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1.

rs1490312434 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:134545812 (GRCh38)
    3:134264654 (GRCh37)
    Canonical SPDI:
    NC_000003.12:134545811:T:C
    Gene:
    CEP63 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000012/3 (GnomAD_exomes)
    C=0.000014/2 (GnomAD)
    HGVS:
    NC_000003.12:g.134545812T>C, NC_000003.11:g.134264654T>C, NG_032870.1:g.65080T>C, NM_025180.5:c.782T>C, NM_025180.4:c.782T>C, NM_025180.3:c.782T>C, NM_001353108.3:c.782T>C, NM_001353108.2:c.782T>C, NM_001353108.1:c.782T>C, NM_001042400.3:c.782T>C, NM_001042400.2:c.782T>C, NM_001042400.1:c.782T>C, NR_148352.2:n.1307T>C, NR_148352.1:n.1191T>C, NM_001353112.2:c.782T>C, NM_001353112.1:c.782T>C, NR_148353.2:n.1307T>C, NR_148353.1:n.1191T>C, NM_001353111.2:c.782T>C, NM_001353111.1:c.782T>C, NR_148354.2:n.1307T>C, NR_148354.1:n.1191T>C, NM_001353126.2:c.419T>C, NM_001353126.1:c.419T>C, NM_001353121.2:c.782T>C, NM_001353121.1:c.782T>C, NM_001353119.2:c.782T>C, NM_001353119.1:c.782T>C, NM_001353125.2:c.698T>C, NM_001353125.1:c.698T>C, NM_001042383.2:c.782T>C, NM_001042383.1:c.782T>C, NM_001353120.2:c.782T>C, NM_001353120.1:c.782T>C, NM_001353124.2:c.782T>C, NM_001353124.1:c.782T>C, NM_001042384.2:c.782T>C, NM_001042384.1:c.782T>C, NM_001353117.2:c.782T>C, NM_001353117.1:c.782T>C, NM_001353123.2:c.782T>C, NM_001353123.1:c.782T>C, NM_001353109.1:c.782T>C, NR_148355.1:n.1136T>C, NM_001353110.1:c.782T>C, NM_001353122.1:c.782T>C, NM_001353118.1:c.809T>C, NM_001353113.1:c.782T>C, XM_005247795.6:c.809T>C, XM_005247795.5:c.809T>C, XM_005247795.4:c.809T>C, XM_005247795.3:c.809T>C, XM_005247795.2:c.809T>C, XM_005247795.1:c.809T>C, XM_006713760.5:c.782T>C, XM_006713760.4:c.782T>C, XM_006713760.3:c.782T>C, XM_006713760.2:c.782T>C, XM_006713760.1:c.782T>C, XM_005247797.4:c.782T>C, XM_005247797.3:c.782T>C, XM_005247797.2:c.782T>C, XM_005247797.1:c.782T>C, XM_017007248.3:c.782T>C, XM_017007248.2:c.782T>C, XM_017007248.1:c.782T>C, XM_017007247.3:c.782T>C, XM_017007247.2:c.782T>C, XM_017007247.1:c.782T>C, XR_002959589.2:n.908T>C, XR_002959589.1:n.836T>C, XM_017007249.2:c.782T>C, XM_017007249.1:c.782T>C, XM_024453768.2:c.815T>C, XM_024453768.1:c.815T>C, XM_024453769.2:c.698T>C, XM_024453769.1:c.698T>C, XM_024453771.2:c.698T>C, XM_024453771.1:c.698T>C, XM_024453772.2:c.698T>C, XM_024453772.1:c.698T>C, XM_024453778.2:c.698T>C, XM_024453778.1:c.698T>C, XM_024453777.2:c.809T>C, XM_024453777.1:c.698T>C, XR_007095734.1:n.1117T>C, XR_007095732.1:n.908T>C, XR_007095735.1:n.953T>C, XR_007095730.1:n.803T>C, XR_007095733.1:n.1307T>C, XM_047449005.1:c.782T>C, XM_047449000.1:c.698T>C, XM_047449008.1:c.782T>C, XM_047448998.1:c.815T>C, XM_047449006.1:c.815T>C, XM_047449003.1:c.782T>C, XM_047448996.1:c.782T>C, XM_047449001.1:c.698T>C, XM_047449002.1:c.782T>C, XM_047448999.1:c.809T>C, XM_047449009.1:c.782T>C, XM_047449011.1:c.698T>C, XM_047449007.1:c.782T>C, XM_047449013.1:c.698T>C, XM_047449010.1:c.809T>C, XR_007095731.1:n.803T>C, XR_007095729.1:n.803T>C, XM_047449015.1:c.782T>C, XM_047449014.1:c.698T>C, NP_079456.2:p.Leu261Pro, NP_001340037.1:p.Leu261Pro, NP_001035859.1:p.Leu261Pro, NP_001340041.1:p.Leu261Pro, NP_001340040.1:p.Leu261Pro, NP_001340055.1:p.Leu140Pro, NP_001340050.1:p.Leu261Pro, NP_001340048.1:p.Leu261Pro, NP_001340054.1:p.Leu233Pro, NP_001035842.1:p.Leu261Pro, NP_001340049.1:p.Leu261Pro, NP_001340053.1:p.Leu261Pro, NP_001035843.1:p.Leu261Pro, NP_001340046.1:p.Leu261Pro, NP_001340052.1:p.Leu261Pro, NP_001340038.1:p.Leu261Pro, NP_001340039.1:p.Leu261Pro, NP_001340051.1:p.Leu261Pro, NP_001340047.1:p.Leu270Pro, NP_001340042.1:p.Leu261Pro, XP_005247852.1:p.Leu270Pro, XP_006713823.1:p.Leu261Pro, XP_005247854.1:p.Leu261Pro, XP_016862737.1:p.Leu261Pro, XP_016862736.1:p.Leu261Pro, XP_016862738.1:p.Leu261Pro, XP_024309536.1:p.Leu272Pro, XP_024309537.1:p.Leu233Pro, XP_024309539.1:p.Leu233Pro, XP_024309540.1:p.Leu233Pro, XP_024309546.1:p.Leu233Pro, XP_024309545.2:p.Leu270Pro, XP_047304961.1:p.Leu261Pro, XP_047304956.1:p.Leu233Pro, XP_047304964.1:p.Leu261Pro, XP_047304954.1:p.Leu272Pro, XP_047304962.1:p.Leu272Pro, XP_047304959.1:p.Leu261Pro, XP_047304952.1:p.Leu261Pro, XP_047304957.1:p.Leu233Pro, XP_047304958.1:p.Leu261Pro, XP_047304955.1:p.Leu270Pro, XP_047304965.1:p.Leu261Pro, XP_047304967.1:p.Leu233Pro, XP_047304963.1:p.Leu261Pro, XP_047304969.1:p.Leu233Pro, XP_047304966.1:p.Leu270Pro, XP_047304971.1:p.Leu261Pro, XP_047304970.1:p.Leu233Pro

    2.

    rs1488713329 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      3:134574873 (GRCh38)
      3:134293715 (GRCh37)
      Canonical SPDI:
      NC_000003.12:134574872:G:T
      Gene:
      CEP63 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1488456248 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        3:134550086 (GRCh38)
        3:134268928 (GRCh37)
        Canonical SPDI:
        NC_000003.12:134550085:T:G
        Gene:
        CEP63 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.134550086T>G, NC_000003.11:g.134268928T>G, NG_032870.1:g.69354T>G, NM_025180.5:c.1206T>G, NM_025180.4:c.1206T>G, NM_025180.3:c.1206T>G, NM_001353108.3:c.1206T>G, NM_001353108.2:c.1206T>G, NM_001353108.1:c.1206T>G, NM_001042400.3:c.1206T>G, NM_001042400.2:c.1206T>G, NM_001042400.1:c.1206T>G, NR_148352.2:n.1593T>G, NR_148352.1:n.1477T>G, NM_001353112.2:c.1206T>G, NM_001353112.1:c.1206T>G, NR_148353.2:n.1593T>G, NR_148353.1:n.1477T>G, NM_001353111.2:c.1206T>G, NM_001353111.1:c.1206T>G, NR_148354.2:n.1727T>G, NR_148354.1:n.1611T>G, NM_001353126.2:c.705T>G, NM_001353126.1:c.705T>G, NM_001353121.2:c.1068T>G, NM_001353121.1:c.1068T>G, NM_001353119.2:c.1068T>G, NM_001353119.1:c.1068T>G, NM_001353125.2:c.984T>G, NM_001353125.1:c.984T>G, NM_001042383.2:c.1068T>G, NM_001042383.1:c.1068T>G, NM_001353120.2:c.1068T>G, NM_001353120.1:c.1068T>G, NM_001353124.2:c.1068T>G, NM_001353124.1:c.1068T>G, NM_001042384.2:c.1068T>G, NM_001042384.1:c.1068T>G, NM_001353117.2:c.1206T>G, NM_001353117.1:c.1206T>G, NM_001353123.2:c.1068T>G, NM_001353123.1:c.1068T>G, NM_001353109.1:c.1068T>G, NR_148355.1:n.1422T>G, NM_001353110.1:c.1206T>G, NM_001353122.1:c.1068T>G, NM_001353118.1:c.1095T>G, NM_001353113.1:c.1206T>G, XM_005247795.6:c.1233T>G, XM_005247795.5:c.1233T>G, XM_005247795.4:c.1233T>G, XM_005247795.3:c.1233T>G, XM_005247795.2:c.1233T>G, XM_005247795.1:c.1233T>G, XM_006713760.5:c.1206T>G, XM_006713760.4:c.1206T>G, XM_006713760.3:c.1206T>G, XM_006713760.2:c.1206T>G, XM_006713760.1:c.1206T>G, XM_005247797.4:c.1206T>G, XM_005247797.3:c.1206T>G, XM_005247797.2:c.1206T>G, XM_005247797.1:c.1206T>G, XM_017007248.3:c.1068T>G, XM_017007248.2:c.1068T>G, XM_017007248.1:c.1068T>G, XM_017007247.3:c.1068T>G, XM_017007247.2:c.1068T>G, XM_017007247.1:c.1068T>G, XR_002959589.2:n.1194T>G, XR_002959589.1:n.1122T>G, XM_017007249.2:c.1068T>G, XM_017007249.1:c.1068T>G, XM_024453768.2:c.1239T>G, XM_024453768.1:c.1239T>G, XM_024453769.2:c.1122T>G, XM_024453769.1:c.1122T>G, XM_024453771.2:c.1122T>G, XM_024453771.1:c.1122T>G, XM_024453772.2:c.1122T>G, XM_024453772.1:c.1122T>G, XM_024453778.2:c.984T>G, XM_024453778.1:c.984T>G, XM_024453777.2:c.1233T>G, XM_024453777.1:c.1122T>G, XR_007095734.1:n.1403T>G, XR_007095732.1:n.1332T>G, XR_007095735.1:n.1239T>G, XR_007095730.1:n.1227T>G, XR_007095733.1:n.1731T>G, XM_047449005.1:c.1206T>G, XM_047449000.1:c.984T>G, XM_047449008.1:c.1068T>G, XM_047448998.1:c.1101T>G, XM_047449006.1:c.1101T>G, XM_047449003.1:c.1206T>G, XM_047448996.1:c.1206T>G, XM_047449001.1:c.984T>G, XM_047449002.1:c.1206T>G, XM_047448999.1:c.1095T>G, XM_047449009.1:c.1068T>G, XM_047449011.1:c.984T>G, XM_047449007.1:c.1068T>G, XM_047449013.1:c.1122T>G, XM_047449010.1:c.1233T>G, XR_007095731.1:n.1227T>G, XR_007095729.1:n.1227T>G, XM_047449015.1:c.1206T>G, XM_047449014.1:c.1122T>G

        4.

        rs1486972432 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:134550229 (GRCh38)
          3:134269071 (GRCh37)
          Canonical SPDI:
          NC_000003.12:134550228:A:G
          Gene:
          CEP63 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000142/2 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000003.12:g.134550229A>G, NC_000003.11:g.134269071A>G, NG_032870.1:g.69497A>G, NM_025180.5:c.1349A>G, NM_025180.4:c.1349A>G, NM_025180.3:c.1349A>G, NM_001353108.3:c.1349A>G, NM_001353108.2:c.1349A>G, NM_001353108.1:c.1349A>G, NM_001042400.3:c.1349A>G, NM_001042400.2:c.1349A>G, NM_001042400.1:c.1349A>G, NR_148352.2:n.1736A>G, NR_148352.1:n.1620A>G, NM_001353112.2:c.1349A>G, NM_001353112.1:c.1349A>G, NR_148353.2:n.1736A>G, NR_148353.1:n.1620A>G, NM_001353111.2:c.1349A>G, NM_001353111.1:c.1349A>G, NR_148354.2:n.1870A>G, NR_148354.1:n.1754A>G, NM_001353126.2:c.848A>G, NM_001353126.1:c.848A>G, NM_001353121.2:c.1211A>G, NM_001353121.1:c.1211A>G, NM_001353119.2:c.1211A>G, NM_001353119.1:c.1211A>G, NM_001353125.2:c.1127A>G, NM_001353125.1:c.1127A>G, NM_001042383.2:c.1211A>G, NM_001042383.1:c.1211A>G, NM_001353120.2:c.1211A>G, NM_001353120.1:c.1211A>G, NM_001353124.2:c.1211A>G, NM_001353124.1:c.1211A>G, NM_001042384.2:c.1211A>G, NM_001042384.1:c.1211A>G, NM_001353117.2:c.1349A>G, NM_001353117.1:c.1349A>G, NM_001353123.2:c.1211A>G, NM_001353123.1:c.1211A>G, NM_001353109.1:c.1211A>G, NR_148355.1:n.1565A>G, NM_001353110.1:c.1349A>G, NM_001353122.1:c.1211A>G, NM_001353118.1:c.1238A>G, NM_001353113.1:c.1349A>G, XM_005247795.6:c.1376A>G, XM_005247795.5:c.1376A>G, XM_005247795.4:c.1376A>G, XM_005247795.3:c.1376A>G, XM_005247795.2:c.1376A>G, XM_005247795.1:c.1376A>G, XM_006713760.5:c.1349A>G, XM_006713760.4:c.1349A>G, XM_006713760.3:c.1349A>G, XM_006713760.2:c.1349A>G, XM_006713760.1:c.1349A>G, XM_005247797.4:c.1349A>G, XM_005247797.3:c.1349A>G, XM_005247797.2:c.1349A>G, XM_005247797.1:c.1349A>G, XM_017007248.3:c.1211A>G, XM_017007248.2:c.1211A>G, XM_017007248.1:c.1211A>G, XM_017007247.3:c.1211A>G, XM_017007247.2:c.1211A>G, XM_017007247.1:c.1211A>G, XR_002959589.2:n.1337A>G, XR_002959589.1:n.1265A>G, XM_017007249.2:c.1211A>G, XM_017007249.1:c.1211A>G, XM_024453768.2:c.1382A>G, XM_024453768.1:c.1382A>G, XM_024453769.2:c.1265A>G, XM_024453769.1:c.1265A>G, XM_024453771.2:c.1265A>G, XM_024453771.1:c.1265A>G, XM_024453772.2:c.1265A>G, XM_024453772.1:c.1265A>G, XM_024453778.2:c.1127A>G, XM_024453778.1:c.1127A>G, XM_024453777.2:c.1376A>G, XM_024453777.1:c.1265A>G, XR_007095734.1:n.1546A>G, XR_007095732.1:n.1475A>G, XR_007095735.1:n.1382A>G, XR_007095730.1:n.1370A>G, XR_007095733.1:n.1874A>G, XM_047449005.1:c.1349A>G, XM_047449000.1:c.1127A>G, XM_047449008.1:c.1211A>G, XM_047448998.1:c.1244A>G, XM_047449006.1:c.1244A>G, XM_047449003.1:c.1349A>G, XM_047448996.1:c.1349A>G, XM_047449001.1:c.1127A>G, XM_047449002.1:c.1349A>G, XM_047448999.1:c.1238A>G, XM_047449009.1:c.1211A>G, XM_047449011.1:c.1127A>G, XM_047449007.1:c.1211A>G, XM_047449013.1:c.1265A>G, XM_047449010.1:c.1376A>G, XR_007095731.1:n.1370A>G, XR_007095729.1:n.1370A>G, XM_047449015.1:c.1349A>G, XM_047449014.1:c.1265A>G, NP_079456.2:p.Gln450Arg, NP_001340037.1:p.Gln450Arg, NP_001035859.1:p.Gln450Arg, NP_001340041.1:p.Gln450Arg, NP_001340040.1:p.Gln450Arg, NP_001340055.1:p.Gln283Arg, NP_001340050.1:p.Gln404Arg, NP_001340048.1:p.Gln404Arg, NP_001340054.1:p.Gln376Arg, NP_001035842.1:p.Gln404Arg, NP_001340049.1:p.Gln404Arg, NP_001340053.1:p.Gln404Arg, NP_001035843.1:p.Gln404Arg, NP_001340046.1:p.Gln450Arg, NP_001340052.1:p.Gln404Arg, NP_001340038.1:p.Gln404Arg, NP_001340039.1:p.Gln450Arg, NP_001340051.1:p.Gln404Arg, NP_001340047.1:p.Gln413Arg, NP_001340042.1:p.Gln450Arg, XP_005247852.1:p.Gln459Arg, XP_006713823.1:p.Gln450Arg, XP_005247854.1:p.Gln450Arg, XP_016862737.1:p.Gln404Arg, XP_016862736.1:p.Gln404Arg, XP_016862738.1:p.Gln404Arg, XP_024309536.1:p.Gln461Arg, XP_024309537.1:p.Gln422Arg, XP_024309539.1:p.Gln422Arg, XP_024309540.1:p.Gln422Arg, XP_024309546.1:p.Gln376Arg, XP_024309545.2:p.Gln459Arg, XP_047304961.1:p.Gln450Arg, XP_047304956.1:p.Gln376Arg, XP_047304964.1:p.Gln404Arg, XP_047304954.1:p.Gln415Arg, XP_047304962.1:p.Gln415Arg, XP_047304959.1:p.Gln450Arg, XP_047304952.1:p.Gln450Arg, XP_047304957.1:p.Gln376Arg, XP_047304958.1:p.Gln450Arg, XP_047304955.1:p.Gln413Arg, XP_047304965.1:p.Gln404Arg, XP_047304967.1:p.Gln376Arg, XP_047304963.1:p.Gln404Arg, XP_047304969.1:p.Gln422Arg, XP_047304966.1:p.Gln459Arg, XP_047304971.1:p.Gln450Arg, XP_047304970.1:p.Gln422Arg

          5.

          rs1483663452 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:134485821 (GRCh38)
            3:134204663 (GRCh37)
            Canonical SPDI:
            NC_000003.12:134485820:C:T
            Gene:
            ANAPC13 (Varview), CEP63 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs1481676221 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:134485884 (GRCh38)
              3:134204726 (GRCh37)
              Canonical SPDI:
              NC_000003.12:134485883:C:G
              Gene:
              ANAPC13 (Varview), CEP63 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000021/3 (GnomAD)
              G=0.000034/9 (TOPMED)
              HGVS:

              7.

              rs1479621366 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:134485936 (GRCh38)
                3:134204778 (GRCh37)
                Canonical SPDI:
                NC_000003.12:134485935:C:T
                Gene:
                ANAPC13 (Varview), CEP63 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.00005/7 (GnomAD)
                T=0.000057/15 (TOPMED)
                HGVS:

                8.

                rs1479343666 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:134485920 (GRCh38)
                  3:134204762 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:134485919:A:G
                  Gene:
                  ANAPC13 (Varview), CEP63 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1479336733 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    3:134486051 (GRCh38)
                    3:134204893 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:134486050:G:T
                    Gene:
                    ANAPC13 (Varview), CEP63 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000003.12:g.134486051G>T, NC_000003.11:g.134204893G>T, NG_032870.1:g.5319G>T, NM_001042383.2:c.-27G>T, NM_001042383.1:c.-27G>T, NM_001042384.2:c.-27G>T, NM_001042384.1:c.-27G>T, NM_001353109.1:c.-27G>T, NR_148355.1:n.328G>T, NM_001353110.1:c.-27G>T, NM_001353122.1:c.-99G>T, NM_001353118.1:c.5G>T, NM_001353113.1:c.-27G>T, XM_005247795.6:c.5G>T, XM_005247795.5:c.5G>T, XM_005247795.4:c.5G>T, XM_005247795.3:c.5G>T, XM_005247795.2:c.5G>T, XM_005247795.1:c.5G>T, XM_006713760.5:c.-27G>T, XM_006713760.4:c.-27G>T, XM_006713760.3:c.-27G>T, XM_006713760.2:c.-27G>T, XM_006713760.1:c.-27G>T, XR_002959589.2:n.100G>T, XR_002959589.1:n.28G>T, NM_001042400.2:c.-177G>T, XM_024453777.2:c.5G>T, XR_007095732.1:n.100G>T, NM_001353108.1:c.-177G>T, XM_047449002.1:c.-27G>T, XM_047448999.1:c.5G>T, XM_047449007.1:c.-27G>T, XM_047449010.1:c.5G>T, NM_001353120.1:c.-177G>T, XM_047449015.1:c.-27G>T, NM_001353117.1:c.-177G>T, NM_001353123.1:c.-177G>T, NP_001340047.1:p.Trp2Leu, XP_005247852.1:p.Trp2Leu, XP_024309545.2:p.Trp2Leu, XP_047304955.1:p.Trp2Leu, XP_047304966.1:p.Trp2Leu

                    10.

                    rs1477475300 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:134550254 (GRCh38)
                      3:134269096 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:134550253:G:A
                      Gene:
                      CEP63 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.134550254G>A, NC_000003.11:g.134269096G>A, NG_032870.1:g.69522G>A, NM_025180.5:c.1374G>A, NM_025180.4:c.1374G>A, NM_025180.3:c.1374G>A, NM_001353108.3:c.1374G>A, NM_001353108.2:c.1374G>A, NM_001353108.1:c.1374G>A, NM_001042400.3:c.1374G>A, NM_001042400.2:c.1374G>A, NM_001042400.1:c.1374G>A, NR_148352.2:n.1761G>A, NR_148352.1:n.1645G>A, NM_001353112.2:c.1374G>A, NM_001353112.1:c.1374G>A, NR_148353.2:n.1761G>A, NR_148353.1:n.1645G>A, NM_001353111.2:c.1374G>A, NM_001353111.1:c.1374G>A, NR_148354.2:n.1895G>A, NR_148354.1:n.1779G>A, NM_001353126.2:c.873G>A, NM_001353126.1:c.873G>A, NM_001353121.2:c.1236G>A, NM_001353121.1:c.1236G>A, NM_001353119.2:c.1236G>A, NM_001353119.1:c.1236G>A, NM_001353125.2:c.1152G>A, NM_001353125.1:c.1152G>A, NM_001042383.2:c.1236G>A, NM_001042383.1:c.1236G>A, NM_001353120.2:c.1236G>A, NM_001353120.1:c.1236G>A, NM_001353124.2:c.1236G>A, NM_001353124.1:c.1236G>A, NM_001042384.2:c.1236G>A, NM_001042384.1:c.1236G>A, NM_001353117.2:c.1374G>A, NM_001353117.1:c.1374G>A, NM_001353123.2:c.1236G>A, NM_001353123.1:c.1236G>A, NM_001353109.1:c.1236G>A, NR_148355.1:n.1590G>A, NM_001353110.1:c.1374G>A, NM_001353122.1:c.1236G>A, NM_001353118.1:c.1263G>A, NM_001353113.1:c.1374G>A, XM_005247795.6:c.1401G>A, XM_005247795.5:c.1401G>A, XM_005247795.4:c.1401G>A, XM_005247795.3:c.1401G>A, XM_005247795.2:c.1401G>A, XM_005247795.1:c.1401G>A, XM_006713760.5:c.1374G>A, XM_006713760.4:c.1374G>A, XM_006713760.3:c.1374G>A, XM_006713760.2:c.1374G>A, XM_006713760.1:c.1374G>A, XM_005247797.4:c.1374G>A, XM_005247797.3:c.1374G>A, XM_005247797.2:c.1374G>A, XM_005247797.1:c.1374G>A, XM_017007248.3:c.1236G>A, XM_017007248.2:c.1236G>A, XM_017007248.1:c.1236G>A, XM_017007247.3:c.1236G>A, XM_017007247.2:c.1236G>A, XM_017007247.1:c.1236G>A, XR_002959589.2:n.1362G>A, XR_002959589.1:n.1290G>A, XM_017007249.2:c.1236G>A, XM_017007249.1:c.1236G>A, XM_024453768.2:c.1407G>A, XM_024453768.1:c.1407G>A, XM_024453769.2:c.1290G>A, XM_024453769.1:c.1290G>A, XM_024453771.2:c.1290G>A, XM_024453771.1:c.1290G>A, XM_024453772.2:c.1290G>A, XM_024453772.1:c.1290G>A, XM_024453778.2:c.1152G>A, XM_024453778.1:c.1152G>A, XM_024453777.2:c.1401G>A, XM_024453777.1:c.1290G>A, XR_007095734.1:n.1571G>A, XR_007095732.1:n.1500G>A, XR_007095735.1:n.1407G>A, XR_007095730.1:n.1395G>A, XR_007095733.1:n.1899G>A, XM_047449005.1:c.1374G>A, XM_047449000.1:c.1152G>A, XM_047449008.1:c.1236G>A, XM_047448998.1:c.1269G>A, XM_047449006.1:c.1269G>A, XM_047449003.1:c.1374G>A, XM_047448996.1:c.1374G>A, XM_047449001.1:c.1152G>A, XM_047449002.1:c.1374G>A, XM_047448999.1:c.1263G>A, XM_047449009.1:c.1236G>A, XM_047449011.1:c.1152G>A, XM_047449007.1:c.1236G>A, XM_047449013.1:c.1290G>A, XM_047449010.1:c.1401G>A, XR_007095731.1:n.1395G>A, XR_007095729.1:n.1395G>A, XM_047449015.1:c.1374G>A, XM_047449014.1:c.1290G>A

                      11.

                      rs1476403052 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:134547416 (GRCh38)
                        3:134266258 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:134547415:T:C
                        Gene:
                        CEP63 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.134547416T>C, NC_000003.11:g.134266258T>C, NG_032870.1:g.66684T>C, NM_025180.5:c.1011T>C, NM_025180.4:c.1011T>C, NM_025180.3:c.1011T>C, NM_001353108.3:c.1011T>C, NM_001353108.2:c.1011T>C, NM_001353108.1:c.1011T>C, NM_001042400.3:c.1011T>C, NM_001042400.2:c.1011T>C, NM_001042400.1:c.1011T>C, NM_001353112.2:c.1011T>C, NM_001353112.1:c.1011T>C, NM_001353111.2:c.1011T>C, NM_001353111.1:c.1011T>C, NR_148354.2:n.1536T>C, NR_148354.1:n.1420T>C, NM_001353117.2:c.1011T>C, NM_001353117.1:c.1011T>C, NM_001353110.1:c.1011T>C, NM_001353113.1:c.1011T>C, XM_005247795.6:c.1038T>C, XM_005247795.5:c.1038T>C, XM_005247795.4:c.1038T>C, XM_005247795.3:c.1038T>C, XM_005247795.2:c.1038T>C, XM_005247795.1:c.1038T>C, XM_006713760.5:c.1011T>C, XM_006713760.4:c.1011T>C, XM_006713760.3:c.1011T>C, XM_006713760.2:c.1011T>C, XM_006713760.1:c.1011T>C, XM_005247797.4:c.1011T>C, XM_005247797.3:c.1011T>C, XM_005247797.2:c.1011T>C, XM_005247797.1:c.1011T>C, XM_024453768.2:c.1044T>C, XM_024453768.1:c.1044T>C, XM_024453769.2:c.927T>C, XM_024453769.1:c.927T>C, XM_024453771.2:c.927T>C, XM_024453771.1:c.927T>C, XM_024453772.2:c.927T>C, XM_024453772.1:c.927T>C, XM_024453777.2:c.1038T>C, XM_024453777.1:c.927T>C, XR_007095732.1:n.1137T>C, XR_007095730.1:n.1032T>C, XR_007095733.1:n.1536T>C, XM_047449005.1:c.1011T>C, XM_047449003.1:c.1011T>C, XM_047448996.1:c.1011T>C, XM_047449002.1:c.1011T>C, XM_047449013.1:c.927T>C, XM_047449010.1:c.1038T>C, XR_007095731.1:n.1032T>C, XR_007095729.1:n.1032T>C, XM_047449015.1:c.1011T>C, XM_047449014.1:c.927T>C

                        12.

                        rs1475000424 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:134574910 (GRCh38)
                          3:134293752 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:134574909:T:C
                          Gene:
                          CEP63 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.00003/8 (TOPMED)
                          C=0.000114/3 (GnomAD_exomes)
                          C=0.000312/2 (1000Genomes)
                          HGVS:

                          13.

                          rs1473129970 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:134485910 (GRCh38)
                            3:134204752 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:134485909:C:T
                            Gene:
                            ANAPC13 (Varview), CEP63 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1468805523 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              3:134507264 (GRCh38)
                              3:134226106 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:134507263:A:T
                              Gene:
                              CEP63 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.134507264A>T, NC_000003.11:g.134226106A>T, NG_032870.1:g.26532A>T, NM_025180.5:c.200A>T, NM_025180.4:c.200A>T, NM_025180.3:c.200A>T, NM_001353108.3:c.200A>T, NM_001353108.2:c.200A>T, NM_001353108.1:c.200A>T, NM_001042400.3:c.200A>T, NM_001042400.2:c.200A>T, NM_001042400.1:c.200A>T, NR_148352.2:n.725A>T, NR_148352.1:n.609A>T, NM_001353112.2:c.200A>T, NM_001353112.1:c.200A>T, NR_148353.2:n.725A>T, NR_148353.1:n.609A>T, NM_001353111.2:c.200A>T, NM_001353111.1:c.200A>T, NR_148354.2:n.725A>T, NR_148354.1:n.609A>T, NM_001353126.2:c.-182A>T, NM_001353126.1:c.-182A>T, NM_001353121.2:c.200A>T, NM_001353121.1:c.200A>T, NM_001353119.2:c.200A>T, NM_001353119.1:c.200A>T, NM_001353125.2:c.116A>T, NM_001353125.1:c.116A>T, NM_001042383.2:c.200A>T, NM_001042383.1:c.200A>T, NM_001353120.2:c.200A>T, NM_001353120.1:c.200A>T, NM_001353124.2:c.200A>T, NM_001353124.1:c.200A>T, NM_001042384.2:c.200A>T, NM_001042384.1:c.200A>T, NM_001353117.2:c.200A>T, NM_001353117.1:c.200A>T, NM_001353123.2:c.200A>T, NM_001353123.1:c.200A>T, NM_001353109.1:c.200A>T, NR_148355.1:n.554A>T, NM_001353110.1:c.200A>T, NM_001353122.1:c.200A>T, NM_001353118.1:c.227A>T, NM_001353113.1:c.200A>T, XM_005247795.6:c.227A>T, XM_005247795.5:c.227A>T, XM_005247795.4:c.227A>T, XM_005247795.3:c.227A>T, XM_005247795.2:c.227A>T, XM_005247795.1:c.227A>T, XM_006713760.5:c.200A>T, XM_006713760.4:c.200A>T, XM_006713760.3:c.200A>T, XM_006713760.2:c.200A>T, XM_006713760.1:c.200A>T, XM_005247797.4:c.200A>T, XM_005247797.3:c.200A>T, XM_005247797.2:c.200A>T, XM_005247797.1:c.200A>T, XM_017007248.3:c.200A>T, XM_017007248.2:c.200A>T, XM_017007248.1:c.200A>T, XM_017007247.3:c.200A>T, XM_017007247.2:c.200A>T, XM_017007247.1:c.200A>T, XR_002959589.2:n.326A>T, XR_002959589.1:n.254A>T, XM_017007249.2:c.200A>T, XM_017007249.1:c.200A>T, XM_024453768.2:c.233A>T, XM_024453768.1:c.233A>T, XM_024453769.2:c.116A>T, XM_024453769.1:c.116A>T, XM_024453771.2:c.116A>T, XM_024453771.1:c.116A>T, XM_024453772.2:c.116A>T, XM_024453772.1:c.116A>T, XM_024453778.2:c.116A>T, XM_024453778.1:c.116A>T, XM_024453777.2:c.227A>T, XM_024453777.1:c.116A>T, XR_007095734.1:n.535A>T, XR_007095732.1:n.326A>T, XR_007095735.1:n.371A>T, XR_007095730.1:n.221A>T, XR_007095733.1:n.725A>T, XM_047449005.1:c.200A>T, XM_047449000.1:c.116A>T, XM_047449008.1:c.200A>T, XM_047448998.1:c.233A>T, XM_047449006.1:c.233A>T, XM_047449003.1:c.200A>T, XM_047448996.1:c.200A>T, XM_047449001.1:c.116A>T, XM_047449002.1:c.200A>T, XM_047448999.1:c.227A>T, XM_047449009.1:c.200A>T, XM_047449011.1:c.116A>T, XM_047449007.1:c.200A>T, XM_047449013.1:c.116A>T, XM_047449010.1:c.227A>T, XR_007095731.1:n.221A>T, XR_007095729.1:n.221A>T, XM_047449015.1:c.200A>T, XM_047449014.1:c.116A>T, NP_079456.2:p.Gln67Leu, NP_001340037.1:p.Gln67Leu, NP_001035859.1:p.Gln67Leu, NP_001340041.1:p.Gln67Leu, NP_001340040.1:p.Gln67Leu, NP_001340050.1:p.Gln67Leu, NP_001340048.1:p.Gln67Leu, NP_001340054.1:p.Gln39Leu, NP_001035842.1:p.Gln67Leu, NP_001340049.1:p.Gln67Leu, NP_001340053.1:p.Gln67Leu, NP_001035843.1:p.Gln67Leu, NP_001340046.1:p.Gln67Leu, NP_001340052.1:p.Gln67Leu, NP_001340038.1:p.Gln67Leu, NP_001340039.1:p.Gln67Leu, NP_001340051.1:p.Gln67Leu, NP_001340047.1:p.Gln76Leu, NP_001340042.1:p.Gln67Leu, XP_005247852.1:p.Gln76Leu, XP_006713823.1:p.Gln67Leu, XP_005247854.1:p.Gln67Leu, XP_016862737.1:p.Gln67Leu, XP_016862736.1:p.Gln67Leu, XP_016862738.1:p.Gln67Leu, XP_024309536.1:p.Gln78Leu, XP_024309537.1:p.Gln39Leu, XP_024309539.1:p.Gln39Leu, XP_024309540.1:p.Gln39Leu, XP_024309546.1:p.Gln39Leu, XP_024309545.2:p.Gln76Leu, XP_047304961.1:p.Gln67Leu, XP_047304956.1:p.Gln39Leu, XP_047304964.1:p.Gln67Leu, XP_047304954.1:p.Gln78Leu, XP_047304962.1:p.Gln78Leu, XP_047304959.1:p.Gln67Leu, XP_047304952.1:p.Gln67Leu, XP_047304957.1:p.Gln39Leu, XP_047304958.1:p.Gln67Leu, XP_047304955.1:p.Gln76Leu, XP_047304965.1:p.Gln67Leu, XP_047304967.1:p.Gln39Leu, XP_047304963.1:p.Gln67Leu, XP_047304969.1:p.Gln39Leu, XP_047304966.1:p.Gln76Leu, XP_047304971.1:p.Gln67Leu, XP_047304970.1:p.Gln39Leu

                              15.

                              rs1468587465 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:134485771 (GRCh38)
                                3:134204613 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:134485770:C:T
                                Gene:
                                ANAPC13 (Varview), CEP63 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.000023/6 (TOPMED)
                                T=0.000354/6 (TOMMO)
                                HGVS:

                                16.

                                rs1466817080 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:134574926 (GRCh38)
                                  3:134293768 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:134574925:T:C
                                  Gene:
                                  CEP63 (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1466168915 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:134545754 (GRCh38)
                                    3:134264596 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:134545753:A:G
                                    Gene:
                                    CEP63 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0./0 (GnomAD)
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.134545754A>G, NC_000003.11:g.134264596A>G, NG_032870.1:g.65022A>G, NM_025180.5:c.724A>G, NM_025180.4:c.724A>G, NM_025180.3:c.724A>G, NM_001353108.3:c.724A>G, NM_001353108.2:c.724A>G, NM_001353108.1:c.724A>G, NM_001042400.3:c.724A>G, NM_001042400.2:c.724A>G, NM_001042400.1:c.724A>G, NR_148352.2:n.1249A>G, NR_148352.1:n.1133A>G, NM_001353112.2:c.724A>G, NM_001353112.1:c.724A>G, NR_148353.2:n.1249A>G, NR_148353.1:n.1133A>G, NM_001353111.2:c.724A>G, NM_001353111.1:c.724A>G, NR_148354.2:n.1249A>G, NR_148354.1:n.1133A>G, NM_001353126.2:c.361A>G, NM_001353126.1:c.361A>G, NM_001353121.2:c.724A>G, NM_001353121.1:c.724A>G, NM_001353119.2:c.724A>G, NM_001353119.1:c.724A>G, NM_001353125.2:c.640A>G, NM_001353125.1:c.640A>G, NM_001042383.2:c.724A>G, NM_001042383.1:c.724A>G, NM_001353120.2:c.724A>G, NM_001353120.1:c.724A>G, NM_001353124.2:c.724A>G, NM_001353124.1:c.724A>G, NM_001042384.2:c.724A>G, NM_001042384.1:c.724A>G, NM_001353117.2:c.724A>G, NM_001353117.1:c.724A>G, NM_001353123.2:c.724A>G, NM_001353123.1:c.724A>G, NM_001353109.1:c.724A>G, NR_148355.1:n.1078A>G, NM_001353110.1:c.724A>G, NM_001353122.1:c.724A>G, NM_001353118.1:c.751A>G, NM_001353113.1:c.724A>G, XM_005247795.6:c.751A>G, XM_005247795.5:c.751A>G, XM_005247795.4:c.751A>G, XM_005247795.3:c.751A>G, XM_005247795.2:c.751A>G, XM_005247795.1:c.751A>G, XM_006713760.5:c.724A>G, XM_006713760.4:c.724A>G, XM_006713760.3:c.724A>G, XM_006713760.2:c.724A>G, XM_006713760.1:c.724A>G, XM_005247797.4:c.724A>G, XM_005247797.3:c.724A>G, XM_005247797.2:c.724A>G, XM_005247797.1:c.724A>G, XM_017007248.3:c.724A>G, XM_017007248.2:c.724A>G, XM_017007248.1:c.724A>G, XM_017007247.3:c.724A>G, XM_017007247.2:c.724A>G, XM_017007247.1:c.724A>G, XR_002959589.2:n.850A>G, XR_002959589.1:n.778A>G, XM_017007249.2:c.724A>G, XM_017007249.1:c.724A>G, XM_024453768.2:c.757A>G, XM_024453768.1:c.757A>G, XM_024453769.2:c.640A>G, XM_024453769.1:c.640A>G, XM_024453771.2:c.640A>G, XM_024453771.1:c.640A>G, XM_024453772.2:c.640A>G, XM_024453772.1:c.640A>G, XM_024453778.2:c.640A>G, XM_024453778.1:c.640A>G, XM_024453777.2:c.751A>G, XM_024453777.1:c.640A>G, XR_007095734.1:n.1059A>G, XR_007095732.1:n.850A>G, XR_007095735.1:n.895A>G, XR_007095730.1:n.745A>G, XR_007095733.1:n.1249A>G, XM_047449005.1:c.724A>G, XM_047449000.1:c.640A>G, XM_047449008.1:c.724A>G, XM_047448998.1:c.757A>G, XM_047449006.1:c.757A>G, XM_047449003.1:c.724A>G, XM_047448996.1:c.724A>G, XM_047449001.1:c.640A>G, XM_047449002.1:c.724A>G, XM_047448999.1:c.751A>G, XM_047449009.1:c.724A>G, XM_047449011.1:c.640A>G, XM_047449007.1:c.724A>G, XM_047449013.1:c.640A>G, XM_047449010.1:c.751A>G, XR_007095731.1:n.745A>G, XR_007095729.1:n.745A>G, XM_047449015.1:c.724A>G, XM_047449014.1:c.640A>G, NP_079456.2:p.Met242Val, NP_001340037.1:p.Met242Val, NP_001035859.1:p.Met242Val, NP_001340041.1:p.Met242Val, NP_001340040.1:p.Met242Val, NP_001340055.1:p.Met121Val, NP_001340050.1:p.Met242Val, NP_001340048.1:p.Met242Val, NP_001340054.1:p.Met214Val, NP_001035842.1:p.Met242Val, NP_001340049.1:p.Met242Val, NP_001340053.1:p.Met242Val, NP_001035843.1:p.Met242Val, NP_001340046.1:p.Met242Val, NP_001340052.1:p.Met242Val, NP_001340038.1:p.Met242Val, NP_001340039.1:p.Met242Val, NP_001340051.1:p.Met242Val, NP_001340047.1:p.Met251Val, NP_001340042.1:p.Met242Val, XP_005247852.1:p.Met251Val, XP_006713823.1:p.Met242Val, XP_005247854.1:p.Met242Val, XP_016862737.1:p.Met242Val, XP_016862736.1:p.Met242Val, XP_016862738.1:p.Met242Val, XP_024309536.1:p.Met253Val, XP_024309537.1:p.Met214Val, XP_024309539.1:p.Met214Val, XP_024309540.1:p.Met214Val, XP_024309546.1:p.Met214Val, XP_024309545.2:p.Met251Val, XP_047304961.1:p.Met242Val, XP_047304956.1:p.Met214Val, XP_047304964.1:p.Met242Val, XP_047304954.1:p.Met253Val, XP_047304962.1:p.Met253Val, XP_047304959.1:p.Met242Val, XP_047304952.1:p.Met242Val, XP_047304957.1:p.Met214Val, XP_047304958.1:p.Met242Val, XP_047304955.1:p.Met251Val, XP_047304965.1:p.Met242Val, XP_047304967.1:p.Met214Val, XP_047304963.1:p.Met242Val, XP_047304969.1:p.Met214Val, XP_047304966.1:p.Met251Val, XP_047304971.1:p.Met242Val, XP_047304970.1:p.Met214Val

                                    18.

                                    rs1464049852 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:134495359 (GRCh38)
                                      3:134214201 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:134495358:T:C
                                      Gene:
                                      CEP63 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.134495359T>C, NC_000003.11:g.134214201T>C, NG_032870.1:g.14627T>C, NM_025180.5:c.39T>C, NM_025180.4:c.39T>C, NM_025180.3:c.39T>C, NM_001353108.3:c.39T>C, NM_001353108.2:c.39T>C, NM_001353108.1:c.39T>C, NM_001042400.3:c.39T>C, NM_001042400.2:c.39T>C, NM_001042400.1:c.39T>C, NR_148352.2:n.564T>C, NR_148352.1:n.448T>C, NM_001353112.2:c.39T>C, NM_001353112.1:c.39T>C, NR_148353.2:n.564T>C, NR_148353.1:n.448T>C, NM_001353111.2:c.39T>C, NM_001353111.1:c.39T>C, NR_148354.2:n.564T>C, NR_148354.1:n.448T>C, NM_001353126.2:c.-343T>C, NM_001353126.1:c.-343T>C, NM_001353121.2:c.39T>C, NM_001353121.1:c.39T>C, NM_001353119.2:c.39T>C, NM_001353119.1:c.39T>C, NM_001353125.2:c.-42T>C, NM_001353125.1:c.-42T>C, NM_001042383.2:c.39T>C, NM_001042383.1:c.39T>C, NM_001353120.2:c.39T>C, NM_001353120.1:c.39T>C, NM_001353124.2:c.39T>C, NM_001353124.1:c.39T>C, NM_001042384.2:c.39T>C, NM_001042384.1:c.39T>C, NM_001353117.2:c.39T>C, NM_001353117.1:c.39T>C, NM_001353123.2:c.39T>C, NM_001353123.1:c.39T>C, NM_001353109.1:c.39T>C, NR_148355.1:n.393T>C, NM_001353110.1:c.39T>C, NM_001353122.1:c.39T>C, NM_001353118.1:c.70T>C, NM_001353113.1:c.39T>C, XM_005247795.6:c.70T>C, XM_005247795.5:c.70T>C, XM_005247795.4:c.70T>C, XM_005247795.3:c.70T>C, XM_005247795.2:c.70T>C, XM_005247795.1:c.70T>C, XM_006713760.5:c.39T>C, XM_006713760.4:c.39T>C, XM_006713760.3:c.39T>C, XM_006713760.2:c.39T>C, XM_006713760.1:c.39T>C, XM_005247797.4:c.39T>C, XM_005247797.3:c.39T>C, XM_005247797.2:c.39T>C, XM_005247797.1:c.39T>C, XM_017007248.3:c.39T>C, XM_017007248.2:c.39T>C, XM_017007248.1:c.39T>C, XM_017007247.3:c.39T>C, XM_017007247.2:c.39T>C, XM_017007247.1:c.39T>C, XR_002959589.2:n.165T>C, XR_002959589.1:n.93T>C, XM_017007249.2:c.39T>C, XM_017007249.1:c.39T>C, XM_024453768.2:c.72T>C, XM_024453768.1:c.72T>C, XM_024453769.2:c.-42T>C, XM_024453769.1:c.-42T>C, XM_024453771.2:c.-42T>C, XM_024453771.1:c.-42T>C, XM_024453772.2:c.-42T>C, XM_024453772.1:c.-42T>C, XM_024453778.2:c.-42T>C, XM_024453778.1:c.-42T>C, XM_024453777.2:c.70T>C, XM_024453777.1:c.-42T>C, XR_007095734.1:n.374T>C, XR_007095732.1:n.165T>C, XR_007095735.1:n.210T>C, XR_007095730.1:n.64T>C, XR_007095733.1:n.564T>C, XM_047449005.1:c.39T>C, XM_047449000.1:c.-42T>C, XM_047449008.1:c.39T>C, XM_047448998.1:c.72T>C, XM_047449006.1:c.72T>C, XM_047449003.1:c.39T>C, XM_047448996.1:c.39T>C, XM_047449001.1:c.-42T>C, XM_047449002.1:c.39T>C, XM_047448999.1:c.70T>C, XM_047449009.1:c.39T>C, XM_047449011.1:c.-42T>C, XM_047449007.1:c.39T>C, XM_047449013.1:c.-42T>C, XM_047449010.1:c.70T>C, XR_007095731.1:n.64T>C, XR_007095729.1:n.64T>C, XM_047449015.1:c.39T>C, XM_047449014.1:c.-42T>C, NP_001340047.1:p.Trp24Arg, XP_005247852.1:p.Trp24Arg, XP_024309545.2:p.Trp24Arg, XP_047304955.1:p.Trp24Arg, XP_047304966.1:p.Trp24Arg

                                      19.

                                      rs1463407901 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        3:134495322 (GRCh38)
                                        3:134214164 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:134495321:T:G
                                        Gene:
                                        CEP63 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,initiator_codon_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.134495322T>G, NC_000003.11:g.134214164T>G, NG_032870.1:g.14590T>G, NM_025180.5:c.2T>G, NM_025180.4:c.2T>G, NM_025180.3:c.2T>G, NM_001353108.3:c.2T>G, NM_001353108.2:c.2T>G, NM_001353108.1:c.2T>G, NM_001042400.3:c.2T>G, NM_001042400.2:c.2T>G, NM_001042400.1:c.2T>G, NR_148352.2:n.527T>G, NR_148352.1:n.411T>G, NM_001353112.2:c.2T>G, NM_001353112.1:c.2T>G, NR_148353.2:n.527T>G, NR_148353.1:n.411T>G, NM_001353111.2:c.2T>G, NM_001353111.1:c.2T>G, NR_148354.2:n.527T>G, NR_148354.1:n.411T>G, NM_001353126.2:c.-380T>G, NM_001353126.1:c.-380T>G, NM_001353121.2:c.2T>G, NM_001353121.1:c.2T>G, NM_001353119.2:c.2T>G, NM_001353119.1:c.2T>G, NM_001353125.2:c.-79T>G, NM_001353125.1:c.-79T>G, NM_001042383.2:c.2T>G, NM_001042383.1:c.2T>G, NM_001353120.2:c.2T>G, NM_001353120.1:c.2T>G, NM_001353124.2:c.2T>G, NM_001353124.1:c.2T>G, NM_001042384.2:c.2T>G, NM_001042384.1:c.2T>G, NM_001353117.2:c.2T>G, NM_001353117.1:c.2T>G, NM_001353123.2:c.2T>G, NM_001353123.1:c.2T>G, NM_001353109.1:c.2T>G, NR_148355.1:n.356T>G, NM_001353110.1:c.2T>G, NM_001353122.1:c.2T>G, NM_001353118.1:c.33T>G, NM_001353113.1:c.2T>G, XM_005247795.6:c.33T>G, XM_005247795.5:c.33T>G, XM_005247795.4:c.33T>G, XM_005247795.3:c.33T>G, XM_005247795.2:c.33T>G, XM_005247795.1:c.33T>G, XM_006713760.5:c.2T>G, XM_006713760.4:c.2T>G, XM_006713760.3:c.2T>G, XM_006713760.2:c.2T>G, XM_006713760.1:c.2T>G, XM_005247797.4:c.2T>G, XM_005247797.3:c.2T>G, XM_005247797.2:c.2T>G, XM_005247797.1:c.2T>G, XM_017007248.3:c.2T>G, XM_017007248.2:c.2T>G, XM_017007248.1:c.2T>G, XM_017007247.3:c.2T>G, XM_017007247.2:c.2T>G, XM_017007247.1:c.2T>G, XR_002959589.2:n.128T>G, XR_002959589.1:n.56T>G, XM_017007249.2:c.2T>G, XM_017007249.1:c.2T>G, XM_024453768.2:c.35T>G, XM_024453768.1:c.35T>G, XM_024453769.2:c.-79T>G, XM_024453769.1:c.-79T>G, XM_024453771.2:c.-79T>G, XM_024453771.1:c.-79T>G, XM_024453772.2:c.-79T>G, XM_024453772.1:c.-79T>G, XM_024453778.2:c.-79T>G, XM_024453778.1:c.-79T>G, XM_024453777.2:c.33T>G, XM_024453777.1:c.-79T>G, XR_007095734.1:n.337T>G, XR_007095732.1:n.128T>G, XR_007095735.1:n.173T>G, XR_007095730.1:n.27T>G, XR_007095733.1:n.527T>G, XM_047449005.1:c.2T>G, XM_047449000.1:c.-79T>G, XM_047449008.1:c.2T>G, XM_047448998.1:c.35T>G, XM_047449006.1:c.35T>G, XM_047449003.1:c.2T>G, XM_047448996.1:c.2T>G, XM_047449001.1:c.-79T>G, XM_047449002.1:c.2T>G, XM_047448999.1:c.33T>G, XM_047449009.1:c.2T>G, XM_047449011.1:c.-79T>G, XM_047449007.1:c.2T>G, XM_047449013.1:c.-79T>G, XM_047449010.1:c.33T>G, XR_007095731.1:n.27T>G, XR_007095729.1:n.27T>G, XM_047449015.1:c.2T>G, XM_047449014.1:c.-79T>G, NP_079456.2:p.Met1Arg, NP_001340037.1:p.Met1Arg, NP_001035859.1:p.Met1Arg, NP_001340041.1:p.Met1Arg, NP_001340040.1:p.Met1Arg, NP_001340050.1:p.Met1Arg, NP_001340048.1:p.Met1Arg, NP_001035842.1:p.Met1Arg, NP_001340049.1:p.Met1Arg, NP_001340053.1:p.Met1Arg, NP_001035843.1:p.Met1Arg, NP_001340046.1:p.Met1Arg, NP_001340052.1:p.Met1Arg, NP_001340038.1:p.Met1Arg, NP_001340039.1:p.Met1Arg, NP_001340051.1:p.Met1Arg, NP_001340047.1:p.Asp11Glu, NP_001340042.1:p.Met1Arg, XP_005247852.1:p.Asp11Glu, XP_006713823.1:p.Met1Arg, XP_005247854.1:p.Met1Arg, XP_016862737.1:p.Met1Arg, XP_016862736.1:p.Met1Arg, XP_016862738.1:p.Met1Arg, XP_024309536.1:p.Met12Arg, XP_024309545.2:p.Asp11Glu, XP_047304961.1:p.Met1Arg, XP_047304964.1:p.Met1Arg, XP_047304954.1:p.Met12Arg, XP_047304962.1:p.Met12Arg, XP_047304959.1:p.Met1Arg, XP_047304952.1:p.Met1Arg, XP_047304958.1:p.Met1Arg, XP_047304955.1:p.Asp11Glu, XP_047304965.1:p.Met1Arg, XP_047304963.1:p.Met1Arg, XP_047304966.1:p.Asp11Glu, XP_047304971.1:p.Met1Arg

                                        20.

                                        rs1463148234 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          3:134546226 (GRCh38)
                                          3:134265068 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:134546225:A:C
                                          Gene:
                                          CEP63 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.134546226A>C, NC_000003.11:g.134265068A>C, NG_032870.1:g.65494A>C, NM_025180.5:c.867A>C, NM_025180.4:c.867A>C, NM_025180.3:c.867A>C, NM_001353108.3:c.867A>C, NM_001353108.2:c.867A>C, NM_001353108.1:c.867A>C, NM_001042400.3:c.867A>C, NM_001042400.2:c.867A>C, NM_001042400.1:c.867A>C, NR_148352.2:n.1392A>C, NR_148352.1:n.1276A>C, NM_001353112.2:c.867A>C, NM_001353112.1:c.867A>C, NR_148353.2:n.1392A>C, NR_148353.1:n.1276A>C, NM_001353111.2:c.867A>C, NM_001353111.1:c.867A>C, NR_148354.2:n.1392A>C, NR_148354.1:n.1276A>C, NM_001353126.2:c.504A>C, NM_001353126.1:c.504A>C, NM_001353121.2:c.867A>C, NM_001353121.1:c.867A>C, NM_001353119.2:c.867A>C, NM_001353119.1:c.867A>C, NM_001353125.2:c.783A>C, NM_001353125.1:c.783A>C, NM_001042383.2:c.867A>C, NM_001042383.1:c.867A>C, NM_001353120.2:c.867A>C, NM_001353120.1:c.867A>C, NM_001353124.2:c.867A>C, NM_001353124.1:c.867A>C, NM_001042384.2:c.867A>C, NM_001042384.1:c.867A>C, NM_001353117.2:c.867A>C, NM_001353117.1:c.867A>C, NM_001353123.2:c.867A>C, NM_001353123.1:c.867A>C, NM_001353109.1:c.867A>C, NR_148355.1:n.1221A>C, NM_001353110.1:c.867A>C, NM_001353122.1:c.867A>C, NM_001353118.1:c.894A>C, NM_001353113.1:c.867A>C, XM_005247795.6:c.894A>C, XM_005247795.5:c.894A>C, XM_005247795.4:c.894A>C, XM_005247795.3:c.894A>C, XM_005247795.2:c.894A>C, XM_005247795.1:c.894A>C, XM_006713760.5:c.867A>C, XM_006713760.4:c.867A>C, XM_006713760.3:c.867A>C, XM_006713760.2:c.867A>C, XM_006713760.1:c.867A>C, XM_005247797.4:c.867A>C, XM_005247797.3:c.867A>C, XM_005247797.2:c.867A>C, XM_005247797.1:c.867A>C, XM_017007248.3:c.867A>C, XM_017007248.2:c.867A>C, XM_017007248.1:c.867A>C, XM_017007247.3:c.867A>C, XM_017007247.2:c.867A>C, XM_017007247.1:c.867A>C, XR_002959589.2:n.993A>C, XR_002959589.1:n.921A>C, XM_017007249.2:c.867A>C, XM_017007249.1:c.867A>C, XM_024453768.2:c.900A>C, XM_024453768.1:c.900A>C, XM_024453769.2:c.783A>C, XM_024453769.1:c.783A>C, XM_024453771.2:c.783A>C, XM_024453771.1:c.783A>C, XM_024453772.2:c.783A>C, XM_024453772.1:c.783A>C, XM_024453778.2:c.783A>C, XM_024453778.1:c.783A>C, XM_024453777.2:c.894A>C, XM_024453777.1:c.783A>C, XR_007095734.1:n.1202A>C, XR_007095732.1:n.993A>C, XR_007095735.1:n.1038A>C, XR_007095730.1:n.888A>C, XR_007095733.1:n.1392A>C, XM_047449005.1:c.867A>C, XM_047449000.1:c.783A>C, XM_047449008.1:c.867A>C, XM_047448998.1:c.900A>C, XM_047449006.1:c.900A>C, XM_047449003.1:c.867A>C, XM_047448996.1:c.867A>C, XM_047449001.1:c.783A>C, XM_047449002.1:c.867A>C, XM_047448999.1:c.894A>C, XM_047449009.1:c.867A>C, XM_047449011.1:c.783A>C, XM_047449007.1:c.867A>C, XM_047449013.1:c.783A>C, XM_047449010.1:c.894A>C, XR_007095731.1:n.888A>C, XR_007095729.1:n.888A>C, XM_047449015.1:c.867A>C, XM_047449014.1:c.783A>C, NP_079456.2:p.Gln289His, NP_001340037.1:p.Gln289His, NP_001035859.1:p.Gln289His, NP_001340041.1:p.Gln289His, NP_001340040.1:p.Gln289His, NP_001340055.1:p.Gln168His, NP_001340050.1:p.Gln289His, NP_001340048.1:p.Gln289His, NP_001340054.1:p.Gln261His, NP_001035842.1:p.Gln289His, NP_001340049.1:p.Gln289His, NP_001340053.1:p.Gln289His, NP_001035843.1:p.Gln289His, NP_001340046.1:p.Gln289His, NP_001340052.1:p.Gln289His, NP_001340038.1:p.Gln289His, NP_001340039.1:p.Gln289His, NP_001340051.1:p.Gln289His, NP_001340047.1:p.Gln298His, NP_001340042.1:p.Gln289His, XP_005247852.1:p.Gln298His, XP_006713823.1:p.Gln289His, XP_005247854.1:p.Gln289His, XP_016862737.1:p.Gln289His, XP_016862736.1:p.Gln289His, XP_016862738.1:p.Gln289His, XP_024309536.1:p.Gln300His, XP_024309537.1:p.Gln261His, XP_024309539.1:p.Gln261His, XP_024309540.1:p.Gln261His, XP_024309546.1:p.Gln261His, XP_024309545.2:p.Gln298His, XP_047304961.1:p.Gln289His, XP_047304956.1:p.Gln261His, XP_047304964.1:p.Gln289His, XP_047304954.1:p.Gln300His, XP_047304962.1:p.Gln300His, XP_047304959.1:p.Gln289His, XP_047304952.1:p.Gln289His, XP_047304957.1:p.Gln261His, XP_047304958.1:p.Gln289His, XP_047304955.1:p.Gln298His, XP_047304965.1:p.Gln289His, XP_047304967.1:p.Gln261His, XP_047304963.1:p.Gln289His, XP_047304969.1:p.Gln261His, XP_047304966.1:p.Gln298His, XP_047304971.1:p.Gln289His, XP_047304970.1:p.Gln261His

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