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Items: 1 to 20 of 516

1.

rs1490400227 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    3:170129455 (GRCh38)
    3:169847243 (GRCh37)
    Canonical SPDI:
    NC_000003.12:170129454:T:G
    Gene:
    PHC3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.170129455T>G, NC_000003.11:g.169847243T>G, XM_006713754.5:c.981A>C, XM_006713754.4:c.981A>C, XM_006713754.3:c.981A>C, XM_006713754.2:c.981A>C, XM_006713754.1:c.981A>C, XM_005247791.5:c.1017A>C, XM_005247791.4:c.1017A>C, XM_005247791.3:c.1017A>C, XM_005247791.2:c.1017A>C, XM_005247791.1:c.1017A>C, XM_006713757.5:c.1017A>C, XM_006713757.4:c.1017A>C, XM_006713757.3:c.1017A>C, XM_006713757.2:c.1017A>C, XM_006713757.1:c.1017A>C, XM_005247789.4:c.1017A>C, XM_005247789.3:c.1017A>C, XM_005247789.2:c.1017A>C, XM_005247789.1:c.1017A>C, NM_024947.4:c.1017A>C, NM_024947.3:c.1017A>C, XM_011513188.4:c.858A>C, XM_011513188.3:c.858A>C, XM_011513188.2:c.858A>C, XM_011513188.1:c.858A>C, XM_006713756.4:c.759A>C, XM_006713756.3:c.759A>C, XM_006713756.2:c.759A>C, XM_006713756.1:c.759A>C, XM_011513189.4:c.858A>C, XM_011513189.3:c.858A>C, XM_011513189.2:c.858A>C, XM_011513189.1:c.858A>C, XM_005247793.4:c.1017A>C, XM_005247793.3:c.1017A>C, XM_005247793.2:c.1017A>C, XM_005247793.1:c.1017A>C, XM_006713753.3:c.981A>C, XM_006713753.2:c.981A>C, XM_006713753.1:c.981A>C, XM_017007235.3:c.1005A>C, XM_017007235.2:c.1005A>C, XM_017007235.1:c.1005A>C, XM_017007237.3:c.858A>C, XM_017007237.2:c.858A>C, XM_017007237.1:c.858A>C, XM_017007238.3:c.759A>C, XM_017007238.2:c.759A>C, XM_017007238.1:c.759A>C, NM_001308116.2:c.981A>C, NM_001308116.1:c.981A>C, XM_047448982.1:c.981A>C, XM_047448983.1:c.1005A>C, XM_047448984.1:c.846A>C, XM_047448986.1:c.846A>C, XM_047448987.1:c.747A>C, XM_047448988.1:c.747A>C, XM_047448989.1:c.1017A>C, XM_047448990.1:c.846A>C, XM_047448991.1:c.759A>C, XP_006713817.1:p.Leu327Phe, XP_005247848.1:p.Leu339Phe, XP_006713820.1:p.Leu339Phe, XP_005247846.1:p.Leu339Phe, NP_079223.3:p.Leu339Phe, XP_011511490.1:p.Leu286Phe, XP_006713819.1:p.Leu253Phe, XP_011511491.1:p.Leu286Phe, XP_005247850.1:p.Leu339Phe, XP_006713816.1:p.Leu327Phe, XP_016862724.1:p.Leu335Phe, XP_016862726.1:p.Leu286Phe, XP_016862727.1:p.Leu253Phe, NP_001295045.1:p.Leu327Phe, XP_047304938.1:p.Leu327Phe, XP_047304939.1:p.Leu335Phe, XP_047304940.1:p.Leu282Phe, XP_047304942.1:p.Leu282Phe, XP_047304943.1:p.Leu249Phe, XP_047304944.1:p.Leu249Phe, XP_047304945.1:p.Leu339Phe, XP_047304946.1:p.Leu282Phe, XP_047304947.1:p.Leu253Phe

    2.

    rs1482167734 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      3:170129123 (GRCh38)
      3:169846911 (GRCh37)
      Canonical SPDI:
      NC_000003.12:170129122:T:C,NC_000003.12:170129122:T:G
      Gene:
      PHC3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000003.12:g.170129123T>C, NC_000003.12:g.170129123T>G, NC_000003.11:g.169846911T>C, NC_000003.11:g.169846911T>G, XM_006713754.5:c.1313A>G, XM_006713754.5:c.1313A>C, XM_006713754.4:c.1313A>G, XM_006713754.4:c.1313A>C, XM_006713754.3:c.1313A>G, XM_006713754.3:c.1313A>C, XM_006713754.2:c.1313A>G, XM_006713754.2:c.1313A>C, XM_006713754.1:c.1313A>G, XM_006713754.1:c.1313A>C, XM_005247791.5:c.1349A>G, XM_005247791.5:c.1349A>C, XM_005247791.4:c.1349A>G, XM_005247791.4:c.1349A>C, XM_005247791.3:c.1349A>G, XM_005247791.3:c.1349A>C, XM_005247791.2:c.1349A>G, XM_005247791.2:c.1349A>C, XM_005247791.1:c.1349A>G, XM_005247791.1:c.1349A>C, XM_006713757.5:c.1349A>G, XM_006713757.5:c.1349A>C, XM_006713757.4:c.1349A>G, XM_006713757.4:c.1349A>C, XM_006713757.3:c.1349A>G, XM_006713757.3:c.1349A>C, XM_006713757.2:c.1349A>G, XM_006713757.2:c.1349A>C, XM_006713757.1:c.1349A>G, XM_006713757.1:c.1349A>C, XM_005247789.4:c.1349A>G, XM_005247789.4:c.1349A>C, XM_005247789.3:c.1349A>G, XM_005247789.3:c.1349A>C, XM_005247789.2:c.1349A>G, XM_005247789.2:c.1349A>C, XM_005247789.1:c.1349A>G, XM_005247789.1:c.1349A>C, NM_024947.4:c.1349A>G, NM_024947.4:c.1349A>C, NM_024947.3:c.1349A>G, NM_024947.3:c.1349A>C, XM_011513188.4:c.1190A>G, XM_011513188.4:c.1190A>C, XM_011513188.3:c.1190A>G, XM_011513188.3:c.1190A>C, XM_011513188.2:c.1190A>G, XM_011513188.2:c.1190A>C, XM_011513188.1:c.1190A>G, XM_011513188.1:c.1190A>C, XM_006713756.4:c.1091A>G, XM_006713756.4:c.1091A>C, XM_006713756.3:c.1091A>G, XM_006713756.3:c.1091A>C, XM_006713756.2:c.1091A>G, XM_006713756.2:c.1091A>C, XM_006713756.1:c.1091A>G, XM_006713756.1:c.1091A>C, XM_011513189.4:c.1190A>G, XM_011513189.4:c.1190A>C, XM_011513189.3:c.1190A>G, XM_011513189.3:c.1190A>C, XM_011513189.2:c.1190A>G, XM_011513189.2:c.1190A>C, XM_011513189.1:c.1190A>G, XM_011513189.1:c.1190A>C, XM_005247793.4:c.1349A>G, XM_005247793.4:c.1349A>C, XM_005247793.3:c.1349A>G, XM_005247793.3:c.1349A>C, XM_005247793.2:c.1349A>G, XM_005247793.2:c.1349A>C, XM_005247793.1:c.1349A>G, XM_005247793.1:c.1349A>C, XM_006713753.3:c.1313A>G, XM_006713753.3:c.1313A>C, XM_006713753.2:c.1313A>G, XM_006713753.2:c.1313A>C, XM_006713753.1:c.1313A>G, XM_006713753.1:c.1313A>C, XM_017007235.3:c.1337A>G, XM_017007235.3:c.1337A>C, XM_017007235.2:c.1337A>G, XM_017007235.2:c.1337A>C, XM_017007235.1:c.1337A>G, XM_017007235.1:c.1337A>C, XM_017007237.3:c.1190A>G, XM_017007237.3:c.1190A>C, XM_017007237.2:c.1190A>G, XM_017007237.2:c.1190A>C, XM_017007237.1:c.1190A>G, XM_017007237.1:c.1190A>C, XM_017007238.3:c.1091A>G, XM_017007238.3:c.1091A>C, XM_017007238.2:c.1091A>G, XM_017007238.2:c.1091A>C, XM_017007238.1:c.1091A>G, XM_017007238.1:c.1091A>C, NM_001308116.2:c.1313A>G, NM_001308116.2:c.1313A>C, NM_001308116.1:c.1313A>G, NM_001308116.1:c.1313A>C, XM_047448982.1:c.1313A>G, XM_047448982.1:c.1313A>C, XM_047448983.1:c.1337A>G, XM_047448983.1:c.1337A>C, XM_047448984.1:c.1178A>G, XM_047448984.1:c.1178A>C, XM_047448986.1:c.1178A>G, XM_047448986.1:c.1178A>C, XM_047448987.1:c.1079A>G, XM_047448987.1:c.1079A>C, XM_047448988.1:c.1079A>G, XM_047448988.1:c.1079A>C, XM_047448989.1:c.1349A>G, XM_047448989.1:c.1349A>C, XM_047448990.1:c.1178A>G, XM_047448990.1:c.1178A>C, XM_047448991.1:c.1091A>G, XM_047448991.1:c.1091A>C, XP_006713817.1:p.Gln438Arg, XP_006713817.1:p.Gln438Pro, XP_005247848.1:p.Gln450Arg, XP_005247848.1:p.Gln450Pro, XP_006713820.1:p.Gln450Arg, XP_006713820.1:p.Gln450Pro, XP_005247846.1:p.Gln450Arg, XP_005247846.1:p.Gln450Pro, NP_079223.3:p.Gln450Arg, NP_079223.3:p.Gln450Pro, XP_011511490.1:p.Gln397Arg, XP_011511490.1:p.Gln397Pro, XP_006713819.1:p.Gln364Arg, XP_006713819.1:p.Gln364Pro, XP_011511491.1:p.Gln397Arg, XP_011511491.1:p.Gln397Pro, XP_005247850.1:p.Gln450Arg, XP_005247850.1:p.Gln450Pro, XP_006713816.1:p.Gln438Arg, XP_006713816.1:p.Gln438Pro, XP_016862724.1:p.Gln446Arg, XP_016862724.1:p.Gln446Pro, XP_016862726.1:p.Gln397Arg, XP_016862726.1:p.Gln397Pro, XP_016862727.1:p.Gln364Arg, XP_016862727.1:p.Gln364Pro, NP_001295045.1:p.Gln438Arg, NP_001295045.1:p.Gln438Pro, XP_047304938.1:p.Gln438Arg, XP_047304938.1:p.Gln438Pro, XP_047304939.1:p.Gln446Arg, XP_047304939.1:p.Gln446Pro, XP_047304940.1:p.Gln393Arg, XP_047304940.1:p.Gln393Pro, XP_047304942.1:p.Gln393Arg, XP_047304942.1:p.Gln393Pro, XP_047304943.1:p.Gln360Arg, XP_047304943.1:p.Gln360Pro, XP_047304944.1:p.Gln360Arg, XP_047304944.1:p.Gln360Pro, XP_047304945.1:p.Gln450Arg, XP_047304945.1:p.Gln450Pro, XP_047304946.1:p.Gln393Arg, XP_047304946.1:p.Gln393Pro, XP_047304947.1:p.Gln364Arg, XP_047304947.1:p.Gln364Pro

      3.

      rs1480747435 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        3:170145470 (GRCh38)
        3:169863258 (GRCh37)
        Canonical SPDI:
        NC_000003.12:170145469:C:G,NC_000003.12:170145469:C:T
        Gene:
        PHC3 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000003.12:g.170145470C>G, NC_000003.12:g.170145470C>T, NC_000003.11:g.169863258C>G, NC_000003.11:g.169863258C>T, XM_006713754.5:c.589G>C, XM_006713754.5:c.589G>A, XM_006713754.4:c.589G>C, XM_006713754.4:c.589G>A, XM_006713754.3:c.589G>C, XM_006713754.3:c.589G>A, XM_006713754.2:c.589G>C, XM_006713754.2:c.589G>A, XM_006713754.1:c.589G>C, XM_006713754.1:c.589G>A, XM_005247791.5:c.625G>C, XM_005247791.5:c.625G>A, XM_005247791.4:c.625G>C, XM_005247791.4:c.625G>A, XM_005247791.3:c.625G>C, XM_005247791.3:c.625G>A, XM_005247791.2:c.625G>C, XM_005247791.2:c.625G>A, XM_005247791.1:c.625G>C, XM_005247791.1:c.625G>A, XM_006713757.5:c.625G>C, XM_006713757.5:c.625G>A, XM_006713757.4:c.625G>C, XM_006713757.4:c.625G>A, XM_006713757.3:c.625G>C, XM_006713757.3:c.625G>A, XM_006713757.2:c.625G>C, XM_006713757.2:c.625G>A, XM_006713757.1:c.625G>C, XM_006713757.1:c.625G>A, XM_005247789.4:c.625G>C, XM_005247789.4:c.625G>A, XM_005247789.3:c.625G>C, XM_005247789.3:c.625G>A, XM_005247789.2:c.625G>C, XM_005247789.2:c.625G>A, XM_005247789.1:c.625G>C, XM_005247789.1:c.625G>A, NM_024947.4:c.625G>C, NM_024947.4:c.625G>A, NM_024947.3:c.625G>C, NM_024947.3:c.625G>A, XM_011513188.4:c.466G>C, XM_011513188.4:c.466G>A, XM_011513188.3:c.466G>C, XM_011513188.3:c.466G>A, XM_011513188.2:c.466G>C, XM_011513188.2:c.466G>A, XM_011513188.1:c.466G>C, XM_011513188.1:c.466G>A, XM_011513189.4:c.466G>C, XM_011513189.4:c.466G>A, XM_011513189.3:c.466G>C, XM_011513189.3:c.466G>A, XM_011513189.2:c.466G>C, XM_011513189.2:c.466G>A, XM_011513189.1:c.466G>C, XM_011513189.1:c.466G>A, XM_005247793.4:c.625G>C, XM_005247793.4:c.625G>A, XM_005247793.3:c.625G>C, XM_005247793.3:c.625G>A, XM_005247793.2:c.625G>C, XM_005247793.2:c.625G>A, XM_005247793.1:c.625G>C, XM_005247793.1:c.625G>A, XM_006713753.3:c.589G>C, XM_006713753.3:c.589G>A, XM_006713753.2:c.589G>C, XM_006713753.2:c.589G>A, XM_006713753.1:c.589G>C, XM_006713753.1:c.589G>A, XM_017007235.3:c.613G>C, XM_017007235.3:c.613G>A, XM_017007235.2:c.613G>C, XM_017007235.2:c.613G>A, XM_017007235.1:c.613G>C, XM_017007235.1:c.613G>A, XM_017007237.3:c.466G>C, XM_017007237.3:c.466G>A, XM_017007237.2:c.466G>C, XM_017007237.2:c.466G>A, XM_017007237.1:c.466G>C, XM_017007237.1:c.466G>A, NM_001308116.2:c.589G>C, NM_001308116.2:c.589G>A, NM_001308116.1:c.589G>C, NM_001308116.1:c.589G>A, XM_047448982.1:c.589G>C, XM_047448982.1:c.589G>A, XM_047448983.1:c.613G>C, XM_047448983.1:c.613G>A, XM_047448984.1:c.454G>C, XM_047448984.1:c.454G>A, XM_047448986.1:c.454G>C, XM_047448986.1:c.454G>A, XM_047448989.1:c.625G>C, XM_047448989.1:c.625G>A, XM_047448990.1:c.454G>C, XM_047448990.1:c.454G>A, XP_006713817.1:p.Val197Leu, XP_006713817.1:p.Val197Ile, XP_005247848.1:p.Val209Leu, XP_005247848.1:p.Val209Ile, XP_006713820.1:p.Val209Leu, XP_006713820.1:p.Val209Ile, XP_005247846.1:p.Val209Leu, XP_005247846.1:p.Val209Ile, NP_079223.3:p.Val209Leu, NP_079223.3:p.Val209Ile, XP_011511490.1:p.Val156Leu, XP_011511490.1:p.Val156Ile, XP_011511491.1:p.Val156Leu, XP_011511491.1:p.Val156Ile, XP_005247850.1:p.Val209Leu, XP_005247850.1:p.Val209Ile, XP_006713816.1:p.Val197Leu, XP_006713816.1:p.Val197Ile, XP_016862724.1:p.Val205Leu, XP_016862724.1:p.Val205Ile, XP_016862726.1:p.Val156Leu, XP_016862726.1:p.Val156Ile, NP_001295045.1:p.Val197Leu, NP_001295045.1:p.Val197Ile, XP_047304938.1:p.Val197Leu, XP_047304938.1:p.Val197Ile, XP_047304939.1:p.Val205Leu, XP_047304939.1:p.Val205Ile, XP_047304940.1:p.Val152Leu, XP_047304940.1:p.Val152Ile, XP_047304942.1:p.Val152Leu, XP_047304942.1:p.Val152Ile, XP_047304945.1:p.Val209Leu, XP_047304945.1:p.Val209Ile, XP_047304946.1:p.Val152Leu, XP_047304946.1:p.Val152Ile

        4.

        rs1480643187 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:170129360 (GRCh38)
          3:169847148 (GRCh37)
          Canonical SPDI:
          NC_000003.12:170129359:C:T
          Gene:
          PHC3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.170129360C>T, NC_000003.11:g.169847148C>T, XM_006713754.5:c.1076G>A, XM_006713754.4:c.1076G>A, XM_006713754.3:c.1076G>A, XM_006713754.2:c.1076G>A, XM_006713754.1:c.1076G>A, XM_005247791.5:c.1112G>A, XM_005247791.4:c.1112G>A, XM_005247791.3:c.1112G>A, XM_005247791.2:c.1112G>A, XM_005247791.1:c.1112G>A, XM_006713757.5:c.1112G>A, XM_006713757.4:c.1112G>A, XM_006713757.3:c.1112G>A, XM_006713757.2:c.1112G>A, XM_006713757.1:c.1112G>A, XM_005247789.4:c.1112G>A, XM_005247789.3:c.1112G>A, XM_005247789.2:c.1112G>A, XM_005247789.1:c.1112G>A, NM_024947.4:c.1112G>A, NM_024947.3:c.1112G>A, XM_011513188.4:c.953G>A, XM_011513188.3:c.953G>A, XM_011513188.2:c.953G>A, XM_011513188.1:c.953G>A, XM_006713756.4:c.854G>A, XM_006713756.3:c.854G>A, XM_006713756.2:c.854G>A, XM_006713756.1:c.854G>A, XM_011513189.4:c.953G>A, XM_011513189.3:c.953G>A, XM_011513189.2:c.953G>A, XM_011513189.1:c.953G>A, XM_005247793.4:c.1112G>A, XM_005247793.3:c.1112G>A, XM_005247793.2:c.1112G>A, XM_005247793.1:c.1112G>A, XM_006713753.3:c.1076G>A, XM_006713753.2:c.1076G>A, XM_006713753.1:c.1076G>A, XM_017007235.3:c.1100G>A, XM_017007235.2:c.1100G>A, XM_017007235.1:c.1100G>A, XM_017007237.3:c.953G>A, XM_017007237.2:c.953G>A, XM_017007237.1:c.953G>A, XM_017007238.3:c.854G>A, XM_017007238.2:c.854G>A, XM_017007238.1:c.854G>A, NM_001308116.2:c.1076G>A, NM_001308116.1:c.1076G>A, XM_047448982.1:c.1076G>A, XM_047448983.1:c.1100G>A, XM_047448984.1:c.941G>A, XM_047448986.1:c.941G>A, XM_047448987.1:c.842G>A, XM_047448988.1:c.842G>A, XM_047448989.1:c.1112G>A, XM_047448990.1:c.941G>A, XM_047448991.1:c.854G>A, XP_006713817.1:p.Gly359Asp, XP_005247848.1:p.Gly371Asp, XP_006713820.1:p.Gly371Asp, XP_005247846.1:p.Gly371Asp, NP_079223.3:p.Gly371Asp, XP_011511490.1:p.Gly318Asp, XP_006713819.1:p.Gly285Asp, XP_011511491.1:p.Gly318Asp, XP_005247850.1:p.Gly371Asp, XP_006713816.1:p.Gly359Asp, XP_016862724.1:p.Gly367Asp, XP_016862726.1:p.Gly318Asp, XP_016862727.1:p.Gly285Asp, NP_001295045.1:p.Gly359Asp, XP_047304938.1:p.Gly359Asp, XP_047304939.1:p.Gly367Asp, XP_047304940.1:p.Gly314Asp, XP_047304942.1:p.Gly314Asp, XP_047304943.1:p.Gly281Asp, XP_047304944.1:p.Gly281Asp, XP_047304945.1:p.Gly371Asp, XP_047304946.1:p.Gly314Asp, XP_047304947.1:p.Gly285Asp

          5.

          rs1479014613 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            3:170129314 (GRCh38)
            3:169847102 (GRCh37)
            Canonical SPDI:
            NC_000003.12:170129313:C:A,NC_000003.12:170129313:C:T
            Gene:
            PHC3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000015/4 (TOPMED)
            HGVS:
            NC_000003.12:g.170129314C>A, NC_000003.12:g.170129314C>T, NC_000003.11:g.169847102C>A, NC_000003.11:g.169847102C>T, XM_006713754.5:c.1122G>T, XM_006713754.5:c.1122G>A, XM_006713754.4:c.1122G>T, XM_006713754.4:c.1122G>A, XM_006713754.3:c.1122G>T, XM_006713754.3:c.1122G>A, XM_006713754.2:c.1122G>T, XM_006713754.2:c.1122G>A, XM_006713754.1:c.1122G>T, XM_006713754.1:c.1122G>A, XM_005247791.5:c.1158G>T, XM_005247791.5:c.1158G>A, XM_005247791.4:c.1158G>T, XM_005247791.4:c.1158G>A, XM_005247791.3:c.1158G>T, XM_005247791.3:c.1158G>A, XM_005247791.2:c.1158G>T, XM_005247791.2:c.1158G>A, XM_005247791.1:c.1158G>T, XM_005247791.1:c.1158G>A, XM_006713757.5:c.1158G>T, XM_006713757.5:c.1158G>A, XM_006713757.4:c.1158G>T, XM_006713757.4:c.1158G>A, XM_006713757.3:c.1158G>T, XM_006713757.3:c.1158G>A, XM_006713757.2:c.1158G>T, XM_006713757.2:c.1158G>A, XM_006713757.1:c.1158G>T, XM_006713757.1:c.1158G>A, XM_005247789.4:c.1158G>T, XM_005247789.4:c.1158G>A, XM_005247789.3:c.1158G>T, XM_005247789.3:c.1158G>A, XM_005247789.2:c.1158G>T, XM_005247789.2:c.1158G>A, XM_005247789.1:c.1158G>T, XM_005247789.1:c.1158G>A, NM_024947.4:c.1158G>T, NM_024947.4:c.1158G>A, NM_024947.3:c.1158G>T, NM_024947.3:c.1158G>A, XM_011513188.4:c.999G>T, XM_011513188.4:c.999G>A, XM_011513188.3:c.999G>T, XM_011513188.3:c.999G>A, XM_011513188.2:c.999G>T, XM_011513188.2:c.999G>A, XM_011513188.1:c.999G>T, XM_011513188.1:c.999G>A, XM_006713756.4:c.900G>T, XM_006713756.4:c.900G>A, XM_006713756.3:c.900G>T, XM_006713756.3:c.900G>A, XM_006713756.2:c.900G>T, XM_006713756.2:c.900G>A, XM_006713756.1:c.900G>T, XM_006713756.1:c.900G>A, XM_011513189.4:c.999G>T, XM_011513189.4:c.999G>A, XM_011513189.3:c.999G>T, XM_011513189.3:c.999G>A, XM_011513189.2:c.999G>T, XM_011513189.2:c.999G>A, XM_011513189.1:c.999G>T, XM_011513189.1:c.999G>A, XM_005247793.4:c.1158G>T, XM_005247793.4:c.1158G>A, XM_005247793.3:c.1158G>T, XM_005247793.3:c.1158G>A, XM_005247793.2:c.1158G>T, XM_005247793.2:c.1158G>A, XM_005247793.1:c.1158G>T, XM_005247793.1:c.1158G>A, XM_006713753.3:c.1122G>T, XM_006713753.3:c.1122G>A, XM_006713753.2:c.1122G>T, XM_006713753.2:c.1122G>A, XM_006713753.1:c.1122G>T, XM_006713753.1:c.1122G>A, XM_017007235.3:c.1146G>T, XM_017007235.3:c.1146G>A, XM_017007235.2:c.1146G>T, XM_017007235.2:c.1146G>A, XM_017007235.1:c.1146G>T, XM_017007235.1:c.1146G>A, XM_017007237.3:c.999G>T, XM_017007237.3:c.999G>A, XM_017007237.2:c.999G>T, XM_017007237.2:c.999G>A, XM_017007237.1:c.999G>T, XM_017007237.1:c.999G>A, XM_017007238.3:c.900G>T, XM_017007238.3:c.900G>A, XM_017007238.2:c.900G>T, XM_017007238.2:c.900G>A, XM_017007238.1:c.900G>T, XM_017007238.1:c.900G>A, NM_001308116.2:c.1122G>T, NM_001308116.2:c.1122G>A, NM_001308116.1:c.1122G>T, NM_001308116.1:c.1122G>A, XM_047448982.1:c.1122G>T, XM_047448982.1:c.1122G>A, XM_047448983.1:c.1146G>T, XM_047448983.1:c.1146G>A, XM_047448984.1:c.987G>T, XM_047448984.1:c.987G>A, XM_047448986.1:c.987G>T, XM_047448986.1:c.987G>A, XM_047448987.1:c.888G>T, XM_047448987.1:c.888G>A, XM_047448988.1:c.888G>T, XM_047448988.1:c.888G>A, XM_047448989.1:c.1158G>T, XM_047448989.1:c.1158G>A, XM_047448990.1:c.987G>T, XM_047448990.1:c.987G>A, XM_047448991.1:c.900G>T, XM_047448991.1:c.900G>A

            6.

            rs1478879384 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:170128915 (GRCh38)
              3:169846703 (GRCh37)
              Canonical SPDI:
              NC_000003.12:170128914:T:C
              Gene:
              PHC3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.170128915T>C, NC_000003.11:g.169846703T>C, XM_006713754.5:c.1521A>G, XM_006713754.4:c.1521A>G, XM_006713754.3:c.1521A>G, XM_006713754.2:c.1521A>G, XM_006713754.1:c.1521A>G, XM_005247791.5:c.1557A>G, XM_005247791.4:c.1557A>G, XM_005247791.3:c.1557A>G, XM_005247791.2:c.1557A>G, XM_005247791.1:c.1557A>G, XM_006713757.5:c.1557A>G, XM_006713757.4:c.1557A>G, XM_006713757.3:c.1557A>G, XM_006713757.2:c.1557A>G, XM_006713757.1:c.1557A>G, XM_005247789.4:c.1557A>G, XM_005247789.3:c.1557A>G, XM_005247789.2:c.1557A>G, XM_005247789.1:c.1557A>G, NM_024947.4:c.1557A>G, NM_024947.3:c.1557A>G, XM_011513188.4:c.1398A>G, XM_011513188.3:c.1398A>G, XM_011513188.2:c.1398A>G, XM_011513188.1:c.1398A>G, XM_006713756.4:c.1299A>G, XM_006713756.3:c.1299A>G, XM_006713756.2:c.1299A>G, XM_006713756.1:c.1299A>G, XM_011513189.4:c.1398A>G, XM_011513189.3:c.1398A>G, XM_011513189.2:c.1398A>G, XM_011513189.1:c.1398A>G, XM_005247793.4:c.1557A>G, XM_005247793.3:c.1557A>G, XM_005247793.2:c.1557A>G, XM_005247793.1:c.1557A>G, XM_006713753.3:c.1521A>G, XM_006713753.2:c.1521A>G, XM_006713753.1:c.1521A>G, XM_017007235.3:c.1545A>G, XM_017007235.2:c.1545A>G, XM_017007235.1:c.1545A>G, XM_017007237.3:c.1398A>G, XM_017007237.2:c.1398A>G, XM_017007237.1:c.1398A>G, XM_017007238.3:c.1299A>G, XM_017007238.2:c.1299A>G, XM_017007238.1:c.1299A>G, NM_001308116.2:c.1521A>G, NM_001308116.1:c.1521A>G, XM_047448982.1:c.1521A>G, XM_047448983.1:c.1545A>G, XM_047448984.1:c.1386A>G, XM_047448986.1:c.1386A>G, XM_047448987.1:c.1287A>G, XM_047448988.1:c.1287A>G, XM_047448989.1:c.1557A>G, XM_047448990.1:c.1386A>G, XM_047448991.1:c.1299A>G

              7.

              rs1478410657 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:170172621 (GRCh38)
                3:169890409 (GRCh37)
                Canonical SPDI:
                NC_000003.12:170172620:T:C
                Gene:
                PHC3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.170172621T>C, NC_000003.11:g.169890409T>C, XM_006713754.5:c.236A>G, XM_006713754.4:c.236A>G, XM_006713754.3:c.236A>G, XM_006713754.2:c.236A>G, XM_006713754.1:c.236A>G, XM_005247791.5:c.272A>G, XM_005247791.4:c.272A>G, XM_005247791.3:c.272A>G, XM_005247791.2:c.272A>G, XM_005247791.1:c.272A>G, XM_006713757.5:c.272A>G, XM_006713757.4:c.272A>G, XM_006713757.3:c.272A>G, XM_006713757.2:c.272A>G, XM_006713757.1:c.272A>G, XM_005247789.4:c.272A>G, XM_005247789.3:c.272A>G, XM_005247789.2:c.272A>G, XM_005247789.1:c.272A>G, NM_024947.4:c.272A>G, NM_024947.3:c.272A>G, XM_011513188.4:c.272A>G, XM_011513188.3:c.272A>G, XM_011513188.2:c.272A>G, XM_011513188.1:c.272A>G, XM_006713756.4:c.272A>G, XM_006713756.3:c.272A>G, XM_006713756.2:c.272A>G, XM_006713756.1:c.272A>G, XM_011513189.4:c.272A>G, XM_011513189.3:c.272A>G, XM_011513189.2:c.272A>G, XM_011513189.1:c.272A>G, XM_005247793.4:c.272A>G, XM_005247793.3:c.272A>G, XM_005247793.2:c.272A>G, XM_005247793.1:c.272A>G, XM_006713753.3:c.236A>G, XM_006713753.2:c.236A>G, XM_006713753.1:c.236A>G, XM_017007235.3:c.260A>G, XM_017007235.2:c.260A>G, XM_017007235.1:c.260A>G, XM_017007237.3:c.272A>G, XM_017007237.2:c.272A>G, XM_017007237.1:c.272A>G, XM_017007238.3:c.272A>G, XM_017007238.2:c.272A>G, XM_017007238.1:c.272A>G, NM_001308116.2:c.236A>G, NM_001308116.1:c.236A>G, XM_047448982.1:c.236A>G, XM_047448983.1:c.260A>G, XM_047448984.1:c.260A>G, XM_047448986.1:c.260A>G, XM_047448987.1:c.260A>G, XM_047448988.1:c.260A>G, XM_047448989.1:c.272A>G, XM_047448990.1:c.260A>G, XM_047448991.1:c.272A>G, XP_006713817.1:p.His79Arg, XP_005247848.1:p.His91Arg, XP_006713820.1:p.His91Arg, XP_005247846.1:p.His91Arg, NP_079223.3:p.His91Arg, XP_011511490.1:p.His91Arg, XP_006713819.1:p.His91Arg, XP_011511491.1:p.His91Arg, XP_005247850.1:p.His91Arg, XP_006713816.1:p.His79Arg, XP_016862724.1:p.His87Arg, XP_016862726.1:p.His91Arg, XP_016862727.1:p.His91Arg, NP_001295045.1:p.His79Arg, XP_047304938.1:p.His79Arg, XP_047304939.1:p.His87Arg, XP_047304940.1:p.His87Arg, XP_047304942.1:p.His87Arg, XP_047304943.1:p.His87Arg, XP_047304944.1:p.His87Arg, XP_047304945.1:p.His91Arg, XP_047304946.1:p.His87Arg, XP_047304947.1:p.His91Arg

                8.

                rs1471815453 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  3:170129058 (GRCh38)
                  3:169846846 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:170129057:C:G
                  Gene:
                  PHC3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  G=0.00002/5 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.170129058C>G, NC_000003.11:g.169846846C>G, XM_006713754.5:c.1378G>C, XM_006713754.4:c.1378G>C, XM_006713754.3:c.1378G>C, XM_006713754.2:c.1378G>C, XM_006713754.1:c.1378G>C, XM_005247791.5:c.1414G>C, XM_005247791.4:c.1414G>C, XM_005247791.3:c.1414G>C, XM_005247791.2:c.1414G>C, XM_005247791.1:c.1414G>C, XM_006713757.5:c.1414G>C, XM_006713757.4:c.1414G>C, XM_006713757.3:c.1414G>C, XM_006713757.2:c.1414G>C, XM_006713757.1:c.1414G>C, XM_005247789.4:c.1414G>C, XM_005247789.3:c.1414G>C, XM_005247789.2:c.1414G>C, XM_005247789.1:c.1414G>C, NM_024947.4:c.1414G>C, NM_024947.3:c.1414G>C, XM_011513188.4:c.1255G>C, XM_011513188.3:c.1255G>C, XM_011513188.2:c.1255G>C, XM_011513188.1:c.1255G>C, XM_006713756.4:c.1156G>C, XM_006713756.3:c.1156G>C, XM_006713756.2:c.1156G>C, XM_006713756.1:c.1156G>C, XM_011513189.4:c.1255G>C, XM_011513189.3:c.1255G>C, XM_011513189.2:c.1255G>C, XM_011513189.1:c.1255G>C, XM_005247793.4:c.1414G>C, XM_005247793.3:c.1414G>C, XM_005247793.2:c.1414G>C, XM_005247793.1:c.1414G>C, XM_006713753.3:c.1378G>C, XM_006713753.2:c.1378G>C, XM_006713753.1:c.1378G>C, XM_017007235.3:c.1402G>C, XM_017007235.2:c.1402G>C, XM_017007235.1:c.1402G>C, XM_017007237.3:c.1255G>C, XM_017007237.2:c.1255G>C, XM_017007237.1:c.1255G>C, XM_017007238.3:c.1156G>C, XM_017007238.2:c.1156G>C, XM_017007238.1:c.1156G>C, NM_001308116.2:c.1378G>C, NM_001308116.1:c.1378G>C, XM_047448982.1:c.1378G>C, XM_047448983.1:c.1402G>C, XM_047448984.1:c.1243G>C, XM_047448986.1:c.1243G>C, XM_047448987.1:c.1144G>C, XM_047448988.1:c.1144G>C, XM_047448989.1:c.1414G>C, XM_047448990.1:c.1243G>C, XM_047448991.1:c.1156G>C, XP_006713817.1:p.Ala460Pro, XP_005247848.1:p.Ala472Pro, XP_006713820.1:p.Ala472Pro, XP_005247846.1:p.Ala472Pro, NP_079223.3:p.Ala472Pro, XP_011511490.1:p.Ala419Pro, XP_006713819.1:p.Ala386Pro, XP_011511491.1:p.Ala419Pro, XP_005247850.1:p.Ala472Pro, XP_006713816.1:p.Ala460Pro, XP_016862724.1:p.Ala468Pro, XP_016862726.1:p.Ala419Pro, XP_016862727.1:p.Ala386Pro, NP_001295045.1:p.Ala460Pro, XP_047304938.1:p.Ala460Pro, XP_047304939.1:p.Ala468Pro, XP_047304940.1:p.Ala415Pro, XP_047304942.1:p.Ala415Pro, XP_047304943.1:p.Ala382Pro, XP_047304944.1:p.Ala382Pro, XP_047304945.1:p.Ala472Pro, XP_047304946.1:p.Ala415Pro, XP_047304947.1:p.Ala386Pro

                  9.

                  rs1471348287 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:170129141 (GRCh38)
                    3:169846929 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:170129140:G:A
                    Gene:
                    PHC3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000094/2 (ALFA)
                    A=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.170129141G>A, NC_000003.11:g.169846929G>A, XM_006713754.5:c.1295C>T, XM_006713754.4:c.1295C>T, XM_006713754.3:c.1295C>T, XM_006713754.2:c.1295C>T, XM_006713754.1:c.1295C>T, XM_005247791.5:c.1331C>T, XM_005247791.4:c.1331C>T, XM_005247791.3:c.1331C>T, XM_005247791.2:c.1331C>T, XM_005247791.1:c.1331C>T, XM_006713757.5:c.1331C>T, XM_006713757.4:c.1331C>T, XM_006713757.3:c.1331C>T, XM_006713757.2:c.1331C>T, XM_006713757.1:c.1331C>T, XM_005247789.4:c.1331C>T, XM_005247789.3:c.1331C>T, XM_005247789.2:c.1331C>T, XM_005247789.1:c.1331C>T, NM_024947.4:c.1331C>T, NM_024947.3:c.1331C>T, XM_011513188.4:c.1172C>T, XM_011513188.3:c.1172C>T, XM_011513188.2:c.1172C>T, XM_011513188.1:c.1172C>T, XM_006713756.4:c.1073C>T, XM_006713756.3:c.1073C>T, XM_006713756.2:c.1073C>T, XM_006713756.1:c.1073C>T, XM_011513189.4:c.1172C>T, XM_011513189.3:c.1172C>T, XM_011513189.2:c.1172C>T, XM_011513189.1:c.1172C>T, XM_005247793.4:c.1331C>T, XM_005247793.3:c.1331C>T, XM_005247793.2:c.1331C>T, XM_005247793.1:c.1331C>T, XM_006713753.3:c.1295C>T, XM_006713753.2:c.1295C>T, XM_006713753.1:c.1295C>T, XM_017007235.3:c.1319C>T, XM_017007235.2:c.1319C>T, XM_017007235.1:c.1319C>T, XM_017007237.3:c.1172C>T, XM_017007237.2:c.1172C>T, XM_017007237.1:c.1172C>T, XM_017007238.3:c.1073C>T, XM_017007238.2:c.1073C>T, XM_017007238.1:c.1073C>T, NM_001308116.2:c.1295C>T, NM_001308116.1:c.1295C>T, XM_047448982.1:c.1295C>T, XM_047448983.1:c.1319C>T, XM_047448984.1:c.1160C>T, XM_047448986.1:c.1160C>T, XM_047448987.1:c.1061C>T, XM_047448988.1:c.1061C>T, XM_047448989.1:c.1331C>T, XM_047448990.1:c.1160C>T, XM_047448991.1:c.1073C>T, XP_006713817.1:p.Pro432Leu, XP_005247848.1:p.Pro444Leu, XP_006713820.1:p.Pro444Leu, XP_005247846.1:p.Pro444Leu, NP_079223.3:p.Pro444Leu, XP_011511490.1:p.Pro391Leu, XP_006713819.1:p.Pro358Leu, XP_011511491.1:p.Pro391Leu, XP_005247850.1:p.Pro444Leu, XP_006713816.1:p.Pro432Leu, XP_016862724.1:p.Pro440Leu, XP_016862726.1:p.Pro391Leu, XP_016862727.1:p.Pro358Leu, NP_001295045.1:p.Pro432Leu, XP_047304938.1:p.Pro432Leu, XP_047304939.1:p.Pro440Leu, XP_047304940.1:p.Pro387Leu, XP_047304942.1:p.Pro387Leu, XP_047304943.1:p.Pro354Leu, XP_047304944.1:p.Pro354Leu, XP_047304945.1:p.Pro444Leu, XP_047304946.1:p.Pro387Leu, XP_047304947.1:p.Pro358Leu

                    10.

                    rs1468995680 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:170136444 (GRCh38)
                      3:169854232 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:170136443:T:C
                      Gene:
                      PHC3 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.170136444T>C, NC_000003.11:g.169854232T>C, XM_006713754.5:c.858A>G, XM_006713754.4:c.858A>G, XM_006713754.3:c.858A>G, XM_006713754.2:c.858A>G, XM_006713754.1:c.858A>G, XM_005247791.5:c.894A>G, XM_005247791.4:c.894A>G, XM_005247791.3:c.894A>G, XM_005247791.2:c.894A>G, XM_005247791.1:c.894A>G, XM_006713757.5:c.894A>G, XM_006713757.4:c.894A>G, XM_006713757.3:c.894A>G, XM_006713757.2:c.894A>G, XM_006713757.1:c.894A>G, XM_005247789.4:c.894A>G, XM_005247789.3:c.894A>G, XM_005247789.2:c.894A>G, XM_005247789.1:c.894A>G, NM_024947.4:c.894A>G, NM_024947.3:c.894A>G, XM_011513188.4:c.735A>G, XM_011513188.3:c.735A>G, XM_011513188.2:c.735A>G, XM_011513188.1:c.735A>G, XM_006713756.4:c.636A>G, XM_006713756.3:c.636A>G, XM_006713756.2:c.636A>G, XM_006713756.1:c.636A>G, XM_011513189.4:c.735A>G, XM_011513189.3:c.735A>G, XM_011513189.2:c.735A>G, XM_011513189.1:c.735A>G, XM_005247793.4:c.894A>G, XM_005247793.3:c.894A>G, XM_005247793.2:c.894A>G, XM_005247793.1:c.894A>G, XM_006713753.3:c.858A>G, XM_006713753.2:c.858A>G, XM_006713753.1:c.858A>G, XM_017007235.3:c.882A>G, XM_017007235.2:c.882A>G, XM_017007235.1:c.882A>G, XM_017007237.3:c.735A>G, XM_017007237.2:c.735A>G, XM_017007237.1:c.735A>G, XM_017007238.3:c.636A>G, XM_017007238.2:c.636A>G, XM_017007238.1:c.636A>G, NM_001308116.2:c.858A>G, NM_001308116.1:c.858A>G, XM_047448982.1:c.858A>G, XM_047448983.1:c.882A>G, XM_047448984.1:c.723A>G, XM_047448986.1:c.723A>G, XM_047448987.1:c.624A>G, XM_047448988.1:c.624A>G, XM_047448989.1:c.894A>G, XM_047448990.1:c.723A>G, XM_047448991.1:c.636A>G

                      11.

                      rs1464052681 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:170178774 (GRCh38)
                        3:169896562 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:170178773:T:C
                        Gene:
                        PHC3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.170178774T>C, NC_000003.11:g.169896562T>C, XM_006713754.5:c.143A>G, XM_006713754.4:c.143A>G, XM_006713754.3:c.143A>G, XM_006713754.2:c.143A>G, XM_006713754.1:c.143A>G, XM_005247791.5:c.179A>G, XM_005247791.4:c.179A>G, XM_005247791.3:c.179A>G, XM_005247791.2:c.179A>G, XM_005247791.1:c.179A>G, XM_006713757.5:c.179A>G, XM_006713757.4:c.179A>G, XM_006713757.3:c.179A>G, XM_006713757.2:c.179A>G, XM_006713757.1:c.179A>G, XM_005247789.4:c.179A>G, XM_005247789.3:c.179A>G, XM_005247789.2:c.179A>G, XM_005247789.1:c.179A>G, NM_024947.4:c.179A>G, NM_024947.3:c.179A>G, XM_011513188.4:c.179A>G, XM_011513188.3:c.179A>G, XM_011513188.2:c.179A>G, XM_011513188.1:c.179A>G, XM_006713756.4:c.179A>G, XM_006713756.3:c.179A>G, XM_006713756.2:c.179A>G, XM_006713756.1:c.179A>G, XM_011513189.4:c.179A>G, XM_011513189.3:c.179A>G, XM_011513189.2:c.179A>G, XM_011513189.1:c.179A>G, XM_005247793.4:c.179A>G, XM_005247793.3:c.179A>G, XM_005247793.2:c.179A>G, XM_005247793.1:c.179A>G, XM_006713753.3:c.143A>G, XM_006713753.2:c.143A>G, XM_006713753.1:c.143A>G, XM_017007235.3:c.179A>G, XM_017007235.2:c.179A>G, XM_017007235.1:c.179A>G, XM_017007237.3:c.179A>G, XM_017007237.2:c.179A>G, XM_017007237.1:c.179A>G, XM_017007238.3:c.179A>G, XM_017007238.2:c.179A>G, XM_017007238.1:c.179A>G, NM_001308116.2:c.143A>G, NM_001308116.1:c.143A>G, XM_047448982.1:c.143A>G, XM_047448983.1:c.179A>G, XM_047448984.1:c.179A>G, XM_047448986.1:c.179A>G, XM_047448987.1:c.179A>G, XM_047448988.1:c.179A>G, XM_047448989.1:c.179A>G, XM_047448990.1:c.179A>G, XM_047448991.1:c.179A>G, XP_006713817.1:p.Gln48Arg, XP_005247848.1:p.Gln60Arg, XP_006713820.1:p.Gln60Arg, XP_005247846.1:p.Gln60Arg, NP_079223.3:p.Gln60Arg, XP_011511490.1:p.Gln60Arg, XP_006713819.1:p.Gln60Arg, XP_011511491.1:p.Gln60Arg, XP_005247850.1:p.Gln60Arg, XP_006713816.1:p.Gln48Arg, XP_016862724.1:p.Gln60Arg, XP_016862726.1:p.Gln60Arg, XP_016862727.1:p.Gln60Arg, NP_001295045.1:p.Gln48Arg, XP_047304938.1:p.Gln48Arg, XP_047304939.1:p.Gln60Arg, XP_047304940.1:p.Gln60Arg, XP_047304942.1:p.Gln60Arg, XP_047304943.1:p.Gln60Arg, XP_047304944.1:p.Gln60Arg, XP_047304945.1:p.Gln60Arg, XP_047304946.1:p.Gln60Arg, XP_047304947.1:p.Gln60Arg

                        12.

                        rs1463166856 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:170129284 (GRCh38)
                          3:169847072 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:170129283:C:T
                          Gene:
                          PHC3 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.170129284C>T, NC_000003.11:g.169847072C>T, XM_006713754.5:c.1152G>A, XM_006713754.4:c.1152G>A, XM_006713754.3:c.1152G>A, XM_006713754.2:c.1152G>A, XM_006713754.1:c.1152G>A, XM_005247791.5:c.1188G>A, XM_005247791.4:c.1188G>A, XM_005247791.3:c.1188G>A, XM_005247791.2:c.1188G>A, XM_005247791.1:c.1188G>A, XM_006713757.5:c.1188G>A, XM_006713757.4:c.1188G>A, XM_006713757.3:c.1188G>A, XM_006713757.2:c.1188G>A, XM_006713757.1:c.1188G>A, XM_005247789.4:c.1188G>A, XM_005247789.3:c.1188G>A, XM_005247789.2:c.1188G>A, XM_005247789.1:c.1188G>A, NM_024947.4:c.1188G>A, NM_024947.3:c.1188G>A, XM_011513188.4:c.1029G>A, XM_011513188.3:c.1029G>A, XM_011513188.2:c.1029G>A, XM_011513188.1:c.1029G>A, XM_006713756.4:c.930G>A, XM_006713756.3:c.930G>A, XM_006713756.2:c.930G>A, XM_006713756.1:c.930G>A, XM_011513189.4:c.1029G>A, XM_011513189.3:c.1029G>A, XM_011513189.2:c.1029G>A, XM_011513189.1:c.1029G>A, XM_005247793.4:c.1188G>A, XM_005247793.3:c.1188G>A, XM_005247793.2:c.1188G>A, XM_005247793.1:c.1188G>A, XM_006713753.3:c.1152G>A, XM_006713753.2:c.1152G>A, XM_006713753.1:c.1152G>A, XM_017007235.3:c.1176G>A, XM_017007235.2:c.1176G>A, XM_017007235.1:c.1176G>A, XM_017007237.3:c.1029G>A, XM_017007237.2:c.1029G>A, XM_017007237.1:c.1029G>A, XM_017007238.3:c.930G>A, XM_017007238.2:c.930G>A, XM_017007238.1:c.930G>A, NM_001308116.2:c.1152G>A, NM_001308116.1:c.1152G>A, XM_047448982.1:c.1152G>A, XM_047448983.1:c.1176G>A, XM_047448984.1:c.1017G>A, XM_047448986.1:c.1017G>A, XM_047448987.1:c.918G>A, XM_047448988.1:c.918G>A, XM_047448989.1:c.1188G>A, XM_047448990.1:c.1017G>A, XM_047448991.1:c.930G>A

                          13.

                          rs1460049987 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            3:170149202 (GRCh38)
                            3:169866990 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:170149201:G:A
                            Gene:
                            PHC3 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000016/4 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.170149202G>A, NC_000003.11:g.169866990G>A, XM_006713754.5:c.421C>T, XM_006713754.4:c.421C>T, XM_006713754.3:c.421C>T, XM_006713754.2:c.421C>T, XM_006713754.1:c.421C>T, XM_005247791.5:c.457C>T, XM_005247791.4:c.457C>T, XM_005247791.3:c.457C>T, XM_005247791.2:c.457C>T, XM_005247791.1:c.457C>T, XM_006713757.5:c.457C>T, XM_006713757.4:c.457C>T, XM_006713757.3:c.457C>T, XM_006713757.2:c.457C>T, XM_006713757.1:c.457C>T, XM_005247789.4:c.457C>T, XM_005247789.3:c.457C>T, XM_005247789.2:c.457C>T, XM_005247789.1:c.457C>T, NM_024947.4:c.457C>T, NM_024947.3:c.457C>T, XM_005247793.4:c.457C>T, XM_005247793.3:c.457C>T, XM_005247793.2:c.457C>T, XM_005247793.1:c.457C>T, XM_006713753.3:c.421C>T, XM_006713753.2:c.421C>T, XM_006713753.1:c.421C>T, XM_017007235.3:c.445C>T, XM_017007235.2:c.445C>T, XM_017007235.1:c.445C>T, NM_001308116.2:c.421C>T, NM_001308116.1:c.421C>T, XM_047448982.1:c.421C>T, XM_047448983.1:c.445C>T, XM_047448989.1:c.457C>T, XP_006713817.1:p.Arg141Cys, XP_005247848.1:p.Arg153Cys, XP_006713820.1:p.Arg153Cys, XP_005247846.1:p.Arg153Cys, NP_079223.3:p.Arg153Cys, XP_005247850.1:p.Arg153Cys, XP_006713816.1:p.Arg141Cys, XP_016862724.1:p.Arg149Cys, NP_001295045.1:p.Arg141Cys, XP_047304938.1:p.Arg141Cys, XP_047304939.1:p.Arg149Cys, XP_047304945.1:p.Arg153Cys

                            14.

                            rs1457834375 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:170171386 (GRCh38)
                              3:169889174 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:170171385:A:G
                              Gene:
                              PHC3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.170171386A>G, NC_000003.11:g.169889174A>G, XM_006713754.5:c.365T>C, XM_006713754.4:c.365T>C, XM_006713754.3:c.365T>C, XM_006713754.2:c.365T>C, XM_006713754.1:c.365T>C, XM_005247791.5:c.401T>C, XM_005247791.4:c.401T>C, XM_005247791.3:c.401T>C, XM_005247791.2:c.401T>C, XM_005247791.1:c.401T>C, XM_006713757.5:c.401T>C, XM_006713757.4:c.401T>C, XM_006713757.3:c.401T>C, XM_006713757.2:c.401T>C, XM_006713757.1:c.401T>C, XM_005247789.4:c.401T>C, XM_005247789.3:c.401T>C, XM_005247789.2:c.401T>C, XM_005247789.1:c.401T>C, NM_024947.4:c.401T>C, NM_024947.3:c.401T>C, XM_011513188.4:c.401T>C, XM_011513188.3:c.401T>C, XM_011513188.2:c.401T>C, XM_011513188.1:c.401T>C, XM_006713756.4:c.401T>C, XM_006713756.3:c.401T>C, XM_006713756.2:c.401T>C, XM_006713756.1:c.401T>C, XM_011513189.4:c.401T>C, XM_011513189.3:c.401T>C, XM_011513189.2:c.401T>C, XM_011513189.1:c.401T>C, XM_005247793.4:c.401T>C, XM_005247793.3:c.401T>C, XM_005247793.2:c.401T>C, XM_005247793.1:c.401T>C, XM_006713753.3:c.365T>C, XM_006713753.2:c.365T>C, XM_006713753.1:c.365T>C, XM_017007235.3:c.389T>C, XM_017007235.2:c.389T>C, XM_017007235.1:c.389T>C, XM_017007237.3:c.401T>C, XM_017007237.2:c.401T>C, XM_017007237.1:c.401T>C, XM_017007238.3:c.401T>C, XM_017007238.2:c.401T>C, XM_017007238.1:c.401T>C, NM_001308116.2:c.365T>C, NM_001308116.1:c.365T>C, XM_047448982.1:c.365T>C, XM_047448983.1:c.389T>C, XM_047448984.1:c.389T>C, XM_047448986.1:c.389T>C, XM_047448987.1:c.389T>C, XM_047448988.1:c.389T>C, XM_047448989.1:c.401T>C, XM_047448990.1:c.389T>C, XM_047448991.1:c.401T>C, XP_006713817.1:p.Met122Thr, XP_005247848.1:p.Met134Thr, XP_006713820.1:p.Met134Thr, XP_005247846.1:p.Met134Thr, NP_079223.3:p.Met134Thr, XP_011511490.1:p.Met134Thr, XP_006713819.1:p.Met134Thr, XP_011511491.1:p.Met134Thr, XP_005247850.1:p.Met134Thr, XP_006713816.1:p.Met122Thr, XP_016862724.1:p.Met130Thr, XP_016862726.1:p.Met134Thr, XP_016862727.1:p.Met134Thr, NP_001295045.1:p.Met122Thr, XP_047304938.1:p.Met122Thr, XP_047304939.1:p.Met130Thr, XP_047304940.1:p.Met130Thr, XP_047304942.1:p.Met130Thr, XP_047304943.1:p.Met130Thr, XP_047304944.1:p.Met130Thr, XP_047304945.1:p.Met134Thr, XP_047304946.1:p.Met130Thr, XP_047304947.1:p.Met134Thr

                              15.

                              rs1456965659 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:170129079 (GRCh38)
                                3:169846867 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:170129078:G:A
                                Gene:
                                PHC3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.170129079G>A, NC_000003.11:g.169846867G>A, XM_006713754.5:c.1357C>T, XM_006713754.4:c.1357C>T, XM_006713754.3:c.1357C>T, XM_006713754.2:c.1357C>T, XM_006713754.1:c.1357C>T, XM_005247791.5:c.1393C>T, XM_005247791.4:c.1393C>T, XM_005247791.3:c.1393C>T, XM_005247791.2:c.1393C>T, XM_005247791.1:c.1393C>T, XM_006713757.5:c.1393C>T, XM_006713757.4:c.1393C>T, XM_006713757.3:c.1393C>T, XM_006713757.2:c.1393C>T, XM_006713757.1:c.1393C>T, XM_005247789.4:c.1393C>T, XM_005247789.3:c.1393C>T, XM_005247789.2:c.1393C>T, XM_005247789.1:c.1393C>T, NM_024947.4:c.1393C>T, NM_024947.3:c.1393C>T, XM_011513188.4:c.1234C>T, XM_011513188.3:c.1234C>T, XM_011513188.2:c.1234C>T, XM_011513188.1:c.1234C>T, XM_006713756.4:c.1135C>T, XM_006713756.3:c.1135C>T, XM_006713756.2:c.1135C>T, XM_006713756.1:c.1135C>T, XM_011513189.4:c.1234C>T, XM_011513189.3:c.1234C>T, XM_011513189.2:c.1234C>T, XM_011513189.1:c.1234C>T, XM_005247793.4:c.1393C>T, XM_005247793.3:c.1393C>T, XM_005247793.2:c.1393C>T, XM_005247793.1:c.1393C>T, XM_006713753.3:c.1357C>T, XM_006713753.2:c.1357C>T, XM_006713753.1:c.1357C>T, XM_017007235.3:c.1381C>T, XM_017007235.2:c.1381C>T, XM_017007235.1:c.1381C>T, XM_017007237.3:c.1234C>T, XM_017007237.2:c.1234C>T, XM_017007237.1:c.1234C>T, XM_017007238.3:c.1135C>T, XM_017007238.2:c.1135C>T, XM_017007238.1:c.1135C>T, NM_001308116.2:c.1357C>T, NM_001308116.1:c.1357C>T, XM_047448982.1:c.1357C>T, XM_047448983.1:c.1381C>T, XM_047448984.1:c.1222C>T, XM_047448986.1:c.1222C>T, XM_047448987.1:c.1123C>T, XM_047448988.1:c.1123C>T, XM_047448989.1:c.1393C>T, XM_047448990.1:c.1222C>T, XM_047448991.1:c.1135C>T, XP_006713817.1:p.Pro453Ser, XP_005247848.1:p.Pro465Ser, XP_006713820.1:p.Pro465Ser, XP_005247846.1:p.Pro465Ser, NP_079223.3:p.Pro465Ser, XP_011511490.1:p.Pro412Ser, XP_006713819.1:p.Pro379Ser, XP_011511491.1:p.Pro412Ser, XP_005247850.1:p.Pro465Ser, XP_006713816.1:p.Pro453Ser, XP_016862724.1:p.Pro461Ser, XP_016862726.1:p.Pro412Ser, XP_016862727.1:p.Pro379Ser, NP_001295045.1:p.Pro453Ser, XP_047304938.1:p.Pro453Ser, XP_047304939.1:p.Pro461Ser, XP_047304940.1:p.Pro408Ser, XP_047304942.1:p.Pro408Ser, XP_047304943.1:p.Pro375Ser, XP_047304944.1:p.Pro375Ser, XP_047304945.1:p.Pro465Ser, XP_047304946.1:p.Pro408Ser, XP_047304947.1:p.Pro379Ser

                                16.

                                rs1456155295 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:170136458 (GRCh38)
                                  3:169854246 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:170136457:C:T
                                  Gene:
                                  PHC3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.170136458C>T, NC_000003.11:g.169854246C>T, XM_006713754.5:c.844G>A, XM_006713754.4:c.844G>A, XM_006713754.3:c.844G>A, XM_006713754.2:c.844G>A, XM_006713754.1:c.844G>A, XM_005247791.5:c.880G>A, XM_005247791.4:c.880G>A, XM_005247791.3:c.880G>A, XM_005247791.2:c.880G>A, XM_005247791.1:c.880G>A, XM_006713757.5:c.880G>A, XM_006713757.4:c.880G>A, XM_006713757.3:c.880G>A, XM_006713757.2:c.880G>A, XM_006713757.1:c.880G>A, XM_005247789.4:c.880G>A, XM_005247789.3:c.880G>A, XM_005247789.2:c.880G>A, XM_005247789.1:c.880G>A, NM_024947.4:c.880G>A, NM_024947.3:c.880G>A, XM_011513188.4:c.721G>A, XM_011513188.3:c.721G>A, XM_011513188.2:c.721G>A, XM_011513188.1:c.721G>A, XM_006713756.4:c.622G>A, XM_006713756.3:c.622G>A, XM_006713756.2:c.622G>A, XM_006713756.1:c.622G>A, XM_011513189.4:c.721G>A, XM_011513189.3:c.721G>A, XM_011513189.2:c.721G>A, XM_011513189.1:c.721G>A, XM_005247793.4:c.880G>A, XM_005247793.3:c.880G>A, XM_005247793.2:c.880G>A, XM_005247793.1:c.880G>A, XM_006713753.3:c.844G>A, XM_006713753.2:c.844G>A, XM_006713753.1:c.844G>A, XM_017007235.3:c.868G>A, XM_017007235.2:c.868G>A, XM_017007235.1:c.868G>A, XM_017007237.3:c.721G>A, XM_017007237.2:c.721G>A, XM_017007237.1:c.721G>A, XM_017007238.3:c.622G>A, XM_017007238.2:c.622G>A, XM_017007238.1:c.622G>A, NM_001308116.2:c.844G>A, NM_001308116.1:c.844G>A, XM_047448982.1:c.844G>A, XM_047448983.1:c.868G>A, XM_047448984.1:c.709G>A, XM_047448986.1:c.709G>A, XM_047448987.1:c.610G>A, XM_047448988.1:c.610G>A, XM_047448989.1:c.880G>A, XM_047448990.1:c.709G>A, XM_047448991.1:c.622G>A, XP_006713817.1:p.Val282Ile, XP_005247848.1:p.Val294Ile, XP_006713820.1:p.Val294Ile, XP_005247846.1:p.Val294Ile, NP_079223.3:p.Val294Ile, XP_011511490.1:p.Val241Ile, XP_006713819.1:p.Val208Ile, XP_011511491.1:p.Val241Ile, XP_005247850.1:p.Val294Ile, XP_006713816.1:p.Val282Ile, XP_016862724.1:p.Val290Ile, XP_016862726.1:p.Val241Ile, XP_016862727.1:p.Val208Ile, NP_001295045.1:p.Val282Ile, XP_047304938.1:p.Val282Ile, XP_047304939.1:p.Val290Ile, XP_047304940.1:p.Val237Ile, XP_047304942.1:p.Val237Ile, XP_047304943.1:p.Val204Ile, XP_047304944.1:p.Val204Ile, XP_047304945.1:p.Val294Ile, XP_047304946.1:p.Val237Ile, XP_047304947.1:p.Val208Ile

                                  17.

                                  rs1453008906 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:170128695 (GRCh38)
                                    3:169846483 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:170128694:C:T
                                    Gene:
                                    PHC3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.170128695C>T, NC_000003.11:g.169846483C>T, XM_006713754.5:c.1741G>A, XM_006713754.4:c.1741G>A, XM_006713754.3:c.1741G>A, XM_006713754.2:c.1741G>A, XM_006713754.1:c.1741G>A, XM_005247791.5:c.1777G>A, XM_005247791.4:c.1777G>A, XM_005247791.3:c.1777G>A, XM_005247791.2:c.1777G>A, XM_005247791.1:c.1777G>A, XM_006713757.5:c.1777G>A, XM_006713757.4:c.1777G>A, XM_006713757.3:c.1777G>A, XM_006713757.2:c.1777G>A, XM_006713757.1:c.1777G>A, XM_005247789.4:c.1777G>A, XM_005247789.3:c.1777G>A, XM_005247789.2:c.1777G>A, XM_005247789.1:c.1777G>A, NM_024947.4:c.1777G>A, NM_024947.3:c.1777G>A, XM_011513188.4:c.1618G>A, XM_011513188.3:c.1618G>A, XM_011513188.2:c.1618G>A, XM_011513188.1:c.1618G>A, XM_006713756.4:c.1519G>A, XM_006713756.3:c.1519G>A, XM_006713756.2:c.1519G>A, XM_006713756.1:c.1519G>A, XM_011513189.4:c.1618G>A, XM_011513189.3:c.1618G>A, XM_011513189.2:c.1618G>A, XM_011513189.1:c.1618G>A, XM_005247793.4:c.1777G>A, XM_005247793.3:c.1777G>A, XM_005247793.2:c.1777G>A, XM_005247793.1:c.1777G>A, XM_006713753.3:c.1741G>A, XM_006713753.2:c.1741G>A, XM_006713753.1:c.1741G>A, XM_017007235.3:c.1765G>A, XM_017007235.2:c.1765G>A, XM_017007235.1:c.1765G>A, XM_017007237.3:c.1618G>A, XM_017007237.2:c.1618G>A, XM_017007237.1:c.1618G>A, XM_017007238.3:c.1519G>A, XM_017007238.2:c.1519G>A, XM_017007238.1:c.1519G>A, NM_001308116.2:c.1741G>A, NM_001308116.1:c.1741G>A, XM_047448982.1:c.1741G>A, XM_047448983.1:c.1765G>A, XM_047448984.1:c.1606G>A, XM_047448986.1:c.1606G>A, XM_047448987.1:c.1507G>A, XM_047448988.1:c.1507G>A, XM_047448989.1:c.1777G>A, XM_047448990.1:c.1606G>A, XM_047448991.1:c.1519G>A, XP_006713817.1:p.Asp581Asn, XP_005247848.1:p.Asp593Asn, XP_006713820.1:p.Asp593Asn, XP_005247846.1:p.Asp593Asn, NP_079223.3:p.Asp593Asn, XP_011511490.1:p.Asp540Asn, XP_006713819.1:p.Asp507Asn, XP_011511491.1:p.Asp540Asn, XP_005247850.1:p.Asp593Asn, XP_006713816.1:p.Asp581Asn, XP_016862724.1:p.Asp589Asn, XP_016862726.1:p.Asp540Asn, XP_016862727.1:p.Asp507Asn, NP_001295045.1:p.Asp581Asn, XP_047304938.1:p.Asp581Asn, XP_047304939.1:p.Asp589Asn, XP_047304940.1:p.Asp536Asn, XP_047304942.1:p.Asp536Asn, XP_047304943.1:p.Asp503Asn, XP_047304944.1:p.Asp503Asn, XP_047304945.1:p.Asp593Asn, XP_047304946.1:p.Asp536Asn, XP_047304947.1:p.Asp507Asn

                                    18.

                                    rs1452731785 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:170128890 (GRCh38)
                                      3:169846678 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:170128889:G:A
                                      Gene:
                                      PHC3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.170128890G>A, NC_000003.11:g.169846678G>A, XM_006713754.5:c.1546C>T, XM_006713754.4:c.1546C>T, XM_006713754.3:c.1546C>T, XM_006713754.2:c.1546C>T, XM_006713754.1:c.1546C>T, XM_005247791.5:c.1582C>T, XM_005247791.4:c.1582C>T, XM_005247791.3:c.1582C>T, XM_005247791.2:c.1582C>T, XM_005247791.1:c.1582C>T, XM_006713757.5:c.1582C>T, XM_006713757.4:c.1582C>T, XM_006713757.3:c.1582C>T, XM_006713757.2:c.1582C>T, XM_006713757.1:c.1582C>T, XM_005247789.4:c.1582C>T, XM_005247789.3:c.1582C>T, XM_005247789.2:c.1582C>T, XM_005247789.1:c.1582C>T, NM_024947.4:c.1582C>T, NM_024947.3:c.1582C>T, XM_011513188.4:c.1423C>T, XM_011513188.3:c.1423C>T, XM_011513188.2:c.1423C>T, XM_011513188.1:c.1423C>T, XM_006713756.4:c.1324C>T, XM_006713756.3:c.1324C>T, XM_006713756.2:c.1324C>T, XM_006713756.1:c.1324C>T, XM_011513189.4:c.1423C>T, XM_011513189.3:c.1423C>T, XM_011513189.2:c.1423C>T, XM_011513189.1:c.1423C>T, XM_005247793.4:c.1582C>T, XM_005247793.3:c.1582C>T, XM_005247793.2:c.1582C>T, XM_005247793.1:c.1582C>T, XM_006713753.3:c.1546C>T, XM_006713753.2:c.1546C>T, XM_006713753.1:c.1546C>T, XM_017007235.3:c.1570C>T, XM_017007235.2:c.1570C>T, XM_017007235.1:c.1570C>T, XM_017007237.3:c.1423C>T, XM_017007237.2:c.1423C>T, XM_017007237.1:c.1423C>T, XM_017007238.3:c.1324C>T, XM_017007238.2:c.1324C>T, XM_017007238.1:c.1324C>T, NM_001308116.2:c.1546C>T, NM_001308116.1:c.1546C>T, XM_047448982.1:c.1546C>T, XM_047448983.1:c.1570C>T, XM_047448984.1:c.1411C>T, XM_047448986.1:c.1411C>T, XM_047448987.1:c.1312C>T, XM_047448988.1:c.1312C>T, XM_047448989.1:c.1582C>T, XM_047448990.1:c.1411C>T, XM_047448991.1:c.1324C>T

                                      19.

                                      rs1452151152 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        3:170172687 (GRCh38)
                                        3:169890475 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:170172686:G:A,NC_000003.12:170172686:G:C
                                        Gene:
                                        PHC3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.170172687G>A, NC_000003.12:g.170172687G>C, NC_000003.11:g.169890475G>A, NC_000003.11:g.169890475G>C, XM_006713754.5:c.170C>T, XM_006713754.5:c.170C>G, XM_006713754.4:c.170C>T, XM_006713754.4:c.170C>G, XM_006713754.3:c.170C>T, XM_006713754.3:c.170C>G, XM_006713754.2:c.170C>T, XM_006713754.2:c.170C>G, XM_006713754.1:c.170C>T, XM_006713754.1:c.170C>G, XM_005247791.5:c.206C>T, XM_005247791.5:c.206C>G, XM_005247791.4:c.206C>T, XM_005247791.4:c.206C>G, XM_005247791.3:c.206C>T, XM_005247791.3:c.206C>G, XM_005247791.2:c.206C>T, XM_005247791.2:c.206C>G, XM_005247791.1:c.206C>T, XM_005247791.1:c.206C>G, XM_006713757.5:c.206C>T, XM_006713757.5:c.206C>G, XM_006713757.4:c.206C>T, XM_006713757.4:c.206C>G, XM_006713757.3:c.206C>T, XM_006713757.3:c.206C>G, XM_006713757.2:c.206C>T, XM_006713757.2:c.206C>G, XM_006713757.1:c.206C>T, XM_006713757.1:c.206C>G, XM_005247789.4:c.206C>T, XM_005247789.4:c.206C>G, XM_005247789.3:c.206C>T, XM_005247789.3:c.206C>G, XM_005247789.2:c.206C>T, XM_005247789.2:c.206C>G, XM_005247789.1:c.206C>T, XM_005247789.1:c.206C>G, NM_024947.4:c.206C>T, NM_024947.4:c.206C>G, NM_024947.3:c.206C>T, NM_024947.3:c.206C>G, XM_011513188.4:c.206C>T, XM_011513188.4:c.206C>G, XM_011513188.3:c.206C>T, XM_011513188.3:c.206C>G, XM_011513188.2:c.206C>T, XM_011513188.2:c.206C>G, XM_011513188.1:c.206C>T, XM_011513188.1:c.206C>G, XM_006713756.4:c.206C>T, XM_006713756.4:c.206C>G, XM_006713756.3:c.206C>T, XM_006713756.3:c.206C>G, XM_006713756.2:c.206C>T, XM_006713756.2:c.206C>G, XM_006713756.1:c.206C>T, XM_006713756.1:c.206C>G, XM_011513189.4:c.206C>T, XM_011513189.4:c.206C>G, XM_011513189.3:c.206C>T, XM_011513189.3:c.206C>G, XM_011513189.2:c.206C>T, XM_011513189.2:c.206C>G, XM_011513189.1:c.206C>T, XM_011513189.1:c.206C>G, XM_005247793.4:c.206C>T, XM_005247793.4:c.206C>G, XM_005247793.3:c.206C>T, XM_005247793.3:c.206C>G, XM_005247793.2:c.206C>T, XM_005247793.2:c.206C>G, XM_005247793.1:c.206C>T, XM_005247793.1:c.206C>G, XM_006713753.3:c.170C>T, XM_006713753.3:c.170C>G, XM_006713753.2:c.170C>T, XM_006713753.2:c.170C>G, XM_006713753.1:c.170C>T, XM_006713753.1:c.170C>G, XM_017007235.3:c.194C>T, XM_017007235.3:c.194C>G, XM_017007235.2:c.194C>T, XM_017007235.2:c.194C>G, XM_017007235.1:c.194C>T, XM_017007235.1:c.194C>G, XM_017007237.3:c.206C>T, XM_017007237.3:c.206C>G, XM_017007237.2:c.206C>T, XM_017007237.2:c.206C>G, XM_017007237.1:c.206C>T, XM_017007237.1:c.206C>G, XM_017007238.3:c.206C>T, XM_017007238.3:c.206C>G, XM_017007238.2:c.206C>T, XM_017007238.2:c.206C>G, XM_017007238.1:c.206C>T, XM_017007238.1:c.206C>G, NM_001308116.2:c.170C>T, NM_001308116.2:c.170C>G, NM_001308116.1:c.170C>T, NM_001308116.1:c.170C>G, XM_047448982.1:c.170C>T, XM_047448982.1:c.170C>G, XM_047448983.1:c.194C>T, XM_047448983.1:c.194C>G, XM_047448984.1:c.194C>T, XM_047448984.1:c.194C>G, XM_047448986.1:c.194C>T, XM_047448986.1:c.194C>G, XM_047448987.1:c.194C>T, XM_047448987.1:c.194C>G, XM_047448988.1:c.194C>T, XM_047448988.1:c.194C>G, XM_047448989.1:c.206C>T, XM_047448989.1:c.206C>G, XM_047448990.1:c.194C>T, XM_047448990.1:c.194C>G, XM_047448991.1:c.206C>T, XM_047448991.1:c.206C>G, XP_006713817.1:p.Pro57Leu, XP_006713817.1:p.Pro57Arg, XP_005247848.1:p.Pro69Leu, XP_005247848.1:p.Pro69Arg, XP_006713820.1:p.Pro69Leu, XP_006713820.1:p.Pro69Arg, XP_005247846.1:p.Pro69Leu, XP_005247846.1:p.Pro69Arg, NP_079223.3:p.Pro69Leu, NP_079223.3:p.Pro69Arg, XP_011511490.1:p.Pro69Leu, XP_011511490.1:p.Pro69Arg, XP_006713819.1:p.Pro69Leu, XP_006713819.1:p.Pro69Arg, XP_011511491.1:p.Pro69Leu, XP_011511491.1:p.Pro69Arg, XP_005247850.1:p.Pro69Leu, XP_005247850.1:p.Pro69Arg, XP_006713816.1:p.Pro57Leu, XP_006713816.1:p.Pro57Arg, XP_016862724.1:p.Pro65Leu, XP_016862724.1:p.Pro65Arg, XP_016862726.1:p.Pro69Leu, XP_016862726.1:p.Pro69Arg, XP_016862727.1:p.Pro69Leu, XP_016862727.1:p.Pro69Arg, NP_001295045.1:p.Pro57Leu, NP_001295045.1:p.Pro57Arg, XP_047304938.1:p.Pro57Leu, XP_047304938.1:p.Pro57Arg, XP_047304939.1:p.Pro65Leu, XP_047304939.1:p.Pro65Arg, XP_047304940.1:p.Pro65Leu, XP_047304940.1:p.Pro65Arg, XP_047304942.1:p.Pro65Leu, XP_047304942.1:p.Pro65Arg, XP_047304943.1:p.Pro65Leu, XP_047304943.1:p.Pro65Arg, XP_047304944.1:p.Pro65Leu, XP_047304944.1:p.Pro65Arg, XP_047304945.1:p.Pro69Leu, XP_047304945.1:p.Pro69Arg, XP_047304946.1:p.Pro65Leu, XP_047304946.1:p.Pro65Arg, XP_047304947.1:p.Pro69Leu, XP_047304947.1:p.Pro69Arg

                                        20.

                                        rs1450153524 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          3:170128900 (GRCh38)
                                          3:169846688 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:170128899:C:G
                                          Gene:
                                          PHC3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.170128900C>G, NC_000003.11:g.169846688C>G, XM_006713754.5:c.1536G>C, XM_006713754.4:c.1536G>C, XM_006713754.3:c.1536G>C, XM_006713754.2:c.1536G>C, XM_006713754.1:c.1536G>C, XM_005247791.5:c.1572G>C, XM_005247791.4:c.1572G>C, XM_005247791.3:c.1572G>C, XM_005247791.2:c.1572G>C, XM_005247791.1:c.1572G>C, XM_006713757.5:c.1572G>C, XM_006713757.4:c.1572G>C, XM_006713757.3:c.1572G>C, XM_006713757.2:c.1572G>C, XM_006713757.1:c.1572G>C, XM_005247789.4:c.1572G>C, XM_005247789.3:c.1572G>C, XM_005247789.2:c.1572G>C, XM_005247789.1:c.1572G>C, NM_024947.4:c.1572G>C, NM_024947.3:c.1572G>C, XM_011513188.4:c.1413G>C, XM_011513188.3:c.1413G>C, XM_011513188.2:c.1413G>C, XM_011513188.1:c.1413G>C, XM_006713756.4:c.1314G>C, XM_006713756.3:c.1314G>C, XM_006713756.2:c.1314G>C, XM_006713756.1:c.1314G>C, XM_011513189.4:c.1413G>C, XM_011513189.3:c.1413G>C, XM_011513189.2:c.1413G>C, XM_011513189.1:c.1413G>C, XM_005247793.4:c.1572G>C, XM_005247793.3:c.1572G>C, XM_005247793.2:c.1572G>C, XM_005247793.1:c.1572G>C, XM_006713753.3:c.1536G>C, XM_006713753.2:c.1536G>C, XM_006713753.1:c.1536G>C, XM_017007235.3:c.1560G>C, XM_017007235.2:c.1560G>C, XM_017007235.1:c.1560G>C, XM_017007237.3:c.1413G>C, XM_017007237.2:c.1413G>C, XM_017007237.1:c.1413G>C, XM_017007238.3:c.1314G>C, XM_017007238.2:c.1314G>C, XM_017007238.1:c.1314G>C, NM_001308116.2:c.1536G>C, NM_001308116.1:c.1536G>C, XM_047448982.1:c.1536G>C, XM_047448983.1:c.1560G>C, XM_047448984.1:c.1401G>C, XM_047448986.1:c.1401G>C, XM_047448987.1:c.1302G>C, XM_047448988.1:c.1302G>C, XM_047448989.1:c.1572G>C, XM_047448990.1:c.1401G>C, XM_047448991.1:c.1314G>C, XP_006713817.1:p.Gln512His, XP_005247848.1:p.Gln524His, XP_006713820.1:p.Gln524His, XP_005247846.1:p.Gln524His, NP_079223.3:p.Gln524His, XP_011511490.1:p.Gln471His, XP_006713819.1:p.Gln438His, XP_011511491.1:p.Gln471His, XP_005247850.1:p.Gln524His, XP_006713816.1:p.Gln512His, XP_016862724.1:p.Gln520His, XP_016862726.1:p.Gln471His, XP_016862727.1:p.Gln438His, NP_001295045.1:p.Gln512His, XP_047304938.1:p.Gln512His, XP_047304939.1:p.Gln520His, XP_047304940.1:p.Gln467His, XP_047304942.1:p.Gln467His, XP_047304943.1:p.Gln434His, XP_047304944.1:p.Gln434His, XP_047304945.1:p.Gln524His, XP_047304946.1:p.Gln467His, XP_047304947.1:p.Gln438His

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