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Items: 1 to 20 of 460

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.

    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

      3.

      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

        4.

        rs1479947118 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:134561405 (GRCh38)
          3:134280247 (GRCh37)
          Canonical SPDI:
          NC_000003.12:134561404:C:T
          Gene:
          CEP63 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000034/9 (TOPMED)
          HGVS:
          NC_000003.12:g.134561405C>T, NC_000003.11:g.134280247C>T, NG_032870.1:g.80673C>T, NM_025180.5:c.1982C>T, NM_025180.4:c.1982C>T, NM_025180.3:c.1982C>T, NM_001353108.3:c.1982C>T, NM_001353108.2:c.1982C>T, NM_001353108.1:c.1982C>T, NM_001042400.3:c.1496C>T, NM_001042400.2:c.1496C>T, NM_001042400.1:c.1496C>T, NR_148352.2:n.2163C>T, NR_148352.1:n.2047C>T, NM_001353112.2:c.1496C>T, NM_001353112.1:c.1496C>T, NR_148353.2:n.2039C>T, NR_148353.1:n.1923C>T, NM_001353111.2:c.1496C>T, NM_001353111.1:c.1496C>T, NR_148354.2:n.2017C>T, NR_148354.1:n.1901C>T, NM_001353126.2:c.995C>T, NM_001353126.1:c.995C>T, NM_001353121.2:c.1358C>T, NM_001353121.1:c.1358C>T, NM_001353119.2:c.1358C>T, NM_001353119.1:c.1358C>T, NM_001353125.2:c.1274C>T, NM_001353125.1:c.1274C>T, NM_001042383.2:c.1358C>T, NM_001042383.1:c.1358C>T, NM_001353120.2:c.1358C>T, NM_001353120.1:c.1358C>T, NM_001353109.1:c.1844C>T, NR_148355.1:n.1868C>T, NM_001353110.1:c.1496C>T, NM_001353122.1:c.1358C>T, NM_001353118.1:c.1385C>T, XM_005247795.6:c.2009C>T, XM_005247795.5:c.2009C>T, XM_005247795.4:c.2009C>T, XM_005247795.3:c.2009C>T, XM_005247795.2:c.2009C>T, XM_005247795.1:c.2009C>T, XM_006713760.5:c.1982C>T, XM_006713760.4:c.1982C>T, XM_006713760.3:c.1982C>T, XM_006713760.2:c.1982C>T, XM_006713760.1:c.1982C>T, XM_005247797.4:c.1982C>T, XM_005247797.3:c.1982C>T, XM_005247797.2:c.1982C>T, XM_005247797.1:c.1982C>T, XM_017007248.3:c.1844C>T, XM_017007248.2:c.1844C>T, XM_017007248.1:c.1844C>T, XM_017007247.3:c.1844C>T, XM_017007247.2:c.1844C>T, XM_017007247.1:c.1844C>T, XM_017007249.2:c.1844C>T, XM_017007249.1:c.1844C>T, XM_024453768.2:c.2015C>T, XM_024453768.1:c.2015C>T, XM_024453769.2:c.1898C>T, XM_024453769.1:c.1898C>T, XM_024453771.2:c.1898C>T, XM_024453771.1:c.1898C>T, XM_024453772.2:c.1774C>T, XM_024453772.1:c.1774C>T, XM_024453778.2:c.1274C>T, XM_024453778.1:c.1274C>T, XM_047449005.1:c.1858C>T, XM_047449000.1:c.1760C>T, XM_047449008.1:c.1720C>T, XM_047448998.1:c.1877C>T, XM_047449006.1:c.1753C>T, XM_047449003.1:c.1858C>T, XM_047448996.1:c.1982C>T, XM_047449001.1:c.1760C>T, XM_047449002.1:c.1858C>T, XM_047448999.1:c.1871C>T, XM_047449009.1:c.1720C>T, XM_047449011.1:c.1636C>T, XM_047449007.1:c.1720C>T, XM_047449013.1:c.1412C>T, XM_047449010.1:c.1523C>T, NP_079456.2:p.Ser661Leu, NP_001340037.1:p.Ser661Leu, NP_001035859.1:p.Ser499Leu, NP_001340041.1:p.Ser499Leu, NP_001340040.1:p.Ser499Leu, NP_001340055.1:p.Ser332Leu, NP_001340050.1:p.Ser453Leu, NP_001340048.1:p.Ser453Leu, NP_001340054.1:p.Ser425Leu, NP_001035842.1:p.Ser453Leu, NP_001340049.1:p.Ser453Leu, NP_001340038.1:p.Ser615Leu, NP_001340039.1:p.Ser499Leu, NP_001340051.1:p.Ser453Leu, NP_001340047.1:p.Ser462Leu, XP_005247852.1:p.Ser670Leu, XP_006713823.1:p.Ser661Leu, XP_005247854.1:p.Ser661Leu, XP_016862737.1:p.Ser615Leu, XP_016862736.1:p.Ser615Leu, XP_016862738.1:p.Ser615Leu, XP_024309536.1:p.Ser672Leu, XP_024309537.1:p.Ser633Leu, XP_024309539.1:p.Ser633Leu, XP_024309540.1:p.Gln592Ter, XP_024309546.1:p.Ser425Leu, XP_047304961.1:p.Gln620Ter, XP_047304956.1:p.Ser587Leu, XP_047304964.1:p.Gln574Ter, XP_047304954.1:p.Ser626Leu, XP_047304962.1:p.Gln585Ter, XP_047304959.1:p.Gln620Ter, XP_047304952.1:p.Ser661Leu, XP_047304957.1:p.Ser587Leu, XP_047304958.1:p.Gln620Ter, XP_047304955.1:p.Ser624Leu, XP_047304965.1:p.Gln574Ter, XP_047304967.1:p.Gln546Ter, XP_047304963.1:p.Gln574Ter, XP_047304969.1:p.Ser471Leu, XP_047304966.1:p.Ser508Leu

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    rs1462461707 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:134532835 (GRCh38)
                      3:134251677 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:134532834: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=0.000004/1 (TOPMED)
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.134532835A>G, NC_000003.11:g.134251677A>G, NG_032870.1:g.52103A>G, NM_025180.5:c.376A>G, NM_025180.4:c.376A>G, NM_025180.3:c.376A>G, NM_001353108.3:c.376A>G, NM_001353108.2:c.376A>G, NM_001353108.1:c.376A>G, NM_001042400.3:c.376A>G, NM_001042400.2:c.376A>G, NM_001042400.1:c.376A>G, NR_148352.2:n.901A>G, NR_148352.1:n.785A>G, NM_001353112.2:c.376A>G, NM_001353112.1:c.376A>G, NR_148353.2:n.901A>G, NR_148353.1:n.785A>G, NM_001353111.2:c.376A>G, NM_001353111.1:c.376A>G, NR_148354.2:n.901A>G, NR_148354.1:n.785A>G, NM_001353126.2:c.13A>G, NM_001353126.1:c.13A>G, NM_001353121.2:c.376A>G, NM_001353121.1:c.376A>G, NM_001353119.2:c.376A>G, NM_001353119.1:c.376A>G, NM_001353125.2:c.292A>G, NM_001353125.1:c.292A>G, NM_001042383.2:c.376A>G, NM_001042383.1:c.376A>G, NM_001353120.2:c.376A>G, NM_001353120.1:c.376A>G, NM_001353124.2:c.376A>G, NM_001353124.1:c.376A>G, NM_001042384.2:c.376A>G, NM_001042384.1:c.376A>G, NM_001353117.2:c.376A>G, NM_001353117.1:c.376A>G, NM_001353123.2:c.376A>G, NM_001353123.1:c.376A>G, NM_001353109.1:c.376A>G, NR_148355.1:n.730A>G, NM_001353110.1:c.376A>G, NM_001353122.1:c.376A>G, NM_001353118.1:c.403A>G, NM_001353113.1:c.376A>G, XM_005247795.6:c.403A>G, XM_005247795.5:c.403A>G, XM_005247795.4:c.403A>G, XM_005247795.3:c.403A>G, XM_005247795.2:c.403A>G, XM_005247795.1:c.403A>G, XM_006713760.5:c.376A>G, XM_006713760.4:c.376A>G, XM_006713760.3:c.376A>G, XM_006713760.2:c.376A>G, XM_006713760.1:c.376A>G, XM_005247797.4:c.376A>G, XM_005247797.3:c.376A>G, XM_005247797.2:c.376A>G, XM_005247797.1:c.376A>G, XM_017007248.3:c.376A>G, XM_017007248.2:c.376A>G, XM_017007248.1:c.376A>G, XM_017007247.3:c.376A>G, XM_017007247.2:c.376A>G, XM_017007247.1:c.376A>G, XR_002959589.2:n.502A>G, XR_002959589.1:n.430A>G, XM_017007249.2:c.376A>G, XM_017007249.1:c.376A>G, XM_024453768.2:c.409A>G, XM_024453768.1:c.409A>G, XM_024453769.2:c.292A>G, XM_024453769.1:c.292A>G, XM_024453771.2:c.292A>G, XM_024453771.1:c.292A>G, XM_024453772.2:c.292A>G, XM_024453772.1:c.292A>G, XM_024453778.2:c.292A>G, XM_024453778.1:c.292A>G, XM_024453777.2:c.403A>G, XM_024453777.1:c.292A>G, XR_007095734.1:n.711A>G, XR_007095732.1:n.502A>G, XR_007095735.1:n.547A>G, XR_007095730.1:n.397A>G, XR_007095733.1:n.901A>G, XM_047449005.1:c.376A>G, XM_047449000.1:c.292A>G, XM_047449008.1:c.376A>G, XM_047448998.1:c.409A>G, XM_047449006.1:c.409A>G, XM_047449003.1:c.376A>G, XM_047448996.1:c.376A>G, XM_047449001.1:c.292A>G, XM_047449002.1:c.376A>G, XM_047448999.1:c.403A>G, XM_047449009.1:c.376A>G, XM_047449011.1:c.292A>G, XM_047449007.1:c.376A>G, XM_047449013.1:c.292A>G, XM_047449010.1:c.403A>G, XR_007095731.1:n.397A>G, XR_007095729.1:n.397A>G, XM_047449015.1:c.376A>G, XM_047449014.1:c.292A>G, NP_079456.2:p.Arg126Gly, NP_001340037.1:p.Arg126Gly, NP_001035859.1:p.Arg126Gly, NP_001340041.1:p.Arg126Gly, NP_001340040.1:p.Arg126Gly, NP_001340055.1:p.Arg5Gly, NP_001340050.1:p.Arg126Gly, NP_001340048.1:p.Arg126Gly, NP_001340054.1:p.Arg98Gly, NP_001035842.1:p.Arg126Gly, NP_001340049.1:p.Arg126Gly, NP_001340053.1:p.Arg126Gly, NP_001035843.1:p.Arg126Gly, NP_001340046.1:p.Arg126Gly, NP_001340052.1:p.Arg126Gly, NP_001340038.1:p.Arg126Gly, NP_001340039.1:p.Arg126Gly, NP_001340051.1:p.Arg126Gly, NP_001340047.1:p.Arg135Gly, NP_001340042.1:p.Arg126Gly, XP_005247852.1:p.Arg135Gly, XP_006713823.1:p.Arg126Gly, XP_005247854.1:p.Arg126Gly, XP_016862737.1:p.Arg126Gly, XP_016862736.1:p.Arg126Gly, XP_016862738.1:p.Arg126Gly, XP_024309536.1:p.Arg137Gly, XP_024309537.1:p.Arg98Gly, XP_024309539.1:p.Arg98Gly, XP_024309540.1:p.Arg98Gly, XP_024309546.1:p.Arg98Gly, XP_024309545.2:p.Arg135Gly, XP_047304961.1:p.Arg126Gly, XP_047304956.1:p.Arg98Gly, XP_047304964.1:p.Arg126Gly, XP_047304954.1:p.Arg137Gly, XP_047304962.1:p.Arg137Gly, XP_047304959.1:p.Arg126Gly, XP_047304952.1:p.Arg126Gly, XP_047304957.1:p.Arg98Gly, XP_047304958.1:p.Arg126Gly, XP_047304955.1:p.Arg135Gly, XP_047304965.1:p.Arg126Gly, XP_047304967.1:p.Arg98Gly, XP_047304963.1:p.Arg126Gly, XP_047304969.1:p.Arg98Gly, XP_047304966.1:p.Arg135Gly, XP_047304971.1:p.Arg126Gly, XP_047304970.1:p.Arg98Gly

                      11.

                      rs1462064352 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:134550183 (GRCh38)
                        3:134269025 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:134550182:A:G
                        Gene:
                        CEP63 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.134550183A>G, NC_000003.11:g.134269025A>G, NG_032870.1:g.69451A>G, NM_025180.5:c.1303A>G, NM_025180.4:c.1303A>G, NM_025180.3:c.1303A>G, NM_001353108.3:c.1303A>G, NM_001353108.2:c.1303A>G, NM_001353108.1:c.1303A>G, NM_001042400.3:c.1303A>G, NM_001042400.2:c.1303A>G, NM_001042400.1:c.1303A>G, NR_148352.2:n.1690A>G, NR_148352.1:n.1574A>G, NM_001353112.2:c.1303A>G, NM_001353112.1:c.1303A>G, NR_148353.2:n.1690A>G, NR_148353.1:n.1574A>G, NM_001353111.2:c.1303A>G, NM_001353111.1:c.1303A>G, NR_148354.2:n.1824A>G, NR_148354.1:n.1708A>G, NM_001353126.2:c.802A>G, NM_001353126.1:c.802A>G, NM_001353121.2:c.1165A>G, NM_001353121.1:c.1165A>G, NM_001353119.2:c.1165A>G, NM_001353119.1:c.1165A>G, NM_001353125.2:c.1081A>G, NM_001353125.1:c.1081A>G, NM_001042383.2:c.1165A>G, NM_001042383.1:c.1165A>G, NM_001353120.2:c.1165A>G, NM_001353120.1:c.1165A>G, NM_001353124.2:c.1165A>G, NM_001353124.1:c.1165A>G, NM_001042384.2:c.1165A>G, NM_001042384.1:c.1165A>G, NM_001353117.2:c.1303A>G, NM_001353117.1:c.1303A>G, NM_001353123.2:c.1165A>G, NM_001353123.1:c.1165A>G, NM_001353109.1:c.1165A>G, NR_148355.1:n.1519A>G, NM_001353110.1:c.1303A>G, NM_001353122.1:c.1165A>G, NM_001353118.1:c.1192A>G, NM_001353113.1:c.1303A>G, XM_005247795.6:c.1330A>G, XM_005247795.5:c.1330A>G, XM_005247795.4:c.1330A>G, XM_005247795.3:c.1330A>G, XM_005247795.2:c.1330A>G, XM_005247795.1:c.1330A>G, XM_006713760.5:c.1303A>G, XM_006713760.4:c.1303A>G, XM_006713760.3:c.1303A>G, XM_006713760.2:c.1303A>G, XM_006713760.1:c.1303A>G, XM_005247797.4:c.1303A>G, XM_005247797.3:c.1303A>G, XM_005247797.2:c.1303A>G, XM_005247797.1:c.1303A>G, XM_017007248.3:c.1165A>G, XM_017007248.2:c.1165A>G, XM_017007248.1:c.1165A>G, XM_017007247.3:c.1165A>G, XM_017007247.2:c.1165A>G, XM_017007247.1:c.1165A>G, XR_002959589.2:n.1291A>G, XR_002959589.1:n.1219A>G, XM_017007249.2:c.1165A>G, XM_017007249.1:c.1165A>G, XM_024453768.2:c.1336A>G, XM_024453768.1:c.1336A>G, XM_024453769.2:c.1219A>G, XM_024453769.1:c.1219A>G, XM_024453771.2:c.1219A>G, XM_024453771.1:c.1219A>G, XM_024453772.2:c.1219A>G, XM_024453772.1:c.1219A>G, XM_024453778.2:c.1081A>G, XM_024453778.1:c.1081A>G, XM_024453777.2:c.1330A>G, XM_024453777.1:c.1219A>G, XR_007095734.1:n.1500A>G, XR_007095732.1:n.1429A>G, XR_007095735.1:n.1336A>G, XR_007095730.1:n.1324A>G, XR_007095733.1:n.1828A>G, XM_047449005.1:c.1303A>G, XM_047449000.1:c.1081A>G, XM_047449008.1:c.1165A>G, XM_047448998.1:c.1198A>G, XM_047449006.1:c.1198A>G, XM_047449003.1:c.1303A>G, XM_047448996.1:c.1303A>G, XM_047449001.1:c.1081A>G, XM_047449002.1:c.1303A>G, XM_047448999.1:c.1192A>G, XM_047449009.1:c.1165A>G, XM_047449011.1:c.1081A>G, XM_047449007.1:c.1165A>G, XM_047449013.1:c.1219A>G, XM_047449010.1:c.1330A>G, XR_007095731.1:n.1324A>G, XR_007095729.1:n.1324A>G, XM_047449015.1:c.1303A>G, XM_047449014.1:c.1219A>G, NP_079456.2:p.Lys435Glu, NP_001340037.1:p.Lys435Glu, NP_001035859.1:p.Lys435Glu, NP_001340041.1:p.Lys435Glu, NP_001340040.1:p.Lys435Glu, NP_001340055.1:p.Lys268Glu, NP_001340050.1:p.Lys389Glu, NP_001340048.1:p.Lys389Glu, NP_001340054.1:p.Lys361Glu, NP_001035842.1:p.Lys389Glu, NP_001340049.1:p.Lys389Glu, NP_001340053.1:p.Lys389Glu, NP_001035843.1:p.Lys389Glu, NP_001340046.1:p.Lys435Glu, NP_001340052.1:p.Lys389Glu, NP_001340038.1:p.Lys389Glu, NP_001340039.1:p.Lys435Glu, NP_001340051.1:p.Lys389Glu, NP_001340047.1:p.Lys398Glu, NP_001340042.1:p.Lys435Glu, XP_005247852.1:p.Lys444Glu, XP_006713823.1:p.Lys435Glu, XP_005247854.1:p.Lys435Glu, XP_016862737.1:p.Lys389Glu, XP_016862736.1:p.Lys389Glu, XP_016862738.1:p.Lys389Glu, XP_024309536.1:p.Lys446Glu, XP_024309537.1:p.Lys407Glu, XP_024309539.1:p.Lys407Glu, XP_024309540.1:p.Lys407Glu, XP_024309546.1:p.Lys361Glu, XP_024309545.2:p.Lys444Glu, XP_047304961.1:p.Lys435Glu, XP_047304956.1:p.Lys361Glu, XP_047304964.1:p.Lys389Glu, XP_047304954.1:p.Lys400Glu, XP_047304962.1:p.Lys400Glu, XP_047304959.1:p.Lys435Glu, XP_047304952.1:p.Lys435Glu, XP_047304957.1:p.Lys361Glu, XP_047304958.1:p.Lys435Glu, XP_047304955.1:p.Lys398Glu, XP_047304965.1:p.Lys389Glu, XP_047304967.1:p.Lys361Glu, XP_047304963.1:p.Lys389Glu, XP_047304969.1:p.Lys407Glu, XP_047304966.1:p.Lys444Glu, XP_047304971.1:p.Lys435Glu, XP_047304970.1:p.Lys407Glu

                        12.

                        rs1460174964 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:134546171 (GRCh38)
                          3:134265013 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:134546170: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=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000003.12:g.134546171A>G, NC_000003.11:g.134265013A>G, NG_032870.1:g.65439A>G, NM_025180.5:c.812A>G, NM_025180.4:c.812A>G, NM_025180.3:c.812A>G, NM_001353108.3:c.812A>G, NM_001353108.2:c.812A>G, NM_001353108.1:c.812A>G, NM_001042400.3:c.812A>G, NM_001042400.2:c.812A>G, NM_001042400.1:c.812A>G, NR_148352.2:n.1337A>G, NR_148352.1:n.1221A>G, NM_001353112.2:c.812A>G, NM_001353112.1:c.812A>G, NR_148353.2:n.1337A>G, NR_148353.1:n.1221A>G, NM_001353111.2:c.812A>G, NM_001353111.1:c.812A>G, NR_148354.2:n.1337A>G, NR_148354.1:n.1221A>G, NM_001353126.2:c.449A>G, NM_001353126.1:c.449A>G, NM_001353121.2:c.812A>G, NM_001353121.1:c.812A>G, NM_001353119.2:c.812A>G, NM_001353119.1:c.812A>G, NM_001353125.2:c.728A>G, NM_001353125.1:c.728A>G, NM_001042383.2:c.812A>G, NM_001042383.1:c.812A>G, NM_001353120.2:c.812A>G, NM_001353120.1:c.812A>G, NM_001353124.2:c.812A>G, NM_001353124.1:c.812A>G, NM_001042384.2:c.812A>G, NM_001042384.1:c.812A>G, NM_001353117.2:c.812A>G, NM_001353117.1:c.812A>G, NM_001353123.2:c.812A>G, NM_001353123.1:c.812A>G, NM_001353109.1:c.812A>G, NR_148355.1:n.1166A>G, NM_001353110.1:c.812A>G, NM_001353122.1:c.812A>G, NM_001353118.1:c.839A>G, NM_001353113.1:c.812A>G, XM_005247795.6:c.839A>G, XM_005247795.5:c.839A>G, XM_005247795.4:c.839A>G, XM_005247795.3:c.839A>G, XM_005247795.2:c.839A>G, XM_005247795.1:c.839A>G, XM_006713760.5:c.812A>G, XM_006713760.4:c.812A>G, XM_006713760.3:c.812A>G, XM_006713760.2:c.812A>G, XM_006713760.1:c.812A>G, XM_005247797.4:c.812A>G, XM_005247797.3:c.812A>G, XM_005247797.2:c.812A>G, XM_005247797.1:c.812A>G, XM_017007248.3:c.812A>G, XM_017007248.2:c.812A>G, XM_017007248.1:c.812A>G, XM_017007247.3:c.812A>G, XM_017007247.2:c.812A>G, XM_017007247.1:c.812A>G, XR_002959589.2:n.938A>G, XR_002959589.1:n.866A>G, XM_017007249.2:c.812A>G, XM_017007249.1:c.812A>G, XM_024453768.2:c.845A>G, XM_024453768.1:c.845A>G, XM_024453769.2:c.728A>G, XM_024453769.1:c.728A>G, XM_024453771.2:c.728A>G, XM_024453771.1:c.728A>G, XM_024453772.2:c.728A>G, XM_024453772.1:c.728A>G, XM_024453778.2:c.728A>G, XM_024453778.1:c.728A>G, XM_024453777.2:c.839A>G, XM_024453777.1:c.728A>G, XR_007095734.1:n.1147A>G, XR_007095732.1:n.938A>G, XR_007095735.1:n.983A>G, XR_007095730.1:n.833A>G, XR_007095733.1:n.1337A>G, XM_047449005.1:c.812A>G, XM_047449000.1:c.728A>G, XM_047449008.1:c.812A>G, XM_047448998.1:c.845A>G, XM_047449006.1:c.845A>G, XM_047449003.1:c.812A>G, XM_047448996.1:c.812A>G, XM_047449001.1:c.728A>G, XM_047449002.1:c.812A>G, XM_047448999.1:c.839A>G, XM_047449009.1:c.812A>G, XM_047449011.1:c.728A>G, XM_047449007.1:c.812A>G, XM_047449013.1:c.728A>G, XM_047449010.1:c.839A>G, XR_007095731.1:n.833A>G, XR_007095729.1:n.833A>G, XM_047449015.1:c.812A>G, XM_047449014.1:c.728A>G, NP_079456.2:p.Glu271Gly, NP_001340037.1:p.Glu271Gly, NP_001035859.1:p.Glu271Gly, NP_001340041.1:p.Glu271Gly, NP_001340040.1:p.Glu271Gly, NP_001340055.1:p.Glu150Gly, NP_001340050.1:p.Glu271Gly, NP_001340048.1:p.Glu271Gly, NP_001340054.1:p.Glu243Gly, NP_001035842.1:p.Glu271Gly, NP_001340049.1:p.Glu271Gly, NP_001340053.1:p.Glu271Gly, NP_001035843.1:p.Glu271Gly, NP_001340046.1:p.Glu271Gly, NP_001340052.1:p.Glu271Gly, NP_001340038.1:p.Glu271Gly, NP_001340039.1:p.Glu271Gly, NP_001340051.1:p.Glu271Gly, NP_001340047.1:p.Glu280Gly, NP_001340042.1:p.Glu271Gly, XP_005247852.1:p.Glu280Gly, XP_006713823.1:p.Glu271Gly, XP_005247854.1:p.Glu271Gly, XP_016862737.1:p.Glu271Gly, XP_016862736.1:p.Glu271Gly, XP_016862738.1:p.Glu271Gly, XP_024309536.1:p.Glu282Gly, XP_024309537.1:p.Glu243Gly, XP_024309539.1:p.Glu243Gly, XP_024309540.1:p.Glu243Gly, XP_024309546.1:p.Glu243Gly, XP_024309545.2:p.Glu280Gly, XP_047304961.1:p.Glu271Gly, XP_047304956.1:p.Glu243Gly, XP_047304964.1:p.Glu271Gly, XP_047304954.1:p.Glu282Gly, XP_047304962.1:p.Glu282Gly, XP_047304959.1:p.Glu271Gly, XP_047304952.1:p.Glu271Gly, XP_047304957.1:p.Glu243Gly, XP_047304958.1:p.Glu271Gly, XP_047304955.1:p.Glu280Gly, XP_047304965.1:p.Glu271Gly, XP_047304967.1:p.Glu243Gly, XP_047304963.1:p.Glu271Gly, XP_047304969.1:p.Glu243Gly, XP_047304966.1:p.Glu280Gly, XP_047304971.1:p.Glu271Gly, XP_047304970.1:p.Glu243Gly

                          13.

                          rs1458763228 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:134546203 (GRCh38)
                            3:134265045 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:134546202:C:T
                            Gene:
                            CEP63 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.134546203C>T, NC_000003.11:g.134265045C>T, NG_032870.1:g.65471C>T, NM_025180.5:c.844C>T, NM_025180.4:c.844C>T, NM_025180.3:c.844C>T, NM_001353108.3:c.844C>T, NM_001353108.2:c.844C>T, NM_001353108.1:c.844C>T, NM_001042400.3:c.844C>T, NM_001042400.2:c.844C>T, NM_001042400.1:c.844C>T, NR_148352.2:n.1369C>T, NR_148352.1:n.1253C>T, NM_001353112.2:c.844C>T, NM_001353112.1:c.844C>T, NR_148353.2:n.1369C>T, NR_148353.1:n.1253C>T, NM_001353111.2:c.844C>T, NM_001353111.1:c.844C>T, NR_148354.2:n.1369C>T, NR_148354.1:n.1253C>T, NM_001353126.2:c.481C>T, NM_001353126.1:c.481C>T, NM_001353121.2:c.844C>T, NM_001353121.1:c.844C>T, NM_001353119.2:c.844C>T, NM_001353119.1:c.844C>T, NM_001353125.2:c.760C>T, NM_001353125.1:c.760C>T, NM_001042383.2:c.844C>T, NM_001042383.1:c.844C>T, NM_001353120.2:c.844C>T, NM_001353120.1:c.844C>T, NM_001353124.2:c.844C>T, NM_001353124.1:c.844C>T, NM_001042384.2:c.844C>T, NM_001042384.1:c.844C>T, NM_001353117.2:c.844C>T, NM_001353117.1:c.844C>T, NM_001353123.2:c.844C>T, NM_001353123.1:c.844C>T, NM_001353109.1:c.844C>T, NR_148355.1:n.1198C>T, NM_001353110.1:c.844C>T, NM_001353122.1:c.844C>T, NM_001353118.1:c.871C>T, NM_001353113.1:c.844C>T, XM_005247795.6:c.871C>T, XM_005247795.5:c.871C>T, XM_005247795.4:c.871C>T, XM_005247795.3:c.871C>T, XM_005247795.2:c.871C>T, XM_005247795.1:c.871C>T, XM_006713760.5:c.844C>T, XM_006713760.4:c.844C>T, XM_006713760.3:c.844C>T, XM_006713760.2:c.844C>T, XM_006713760.1:c.844C>T, XM_005247797.4:c.844C>T, XM_005247797.3:c.844C>T, XM_005247797.2:c.844C>T, XM_005247797.1:c.844C>T, XM_017007248.3:c.844C>T, XM_017007248.2:c.844C>T, XM_017007248.1:c.844C>T, XM_017007247.3:c.844C>T, XM_017007247.2:c.844C>T, XM_017007247.1:c.844C>T, XR_002959589.2:n.970C>T, XR_002959589.1:n.898C>T, XM_017007249.2:c.844C>T, XM_017007249.1:c.844C>T, XM_024453768.2:c.877C>T, XM_024453768.1:c.877C>T, XM_024453769.2:c.760C>T, XM_024453769.1:c.760C>T, XM_024453771.2:c.760C>T, XM_024453771.1:c.760C>T, XM_024453772.2:c.760C>T, XM_024453772.1:c.760C>T, XM_024453778.2:c.760C>T, XM_024453778.1:c.760C>T, XM_024453777.2:c.871C>T, XM_024453777.1:c.760C>T, XR_007095734.1:n.1179C>T, XR_007095732.1:n.970C>T, XR_007095735.1:n.1015C>T, XR_007095730.1:n.865C>T, XR_007095733.1:n.1369C>T, XM_047449005.1:c.844C>T, XM_047449000.1:c.760C>T, XM_047449008.1:c.844C>T, XM_047448998.1:c.877C>T, XM_047449006.1:c.877C>T, XM_047449003.1:c.844C>T, XM_047448996.1:c.844C>T, XM_047449001.1:c.760C>T, XM_047449002.1:c.844C>T, XM_047448999.1:c.871C>T, XM_047449009.1:c.844C>T, XM_047449011.1:c.760C>T, XM_047449007.1:c.844C>T, XM_047449013.1:c.760C>T, XM_047449010.1:c.871C>T, XR_007095731.1:n.865C>T, XR_007095729.1:n.865C>T, XM_047449015.1:c.844C>T, XM_047449014.1:c.760C>T, NP_079456.2:p.Leu282Phe, NP_001340037.1:p.Leu282Phe, NP_001035859.1:p.Leu282Phe, NP_001340041.1:p.Leu282Phe, NP_001340040.1:p.Leu282Phe, NP_001340055.1:p.Leu161Phe, NP_001340050.1:p.Leu282Phe, NP_001340048.1:p.Leu282Phe, NP_001340054.1:p.Leu254Phe, NP_001035842.1:p.Leu282Phe, NP_001340049.1:p.Leu282Phe, NP_001340053.1:p.Leu282Phe, NP_001035843.1:p.Leu282Phe, NP_001340046.1:p.Leu282Phe, NP_001340052.1:p.Leu282Phe, NP_001340038.1:p.Leu282Phe, NP_001340039.1:p.Leu282Phe, NP_001340051.1:p.Leu282Phe, NP_001340047.1:p.Leu291Phe, NP_001340042.1:p.Leu282Phe, XP_005247852.1:p.Leu291Phe, XP_006713823.1:p.Leu282Phe, XP_005247854.1:p.Leu282Phe, XP_016862737.1:p.Leu282Phe, XP_016862736.1:p.Leu282Phe, XP_016862738.1:p.Leu282Phe, XP_024309536.1:p.Leu293Phe, XP_024309537.1:p.Leu254Phe, XP_024309539.1:p.Leu254Phe, XP_024309540.1:p.Leu254Phe, XP_024309546.1:p.Leu254Phe, XP_024309545.2:p.Leu291Phe, XP_047304961.1:p.Leu282Phe, XP_047304956.1:p.Leu254Phe, XP_047304964.1:p.Leu282Phe, XP_047304954.1:p.Leu293Phe, XP_047304962.1:p.Leu293Phe, XP_047304959.1:p.Leu282Phe, XP_047304952.1:p.Leu282Phe, XP_047304957.1:p.Leu254Phe, XP_047304958.1:p.Leu282Phe, XP_047304955.1:p.Leu291Phe, XP_047304965.1:p.Leu282Phe, XP_047304967.1:p.Leu254Phe, XP_047304963.1:p.Leu282Phe, XP_047304969.1:p.Leu254Phe, XP_047304966.1:p.Leu291Phe, XP_047304971.1:p.Leu282Phe, XP_047304970.1:p.Leu254Phe

                            14.

                            rs1458316684 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:134551985 (GRCh38)
                              3:134270827 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:134551984:G:A
                              Gene:
                              CEP63 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.134551985G>A, NC_000003.11:g.134270827G>A, NG_032870.1:g.71253G>A, NM_025180.5:c.1440G>A, NM_025180.4:c.1440G>A, NM_025180.3:c.1440G>A, NM_001353108.3:c.1440G>A, NM_001353108.2:c.1440G>A, NM_001353108.1:c.1440G>A, NM_001042400.3:c.1440G>A, NM_001042400.2:c.1440G>A, NM_001042400.1:c.1440G>A, NR_148352.2:n.1827G>A, NR_148352.1:n.1711G>A, NM_001353112.2:c.1440G>A, NM_001353112.1:c.1440G>A, NR_148353.2:n.1827G>A, NR_148353.1:n.1711G>A, NM_001353111.2:c.1440G>A, NM_001353111.1:c.1440G>A, NR_148354.2:n.1961G>A, NR_148354.1:n.1845G>A, NM_001353126.2:c.939G>A, NM_001353126.1:c.939G>A, NM_001353121.2:c.1302G>A, NM_001353121.1:c.1302G>A, NM_001353119.2:c.1302G>A, NM_001353119.1:c.1302G>A, NM_001353125.2:c.1218G>A, NM_001353125.1:c.1218G>A, NM_001042383.2:c.1302G>A, NM_001042383.1:c.1302G>A, NM_001353120.2:c.1302G>A, NM_001353120.1:c.1302G>A, NM_001353124.2:c.1302G>A, NM_001353124.1:c.1302G>A, NM_001042384.2:c.1302G>A, NM_001042384.1:c.1302G>A, NM_001353117.2:c.1440G>A, NM_001353117.1:c.1440G>A, NM_001353123.2:c.1302G>A, NM_001353123.1:c.1302G>A, NM_001353109.1:c.1302G>A, NR_148355.1:n.1656G>A, NM_001353110.1:c.1440G>A, NM_001353122.1:c.1302G>A, NM_001353118.1:c.1329G>A, NM_001353113.1:c.1440G>A, XM_005247795.6:c.1467G>A, XM_005247795.5:c.1467G>A, XM_005247795.4:c.1467G>A, XM_005247795.3:c.1467G>A, XM_005247795.2:c.1467G>A, XM_005247795.1:c.1467G>A, XM_006713760.5:c.1440G>A, XM_006713760.4:c.1440G>A, XM_006713760.3:c.1440G>A, XM_006713760.2:c.1440G>A, XM_006713760.1:c.1440G>A, XM_005247797.4:c.1440G>A, XM_005247797.3:c.1440G>A, XM_005247797.2:c.1440G>A, XM_005247797.1:c.1440G>A, XM_017007248.3:c.1302G>A, XM_017007248.2:c.1302G>A, XM_017007248.1:c.1302G>A, XM_017007247.3:c.1302G>A, XM_017007247.2:c.1302G>A, XM_017007247.1:c.1302G>A, XR_002959589.2:n.1428G>A, XR_002959589.1:n.1356G>A, XM_017007249.2:c.1302G>A, XM_017007249.1:c.1302G>A, XM_024453768.2:c.1473G>A, XM_024453768.1:c.1473G>A, XM_024453769.2:c.1356G>A, XM_024453769.1:c.1356G>A, XM_024453771.2:c.1356G>A, XM_024453771.1:c.1356G>A, XM_024453772.2:c.1356G>A, XM_024453772.1:c.1356G>A, XM_024453778.2:c.1218G>A, XM_024453778.1:c.1218G>A, XM_024453777.2:c.1467G>A, XM_024453777.1:c.1356G>A, XR_007095734.1:n.1637G>A, XR_007095732.1:n.1566G>A, XR_007095735.1:n.1473G>A, XR_007095730.1:n.1461G>A, XR_007095733.1:n.1965G>A, XM_047449005.1:c.1440G>A, XM_047449000.1:c.1218G>A, XM_047449008.1:c.1302G>A, XM_047448998.1:c.1335G>A, XM_047449006.1:c.1335G>A, XM_047449003.1:c.1440G>A, XM_047448996.1:c.1440G>A, XM_047449001.1:c.1218G>A, XM_047449002.1:c.1440G>A, XM_047448999.1:c.1329G>A, XM_047449009.1:c.1302G>A, XM_047449011.1:c.1218G>A, XM_047449007.1:c.1302G>A, XM_047449013.1:c.1356G>A, XM_047449010.1:c.1467G>A, XR_007095731.1:n.1461G>A, XR_007095729.1:n.1461G>A, XM_047449015.1:c.1440G>A, XM_047449014.1:c.1356G>A

                              15.

                              rs1455167673 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                3:134545604 (GRCh38)
                                3:134264446 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:134545603: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=0.000671/3 (ALFA)
                                C=0.000021/3 (GnomAD)
                                C=0.00067/3 (Estonian)
                                HGVS:
                                NC_000003.12:g.134545604A>C, NC_000003.11:g.134264446A>C, NG_032870.1:g.64872A>C, NM_025180.5:c.574A>C, NM_025180.4:c.574A>C, NM_025180.3:c.574A>C, NM_001353108.3:c.574A>C, NM_001353108.2:c.574A>C, NM_001353108.1:c.574A>C, NM_001042400.3:c.574A>C, NM_001042400.2:c.574A>C, NM_001042400.1:c.574A>C, NR_148352.2:n.1099A>C, NR_148352.1:n.983A>C, NM_001353112.2:c.574A>C, NM_001353112.1:c.574A>C, NR_148353.2:n.1099A>C, NR_148353.1:n.983A>C, NM_001353111.2:c.574A>C, NM_001353111.1:c.574A>C, NR_148354.2:n.1099A>C, NR_148354.1:n.983A>C, NM_001353126.2:c.211A>C, NM_001353126.1:c.211A>C, NM_001353121.2:c.574A>C, NM_001353121.1:c.574A>C, NM_001353119.2:c.574A>C, NM_001353119.1:c.574A>C, NM_001353125.2:c.490A>C, NM_001353125.1:c.490A>C, NM_001042383.2:c.574A>C, NM_001042383.1:c.574A>C, NM_001353120.2:c.574A>C, NM_001353120.1:c.574A>C, NM_001353124.2:c.574A>C, NM_001353124.1:c.574A>C, NM_001042384.2:c.574A>C, NM_001042384.1:c.574A>C, NM_001353117.2:c.574A>C, NM_001353117.1:c.574A>C, NM_001353123.2:c.574A>C, NM_001353123.1:c.574A>C, NM_001353109.1:c.574A>C, NR_148355.1:n.928A>C, NM_001353110.1:c.574A>C, NM_001353122.1:c.574A>C, NM_001353118.1:c.601A>C, NM_001353113.1:c.574A>C, XM_005247795.6:c.601A>C, XM_005247795.5:c.601A>C, XM_005247795.4:c.601A>C, XM_005247795.3:c.601A>C, XM_005247795.2:c.601A>C, XM_005247795.1:c.601A>C, XM_006713760.5:c.574A>C, XM_006713760.4:c.574A>C, XM_006713760.3:c.574A>C, XM_006713760.2:c.574A>C, XM_006713760.1:c.574A>C, XM_005247797.4:c.574A>C, XM_005247797.3:c.574A>C, XM_005247797.2:c.574A>C, XM_005247797.1:c.574A>C, XM_017007248.3:c.574A>C, XM_017007248.2:c.574A>C, XM_017007248.1:c.574A>C, XM_017007247.3:c.574A>C, XM_017007247.2:c.574A>C, XM_017007247.1:c.574A>C, XR_002959589.2:n.700A>C, XR_002959589.1:n.628A>C, XM_017007249.2:c.574A>C, XM_017007249.1:c.574A>C, XM_024453768.2:c.607A>C, XM_024453768.1:c.607A>C, XM_024453769.2:c.490A>C, XM_024453769.1:c.490A>C, XM_024453771.2:c.490A>C, XM_024453771.1:c.490A>C, XM_024453772.2:c.490A>C, XM_024453772.1:c.490A>C, XM_024453778.2:c.490A>C, XM_024453778.1:c.490A>C, XM_024453777.2:c.601A>C, XM_024453777.1:c.490A>C, XR_007095734.1:n.909A>C, XR_007095732.1:n.700A>C, XR_007095735.1:n.745A>C, XR_007095730.1:n.595A>C, XR_007095733.1:n.1099A>C, XM_047449005.1:c.574A>C, XM_047449000.1:c.490A>C, XM_047449008.1:c.574A>C, XM_047448998.1:c.607A>C, XM_047449006.1:c.607A>C, XM_047449003.1:c.574A>C, XM_047448996.1:c.574A>C, XM_047449001.1:c.490A>C, XM_047449002.1:c.574A>C, XM_047448999.1:c.601A>C, XM_047449009.1:c.574A>C, XM_047449011.1:c.490A>C, XM_047449007.1:c.574A>C, XM_047449013.1:c.490A>C, XM_047449010.1:c.601A>C, XR_007095731.1:n.595A>C, XR_007095729.1:n.595A>C, XM_047449015.1:c.574A>C, XM_047449014.1:c.490A>C, NP_079456.2:p.Lys192Gln, NP_001340037.1:p.Lys192Gln, NP_001035859.1:p.Lys192Gln, NP_001340041.1:p.Lys192Gln, NP_001340040.1:p.Lys192Gln, NP_001340055.1:p.Lys71Gln, NP_001340050.1:p.Lys192Gln, NP_001340048.1:p.Lys192Gln, NP_001340054.1:p.Lys164Gln, NP_001035842.1:p.Lys192Gln, NP_001340049.1:p.Lys192Gln, NP_001340053.1:p.Lys192Gln, NP_001035843.1:p.Lys192Gln, NP_001340046.1:p.Lys192Gln, NP_001340052.1:p.Lys192Gln, NP_001340038.1:p.Lys192Gln, NP_001340039.1:p.Lys192Gln, NP_001340051.1:p.Lys192Gln, NP_001340047.1:p.Lys201Gln, NP_001340042.1:p.Lys192Gln, XP_005247852.1:p.Lys201Gln, XP_006713823.1:p.Lys192Gln, XP_005247854.1:p.Lys192Gln, XP_016862737.1:p.Lys192Gln, XP_016862736.1:p.Lys192Gln, XP_016862738.1:p.Lys192Gln, XP_024309536.1:p.Lys203Gln, XP_024309537.1:p.Lys164Gln, XP_024309539.1:p.Lys164Gln, XP_024309540.1:p.Lys164Gln, XP_024309546.1:p.Lys164Gln, XP_024309545.2:p.Lys201Gln, XP_047304961.1:p.Lys192Gln, XP_047304956.1:p.Lys164Gln, XP_047304964.1:p.Lys192Gln, XP_047304954.1:p.Lys203Gln, XP_047304962.1:p.Lys203Gln, XP_047304959.1:p.Lys192Gln, XP_047304952.1:p.Lys192Gln, XP_047304957.1:p.Lys164Gln, XP_047304958.1:p.Lys192Gln, XP_047304955.1:p.Lys201Gln, XP_047304965.1:p.Lys192Gln, XP_047304967.1:p.Lys164Gln, XP_047304963.1:p.Lys192Gln, XP_047304969.1:p.Lys164Gln, XP_047304966.1:p.Lys201Gln, XP_047304971.1:p.Lys192Gln, XP_047304970.1:p.Lys164Gln

                                16.

                                rs1444552707 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:134549118 (GRCh38)
                                  3:134267960 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:134549117:A:G
                                  Gene:
                                  CEP63 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.134549118A>G, NC_000003.11:g.134267960A>G, NG_032870.1:g.68386A>G, NM_025180.5:c.1124A>G, NM_025180.4:c.1124A>G, NM_025180.3:c.1124A>G, NM_001353108.3:c.1124A>G, NM_001353108.2:c.1124A>G, NM_001353108.1:c.1124A>G, NM_001042400.3:c.1124A>G, NM_001042400.2:c.1124A>G, NM_001042400.1:c.1124A>G, NR_148352.2:n.1511A>G, NR_148352.1:n.1395A>G, NM_001353112.2:c.1124A>G, NM_001353112.1:c.1124A>G, NR_148353.2:n.1511A>G, NR_148353.1:n.1395A>G, NM_001353111.2:c.1124A>G, NM_001353111.1:c.1124A>G, NR_148354.2:n.1645A>G, NR_148354.1:n.1529A>G, NM_001353126.2:c.623A>G, NM_001353126.1:c.623A>G, NM_001353121.2:c.986A>G, NM_001353121.1:c.986A>G, NM_001353119.2:c.986A>G, NM_001353119.1:c.986A>G, NM_001353125.2:c.902A>G, NM_001353125.1:c.902A>G, NM_001042383.2:c.986A>G, NM_001042383.1:c.986A>G, NM_001353120.2:c.986A>G, NM_001353120.1:c.986A>G, NM_001353124.2:c.986A>G, NM_001353124.1:c.986A>G, NM_001042384.2:c.986A>G, NM_001042384.1:c.986A>G, NM_001353117.2:c.1124A>G, NM_001353117.1:c.1124A>G, NM_001353123.2:c.986A>G, NM_001353123.1:c.986A>G, NM_001353109.1:c.986A>G, NR_148355.1:n.1340A>G, NM_001353110.1:c.1124A>G, NM_001353122.1:c.986A>G, NM_001353118.1:c.1013A>G, NM_001353113.1:c.1124A>G, XM_005247795.6:c.1151A>G, XM_005247795.5:c.1151A>G, XM_005247795.4:c.1151A>G, XM_005247795.3:c.1151A>G, XM_005247795.2:c.1151A>G, XM_005247795.1:c.1151A>G, XM_006713760.5:c.1124A>G, XM_006713760.4:c.1124A>G, XM_006713760.3:c.1124A>G, XM_006713760.2:c.1124A>G, XM_006713760.1:c.1124A>G, XM_005247797.4:c.1124A>G, XM_005247797.3:c.1124A>G, XM_005247797.2:c.1124A>G, XM_005247797.1:c.1124A>G, XM_017007248.3:c.986A>G, XM_017007248.2:c.986A>G, XM_017007248.1:c.986A>G, XM_017007247.3:c.986A>G, XM_017007247.2:c.986A>G, XM_017007247.1:c.986A>G, XR_002959589.2:n.1112A>G, XR_002959589.1:n.1040A>G, XM_017007249.2:c.986A>G, XM_017007249.1:c.986A>G, XM_024453768.2:c.1157A>G, XM_024453768.1:c.1157A>G, XM_024453769.2:c.1040A>G, XM_024453769.1:c.1040A>G, XM_024453771.2:c.1040A>G, XM_024453771.1:c.1040A>G, XM_024453772.2:c.1040A>G, XM_024453772.1:c.1040A>G, XM_024453778.2:c.902A>G, XM_024453778.1:c.902A>G, XM_024453777.2:c.1151A>G, XM_024453777.1:c.1040A>G, XR_007095734.1:n.1321A>G, XR_007095732.1:n.1250A>G, XR_007095735.1:n.1157A>G, XR_007095730.1:n.1145A>G, XR_007095733.1:n.1649A>G, XM_047449005.1:c.1124A>G, XM_047449000.1:c.902A>G, XM_047449008.1:c.986A>G, XM_047448998.1:c.1019A>G, XM_047449006.1:c.1019A>G, XM_047449003.1:c.1124A>G, XM_047448996.1:c.1124A>G, XM_047449001.1:c.902A>G, XM_047449002.1:c.1124A>G, XM_047448999.1:c.1013A>G, XM_047449009.1:c.986A>G, XM_047449011.1:c.902A>G, XM_047449007.1:c.986A>G, XM_047449013.1:c.1040A>G, XM_047449010.1:c.1151A>G, XR_007095731.1:n.1145A>G, XR_007095729.1:n.1145A>G, XM_047449015.1:c.1124A>G, XM_047449014.1:c.1040A>G, NP_079456.2:p.Tyr375Cys, NP_001340037.1:p.Tyr375Cys, NP_001035859.1:p.Tyr375Cys, NP_001340041.1:p.Tyr375Cys, NP_001340040.1:p.Tyr375Cys, NP_001340055.1:p.Tyr208Cys, NP_001340050.1:p.Tyr329Cys, NP_001340048.1:p.Tyr329Cys, NP_001340054.1:p.Tyr301Cys, NP_001035842.1:p.Tyr329Cys, NP_001340049.1:p.Tyr329Cys, NP_001340053.1:p.Tyr329Cys, NP_001035843.1:p.Tyr329Cys, NP_001340046.1:p.Tyr375Cys, NP_001340052.1:p.Tyr329Cys, NP_001340038.1:p.Tyr329Cys, NP_001340039.1:p.Tyr375Cys, NP_001340051.1:p.Tyr329Cys, NP_001340047.1:p.Tyr338Cys, NP_001340042.1:p.Tyr375Cys, XP_005247852.1:p.Tyr384Cys, XP_006713823.1:p.Tyr375Cys, XP_005247854.1:p.Tyr375Cys, XP_016862737.1:p.Tyr329Cys, XP_016862736.1:p.Tyr329Cys, XP_016862738.1:p.Tyr329Cys, XP_024309536.1:p.Tyr386Cys, XP_024309537.1:p.Tyr347Cys, XP_024309539.1:p.Tyr347Cys, XP_024309540.1:p.Tyr347Cys, XP_024309546.1:p.Tyr301Cys, XP_024309545.2:p.Tyr384Cys, XP_047304961.1:p.Tyr375Cys, XP_047304956.1:p.Tyr301Cys, XP_047304964.1:p.Tyr329Cys, XP_047304954.1:p.Tyr340Cys, XP_047304962.1:p.Tyr340Cys, XP_047304959.1:p.Tyr375Cys, XP_047304952.1:p.Tyr375Cys, XP_047304957.1:p.Tyr301Cys, XP_047304958.1:p.Tyr375Cys, XP_047304955.1:p.Tyr338Cys, XP_047304965.1:p.Tyr329Cys, XP_047304967.1:p.Tyr301Cys, XP_047304963.1:p.Tyr329Cys, XP_047304969.1:p.Tyr347Cys, XP_047304966.1:p.Tyr384Cys, XP_047304971.1:p.Tyr375Cys, XP_047304970.1:p.Tyr347Cys

                                  17.

                                  rs1444409722 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    3:134545776 (GRCh38)
                                    3:134264618 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:134545775:A:T
                                    Gene:
                                    CEP63 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_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_000003.12:g.134545776A>T, NC_000003.11:g.134264618A>T, NG_032870.1:g.65044A>T, NM_025180.5:c.746A>T, NM_025180.4:c.746A>T, NM_025180.3:c.746A>T, NM_001353108.3:c.746A>T, NM_001353108.2:c.746A>T, NM_001353108.1:c.746A>T, NM_001042400.3:c.746A>T, NM_001042400.2:c.746A>T, NM_001042400.1:c.746A>T, NR_148352.2:n.1271A>T, NR_148352.1:n.1155A>T, NM_001353112.2:c.746A>T, NM_001353112.1:c.746A>T, NR_148353.2:n.1271A>T, NR_148353.1:n.1155A>T, NM_001353111.2:c.746A>T, NM_001353111.1:c.746A>T, NR_148354.2:n.1271A>T, NR_148354.1:n.1155A>T, NM_001353126.2:c.383A>T, NM_001353126.1:c.383A>T, NM_001353121.2:c.746A>T, NM_001353121.1:c.746A>T, NM_001353119.2:c.746A>T, NM_001353119.1:c.746A>T, NM_001353125.2:c.662A>T, NM_001353125.1:c.662A>T, NM_001042383.2:c.746A>T, NM_001042383.1:c.746A>T, NM_001353120.2:c.746A>T, NM_001353120.1:c.746A>T, NM_001353124.2:c.746A>T, NM_001353124.1:c.746A>T, NM_001042384.2:c.746A>T, NM_001042384.1:c.746A>T, NM_001353117.2:c.746A>T, NM_001353117.1:c.746A>T, NM_001353123.2:c.746A>T, NM_001353123.1:c.746A>T, NM_001353109.1:c.746A>T, NR_148355.1:n.1100A>T, NM_001353110.1:c.746A>T, NM_001353122.1:c.746A>T, NM_001353118.1:c.773A>T, NM_001353113.1:c.746A>T, XM_005247795.6:c.773A>T, XM_005247795.5:c.773A>T, XM_005247795.4:c.773A>T, XM_005247795.3:c.773A>T, XM_005247795.2:c.773A>T, XM_005247795.1:c.773A>T, XM_006713760.5:c.746A>T, XM_006713760.4:c.746A>T, XM_006713760.3:c.746A>T, XM_006713760.2:c.746A>T, XM_006713760.1:c.746A>T, XM_005247797.4:c.746A>T, XM_005247797.3:c.746A>T, XM_005247797.2:c.746A>T, XM_005247797.1:c.746A>T, XM_017007248.3:c.746A>T, XM_017007248.2:c.746A>T, XM_017007248.1:c.746A>T, XM_017007247.3:c.746A>T, XM_017007247.2:c.746A>T, XM_017007247.1:c.746A>T, XR_002959589.2:n.872A>T, XR_002959589.1:n.800A>T, XM_017007249.2:c.746A>T, XM_017007249.1:c.746A>T, XM_024453768.2:c.779A>T, XM_024453768.1:c.779A>T, XM_024453769.2:c.662A>T, XM_024453769.1:c.662A>T, XM_024453771.2:c.662A>T, XM_024453771.1:c.662A>T, XM_024453772.2:c.662A>T, XM_024453772.1:c.662A>T, XM_024453778.2:c.662A>T, XM_024453778.1:c.662A>T, XM_024453777.2:c.773A>T, XM_024453777.1:c.662A>T, XR_007095734.1:n.1081A>T, XR_007095732.1:n.872A>T, XR_007095735.1:n.917A>T, XR_007095730.1:n.767A>T, XR_007095733.1:n.1271A>T, XM_047449005.1:c.746A>T, XM_047449000.1:c.662A>T, XM_047449008.1:c.746A>T, XM_047448998.1:c.779A>T, XM_047449006.1:c.779A>T, XM_047449003.1:c.746A>T, XM_047448996.1:c.746A>T, XM_047449001.1:c.662A>T, XM_047449002.1:c.746A>T, XM_047448999.1:c.773A>T, XM_047449009.1:c.746A>T, XM_047449011.1:c.662A>T, XM_047449007.1:c.746A>T, XM_047449013.1:c.662A>T, XM_047449010.1:c.773A>T, XR_007095731.1:n.767A>T, XR_007095729.1:n.767A>T, XM_047449015.1:c.746A>T, XM_047449014.1:c.662A>T, NP_079456.2:p.Gln249Leu, NP_001340037.1:p.Gln249Leu, NP_001035859.1:p.Gln249Leu, NP_001340041.1:p.Gln249Leu, NP_001340040.1:p.Gln249Leu, NP_001340055.1:p.Gln128Leu, NP_001340050.1:p.Gln249Leu, NP_001340048.1:p.Gln249Leu, NP_001340054.1:p.Gln221Leu, NP_001035842.1:p.Gln249Leu, NP_001340049.1:p.Gln249Leu, NP_001340053.1:p.Gln249Leu, NP_001035843.1:p.Gln249Leu, NP_001340046.1:p.Gln249Leu, NP_001340052.1:p.Gln249Leu, NP_001340038.1:p.Gln249Leu, NP_001340039.1:p.Gln249Leu, NP_001340051.1:p.Gln249Leu, NP_001340047.1:p.Gln258Leu, NP_001340042.1:p.Gln249Leu, XP_005247852.1:p.Gln258Leu, XP_006713823.1:p.Gln249Leu, XP_005247854.1:p.Gln249Leu, XP_016862737.1:p.Gln249Leu, XP_016862736.1:p.Gln249Leu, XP_016862738.1:p.Gln249Leu, XP_024309536.1:p.Gln260Leu, XP_024309537.1:p.Gln221Leu, XP_024309539.1:p.Gln221Leu, XP_024309540.1:p.Gln221Leu, XP_024309546.1:p.Gln221Leu, XP_024309545.2:p.Gln258Leu, XP_047304961.1:p.Gln249Leu, XP_047304956.1:p.Gln221Leu, XP_047304964.1:p.Gln249Leu, XP_047304954.1:p.Gln260Leu, XP_047304962.1:p.Gln260Leu, XP_047304959.1:p.Gln249Leu, XP_047304952.1:p.Gln249Leu, XP_047304957.1:p.Gln221Leu, XP_047304958.1:p.Gln249Leu, XP_047304955.1:p.Gln258Leu, XP_047304965.1:p.Gln249Leu, XP_047304967.1:p.Gln221Leu, XP_047304963.1:p.Gln249Leu, XP_047304969.1:p.Gln221Leu, XP_047304966.1:p.Gln258Leu, XP_047304971.1:p.Gln249Leu, XP_047304970.1:p.Gln221Leu

                                    18.

                                    rs1441682372 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:134546186 (GRCh38)
                                      3:134265028 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:134546185:T:C
                                      Gene:
                                      CEP63 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.134546186T>C, NC_000003.11:g.134265028T>C, NG_032870.1:g.65454T>C, NM_025180.5:c.827T>C, NM_025180.4:c.827T>C, NM_025180.3:c.827T>C, NM_001353108.3:c.827T>C, NM_001353108.2:c.827T>C, NM_001353108.1:c.827T>C, NM_001042400.3:c.827T>C, NM_001042400.2:c.827T>C, NM_001042400.1:c.827T>C, NR_148352.2:n.1352T>C, NR_148352.1:n.1236T>C, NM_001353112.2:c.827T>C, NM_001353112.1:c.827T>C, NR_148353.2:n.1352T>C, NR_148353.1:n.1236T>C, NM_001353111.2:c.827T>C, NM_001353111.1:c.827T>C, NR_148354.2:n.1352T>C, NR_148354.1:n.1236T>C, NM_001353126.2:c.464T>C, NM_001353126.1:c.464T>C, NM_001353121.2:c.827T>C, NM_001353121.1:c.827T>C, NM_001353119.2:c.827T>C, NM_001353119.1:c.827T>C, NM_001353125.2:c.743T>C, NM_001353125.1:c.743T>C, NM_001042383.2:c.827T>C, NM_001042383.1:c.827T>C, NM_001353120.2:c.827T>C, NM_001353120.1:c.827T>C, NM_001353124.2:c.827T>C, NM_001353124.1:c.827T>C, NM_001042384.2:c.827T>C, NM_001042384.1:c.827T>C, NM_001353117.2:c.827T>C, NM_001353117.1:c.827T>C, NM_001353123.2:c.827T>C, NM_001353123.1:c.827T>C, NM_001353109.1:c.827T>C, NR_148355.1:n.1181T>C, NM_001353110.1:c.827T>C, NM_001353122.1:c.827T>C, NM_001353118.1:c.854T>C, NM_001353113.1:c.827T>C, XM_005247795.6:c.854T>C, XM_005247795.5:c.854T>C, XM_005247795.4:c.854T>C, XM_005247795.3:c.854T>C, XM_005247795.2:c.854T>C, XM_005247795.1:c.854T>C, XM_006713760.5:c.827T>C, XM_006713760.4:c.827T>C, XM_006713760.3:c.827T>C, XM_006713760.2:c.827T>C, XM_006713760.1:c.827T>C, XM_005247797.4:c.827T>C, XM_005247797.3:c.827T>C, XM_005247797.2:c.827T>C, XM_005247797.1:c.827T>C, XM_017007248.3:c.827T>C, XM_017007248.2:c.827T>C, XM_017007248.1:c.827T>C, XM_017007247.3:c.827T>C, XM_017007247.2:c.827T>C, XM_017007247.1:c.827T>C, XR_002959589.2:n.953T>C, XR_002959589.1:n.881T>C, XM_017007249.2:c.827T>C, XM_017007249.1:c.827T>C, XM_024453768.2:c.860T>C, XM_024453768.1:c.860T>C, XM_024453769.2:c.743T>C, XM_024453769.1:c.743T>C, XM_024453771.2:c.743T>C, XM_024453771.1:c.743T>C, XM_024453772.2:c.743T>C, XM_024453772.1:c.743T>C, XM_024453778.2:c.743T>C, XM_024453778.1:c.743T>C, XM_024453777.2:c.854T>C, XM_024453777.1:c.743T>C, XR_007095734.1:n.1162T>C, XR_007095732.1:n.953T>C, XR_007095735.1:n.998T>C, XR_007095730.1:n.848T>C, XR_007095733.1:n.1352T>C, XM_047449005.1:c.827T>C, XM_047449000.1:c.743T>C, XM_047449008.1:c.827T>C, XM_047448998.1:c.860T>C, XM_047449006.1:c.860T>C, XM_047449003.1:c.827T>C, XM_047448996.1:c.827T>C, XM_047449001.1:c.743T>C, XM_047449002.1:c.827T>C, XM_047448999.1:c.854T>C, XM_047449009.1:c.827T>C, XM_047449011.1:c.743T>C, XM_047449007.1:c.827T>C, XM_047449013.1:c.743T>C, XM_047449010.1:c.854T>C, XR_007095731.1:n.848T>C, XR_007095729.1:n.848T>C, XM_047449015.1:c.827T>C, XM_047449014.1:c.743T>C, NP_079456.2:p.Leu276Pro, NP_001340037.1:p.Leu276Pro, NP_001035859.1:p.Leu276Pro, NP_001340041.1:p.Leu276Pro, NP_001340040.1:p.Leu276Pro, NP_001340055.1:p.Leu155Pro, NP_001340050.1:p.Leu276Pro, NP_001340048.1:p.Leu276Pro, NP_001340054.1:p.Leu248Pro, NP_001035842.1:p.Leu276Pro, NP_001340049.1:p.Leu276Pro, NP_001340053.1:p.Leu276Pro, NP_001035843.1:p.Leu276Pro, NP_001340046.1:p.Leu276Pro, NP_001340052.1:p.Leu276Pro, NP_001340038.1:p.Leu276Pro, NP_001340039.1:p.Leu276Pro, NP_001340051.1:p.Leu276Pro, NP_001340047.1:p.Leu285Pro, NP_001340042.1:p.Leu276Pro, XP_005247852.1:p.Leu285Pro, XP_006713823.1:p.Leu276Pro, XP_005247854.1:p.Leu276Pro, XP_016862737.1:p.Leu276Pro, XP_016862736.1:p.Leu276Pro, XP_016862738.1:p.Leu276Pro, XP_024309536.1:p.Leu287Pro, XP_024309537.1:p.Leu248Pro, XP_024309539.1:p.Leu248Pro, XP_024309540.1:p.Leu248Pro, XP_024309546.1:p.Leu248Pro, XP_024309545.2:p.Leu285Pro, XP_047304961.1:p.Leu276Pro, XP_047304956.1:p.Leu248Pro, XP_047304964.1:p.Leu276Pro, XP_047304954.1:p.Leu287Pro, XP_047304962.1:p.Leu287Pro, XP_047304959.1:p.Leu276Pro, XP_047304952.1:p.Leu276Pro, XP_047304957.1:p.Leu248Pro, XP_047304958.1:p.Leu276Pro, XP_047304955.1:p.Leu285Pro, XP_047304965.1:p.Leu276Pro, XP_047304967.1:p.Leu248Pro, XP_047304963.1:p.Leu276Pro, XP_047304969.1:p.Leu248Pro, XP_047304966.1:p.Leu285Pro, XP_047304971.1:p.Leu276Pro, XP_047304970.1:p.Leu248Pro

                                      19.

                                      rs1438576749 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        3:134531907 (GRCh38)
                                        3:134250749 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:134531906:A:C
                                        Gene:
                                        CEP63 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,5_prime_UTR_variant,non_coding_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_000003.12:g.134531907A>C, NC_000003.11:g.134250749A>C, NG_032870.1:g.51175A>C, NM_025180.5:c.285A>C, NM_025180.4:c.285A>C, NM_025180.3:c.285A>C, NM_001353108.3:c.285A>C, NM_001353108.2:c.285A>C, NM_001353108.1:c.285A>C, NM_001042400.3:c.285A>C, NM_001042400.2:c.285A>C, NM_001042400.1:c.285A>C, NR_148352.2:n.810A>C, NR_148352.1:n.694A>C, NM_001353112.2:c.285A>C, NM_001353112.1:c.285A>C, NR_148353.2:n.810A>C, NR_148353.1:n.694A>C, NM_001353111.2:c.285A>C, NM_001353111.1:c.285A>C, NR_148354.2:n.810A>C, NR_148354.1:n.694A>C, NM_001353126.2:c.-97A>C, NM_001353126.1:c.-97A>C, NM_001353121.2:c.285A>C, NM_001353121.1:c.285A>C, NM_001353119.2:c.285A>C, NM_001353119.1:c.285A>C, NM_001353125.2:c.201A>C, NM_001353125.1:c.201A>C, NM_001042383.2:c.285A>C, NM_001042383.1:c.285A>C, NM_001353120.2:c.285A>C, NM_001353120.1:c.285A>C, NM_001353124.2:c.285A>C, NM_001353124.1:c.285A>C, NM_001042384.2:c.285A>C, NM_001042384.1:c.285A>C, NM_001353117.2:c.285A>C, NM_001353117.1:c.285A>C, NM_001353123.2:c.285A>C, NM_001353123.1:c.285A>C, NM_001353109.1:c.285A>C, NR_148355.1:n.639A>C, NM_001353110.1:c.285A>C, NM_001353122.1:c.285A>C, NM_001353118.1:c.312A>C, NM_001353113.1:c.285A>C, XM_005247795.6:c.312A>C, XM_005247795.5:c.312A>C, XM_005247795.4:c.312A>C, XM_005247795.3:c.312A>C, XM_005247795.2:c.312A>C, XM_005247795.1:c.312A>C, XM_006713760.5:c.285A>C, XM_006713760.4:c.285A>C, XM_006713760.3:c.285A>C, XM_006713760.2:c.285A>C, XM_006713760.1:c.285A>C, XM_005247797.4:c.285A>C, XM_005247797.3:c.285A>C, XM_005247797.2:c.285A>C, XM_005247797.1:c.285A>C, XM_017007248.3:c.285A>C, XM_017007248.2:c.285A>C, XM_017007248.1:c.285A>C, XM_017007247.3:c.285A>C, XM_017007247.2:c.285A>C, XM_017007247.1:c.285A>C, XR_002959589.2:n.411A>C, XR_002959589.1:n.339A>C, XM_017007249.2:c.285A>C, XM_017007249.1:c.285A>C, XM_024453768.2:c.318A>C, XM_024453768.1:c.318A>C, XM_024453769.2:c.201A>C, XM_024453769.1:c.201A>C, XM_024453771.2:c.201A>C, XM_024453771.1:c.201A>C, XM_024453772.2:c.201A>C, XM_024453772.1:c.201A>C, XM_024453778.2:c.201A>C, XM_024453778.1:c.201A>C, XM_024453777.2:c.312A>C, XM_024453777.1:c.201A>C, XR_007095734.1:n.620A>C, XR_007095732.1:n.411A>C, XR_007095735.1:n.456A>C, XR_007095730.1:n.306A>C, XR_007095733.1:n.810A>C, XM_047449005.1:c.285A>C, XM_047449000.1:c.201A>C, XM_047449008.1:c.285A>C, XM_047448998.1:c.318A>C, XM_047449006.1:c.318A>C, XM_047449003.1:c.285A>C, XM_047448996.1:c.285A>C, XM_047449001.1:c.201A>C, XM_047449002.1:c.285A>C, XM_047448999.1:c.312A>C, XM_047449009.1:c.285A>C, XM_047449011.1:c.201A>C, XM_047449007.1:c.285A>C, XM_047449013.1:c.201A>C, XM_047449010.1:c.312A>C, XR_007095731.1:n.306A>C, XR_007095729.1:n.306A>C, XM_047449015.1:c.285A>C, XM_047449014.1:c.201A>C, NP_079456.2:p.Glu95Asp, NP_001340037.1:p.Glu95Asp, NP_001035859.1:p.Glu95Asp, NP_001340041.1:p.Glu95Asp, NP_001340040.1:p.Glu95Asp, NP_001340050.1:p.Glu95Asp, NP_001340048.1:p.Glu95Asp, NP_001340054.1:p.Glu67Asp, NP_001035842.1:p.Glu95Asp, NP_001340049.1:p.Glu95Asp, NP_001340053.1:p.Glu95Asp, NP_001035843.1:p.Glu95Asp, NP_001340046.1:p.Glu95Asp, NP_001340052.1:p.Glu95Asp, NP_001340038.1:p.Glu95Asp, NP_001340039.1:p.Glu95Asp, NP_001340051.1:p.Glu95Asp, NP_001340047.1:p.Glu104Asp, NP_001340042.1:p.Glu95Asp, XP_005247852.1:p.Glu104Asp, XP_006713823.1:p.Glu95Asp, XP_005247854.1:p.Glu95Asp, XP_016862737.1:p.Glu95Asp, XP_016862736.1:p.Glu95Asp, XP_016862738.1:p.Glu95Asp, XP_024309536.1:p.Glu106Asp, XP_024309537.1:p.Glu67Asp, XP_024309539.1:p.Glu67Asp, XP_024309540.1:p.Glu67Asp, XP_024309546.1:p.Glu67Asp, XP_024309545.2:p.Glu104Asp, XP_047304961.1:p.Glu95Asp, XP_047304956.1:p.Glu67Asp, XP_047304964.1:p.Glu95Asp, XP_047304954.1:p.Glu106Asp, XP_047304962.1:p.Glu106Asp, XP_047304959.1:p.Glu95Asp, XP_047304952.1:p.Glu95Asp, XP_047304957.1:p.Glu67Asp, XP_047304958.1:p.Glu95Asp, XP_047304955.1:p.Glu104Asp, XP_047304965.1:p.Glu95Asp, XP_047304967.1:p.Glu67Asp, XP_047304963.1:p.Glu95Asp, XP_047304969.1:p.Glu67Asp, XP_047304966.1:p.Glu104Asp, XP_047304971.1:p.Glu95Asp, XP_047304970.1:p.Glu67Asp

                                        20.

                                        rs1435956003 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:134507158 (GRCh38)
                                          3:134226000 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:134507157:A:G
                                          Gene:
                                          CEP63 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.134507158A>G, NC_000003.11:g.134226000A>G, NG_032870.1:g.26426A>G, NM_025180.5:c.94A>G, NM_025180.4:c.94A>G, NM_025180.3:c.94A>G, NM_001353108.3:c.94A>G, NM_001353108.2:c.94A>G, NM_001353108.1:c.94A>G, NM_001042400.3:c.94A>G, NM_001042400.2:c.94A>G, NM_001042400.1:c.94A>G, NR_148352.2:n.619A>G, NR_148352.1:n.503A>G, NM_001353112.2:c.94A>G, NM_001353112.1:c.94A>G, NR_148353.2:n.619A>G, NR_148353.1:n.503A>G, NM_001353111.2:c.94A>G, NM_001353111.1:c.94A>G, NR_148354.2:n.619A>G, NR_148354.1:n.503A>G, NM_001353126.2:c.-288A>G, NM_001353126.1:c.-288A>G, NM_001353121.2:c.94A>G, NM_001353121.1:c.94A>G, NM_001353119.2:c.94A>G, NM_001353119.1:c.94A>G, NM_001353125.2:c.10A>G, NM_001353125.1:c.10A>G, NM_001042383.2:c.94A>G, NM_001042383.1:c.94A>G, NM_001353120.2:c.94A>G, NM_001353120.1:c.94A>G, NM_001353124.2:c.94A>G, NM_001353124.1:c.94A>G, NM_001042384.2:c.94A>G, NM_001042384.1:c.94A>G, NM_001353117.2:c.94A>G, NM_001353117.1:c.94A>G, NM_001353123.2:c.94A>G, NM_001353123.1:c.94A>G, NM_001353109.1:c.94A>G, NR_148355.1:n.448A>G, NM_001353110.1:c.94A>G, NM_001353122.1:c.94A>G, NM_001353118.1:c.121A>G, NM_001353113.1:c.94A>G, XM_005247795.6:c.121A>G, XM_005247795.5:c.121A>G, XM_005247795.4:c.121A>G, XM_005247795.3:c.121A>G, XM_005247795.2:c.121A>G, XM_005247795.1:c.121A>G, XM_006713760.5:c.94A>G, XM_006713760.4:c.94A>G, XM_006713760.3:c.94A>G, XM_006713760.2:c.94A>G, XM_006713760.1:c.94A>G, XM_005247797.4:c.94A>G, XM_005247797.3:c.94A>G, XM_005247797.2:c.94A>G, XM_005247797.1:c.94A>G, XM_017007248.3:c.94A>G, XM_017007248.2:c.94A>G, XM_017007248.1:c.94A>G, XM_017007247.3:c.94A>G, XM_017007247.2:c.94A>G, XM_017007247.1:c.94A>G, XR_002959589.2:n.220A>G, XR_002959589.1:n.148A>G, XM_017007249.2:c.94A>G, XM_017007249.1:c.94A>G, XM_024453768.2:c.127A>G, XM_024453768.1:c.127A>G, XM_024453769.2:c.10A>G, XM_024453769.1:c.10A>G, XM_024453771.2:c.10A>G, XM_024453771.1:c.10A>G, XM_024453772.2:c.10A>G, XM_024453772.1:c.10A>G, XM_024453778.2:c.10A>G, XM_024453778.1:c.10A>G, XM_024453777.2:c.121A>G, XM_024453777.1:c.10A>G, XR_007095734.1:n.429A>G, XR_007095732.1:n.220A>G, XR_007095735.1:n.265A>G, XR_007095730.1:n.115A>G, XR_007095733.1:n.619A>G, XM_047449005.1:c.94A>G, XM_047449000.1:c.10A>G, XM_047449008.1:c.94A>G, XM_047448998.1:c.127A>G, XM_047449006.1:c.127A>G, XM_047449003.1:c.94A>G, XM_047448996.1:c.94A>G, XM_047449001.1:c.10A>G, XM_047449002.1:c.94A>G, XM_047448999.1:c.121A>G, XM_047449009.1:c.94A>G, XM_047449011.1:c.10A>G, XM_047449007.1:c.94A>G, XM_047449013.1:c.10A>G, XM_047449010.1:c.121A>G, XR_007095731.1:n.115A>G, XR_007095729.1:n.115A>G, XM_047449015.1:c.94A>G, XM_047449014.1:c.10A>G, NP_079456.2:p.Ile32Val, NP_001340037.1:p.Ile32Val, NP_001035859.1:p.Ile32Val, NP_001340041.1:p.Ile32Val, NP_001340040.1:p.Ile32Val, NP_001340050.1:p.Ile32Val, NP_001340048.1:p.Ile32Val, NP_001340054.1:p.Ile4Val, NP_001035842.1:p.Ile32Val, NP_001340049.1:p.Ile32Val, NP_001340053.1:p.Ile32Val, NP_001035843.1:p.Ile32Val, NP_001340046.1:p.Ile32Val, NP_001340052.1:p.Ile32Val, NP_001340038.1:p.Ile32Val, NP_001340039.1:p.Ile32Val, NP_001340051.1:p.Ile32Val, NP_001340047.1:p.Ile41Val, NP_001340042.1:p.Ile32Val, XP_005247852.1:p.Ile41Val, XP_006713823.1:p.Ile32Val, XP_005247854.1:p.Ile32Val, XP_016862737.1:p.Ile32Val, XP_016862736.1:p.Ile32Val, XP_016862738.1:p.Ile32Val, XP_024309536.1:p.Ile43Val, XP_024309537.1:p.Ile4Val, XP_024309539.1:p.Ile4Val, XP_024309540.1:p.Ile4Val, XP_024309546.1:p.Ile4Val, XP_024309545.2:p.Ile41Val, XP_047304961.1:p.Ile32Val, XP_047304956.1:p.Ile4Val, XP_047304964.1:p.Ile32Val, XP_047304954.1:p.Ile43Val, XP_047304962.1:p.Ile43Val, XP_047304959.1:p.Ile32Val, XP_047304952.1:p.Ile32Val, XP_047304957.1:p.Ile4Val, XP_047304958.1:p.Ile32Val, XP_047304955.1:p.Ile41Val, XP_047304965.1:p.Ile32Val, XP_047304967.1:p.Ile4Val, XP_047304963.1:p.Ile32Val, XP_047304969.1:p.Ile4Val, XP_047304966.1:p.Ile41Val, XP_047304971.1:p.Ile32Val, XP_047304970.1:p.Ile4Val

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