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1.

rs1490841712 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    1:243185814 (GRCh38)
    1:243349116 (GRCh37)
    Canonical SPDI:
    NC_000001.11:243185813:T:G
    Gene:
    CEP170 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.243185814T>G, NC_000001.10:g.243349116T>G, NG_029663.2:g.74593A>C, NM_014812.3:c.1531A>C, NM_014812.2:c.1531A>C, NT_187519.1:g.197922T>G, XM_006711843.5:c.1717A>C, XM_006711843.4:c.1717A>C, XM_006711843.3:c.1717A>C, XM_006711843.2:c.1717A>C, XM_006711843.1:c.1717A>C, XM_011544335.4:c.1717A>C, XM_011544335.3:c.1717A>C, XM_011544335.2:c.1717A>C, XM_011544335.1:c.1717A>C, XM_011544334.4:c.1717A>C, XM_011544334.3:c.1717A>C, XM_011544334.2:c.1717A>C, XM_011544334.1:c.1717A>C, XM_011544337.4:c.1717A>C, XM_011544337.3:c.1717A>C, XM_011544337.2:c.1717A>C, XM_011544337.1:c.1717A>C, XM_011544338.4:c.1717A>C, XM_011544338.3:c.1717A>C, XM_011544338.2:c.1717A>C, XM_011544338.1:c.1717A>C, XM_011544339.4:c.1717A>C, XM_011544339.3:c.1717A>C, XM_011544339.2:c.1717A>C, XM_011544339.1:c.1717A>C, XM_011544340.4:c.1717A>C, XM_011544340.3:c.1717A>C, XM_011544340.2:c.1717A>C, XM_011544340.1:c.1717A>C, XM_011544341.4:c.1531A>C, XM_011544341.3:c.1531A>C, XM_011544341.2:c.1531A>C, XM_011544341.1:c.1531A>C, XM_011544342.4:c.1717A>C, XM_011544342.3:c.1717A>C, XM_011544342.2:c.1717A>C, XM_011544342.1:c.1717A>C, XM_011544343.4:c.1240A>C, XM_011544343.3:c.1240A>C, XM_011544343.2:c.1240A>C, XM_011544343.1:c.1240A>C, XM_011544336.3:c.1717A>C, XM_011544336.2:c.1717A>C, XM_011544336.1:c.1717A>C, XM_017002935.3:c.1531A>C, XM_017002935.2:c.1531A>C, XM_017002935.1:c.1531A>C, XM_017002937.3:c.1531A>C, XM_017002937.2:c.1531A>C, XM_017002937.1:c.1531A>C, XM_017002938.3:c.1531A>C, XM_017002938.2:c.1531A>C, XM_017002938.1:c.1531A>C, XM_017002942.3:c.1531A>C, XM_017002942.2:c.1531A>C, XM_017002942.1:c.1531A>C, XM_017002946.3:c.1054A>C, XM_017002946.2:c.1054A>C, XM_017002946.1:c.1054A>C, XM_017002932.2:c.1717A>C, XM_017002932.1:c.1717A>C, XM_047435483.1:c.1717A>C, XM_047435495.1:c.1717A>C, NP_055627.2:p.Ser511Arg, XP_006711906.1:p.Ser573Arg, XP_011542637.1:p.Ser573Arg, XP_011542636.1:p.Ser573Arg, XP_011542639.1:p.Ser573Arg, XP_011542640.1:p.Ser573Arg, XP_011542641.1:p.Ser573Arg, XP_011542642.1:p.Ser573Arg, XP_011542643.1:p.Ser511Arg, XP_011542644.1:p.Ser573Arg, XP_011542645.1:p.Ser414Arg, XP_011542638.1:p.Ser573Arg, XP_016858424.1:p.Ser511Arg, XP_016858426.1:p.Ser511Arg, XP_016858427.1:p.Ser511Arg, XP_016858431.1:p.Ser511Arg, XP_016858435.1:p.Ser352Arg, XP_016858421.1:p.Ser573Arg, XP_047291439.1:p.Ser573Arg, XP_047291451.1:p.Ser573Arg

    2.

    rs1489504649 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:243142327 (GRCh38)
      1:243305629 (GRCh37)
      Canonical SPDI:
      NC_000001.11:243142326:T:C
      Gene:
      CEP170 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.243142327T>C, NC_000001.10:g.243305629T>C, NG_029663.2:g.118080A>G, NM_014812.3:c.4048A>G, NM_014812.2:c.4048A>G, NM_001042404.2:c.3754A>G, NM_001042404.1:c.3754A>G, NM_001042405.2:c.3646A>G, NM_001042405.1:c.3646A>G, NT_187519.1:g.154435T>C, XM_006711843.5:c.4234A>G, XM_006711843.4:c.4234A>G, XM_006711843.3:c.4234A>G, XM_006711843.2:c.4234A>G, XM_006711843.1:c.4234A>G, XM_011544335.4:c.4234A>G, XM_011544335.3:c.4234A>G, XM_011544335.2:c.4234A>G, XM_011544335.1:c.4234A>G, XM_011544334.4:c.4234A>G, XM_011544334.3:c.4234A>G, XM_011544334.2:c.4234A>G, XM_011544334.1:c.4234A>G, XM_011544337.4:c.4234A>G, XM_011544337.3:c.4234A>G, XM_011544337.2:c.4234A>G, XM_011544337.1:c.4234A>G, XM_011544339.4:c.4126A>G, XM_011544339.3:c.4126A>G, XM_011544339.2:c.4126A>G, XM_011544339.1:c.4126A>G, XM_011544340.4:c.4126A>G, XM_011544340.3:c.4126A>G, XM_011544340.2:c.4126A>G, XM_011544340.1:c.4126A>G, XM_011544341.4:c.4048A>G, XM_011544341.3:c.4048A>G, XM_011544341.2:c.4048A>G, XM_011544341.1:c.4048A>G, XM_011544343.4:c.3757A>G, XM_011544343.3:c.3757A>G, XM_011544343.2:c.3757A>G, XM_011544343.1:c.3757A>G, XM_011544344.4:c.3754A>G, XM_011544344.3:c.3754A>G, XM_011544344.2:c.3754A>G, XM_011544344.1:c.3754A>G, XM_011544336.3:c.4234A>G, XM_011544336.2:c.4234A>G, XM_011544336.1:c.4234A>G, XM_017002937.3:c.3940A>G, XM_017002937.2:c.3940A>G, XM_017002937.1:c.3940A>G, XM_017002938.3:c.3940A>G, XM_017002938.2:c.3940A>G, XM_017002938.1:c.3940A>G, XM_017002947.3:c.3646A>G, XM_017002947.2:c.3646A>G, XM_017002947.1:c.3646A>G, XM_017002946.3:c.3571A>G, XM_017002946.2:c.3571A>G, XM_017002946.1:c.3571A>G, XM_017002951.3:c.3277A>G, XM_017002951.2:c.3277A>G, XM_017002951.1:c.3277A>G, XM_017002932.2:c.4234A>G, XM_017002932.1:c.4234A>G, XM_047435483.1:c.4234A>G, XM_047435495.1:c.4234A>G, NP_055627.2:p.Thr1350Ala, NP_001035863.1:p.Thr1252Ala, NP_001035864.1:p.Thr1216Ala, XP_006711906.1:p.Thr1412Ala, XP_011542637.1:p.Thr1412Ala, XP_011542636.1:p.Thr1412Ala, XP_011542639.1:p.Thr1412Ala, XP_011542641.1:p.Thr1376Ala, XP_011542642.1:p.Thr1376Ala, XP_011542643.1:p.Thr1350Ala, XP_011542645.1:p.Thr1253Ala, XP_011542646.1:p.Thr1252Ala, XP_011542638.1:p.Thr1412Ala, XP_016858426.1:p.Thr1314Ala, XP_016858427.1:p.Thr1314Ala, XP_016858436.1:p.Thr1216Ala, XP_016858435.1:p.Thr1191Ala, XP_016858440.1:p.Thr1093Ala, XP_016858421.1:p.Thr1412Ala, XP_047291439.1:p.Thr1412Ala, XP_047291451.1:p.Thr1412Ala

      3.

      rs1489181466 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        1:243185916 (GRCh38)
        1:243349218 (GRCh37)
        Canonical SPDI:
        NC_000001.11:243185915:T:G
        Gene:
        CEP170 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.243185916T>G, NC_000001.10:g.243349218T>G, NG_029663.2:g.74491A>C, NM_014812.3:c.1429A>C, NM_014812.2:c.1429A>C, NT_187519.1:g.198024T>G, XM_006711843.5:c.1615A>C, XM_006711843.4:c.1615A>C, XM_006711843.3:c.1615A>C, XM_006711843.2:c.1615A>C, XM_006711843.1:c.1615A>C, XM_011544335.4:c.1615A>C, XM_011544335.3:c.1615A>C, XM_011544335.2:c.1615A>C, XM_011544335.1:c.1615A>C, XM_011544334.4:c.1615A>C, XM_011544334.3:c.1615A>C, XM_011544334.2:c.1615A>C, XM_011544334.1:c.1615A>C, XM_011544337.4:c.1615A>C, XM_011544337.3:c.1615A>C, XM_011544337.2:c.1615A>C, XM_011544337.1:c.1615A>C, XM_011544338.4:c.1615A>C, XM_011544338.3:c.1615A>C, XM_011544338.2:c.1615A>C, XM_011544338.1:c.1615A>C, XM_011544339.4:c.1615A>C, XM_011544339.3:c.1615A>C, XM_011544339.2:c.1615A>C, XM_011544339.1:c.1615A>C, XM_011544340.4:c.1615A>C, XM_011544340.3:c.1615A>C, XM_011544340.2:c.1615A>C, XM_011544340.1:c.1615A>C, XM_011544341.4:c.1429A>C, XM_011544341.3:c.1429A>C, XM_011544341.2:c.1429A>C, XM_011544341.1:c.1429A>C, XM_011544342.4:c.1615A>C, XM_011544342.3:c.1615A>C, XM_011544342.2:c.1615A>C, XM_011544342.1:c.1615A>C, XM_011544343.4:c.1138A>C, XM_011544343.3:c.1138A>C, XM_011544343.2:c.1138A>C, XM_011544343.1:c.1138A>C, XM_011544336.3:c.1615A>C, XM_011544336.2:c.1615A>C, XM_011544336.1:c.1615A>C, XM_017002935.3:c.1429A>C, XM_017002935.2:c.1429A>C, XM_017002935.1:c.1429A>C, XM_017002937.3:c.1429A>C, XM_017002937.2:c.1429A>C, XM_017002937.1:c.1429A>C, XM_017002938.3:c.1429A>C, XM_017002938.2:c.1429A>C, XM_017002938.1:c.1429A>C, XM_017002942.3:c.1429A>C, XM_017002942.2:c.1429A>C, XM_017002942.1:c.1429A>C, XM_017002946.3:c.952A>C, XM_017002946.2:c.952A>C, XM_017002946.1:c.952A>C, XM_017002932.2:c.1615A>C, XM_017002932.1:c.1615A>C, XM_047435483.1:c.1615A>C, XM_047435495.1:c.1615A>C, NP_055627.2:p.Lys477Gln, XP_006711906.1:p.Lys539Gln, XP_011542637.1:p.Lys539Gln, XP_011542636.1:p.Lys539Gln, XP_011542639.1:p.Lys539Gln, XP_011542640.1:p.Lys539Gln, XP_011542641.1:p.Lys539Gln, XP_011542642.1:p.Lys539Gln, XP_011542643.1:p.Lys477Gln, XP_011542644.1:p.Lys539Gln, XP_011542645.1:p.Lys380Gln, XP_011542638.1:p.Lys539Gln, XP_016858424.1:p.Lys477Gln, XP_016858426.1:p.Lys477Gln, XP_016858427.1:p.Lys477Gln, XP_016858431.1:p.Lys477Gln, XP_016858435.1:p.Lys318Gln, XP_016858421.1:p.Lys539Gln, XP_047291439.1:p.Lys539Gln, XP_047291451.1:p.Lys539Gln

        4.

        rs1489010109 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:243156322 (GRCh38)
          1:243319624 (GRCh37)
          Canonical SPDI:
          NC_000001.11:243156321:G:A
          Gene:
          CEP170 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000005/1 (GnomAD_exomes)
          A=0.000015/4 (TOPMED)
          A=0.000035/1 (TOMMO)
          HGVS:
          NC_000001.11:g.243156322G>A, NC_000001.10:g.243319624G>A, NG_029663.2:g.104085C>T, NM_014812.3:c.3810C>T, NM_014812.2:c.3810C>T, NM_001042404.2:c.3516C>T, NM_001042404.1:c.3516C>T, NM_001042405.2:c.3408C>T, NM_001042405.1:c.3408C>T, NT_187519.1:g.168430G>A, XM_006711843.5:c.3996C>T, XM_006711843.4:c.3996C>T, XM_006711843.3:c.3996C>T, XM_006711843.2:c.3996C>T, XM_006711843.1:c.3996C>T, XM_011544335.4:c.3996C>T, XM_011544335.3:c.3996C>T, XM_011544335.2:c.3996C>T, XM_011544335.1:c.3996C>T, XM_011544334.4:c.3996C>T, XM_011544334.3:c.3996C>T, XM_011544334.2:c.3996C>T, XM_011544334.1:c.3996C>T, XM_011544337.4:c.3996C>T, XM_011544337.3:c.3996C>T, XM_011544337.2:c.3996C>T, XM_011544337.1:c.3996C>T, XM_011544338.4:c.3996C>T, XM_011544338.3:c.3996C>T, XM_011544338.2:c.3996C>T, XM_011544338.1:c.3996C>T, XM_011544339.4:c.3888C>T, XM_011544339.3:c.3888C>T, XM_011544339.2:c.3888C>T, XM_011544339.1:c.3888C>T, XM_011544340.4:c.3888C>T, XM_011544340.3:c.3888C>T, XM_011544340.2:c.3888C>T, XM_011544340.1:c.3888C>T, XM_011544341.4:c.3810C>T, XM_011544341.3:c.3810C>T, XM_011544341.2:c.3810C>T, XM_011544341.1:c.3810C>T, XM_011544342.4:c.3888C>T, XM_011544342.3:c.3888C>T, XM_011544342.2:c.3888C>T, XM_011544342.1:c.3888C>T, XM_011544343.4:c.3519C>T, XM_011544343.3:c.3519C>T, XM_011544343.2:c.3519C>T, XM_011544343.1:c.3519C>T, XM_011544344.4:c.3516C>T, XM_011544344.3:c.3516C>T, XM_011544344.2:c.3516C>T, XM_011544344.1:c.3516C>T, XM_011544336.3:c.3996C>T, XM_011544336.2:c.3996C>T, XM_011544336.1:c.3996C>T, XM_017002935.3:c.3810C>T, XM_017002935.2:c.3810C>T, XM_017002935.1:c.3810C>T, XM_017002937.3:c.3702C>T, XM_017002937.2:c.3702C>T, XM_017002937.1:c.3702C>T, XM_017002938.3:c.3702C>T, XM_017002938.2:c.3702C>T, XM_017002938.1:c.3702C>T, XM_017002942.3:c.3702C>T, XM_017002942.2:c.3702C>T, XM_017002942.1:c.3702C>T, XM_017002945.3:c.3516C>T, XM_017002945.2:c.3516C>T, XM_017002945.1:c.3516C>T, XM_017002947.3:c.3408C>T, XM_017002947.2:c.3408C>T, XM_017002947.1:c.3408C>T, XM_017002946.3:c.3333C>T, XM_017002946.2:c.3333C>T, XM_017002946.1:c.3333C>T, XM_017002949.3:c.3408C>T, XM_017002949.2:c.3408C>T, XM_017002949.1:c.3408C>T, XM_017002951.3:c.3039C>T, XM_017002951.2:c.3039C>T, XM_017002951.1:c.3039C>T, XM_017002932.2:c.3996C>T, XM_017002932.1:c.3996C>T, XM_047435483.1:c.3996C>T, XM_047435495.1:c.3996C>T

          5.

          rs1488709881 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:243164667 (GRCh38)
            1:243327969 (GRCh37)
            Canonical SPDI:
            NC_000001.11:243164666:G:A
            Gene:
            CEP170 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_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_000001.11:g.243164667G>A, NC_000001.10:g.243327969G>A, NG_029663.2:g.95740C>T, NM_014812.3:c.3293C>T, NM_014812.2:c.3293C>T, NM_001042404.2:c.2999C>T, NM_001042404.1:c.2999C>T, NM_001042405.2:c.2999C>T, NM_001042405.1:c.2999C>T, NT_187519.1:g.176775G>A, XM_006711843.5:c.3479C>T, XM_006711843.4:c.3479C>T, XM_006711843.3:c.3479C>T, XM_006711843.2:c.3479C>T, XM_006711843.1:c.3479C>T, XM_011544335.4:c.3479C>T, XM_011544335.3:c.3479C>T, XM_011544335.2:c.3479C>T, XM_011544335.1:c.3479C>T, XM_011544334.4:c.3479C>T, XM_011544334.3:c.3479C>T, XM_011544334.2:c.3479C>T, XM_011544334.1:c.3479C>T, XM_011544337.4:c.3479C>T, XM_011544337.3:c.3479C>T, XM_011544337.2:c.3479C>T, XM_011544337.1:c.3479C>T, XM_011544338.4:c.3479C>T, XM_011544338.3:c.3479C>T, XM_011544338.2:c.3479C>T, XM_011544338.1:c.3479C>T, XM_011544339.4:c.3479C>T, XM_011544339.3:c.3479C>T, XM_011544339.2:c.3479C>T, XM_011544339.1:c.3479C>T, XM_011544340.4:c.3479C>T, XM_011544340.3:c.3479C>T, XM_011544340.2:c.3479C>T, XM_011544340.1:c.3479C>T, XM_011544341.4:c.3293C>T, XM_011544341.3:c.3293C>T, XM_011544341.2:c.3293C>T, XM_011544341.1:c.3293C>T, XM_011544342.4:c.3479C>T, XM_011544342.3:c.3479C>T, XM_011544342.2:c.3479C>T, XM_011544342.1:c.3479C>T, XM_011544343.4:c.3002C>T, XM_011544343.3:c.3002C>T, XM_011544343.2:c.3002C>T, XM_011544343.1:c.3002C>T, XM_011544344.4:c.2999C>T, XM_011544344.3:c.2999C>T, XM_011544344.2:c.2999C>T, XM_011544344.1:c.2999C>T, XM_011544336.3:c.3479C>T, XM_011544336.2:c.3479C>T, XM_011544336.1:c.3479C>T, XM_017002935.3:c.3293C>T, XM_017002935.2:c.3293C>T, XM_017002935.1:c.3293C>T, XM_017002937.3:c.3293C>T, XM_017002937.2:c.3293C>T, XM_017002937.1:c.3293C>T, XM_017002938.3:c.3293C>T, XM_017002938.2:c.3293C>T, XM_017002938.1:c.3293C>T, XM_017002942.3:c.3293C>T, XM_017002942.2:c.3293C>T, XM_017002942.1:c.3293C>T, XM_017002945.3:c.2999C>T, XM_017002945.2:c.2999C>T, XM_017002945.1:c.2999C>T, XM_017002947.3:c.2999C>T, XM_017002947.2:c.2999C>T, XM_017002947.1:c.2999C>T, XM_017002946.3:c.2816C>T, XM_017002946.2:c.2816C>T, XM_017002946.1:c.2816C>T, XM_017002949.3:c.2999C>T, XM_017002949.2:c.2999C>T, XM_017002949.1:c.2999C>T, XM_017002951.3:c.2522C>T, XM_017002951.2:c.2522C>T, XM_017002951.1:c.2522C>T, XM_017002932.2:c.3479C>T, XM_017002932.1:c.3479C>T, XM_047435483.1:c.3479C>T, XM_047435495.1:c.3479C>T, NP_055627.2:p.Thr1098Ile, NP_001035863.1:p.Thr1000Ile, NP_001035864.1:p.Thr1000Ile, XP_006711906.1:p.Thr1160Ile, XP_011542637.1:p.Thr1160Ile, XP_011542636.1:p.Thr1160Ile, XP_011542639.1:p.Thr1160Ile, XP_011542640.1:p.Thr1160Ile, XP_011542641.1:p.Thr1160Ile, XP_011542642.1:p.Thr1160Ile, XP_011542643.1:p.Thr1098Ile, XP_011542644.1:p.Thr1160Ile, XP_011542645.1:p.Thr1001Ile, XP_011542646.1:p.Thr1000Ile, XP_011542638.1:p.Thr1160Ile, XP_016858424.1:p.Thr1098Ile, XP_016858426.1:p.Thr1098Ile, XP_016858427.1:p.Thr1098Ile, XP_016858431.1:p.Thr1098Ile, XP_016858434.1:p.Thr1000Ile, XP_016858436.1:p.Thr1000Ile, XP_016858435.1:p.Thr939Ile, XP_016858438.1:p.Thr1000Ile, XP_016858440.1:p.Thr841Ile, XP_016858421.1:p.Thr1160Ile, XP_047291439.1:p.Thr1160Ile, XP_047291451.1:p.Thr1160Ile

            6.

            rs1488638122 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              1:243165149 (GRCh38)
              1:243328451 (GRCh37)
              Canonical SPDI:
              NC_000001.11:243165148:T:G
              Gene:
              CEP170 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000001.11:g.243165149T>G, NC_000001.10:g.243328451T>G, NG_029663.2:g.95258A>C, NM_014812.3:c.2811A>C, NM_014812.2:c.2811A>C, NM_001042404.2:c.2517A>C, NM_001042404.1:c.2517A>C, NM_001042405.2:c.2517A>C, NM_001042405.1:c.2517A>C, NT_187519.1:g.177257T>G, XM_006711843.5:c.2997A>C, XM_006711843.4:c.2997A>C, XM_006711843.3:c.2997A>C, XM_006711843.2:c.2997A>C, XM_006711843.1:c.2997A>C, XM_011544335.4:c.2997A>C, XM_011544335.3:c.2997A>C, XM_011544335.2:c.2997A>C, XM_011544335.1:c.2997A>C, XM_011544334.4:c.2997A>C, XM_011544334.3:c.2997A>C, XM_011544334.2:c.2997A>C, XM_011544334.1:c.2997A>C, XM_011544337.4:c.2997A>C, XM_011544337.3:c.2997A>C, XM_011544337.2:c.2997A>C, XM_011544337.1:c.2997A>C, XM_011544338.4:c.2997A>C, XM_011544338.3:c.2997A>C, XM_011544338.2:c.2997A>C, XM_011544338.1:c.2997A>C, XM_011544339.4:c.2997A>C, XM_011544339.3:c.2997A>C, XM_011544339.2:c.2997A>C, XM_011544339.1:c.2997A>C, XM_011544340.4:c.2997A>C, XM_011544340.3:c.2997A>C, XM_011544340.2:c.2997A>C, XM_011544340.1:c.2997A>C, XM_011544341.4:c.2811A>C, XM_011544341.3:c.2811A>C, XM_011544341.2:c.2811A>C, XM_011544341.1:c.2811A>C, XM_011544342.4:c.2997A>C, XM_011544342.3:c.2997A>C, XM_011544342.2:c.2997A>C, XM_011544342.1:c.2997A>C, XM_011544343.4:c.2520A>C, XM_011544343.3:c.2520A>C, XM_011544343.2:c.2520A>C, XM_011544343.1:c.2520A>C, XM_011544344.4:c.2517A>C, XM_011544344.3:c.2517A>C, XM_011544344.2:c.2517A>C, XM_011544344.1:c.2517A>C, XM_011544336.3:c.2997A>C, XM_011544336.2:c.2997A>C, XM_011544336.1:c.2997A>C, XM_017002935.3:c.2811A>C, XM_017002935.2:c.2811A>C, XM_017002935.1:c.2811A>C, XM_017002937.3:c.2811A>C, XM_017002937.2:c.2811A>C, XM_017002937.1:c.2811A>C, XM_017002938.3:c.2811A>C, XM_017002938.2:c.2811A>C, XM_017002938.1:c.2811A>C, XM_017002942.3:c.2811A>C, XM_017002942.2:c.2811A>C, XM_017002942.1:c.2811A>C, XM_017002945.3:c.2517A>C, XM_017002945.2:c.2517A>C, XM_017002945.1:c.2517A>C, XM_017002947.3:c.2517A>C, XM_017002947.2:c.2517A>C, XM_017002947.1:c.2517A>C, XM_017002946.3:c.2334A>C, XM_017002946.2:c.2334A>C, XM_017002946.1:c.2334A>C, XM_017002949.3:c.2517A>C, XM_017002949.2:c.2517A>C, XM_017002949.1:c.2517A>C, XM_017002951.3:c.2040A>C, XM_017002951.2:c.2040A>C, XM_017002951.1:c.2040A>C, XM_017002932.2:c.2997A>C, XM_017002932.1:c.2997A>C, XM_047435483.1:c.2997A>C, XM_047435495.1:c.2997A>C

              7.

              rs1488547698 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                1:243140020 (GRCh38)
                1:243303322 (GRCh37)
                Canonical SPDI:
                NC_000001.11:243140019:G:T
                Gene:
                CEP170 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.243140020G>T, NC_000001.10:g.243303322G>T, NG_029663.2:g.120387C>A, NM_014812.3:c.4147C>A, NM_014812.2:c.4147C>A, NM_001042404.2:c.3853C>A, NM_001042404.1:c.3853C>A, NM_001042405.2:c.3775C>A, NM_001042405.1:c.3775C>A, NT_187519.1:g.152128G>T, XM_006711843.5:c.4363C>A, XM_006711843.4:c.4363C>A, XM_006711843.3:c.4363C>A, XM_006711843.2:c.4363C>A, XM_006711843.1:c.4363C>A, XM_011544335.4:c.4363C>A, XM_011544335.3:c.4363C>A, XM_011544335.2:c.4363C>A, XM_011544335.1:c.4363C>A, XM_011544334.4:c.4363C>A, XM_011544334.3:c.4363C>A, XM_011544334.2:c.4363C>A, XM_011544334.1:c.4363C>A, XM_011544337.4:c.4333C>A, XM_011544337.3:c.4333C>A, XM_011544337.2:c.4333C>A, XM_011544337.1:c.4333C>A, XM_011544338.4:c.4282C>A, XM_011544338.3:c.4282C>A, XM_011544338.2:c.4282C>A, XM_011544338.1:c.4282C>A, XM_011544339.4:c.4255C>A, XM_011544339.3:c.4255C>A, XM_011544339.2:c.4255C>A, XM_011544339.1:c.4255C>A, XM_011544340.4:c.4225C>A, XM_011544340.3:c.4225C>A, XM_011544340.2:c.4225C>A, XM_011544340.1:c.4225C>A, XM_011544341.4:c.4177C>A, XM_011544341.3:c.4177C>A, XM_011544341.2:c.4177C>A, XM_011544341.1:c.4177C>A, XM_011544342.4:c.4174C>A, XM_011544342.3:c.4174C>A, XM_011544342.2:c.4174C>A, XM_011544342.1:c.4174C>A, XM_011544343.4:c.3886C>A, XM_011544343.3:c.3886C>A, XM_011544343.2:c.3886C>A, XM_011544343.1:c.3886C>A, XM_011544344.4:c.3883C>A, XM_011544344.3:c.3883C>A, XM_011544344.2:c.3883C>A, XM_011544344.1:c.3883C>A, XM_011544336.3:c.4363C>A, XM_011544336.2:c.4363C>A, XM_011544336.1:c.4363C>A, XM_017002935.3:c.4096C>A, XM_017002935.2:c.4096C>A, XM_017002935.1:c.4096C>A, XM_017002937.3:c.4069C>A, XM_017002937.2:c.4069C>A, XM_017002937.1:c.4069C>A, XM_017002938.3:c.4039C>A, XM_017002938.2:c.4039C>A, XM_017002938.1:c.4039C>A, XM_017002942.3:c.3988C>A, XM_017002942.2:c.3988C>A, XM_017002942.1:c.3988C>A, XM_017002945.3:c.3802C>A, XM_017002945.2:c.3802C>A, XM_017002945.1:c.3802C>A, XM_017002947.3:c.3745C>A, XM_017002947.2:c.3745C>A, XM_017002947.1:c.3745C>A, XM_017002946.3:c.3700C>A, XM_017002946.2:c.3700C>A, XM_017002946.1:c.3700C>A, XM_017002949.3:c.3694C>A, XM_017002949.2:c.3694C>A, XM_017002949.1:c.3694C>A, XM_017002951.3:c.3406C>A, XM_017002951.2:c.3406C>A, XM_017002951.1:c.3406C>A, XM_017002932.2:c.4363C>A, XM_017002932.1:c.4363C>A, XM_047435483.1:c.4363C>A, XM_047435495.1:c.4363C>A

                8.

                rs1488475467 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:243165992 (GRCh38)
                  1:243329294 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:243165991:C:T
                  Gene:
                  CEP170 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000001.11:g.243165992C>T, NC_000001.10:g.243329294C>T, NG_029663.2:g.94415G>A, NM_014812.3:c.1968G>A, NM_014812.2:c.1968G>A, NM_001042404.2:c.1674G>A, NM_001042404.1:c.1674G>A, NM_001042405.2:c.1674G>A, NM_001042405.1:c.1674G>A, NT_187519.1:g.178100C>T, XM_006711843.5:c.2154G>A, XM_006711843.4:c.2154G>A, XM_006711843.3:c.2154G>A, XM_006711843.2:c.2154G>A, XM_006711843.1:c.2154G>A, XM_011544335.4:c.2154G>A, XM_011544335.3:c.2154G>A, XM_011544335.2:c.2154G>A, XM_011544335.1:c.2154G>A, XM_011544334.4:c.2154G>A, XM_011544334.3:c.2154G>A, XM_011544334.2:c.2154G>A, XM_011544334.1:c.2154G>A, XM_011544337.4:c.2154G>A, XM_011544337.3:c.2154G>A, XM_011544337.2:c.2154G>A, XM_011544337.1:c.2154G>A, XM_011544338.4:c.2154G>A, XM_011544338.3:c.2154G>A, XM_011544338.2:c.2154G>A, XM_011544338.1:c.2154G>A, XM_011544339.4:c.2154G>A, XM_011544339.3:c.2154G>A, XM_011544339.2:c.2154G>A, XM_011544339.1:c.2154G>A, XM_011544340.4:c.2154G>A, XM_011544340.3:c.2154G>A, XM_011544340.2:c.2154G>A, XM_011544340.1:c.2154G>A, XM_011544341.4:c.1968G>A, XM_011544341.3:c.1968G>A, XM_011544341.2:c.1968G>A, XM_011544341.1:c.1968G>A, XM_011544342.4:c.2154G>A, XM_011544342.3:c.2154G>A, XM_011544342.2:c.2154G>A, XM_011544342.1:c.2154G>A, XM_011544343.4:c.1677G>A, XM_011544343.3:c.1677G>A, XM_011544343.2:c.1677G>A, XM_011544343.1:c.1677G>A, XM_011544344.4:c.1674G>A, XM_011544344.3:c.1674G>A, XM_011544344.2:c.1674G>A, XM_011544344.1:c.1674G>A, XM_011544336.3:c.2154G>A, XM_011544336.2:c.2154G>A, XM_011544336.1:c.2154G>A, XM_017002935.3:c.1968G>A, XM_017002935.2:c.1968G>A, XM_017002935.1:c.1968G>A, XM_017002937.3:c.1968G>A, XM_017002937.2:c.1968G>A, XM_017002937.1:c.1968G>A, XM_017002938.3:c.1968G>A, XM_017002938.2:c.1968G>A, XM_017002938.1:c.1968G>A, XM_017002942.3:c.1968G>A, XM_017002942.2:c.1968G>A, XM_017002942.1:c.1968G>A, XM_017002945.3:c.1674G>A, XM_017002945.2:c.1674G>A, XM_017002945.1:c.1674G>A, XM_017002947.3:c.1674G>A, XM_017002947.2:c.1674G>A, XM_017002947.1:c.1674G>A, XM_017002946.3:c.1491G>A, XM_017002946.2:c.1491G>A, XM_017002946.1:c.1491G>A, XM_017002949.3:c.1674G>A, XM_017002949.2:c.1674G>A, XM_017002949.1:c.1674G>A, XM_017002951.3:c.1197G>A, XM_017002951.2:c.1197G>A, XM_017002951.1:c.1197G>A, XM_017002932.2:c.2154G>A, XM_017002932.1:c.2154G>A, XM_047435483.1:c.2154G>A, XM_047435495.1:c.2154G>A

                  9.

                  rs1488074622 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:243140045 (GRCh38)
                    1:243303347 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:243140044:G:A
                    Gene:
                    CEP170 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000001.11:g.243140045G>A, NC_000001.10:g.243303347G>A, NG_029663.2:g.120362C>T, NM_014812.3:c.4122C>T, NM_014812.2:c.4122C>T, NM_001042404.2:c.3828C>T, NM_001042404.1:c.3828C>T, NM_001042405.2:c.3750C>T, NM_001042405.1:c.3750C>T, NT_187519.1:g.152153G>A, XM_006711843.5:c.4338C>T, XM_006711843.4:c.4338C>T, XM_006711843.3:c.4338C>T, XM_006711843.2:c.4338C>T, XM_006711843.1:c.4338C>T, XM_011544335.4:c.4338C>T, XM_011544335.3:c.4338C>T, XM_011544335.2:c.4338C>T, XM_011544335.1:c.4338C>T, XM_011544334.4:c.4338C>T, XM_011544334.3:c.4338C>T, XM_011544334.2:c.4338C>T, XM_011544334.1:c.4338C>T, XM_011544337.4:c.4308C>T, XM_011544337.3:c.4308C>T, XM_011544337.2:c.4308C>T, XM_011544337.1:c.4308C>T, XM_011544338.4:c.4257C>T, XM_011544338.3:c.4257C>T, XM_011544338.2:c.4257C>T, XM_011544338.1:c.4257C>T, XM_011544339.4:c.4230C>T, XM_011544339.3:c.4230C>T, XM_011544339.2:c.4230C>T, XM_011544339.1:c.4230C>T, XM_011544340.4:c.4200C>T, XM_011544340.3:c.4200C>T, XM_011544340.2:c.4200C>T, XM_011544340.1:c.4200C>T, XM_011544341.4:c.4152C>T, XM_011544341.3:c.4152C>T, XM_011544341.2:c.4152C>T, XM_011544341.1:c.4152C>T, XM_011544342.4:c.4149C>T, XM_011544342.3:c.4149C>T, XM_011544342.2:c.4149C>T, XM_011544342.1:c.4149C>T, XM_011544343.4:c.3861C>T, XM_011544343.3:c.3861C>T, XM_011544343.2:c.3861C>T, XM_011544343.1:c.3861C>T, XM_011544344.4:c.3858C>T, XM_011544344.3:c.3858C>T, XM_011544344.2:c.3858C>T, XM_011544344.1:c.3858C>T, XM_011544336.3:c.4338C>T, XM_011544336.2:c.4338C>T, XM_011544336.1:c.4338C>T, XM_017002935.3:c.4071C>T, XM_017002935.2:c.4071C>T, XM_017002935.1:c.4071C>T, XM_017002937.3:c.4044C>T, XM_017002937.2:c.4044C>T, XM_017002937.1:c.4044C>T, XM_017002938.3:c.4014C>T, XM_017002938.2:c.4014C>T, XM_017002938.1:c.4014C>T, XM_017002942.3:c.3963C>T, XM_017002942.2:c.3963C>T, XM_017002942.1:c.3963C>T, XM_017002945.3:c.3777C>T, XM_017002945.2:c.3777C>T, XM_017002945.1:c.3777C>T, XM_017002947.3:c.3720C>T, XM_017002947.2:c.3720C>T, XM_017002947.1:c.3720C>T, XM_017002946.3:c.3675C>T, XM_017002946.2:c.3675C>T, XM_017002946.1:c.3675C>T, XM_017002949.3:c.3669C>T, XM_017002949.2:c.3669C>T, XM_017002949.1:c.3669C>T, XM_017002951.3:c.3381C>T, XM_017002951.2:c.3381C>T, XM_017002951.1:c.3381C>T, XM_017002932.2:c.4338C>T, XM_017002932.1:c.4338C>T, XM_047435483.1:c.4338C>T, XM_047435495.1:c.4338C>T

                    10.

                    rs1487894701 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      1:243126565 (GRCh38)
                      1:243289867 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:243126564:C:G
                      Gene:
                      CEP170 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.243126565C>G, NC_000001.10:g.243289867C>G, NG_029663.2:g.133842G>C, NM_014812.3:c.4639G>C, NM_014812.2:c.4639G>C, NM_001042404.2:c.4345G>C, NM_001042404.1:c.4345G>C, NM_001042405.2:c.4267G>C, NM_001042405.1:c.4267G>C, NT_187519.1:g.138673C>G, XM_006711843.5:c.4855G>C, XM_006711843.4:c.4855G>C, XM_006711843.3:c.4855G>C, XM_006711843.2:c.4855G>C, XM_006711843.1:c.4855G>C, XM_011544335.4:c.4855G>C, XM_011544335.3:c.4855G>C, XM_011544335.2:c.4855G>C, XM_011544335.1:c.4855G>C, XM_011544334.4:c.4855G>C, XM_011544334.3:c.4855G>C, XM_011544334.2:c.4855G>C, XM_011544334.1:c.4855G>C, XM_011544337.4:c.4825G>C, XM_011544337.3:c.4825G>C, XM_011544337.2:c.4825G>C, XM_011544337.1:c.4825G>C, XM_011544338.4:c.4774G>C, XM_011544338.3:c.4774G>C, XM_011544338.2:c.4774G>C, XM_011544338.1:c.4774G>C, XM_011544339.4:c.4747G>C, XM_011544339.3:c.4747G>C, XM_011544339.2:c.4747G>C, XM_011544339.1:c.4747G>C, XM_011544340.4:c.4717G>C, XM_011544340.3:c.4717G>C, XM_011544340.2:c.4717G>C, XM_011544340.1:c.4717G>C, XM_011544341.4:c.4669G>C, XM_011544341.3:c.4669G>C, XM_011544341.2:c.4669G>C, XM_011544341.1:c.4669G>C, XM_011544342.4:c.4666G>C, XM_011544342.3:c.4666G>C, XM_011544342.2:c.4666G>C, XM_011544342.1:c.4666G>C, XM_011544343.4:c.4378G>C, XM_011544343.3:c.4378G>C, XM_011544343.2:c.4378G>C, XM_011544343.1:c.4378G>C, XM_011544344.4:c.4375G>C, XM_011544344.3:c.4375G>C, XM_011544344.2:c.4375G>C, XM_011544344.1:c.4375G>C, XM_011544336.3:c.4855G>C, XM_011544336.2:c.4855G>C, XM_011544336.1:c.4855G>C, XM_017002935.3:c.4588G>C, XM_017002935.2:c.4588G>C, XM_017002935.1:c.4588G>C, XM_017002937.3:c.4561G>C, XM_017002937.2:c.4561G>C, XM_017002937.1:c.4561G>C, XM_017002938.3:c.4531G>C, XM_017002938.2:c.4531G>C, XM_017002938.1:c.4531G>C, XM_017002942.3:c.4480G>C, XM_017002942.2:c.4480G>C, XM_017002942.1:c.4480G>C, XM_017002945.3:c.4294G>C, XM_017002945.2:c.4294G>C, XM_017002945.1:c.4294G>C, XM_017002947.3:c.4237G>C, XM_017002947.2:c.4237G>C, XM_017002947.1:c.4237G>C, XM_017002946.3:c.4192G>C, XM_017002946.2:c.4192G>C, XM_017002946.1:c.4192G>C, XM_017002949.3:c.4186G>C, XM_017002949.2:c.4186G>C, XM_017002949.1:c.4186G>C, XM_017002951.3:c.3898G>C, XM_017002951.2:c.3898G>C, XM_017002951.1:c.3898G>C, XM_017002932.2:c.4855G>C, XM_017002932.1:c.4855G>C, XM_047435483.1:c.4855G>C, XM_047435495.1:c.4855G>C, NP_055627.2:p.Ala1547Pro, NP_001035863.1:p.Ala1449Pro, NP_001035864.1:p.Ala1423Pro, XP_006711906.1:p.Ala1619Pro, XP_011542637.1:p.Ala1619Pro, XP_011542636.1:p.Ala1619Pro, XP_011542639.1:p.Ala1609Pro, XP_011542640.1:p.Ala1592Pro, XP_011542641.1:p.Ala1583Pro, XP_011542642.1:p.Ala1573Pro, XP_011542643.1:p.Ala1557Pro, XP_011542644.1:p.Ala1556Pro, XP_011542645.1:p.Ala1460Pro, XP_011542646.1:p.Ala1459Pro, XP_011542638.1:p.Ala1619Pro, XP_016858424.1:p.Ala1530Pro, XP_016858426.1:p.Ala1521Pro, XP_016858427.1:p.Ala1511Pro, XP_016858431.1:p.Ala1494Pro, XP_016858434.1:p.Ala1432Pro, XP_016858436.1:p.Ala1413Pro, XP_016858435.1:p.Ala1398Pro, XP_016858438.1:p.Ala1396Pro, XP_016858440.1:p.Ala1300Pro, XP_016858421.1:p.Ala1619Pro, XP_047291439.1:p.Ala1619Pro, XP_047291451.1:p.Ala1619Pro

                      11.

                      rs1486610841 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:243165334 (GRCh38)
                        1:243328636 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:243165333:G:A
                        Gene:
                        CEP170 (Varview)
                        Functional Consequence:
                        stop_gained,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.243165334G>A, NC_000001.10:g.243328636G>A, NG_029663.2:g.95073C>T, NM_014812.3:c.2626C>T, NM_014812.2:c.2626C>T, NM_001042404.2:c.2332C>T, NM_001042404.1:c.2332C>T, NM_001042405.2:c.2332C>T, NM_001042405.1:c.2332C>T, NT_187519.1:g.177442G>A, XM_006711843.5:c.2812C>T, XM_006711843.4:c.2812C>T, XM_006711843.3:c.2812C>T, XM_006711843.2:c.2812C>T, XM_006711843.1:c.2812C>T, XM_011544335.4:c.2812C>T, XM_011544335.3:c.2812C>T, XM_011544335.2:c.2812C>T, XM_011544335.1:c.2812C>T, XM_011544334.4:c.2812C>T, XM_011544334.3:c.2812C>T, XM_011544334.2:c.2812C>T, XM_011544334.1:c.2812C>T, XM_011544337.4:c.2812C>T, XM_011544337.3:c.2812C>T, XM_011544337.2:c.2812C>T, XM_011544337.1:c.2812C>T, XM_011544338.4:c.2812C>T, XM_011544338.3:c.2812C>T, XM_011544338.2:c.2812C>T, XM_011544338.1:c.2812C>T, XM_011544339.4:c.2812C>T, XM_011544339.3:c.2812C>T, XM_011544339.2:c.2812C>T, XM_011544339.1:c.2812C>T, XM_011544340.4:c.2812C>T, XM_011544340.3:c.2812C>T, XM_011544340.2:c.2812C>T, XM_011544340.1:c.2812C>T, XM_011544341.4:c.2626C>T, XM_011544341.3:c.2626C>T, XM_011544341.2:c.2626C>T, XM_011544341.1:c.2626C>T, XM_011544342.4:c.2812C>T, XM_011544342.3:c.2812C>T, XM_011544342.2:c.2812C>T, XM_011544342.1:c.2812C>T, XM_011544343.4:c.2335C>T, XM_011544343.3:c.2335C>T, XM_011544343.2:c.2335C>T, XM_011544343.1:c.2335C>T, XM_011544344.4:c.2332C>T, XM_011544344.3:c.2332C>T, XM_011544344.2:c.2332C>T, XM_011544344.1:c.2332C>T, XM_011544336.3:c.2812C>T, XM_011544336.2:c.2812C>T, XM_011544336.1:c.2812C>T, XM_017002935.3:c.2626C>T, XM_017002935.2:c.2626C>T, XM_017002935.1:c.2626C>T, XM_017002937.3:c.2626C>T, XM_017002937.2:c.2626C>T, XM_017002937.1:c.2626C>T, XM_017002938.3:c.2626C>T, XM_017002938.2:c.2626C>T, XM_017002938.1:c.2626C>T, XM_017002942.3:c.2626C>T, XM_017002942.2:c.2626C>T, XM_017002942.1:c.2626C>T, XM_017002945.3:c.2332C>T, XM_017002945.2:c.2332C>T, XM_017002945.1:c.2332C>T, XM_017002947.3:c.2332C>T, XM_017002947.2:c.2332C>T, XM_017002947.1:c.2332C>T, XM_017002946.3:c.2149C>T, XM_017002946.2:c.2149C>T, XM_017002946.1:c.2149C>T, XM_017002949.3:c.2332C>T, XM_017002949.2:c.2332C>T, XM_017002949.1:c.2332C>T, XM_017002951.3:c.1855C>T, XM_017002951.2:c.1855C>T, XM_017002951.1:c.1855C>T, XM_017002932.2:c.2812C>T, XM_017002932.1:c.2812C>T, XM_047435483.1:c.2812C>T, XM_047435495.1:c.2812C>T, NP_055627.2:p.Arg876Ter, NP_001035863.1:p.Arg778Ter, NP_001035864.1:p.Arg778Ter, XP_006711906.1:p.Arg938Ter, XP_011542637.1:p.Arg938Ter, XP_011542636.1:p.Arg938Ter, XP_011542639.1:p.Arg938Ter, XP_011542640.1:p.Arg938Ter, XP_011542641.1:p.Arg938Ter, XP_011542642.1:p.Arg938Ter, XP_011542643.1:p.Arg876Ter, XP_011542644.1:p.Arg938Ter, XP_011542645.1:p.Arg779Ter, XP_011542646.1:p.Arg778Ter, XP_011542638.1:p.Arg938Ter, XP_016858424.1:p.Arg876Ter, XP_016858426.1:p.Arg876Ter, XP_016858427.1:p.Arg876Ter, XP_016858431.1:p.Arg876Ter, XP_016858434.1:p.Arg778Ter, XP_016858436.1:p.Arg778Ter, XP_016858435.1:p.Arg717Ter, XP_016858438.1:p.Arg778Ter, XP_016858440.1:p.Arg619Ter, XP_016858421.1:p.Arg938Ter, XP_047291439.1:p.Arg938Ter, XP_047291451.1:p.Arg938Ter

                        12.

                        rs1484944095 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:243156268 (GRCh38)
                          1:243319570 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:243156267:C:T
                          Gene:
                          CEP170 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          HGVS:
                          NC_000001.11:g.243156268C>T, NC_000001.10:g.243319570C>T, NG_029663.2:g.104139G>A, NM_014812.3:c.3864G>A, NM_014812.2:c.3864G>A, NM_001042404.2:c.3570G>A, NM_001042404.1:c.3570G>A, NM_001042405.2:c.3462G>A, NM_001042405.1:c.3462G>A, NT_187519.1:g.168376C>T, XM_006711843.5:c.4050G>A, XM_006711843.4:c.4050G>A, XM_006711843.3:c.4050G>A, XM_006711843.2:c.4050G>A, XM_006711843.1:c.4050G>A, XM_011544335.4:c.4050G>A, XM_011544335.3:c.4050G>A, XM_011544335.2:c.4050G>A, XM_011544335.1:c.4050G>A, XM_011544334.4:c.4050G>A, XM_011544334.3:c.4050G>A, XM_011544334.2:c.4050G>A, XM_011544334.1:c.4050G>A, XM_011544337.4:c.4050G>A, XM_011544337.3:c.4050G>A, XM_011544337.2:c.4050G>A, XM_011544337.1:c.4050G>A, XM_011544338.4:c.4050G>A, XM_011544338.3:c.4050G>A, XM_011544338.2:c.4050G>A, XM_011544338.1:c.4050G>A, XM_011544339.4:c.3942G>A, XM_011544339.3:c.3942G>A, XM_011544339.2:c.3942G>A, XM_011544339.1:c.3942G>A, XM_011544340.4:c.3942G>A, XM_011544340.3:c.3942G>A, XM_011544340.2:c.3942G>A, XM_011544340.1:c.3942G>A, XM_011544341.4:c.3864G>A, XM_011544341.3:c.3864G>A, XM_011544341.2:c.3864G>A, XM_011544341.1:c.3864G>A, XM_011544342.4:c.3942G>A, XM_011544342.3:c.3942G>A, XM_011544342.2:c.3942G>A, XM_011544342.1:c.3942G>A, XM_011544343.4:c.3573G>A, XM_011544343.3:c.3573G>A, XM_011544343.2:c.3573G>A, XM_011544343.1:c.3573G>A, XM_011544344.4:c.3570G>A, XM_011544344.3:c.3570G>A, XM_011544344.2:c.3570G>A, XM_011544344.1:c.3570G>A, XM_011544336.3:c.4050G>A, XM_011544336.2:c.4050G>A, XM_011544336.1:c.4050G>A, XM_017002935.3:c.3864G>A, XM_017002935.2:c.3864G>A, XM_017002935.1:c.3864G>A, XM_017002937.3:c.3756G>A, XM_017002937.2:c.3756G>A, XM_017002937.1:c.3756G>A, XM_017002938.3:c.3756G>A, XM_017002938.2:c.3756G>A, XM_017002938.1:c.3756G>A, XM_017002942.3:c.3756G>A, XM_017002942.2:c.3756G>A, XM_017002942.1:c.3756G>A, XM_017002945.3:c.3570G>A, XM_017002945.2:c.3570G>A, XM_017002945.1:c.3570G>A, XM_017002947.3:c.3462G>A, XM_017002947.2:c.3462G>A, XM_017002947.1:c.3462G>A, XM_017002946.3:c.3387G>A, XM_017002946.2:c.3387G>A, XM_017002946.1:c.3387G>A, XM_017002949.3:c.3462G>A, XM_017002949.2:c.3462G>A, XM_017002949.1:c.3462G>A, XM_017002951.3:c.3093G>A, XM_017002951.2:c.3093G>A, XM_017002951.1:c.3093G>A, XM_017002932.2:c.4050G>A, XM_017002932.1:c.4050G>A, XM_047435483.1:c.4050G>A, XM_047435495.1:c.4050G>A

                          13.

                          rs1484926424 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:243164546 (GRCh38)
                            1:243327848 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:243164545:G:A
                            Gene:
                            CEP170 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.243164546G>A, NC_000001.10:g.243327848G>A, NG_029663.2:g.95861C>T, NM_014812.3:c.3414C>T, NM_014812.2:c.3414C>T, NM_001042404.2:c.3120C>T, NM_001042404.1:c.3120C>T, NM_001042405.2:c.3120C>T, NM_001042405.1:c.3120C>T, NT_187519.1:g.176654G>A, XM_006711843.5:c.3600C>T, XM_006711843.4:c.3600C>T, XM_006711843.3:c.3600C>T, XM_006711843.2:c.3600C>T, XM_006711843.1:c.3600C>T, XM_011544335.4:c.3600C>T, XM_011544335.3:c.3600C>T, XM_011544335.2:c.3600C>T, XM_011544335.1:c.3600C>T, XM_011544334.4:c.3600C>T, XM_011544334.3:c.3600C>T, XM_011544334.2:c.3600C>T, XM_011544334.1:c.3600C>T, XM_011544337.4:c.3600C>T, XM_011544337.3:c.3600C>T, XM_011544337.2:c.3600C>T, XM_011544337.1:c.3600C>T, XM_011544338.4:c.3600C>T, XM_011544338.3:c.3600C>T, XM_011544338.2:c.3600C>T, XM_011544338.1:c.3600C>T, XM_011544339.4:c.3600C>T, XM_011544339.3:c.3600C>T, XM_011544339.2:c.3600C>T, XM_011544339.1:c.3600C>T, XM_011544340.4:c.3600C>T, XM_011544340.3:c.3600C>T, XM_011544340.2:c.3600C>T, XM_011544340.1:c.3600C>T, XM_011544341.4:c.3414C>T, XM_011544341.3:c.3414C>T, XM_011544341.2:c.3414C>T, XM_011544341.1:c.3414C>T, XM_011544342.4:c.3600C>T, XM_011544342.3:c.3600C>T, XM_011544342.2:c.3600C>T, XM_011544342.1:c.3600C>T, XM_011544343.4:c.3123C>T, XM_011544343.3:c.3123C>T, XM_011544343.2:c.3123C>T, XM_011544343.1:c.3123C>T, XM_011544344.4:c.3120C>T, XM_011544344.3:c.3120C>T, XM_011544344.2:c.3120C>T, XM_011544344.1:c.3120C>T, XM_011544336.3:c.3600C>T, XM_011544336.2:c.3600C>T, XM_011544336.1:c.3600C>T, XM_017002935.3:c.3414C>T, XM_017002935.2:c.3414C>T, XM_017002935.1:c.3414C>T, XM_017002937.3:c.3414C>T, XM_017002937.2:c.3414C>T, XM_017002937.1:c.3414C>T, XM_017002938.3:c.3414C>T, XM_017002938.2:c.3414C>T, XM_017002938.1:c.3414C>T, XM_017002942.3:c.3414C>T, XM_017002942.2:c.3414C>T, XM_017002942.1:c.3414C>T, XM_017002945.3:c.3120C>T, XM_017002945.2:c.3120C>T, XM_017002945.1:c.3120C>T, XM_017002947.3:c.3120C>T, XM_017002947.2:c.3120C>T, XM_017002947.1:c.3120C>T, XM_017002946.3:c.2937C>T, XM_017002946.2:c.2937C>T, XM_017002946.1:c.2937C>T, XM_017002949.3:c.3120C>T, XM_017002949.2:c.3120C>T, XM_017002949.1:c.3120C>T, XM_017002951.3:c.2643C>T, XM_017002951.2:c.2643C>T, XM_017002951.1:c.2643C>T, XM_017002932.2:c.3600C>T, XM_017002932.1:c.3600C>T, XM_047435483.1:c.3600C>T, XM_047435495.1:c.3600C>T

                            14.

                            rs1484422123 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:243164833 (GRCh38)
                              1:243328135 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:243164832:C:T
                              Gene:
                              CEP170 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.243164833C>T, NC_000001.10:g.243328135C>T, NG_029663.2:g.95574G>A, NM_014812.3:c.3127G>A, NM_014812.2:c.3127G>A, NM_001042404.2:c.2833G>A, NM_001042404.1:c.2833G>A, NM_001042405.2:c.2833G>A, NM_001042405.1:c.2833G>A, NT_187519.1:g.176941C>T, XM_006711843.5:c.3313G>A, XM_006711843.4:c.3313G>A, XM_006711843.3:c.3313G>A, XM_006711843.2:c.3313G>A, XM_006711843.1:c.3313G>A, XM_011544335.4:c.3313G>A, XM_011544335.3:c.3313G>A, XM_011544335.2:c.3313G>A, XM_011544335.1:c.3313G>A, XM_011544334.4:c.3313G>A, XM_011544334.3:c.3313G>A, XM_011544334.2:c.3313G>A, XM_011544334.1:c.3313G>A, XM_011544337.4:c.3313G>A, XM_011544337.3:c.3313G>A, XM_011544337.2:c.3313G>A, XM_011544337.1:c.3313G>A, XM_011544338.4:c.3313G>A, XM_011544338.3:c.3313G>A, XM_011544338.2:c.3313G>A, XM_011544338.1:c.3313G>A, XM_011544339.4:c.3313G>A, XM_011544339.3:c.3313G>A, XM_011544339.2:c.3313G>A, XM_011544339.1:c.3313G>A, XM_011544340.4:c.3313G>A, XM_011544340.3:c.3313G>A, XM_011544340.2:c.3313G>A, XM_011544340.1:c.3313G>A, XM_011544341.4:c.3127G>A, XM_011544341.3:c.3127G>A, XM_011544341.2:c.3127G>A, XM_011544341.1:c.3127G>A, XM_011544342.4:c.3313G>A, XM_011544342.3:c.3313G>A, XM_011544342.2:c.3313G>A, XM_011544342.1:c.3313G>A, XM_011544343.4:c.2836G>A, XM_011544343.3:c.2836G>A, XM_011544343.2:c.2836G>A, XM_011544343.1:c.2836G>A, XM_011544344.4:c.2833G>A, XM_011544344.3:c.2833G>A, XM_011544344.2:c.2833G>A, XM_011544344.1:c.2833G>A, XM_011544336.3:c.3313G>A, XM_011544336.2:c.3313G>A, XM_011544336.1:c.3313G>A, XM_017002935.3:c.3127G>A, XM_017002935.2:c.3127G>A, XM_017002935.1:c.3127G>A, XM_017002937.3:c.3127G>A, XM_017002937.2:c.3127G>A, XM_017002937.1:c.3127G>A, XM_017002938.3:c.3127G>A, XM_017002938.2:c.3127G>A, XM_017002938.1:c.3127G>A, XM_017002942.3:c.3127G>A, XM_017002942.2:c.3127G>A, XM_017002942.1:c.3127G>A, XM_017002945.3:c.2833G>A, XM_017002945.2:c.2833G>A, XM_017002945.1:c.2833G>A, XM_017002947.3:c.2833G>A, XM_017002947.2:c.2833G>A, XM_017002947.1:c.2833G>A, XM_017002946.3:c.2650G>A, XM_017002946.2:c.2650G>A, XM_017002946.1:c.2650G>A, XM_017002949.3:c.2833G>A, XM_017002949.2:c.2833G>A, XM_017002949.1:c.2833G>A, XM_017002951.3:c.2356G>A, XM_017002951.2:c.2356G>A, XM_017002951.1:c.2356G>A, XM_017002932.2:c.3313G>A, XM_017002932.1:c.3313G>A, XM_047435483.1:c.3313G>A, XM_047435495.1:c.3313G>A, NP_055627.2:p.Asp1043Asn, NP_001035863.1:p.Asp945Asn, NP_001035864.1:p.Asp945Asn, XP_006711906.1:p.Asp1105Asn, XP_011542637.1:p.Asp1105Asn, XP_011542636.1:p.Asp1105Asn, XP_011542639.1:p.Asp1105Asn, XP_011542640.1:p.Asp1105Asn, XP_011542641.1:p.Asp1105Asn, XP_011542642.1:p.Asp1105Asn, XP_011542643.1:p.Asp1043Asn, XP_011542644.1:p.Asp1105Asn, XP_011542645.1:p.Asp946Asn, XP_011542646.1:p.Asp945Asn, XP_011542638.1:p.Asp1105Asn, XP_016858424.1:p.Asp1043Asn, XP_016858426.1:p.Asp1043Asn, XP_016858427.1:p.Asp1043Asn, XP_016858431.1:p.Asp1043Asn, XP_016858434.1:p.Asp945Asn, XP_016858436.1:p.Asp945Asn, XP_016858435.1:p.Asp884Asn, XP_016858438.1:p.Asp945Asn, XP_016858440.1:p.Asp786Asn, XP_016858421.1:p.Asp1105Asn, XP_047291439.1:p.Asp1105Asn, XP_047291451.1:p.Asp1105Asn

                              15.

                              rs1484089641 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:243165871 (GRCh38)
                                1:243329173 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:243165870:G:A
                                Gene:
                                CEP170 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.243165871G>A, NC_000001.10:g.243329173G>A, NG_029663.2:g.94536C>T, NM_014812.3:c.2089C>T, NM_014812.2:c.2089C>T, NM_001042404.2:c.1795C>T, NM_001042404.1:c.1795C>T, NM_001042405.2:c.1795C>T, NM_001042405.1:c.1795C>T, NT_187519.1:g.177979G>A, XM_006711843.5:c.2275C>T, XM_006711843.4:c.2275C>T, XM_006711843.3:c.2275C>T, XM_006711843.2:c.2275C>T, XM_006711843.1:c.2275C>T, XM_011544335.4:c.2275C>T, XM_011544335.3:c.2275C>T, XM_011544335.2:c.2275C>T, XM_011544335.1:c.2275C>T, XM_011544334.4:c.2275C>T, XM_011544334.3:c.2275C>T, XM_011544334.2:c.2275C>T, XM_011544334.1:c.2275C>T, XM_011544337.4:c.2275C>T, XM_011544337.3:c.2275C>T, XM_011544337.2:c.2275C>T, XM_011544337.1:c.2275C>T, XM_011544338.4:c.2275C>T, XM_011544338.3:c.2275C>T, XM_011544338.2:c.2275C>T, XM_011544338.1:c.2275C>T, XM_011544339.4:c.2275C>T, XM_011544339.3:c.2275C>T, XM_011544339.2:c.2275C>T, XM_011544339.1:c.2275C>T, XM_011544340.4:c.2275C>T, XM_011544340.3:c.2275C>T, XM_011544340.2:c.2275C>T, XM_011544340.1:c.2275C>T, XM_011544341.4:c.2089C>T, XM_011544341.3:c.2089C>T, XM_011544341.2:c.2089C>T, XM_011544341.1:c.2089C>T, XM_011544342.4:c.2275C>T, XM_011544342.3:c.2275C>T, XM_011544342.2:c.2275C>T, XM_011544342.1:c.2275C>T, XM_011544343.4:c.1798C>T, XM_011544343.3:c.1798C>T, XM_011544343.2:c.1798C>T, XM_011544343.1:c.1798C>T, XM_011544344.4:c.1795C>T, XM_011544344.3:c.1795C>T, XM_011544344.2:c.1795C>T, XM_011544344.1:c.1795C>T, XM_011544336.3:c.2275C>T, XM_011544336.2:c.2275C>T, XM_011544336.1:c.2275C>T, XM_017002935.3:c.2089C>T, XM_017002935.2:c.2089C>T, XM_017002935.1:c.2089C>T, XM_017002937.3:c.2089C>T, XM_017002937.2:c.2089C>T, XM_017002937.1:c.2089C>T, XM_017002938.3:c.2089C>T, XM_017002938.2:c.2089C>T, XM_017002938.1:c.2089C>T, XM_017002942.3:c.2089C>T, XM_017002942.2:c.2089C>T, XM_017002942.1:c.2089C>T, XM_017002945.3:c.1795C>T, XM_017002945.2:c.1795C>T, XM_017002945.1:c.1795C>T, XM_017002947.3:c.1795C>T, XM_017002947.2:c.1795C>T, XM_017002947.1:c.1795C>T, XM_017002946.3:c.1612C>T, XM_017002946.2:c.1612C>T, XM_017002946.1:c.1612C>T, XM_017002949.3:c.1795C>T, XM_017002949.2:c.1795C>T, XM_017002949.1:c.1795C>T, XM_017002951.3:c.1318C>T, XM_017002951.2:c.1318C>T, XM_017002951.1:c.1318C>T, XM_017002932.2:c.2275C>T, XM_017002932.1:c.2275C>T, XM_047435483.1:c.2275C>T, XM_047435495.1:c.2275C>T, NP_055627.2:p.Pro697Ser, NP_001035863.1:p.Pro599Ser, NP_001035864.1:p.Pro599Ser, XP_006711906.1:p.Pro759Ser, XP_011542637.1:p.Pro759Ser, XP_011542636.1:p.Pro759Ser, XP_011542639.1:p.Pro759Ser, XP_011542640.1:p.Pro759Ser, XP_011542641.1:p.Pro759Ser, XP_011542642.1:p.Pro759Ser, XP_011542643.1:p.Pro697Ser, XP_011542644.1:p.Pro759Ser, XP_011542645.1:p.Pro600Ser, XP_011542646.1:p.Pro599Ser, XP_011542638.1:p.Pro759Ser, XP_016858424.1:p.Pro697Ser, XP_016858426.1:p.Pro697Ser, XP_016858427.1:p.Pro697Ser, XP_016858431.1:p.Pro697Ser, XP_016858434.1:p.Pro599Ser, XP_016858436.1:p.Pro599Ser, XP_016858435.1:p.Pro538Ser, XP_016858438.1:p.Pro599Ser, XP_016858440.1:p.Pro440Ser, XP_016858421.1:p.Pro759Ser, XP_047291439.1:p.Pro759Ser, XP_047291451.1:p.Pro759Ser

                                16.

                                rs1483527350 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:243186138 (GRCh38)
                                  1:243349440 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:243186137:G:A
                                  Gene:
                                  CEP170 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.243186138G>A, NC_000001.10:g.243349440G>A, NG_029663.2:g.74269C>T, NT_187519.1:g.198246G>A, XM_006711843.5:c.1393C>T, XM_006711843.4:c.1393C>T, XM_006711843.3:c.1393C>T, XM_006711843.2:c.1393C>T, XM_006711843.1:c.1393C>T, XM_011544335.4:c.1393C>T, XM_011544335.3:c.1393C>T, XM_011544335.2:c.1393C>T, XM_011544335.1:c.1393C>T, XM_011544334.4:c.1393C>T, XM_011544334.3:c.1393C>T, XM_011544334.2:c.1393C>T, XM_011544334.1:c.1393C>T, XM_011544337.4:c.1393C>T, XM_011544337.3:c.1393C>T, XM_011544337.2:c.1393C>T, XM_011544337.1:c.1393C>T, XM_011544338.4:c.1393C>T, XM_011544338.3:c.1393C>T, XM_011544338.2:c.1393C>T, XM_011544338.1:c.1393C>T, XM_011544339.4:c.1393C>T, XM_011544339.3:c.1393C>T, XM_011544339.2:c.1393C>T, XM_011544339.1:c.1393C>T, XM_011544340.4:c.1393C>T, XM_011544340.3:c.1393C>T, XM_011544340.2:c.1393C>T, XM_011544340.1:c.1393C>T, XM_011544342.4:c.1393C>T, XM_011544342.3:c.1393C>T, XM_011544342.2:c.1393C>T, XM_011544342.1:c.1393C>T, XM_011544343.4:c.916C>T, XM_011544343.3:c.916C>T, XM_011544343.2:c.916C>T, XM_011544343.1:c.916C>T, XM_011544336.3:c.1393C>T, XM_011544336.2:c.1393C>T, XM_011544336.1:c.1393C>T, XM_017002932.2:c.1393C>T, XM_017002932.1:c.1393C>T, XM_047435483.1:c.1393C>T, XM_047435495.1:c.1393C>T, XP_006711906.1:p.His465Tyr, XP_011542637.1:p.His465Tyr, XP_011542636.1:p.His465Tyr, XP_011542639.1:p.His465Tyr, XP_011542640.1:p.His465Tyr, XP_011542641.1:p.His465Tyr, XP_011542642.1:p.His465Tyr, XP_011542644.1:p.His465Tyr, XP_011542645.1:p.His306Tyr, XP_011542638.1:p.His465Tyr, XP_016858421.1:p.His465Tyr, XP_047291439.1:p.His465Tyr, XP_047291451.1:p.His465Tyr

                                  17.

                                  rs1483268761 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:243191335 (GRCh38)
                                    1:243354637 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:243191334:G:A
                                    Gene:
                                    CEP170 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000012/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.243191335G>A, NC_000001.10:g.243354637G>A, NG_029663.2:g.69072C>T, NM_014812.3:c.791C>T, NM_014812.2:c.791C>T, NM_001042404.2:c.791C>T, NM_001042404.1:c.791C>T, NM_001042405.2:c.791C>T, NM_001042405.1:c.791C>T, NT_187519.1:g.203443G>A, XM_006711843.5:c.791C>T, XM_006711843.4:c.791C>T, XM_006711843.3:c.791C>T, XM_006711843.2:c.791C>T, XM_006711843.1:c.791C>T, XM_011544335.4:c.791C>T, XM_011544335.3:c.791C>T, XM_011544335.2:c.791C>T, XM_011544335.1:c.791C>T, XM_011544334.4:c.791C>T, XM_011544334.3:c.791C>T, XM_011544334.2:c.791C>T, XM_011544334.1:c.791C>T, XM_011544337.4:c.791C>T, XM_011544337.3:c.791C>T, XM_011544337.2:c.791C>T, XM_011544337.1:c.791C>T, XM_011544338.4:c.791C>T, XM_011544338.3:c.791C>T, XM_011544338.2:c.791C>T, XM_011544338.1:c.791C>T, XM_011544339.4:c.791C>T, XM_011544339.3:c.791C>T, XM_011544339.2:c.791C>T, XM_011544339.1:c.791C>T, XM_011544340.4:c.791C>T, XM_011544340.3:c.791C>T, XM_011544340.2:c.791C>T, XM_011544340.1:c.791C>T, XM_011544341.4:c.791C>T, XM_011544341.3:c.791C>T, XM_011544341.2:c.791C>T, XM_011544341.1:c.791C>T, XM_011544342.4:c.791C>T, XM_011544342.3:c.791C>T, XM_011544342.2:c.791C>T, XM_011544342.1:c.791C>T, XM_011544344.4:c.791C>T, XM_011544344.3:c.791C>T, XM_011544344.2:c.791C>T, XM_011544344.1:c.791C>T, XM_011544336.3:c.791C>T, XM_011544336.2:c.791C>T, XM_011544336.1:c.791C>T, XM_017002935.3:c.791C>T, XM_017002935.2:c.791C>T, XM_017002935.1:c.791C>T, XM_017002937.3:c.791C>T, XM_017002937.2:c.791C>T, XM_017002937.1:c.791C>T, XM_017002938.3:c.791C>T, XM_017002938.2:c.791C>T, XM_017002938.1:c.791C>T, XM_017002942.3:c.791C>T, XM_017002942.2:c.791C>T, XM_017002942.1:c.791C>T, XM_017002945.3:c.791C>T, XM_017002945.2:c.791C>T, XM_017002945.1:c.791C>T, XM_017002947.3:c.791C>T, XM_017002947.2:c.791C>T, XM_017002947.1:c.791C>T, XM_017002949.3:c.791C>T, XM_017002949.2:c.791C>T, XM_017002949.1:c.791C>T, XM_017002932.2:c.791C>T, XM_017002932.1:c.791C>T, XM_047435483.1:c.791C>T, XM_047435495.1:c.791C>T, NP_055627.2:p.Thr264Ile, NP_001035863.1:p.Thr264Ile, NP_001035864.1:p.Thr264Ile, XP_006711906.1:p.Thr264Ile, XP_011542637.1:p.Thr264Ile, XP_011542636.1:p.Thr264Ile, XP_011542639.1:p.Thr264Ile, XP_011542640.1:p.Thr264Ile, XP_011542641.1:p.Thr264Ile, XP_011542642.1:p.Thr264Ile, XP_011542643.1:p.Thr264Ile, XP_011542644.1:p.Thr264Ile, XP_011542646.1:p.Thr264Ile, XP_011542638.1:p.Thr264Ile, XP_016858424.1:p.Thr264Ile, XP_016858426.1:p.Thr264Ile, XP_016858427.1:p.Thr264Ile, XP_016858431.1:p.Thr264Ile, XP_016858434.1:p.Thr264Ile, XP_016858436.1:p.Thr264Ile, XP_016858438.1:p.Thr264Ile, XP_016858421.1:p.Thr264Ile, XP_047291439.1:p.Thr264Ile, XP_047291451.1:p.Thr264Ile

                                    18.

                                    rs1481356593 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:243186259 (GRCh38)
                                      1:243349561 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:243186258:A:G
                                      Gene:
                                      CEP170 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.243186259A>G, NC_000001.10:g.243349561A>G, NG_029663.2:g.74148T>C, NM_014812.3:c.1272T>C, NM_014812.2:c.1272T>C, NM_001042404.2:c.1272T>C, NM_001042404.1:c.1272T>C, NM_001042405.2:c.1272T>C, NM_001042405.1:c.1272T>C, NT_187519.1:g.198367A>G, XM_006711843.5:c.1272T>C, XM_006711843.4:c.1272T>C, XM_006711843.3:c.1272T>C, XM_006711843.2:c.1272T>C, XM_006711843.1:c.1272T>C, XM_011544335.4:c.1272T>C, XM_011544335.3:c.1272T>C, XM_011544335.2:c.1272T>C, XM_011544335.1:c.1272T>C, XM_011544334.4:c.1272T>C, XM_011544334.3:c.1272T>C, XM_011544334.2:c.1272T>C, XM_011544334.1:c.1272T>C, XM_011544337.4:c.1272T>C, XM_011544337.3:c.1272T>C, XM_011544337.2:c.1272T>C, XM_011544337.1:c.1272T>C, XM_011544338.4:c.1272T>C, XM_011544338.3:c.1272T>C, XM_011544338.2:c.1272T>C, XM_011544338.1:c.1272T>C, XM_011544339.4:c.1272T>C, XM_011544339.3:c.1272T>C, XM_011544339.2:c.1272T>C, XM_011544339.1:c.1272T>C, XM_011544340.4:c.1272T>C, XM_011544340.3:c.1272T>C, XM_011544340.2:c.1272T>C, XM_011544340.1:c.1272T>C, XM_011544341.4:c.1272T>C, XM_011544341.3:c.1272T>C, XM_011544341.2:c.1272T>C, XM_011544341.1:c.1272T>C, XM_011544342.4:c.1272T>C, XM_011544342.3:c.1272T>C, XM_011544342.2:c.1272T>C, XM_011544342.1:c.1272T>C, XM_011544343.4:c.795T>C, XM_011544343.3:c.795T>C, XM_011544343.2:c.795T>C, XM_011544343.1:c.795T>C, XM_011544344.4:c.1272T>C, XM_011544344.3:c.1272T>C, XM_011544344.2:c.1272T>C, XM_011544344.1:c.1272T>C, XM_011544336.3:c.1272T>C, XM_011544336.2:c.1272T>C, XM_011544336.1:c.1272T>C, XM_017002935.3:c.1272T>C, XM_017002935.2:c.1272T>C, XM_017002935.1:c.1272T>C, XM_017002937.3:c.1272T>C, XM_017002937.2:c.1272T>C, XM_017002937.1:c.1272T>C, XM_017002938.3:c.1272T>C, XM_017002938.2:c.1272T>C, XM_017002938.1:c.1272T>C, XM_017002942.3:c.1272T>C, XM_017002942.2:c.1272T>C, XM_017002942.1:c.1272T>C, XM_017002945.3:c.1272T>C, XM_017002945.2:c.1272T>C, XM_017002945.1:c.1272T>C, XM_017002947.3:c.1272T>C, XM_017002947.2:c.1272T>C, XM_017002947.1:c.1272T>C, XM_017002946.3:c.795T>C, XM_017002946.2:c.795T>C, XM_017002946.1:c.795T>C, XM_017002949.3:c.1272T>C, XM_017002949.2:c.1272T>C, XM_017002949.1:c.1272T>C, XM_017002951.3:c.795T>C, XM_017002951.2:c.795T>C, XM_017002951.1:c.795T>C, XM_017002932.2:c.1272T>C, XM_017002932.1:c.1272T>C, XM_047435483.1:c.1272T>C, XM_047435495.1:c.1272T>C

                                      19.

                                      rs1481300672 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        1:243191163 (GRCh38)
                                        1:243354465 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:243191162:C:A
                                        Gene:
                                        CEP170 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.243191163C>A, NC_000001.10:g.243354465C>A, NG_029663.2:g.69244G>T, NM_014812.3:c.963G>T, NM_014812.2:c.963G>T, NM_001042404.2:c.963G>T, NM_001042404.1:c.963G>T, NM_001042405.2:c.963G>T, NM_001042405.1:c.963G>T, NT_187519.1:g.203271C>A, XM_006711843.5:c.963G>T, XM_006711843.4:c.963G>T, XM_006711843.3:c.963G>T, XM_006711843.2:c.963G>T, XM_006711843.1:c.963G>T, XM_011544335.4:c.963G>T, XM_011544335.3:c.963G>T, XM_011544335.2:c.963G>T, XM_011544335.1:c.963G>T, XM_011544334.4:c.963G>T, XM_011544334.3:c.963G>T, XM_011544334.2:c.963G>T, XM_011544334.1:c.963G>T, XM_011544337.4:c.963G>T, XM_011544337.3:c.963G>T, XM_011544337.2:c.963G>T, XM_011544337.1:c.963G>T, XM_011544338.4:c.963G>T, XM_011544338.3:c.963G>T, XM_011544338.2:c.963G>T, XM_011544338.1:c.963G>T, XM_011544339.4:c.963G>T, XM_011544339.3:c.963G>T, XM_011544339.2:c.963G>T, XM_011544339.1:c.963G>T, XM_011544340.4:c.963G>T, XM_011544340.3:c.963G>T, XM_011544340.2:c.963G>T, XM_011544340.1:c.963G>T, XM_011544341.4:c.963G>T, XM_011544341.3:c.963G>T, XM_011544341.2:c.963G>T, XM_011544341.1:c.963G>T, XM_011544342.4:c.963G>T, XM_011544342.3:c.963G>T, XM_011544342.2:c.963G>T, XM_011544342.1:c.963G>T, XM_011544344.4:c.963G>T, XM_011544344.3:c.963G>T, XM_011544344.2:c.963G>T, XM_011544344.1:c.963G>T, XM_011544336.3:c.963G>T, XM_011544336.2:c.963G>T, XM_011544336.1:c.963G>T, XM_017002935.3:c.963G>T, XM_017002935.2:c.963G>T, XM_017002935.1:c.963G>T, XM_017002937.3:c.963G>T, XM_017002937.2:c.963G>T, XM_017002937.1:c.963G>T, XM_017002938.3:c.963G>T, XM_017002938.2:c.963G>T, XM_017002938.1:c.963G>T, XM_017002942.3:c.963G>T, XM_017002942.2:c.963G>T, XM_017002942.1:c.963G>T, XM_017002945.3:c.963G>T, XM_017002945.2:c.963G>T, XM_017002945.1:c.963G>T, XM_017002947.3:c.963G>T, XM_017002947.2:c.963G>T, XM_017002947.1:c.963G>T, XM_017002949.3:c.963G>T, XM_017002949.2:c.963G>T, XM_017002949.1:c.963G>T, XM_017002932.2:c.963G>T, XM_017002932.1:c.963G>T, XM_047435483.1:c.963G>T, XM_047435495.1:c.963G>T

                                        20.

                                        rs1481209584 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          1:243165531 (GRCh38)
                                          1:243328833 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:243165530:C:A
                                          Gene:
                                          CEP170 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.243165531C>A, NC_000001.10:g.243328833C>A, NG_029663.2:g.94876G>T, NM_014812.3:c.2429G>T, NM_014812.2:c.2429G>T, NM_001042404.2:c.2135G>T, NM_001042404.1:c.2135G>T, NM_001042405.2:c.2135G>T, NM_001042405.1:c.2135G>T, NT_187519.1:g.177639C>A, XM_006711843.5:c.2615G>T, XM_006711843.4:c.2615G>T, XM_006711843.3:c.2615G>T, XM_006711843.2:c.2615G>T, XM_006711843.1:c.2615G>T, XM_011544335.4:c.2615G>T, XM_011544335.3:c.2615G>T, XM_011544335.2:c.2615G>T, XM_011544335.1:c.2615G>T, XM_011544334.4:c.2615G>T, XM_011544334.3:c.2615G>T, XM_011544334.2:c.2615G>T, XM_011544334.1:c.2615G>T, XM_011544337.4:c.2615G>T, XM_011544337.3:c.2615G>T, XM_011544337.2:c.2615G>T, XM_011544337.1:c.2615G>T, XM_011544338.4:c.2615G>T, XM_011544338.3:c.2615G>T, XM_011544338.2:c.2615G>T, XM_011544338.1:c.2615G>T, XM_011544339.4:c.2615G>T, XM_011544339.3:c.2615G>T, XM_011544339.2:c.2615G>T, XM_011544339.1:c.2615G>T, XM_011544340.4:c.2615G>T, XM_011544340.3:c.2615G>T, XM_011544340.2:c.2615G>T, XM_011544340.1:c.2615G>T, XM_011544341.4:c.2429G>T, XM_011544341.3:c.2429G>T, XM_011544341.2:c.2429G>T, XM_011544341.1:c.2429G>T, XM_011544342.4:c.2615G>T, XM_011544342.3:c.2615G>T, XM_011544342.2:c.2615G>T, XM_011544342.1:c.2615G>T, XM_011544343.4:c.2138G>T, XM_011544343.3:c.2138G>T, XM_011544343.2:c.2138G>T, XM_011544343.1:c.2138G>T, XM_011544344.4:c.2135G>T, XM_011544344.3:c.2135G>T, XM_011544344.2:c.2135G>T, XM_011544344.1:c.2135G>T, XM_011544336.3:c.2615G>T, XM_011544336.2:c.2615G>T, XM_011544336.1:c.2615G>T, XM_017002935.3:c.2429G>T, XM_017002935.2:c.2429G>T, XM_017002935.1:c.2429G>T, XM_017002937.3:c.2429G>T, XM_017002937.2:c.2429G>T, XM_017002937.1:c.2429G>T, XM_017002938.3:c.2429G>T, XM_017002938.2:c.2429G>T, XM_017002938.1:c.2429G>T, XM_017002942.3:c.2429G>T, XM_017002942.2:c.2429G>T, XM_017002942.1:c.2429G>T, XM_017002945.3:c.2135G>T, XM_017002945.2:c.2135G>T, XM_017002945.1:c.2135G>T, XM_017002947.3:c.2135G>T, XM_017002947.2:c.2135G>T, XM_017002947.1:c.2135G>T, XM_017002946.3:c.1952G>T, XM_017002946.2:c.1952G>T, XM_017002946.1:c.1952G>T, XM_017002949.3:c.2135G>T, XM_017002949.2:c.2135G>T, XM_017002949.1:c.2135G>T, XM_017002951.3:c.1658G>T, XM_017002951.2:c.1658G>T, XM_017002951.1:c.1658G>T, XM_017002932.2:c.2615G>T, XM_017002932.1:c.2615G>T, XM_047435483.1:c.2615G>T, XM_047435495.1:c.2615G>T, NP_055627.2:p.Arg810Ile, NP_001035863.1:p.Arg712Ile, NP_001035864.1:p.Arg712Ile, XP_006711906.1:p.Arg872Ile, XP_011542637.1:p.Arg872Ile, XP_011542636.1:p.Arg872Ile, XP_011542639.1:p.Arg872Ile, XP_011542640.1:p.Arg872Ile, XP_011542641.1:p.Arg872Ile, XP_011542642.1:p.Arg872Ile, XP_011542643.1:p.Arg810Ile, XP_011542644.1:p.Arg872Ile, XP_011542645.1:p.Arg713Ile, XP_011542646.1:p.Arg712Ile, XP_011542638.1:p.Arg872Ile, XP_016858424.1:p.Arg810Ile, XP_016858426.1:p.Arg810Ile, XP_016858427.1:p.Arg810Ile, XP_016858431.1:p.Arg810Ile, XP_016858434.1:p.Arg712Ile, XP_016858436.1:p.Arg712Ile, XP_016858435.1:p.Arg651Ile, XP_016858438.1:p.Arg712Ile, XP_016858440.1:p.Arg553Ile, XP_016858421.1:p.Arg872Ile, XP_047291439.1:p.Arg872Ile, XP_047291451.1:p.Arg872Ile

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