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Items: 1 to 20 of 914

1.

rs1490745430 has merged into rs770654400 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTC>-,TTCTTC [Show Flanks]
    Chromosome:
    10:73341429 (GRCh38)
    10:75101187 (GRCh37)
    Canonical SPDI:
    NC_000010.11:73341418:CTTCTTCTTCTTC:CTTCTTCTTC,NC_000010.11:73341418:CTTCTTCTTCTTC:CTTCTTCTTCTTCTTC
    Gene:
    CFAP70 (Varview)
    Functional Consequence:
    inframe_deletion,inframe_insertion,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTTCTTCTTCTTCTTC=0.000224/1 (ALFA)
    -=0.000004/1 (GnomAD_exomes)
    CTT=0.000007/1 (GnomAD)
    -=0.000008/1 (ExAC)
    -=0.000142/2 (TOMMO)
    CTT=0.000223/1 (Estonian)
    HGVS:
    NC_000010.11:g.73341420TTC[3], NC_000010.11:g.73341420TTC[5], NC_000010.10:g.75101178TTC[3], NC_000010.10:g.75101178TTC[5], XM_006717611.5:c.185AAG[3], XM_006717611.5:c.185AAG[5], XM_006717611.4:c.185AAG[3], XM_006717611.4:c.185AAG[5], XM_006717611.3:c.185AAG[3], XM_006717611.3:c.185AAG[5], XM_006717611.2:c.185AAG[3], XM_006717611.2:c.185AAG[5], XM_006717611.1:c.185AAG[3], XM_006717611.1:c.185AAG[5], XM_006717604.3:c.761AAG[3], XM_006717604.3:c.761AAG[5], XM_006717604.2:c.761AAG[3], XM_006717604.2:c.761AAG[5], XM_006717604.1:c.761AAG[3], XM_006717604.1:c.761AAG[5], XM_006717610.3:c.185AAG[3], XM_006717610.3:c.185AAG[5], XM_006717610.2:c.185AAG[3], XM_006717610.2:c.185AAG[5], XM_006717610.1:c.185AAG[3], XM_006717610.1:c.185AAG[5], NM_145170.3:c.761AAG[3], NM_145170.3:c.761AAG[5], XM_006717605.3:c.761AAG[3], XM_006717605.3:c.761AAG[5], XM_006717605.2:c.761AAG[3], XM_006717605.2:c.761AAG[5], XM_006717605.1:c.761AAG[3], XM_006717605.1:c.761AAG[5], XM_011539212.3:c.185AAG[3], XM_011539212.3:c.185AAG[5], XM_011539212.2:c.185AAG[3], XM_011539212.2:c.185AAG[5], XM_011539212.1:c.185AAG[3], XM_011539212.1:c.185AAG[5], XM_017015620.2:c.827AAG[3], XM_017015620.2:c.827AAG[5], XM_017015620.1:c.827AAG[3], XM_017015620.1:c.827AAG[5], XM_017015622.2:c.827AAG[3], XM_017015622.2:c.827AAG[5], XM_017015622.1:c.827AAG[3], XM_017015622.1:c.827AAG[5], XM_017015621.2:c.824AAG[3], XM_017015621.2:c.824AAG[5], XM_017015621.1:c.824AAG[3], XM_017015621.1:c.824AAG[5], XM_017015623.2:c.827AAG[3], XM_017015623.2:c.827AAG[5], XM_017015623.1:c.827AAG[3], XM_017015623.1:c.827AAG[5], XM_017015624.2:c.827AAG[3], XM_017015624.2:c.827AAG[5], XM_017015624.1:c.827AAG[3], XM_017015624.1:c.827AAG[5], XM_017015625.2:c.827AAG[3], XM_017015625.2:c.827AAG[5], XM_017015625.1:c.827AAG[3], XM_017015625.1:c.827AAG[5], XM_017015626.2:c.827AAG[3], XM_017015626.2:c.827AAG[5], XM_017015626.1:c.827AAG[3], XM_017015626.1:c.827AAG[5], XM_017015627.2:c.617AAG[3], XM_017015627.2:c.617AAG[5], XM_017015627.1:c.617AAG[3], XM_017015627.1:c.617AAG[5], XM_017015629.2:c.827AAG[3], XM_017015629.2:c.827AAG[5], XM_017015629.1:c.827AAG[3], XM_017015629.1:c.827AAG[5], NM_001350934.2:c.185AAG[3], NM_001350934.2:c.185AAG[5], NM_001350934.1:c.185AAG[3], NM_001350934.1:c.185AAG[5], NM_001350933.2:c.551AAG[3], NM_001350933.2:c.551AAG[5], NM_001350933.1:c.551AAG[3], NM_001350933.1:c.551AAG[5], XM_047424551.1:c.827AAG[3], XM_047424551.1:c.827AAG[5], XM_047424553.1:c.827AAG[3], XM_047424553.1:c.827AAG[5], XM_047424554.1:c.827AAG[3], XM_047424554.1:c.827AAG[5], XM_047424555.1:c.827AAG[3], XM_047424555.1:c.827AAG[5], XM_047424552.1:c.761AAG[3], XM_047424552.1:c.761AAG[5], NM_001367801.1:c.761AAG[3], NM_001367801.1:c.761AAG[5], XP_006717674.1:p.Glu65del, XP_006717674.1:p.Glu65dup, XP_006717667.1:p.Glu257del, XP_006717667.1:p.Glu257dup, XP_006717673.1:p.Glu65del, XP_006717673.1:p.Glu65dup, XP_006717668.1:p.Glu257del, XP_006717668.1:p.Glu257dup, XP_011537514.1:p.Glu65del, XP_011537514.1:p.Glu65dup, XP_016871109.1:p.Glu279del, XP_016871109.1:p.Glu279dup, XP_016871111.1:p.Glu279del, XP_016871111.1:p.Glu279dup, XP_016871110.1:p.Glu278del, XP_016871110.1:p.Glu278dup, XP_016871112.1:p.Glu279del, XP_016871112.1:p.Glu279dup, XP_016871113.1:p.Glu279del, XP_016871113.1:p.Glu279dup, XP_016871114.1:p.Glu279del, XP_016871114.1:p.Glu279dup, XP_016871115.1:p.Glu279del, XP_016871115.1:p.Glu279dup, XP_016871116.1:p.Glu209del, XP_016871116.1:p.Glu209dup, XP_016871118.1:p.Glu279del, XP_016871118.1:p.Glu279dup, NP_001337863.1:p.Glu65del, NP_001337863.1:p.Glu65dup, NP_001337862.1:p.Glu187del, NP_001337862.1:p.Glu187dup, XP_047280507.1:p.Glu279del, XP_047280507.1:p.Glu279dup, XP_047280509.1:p.Glu279del, XP_047280509.1:p.Glu279dup, XP_047280510.1:p.Glu279del, XP_047280510.1:p.Glu279dup, XP_047280511.1:p.Glu279del, XP_047280511.1:p.Glu279dup, XP_047280508.1:p.Glu257del, XP_047280508.1:p.Glu257dup, NP_001354730.1:p.Glu257del, NP_001354730.1:p.Glu257dup

    2.

    rs1490565747 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:73341532 (GRCh38)
      10:75101290 (GRCh37)
      Canonical SPDI:
      NC_000010.11:73341531:T:C
      Gene:
      CFAP70 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.73341532T>C, NC_000010.10:g.75101290T>C, XM_006717611.5:c.83A>G, XM_006717611.4:c.83A>G, XM_006717611.3:c.83A>G, XM_006717611.2:c.83A>G, XM_006717611.1:c.83A>G, XM_006717604.3:c.659A>G, XM_006717604.2:c.659A>G, XM_006717604.1:c.659A>G, XM_006717610.3:c.83A>G, XM_006717610.2:c.83A>G, XM_006717610.1:c.83A>G, NM_145170.3:c.659A>G, XM_006717605.3:c.659A>G, XM_006717605.2:c.659A>G, XM_006717605.1:c.659A>G, XM_011539212.3:c.83A>G, XM_011539212.2:c.83A>G, XM_011539212.1:c.83A>G, XM_017015620.2:c.725A>G, XM_017015620.1:c.725A>G, XM_017015622.2:c.725A>G, XM_017015622.1:c.725A>G, XM_017015621.2:c.722A>G, XM_017015621.1:c.722A>G, XM_017015623.2:c.725A>G, XM_017015623.1:c.725A>G, XM_017015624.2:c.725A>G, XM_017015624.1:c.725A>G, XM_017015625.2:c.725A>G, XM_017015625.1:c.725A>G, XM_017015626.2:c.725A>G, XM_017015626.1:c.725A>G, XM_017015627.2:c.515A>G, XM_017015627.1:c.515A>G, XM_017015629.2:c.725A>G, XM_017015629.1:c.725A>G, NM_001350934.2:c.83A>G, NM_001350934.1:c.83A>G, NM_001350933.2:c.449A>G, NM_001350933.1:c.449A>G, XM_047424551.1:c.725A>G, XM_047424553.1:c.725A>G, XM_047424554.1:c.725A>G, XM_047424555.1:c.725A>G, XM_047424552.1:c.659A>G, NM_001367801.1:c.659A>G, XP_006717674.1:p.Glu28Gly, XP_006717667.1:p.Glu220Gly, XP_006717673.1:p.Glu28Gly, XP_006717668.1:p.Glu220Gly, XP_011537514.1:p.Glu28Gly, XP_016871109.1:p.Glu242Gly, XP_016871111.1:p.Glu242Gly, XP_016871110.1:p.Glu241Gly, XP_016871112.1:p.Glu242Gly, XP_016871113.1:p.Glu242Gly, XP_016871114.1:p.Glu242Gly, XP_016871115.1:p.Glu242Gly, XP_016871116.1:p.Glu172Gly, XP_016871118.1:p.Glu242Gly, NP_001337863.1:p.Glu28Gly, NP_001337862.1:p.Glu150Gly, XP_047280507.1:p.Glu242Gly, XP_047280509.1:p.Glu242Gly, XP_047280510.1:p.Glu242Gly, XP_047280511.1:p.Glu242Gly, XP_047280508.1:p.Glu220Gly, NP_001354730.1:p.Glu220Gly

      3.

      rs1487117885 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:73278302 (GRCh38)
        10:75038060 (GRCh37)
        Canonical SPDI:
        NC_000010.11:73278301:G:A
        Gene:
        CFAP70 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000447/2 (ALFA)
        A=0.000014/2 (GnomAD)
        A=0.000446/2 (Estonian)
        HGVS:
        NC_000010.11:g.73278302G>A, NC_000010.10:g.75038060G>A, XM_006717611.5:c.1909C>T, XM_006717611.4:c.1909C>T, XM_006717611.3:c.1909C>T, XM_006717611.2:c.1909C>T, XM_006717611.1:c.1909C>T, XM_006717604.3:c.2485C>T, XM_006717604.2:c.2485C>T, XM_006717604.1:c.2485C>T, XM_006717610.3:c.1909C>T, XM_006717610.2:c.1909C>T, XM_006717610.1:c.1909C>T, NM_145170.3:c.2485C>T, XM_006717605.3:c.2485C>T, XM_006717605.2:c.2485C>T, XM_006717605.1:c.2485C>T, XM_011539212.3:c.1909C>T, XM_011539212.2:c.1909C>T, XM_011539212.1:c.1909C>T, XM_017015620.2:c.2551C>T, XM_017015620.1:c.2551C>T, XM_017015622.2:c.2548C>T, XM_017015622.1:c.2548C>T, XM_017015621.2:c.2548C>T, XM_017015621.1:c.2548C>T, XM_017015623.2:c.2473C>T, XM_017015623.1:c.2473C>T, XM_017015624.2:c.2470C>T, XM_017015624.1:c.2470C>T, XM_017015625.2:c.2551C>T, XM_017015625.1:c.2551C>T, XM_017015626.2:c.2551C>T, XM_017015626.1:c.2551C>T, XM_017015627.2:c.2341C>T, XM_017015627.1:c.2341C>T, NM_001350934.2:c.1909C>T, NM_001350934.1:c.1909C>T, NM_001350933.2:c.2275C>T, NM_001350933.1:c.2275C>T, XM_047424551.1:c.2551C>T, XM_047424553.1:c.2551C>T, XM_047424555.1:c.*9C>T, XM_047424552.1:c.2485C>T, NM_001367801.1:c.2485C>T, XP_006717674.1:p.Leu637Phe, XP_006717667.1:p.Leu829Phe, XP_006717673.1:p.Leu637Phe, XP_006717668.1:p.Leu829Phe, XP_011537514.1:p.Leu637Phe, XP_016871109.1:p.Leu851Phe, XP_016871111.1:p.Leu850Phe, XP_016871110.1:p.Leu850Phe, XP_016871112.1:p.Leu825Phe, XP_016871113.1:p.Leu824Phe, XP_016871114.1:p.Leu851Phe, XP_016871115.1:p.Leu851Phe, XP_016871116.1:p.Leu781Phe, NP_001337863.1:p.Leu637Phe, NP_001337862.1:p.Leu759Phe, XP_047280507.1:p.Leu851Phe, XP_047280509.1:p.Leu851Phe, XP_047280508.1:p.Leu829Phe, NP_001354730.1:p.Leu829Phe

        4.

        rs1485850458 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          10:73293365 (GRCh38)
          10:75053123 (GRCh37)
          Canonical SPDI:
          NC_000010.11:73293364:G:C
          Gene:
          CFAP70 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000010.11:g.73293365G>C, NC_000010.10:g.75053123G>C, XM_006717611.5:c.1302C>G, XM_006717611.4:c.1302C>G, XM_006717611.3:c.1302C>G, XM_006717611.2:c.1302C>G, XM_006717611.1:c.1302C>G, XM_006717604.3:c.1878C>G, XM_006717604.2:c.1878C>G, XM_006717604.1:c.1878C>G, XM_006717610.3:c.1302C>G, XM_006717610.2:c.1302C>G, XM_006717610.1:c.1302C>G, NM_145170.3:c.1878C>G, XM_006717605.3:c.1878C>G, XM_006717605.2:c.1878C>G, XM_006717605.1:c.1878C>G, XM_011539212.3:c.1302C>G, XM_011539212.2:c.1302C>G, XM_011539212.1:c.1302C>G, XM_017015620.2:c.1944C>G, XM_017015620.1:c.1944C>G, XM_017015622.2:c.1941C>G, XM_017015622.1:c.1941C>G, XM_017015621.2:c.1941C>G, XM_017015621.1:c.1941C>G, XM_017015623.2:c.1944C>G, XM_017015623.1:c.1944C>G, XM_017015624.2:c.1863C>G, XM_017015624.1:c.1863C>G, XM_017015625.2:c.1944C>G, XM_017015625.1:c.1944C>G, XM_017015626.2:c.1944C>G, XM_017015626.1:c.1944C>G, XM_017015627.2:c.1734C>G, XM_017015627.1:c.1734C>G, XM_017015629.2:c.1944C>G, XM_017015629.1:c.1944C>G, NM_001350934.2:c.1302C>G, NM_001350934.1:c.1302C>G, NM_001350933.2:c.1668C>G, NM_001350933.1:c.1668C>G, XM_047424551.1:c.1944C>G, XM_047424553.1:c.1944C>G, XM_047424554.1:c.1944C>G, XM_047424555.1:c.1944C>G, XM_047424552.1:c.1878C>G, NM_001367801.1:c.1878C>G

          5.

          rs1485476710 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:73256395 (GRCh38)
            10:75016153 (GRCh37)
            Canonical SPDI:
            NC_000010.11:73256394:C:T
            Gene:
            CFAP70 (Varview), DNAJC9-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            HGVS:
            NC_000010.11:g.73256395C>T, NC_000010.10:g.75016153C>T, NG_008096.1:g.1299G>A, XM_006717611.5:c.2683G>A, XM_006717611.4:c.2683G>A, XM_006717611.3:c.2683G>A, XM_006717611.2:c.2683G>A, XM_006717611.1:c.2683G>A, XM_006717604.3:c.3259G>A, XM_006717604.2:c.3259G>A, XM_006717604.1:c.3259G>A, XM_006717610.3:c.2683G>A, XM_006717610.2:c.2683G>A, XM_006717610.1:c.2683G>A, NM_145170.3:c.3259G>A, XM_006717605.3:c.3259G>A, XM_006717605.2:c.3259G>A, XM_006717605.1:c.3259G>A, XM_011539212.3:c.2683G>A, XM_011539212.2:c.2683G>A, XM_011539212.1:c.2683G>A, XM_017015620.2:c.3325G>A, XM_017015620.1:c.3325G>A, XM_017015622.2:c.3322G>A, XM_017015622.1:c.3322G>A, XM_017015621.2:c.3322G>A, XM_017015621.1:c.3322G>A, XM_017015623.2:c.3247G>A, XM_017015623.1:c.3247G>A, XM_017015624.2:c.3244G>A, XM_017015624.1:c.3244G>A, XM_017015625.2:c.3235G>A, XM_017015625.1:c.3235G>A, XM_017015626.2:c.3133G>A, XM_017015626.1:c.3133G>A, XM_017015627.2:c.3115G>A, XM_017015627.1:c.3115G>A, XM_017015629.2:c.2920G>A, XM_017015629.1:c.2920G>A, NM_001350934.2:c.2683G>A, NM_001350934.1:c.2683G>A, NM_001350933.2:c.3049G>A, NM_001350933.1:c.3049G>A, XM_047424551.1:c.3325G>A, XM_047424552.1:c.3259G>A, NM_001367801.1:c.3259G>A, XP_006717674.1:p.Glu895Lys, XP_006717667.1:p.Glu1087Lys, XP_006717673.1:p.Glu895Lys, XP_006717668.1:p.Glu1087Lys, XP_011537514.1:p.Glu895Lys, XP_016871109.1:p.Glu1109Lys, XP_016871111.1:p.Glu1108Lys, XP_016871110.1:p.Glu1108Lys, XP_016871112.1:p.Glu1083Lys, XP_016871113.1:p.Glu1082Lys, XP_016871114.1:p.Glu1079Lys, XP_016871115.1:p.Glu1045Lys, XP_016871116.1:p.Glu1039Lys, XP_016871118.1:p.Glu974Lys, NP_001337863.1:p.Glu895Lys, NP_001337862.1:p.Glu1017Lys, XP_047280507.1:p.Glu1109Lys, XP_047280508.1:p.Glu1087Lys, NP_001354730.1:p.Glu1087Lys

            6.

            rs1482111740 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              10:73291994 (GRCh38)
              10:75051752 (GRCh37)
              Canonical SPDI:
              NC_000010.11:73291993:C:G
              Gene:
              CFAP70 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.73291994C>G, NC_000010.10:g.75051752C>G, XM_006717611.5:c.1425G>C, XM_006717611.4:c.1425G>C, XM_006717611.3:c.1425G>C, XM_006717611.2:c.1425G>C, XM_006717611.1:c.1425G>C, XM_006717604.3:c.2001G>C, XM_006717604.2:c.2001G>C, XM_006717604.1:c.2001G>C, XM_006717610.3:c.1425G>C, XM_006717610.2:c.1425G>C, XM_006717610.1:c.1425G>C, NM_145170.3:c.2001G>C, XM_006717605.3:c.2001G>C, XM_006717605.2:c.2001G>C, XM_006717605.1:c.2001G>C, XM_011539212.3:c.1425G>C, XM_011539212.2:c.1425G>C, XM_011539212.1:c.1425G>C, XM_017015620.2:c.2067G>C, XM_017015620.1:c.2067G>C, XM_017015622.2:c.2064G>C, XM_017015622.1:c.2064G>C, XM_017015621.2:c.2064G>C, XM_017015621.1:c.2064G>C, XM_017015623.2:c.2067G>C, XM_017015623.1:c.2067G>C, XM_017015624.2:c.1986G>C, XM_017015624.1:c.1986G>C, XM_017015625.2:c.2067G>C, XM_017015625.1:c.2067G>C, XM_017015626.2:c.2067G>C, XM_017015626.1:c.2067G>C, XM_017015627.2:c.1857G>C, XM_017015627.1:c.1857G>C, XM_017015629.2:c.2067G>C, XM_017015629.1:c.2067G>C, NM_001350934.2:c.1425G>C, NM_001350934.1:c.1425G>C, NM_001350933.2:c.1791G>C, NM_001350933.1:c.1791G>C, XM_047424551.1:c.2067G>C, XM_047424553.1:c.2067G>C, XM_047424554.1:c.2067G>C, XM_047424555.1:c.2067G>C, XM_047424552.1:c.2001G>C, NM_001367801.1:c.2001G>C, XP_006717674.1:p.Gln475His, XP_006717667.1:p.Gln667His, XP_006717673.1:p.Gln475His, XP_006717668.1:p.Gln667His, XP_011537514.1:p.Gln475His, XP_016871109.1:p.Gln689His, XP_016871111.1:p.Gln688His, XP_016871110.1:p.Gln688His, XP_016871112.1:p.Gln689His, XP_016871113.1:p.Gln662His, XP_016871114.1:p.Gln689His, XP_016871115.1:p.Gln689His, XP_016871116.1:p.Gln619His, XP_016871118.1:p.Gln689His, NP_001337863.1:p.Gln475His, NP_001337862.1:p.Gln597His, XP_047280507.1:p.Gln689His, XP_047280509.1:p.Gln689His, XP_047280510.1:p.Gln689His, XP_047280511.1:p.Gln689His, XP_047280508.1:p.Gln667His, NP_001354730.1:p.Gln667His

              7.

              rs1481245298 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:73310204 (GRCh38)
                10:75069962 (GRCh37)
                Canonical SPDI:
                NC_000010.11:73310203:C:T
                Gene:
                CFAP70 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.73310204C>T, NC_000010.10:g.75069962C>T, XM_006717611.5:c.844G>A, XM_006717611.4:c.844G>A, XM_006717611.3:c.844G>A, XM_006717611.2:c.844G>A, XM_006717611.1:c.844G>A, XM_006717604.3:c.1420G>A, XM_006717604.2:c.1420G>A, XM_006717604.1:c.1420G>A, XM_006717610.3:c.844G>A, XM_006717610.2:c.844G>A, XM_006717610.1:c.844G>A, NM_145170.3:c.1420G>A, XM_006717605.3:c.1420G>A, XM_006717605.2:c.1420G>A, XM_006717605.1:c.1420G>A, XM_011539212.3:c.844G>A, XM_011539212.2:c.844G>A, XM_011539212.1:c.844G>A, XM_017015620.2:c.1486G>A, XM_017015620.1:c.1486G>A, XM_017015622.2:c.1483G>A, XM_017015622.1:c.1483G>A, XM_017015621.2:c.1483G>A, XM_017015621.1:c.1483G>A, XM_017015623.2:c.1486G>A, XM_017015623.1:c.1486G>A, XM_017015624.2:c.1405G>A, XM_017015624.1:c.1405G>A, XM_017015625.2:c.1486G>A, XM_017015625.1:c.1486G>A, XM_017015626.2:c.1486G>A, XM_017015626.1:c.1486G>A, XM_017015627.2:c.1276G>A, XM_017015627.1:c.1276G>A, XM_017015629.2:c.1486G>A, XM_017015629.1:c.1486G>A, NM_001350934.2:c.844G>A, NM_001350934.1:c.844G>A, NM_001350933.2:c.1210G>A, NM_001350933.1:c.1210G>A, XM_047424551.1:c.1486G>A, XM_047424553.1:c.1486G>A, XM_047424554.1:c.1486G>A, XM_047424555.1:c.1486G>A, XM_047424552.1:c.1420G>A, NM_001367801.1:c.1420G>A, XP_006717674.1:p.Asp282Asn, XP_006717667.1:p.Asp474Asn, XP_006717673.1:p.Asp282Asn, XP_006717668.1:p.Asp474Asn, XP_011537514.1:p.Asp282Asn, XP_016871109.1:p.Asp496Asn, XP_016871111.1:p.Asp495Asn, XP_016871110.1:p.Asp495Asn, XP_016871112.1:p.Asp496Asn, XP_016871113.1:p.Asp469Asn, XP_016871114.1:p.Asp496Asn, XP_016871115.1:p.Asp496Asn, XP_016871116.1:p.Asp426Asn, XP_016871118.1:p.Asp496Asn, NP_001337863.1:p.Asp282Asn, NP_001337862.1:p.Asp404Asn, XP_047280507.1:p.Asp496Asn, XP_047280509.1:p.Asp496Asn, XP_047280510.1:p.Asp496Asn, XP_047280511.1:p.Asp496Asn, XP_047280508.1:p.Asp474Asn, NP_001354730.1:p.Asp474Asn

                8.

                rs1480868258 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  10:73312553 (GRCh38)
                  10:75072311 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:73312552:G:T
                  Gene:
                  CFAP70 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000047/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.73312553G>T, NC_000010.10:g.75072311G>T, XM_006717611.5:c.637C>A, XM_006717611.4:c.637C>A, XM_006717611.3:c.637C>A, XM_006717611.2:c.637C>A, XM_006717611.1:c.637C>A, XM_006717604.3:c.1213C>A, XM_006717604.2:c.1213C>A, XM_006717604.1:c.1213C>A, XM_006717610.3:c.637C>A, XM_006717610.2:c.637C>A, XM_006717610.1:c.637C>A, NM_145170.3:c.1213C>A, XM_006717605.3:c.1213C>A, XM_006717605.2:c.1213C>A, XM_006717605.1:c.1213C>A, XM_011539212.3:c.637C>A, XM_011539212.2:c.637C>A, XM_011539212.1:c.637C>A, XM_017015620.2:c.1279C>A, XM_017015620.1:c.1279C>A, XM_017015622.2:c.1279C>A, XM_017015622.1:c.1279C>A, XM_017015621.2:c.1276C>A, XM_017015621.1:c.1276C>A, XM_017015623.2:c.1279C>A, XM_017015623.1:c.1279C>A, XM_017015624.2:c.1279C>A, XM_017015624.1:c.1279C>A, XM_017015625.2:c.1279C>A, XM_017015625.1:c.1279C>A, XM_017015626.2:c.1279C>A, XM_017015626.1:c.1279C>A, XM_017015627.2:c.1069C>A, XM_017015627.1:c.1069C>A, XM_017015629.2:c.1279C>A, XM_017015629.1:c.1279C>A, NM_001350934.2:c.637C>A, NM_001350934.1:c.637C>A, NM_001350933.2:c.1003C>A, NM_001350933.1:c.1003C>A, XM_047424551.1:c.1279C>A, XM_047424553.1:c.1279C>A, XM_047424554.1:c.1279C>A, XM_047424555.1:c.1279C>A, XM_047424552.1:c.1213C>A, NM_001367801.1:c.1213C>A, XP_006717674.1:p.Gln213Lys, XP_006717667.1:p.Gln405Lys, XP_006717673.1:p.Gln213Lys, XP_006717668.1:p.Gln405Lys, XP_011537514.1:p.Gln213Lys, XP_016871109.1:p.Gln427Lys, XP_016871111.1:p.Gln427Lys, XP_016871110.1:p.Gln426Lys, XP_016871112.1:p.Gln427Lys, XP_016871113.1:p.Gln427Lys, XP_016871114.1:p.Gln427Lys, XP_016871115.1:p.Gln427Lys, XP_016871116.1:p.Gln357Lys, XP_016871118.1:p.Gln427Lys, NP_001337863.1:p.Gln213Lys, NP_001337862.1:p.Gln335Lys, XP_047280507.1:p.Gln427Lys, XP_047280509.1:p.Gln427Lys, XP_047280510.1:p.Gln427Lys, XP_047280511.1:p.Gln427Lys, XP_047280508.1:p.Gln405Lys, NP_001354730.1:p.Gln405Lys

                  9.

                  rs1480784945 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    10:73299099 (GRCh38)
                    10:75058857 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:73299098:T:G
                    Gene:
                    CFAP70 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000010.11:g.73299099T>G, NC_000010.10:g.75058857T>G, XM_006717611.5:c.954A>C, XM_006717611.4:c.954A>C, XM_006717611.3:c.954A>C, XM_006717611.2:c.954A>C, XM_006717611.1:c.954A>C, XM_006717604.3:c.1530A>C, XM_006717604.2:c.1530A>C, XM_006717604.1:c.1530A>C, XM_006717610.3:c.954A>C, XM_006717610.2:c.954A>C, XM_006717610.1:c.954A>C, XM_006717605.3:c.1530A>C, XM_006717605.2:c.1530A>C, XM_006717605.1:c.1530A>C, XM_011539212.3:c.954A>C, XM_011539212.2:c.954A>C, XM_011539212.1:c.954A>C, XM_017015620.2:c.1596A>C, XM_017015620.1:c.1596A>C, XM_017015622.2:c.1593A>C, XM_017015622.1:c.1593A>C, XM_017015621.2:c.1593A>C, XM_017015621.1:c.1593A>C, XM_017015623.2:c.1596A>C, XM_017015623.1:c.1596A>C, XM_017015624.2:c.1515A>C, XM_017015624.1:c.1515A>C, XM_017015625.2:c.1596A>C, XM_017015625.1:c.1596A>C, XM_017015626.2:c.1596A>C, XM_017015626.1:c.1596A>C, XM_017015627.2:c.1386A>C, XM_017015627.1:c.1386A>C, XM_017015629.2:c.1596A>C, XM_017015629.1:c.1596A>C, NM_001350934.2:c.954A>C, NM_001350934.1:c.954A>C, NM_001350933.2:c.1320A>C, NM_001350933.1:c.1320A>C, XM_047424551.1:c.1596A>C, XM_047424553.1:c.1596A>C, XM_047424554.1:c.1596A>C, XM_047424555.1:c.1596A>C, XM_047424552.1:c.1530A>C, NM_001367801.1:c.1530A>C

                    10.

                    rs1479859623 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      10:73298970 (GRCh38)
                      10:75058728 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:73298969:C:T
                      Gene:
                      CFAP70 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000010.11:g.73298970C>T, NC_000010.10:g.75058728C>T, XM_006717611.5:c.1083G>A, XM_006717611.4:c.1083G>A, XM_006717611.3:c.1083G>A, XM_006717611.2:c.1083G>A, XM_006717611.1:c.1083G>A, XM_006717604.3:c.1659G>A, XM_006717604.2:c.1659G>A, XM_006717604.1:c.1659G>A, XM_006717610.3:c.1083G>A, XM_006717610.2:c.1083G>A, XM_006717610.1:c.1083G>A, NM_145170.3:c.1659G>A, XM_006717605.3:c.1659G>A, XM_006717605.2:c.1659G>A, XM_006717605.1:c.1659G>A, XM_011539212.3:c.1083G>A, XM_011539212.2:c.1083G>A, XM_011539212.1:c.1083G>A, XM_017015620.2:c.1725G>A, XM_017015620.1:c.1725G>A, XM_017015622.2:c.1722G>A, XM_017015622.1:c.1722G>A, XM_017015621.2:c.1722G>A, XM_017015621.1:c.1722G>A, XM_017015623.2:c.1725G>A, XM_017015623.1:c.1725G>A, XM_017015624.2:c.1644G>A, XM_017015624.1:c.1644G>A, XM_017015625.2:c.1725G>A, XM_017015625.1:c.1725G>A, XM_017015626.2:c.1725G>A, XM_017015626.1:c.1725G>A, XM_017015627.2:c.1515G>A, XM_017015627.1:c.1515G>A, XM_017015629.2:c.1725G>A, XM_017015629.1:c.1725G>A, NM_001350934.2:c.1083G>A, NM_001350934.1:c.1083G>A, NM_001350933.2:c.1449G>A, NM_001350933.1:c.1449G>A, XM_047424551.1:c.1725G>A, XM_047424553.1:c.1725G>A, XM_047424554.1:c.1725G>A, XM_047424555.1:c.1725G>A, XM_047424552.1:c.1659G>A, NM_001367801.1:c.1659G>A

                      11.

                      rs1479109647 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:73354766 (GRCh38)
                        10:75114524 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:73354765:C:T
                        Gene:
                        CFAP70 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000010.11:g.73354766C>T, NC_000010.10:g.75114524C>T, XM_006717604.3:c.31G>A, XM_006717604.2:c.31G>A, XM_006717604.1:c.31G>A, NM_145170.3:c.31G>A, XM_006717605.3:c.31G>A, XM_006717605.2:c.31G>A, XM_006717605.1:c.31G>A, XM_017015620.2:c.97G>A, XM_017015620.1:c.97G>A, XM_017015622.2:c.97G>A, XM_017015622.1:c.97G>A, XM_017015621.2:c.97G>A, XM_017015621.1:c.97G>A, XM_017015623.2:c.97G>A, XM_017015623.1:c.97G>A, XM_017015624.2:c.97G>A, XM_017015624.1:c.97G>A, XM_017015625.2:c.97G>A, XM_017015625.1:c.97G>A, XM_017015626.2:c.97G>A, XM_017015626.1:c.97G>A, XM_017015627.2:c.97G>A, XM_017015627.1:c.97G>A, XM_017015629.2:c.97G>A, XM_017015629.1:c.97G>A, NM_001350933.2:c.31G>A, NM_001350933.1:c.31G>A, XM_047424551.1:c.97G>A, XM_047424553.1:c.97G>A, XM_047424554.1:c.97G>A, XM_047424555.1:c.97G>A, XM_047424552.1:c.31G>A, NM_001367801.1:c.31G>A, XP_006717667.1:p.Val11Met, XP_006717668.1:p.Val11Met, XP_016871109.1:p.Val33Met, XP_016871111.1:p.Val33Met, XP_016871110.1:p.Val33Met, XP_016871112.1:p.Val33Met, XP_016871113.1:p.Val33Met, XP_016871114.1:p.Val33Met, XP_016871115.1:p.Val33Met, XP_016871116.1:p.Val33Met, XP_016871118.1:p.Val33Met, NP_001337862.1:p.Val11Met, XP_047280507.1:p.Val33Met, XP_047280509.1:p.Val33Met, XP_047280510.1:p.Val33Met, XP_047280511.1:p.Val33Met, XP_047280508.1:p.Val11Met, NP_001354730.1:p.Val11Met

                        12.

                        rs1478839161 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->GT [Show Flanks]
                          Chromosome:
                          10:73254027 (GRCh38)
                          10:75013786 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:73254027::GT
                          Gene:
                          MRPS16 (Varview), CFAP70 (Varview), DNAJC9-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
                          HGVS:
                          NC_000010.11:g.73254027_73254028insGT, NC_000010.10:g.75013785_75013786insGT, NG_008096.1:g.3666_3667insAC, XM_006717611.5:c.2737_2738insAC, XM_006717611.4:c.2737_2738insAC, XM_006717611.3:c.2737_2738insAC, XM_006717611.2:c.2737_2738insAC, XM_006717611.1:c.2737_2738insAC, XM_006717604.3:c.3313_3314insAC, XM_006717604.2:c.3313_3314insAC, XM_006717604.1:c.3313_3314insAC, XM_006717610.3:c.2737_2738insAC, XM_006717610.2:c.2737_2738insAC, XM_006717610.1:c.2737_2738insAC, NM_145170.3:c.3313_3314insAC, XM_006717605.3:c.3313_3314insAC, XM_006717605.2:c.3313_3314insAC, XM_006717605.1:c.3313_3314insAC, XM_011539212.3:c.2737_2738insAC, XM_011539212.2:c.2737_2738insAC, XM_011539212.1:c.2737_2738insAC, XM_017015620.2:c.3379_3380insAC, XM_017015620.1:c.3379_3380insAC, XM_017015622.2:c.3376_3377insAC, XM_017015622.1:c.3376_3377insAC, XM_017015621.2:c.3376_3377insAC, XM_017015621.1:c.3376_3377insAC, XM_017015623.2:c.3301_3302insAC, XM_017015623.1:c.3301_3302insAC, XM_017015624.2:c.3298_3299insAC, XM_017015624.1:c.3298_3299insAC, XM_017015625.2:c.3289_3290insAC, XM_017015625.1:c.3289_3290insAC, XM_017015626.2:c.3187_3188insAC, XM_017015626.1:c.3187_3188insAC, XM_017015627.2:c.3169_3170insAC, XM_017015627.1:c.3169_3170insAC, XM_017015629.2:c.2974_2975insAC, XM_017015629.1:c.2974_2975insAC, NM_001350934.2:c.2737_2738insAC, NM_001350934.1:c.2737_2738insAC, NM_001350933.2:c.3103_3104insAC, NM_001350933.1:c.3103_3104insAC, XM_047424551.1:c.3379_3380insAC, XM_047424552.1:c.3313_3314insAC, NM_001367801.1:c.3313_3314insAC, NR_134460.1:n.522_523insGT, NR_134459.1:n.490_491insGT, XP_006717674.1:p.Ala913fs, XP_006717667.1:p.Ala1105fs, XP_006717673.1:p.Ala913fs, XP_006717668.1:p.Ala1105fs, XP_011537514.1:p.Ala913fs, XP_016871109.1:p.Ala1127fs, XP_016871111.1:p.Ala1126fs, XP_016871110.1:p.Ala1126fs, XP_016871112.1:p.Ala1101fs, XP_016871113.1:p.Ala1100fs, XP_016871114.1:p.Ala1097fs, XP_016871115.1:p.Ala1063fs, XP_016871116.1:p.Ala1057fs, XP_016871118.1:p.Ala992fs, NP_001337863.1:p.Ala913fs, NP_001337862.1:p.Ala1035fs, XP_047280507.1:p.Ala1127fs, XP_047280508.1:p.Ala1105fs, NP_001354730.1:p.Ala1105fs

                          13.

                          rs1478284868 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            10:73291709 (GRCh38)
                            10:75051467 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:73291708:G:T
                            Gene:
                            CFAP70 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000043/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.73291709G>T, NC_000010.10:g.75051467G>T, XM_006717611.5:c.1585C>A, XM_006717611.4:c.1585C>A, XM_006717611.3:c.1585C>A, XM_006717611.2:c.1585C>A, XM_006717611.1:c.1585C>A, XM_006717604.3:c.2161C>A, XM_006717604.2:c.2161C>A, XM_006717604.1:c.2161C>A, XM_006717610.3:c.1585C>A, XM_006717610.2:c.1585C>A, XM_006717610.1:c.1585C>A, NM_145170.3:c.2161C>A, XM_006717605.3:c.2161C>A, XM_006717605.2:c.2161C>A, XM_006717605.1:c.2161C>A, XM_011539212.3:c.1585C>A, XM_011539212.2:c.1585C>A, XM_011539212.1:c.1585C>A, XM_017015620.2:c.2227C>A, XM_017015620.1:c.2227C>A, XM_017015622.2:c.2224C>A, XM_017015622.1:c.2224C>A, XM_017015621.2:c.2224C>A, XM_017015621.1:c.2224C>A, XM_017015623.2:c.2227C>A, XM_017015623.1:c.2227C>A, XM_017015624.2:c.2146C>A, XM_017015624.1:c.2146C>A, XM_017015625.2:c.2227C>A, XM_017015625.1:c.2227C>A, XM_017015626.2:c.2227C>A, XM_017015626.1:c.2227C>A, XM_017015627.2:c.2017C>A, XM_017015627.1:c.2017C>A, XM_017015629.2:c.2227C>A, XM_017015629.1:c.2227C>A, NM_001350934.2:c.1585C>A, NM_001350934.1:c.1585C>A, NM_001350933.2:c.1951C>A, NM_001350933.1:c.1951C>A, XM_047424551.1:c.2227C>A, XM_047424553.1:c.2227C>A, XM_047424554.1:c.2227C>A, XM_047424555.1:c.2227C>A, XM_047424552.1:c.2161C>A, NM_001367801.1:c.2161C>A, XP_006717674.1:p.Gln529Lys, XP_006717667.1:p.Gln721Lys, XP_006717673.1:p.Gln529Lys, XP_006717668.1:p.Gln721Lys, XP_011537514.1:p.Gln529Lys, XP_016871109.1:p.Gln743Lys, XP_016871111.1:p.Gln742Lys, XP_016871110.1:p.Gln742Lys, XP_016871112.1:p.Gln743Lys, XP_016871113.1:p.Gln716Lys, XP_016871114.1:p.Gln743Lys, XP_016871115.1:p.Gln743Lys, XP_016871116.1:p.Gln673Lys, XP_016871118.1:p.Gln743Lys, NP_001337863.1:p.Gln529Lys, NP_001337862.1:p.Gln651Lys, XP_047280507.1:p.Gln743Lys, XP_047280509.1:p.Gln743Lys, XP_047280510.1:p.Gln743Lys, XP_047280511.1:p.Gln743Lys, XP_047280508.1:p.Gln721Lys, NP_001354730.1:p.Gln721Lys

                            14.

                            rs1477622152 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:73277280 (GRCh38)
                              10:75037038 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:73277279:A:G
                              Gene:
                              CFAP70 (Varview), DNAJC9-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              HGVS:
                              NC_000010.11:g.73277280A>G, NC_000010.10:g.75037038A>G, XM_006717611.5:c.2114T>C, XM_006717611.4:c.2114T>C, XM_006717611.3:c.2114T>C, XM_006717611.2:c.2114T>C, XM_006717611.1:c.2114T>C, XM_006717604.3:c.2690T>C, XM_006717604.2:c.2690T>C, XM_006717604.1:c.2690T>C, XM_006717610.3:c.2114T>C, XM_006717610.2:c.2114T>C, XM_006717610.1:c.2114T>C, NM_145170.3:c.2690T>C, XM_006717605.3:c.2690T>C, XM_006717605.2:c.2690T>C, XM_006717605.1:c.2690T>C, XM_011539212.3:c.2114T>C, XM_011539212.2:c.2114T>C, XM_011539212.1:c.2114T>C, XM_017015620.2:c.2756T>C, XM_017015620.1:c.2756T>C, XM_017015622.2:c.2753T>C, XM_017015622.1:c.2753T>C, XM_017015621.2:c.2753T>C, XM_017015621.1:c.2753T>C, XM_017015623.2:c.2678T>C, XM_017015623.1:c.2678T>C, XM_017015624.2:c.2675T>C, XM_017015624.1:c.2675T>C, XM_017015625.2:c.2756T>C, XM_017015625.1:c.2756T>C, XM_017015626.2:c.2756T>C, XM_017015626.1:c.2756T>C, XM_017015627.2:c.2546T>C, XM_017015627.1:c.2546T>C, NM_001350934.2:c.2114T>C, NM_001350934.1:c.2114T>C, NM_001350933.2:c.2480T>C, NM_001350933.1:c.2480T>C, XM_047424551.1:c.2756T>C, XM_047424552.1:c.2690T>C, NM_001367801.1:c.2690T>C, XP_006717674.1:p.Met705Thr, XP_006717667.1:p.Met897Thr, XP_006717673.1:p.Met705Thr, XP_006717668.1:p.Met897Thr, XP_011537514.1:p.Met705Thr, XP_016871109.1:p.Met919Thr, XP_016871111.1:p.Met918Thr, XP_016871110.1:p.Met918Thr, XP_016871112.1:p.Met893Thr, XP_016871113.1:p.Met892Thr, XP_016871114.1:p.Met919Thr, XP_016871115.1:p.Met919Thr, XP_016871116.1:p.Met849Thr, NP_001337863.1:p.Met705Thr, NP_001337862.1:p.Met827Thr, XP_047280507.1:p.Met919Thr, XP_047280508.1:p.Met897Thr, NP_001354730.1:p.Met897Thr

                              15.

                              rs1476787249 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:73345181 (GRCh38)
                                10:75104939 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:73345180:C:T
                                Gene:
                                CFAP70 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.73345181C>T, NC_000010.10:g.75104939C>T, XM_006717611.5:c.-84G>A, XM_006717611.4:c.-84G>A, XM_006717611.3:c.-84G>A, XM_006717611.2:c.-84G>A, XM_006717611.1:c.-84G>A, XM_006717604.3:c.493G>A, XM_006717604.2:c.493G>A, XM_006717604.1:c.493G>A, NM_145170.3:c.493G>A, XM_006717605.3:c.493G>A, XM_006717605.2:c.493G>A, XM_006717605.1:c.493G>A, XM_011539212.3:c.-84G>A, XM_011539212.2:c.-84G>A, XM_011539212.1:c.-84G>A, XM_017015620.2:c.559G>A, XM_017015620.1:c.559G>A, XM_017015622.2:c.559G>A, XM_017015622.1:c.559G>A, XM_017015621.2:c.556G>A, XM_017015621.1:c.556G>A, XM_017015623.2:c.559G>A, XM_017015623.1:c.559G>A, XM_017015624.2:c.559G>A, XM_017015624.1:c.559G>A, XM_017015625.2:c.559G>A, XM_017015625.1:c.559G>A, XM_017015626.2:c.559G>A, XM_017015626.1:c.559G>A, XM_017015629.2:c.559G>A, XM_017015629.1:c.559G>A, NM_001350934.2:c.-84G>A, NM_001350934.1:c.-84G>A, XM_047424551.1:c.559G>A, XM_047424553.1:c.559G>A, XM_047424554.1:c.559G>A, XM_047424555.1:c.559G>A, XM_047424552.1:c.493G>A, NM_001367801.1:c.493G>A, XP_006717667.1:p.Gly165Arg, XP_006717668.1:p.Gly165Arg, XP_016871109.1:p.Gly187Arg, XP_016871111.1:p.Gly187Arg, XP_016871110.1:p.Gly186Arg, XP_016871112.1:p.Gly187Arg, XP_016871113.1:p.Gly187Arg, XP_016871114.1:p.Gly187Arg, XP_016871115.1:p.Gly187Arg, XP_016871118.1:p.Gly187Arg, XP_047280507.1:p.Gly187Arg, XP_047280509.1:p.Gly187Arg, XP_047280510.1:p.Gly187Arg, XP_047280511.1:p.Gly187Arg, XP_047280508.1:p.Gly165Arg, NP_001354730.1:p.Gly165Arg

                                16.

                                rs1476222313 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  10:73272938 (GRCh38)
                                  10:75032696 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:73272937:G:T
                                  Gene:
                                  CFAP70 (Varview), DNAJC9-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000010.11:g.73272938G>T, NC_000010.10:g.75032696G>T, XM_006717611.5:c.2549C>A, XM_006717611.4:c.2549C>A, XM_006717611.3:c.2549C>A, XM_006717611.2:c.2549C>A, XM_006717611.1:c.2549C>A, XM_006717604.3:c.3125C>A, XM_006717604.2:c.3125C>A, XM_006717604.1:c.3125C>A, XM_006717610.3:c.2549C>A, XM_006717610.2:c.2549C>A, XM_006717610.1:c.2549C>A, NM_145170.3:c.3125C>A, XM_006717605.3:c.3125C>A, XM_006717605.2:c.3125C>A, XM_006717605.1:c.3125C>A, XM_011539212.3:c.2549C>A, XM_011539212.2:c.2549C>A, XM_011539212.1:c.2549C>A, XM_017015620.2:c.3191C>A, XM_017015620.1:c.3191C>A, XM_017015622.2:c.3188C>A, XM_017015622.1:c.3188C>A, XM_017015621.2:c.3188C>A, XM_017015621.1:c.3188C>A, XM_017015623.2:c.3113C>A, XM_017015623.1:c.3113C>A, XM_017015624.2:c.3110C>A, XM_017015624.1:c.3110C>A, XM_017015627.2:c.2981C>A, XM_017015627.1:c.2981C>A, XM_017015629.2:c.2786C>A, XM_017015629.1:c.2786C>A, NM_001350934.2:c.2549C>A, NM_001350934.1:c.2549C>A, NM_001350933.2:c.2915C>A, NM_001350933.1:c.2915C>A, XM_047424551.1:c.3191C>A, XM_047424552.1:c.3125C>A, NM_001367801.1:c.3125C>A, NR_134458.1:n.481G>T, NR_038373.1:n.301G>T, XP_006717674.1:p.Ala850Asp, XP_006717667.1:p.Ala1042Asp, XP_006717673.1:p.Ala850Asp, XP_006717668.1:p.Ala1042Asp, XP_011537514.1:p.Ala850Asp, XP_016871109.1:p.Ala1064Asp, XP_016871111.1:p.Ala1063Asp, XP_016871110.1:p.Ala1063Asp, XP_016871112.1:p.Ala1038Asp, XP_016871113.1:p.Ala1037Asp, XP_016871116.1:p.Ala994Asp, XP_016871118.1:p.Ala929Asp, NP_001337863.1:p.Ala850Asp, NP_001337862.1:p.Ala972Asp, XP_047280507.1:p.Ala1064Asp, XP_047280508.1:p.Ala1042Asp, NP_001354730.1:p.Ala1042Asp

                                  17.

                                  rs1476208081 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:73269642 (GRCh38)
                                    10:75029400 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:73269641:C:T
                                    Gene:
                                    CFAP70 (Varview), DNAJC9-AS1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,stop_gained,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.73269642C>T, NC_000010.10:g.75029400C>T, XM_006717611.5:c.2633G>A, XM_006717611.4:c.2633G>A, XM_006717611.3:c.2633G>A, XM_006717611.2:c.2633G>A, XM_006717611.1:c.2633G>A, XM_006717604.3:c.3209G>A, XM_006717604.2:c.3209G>A, XM_006717604.1:c.3209G>A, XM_006717610.3:c.2633G>A, XM_006717610.2:c.2633G>A, XM_006717610.1:c.2633G>A, NM_145170.3:c.3209G>A, XM_006717605.3:c.3209G>A, XM_006717605.2:c.3209G>A, XM_006717605.1:c.3209G>A, XM_011539212.3:c.2633G>A, XM_011539212.2:c.2633G>A, XM_011539212.1:c.2633G>A, XM_017015620.2:c.3275G>A, XM_017015620.1:c.3275G>A, XM_017015622.2:c.3272G>A, XM_017015622.1:c.3272G>A, XM_017015621.2:c.3272G>A, XM_017015621.1:c.3272G>A, XM_017015623.2:c.3197G>A, XM_017015623.1:c.3197G>A, XM_017015624.2:c.3194G>A, XM_017015624.1:c.3194G>A, XM_017015625.2:c.3185G>A, XM_017015625.1:c.3185G>A, XM_017015627.2:c.3065G>A, XM_017015627.1:c.3065G>A, XM_017015629.2:c.2870G>A, XM_017015629.1:c.2870G>A, NM_001350934.2:c.2633G>A, NM_001350934.1:c.2633G>A, NM_001350933.2:c.2999G>A, NM_001350933.1:c.2999G>A, XM_047424551.1:c.3275G>A, XM_047424552.1:c.3209G>A, NM_001367801.1:c.3209G>A, XP_006717674.1:p.Trp878Ter, XP_006717667.1:p.Trp1070Ter, XP_006717673.1:p.Trp878Ter, XP_006717668.1:p.Trp1070Ter, XP_011537514.1:p.Trp878Ter, XP_016871109.1:p.Trp1092Ter, XP_016871111.1:p.Trp1091Ter, XP_016871110.1:p.Trp1091Ter, XP_016871112.1:p.Trp1066Ter, XP_016871113.1:p.Trp1065Ter, XP_016871114.1:p.Trp1062Ter, XP_016871116.1:p.Trp1022Ter, XP_016871118.1:p.Trp957Ter, NP_001337863.1:p.Trp878Ter, NP_001337862.1:p.Trp1000Ter, XP_047280507.1:p.Trp1092Ter, XP_047280508.1:p.Trp1070Ter, NP_001354730.1:p.Trp1070Ter

                                    18.

                                    rs1475992643 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:73278317 (GRCh38)
                                      10:75038075 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:73278316:T:C
                                      Gene:
                                      CFAP70 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000029/4 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.73278317T>C, NC_000010.10:g.75038075T>C, XM_006717611.5:c.1894A>G, XM_006717611.4:c.1894A>G, XM_006717611.3:c.1894A>G, XM_006717611.2:c.1894A>G, XM_006717611.1:c.1894A>G, XM_006717604.3:c.2470A>G, XM_006717604.2:c.2470A>G, XM_006717604.1:c.2470A>G, XM_006717610.3:c.1894A>G, XM_006717610.2:c.1894A>G, XM_006717610.1:c.1894A>G, NM_145170.3:c.2470A>G, XM_006717605.3:c.2470A>G, XM_006717605.2:c.2470A>G, XM_006717605.1:c.2470A>G, XM_011539212.3:c.1894A>G, XM_011539212.2:c.1894A>G, XM_011539212.1:c.1894A>G, XM_017015620.2:c.2536A>G, XM_017015620.1:c.2536A>G, XM_017015622.2:c.2533A>G, XM_017015622.1:c.2533A>G, XM_017015621.2:c.2533A>G, XM_017015621.1:c.2533A>G, XM_017015623.2:c.2458A>G, XM_017015623.1:c.2458A>G, XM_017015624.2:c.2455A>G, XM_017015624.1:c.2455A>G, XM_017015625.2:c.2536A>G, XM_017015625.1:c.2536A>G, XM_017015626.2:c.2536A>G, XM_017015626.1:c.2536A>G, XM_017015627.2:c.2326A>G, XM_017015627.1:c.2326A>G, NM_001350934.2:c.1894A>G, NM_001350934.1:c.1894A>G, NM_001350933.2:c.2260A>G, NM_001350933.1:c.2260A>G, XM_047424551.1:c.2536A>G, XM_047424553.1:c.2536A>G, XM_047424555.1:c.2412A>G, XM_047424552.1:c.2470A>G, NM_001367801.1:c.2470A>G, XP_006717674.1:p.Ile632Val, XP_006717667.1:p.Ile824Val, XP_006717673.1:p.Ile632Val, XP_006717668.1:p.Ile824Val, XP_011537514.1:p.Ile632Val, XP_016871109.1:p.Ile846Val, XP_016871111.1:p.Ile845Val, XP_016871110.1:p.Ile845Val, XP_016871112.1:p.Ile820Val, XP_016871113.1:p.Ile819Val, XP_016871114.1:p.Ile846Val, XP_016871115.1:p.Ile846Val, XP_016871116.1:p.Ile776Val, NP_001337863.1:p.Ile632Val, NP_001337862.1:p.Ile754Val, XP_047280507.1:p.Ile846Val, XP_047280509.1:p.Ile846Val, XP_047280508.1:p.Ile824Val, NP_001354730.1:p.Ile824Val

                                      19.

                                      rs1475416325 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:73275505 (GRCh38)
                                        10:75035263 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:73275504:T:C
                                        Gene:
                                        CFAP70 (Varview), DNAJC9-AS1 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        C=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000010.11:g.73275505T>C, NC_000010.10:g.75035263T>C, XM_006717611.5:c.2248A>G, XM_006717611.4:c.2248A>G, XM_006717611.3:c.2248A>G, XM_006717611.2:c.2248A>G, XM_006717611.1:c.2248A>G, XM_006717604.3:c.2824A>G, XM_006717604.2:c.2824A>G, XM_006717604.1:c.2824A>G, XM_006717610.3:c.2248A>G, XM_006717610.2:c.2248A>G, XM_006717610.1:c.2248A>G, NM_145170.3:c.2824A>G, XM_006717605.3:c.2824A>G, XM_006717605.2:c.2824A>G, XM_006717605.1:c.2824A>G, XM_011539212.3:c.2248A>G, XM_011539212.2:c.2248A>G, XM_011539212.1:c.2248A>G, XM_017015620.2:c.2890A>G, XM_017015620.1:c.2890A>G, XM_017015622.2:c.2887A>G, XM_017015622.1:c.2887A>G, XM_017015621.2:c.2887A>G, XM_017015621.1:c.2887A>G, XM_017015623.2:c.2812A>G, XM_017015623.1:c.2812A>G, XM_017015624.2:c.2809A>G, XM_017015624.1:c.2809A>G, XM_017015625.2:c.2890A>G, XM_017015625.1:c.2890A>G, XM_017015626.2:c.2890A>G, XM_017015626.1:c.2890A>G, XM_017015627.2:c.2680A>G, XM_017015627.1:c.2680A>G, XM_017015629.2:c.2485A>G, XM_017015629.1:c.2485A>G, NM_001350934.2:c.2248A>G, NM_001350934.1:c.2248A>G, NM_001350933.2:c.2614A>G, NM_001350933.1:c.2614A>G, XM_047424551.1:c.2890A>G, XM_047424552.1:c.2824A>G, NM_001367801.1:c.2824A>G, NR_134458.1:n.1559T>C, NR_038373.1:n.1379T>C, XP_006717674.1:p.Lys750Glu, XP_006717667.1:p.Lys942Glu, XP_006717673.1:p.Lys750Glu, XP_006717668.1:p.Lys942Glu, XP_011537514.1:p.Lys750Glu, XP_016871109.1:p.Lys964Glu, XP_016871111.1:p.Lys963Glu, XP_016871110.1:p.Lys963Glu, XP_016871112.1:p.Lys938Glu, XP_016871113.1:p.Lys937Glu, XP_016871114.1:p.Lys964Glu, XP_016871115.1:p.Lys964Glu, XP_016871116.1:p.Lys894Glu, XP_016871118.1:p.Lys829Glu, NP_001337863.1:p.Lys750Glu, NP_001337862.1:p.Lys872Glu, XP_047280507.1:p.Lys964Glu, XP_047280508.1:p.Lys942Glu, NP_001354730.1:p.Lys942Glu

                                        20.

                                        rs1474926181 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:73311864 (GRCh38)
                                          10:75071622 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:73311863:T:C
                                          Gene:
                                          CFAP70 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000010.11:g.73311864T>C, NC_000010.10:g.75071622T>C, XM_006717611.5:c.768A>G, XM_006717611.4:c.768A>G, XM_006717611.3:c.768A>G, XM_006717611.2:c.768A>G, XM_006717611.1:c.768A>G, XM_006717604.3:c.1344A>G, XM_006717604.2:c.1344A>G, XM_006717604.1:c.1344A>G, XM_006717610.3:c.768A>G, XM_006717610.2:c.768A>G, XM_006717610.1:c.768A>G, NM_145170.3:c.1344A>G, XM_006717605.3:c.1344A>G, XM_006717605.2:c.1344A>G, XM_006717605.1:c.1344A>G, XM_011539212.3:c.768A>G, XM_011539212.2:c.768A>G, XM_011539212.1:c.768A>G, XM_017015620.2:c.1410A>G, XM_017015620.1:c.1410A>G, XM_017015622.2:c.1407A>G, XM_017015622.1:c.1407A>G, XM_017015621.2:c.1407A>G, XM_017015621.1:c.1407A>G, XM_017015623.2:c.1410A>G, XM_017015623.1:c.1410A>G, XM_017015625.2:c.1410A>G, XM_017015625.1:c.1410A>G, XM_017015626.2:c.1410A>G, XM_017015626.1:c.1410A>G, XM_017015627.2:c.1200A>G, XM_017015627.1:c.1200A>G, XM_017015629.2:c.1410A>G, XM_017015629.1:c.1410A>G, NM_001350934.2:c.768A>G, NM_001350934.1:c.768A>G, NM_001350933.2:c.1134A>G, NM_001350933.1:c.1134A>G, XM_047424551.1:c.1410A>G, XM_047424553.1:c.1410A>G, XM_047424554.1:c.1410A>G, XM_047424555.1:c.1410A>G, XM_047424552.1:c.1344A>G, NM_001367801.1:c.1344A>G

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