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Items: 1 to 20 of 527

1.

rs1489756017 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:65927654 (GRCh38)
    17:63923772 (GRCh37)
    Canonical SPDI:
    NC_000017.11:65927653:T:C
    Gene:
    CEP112 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    HGVS:
    NC_000017.11:g.65927654T>C, NC_000017.10:g.63923772T>C, XM_005257119.6:c.1911A>G, XM_005257119.5:c.1911A>G, XM_005257119.4:c.1911A>G, XM_005257119.3:c.1911A>G, XM_005257119.2:c.1911A>G, XM_005257119.1:c.1911A>G, XM_005257126.5:c.684A>G, XM_005257126.4:c.684A>G, XM_005257126.3:c.684A>G, XM_005257126.2:c.684A>G, XM_005257126.1:c.684A>G, NM_001199165.4:c.1908A>G, NM_001199165.3:c.1908A>G, NM_001199165.2:c.1908A>G, NM_001199165.1:c.1908A>G, XM_006721744.4:c.1911A>G, XM_006721744.3:c.1911A>G, XM_006721744.2:c.1911A>G, XM_006721744.1:c.1911A>G, XM_005257125.4:c.987A>G, XM_005257125.3:c.987A>G, XM_005257125.2:c.987A>G, XM_005257125.1:c.987A>G, NM_145036.3:c.1908A>G, NM_001302891.3:c.1782A>G, NM_001302891.2:c.1782A>G, NM_001302891.1:c.1782A>G, XM_011524465.3:c.1218A>G, XM_011524465.2:c.1218A>G, XM_011524465.1:c.1218A>G, XM_011524466.3:c.852A>G, XM_011524466.2:c.852A>G, XM_011524466.1:c.852A>G, XM_011524467.3:c.693A>G, XM_011524467.2:c.693A>G, XM_011524467.1:c.693A>G, NM_001353127.2:c.1908A>G, NM_001353127.1:c.1908A>G, NM_001353129.2:c.1911A>G, NM_001353129.1:c.1911A>G, NM_001353128.2:c.1782A>G, NM_001353128.1:c.1782A>G, XM_024450634.2:c.1218A>G, XM_024450634.1:c.1218A>G, XM_047435530.1:c.1908A>G, XM_047435525.1:c.1911A>G, XM_047435526.1:c.1908A>G, XM_047435528.1:c.1911A>G, XM_047435529.1:c.1908A>G, XR_007065280.1:n.2056A>G, XR_007065281.1:n.2056A>G, XM_047435527.1:c.1911A>G, XR_007065282.1:n.2056A>G

    2.

    rs1482068524 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      17:65743190 (GRCh38)
      17:63739308 (GRCh37)
      Canonical SPDI:
      NC_000017.11:65743189:A:C
      Gene:
      CEP112 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
      HGVS:
      NC_000017.11:g.65743190A>C, NC_000017.10:g.63739308A>C, XM_005257119.6:c.2488T>G, XM_005257119.5:c.2488T>G, XM_005257119.4:c.2488T>G, XM_005257119.3:c.2488T>G, XM_005257119.2:c.2488T>G, XM_005257119.1:c.2488T>G, XM_005257126.5:c.1261T>G, XM_005257126.4:c.1261T>G, XM_005257126.3:c.1261T>G, XM_005257126.2:c.1261T>G, XM_005257126.1:c.1261T>G, NM_001199165.4:c.2485T>G, NM_001199165.3:c.2485T>G, NM_001199165.2:c.2485T>G, NM_001199165.1:c.2485T>G, XM_005257125.4:c.1564T>G, XM_005257125.3:c.1564T>G, XM_005257125.2:c.1564T>G, XM_005257125.1:c.1564T>G, NM_145036.3:c.2485T>G, NM_001302891.3:c.2359T>G, NM_001302891.2:c.2359T>G, NM_001302891.1:c.2359T>G, XM_011524465.3:c.1795T>G, XM_011524465.2:c.1795T>G, XM_011524465.1:c.1795T>G, XM_011524466.3:c.1429T>G, XM_011524466.2:c.1429T>G, XM_011524466.1:c.1429T>G, XM_011524467.3:c.1270T>G, XM_011524467.2:c.1270T>G, XM_011524467.1:c.1270T>G, NM_001037325.3:c.253T>G, NM_001037325.2:c.253T>G, NM_001353127.2:c.2485T>G, NM_001353127.1:c.2485T>G, NM_001353129.2:c.2488T>G, NM_001353129.1:c.2488T>G, NM_001353128.2:c.2359T>G, NM_001353128.1:c.2359T>G, XM_024450634.2:c.1795T>G, XM_024450634.1:c.1795T>G, XM_047435525.1:c.2488T>G, XM_047435526.1:c.2485T>G, XR_007065280.1:n.2633T>G, XR_007065281.1:n.2633T>G, XM_047435527.1:c.2488T>G, XP_005257176.1:p.Ser830Ala, XP_005257183.1:p.Ser421Ala, NP_001186094.1:p.Ser829Ala, XP_005257182.1:p.Ser522Ala, NP_001289820.1:p.Ser787Ala, XP_011522767.1:p.Ser599Ala, XP_011522768.1:p.Ser477Ala, XP_011522769.1:p.Ser424Ala, NP_001032402.1:p.Ser85Ala, NP_001340056.1:p.Ser829Ala, NP_001340058.1:p.Ser830Ala, NP_001340057.1:p.Ser787Ala, XP_024306402.1:p.Ser599Ala, XP_047291481.1:p.Ser830Ala, XP_047291482.1:p.Ser829Ala, XP_047291483.1:p.Ser830Ala

      3.

      rs1481609331 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:66028355 (GRCh38)
        17:64024473 (GRCh37)
        Canonical SPDI:
        NC_000017.11:66028354:C:T
        Gene:
        CEP112 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.66028355C>T, NC_000017.10:g.64024473C>T, XM_005257119.6:c.1557G>A, XM_005257119.5:c.1557G>A, XM_005257119.4:c.1557G>A, XM_005257119.3:c.1557G>A, XM_005257119.2:c.1557G>A, XM_005257119.1:c.1557G>A, XM_005257126.5:c.330G>A, XM_005257126.4:c.330G>A, XM_005257126.3:c.330G>A, XM_005257126.2:c.330G>A, XM_005257126.1:c.330G>A, NM_001199165.4:c.1554G>A, NM_001199165.3:c.1554G>A, NM_001199165.2:c.1554G>A, NM_001199165.1:c.1554G>A, XM_006721744.4:c.1557G>A, XM_006721744.3:c.1557G>A, XM_006721744.2:c.1557G>A, XM_006721744.1:c.1557G>A, XM_005257125.4:c.633G>A, XM_005257125.3:c.633G>A, XM_005257125.2:c.633G>A, XM_005257125.1:c.633G>A, NM_145036.3:c.1554G>A, NM_001302891.3:c.1428G>A, NM_001302891.2:c.1428G>A, NM_001302891.1:c.1428G>A, XM_011524465.3:c.864G>A, XM_011524465.2:c.864G>A, XM_011524465.1:c.864G>A, XM_011524466.3:c.498G>A, XM_011524466.2:c.498G>A, XM_011524466.1:c.498G>A, XM_011524467.3:c.339G>A, XM_011524467.2:c.339G>A, XM_011524467.1:c.339G>A, NM_001353127.2:c.1554G>A, NM_001353127.1:c.1554G>A, NM_001353129.2:c.1557G>A, NM_001353129.1:c.1557G>A, NM_001353128.2:c.1428G>A, NM_001353128.1:c.1428G>A, XM_024450634.2:c.864G>A, XM_024450634.1:c.864G>A, XM_047435530.1:c.1554G>A, XM_047435525.1:c.1557G>A, XM_047435526.1:c.1554G>A, XM_047435528.1:c.1557G>A, XM_047435529.1:c.1554G>A, XR_007065280.1:n.1702G>A, XR_007065281.1:n.1702G>A, XM_047435527.1:c.1557G>A, XR_007065282.1:n.1702G>A

        4.

        rs1480822014 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:66029221 (GRCh38)
          17:64025339 (GRCh37)
          Canonical SPDI:
          NC_000017.11:66029220:G:A
          Gene:
          CEP112 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.66029221G>A, NC_000017.10:g.64025339G>A, XM_005257119.6:c.1408C>T, XM_005257119.5:c.1408C>T, XM_005257119.4:c.1408C>T, XM_005257119.3:c.1408C>T, XM_005257119.2:c.1408C>T, XM_005257119.1:c.1408C>T, XM_005257126.5:c.181C>T, XM_005257126.4:c.181C>T, XM_005257126.3:c.181C>T, XM_005257126.2:c.181C>T, XM_005257126.1:c.181C>T, NM_001199165.4:c.1405C>T, NM_001199165.3:c.1405C>T, NM_001199165.2:c.1405C>T, NM_001199165.1:c.1405C>T, XM_006721744.4:c.1408C>T, XM_006721744.3:c.1408C>T, XM_006721744.2:c.1408C>T, XM_006721744.1:c.1408C>T, XM_005257125.4:c.484C>T, XM_005257125.3:c.484C>T, XM_005257125.2:c.484C>T, XM_005257125.1:c.484C>T, NM_145036.3:c.1405C>T, NM_001302891.3:c.1279C>T, NM_001302891.2:c.1279C>T, NM_001302891.1:c.1279C>T, XM_011524465.3:c.715C>T, XM_011524465.2:c.715C>T, XM_011524465.1:c.715C>T, XM_011524466.3:c.349C>T, XM_011524466.2:c.349C>T, XM_011524466.1:c.349C>T, XM_011524467.3:c.190C>T, XM_011524467.2:c.190C>T, XM_011524467.1:c.190C>T, NM_001353127.2:c.1405C>T, NM_001353127.1:c.1405C>T, NM_001353129.2:c.1408C>T, NM_001353129.1:c.1408C>T, NM_001353128.2:c.1279C>T, NM_001353128.1:c.1279C>T, XM_024450634.2:c.715C>T, XM_024450634.1:c.715C>T, XM_047435530.1:c.1405C>T, XM_047435525.1:c.1408C>T, XM_047435526.1:c.1405C>T, XM_047435528.1:c.1408C>T, XM_047435529.1:c.1405C>T, XR_007065280.1:n.1553C>T, XR_007065281.1:n.1553C>T, XM_047435527.1:c.1408C>T, XR_007065282.1:n.1553C>T, XP_005257176.1:p.Leu470Phe, XP_005257183.1:p.Leu61Phe, NP_001186094.1:p.Leu469Phe, XP_006721807.1:p.Leu470Phe, XP_005257182.1:p.Leu162Phe, NP_001289820.1:p.Leu427Phe, XP_011522767.1:p.Leu239Phe, XP_011522768.1:p.Leu117Phe, XP_011522769.1:p.Leu64Phe, NP_001340056.1:p.Leu469Phe, NP_001340058.1:p.Leu470Phe, NP_001340057.1:p.Leu427Phe, XP_024306402.1:p.Leu239Phe, XP_047291486.1:p.Leu469Phe, XP_047291481.1:p.Leu470Phe, XP_047291482.1:p.Leu469Phe, XP_047291484.1:p.Leu470Phe, XP_047291485.1:p.Leu469Phe, XP_047291483.1:p.Leu470Phe

          5.

          rs1479997976 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            17:65902159 (GRCh38)
            17:63898277 (GRCh37)
            Canonical SPDI:
            NC_000017.11:65902158:T:A
            Gene:
            CEP112 (Varview), LOC105371867 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000017.11:g.65902159T>A, NC_000017.10:g.63898277T>A, XM_005257119.6:c.2159A>T, XM_005257119.5:c.2159A>T, XM_005257119.4:c.2159A>T, XM_005257119.3:c.2159A>T, XM_005257119.2:c.2159A>T, XM_005257119.1:c.2159A>T, XM_005257126.5:c.932A>T, XM_005257126.4:c.932A>T, XM_005257126.3:c.932A>T, XM_005257126.2:c.932A>T, XM_005257126.1:c.932A>T, NM_001199165.4:c.2156A>T, NM_001199165.3:c.2156A>T, NM_001199165.2:c.2156A>T, NM_001199165.1:c.2156A>T, XM_006721744.4:c.2159A>T, XM_006721744.3:c.2159A>T, XM_006721744.2:c.2159A>T, XM_006721744.1:c.2159A>T, XM_005257125.4:c.1235A>T, XM_005257125.3:c.1235A>T, XM_005257125.2:c.1235A>T, XM_005257125.1:c.1235A>T, NM_145036.3:c.2156A>T, NM_001302891.3:c.2030A>T, NM_001302891.2:c.2030A>T, NM_001302891.1:c.2030A>T, XM_011524465.3:c.1466A>T, XM_011524465.2:c.1466A>T, XM_011524465.1:c.1466A>T, XM_011524466.3:c.1100A>T, XM_011524466.2:c.1100A>T, XM_011524466.1:c.1100A>T, XM_011524467.3:c.941A>T, XM_011524467.2:c.941A>T, XM_011524467.1:c.941A>T, NM_001353127.2:c.2156A>T, NM_001353127.1:c.2156A>T, NM_001353129.2:c.2159A>T, NM_001353129.1:c.2159A>T, NM_001353128.2:c.2030A>T, NM_001353128.1:c.2030A>T, XM_024450634.2:c.1466A>T, XM_024450634.1:c.1466A>T, XM_047435530.1:c.2156A>T, XM_047435525.1:c.2159A>T, XM_047435526.1:c.2156A>T, XM_047435528.1:c.2159A>T, XM_047435529.1:c.2156A>T, XR_007065280.1:n.2304A>T, XR_007065281.1:n.2304A>T, XM_047435527.1:c.2159A>T, XR_007065282.1:n.2304A>T, XP_005257176.1:p.Asp720Val, XP_005257183.1:p.Asp311Val, NP_001186094.1:p.Asp719Val, XP_006721807.1:p.Asp720Val, XP_005257182.1:p.Asp412Val, NP_001289820.1:p.Asp677Val, XP_011522767.1:p.Asp489Val, XP_011522768.1:p.Asp367Val, XP_011522769.1:p.Asp314Val, NP_001340056.1:p.Asp719Val, NP_001340058.1:p.Asp720Val, NP_001340057.1:p.Asp677Val, XP_024306402.1:p.Asp489Val, XP_047291486.1:p.Asp719Val, XP_047291481.1:p.Asp720Val, XP_047291482.1:p.Asp719Val, XP_047291484.1:p.Asp720Val, XP_047291485.1:p.Asp719Val, XP_047291483.1:p.Asp720Val

            6.

            rs1474670215 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:66029211 (GRCh38)
              17:64025329 (GRCh37)
              Canonical SPDI:
              NC_000017.11:66029210:T:C
              Gene:
              CEP112 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000017.11:g.66029211T>C, NC_000017.10:g.64025329T>C, XM_005257119.6:c.1418A>G, XM_005257119.5:c.1418A>G, XM_005257119.4:c.1418A>G, XM_005257119.3:c.1418A>G, XM_005257119.2:c.1418A>G, XM_005257119.1:c.1418A>G, XM_005257126.5:c.191A>G, XM_005257126.4:c.191A>G, XM_005257126.3:c.191A>G, XM_005257126.2:c.191A>G, XM_005257126.1:c.191A>G, NM_001199165.4:c.1415A>G, NM_001199165.3:c.1415A>G, NM_001199165.2:c.1415A>G, NM_001199165.1:c.1415A>G, XM_006721744.4:c.1418A>G, XM_006721744.3:c.1418A>G, XM_006721744.2:c.1418A>G, XM_006721744.1:c.1418A>G, XM_005257125.4:c.494A>G, XM_005257125.3:c.494A>G, XM_005257125.2:c.494A>G, XM_005257125.1:c.494A>G, NM_145036.3:c.1415A>G, NM_001302891.3:c.1289A>G, NM_001302891.2:c.1289A>G, NM_001302891.1:c.1289A>G, XM_011524465.3:c.725A>G, XM_011524465.2:c.725A>G, XM_011524465.1:c.725A>G, XM_011524466.3:c.359A>G, XM_011524466.2:c.359A>G, XM_011524466.1:c.359A>G, XM_011524467.3:c.200A>G, XM_011524467.2:c.200A>G, XM_011524467.1:c.200A>G, NM_001353127.2:c.1415A>G, NM_001353127.1:c.1415A>G, NM_001353129.2:c.1418A>G, NM_001353129.1:c.1418A>G, NM_001353128.2:c.1289A>G, NM_001353128.1:c.1289A>G, XM_024450634.2:c.725A>G, XM_024450634.1:c.725A>G, XM_047435530.1:c.1415A>G, XM_047435525.1:c.1418A>G, XM_047435526.1:c.1415A>G, XM_047435528.1:c.1418A>G, XM_047435529.1:c.1415A>G, XR_007065280.1:n.1563A>G, XR_007065281.1:n.1563A>G, XM_047435527.1:c.1418A>G, XR_007065282.1:n.1563A>G, XP_005257176.1:p.Asp473Gly, XP_005257183.1:p.Asp64Gly, NP_001186094.1:p.Asp472Gly, XP_006721807.1:p.Asp473Gly, XP_005257182.1:p.Asp165Gly, NP_001289820.1:p.Asp430Gly, XP_011522767.1:p.Asp242Gly, XP_011522768.1:p.Asp120Gly, XP_011522769.1:p.Asp67Gly, NP_001340056.1:p.Asp472Gly, NP_001340058.1:p.Asp473Gly, NP_001340057.1:p.Asp430Gly, XP_024306402.1:p.Asp242Gly, XP_047291486.1:p.Asp472Gly, XP_047291481.1:p.Asp473Gly, XP_047291482.1:p.Asp472Gly, XP_047291484.1:p.Asp473Gly, XP_047291485.1:p.Asp472Gly, XP_047291483.1:p.Asp473Gly

              7.

              rs1471705309 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:65750705 (GRCh38)
                17:63746823 (GRCh37)
                Canonical SPDI:
                NC_000017.11:65750704:T:C
                Gene:
                CEP112 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000017.11:g.65750705T>C, NC_000017.10:g.63746823T>C, XM_005257119.6:c.2417A>G, XM_005257119.5:c.2417A>G, XM_005257119.4:c.2417A>G, XM_005257119.3:c.2417A>G, XM_005257119.2:c.2417A>G, XM_005257119.1:c.2417A>G, XM_005257126.5:c.1190A>G, XM_005257126.4:c.1190A>G, XM_005257126.3:c.1190A>G, XM_005257126.2:c.1190A>G, XM_005257126.1:c.1190A>G, NM_001199165.4:c.2414A>G, NM_001199165.3:c.2414A>G, NM_001199165.2:c.2414A>G, NM_001199165.1:c.2414A>G, XM_005257125.4:c.1493A>G, XM_005257125.3:c.1493A>G, XM_005257125.2:c.1493A>G, XM_005257125.1:c.1493A>G, NM_145036.3:c.2414A>G, NM_001302891.3:c.2288A>G, NM_001302891.2:c.2288A>G, NM_001302891.1:c.2288A>G, XM_011524465.3:c.1724A>G, XM_011524465.2:c.1724A>G, XM_011524465.1:c.1724A>G, XM_011524466.3:c.1358A>G, XM_011524466.2:c.1358A>G, XM_011524466.1:c.1358A>G, XM_011524467.3:c.1199A>G, XM_011524467.2:c.1199A>G, XM_011524467.1:c.1199A>G, NM_001037325.3:c.182A>G, NM_001037325.2:c.182A>G, NM_001353127.2:c.2414A>G, NM_001353127.1:c.2414A>G, NM_001353129.2:c.2417A>G, NM_001353129.1:c.2417A>G, NM_001353128.2:c.2288A>G, NM_001353128.1:c.2288A>G, XM_024450634.2:c.1724A>G, XM_024450634.1:c.1724A>G, XM_047435525.1:c.2417A>G, XM_047435526.1:c.2414A>G, XR_007065280.1:n.2562A>G, XR_007065281.1:n.2562A>G, XM_047435527.1:c.2417A>G, XR_007065282.1:n.2692A>G, XP_005257176.1:p.Gln806Arg, XP_005257183.1:p.Gln397Arg, NP_001186094.1:p.Gln805Arg, XP_005257182.1:p.Gln498Arg, NP_001289820.1:p.Gln763Arg, XP_011522767.1:p.Gln575Arg, XP_011522768.1:p.Gln453Arg, XP_011522769.1:p.Gln400Arg, NP_001032402.1:p.Gln61Arg, NP_001340056.1:p.Gln805Arg, NP_001340058.1:p.Gln806Arg, NP_001340057.1:p.Gln763Arg, XP_024306402.1:p.Gln575Arg, XP_047291481.1:p.Gln806Arg, XP_047291482.1:p.Gln805Arg, XP_047291483.1:p.Gln806Arg

                8.

                rs1471633014 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:65902225 (GRCh38)
                  17:63898343 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:65902224:A:G
                  Gene:
                  CEP112 (Varview), LOC105371867 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000047/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.65902225A>G, NC_000017.10:g.63898343A>G, XM_005257119.6:c.2093T>C, XM_005257119.5:c.2093T>C, XM_005257119.4:c.2093T>C, XM_005257119.3:c.2093T>C, XM_005257119.2:c.2093T>C, XM_005257119.1:c.2093T>C, XM_005257126.5:c.866T>C, XM_005257126.4:c.866T>C, XM_005257126.3:c.866T>C, XM_005257126.2:c.866T>C, XM_005257126.1:c.866T>C, NM_001199165.4:c.2090T>C, NM_001199165.3:c.2090T>C, NM_001199165.2:c.2090T>C, NM_001199165.1:c.2090T>C, XM_006721744.4:c.2093T>C, XM_006721744.3:c.2093T>C, XM_006721744.2:c.2093T>C, XM_006721744.1:c.2093T>C, XM_005257125.4:c.1169T>C, XM_005257125.3:c.1169T>C, XM_005257125.2:c.1169T>C, XM_005257125.1:c.1169T>C, NM_145036.3:c.2090T>C, NM_001302891.3:c.1964T>C, NM_001302891.2:c.1964T>C, NM_001302891.1:c.1964T>C, XM_011524465.3:c.1400T>C, XM_011524465.2:c.1400T>C, XM_011524465.1:c.1400T>C, XM_011524466.3:c.1034T>C, XM_011524466.2:c.1034T>C, XM_011524466.1:c.1034T>C, XM_011524467.3:c.875T>C, XM_011524467.2:c.875T>C, XM_011524467.1:c.875T>C, NM_001353127.2:c.2090T>C, NM_001353127.1:c.2090T>C, NM_001353129.2:c.2093T>C, NM_001353129.1:c.2093T>C, NM_001353128.2:c.1964T>C, NM_001353128.1:c.1964T>C, XM_024450634.2:c.1400T>C, XM_024450634.1:c.1400T>C, XM_047435530.1:c.2090T>C, XM_047435525.1:c.2093T>C, XM_047435526.1:c.2090T>C, XM_047435528.1:c.2093T>C, XM_047435529.1:c.2090T>C, XR_007065280.1:n.2238T>C, XR_007065281.1:n.2238T>C, XM_047435527.1:c.2093T>C, XR_007065282.1:n.2238T>C, XP_005257176.1:p.Leu698Pro, XP_005257183.1:p.Leu289Pro, NP_001186094.1:p.Leu697Pro, XP_006721807.1:p.Leu698Pro, XP_005257182.1:p.Leu390Pro, NP_001289820.1:p.Leu655Pro, XP_011522767.1:p.Leu467Pro, XP_011522768.1:p.Leu345Pro, XP_011522769.1:p.Leu292Pro, NP_001340056.1:p.Leu697Pro, NP_001340058.1:p.Leu698Pro, NP_001340057.1:p.Leu655Pro, XP_024306402.1:p.Leu467Pro, XP_047291486.1:p.Leu697Pro, XP_047291481.1:p.Leu698Pro, XP_047291482.1:p.Leu697Pro, XP_047291484.1:p.Leu698Pro, XP_047291485.1:p.Leu697Pro, XP_047291483.1:p.Leu698Pro

                  9.

                  rs1471192226 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:65689145 (GRCh38)
                    17:63685263 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:65689144:A:G
                    Gene:
                    CEP112 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.65689145A>G, NC_000017.10:g.63685263A>G, XM_005257119.6:c.2684T>C, XM_005257119.5:c.2684T>C, XM_005257119.4:c.2684T>C, XM_005257119.3:c.2684T>C, XM_005257119.2:c.2684T>C, XM_005257119.1:c.2684T>C, XM_005257126.5:c.1457T>C, XM_005257126.4:c.1457T>C, XM_005257126.3:c.1457T>C, XM_005257126.2:c.1457T>C, XM_005257126.1:c.1457T>C, NM_001199165.4:c.2681T>C, NM_001199165.3:c.2681T>C, NM_001199165.2:c.2681T>C, NM_001199165.1:c.2681T>C, XM_005257125.4:c.1760T>C, XM_005257125.3:c.1760T>C, XM_005257125.2:c.1760T>C, XM_005257125.1:c.1760T>C, NM_145036.3:c.2681T>C, NM_001302891.3:c.2555T>C, NM_001302891.2:c.2555T>C, NM_001302891.1:c.2555T>C, XM_011524465.3:c.1991T>C, XM_011524465.2:c.1991T>C, XM_011524465.1:c.1991T>C, XM_011524466.3:c.1625T>C, XM_011524466.2:c.1625T>C, XM_011524466.1:c.1625T>C, XM_011524467.3:c.1466T>C, XM_011524467.2:c.1466T>C, XM_011524467.1:c.1466T>C, NM_001037325.3:c.449T>C, NM_001037325.2:c.449T>C, NM_001353127.2:c.2681T>C, NM_001353127.1:c.2681T>C, NM_001353129.2:c.2684T>C, NM_001353129.1:c.2684T>C, NM_001353128.2:c.2555T>C, NM_001353128.1:c.2555T>C, XM_024450634.2:c.1991T>C, XM_024450634.1:c.1991T>C, NR_126542.2:n.431T>C, NR_126542.1:n.523T>C, XM_047435530.1:c.2468T>C, XM_047435525.1:c.2684T>C, XM_047435526.1:c.2681T>C, XM_047435528.1:c.2471T>C, XM_047435529.1:c.2468T>C, XR_007065281.1:n.2829T>C, XM_047435527.1:c.2684T>C, XP_005257176.1:p.Leu895Ser, XP_005257183.1:p.Leu486Ser, NP_001186094.1:p.Leu894Ser, XP_005257182.1:p.Leu587Ser, NP_001289820.1:p.Leu852Ser, XP_011522767.1:p.Leu664Ser, XP_011522768.1:p.Leu542Ser, XP_011522769.1:p.Leu489Ser, NP_001032402.1:p.Leu150Ser, NP_001340056.1:p.Leu894Ser, NP_001340058.1:p.Leu895Ser, NP_001340057.1:p.Leu852Ser, XP_024306402.1:p.Leu664Ser, XP_047291486.1:p.Leu823Ser, XP_047291481.1:p.Leu895Ser, XP_047291482.1:p.Leu894Ser, XP_047291484.1:p.Leu824Ser, XP_047291485.1:p.Leu823Ser, XP_047291483.1:p.Leu895Ser

                    10.

                    rs1469791963 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:65961594 (GRCh38)
                      17:63957712 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:65961593:T:C
                      Gene:
                      CEP112 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.65961594T>C, NC_000017.10:g.63957712T>C, XM_005257119.6:c.1744A>G, XM_005257119.5:c.1744A>G, XM_005257119.4:c.1744A>G, XM_005257119.3:c.1744A>G, XM_005257119.2:c.1744A>G, XM_005257119.1:c.1744A>G, XM_005257126.5:c.517A>G, XM_005257126.4:c.517A>G, XM_005257126.3:c.517A>G, XM_005257126.2:c.517A>G, XM_005257126.1:c.517A>G, NM_001199165.4:c.1741A>G, NM_001199165.3:c.1741A>G, NM_001199165.2:c.1741A>G, NM_001199165.1:c.1741A>G, XM_006721744.4:c.1744A>G, XM_006721744.3:c.1744A>G, XM_006721744.2:c.1744A>G, XM_006721744.1:c.1744A>G, XM_005257125.4:c.820A>G, XM_005257125.3:c.820A>G, XM_005257125.2:c.820A>G, XM_005257125.1:c.820A>G, NM_145036.3:c.1741A>G, NM_001302891.3:c.1615A>G, NM_001302891.2:c.1615A>G, NM_001302891.1:c.1615A>G, XM_011524465.3:c.1051A>G, XM_011524465.2:c.1051A>G, XM_011524465.1:c.1051A>G, XM_011524466.3:c.685A>G, XM_011524466.2:c.685A>G, XM_011524466.1:c.685A>G, XM_011524467.3:c.526A>G, XM_011524467.2:c.526A>G, XM_011524467.1:c.526A>G, NM_001353127.2:c.1741A>G, NM_001353127.1:c.1741A>G, NM_001353129.2:c.1744A>G, NM_001353129.1:c.1744A>G, NM_001353128.2:c.1615A>G, NM_001353128.1:c.1615A>G, XM_024450634.2:c.1051A>G, XM_024450634.1:c.1051A>G, XM_047435530.1:c.1741A>G, XM_047435525.1:c.1744A>G, XM_047435526.1:c.1741A>G, XM_047435528.1:c.1744A>G, XM_047435529.1:c.1741A>G, XR_007065280.1:n.1889A>G, XR_007065281.1:n.1889A>G, XM_047435527.1:c.1744A>G, XR_007065282.1:n.1889A>G, XP_005257176.1:p.Lys582Glu, XP_005257183.1:p.Lys173Glu, NP_001186094.1:p.Lys581Glu, XP_006721807.1:p.Lys582Glu, XP_005257182.1:p.Lys274Glu, NP_001289820.1:p.Lys539Glu, XP_011522767.1:p.Lys351Glu, XP_011522768.1:p.Lys229Glu, XP_011522769.1:p.Lys176Glu, NP_001340056.1:p.Lys581Glu, NP_001340058.1:p.Lys582Glu, NP_001340057.1:p.Lys539Glu, XP_024306402.1:p.Lys351Glu, XP_047291486.1:p.Lys581Glu, XP_047291481.1:p.Lys582Glu, XP_047291482.1:p.Lys581Glu, XP_047291484.1:p.Lys582Glu, XP_047291485.1:p.Lys581Glu, XP_047291483.1:p.Lys582Glu

                      11.

                      rs1469778870 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GT>- [Show Flanks]
                        Chromosome:
                        17:65750689 (GRCh38)
                        17:63746807 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:65750686:GTGT:GT
                        Gene:
                        CEP112 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GTGT=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000012/3 (GnomAD_exomes)
                        -=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000017.11:g.65750687GT[1], NC_000017.10:g.63746805GT[1], XM_005257119.6:c.2434_2435del, XM_005257119.5:c.2434_2435del, XM_005257119.4:c.2434_2435del, XM_005257119.3:c.2434_2435del, XM_005257119.2:c.2434_2435del, XM_005257119.1:c.2434_2435del, XM_005257126.5:c.1207_1208del, XM_005257126.4:c.1207_1208del, XM_005257126.3:c.1207_1208del, XM_005257126.2:c.1207_1208del, XM_005257126.1:c.1207_1208del, NM_001199165.4:c.2431_2432del, NM_001199165.3:c.2431_2432del, NM_001199165.2:c.2431_2432del, NM_001199165.1:c.2431_2432del, XM_005257125.4:c.1510_1511del, XM_005257125.3:c.1510_1511del, XM_005257125.2:c.1510_1511del, XM_005257125.1:c.1510_1511del, NM_145036.3:c.2431_2432del, NM_001302891.3:c.2305_2306del, NM_001302891.2:c.2305_2306del, NM_001302891.1:c.2305_2306del, XM_011524465.3:c.1741_1742del, XM_011524465.2:c.1741_1742del, XM_011524465.1:c.1741_1742del, XM_011524466.3:c.1375_1376del, XM_011524466.2:c.1375_1376del, XM_011524466.1:c.1375_1376del, XM_011524467.3:c.1216_1217del, XM_011524467.2:c.1216_1217del, XM_011524467.1:c.1216_1217del, NM_001037325.3:c.199_200del, NM_001037325.2:c.199_200del, NM_001353127.2:c.2431_2432del, NM_001353127.1:c.2431_2432del, NM_001353129.2:c.2434_2435del, NM_001353129.1:c.2434_2435del, NM_001353128.2:c.2305_2306del, NM_001353128.1:c.2305_2306del, XM_024450634.2:c.1741_1742del, XM_024450634.1:c.1741_1742del, XM_047435525.1:c.2434_2435del, XM_047435526.1:c.2431_2432del, XR_007065280.1:n.2577AC[1], XR_007065281.1:n.2577AC[1], XM_047435527.1:c.2434_2435del, XR_007065282.1:n.2707AC[1], XP_005257176.1:p.Thr812fs, XP_005257183.1:p.Thr403fs, NP_001186094.1:p.Thr811fs, XP_005257182.1:p.Thr504fs, NP_001289820.1:p.Thr769fs, XP_011522767.1:p.Thr581fs, XP_011522768.1:p.Thr459fs, XP_011522769.1:p.Thr406fs, NP_001032402.1:p.Thr67fs, NP_001340056.1:p.Thr811fs, NP_001340058.1:p.Thr812fs, NP_001340057.1:p.Thr769fs, XP_024306402.1:p.Thr581fs, XP_047291481.1:p.Thr812fs, XP_047291482.1:p.Thr811fs, XP_047291483.1:p.Thr812fs

                        12.

                        rs1469594965 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:66028379 (GRCh38)
                          17:64024497 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:66028378:C:T
                          Gene:
                          CEP112 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000017.11:g.66028379C>T, NC_000017.10:g.64024497C>T, XM_005257119.6:c.1533G>A, XM_005257119.5:c.1533G>A, XM_005257119.4:c.1533G>A, XM_005257119.3:c.1533G>A, XM_005257119.2:c.1533G>A, XM_005257119.1:c.1533G>A, XM_005257126.5:c.306G>A, XM_005257126.4:c.306G>A, XM_005257126.3:c.306G>A, XM_005257126.2:c.306G>A, XM_005257126.1:c.306G>A, NM_001199165.4:c.1530G>A, NM_001199165.3:c.1530G>A, NM_001199165.2:c.1530G>A, NM_001199165.1:c.1530G>A, XM_006721744.4:c.1533G>A, XM_006721744.3:c.1533G>A, XM_006721744.2:c.1533G>A, XM_006721744.1:c.1533G>A, XM_005257125.4:c.609G>A, XM_005257125.3:c.609G>A, XM_005257125.2:c.609G>A, XM_005257125.1:c.609G>A, NM_145036.3:c.1530G>A, NM_001302891.3:c.1404G>A, NM_001302891.2:c.1404G>A, NM_001302891.1:c.1404G>A, XM_011524465.3:c.840G>A, XM_011524465.2:c.840G>A, XM_011524465.1:c.840G>A, XM_011524466.3:c.474G>A, XM_011524466.2:c.474G>A, XM_011524466.1:c.474G>A, XM_011524467.3:c.315G>A, XM_011524467.2:c.315G>A, XM_011524467.1:c.315G>A, NM_001353127.2:c.1530G>A, NM_001353127.1:c.1530G>A, NM_001353129.2:c.1533G>A, NM_001353129.1:c.1533G>A, NM_001353128.2:c.1404G>A, NM_001353128.1:c.1404G>A, XM_024450634.2:c.840G>A, XM_024450634.1:c.840G>A, XM_047435530.1:c.1530G>A, XM_047435525.1:c.1533G>A, XM_047435526.1:c.1530G>A, XM_047435528.1:c.1533G>A, XM_047435529.1:c.1530G>A, XR_007065280.1:n.1678G>A, XR_007065281.1:n.1678G>A, XM_047435527.1:c.1533G>A, XR_007065282.1:n.1678G>A

                          13.

                          rs1465409143 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:66029240 (GRCh38)
                            17:64025358 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:66029239:C:T
                            Gene:
                            CEP112 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000017.11:g.66029240C>T, NC_000017.10:g.64025358C>T, XM_005257119.6:c.1389G>A, XM_005257119.5:c.1389G>A, XM_005257119.4:c.1389G>A, XM_005257119.3:c.1389G>A, XM_005257119.2:c.1389G>A, XM_005257119.1:c.1389G>A, XM_005257126.5:c.162G>A, XM_005257126.4:c.162G>A, XM_005257126.3:c.162G>A, XM_005257126.2:c.162G>A, XM_005257126.1:c.162G>A, NM_001199165.4:c.1386G>A, NM_001199165.3:c.1386G>A, NM_001199165.2:c.1386G>A, NM_001199165.1:c.1386G>A, XM_006721744.4:c.1389G>A, XM_006721744.3:c.1389G>A, XM_006721744.2:c.1389G>A, XM_006721744.1:c.1389G>A, XM_005257125.4:c.465G>A, XM_005257125.3:c.465G>A, XM_005257125.2:c.465G>A, XM_005257125.1:c.465G>A, NM_145036.3:c.1386G>A, NM_001302891.3:c.1260G>A, NM_001302891.2:c.1260G>A, NM_001302891.1:c.1260G>A, XM_011524465.3:c.696G>A, XM_011524465.2:c.696G>A, XM_011524465.1:c.696G>A, XM_011524466.3:c.330G>A, XM_011524466.2:c.330G>A, XM_011524466.1:c.330G>A, XM_011524467.3:c.171G>A, XM_011524467.2:c.171G>A, XM_011524467.1:c.171G>A, NM_001353127.2:c.1386G>A, NM_001353127.1:c.1386G>A, NM_001353129.2:c.1389G>A, NM_001353129.1:c.1389G>A, NM_001353128.2:c.1260G>A, NM_001353128.1:c.1260G>A, XM_024450634.2:c.696G>A, XM_024450634.1:c.696G>A, XM_047435530.1:c.1386G>A, XM_047435525.1:c.1389G>A, XM_047435526.1:c.1386G>A, XM_047435528.1:c.1389G>A, XM_047435529.1:c.1386G>A, XR_007065280.1:n.1534G>A, XR_007065281.1:n.1534G>A, XM_047435527.1:c.1389G>A, XR_007065282.1:n.1534G>A

                            14.

                            rs1460769386 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:65961481 (GRCh38)
                              17:63957599 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:65961480:A:G
                              Gene:
                              CEP112 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000017.11:g.65961481A>G, NC_000017.10:g.63957599A>G, XM_005257119.6:c.1857T>C, XM_005257119.5:c.1857T>C, XM_005257119.4:c.1857T>C, XM_005257119.3:c.1857T>C, XM_005257119.2:c.1857T>C, XM_005257119.1:c.1857T>C, XM_005257126.5:c.630T>C, XM_005257126.4:c.630T>C, XM_005257126.3:c.630T>C, XM_005257126.2:c.630T>C, XM_005257126.1:c.630T>C, NM_001199165.4:c.1854T>C, NM_001199165.3:c.1854T>C, NM_001199165.2:c.1854T>C, NM_001199165.1:c.1854T>C, XM_006721744.4:c.1857T>C, XM_006721744.3:c.1857T>C, XM_006721744.2:c.1857T>C, XM_006721744.1:c.1857T>C, XM_005257125.4:c.933T>C, XM_005257125.3:c.933T>C, XM_005257125.2:c.933T>C, XM_005257125.1:c.933T>C, NM_145036.3:c.1854T>C, NM_001302891.3:c.1728T>C, NM_001302891.2:c.1728T>C, NM_001302891.1:c.1728T>C, XM_011524465.3:c.1164T>C, XM_011524465.2:c.1164T>C, XM_011524465.1:c.1164T>C, XM_011524466.3:c.798T>C, XM_011524466.2:c.798T>C, XM_011524466.1:c.798T>C, XM_011524467.3:c.639T>C, XM_011524467.2:c.639T>C, XM_011524467.1:c.639T>C, NM_001353127.2:c.1854T>C, NM_001353127.1:c.1854T>C, NM_001353129.2:c.1857T>C, NM_001353129.1:c.1857T>C, NM_001353128.2:c.1728T>C, NM_001353128.1:c.1728T>C, XM_024450634.2:c.1164T>C, XM_024450634.1:c.1164T>C, XM_047435530.1:c.1854T>C, XM_047435525.1:c.1857T>C, XM_047435526.1:c.1854T>C, XM_047435528.1:c.1857T>C, XM_047435529.1:c.1854T>C, XR_007065280.1:n.2002T>C, XR_007065281.1:n.2002T>C, XM_047435527.1:c.1857T>C, XR_007065282.1:n.2002T>C

                              15.

                              rs1459955681 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                17:65750719 (GRCh38)
                                17:63746837 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:65750718:G:T
                                Gene:
                                CEP112 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.65750719G>T, NC_000017.10:g.63746837G>T, XM_005257119.6:c.2403C>A, XM_005257119.5:c.2403C>A, XM_005257119.4:c.2403C>A, XM_005257119.3:c.2403C>A, XM_005257119.2:c.2403C>A, XM_005257119.1:c.2403C>A, XM_005257126.5:c.1176C>A, XM_005257126.4:c.1176C>A, XM_005257126.3:c.1176C>A, XM_005257126.2:c.1176C>A, XM_005257126.1:c.1176C>A, NM_001199165.4:c.2400C>A, NM_001199165.3:c.2400C>A, NM_001199165.2:c.2400C>A, NM_001199165.1:c.2400C>A, XM_005257125.4:c.1479C>A, XM_005257125.3:c.1479C>A, XM_005257125.2:c.1479C>A, XM_005257125.1:c.1479C>A, NM_145036.3:c.2400C>A, NM_001302891.3:c.2274C>A, NM_001302891.2:c.2274C>A, NM_001302891.1:c.2274C>A, XM_011524465.3:c.1710C>A, XM_011524465.2:c.1710C>A, XM_011524465.1:c.1710C>A, XM_011524466.3:c.1344C>A, XM_011524466.2:c.1344C>A, XM_011524466.1:c.1344C>A, XM_011524467.3:c.1185C>A, XM_011524467.2:c.1185C>A, XM_011524467.1:c.1185C>A, NM_001037325.3:c.168C>A, NM_001037325.2:c.168C>A, NM_001353127.2:c.2400C>A, NM_001353127.1:c.2400C>A, NM_001353129.2:c.2403C>A, NM_001353129.1:c.2403C>A, NM_001353128.2:c.2274C>A, NM_001353128.1:c.2274C>A, XM_024450634.2:c.1710C>A, XM_024450634.1:c.1710C>A, XM_047435525.1:c.2403C>A, XM_047435526.1:c.2400C>A, XR_007065280.1:n.2548C>A, XR_007065281.1:n.2548C>A, XM_047435527.1:c.2403C>A, XR_007065282.1:n.2678C>A, XP_005257176.1:p.Asn801Lys, XP_005257183.1:p.Asn392Lys, NP_001186094.1:p.Asn800Lys, XP_005257182.1:p.Asn493Lys, NP_001289820.1:p.Asn758Lys, XP_011522767.1:p.Asn570Lys, XP_011522768.1:p.Asn448Lys, XP_011522769.1:p.Asn395Lys, NP_001032402.1:p.Asn56Lys, NP_001340056.1:p.Asn800Lys, NP_001340058.1:p.Asn801Lys, NP_001340057.1:p.Asn758Lys, XP_024306402.1:p.Asn570Lys, XP_047291481.1:p.Asn801Lys, XP_047291482.1:p.Asn800Lys, XP_047291483.1:p.Asn801Lys

                                16.

                                rs1454980895 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:65689157 (GRCh38)
                                  17:63685275 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:65689156:T:C
                                  Gene:
                                  CEP112 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.65689157T>C, NC_000017.10:g.63685275T>C, XM_005257119.6:c.2672A>G, XM_005257119.5:c.2672A>G, XM_005257119.4:c.2672A>G, XM_005257119.3:c.2672A>G, XM_005257119.2:c.2672A>G, XM_005257119.1:c.2672A>G, XM_005257126.5:c.1445A>G, XM_005257126.4:c.1445A>G, XM_005257126.3:c.1445A>G, XM_005257126.2:c.1445A>G, XM_005257126.1:c.1445A>G, NM_001199165.4:c.2669A>G, NM_001199165.3:c.2669A>G, NM_001199165.2:c.2669A>G, NM_001199165.1:c.2669A>G, XM_005257125.4:c.1748A>G, XM_005257125.3:c.1748A>G, XM_005257125.2:c.1748A>G, XM_005257125.1:c.1748A>G, NM_145036.3:c.2669A>G, NM_001302891.3:c.2543A>G, NM_001302891.2:c.2543A>G, NM_001302891.1:c.2543A>G, XM_011524465.3:c.1979A>G, XM_011524465.2:c.1979A>G, XM_011524465.1:c.1979A>G, XM_011524466.3:c.1613A>G, XM_011524466.2:c.1613A>G, XM_011524466.1:c.1613A>G, XM_011524467.3:c.1454A>G, XM_011524467.2:c.1454A>G, XM_011524467.1:c.1454A>G, NM_001037325.3:c.437A>G, NM_001037325.2:c.437A>G, NM_001353127.2:c.2669A>G, NM_001353127.1:c.2669A>G, NM_001353129.2:c.2672A>G, NM_001353129.1:c.2672A>G, NM_001353128.2:c.2543A>G, NM_001353128.1:c.2543A>G, XM_024450634.2:c.1979A>G, XM_024450634.1:c.1979A>G, NR_126542.2:n.419A>G, NR_126542.1:n.511A>G, XM_047435530.1:c.2456A>G, XM_047435525.1:c.2672A>G, XM_047435526.1:c.2669A>G, XM_047435528.1:c.2459A>G, XM_047435529.1:c.2456A>G, XR_007065281.1:n.2817A>G, XM_047435527.1:c.2672A>G, XP_005257176.1:p.Gln891Arg, XP_005257183.1:p.Gln482Arg, NP_001186094.1:p.Gln890Arg, XP_005257182.1:p.Gln583Arg, NP_001289820.1:p.Gln848Arg, XP_011522767.1:p.Gln660Arg, XP_011522768.1:p.Gln538Arg, XP_011522769.1:p.Gln485Arg, NP_001032402.1:p.Gln146Arg, NP_001340056.1:p.Gln890Arg, NP_001340058.1:p.Gln891Arg, NP_001340057.1:p.Gln848Arg, XP_024306402.1:p.Gln660Arg, XP_047291486.1:p.Gln819Arg, XP_047291481.1:p.Gln891Arg, XP_047291482.1:p.Gln890Arg, XP_047291484.1:p.Gln820Arg, XP_047291485.1:p.Gln819Arg, XP_047291483.1:p.Gln891Arg

                                  17.

                                  rs1454108415 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:65637171 (GRCh38)
                                    17:63633289 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:65637170:C:T
                                    Gene:
                                    CEP112 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.65637171C>T, NC_000017.10:g.63633289C>T, XM_005257119.6:c.2820G>A, XM_005257119.5:c.2820G>A, XM_005257119.4:c.2820G>A, XM_005257119.3:c.2820G>A, XM_005257119.2:c.2820G>A, XM_005257119.1:c.2820G>A, XM_005257126.5:c.1593G>A, XM_005257126.4:c.1593G>A, XM_005257126.3:c.1593G>A, XM_005257126.2:c.1593G>A, XM_005257126.1:c.1593G>A, NM_001199165.4:c.2817G>A, NM_001199165.3:c.2817G>A, NM_001199165.2:c.2817G>A, NM_001199165.1:c.2817G>A, XM_005257125.4:c.1896G>A, XM_005257125.3:c.1896G>A, XM_005257125.2:c.1896G>A, XM_005257125.1:c.1896G>A, NM_145036.3:c.2817G>A, NM_001302891.3:c.2691G>A, NM_001302891.2:c.2691G>A, NM_001302891.1:c.2691G>A, XM_011524465.3:c.2127G>A, XM_011524465.2:c.2127G>A, XM_011524465.1:c.2127G>A, XM_011524466.3:c.1761G>A, XM_011524466.2:c.1761G>A, XM_011524466.1:c.1761G>A, XM_011524467.3:c.1602G>A, XM_011524467.2:c.1602G>A, XM_011524467.1:c.1602G>A, NM_001037325.3:c.585G>A, NM_001037325.2:c.585G>A, NM_001353127.2:c.2817G>A, NM_001353127.1:c.2817G>A, NM_001353129.2:c.2820G>A, NM_001353129.1:c.2820G>A, NM_001353128.2:c.2691G>A, NM_001353128.1:c.2691G>A, XM_024450634.2:c.2127G>A, XM_024450634.1:c.2127G>A, NR_126542.2:n.567G>A, NR_126542.1:n.659G>A, XM_047435530.1:c.2604G>A, XM_047435528.1:c.2607G>A, XM_047435529.1:c.2604G>A

                                    18.

                                    rs1453850647 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      17:66028405 (GRCh38)
                                      17:64024523 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:66028404:C:A
                                      Gene:
                                      CEP112 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000043/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.66028405C>A, NC_000017.10:g.64024523C>A, XM_005257119.6:c.1507G>T, XM_005257119.5:c.1507G>T, XM_005257119.4:c.1507G>T, XM_005257119.3:c.1507G>T, XM_005257119.2:c.1507G>T, XM_005257119.1:c.1507G>T, XM_005257126.5:c.280G>T, XM_005257126.4:c.280G>T, XM_005257126.3:c.280G>T, XM_005257126.2:c.280G>T, XM_005257126.1:c.280G>T, NM_001199165.4:c.1504G>T, NM_001199165.3:c.1504G>T, NM_001199165.2:c.1504G>T, NM_001199165.1:c.1504G>T, XM_006721744.4:c.1507G>T, XM_006721744.3:c.1507G>T, XM_006721744.2:c.1507G>T, XM_006721744.1:c.1507G>T, XM_005257125.4:c.583G>T, XM_005257125.3:c.583G>T, XM_005257125.2:c.583G>T, XM_005257125.1:c.583G>T, NM_145036.3:c.1504G>T, NM_001302891.3:c.1378G>T, NM_001302891.2:c.1378G>T, NM_001302891.1:c.1378G>T, XM_011524465.3:c.814G>T, XM_011524465.2:c.814G>T, XM_011524465.1:c.814G>T, XM_011524466.3:c.448G>T, XM_011524466.2:c.448G>T, XM_011524466.1:c.448G>T, XM_011524467.3:c.289G>T, XM_011524467.2:c.289G>T, XM_011524467.1:c.289G>T, NM_001353127.2:c.1504G>T, NM_001353127.1:c.1504G>T, NM_001353129.2:c.1507G>T, NM_001353129.1:c.1507G>T, NM_001353128.2:c.1378G>T, NM_001353128.1:c.1378G>T, XM_024450634.2:c.814G>T, XM_024450634.1:c.814G>T, XM_047435530.1:c.1504G>T, XM_047435525.1:c.1507G>T, XM_047435526.1:c.1504G>T, XM_047435528.1:c.1507G>T, XM_047435529.1:c.1504G>T, XR_007065280.1:n.1652G>T, XR_007065281.1:n.1652G>T, XM_047435527.1:c.1507G>T, XR_007065282.1:n.1652G>T, XP_005257176.1:p.Ala503Ser, XP_005257183.1:p.Ala94Ser, NP_001186094.1:p.Ala502Ser, XP_006721807.1:p.Ala503Ser, XP_005257182.1:p.Ala195Ser, NP_001289820.1:p.Ala460Ser, XP_011522767.1:p.Ala272Ser, XP_011522768.1:p.Ala150Ser, XP_011522769.1:p.Ala97Ser, NP_001340056.1:p.Ala502Ser, NP_001340058.1:p.Ala503Ser, NP_001340057.1:p.Ala460Ser, XP_024306402.1:p.Ala272Ser, XP_047291486.1:p.Ala502Ser, XP_047291481.1:p.Ala503Ser, XP_047291482.1:p.Ala502Ser, XP_047291484.1:p.Ala503Ser, XP_047291485.1:p.Ala502Ser, XP_047291483.1:p.Ala503Ser

                                      19.

                                      rs1450448499 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:65902300 (GRCh38)
                                        17:63898418 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:65902299:T:C
                                        Gene:
                                        CEP112 (Varview), LOC105371867 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.65902300T>C, NC_000017.10:g.63898418T>C, XM_005257119.6:c.2018A>G, XM_005257119.5:c.2018A>G, XM_005257119.4:c.2018A>G, XM_005257119.3:c.2018A>G, XM_005257119.2:c.2018A>G, XM_005257119.1:c.2018A>G, XM_005257126.5:c.791A>G, XM_005257126.4:c.791A>G, XM_005257126.3:c.791A>G, XM_005257126.2:c.791A>G, XM_005257126.1:c.791A>G, NM_001199165.4:c.2015A>G, NM_001199165.3:c.2015A>G, NM_001199165.2:c.2015A>G, NM_001199165.1:c.2015A>G, XM_006721744.4:c.2018A>G, XM_006721744.3:c.2018A>G, XM_006721744.2:c.2018A>G, XM_006721744.1:c.2018A>G, XM_005257125.4:c.1094A>G, XM_005257125.3:c.1094A>G, XM_005257125.2:c.1094A>G, XM_005257125.1:c.1094A>G, NM_145036.3:c.2015A>G, NM_001302891.3:c.1889A>G, NM_001302891.2:c.1889A>G, NM_001302891.1:c.1889A>G, XM_011524465.3:c.1325A>G, XM_011524465.2:c.1325A>G, XM_011524465.1:c.1325A>G, XM_011524466.3:c.959A>G, XM_011524466.2:c.959A>G, XM_011524466.1:c.959A>G, XM_011524467.3:c.800A>G, XM_011524467.2:c.800A>G, XM_011524467.1:c.800A>G, NM_001353127.2:c.2015A>G, NM_001353127.1:c.2015A>G, NM_001353129.2:c.2018A>G, NM_001353129.1:c.2018A>G, NM_001353128.2:c.1889A>G, NM_001353128.1:c.1889A>G, XM_024450634.2:c.1325A>G, XM_024450634.1:c.1325A>G, XM_047435530.1:c.2015A>G, XM_047435525.1:c.2018A>G, XM_047435526.1:c.2015A>G, XM_047435528.1:c.2018A>G, XM_047435529.1:c.2015A>G, XR_007065280.1:n.2163A>G, XR_007065281.1:n.2163A>G, XM_047435527.1:c.2018A>G, XR_007065282.1:n.2163A>G, XP_005257176.1:p.Lys673Arg, XP_005257183.1:p.Lys264Arg, NP_001186094.1:p.Lys672Arg, XP_006721807.1:p.Lys673Arg, XP_005257182.1:p.Lys365Arg, NP_001289820.1:p.Lys630Arg, XP_011522767.1:p.Lys442Arg, XP_011522768.1:p.Lys320Arg, XP_011522769.1:p.Lys267Arg, NP_001340056.1:p.Lys672Arg, NP_001340058.1:p.Lys673Arg, NP_001340057.1:p.Lys630Arg, XP_024306402.1:p.Lys442Arg, XP_047291486.1:p.Lys672Arg, XP_047291481.1:p.Lys673Arg, XP_047291482.1:p.Lys672Arg, XP_047291484.1:p.Lys673Arg, XP_047291485.1:p.Lys672Arg, XP_047291483.1:p.Lys673Arg

                                        20.

                                        rs1448885255 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          17:65851905 (GRCh38)
                                          17:63848023 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:65851904:C:A
                                          Gene:
                                          CEP112 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                                          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_000017.11:g.65851905C>A, NC_000017.10:g.63848023C>A, XM_005257119.6:c.2296G>T, XM_005257119.5:c.2296G>T, XM_005257119.4:c.2296G>T, XM_005257119.3:c.2296G>T, XM_005257119.2:c.2296G>T, XM_005257119.1:c.2296G>T, XM_005257126.5:c.1069G>T, XM_005257126.4:c.1069G>T, XM_005257126.3:c.1069G>T, XM_005257126.2:c.1069G>T, XM_005257126.1:c.1069G>T, NM_001199165.4:c.2293G>T, NM_001199165.3:c.2293G>T, NM_001199165.2:c.2293G>T, NM_001199165.1:c.2293G>T, XM_005257125.4:c.1372G>T, XM_005257125.3:c.1372G>T, XM_005257125.2:c.1372G>T, XM_005257125.1:c.1372G>T, NM_145036.3:c.2293G>T, NM_001302891.3:c.2167G>T, NM_001302891.2:c.2167G>T, NM_001302891.1:c.2167G>T, XM_011524465.3:c.1603G>T, XM_011524465.2:c.1603G>T, XM_011524465.1:c.1603G>T, XM_011524466.3:c.1237G>T, XM_011524466.2:c.1237G>T, XM_011524466.1:c.1237G>T, XM_011524467.3:c.1078G>T, XM_011524467.2:c.1078G>T, XM_011524467.1:c.1078G>T, NM_001353127.2:c.2293G>T, NM_001353127.1:c.2293G>T, NM_001353129.2:c.2296G>T, NM_001353129.1:c.2296G>T, NM_001353128.2:c.2167G>T, NM_001353128.1:c.2167G>T, XM_024450634.2:c.1603G>T, XM_024450634.1:c.1603G>T, XM_047435530.1:c.2293G>T, XM_047435525.1:c.2296G>T, XM_047435526.1:c.2293G>T, XM_047435528.1:c.2296G>T, XM_047435529.1:c.2293G>T, XR_007065280.1:n.2441G>T, XR_007065281.1:n.2441G>T, XM_047435527.1:c.2296G>T, XR_007065282.1:n.2441G>T, XP_005257176.1:p.Glu766Ter, XP_005257183.1:p.Glu357Ter, NP_001186094.1:p.Glu765Ter, XP_005257182.1:p.Glu458Ter, NP_001289820.1:p.Glu723Ter, XP_011522767.1:p.Glu535Ter, XP_011522768.1:p.Glu413Ter, XP_011522769.1:p.Glu360Ter, NP_001340056.1:p.Glu765Ter, NP_001340058.1:p.Glu766Ter, NP_001340057.1:p.Glu723Ter, XP_024306402.1:p.Glu535Ter, XP_047291486.1:p.Glu765Ter, XP_047291481.1:p.Glu766Ter, XP_047291482.1:p.Glu765Ter, XP_047291484.1:p.Glu766Ter, XP_047291485.1:p.Glu765Ter, XP_047291483.1:p.Glu766Ter

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