, NM_001353152.1:c.*226_*230dup, NM_001353152.1:c.*224_*230dup, NM_001353152.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148367.1:n.3269_3279del, NR_148367.1:n.3270_3279del, NR_148367.1:n.3273_3279del, NR_148367.1:n.3274_3279del, NR_148367.1:n.3275_3279del, NR_148367.1:n.3276_3279del, NR_148367.1:n.3277_3279del, NR_148367.1:n.3278_3279del, NR_148367.1:n.3279del, NR_148367.1:n.3279dup, NR_148367.1:n.3278_3279dup, NR_148367.1:n.3277_3279dup, NR_148367.1:n.3276_3279dup, NR_148367.1:n.3275_3279dup, NR_148367.1:n.3273_3279dup, NR_148367.1:n.3250_3269A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148366.1:n.3265_3275del, NR_148366.1:n.3266_3275del, NR_148366.1:n.3269_3275del, NR_148366.1:n.3270_3275del, NR_148366.1:n.3271_3275del, NR_148366.1:n.3272_3275del, NR_148366.1:n.3273_3275del, NR_148366.1:n.3274_3275del, NR_148366.1:n.3275del, NR_148366.1:n.3275dup, NR_148366.1:n.3274_3275dup, NR_148366.1:n.3273_3275dup, NR_148366.1:n.3272_3275dup, NR_148366.1:n.3271_3275dup, NR_148366.1:n.3269_3275dup, NR_148366.1:n.3246_3265A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353156.1:c.*220_*230del, NM_001353156.1:c.*221_*230del, NM_001353156.1:c.*224_*230del, NM_001353156.1:c.*225_*230del, NM_001353156.1:c.*226_*230del, NM_001353156.1:c.*227_*230del, NM_001353156.1:c.*228_*230del, NM_001353156.1:c.*229_*230del, NM_001353156.1:c.*230del, NM_001353156.1:c.*230dup, NM_001353156.1:c.*229_*230dup, NM_001353156.1:c.*228_*230dup, NM_001353156.1:c.*227_*230dup, NM_001353156.1:c.*226_*230dup, NM_001353156.1:c.*224_*230dup, NM_001353156.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148376.1:n.3218_3228del, NR_148376.1:n.3219_3228del, NR_148376.1:n.3222_3228del, NR_148376.1:n.3223_3228del, NR_148376.1:n.3224_3228del, NR_148376.1:n.3225_3228del, NR_148376.1:n.3226_3228del, NR_148376.1:n.3227_3228del, NR_148376.1:n.3228del, NR_148376.1:n.3228dup, NR_148376.1:n.3227_3228dup, NR_148376.1:n.3226_3228dup, NR_148376.1:n.3225_3228dup, NR_148376.1:n.3224_3228dup, NR_148376.1:n.3222_3228dup, NR_148376.1:n.3199_3218A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353158.1:c.*220_*230del, NM_001353158.1:c.*221_*230del, NM_001353158.1:c.*224_*230del, NM_001353158.1:c.*225_*230del, NM_001353158.1:c.*226_*230del, NM_001353158.1:c.*227_*230del, NM_001353158.1:c.*228_*230del, NM_001353158.1:c.*229_*230del, NM_001353158.1:c.*230del, NM_001353158.1:c.*230dup, NM_001353158.1:c.*229_*230dup, NM_001353158.1:c.*228_*230dup, NM_001353158.1:c.*227_*230dup, NM_001353158.1:c.*226_*230dup, NM_001353158.1:c.*224_*230dup, NM_001353158.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148375.1:n.3205_3215del, NR_148375.1:n.3206_3215del, NR_148375.1:n.3209_3215del, NR_148375.1:n.3210_3215del, NR_148375.1:n.3211_3215del, NR_148375.1:n.3212_3215del, NR_148375.1:n.3213_3215del, NR_148375.1:n.3214_3215del, NR_148375.1:n.3215del, NR_148375.1:n.3215dup, NR_148375.1:n.3214_3215dup, NR_148375.1:n.3213_3215dup, NR_148375.1:n.3212_3215dup, NR_148375.1:n.3211_3215dup, NR_148375.1:n.3209_3215dup, NR_148375.1:n.3186_3205A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148368.1:n.3186_3196del, NR_148368.1:n.3187_3196del, NR_148368.1:n.3190_3196del, NR_148368.1:n.3191_3196del, NR_148368.1:n.3192_3196del, NR_148368.1:n.3193_3196del, NR_148368.1:n.3194_3196del, NR_148368.1:n.3195_3196del, NR_148368.1:n.3196del, NR_148368.1:n.3196dup, NR_148368.1:n.3195_3196dup, NR_148368.1:n.3194_3196dup, NR_148368.1:n.3193_3196dup, NR_148368.1:n.3192_3196dup, NR_148368.1:n.3190_3196dup, NR_148368.1:n.3167_3186A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353147.1:c.*220_*230del, NM_001353147.1:c.*221_*230del, NM_001353147.1:c.*224_*230del, NM_001353147.1:c.*225_*230del, NM_001353147.1:c.*226_*230del, NM_001353147.1:c.*227_*230del, NM_001353147.1:c.*228_*230del, NM_001353147.1:c.*229_*230del, NM_001353147.1:c.*230del, NM_001353147.1:c.*230dup, NM_001353147.1:c.*229_*230dup, NM_001353147.1:c.*228_*230dup, NM_001353147.1:c.*227_*230dup, NM_001353147.1:c.*226_*230dup, NM_001353147.1:c.*224_*230dup, NM_001353147.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148377.1:n.3167_3177del, NR_148377.1:n.3168_3177del, NR_148377.1:n.3171_3177del, NR_148377.1:n.3172_3177del, NR_148377.1:n.3173_3177del, NR_148377.1:n.3174_3177del, NR_148377.1:n.3175_3177del, NR_148377.1:n.3176_3177del, NR_148377.1:n.3177del, NR_148377.1:n.3177dup, NR_148377.1:n.3176_3177dup, NR_148377.1:n.3175_3177dup, NR_148377.1:n.3174_3177dup, NR_148377.1:n.3173_3177dup, NR_148377.1:n.3171_3177dup, NR_148377.1:n.3148_3167A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353153.1:c.*220_*230del, NM_001353153.1:c.*221_*230del, NM_001353153.1:c.*224_*230del, NM_001353153.1:c.*225_*230del, NM_001353153.1:c.*226_*230del, NM_001353153.1:c.*227_*230del, NM_001353153.1:c.*228_*230del, NM_001353153.1:c.*229_*230del, NM_001353153.1:c.*230del, NM_001353153.1:c.*230dup, NM_001353153.1:c.*229_*230dup, NM_001353153.1:c.*228_*230dup, NM_001353153.1:c.*227_*230dup, NM_001353153.1:c.*226_*230dup, NM_001353153.1:c.*224_*230dup, NM_001353153.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148370.1:n.3139_3149del, NR_148370.1:n.3140_3149del, NR_148370.1:n.3143_3149del, NR_148370.1:n.3144_3149del, NR_148370.1:n.3145_3149del, NR_148370.1:n.3146_3149del, NR_148370.1:n.3147_3149del, NR_148370.1:n.3148_3149del, NR_148370.1:n.3149del, NR_148370.1:n.3149dup, NR_148370.1:n.3148_3149dup, NR_148370.1:n.3147_3149dup, NR_148370.1:n.3146_3149dup, NR_148370.1:n.3145_3149dup, NR_148370.1:n.3143_3149dup, NR_148370.1:n.3120_3139A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148369.1:n.3137_3147del, NR_148369.1:n.3138_3147del, NR_148369.1:n.3141_3147del, NR_148369.1:n.3142_3147del, NR_148369.1:n.3143_3147del, NR_148369.1:n.3144_3147del, NR_148369.1:n.3145_3147del, NR_148369.1:n.3146_3147del, NR_148369.1:n.3147del, NR_148369.1:n.3147dup, NR_148369.1:n.3146_3147dup, NR_148369.1:n.3145_3147dup, NR_148369.1:n.3144_3147dup, NR_148369.1:n.3143_3147dup, NR_148369.1:n.3141_3147dup, NR_148369.1:n.3118_3137A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353148.1:c.*220_*230del, NM_001353148.1:c.*221_*230del, NM_001353148.1:c.*224_*230del, NM_001353148.1:c.*225_*230del, NM_001353148.1:c.*226_*230del, NM_001353148.1:c.*227_*230del, NM_001353148.1:c.*228_*230del, NM_001353148.1:c.*229_*230del, NM_001353148.1:c.*230del, NM_001353148.1:c.*230dup, NM_001353148.1:c.*229_*230dup, NM_001353148.1:c.*228_*230dup, NM_001353148.1:c.*227_*230dup, NM_001353148.1:c.*226_*230dup, NM_001353148.1:c.*224_*230dup, NM_001353148.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353149.1:c.*220_*230del, NM_001353149.1:c.*221_*230del, NM_001353149.1:c.*224_*230del, NM_001353149.1:c.*225_*230del, NM_001353149.1:c.*226_*230del, NM_001353149.1:c.*227_*230del, NM_001353149.1:c.*228_*230del, NM_001353149.1:c.*229_*230del, NM_001353149.1:c.*230del, NM_001353149.1:c.*230dup, NM_001353149.1:c.*229_*230dup, NM_001353149.1:c.*228_*230dup, NM_001353149.1:c.*227_*230dup, NM_001353149.1:c.*226_*230dup, NM_001353149.1:c.*224_*230dup, NM_001353149.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353151.1:c.*220_*230del, NM_001353151.1:c.*221_*230del, NM_001353151.1:c.*224_*230del, NM_001353151.1:c.*225_*230del, NM_001353151.1:c.*226_*230del, NM_001353151.1:c.*227_*230del, NM_001353151.1:c.*228_*230del, NM_001353151.1:c.*229_*230del, NM_001353151.1:c.*230del, NM_001353151.1:c.*230dup, NM_001353151.1:c.*229_*230dup, NM_001353151.1:c.*228_*230dup, NM_001353151.1:c.*227_*230dup, NM_001353151.1:c.*226_*230dup, NM_001353151.1:c.*224_*230dup, NM_001353151.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353150.1:c.*220_*230del, NM_001353150.1:c.*221_*230del, NM_001353150.1:c.*224_*230del, NM_001353150.1:c.*225_*230del, NM_001353150.1:c.*226_*230del, NM_001353150.1:c.*227_*230del, NM_001353150.1:c.*228_*230del, NM_001353150.1:c.*229_*230del, NM_001353150.1:c.*230del, NM_001353150.1:c.*230dup, NM_001353150.1:c.*229_*230dup, NM_001353150.1:c.*228_*230dup, NM_001353150.1:c.*227_*230dup, NM_001353150.1:c.*226_*230dup, NM_001353150.1:c.*224_*230dup, NM_001353150.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NR_148378.1:n.3036_3046del, NR_148378.1:n.3037_3046del, NR_148378.1:n.3040_3046del, NR_148378.1:n.3041_3046del, NR_148378.1:n.3042_3046del, NR_148378.1:n.3043_3046del, NR_148378.1:n.3044_3046del, NR_148378.1:n.3045_3046del, NR_148378.1:n.3046del, NR_148378.1:n.3046dup, NR_148378.1:n.3045_3046dup, NR_148378.1:n.3044_3046dup, NR_148378.1:n.3043_3046dup, NR_148378.1:n.3042_3046dup, NR_148378.1:n.3040_3046dup, NR_148378.1:n.3017_3036A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], NM_001353154.1:c.*220_*230del, NM_001353154.1:c.*221_*230del, NM_001353154.1:c.*224_*230del, NM_001353154.1:c.*225_*230del, NM_001353154.1:c.*226_*230del, NM_001353154.1:c.*227_*230del, NM_001353154.1:c.*228_*230del, NM_001353154.1:c.*229_*230del, NM_001353154.1:c.*230del, NM_001353154.1:c.*230dup, NM_001353154.1:c.*229_*230dup, NM_001353154.1:c.*228_*230dup, NM_001353154.1:c.*227_*230dup, NM_001353154.1:c.*226_*230dup, NM_001353154.1:c.*224_*230dup, NM_001353154.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], XM_047448019.1:c.*209_*219del, XM_047448019.1:c.*210_*219del, XM_047448019.1:c.*213_*219del, XM_047448019.1:c.*214_*219del, XM_047448019.1:c.*215_*219del, XM_047448019.1:c.*216_*219del, XM_047448019.1:c.*217_*219del, XM_047448019.1:c.*218_*219del, XM_047448019.1:c.*219del, XM_047448019.1:c.*219dup, XM_047448019.1:c.*218_*219dup, XM_047448019.1:c.*217_*219dup, XM_047448019.1:c.*216_*219dup, XM_047448019.1:c.*215_*219dup, XM_047448019.1:c.*213_*219dup, XM_047448019.1:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1], NM_001353155.1:c.*220_*230del, NM_001353155.1:c.*221_*230del, NM_001353155.1:c.*224_*230del, NM_001353155.1:c.*225_*230del, NM_001353155.1:c.*226_*230del, NM_001353155.1:c.*227_*230del, NM_001353155.1:c.*228_*230del, NM_001353155.1:c.*229_*230del, NM_001353155.1:c.*230del, NM_001353155.1:c.*230dup, NM_001353155.1:c.*229_*230dup, NM_001353155.1:c.*228_*230dup, NM_001353155.1:c.*227_*230dup, NM_001353155.1:c.*226_*230dup, NM_001353155.1:c.*224_*230dup, NM_001353155.1:c.*201_*220A[20]CCGAAAAAAAAAAAAAAAAAAAAA[1], XM_047448020.1:c.*209_*219del, XM_047448020.1:c.*210_*219del, XM_047448020.1:c.*213_*219del, XM_047448020.1:c.*214_*219del, XM_047448020.1:c.*215_*219del, XM_047448020.1:c.*216_*219del, XM_047448020.1:c.*217_*219del, XM_047448020.1:c.*218_*219del, XM_047448020.1:c.*219del, XM_047448020.1:c.*219dup, XM_047448020.1:c.*218_*219dup, XM_047448020.1:c.*217_*219dup, XM_047448020.1:c.*216_*219dup, XM_047448020.1:c.*215_*219dup, XM_047448020.1:c.*213_*219dup, XM_047448020.1:c.*201_*219A[20]CCGAAAAAAAAAAAAAAAAAAAA[1]

      3.

      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

        4.

        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

          5.

          rs1488672954 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            3:56621630 (GRCh38)
            3:56655658 (GRCh37)
            Canonical SPDI:
            NC_000003.12:56621629:C:A,NC_000003.12:56621629:C:T
            Gene:
            TASOR (Varview), CCDC66 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000003.12:g.56621630C>A, NC_000003.12:g.56621630C>T, NC_000003.11:g.56655658C>A, NC_000003.11:g.56655658C>T, XM_005265082.5:c.*12C>A, XM_005265082.5:c.*12C>T, XM_005265082.4:c.*12C>A, XM_005265082.4:c.*12C>T, XM_005265082.3:c.*12C>A, XM_005265082.3:c.*12C>T, XM_005265082.2:c.*12C>A, XM_005265082.2:c.*12C>T, XM_005265082.1:c.*12C>A, XM_005265082.1:c.*12C>T, NM_001012506.5:c.*12C>A, NM_001012506.5:c.*12C>T, NM_001012506.4:c.*12C>A, NM_001012506.4:c.*12C>T, XM_005265083.5:c.*12C>A, XM_005265083.5:c.*12C>T, XM_005265083.4:c.*12C>A, XM_005265083.4:c.*12C>T, XM_005265083.3:c.*12C>A, XM_005265083.3:c.*12C>T, XM_005265083.2:c.*12C>A, XM_005265083.2:c.*12C>T, XM_005265083.1:c.*12C>A, XM_005265083.1:c.*12C>T, XM_011533616.4:c.*12C>A, XM_011533616.4:c.*12C>T, XM_011533616.3:c.*12C>A, XM_011533616.3:c.*12C>T, XM_011533616.2:c.*12C>A, XM_011533616.2:c.*12C>T, XM_011533616.1:c.*12C>A, XM_011533616.1:c.*12C>T, NM_015224.3:c.*1407G>T, NM_015224.3:c.*1407G>A, XM_011533615.3:c.*12C>A, XM_011533615.3:c.*12C>T, XM_011533615.2:c.*12C>A, XM_011533615.2:c.*12C>T, XM_011533615.1:c.*12C>A, XM_011533615.1:c.*12C>T, NM_001141947.3:c.*12C>A, NM_001141947.3:c.*12C>T, NM_001141947.2:c.*12C>A, NM_001141947.2:c.*12C>T, NM_001141947.1:c.*12C>A, NM_001141947.1:c.*12C>T, NM_001112736.2:c.*2158G>T, NM_001112736.2:c.*2158G>A, NM_001112736.1:c.*2158G>T, NM_001112736.1:c.*2158G>A, NM_001365637.2:c.*2158G>T, NM_001365637.2:c.*2158G>A, NM_001365637.1:c.*2158G>T, NM_001365637.1:c.*2158G>A, NM_001365638.2:c.*2158G>T, NM_001365638.2:c.*2158G>A, NM_001365638.1:c.*2158G>T, NM_001365638.1:c.*2158G>A, NM_001365635.2:c.*1407G>T, NM_001365635.2:c.*1407G>A, NM_001365635.1:c.*1407G>T, NM_001365635.1:c.*1407G>A, NM_001365636.2:c.*1407G>T, NM_001365636.2:c.*1407G>A, NM_001365636.1:c.*1407G>T, NM_001365636.1:c.*1407G>A, XM_024453462.2:c.*12C>A, XM_024453462.2:c.*12C>T, XM_024453462.1:c.*12C>A, XM_024453462.1:c.*12C>T, NR_024460.2:n.2927C>A, NR_024460.2:n.2927C>T, NR_024460.1:n.2927C>A, NR_024460.1:n.2927C>T, XM_024453464.2:c.*12C>A, XM_024453464.2:c.*12C>T, XM_024453464.1:c.*12C>A, XM_024453464.1:c.*12C>T, XM_017006239.2:c.*12C>A, XM_017006239.2:c.*12C>T, XM_017006239.1:c.*12C>A, XM_017006239.1:c.*12C>T, NM_001363940.1:c.*1407G>T, NM_001363940.1:c.*1407G>A, XM_047447814.1:c.*1407G>T, XM_047447814.1:c.*1407G>A, XM_047447815.1:c.*1407G>T, XM_047447815.1:c.*1407G>A, NR_148371.1:n.3140C>A, NR_148371.1:n.3140C>T, NR_148374.1:n.3130C>A, NR_148374.1:n.3130C>T, NR_148373.1:n.3128C>A, NR_148373.1:n.3128C>T, XM_047448017.1:c.*12C>A, XM_047448017.1:c.*12C>T, NM_001353160.1:c.*12C>A, NM_001353160.1:c.*12C>T, NR_148372.1:n.3113C>A, NR_148372.1:n.3113C>T, XM_047448018.1:c.*12C>A, XM_047448018.1:c.*12C>T, NM_001353152.1:c.*12C>A, NM_001353152.1:c.*12C>T, NR_148367.1:n.3061C>A, NR_148367.1:n.3061C>T, NR_148366.1:n.3057C>A, NR_148366.1:n.3057C>T, NM_001353156.1:c.*12C>A, NM_001353156.1:c.*12C>T, NR_148376.1:n.3010C>A, NR_148376.1:n.3010C>T, NM_001353158.1:c.*12C>A, NM_001353158.1:c.*12C>T, NR_148375.1:n.2997C>A, NR_148375.1:n.2997C>T, NR_148368.1:n.2978C>A, NR_148368.1:n.2978C>T, NM_001353147.1:c.*12C>A, NM_001353147.1:c.*12C>T, NR_148377.1:n.2959C>A, NR_148377.1:n.2959C>T, NM_001353153.1:c.*12C>A, NM_001353153.1:c.*12C>T, NR_148370.1:n.2931C>A, NR_148370.1:n.2931C>T, NR_148369.1:n.2929C>A, NR_148369.1:n.2929C>T, NM_001353148.1:c.*12C>A, NM_001353148.1:c.*12C>T, NM_001139489.1:c.*12C>A, NM_001139489.1:c.*12C>T, NM_001353149.1:c.*12C>A, NM_001353149.1:c.*12C>T, NM_001353151.1:c.*12C>A, NM_001353151.1:c.*12C>T, NM_001353150.1:c.*12C>A, NM_001353150.1:c.*12C>T, NR_148378.1:n.2828C>A, NR_148378.1:n.2828C>T, NM_001353154.1:c.*12C>A, NM_001353154.1:c.*12C>T, XM_047448019.1:c.*12C>A, XM_047448019.1:c.*12C>T, NM_001353155.1:c.*12C>A, NM_001353155.1:c.*12C>T, XM_047448020.1:c.*12C>A, XM_047448020.1:c.*12C>T

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      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

                        12.

                        rs1482273081 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:56621681 (GRCh38)
                          3:56655709 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:56621680:G:A
                          Gene:
                          TASOR (Varview), CCDC66 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000003.12:g.56621681G>A, NC_000003.11:g.56655709G>A, XM_005265082.5:c.*63G>A, XM_005265082.4:c.*63G>A, XM_005265082.3:c.*63G>A, XM_005265082.2:c.*63G>A, XM_005265082.1:c.*63G>A, NM_001012506.5:c.*63G>A, NM_001012506.4:c.*63G>A, XM_005265083.5:c.*63G>A, XM_005265083.4:c.*63G>A, XM_005265083.3:c.*63G>A, XM_005265083.2:c.*63G>A, XM_005265083.1:c.*63G>A, XM_011533616.4:c.*63G>A, XM_011533616.3:c.*63G>A, XM_011533616.2:c.*63G>A, XM_011533616.1:c.*63G>A, NM_015224.3:c.*1356C>T, XM_011533615.3:c.*63G>A, XM_011533615.2:c.*63G>A, XM_011533615.1:c.*63G>A, NM_001141947.3:c.*63G>A, NM_001141947.2:c.*63G>A, NM_001141947.1:c.*63G>A, NM_001112736.2:c.*2107C>T, NM_001112736.1:c.*2107C>T, NM_001365637.2:c.*2107C>T, NM_001365637.1:c.*2107C>T, NM_001365638.2:c.*2107C>T, NM_001365638.1:c.*2107C>T, NM_001365635.2:c.*1356C>T, NM_001365635.1:c.*1356C>T, NM_001365636.2:c.*1356C>T, NM_001365636.1:c.*1356C>T, XM_024453462.2:c.*63G>A, XM_024453462.1:c.*63G>A, NR_024460.2:n.2978G>A, NR_024460.1:n.2978G>A, XM_024453464.2:c.*63G>A, XM_024453464.1:c.*63G>A, XM_017006239.2:c.*63G>A, XM_017006239.1:c.*63G>A, NM_001363940.1:c.*1356C>T, XM_047447814.1:c.*1356C>T, XM_047447815.1:c.*1356C>T, NR_148371.1:n.3191G>A, NR_148374.1:n.3181G>A, NR_148373.1:n.3179G>A, XM_047448017.1:c.*63G>A, NM_001353160.1:c.*63G>A, NR_148372.1:n.3164G>A, XM_047448018.1:c.*63G>A, NM_001353152.1:c.*63G>A, NR_148367.1:n.3112G>A, NR_148366.1:n.3108G>A, NM_001353156.1:c.*63G>A, NR_148376.1:n.3061G>A, NM_001353158.1:c.*63G>A, NR_148375.1:n.3048G>A, NR_148368.1:n.3029G>A, NM_001353147.1:c.*63G>A, NR_148377.1:n.3010G>A, NM_001353153.1:c.*63G>A, NR_148370.1:n.2982G>A, NR_148369.1:n.2980G>A, NM_001353148.1:c.*63G>A, NM_001139489.1:c.*63G>A, NM_001353149.1:c.*63G>A, NM_001353151.1:c.*63G>A, NM_001353150.1:c.*63G>A, NR_148378.1:n.2879G>A, NM_001353154.1:c.*63G>A, XM_047448019.1:c.*63G>A, NM_001353155.1:c.*63G>A, XM_047448020.1:c.*63G>A

                          13.

                          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

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  rs1479251789 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CTTA [Show Flanks]
                                    Chromosome:
                                    3:56621711 (GRCh38)
                                    3:56655740 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:56621711:TTACTTA:TTACTTACTTA
                                    Gene:
                                    TASOR (Varview), CCDC66 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TTACTTACTTA=0.000071/1 (ALFA)
                                    TTAC=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.56621715_56621718dup, NC_000003.11:g.56655743_56655746dup, XM_005265082.5:c.*97_*100dup, XM_005265082.4:c.*97_*100dup, XM_005265082.3:c.*97_*100dup, XM_005265082.2:c.*97_*100dup, XM_005265082.1:c.*97_*100dup, NM_001012506.5:c.*97_*100dup, NM_001012506.4:c.*97_*100dup, XM_005265083.5:c.*97_*100dup, XM_005265083.4:c.*97_*100dup, XM_005265083.3:c.*97_*100dup, XM_005265083.2:c.*97_*100dup, XM_005265083.1:c.*97_*100dup, XM_011533616.4:c.*97_*100dup, XM_011533616.3:c.*97_*100dup, XM_011533616.2:c.*97_*100dup, XM_011533616.1:c.*97_*100dup, NM_015224.3:c.*1322_*1325dup, XM_011533615.3:c.*97_*100dup, XM_011533615.2:c.*97_*100dup, XM_011533615.1:c.*97_*100dup, NM_001141947.3:c.*97_*100dup, NM_001141947.2:c.*97_*100dup, NM_001141947.1:c.*97_*100dup, NM_001112736.2:c.*2073_*2076dup, NM_001112736.1:c.*2073_*2076dup, NM_001365637.2:c.*2073_*2076dup, NM_001365637.1:c.*2073_*2076dup, NM_001365638.2:c.*2073_*2076dup, NM_001365638.1:c.*2073_*2076dup, NM_001365635.2:c.*1322_*1325dup, NM_001365635.1:c.*1322_*1325dup, NM_001365636.2:c.*1322_*1325dup, NM_001365636.1:c.*1322_*1325dup, XM_024453462.2:c.*97_*100dup, XM_024453462.1:c.*97_*100dup, NR_024460.2:n.3012_3015dup, NR_024460.1:n.3012_3015dup, XM_024453464.2:c.*97_*100dup, XM_024453464.1:c.*97_*100dup, XM_017006239.2:c.*97_*100dup, XM_017006239.1:c.*97_*100dup, NM_001363940.1:c.*1322_*1325dup, XM_047447814.1:c.*1322_*1325dup, XM_047447815.1:c.*1322_*1325dup, NR_148371.1:n.3225_3228dup, NR_148374.1:n.3215_3218dup, NR_148373.1:n.3213_3216dup, XM_047448017.1:c.*97_*100dup, NM_001353160.1:c.*97_*100dup, NR_148372.1:n.3198_3201dup, XM_047448018.1:c.*97_*100dup, NM_001353152.1:c.*97_*100dup, NR_148367.1:n.3146_3149dup, NR_148366.1:n.3142_3145dup, NM_001353156.1:c.*97_*100dup, NR_148376.1:n.3095_3098dup, NM_001353158.1:c.*97_*100dup, NR_148375.1:n.3082_3085dup, NR_148368.1:n.3063_3066dup, NM_001353147.1:c.*97_*100dup, NR_148377.1:n.3044_3047dup, NM_001353153.1:c.*97_*100dup, NR_148370.1:n.3016_3019dup, NR_148369.1:n.3014_3017dup, NM_001353148.1:c.*97_*100dup, NM_001139489.1:c.*97_*100dup, NM_001353149.1:c.*97_*100dup, NM_001353151.1:c.*97_*100dup, NM_001353150.1:c.*97_*100dup, NR_148378.1:n.2913_2916dup, NM_001353154.1:c.*97_*100dup, XM_047448019.1:c.*97_*100dup, NM_001353155.1:c.*97_*100dup, XM_047448020.1:c.*97_*100dup

                                    18.

                                    rs1479235339 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:56566757 (GRCh38)
                                      3:56600785 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:56566756:C:T
                                      Gene:
                                      CCDC66 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000132/4 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.56566757C>T, NC_000003.11:g.56600785C>T, NM_001012506.5:c.606C>T, NM_001012506.4:c.606C>T, XM_005265083.5:c.708C>T, XM_005265083.4:c.708C>T, XM_005265083.3:c.708C>T, XM_005265083.2:c.708C>T, XM_005265083.1:c.708C>T, XM_011533616.4:c.606C>T, XM_011533616.3:c.606C>T, XM_011533616.2:c.606C>T, XM_011533616.1:c.606C>T, XM_011533615.3:c.609C>T, XM_011533615.2:c.609C>T, XM_011533615.1:c.609C>T, NM_001141947.3:c.708C>T, NM_001141947.2:c.708C>T, NM_001141947.1:c.708C>T, XM_024453462.2:c.606C>T, XM_024453462.1:c.606C>T, XM_024453464.2:c.108C>T, XM_024453464.1:c.108C>T, NR_148371.1:n.795C>T, XM_047448017.1:c.606C>T, NM_001353152.1:c.606C>T, NR_148367.1:n.795C>T, NR_148366.1:n.795C>T, NM_001353156.1:c.-282C>T, NM_001353158.1:c.-380C>T, NR_148368.1:n.795C>T, NM_001353147.1:c.708C>T, NM_001353153.1:c.606C>T, NR_148370.1:n.776C>T, NM_001353148.1:c.708C>T, NM_001139489.1:c.606C>T, NM_001353151.1:c.609C>T, NM_001353150.1:c.708C>T, NR_148378.1:n.795C>T, NM_001353154.1:c.708C>T, XM_047448021.1:c.708C>T

                                      19.

                                      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

                                        20.

                                        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

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