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Items: 1 to 20 of 1000

1.

rs1490703183 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:7894952 (GRCh38)
    17:7798270 (GRCh37)
    Canonical SPDI:
    NC_000017.11:7894951:A:G
    Gene:
    CHD3 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    HGVS:
    NC_000017.11:g.7894952A>G, NC_000017.10:g.7798270A>G, XM_005256427.5:c.1482A>G, XM_005256427.4:c.1482A>G, XM_005256427.3:c.1482A>G, XM_005256427.2:c.1482A>G, XM_005256427.1:c.1482A>G, XM_005256429.5:c.1482A>G, XM_005256429.4:c.1482A>G, XM_005256429.3:c.1482A>G, XM_005256429.2:c.1482A>G, XM_005256429.1:c.1482A>G, XM_005256428.5:c.1482A>G, XM_005256428.4:c.1482A>G, XM_005256428.3:c.1482A>G, XM_005256428.2:c.1482A>G, XM_005256428.1:c.1482A>G, XM_005256431.5:c.1482A>G, XM_005256431.4:c.1482A>G, XM_005256431.3:c.1482A>G, XM_005256431.2:c.1482A>G, XM_005256431.1:c.1482A>G, XM_006721423.4:c.1482A>G, XM_006721423.3:c.1482A>G, XM_006721423.2:c.1482A>G, XM_006721423.1:c.1482A>G, XM_006721424.4:c.1470A>G, XM_006721424.3:c.1470A>G, XM_006721424.2:c.1470A>G, XM_006721424.1:c.1470A>G, NM_005852.4:c.1305A>G, NM_005852.3:c.1305A>G, XM_006721428.4:c.1482A>G, XM_006721428.3:c.1482A>G, XM_006721428.2:c.1482A>G, XM_006721428.1:c.1482A>G, XM_017024067.3:c.1272A>G, XM_017024067.2:c.1272A>G, XM_017024067.1:c.1272A>G, NM_001005273.3:c.1305A>G, NM_001005273.2:c.1305A>G, NM_001005271.3:c.1482A>G, NM_001005271.2:c.1482A>G, XM_017024066.2:c.1275A>G, XM_017024066.1:c.1245A>G, XM_017024063.2:c.1305A>G, XM_017024063.1:c.1305A>G, XM_017024068.2:c.1245A>G, XM_017024068.1:c.1245A>G, XM_017024064.2:c.1470A>G, XM_017024064.1:c.1470A>G, XM_017024069.2:c.801A>G, XM_017024069.1:c.801A>G, XM_017024065.2:c.1482A>G, XM_017024065.1:c.1482A>G, XM_047435193.1:c.1305A>G, XM_047435194.1:c.1293A>G, XM_047435195.1:c.1293A>G, XM_047435190.1:c.1470A>G, XM_047435203.1:c.1293A>G, XM_047435205.1:c.1293A>G, XM_047435211.1:c.1233A>G, XM_047435192.1:c.1470A>G, XM_047435197.1:c.1272A>G, XM_047435199.1:c.1245A>G, XM_047435200.1:c.1233A>G, XM_047435201.1:c.1233A>G, XM_047435204.1:c.1233A>G, XM_047435210.1:c.1233A>G, XM_047435191.1:c.1470A>G, XM_047435209.1:c.1245A>G, XM_047435212.1:c.1293A>G, XM_047435216.1:c.801A>G, XM_047435202.1:c.1470A>G, XM_047435196.1:c.1482A>G, XM_047435198.1:c.1470A>G, XM_047435215.1:c.1233A>G, XM_047435206.1:c.1482A>G, XM_047435207.1:c.1482A>G, XM_047435208.1:c.1470A>G, XM_047435213.1:c.1482A>G, XM_047435214.1:c.1470A>G

    2.

    rs1490524250 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:7895520 (GRCh38)
      17:7798838 (GRCh37)
      Canonical SPDI:
      NC_000017.11:7895519:G:A
      Gene:
      CHD3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      HGVS:
      NC_000017.11:g.7895520G>A, NC_000017.10:g.7798838G>A, XM_005256427.5:c.1862G>A, XM_005256427.4:c.1862G>A, XM_005256427.3:c.1862G>A, XM_005256427.2:c.1862G>A, XM_005256427.1:c.1862G>A, XM_005256429.5:c.1862G>A, XM_005256429.4:c.1862G>A, XM_005256429.3:c.1862G>A, XM_005256429.2:c.1862G>A, XM_005256429.1:c.1862G>A, XM_005256428.5:c.1862G>A, XM_005256428.4:c.1862G>A, XM_005256428.3:c.1862G>A, XM_005256428.2:c.1862G>A, XM_005256428.1:c.1862G>A, XM_005256431.5:c.1862G>A, XM_005256431.4:c.1862G>A, XM_005256431.3:c.1862G>A, XM_005256431.2:c.1862G>A, XM_005256431.1:c.1862G>A, XM_006721423.4:c.1862G>A, XM_006721423.3:c.1862G>A, XM_006721423.2:c.1862G>A, XM_006721423.1:c.1862G>A, XM_006721424.4:c.1850G>A, XM_006721424.3:c.1850G>A, XM_006721424.2:c.1850G>A, XM_006721424.1:c.1850G>A, NM_005852.4:c.1685G>A, NM_005852.3:c.1685G>A, XM_006721428.4:c.1862G>A, XM_006721428.3:c.1862G>A, XM_006721428.2:c.1862G>A, XM_006721428.1:c.1862G>A, XM_017024067.3:c.1652G>A, XM_017024067.2:c.1652G>A, XM_017024067.1:c.1652G>A, NM_001005273.3:c.1685G>A, NM_001005273.2:c.1685G>A, NM_001005271.3:c.1862G>A, NM_001005271.2:c.1862G>A, XM_017024066.2:c.1655G>A, XM_017024066.1:c.1625G>A, XM_017024063.2:c.1685G>A, XM_017024063.1:c.1685G>A, XM_017024068.2:c.1625G>A, XM_017024068.1:c.1625G>A, XM_017024064.2:c.1850G>A, XM_017024064.1:c.1850G>A, XM_017024069.2:c.1181G>A, XM_017024069.1:c.1181G>A, XM_047435193.1:c.1685G>A, XM_047435194.1:c.1673G>A, XM_047435195.1:c.1673G>A, XM_047435190.1:c.1850G>A, XM_047435203.1:c.1673G>A, XM_047435205.1:c.1673G>A, XM_047435211.1:c.1613G>A, XM_047435192.1:c.1850G>A, XM_047435197.1:c.1652G>A, XM_047435199.1:c.1625G>A, XM_047435200.1:c.1613G>A, XM_047435201.1:c.1613G>A, XM_047435204.1:c.1613G>A, XM_047435210.1:c.1613G>A, XM_047435191.1:c.1850G>A, XM_047435209.1:c.1625G>A, XM_047435212.1:c.1673G>A, XM_047435216.1:c.1181G>A, XM_047435202.1:c.1850G>A, XM_047435215.1:c.1613G>A, XP_005256484.1:p.Cys621Tyr, XP_005256486.1:p.Cys621Tyr, XP_005256485.1:p.Cys621Tyr, XP_005256488.1:p.Cys621Tyr, XP_006721486.1:p.Cys621Tyr, XP_006721487.1:p.Cys617Tyr, NP_005843.2:p.Cys562Tyr, XP_006721491.1:p.Cys621Tyr, XP_016879556.1:p.Cys551Tyr, NP_001005273.1:p.Cys562Tyr, NP_001005271.2:p.Cys621Tyr, XP_016879555.2:p.Cys552Tyr, XP_016879552.1:p.Cys562Tyr, XP_016879557.1:p.Cys542Tyr, XP_016879553.1:p.Cys617Tyr, XP_016879558.1:p.Cys394Tyr, XP_047291149.1:p.Cys562Tyr, XP_047291150.1:p.Cys558Tyr, XP_047291151.1:p.Cys558Tyr, XP_047291146.1:p.Cys617Tyr, XP_047291159.1:p.Cys558Tyr, XP_047291161.1:p.Cys558Tyr, XP_047291167.1:p.Cys538Tyr, XP_047291148.1:p.Cys617Tyr, XP_047291153.1:p.Cys551Tyr, XP_047291155.1:p.Cys542Tyr, XP_047291156.1:p.Cys538Tyr, XP_047291157.1:p.Cys538Tyr, XP_047291160.1:p.Cys538Tyr, XP_047291166.1:p.Cys538Tyr, XP_047291147.1:p.Cys617Tyr, XP_047291165.1:p.Cys542Tyr, XP_047291168.1:p.Cys558Tyr, XP_047291172.1:p.Cys394Tyr, XP_047291158.1:p.Cys617Tyr, XP_047291171.1:p.Cys538Tyr

      3.

      rs1490428405 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:7907623 (GRCh38)
        17:7810941 (GRCh37)
        Canonical SPDI:
        NC_000017.11:7907622:A:G
        Gene:
        CHD3 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000017.11:g.7907623A>G, NC_000017.10:g.7810941A>G, XM_005256427.5:c.5124A>G, XM_005256427.4:c.5124A>G, XM_005256427.3:c.5124A>G, XM_005256427.2:c.5124A>G, XM_005256427.1:c.5124A>G, XM_005256429.5:c.5124A>G, XM_005256429.4:c.5124A>G, XM_005256429.3:c.5124A>G, XM_005256429.2:c.5124A>G, XM_005256429.1:c.5124A>G, XM_006721423.4:c.5124A>G, XM_006721423.3:c.5124A>G, XM_006721423.2:c.5124A>G, XM_006721423.1:c.5124A>G, XM_006721424.4:c.5112A>G, XM_006721424.3:c.5112A>G, XM_006721424.2:c.5112A>G, XM_006721424.1:c.5112A>G, XM_017024067.3:c.4914A>G, XM_017024067.2:c.4914A>G, XM_017024067.1:c.4914A>G, NM_001005273.3:c.4947A>G, NM_001005273.2:c.4947A>G, NM_001005271.3:c.5124A>G, NM_001005271.2:c.5124A>G, XM_017024066.2:c.4917A>G, XM_017024066.1:c.4887A>G, XM_017024063.2:c.4947A>G, XM_017024063.1:c.4947A>G, XM_017024068.2:c.4887A>G, XM_017024068.1:c.4887A>G, XM_017024064.2:c.5112A>G, XM_017024064.1:c.5112A>G, XM_017024069.2:c.4443A>G, XM_017024069.1:c.4443A>G, XM_017024065.2:c.4920A>G, XM_017024065.1:c.4920A>G, XM_047435193.1:c.4947A>G, XM_047435194.1:c.4935A>G, XM_047435195.1:c.4935A>G, XM_047435190.1:c.5112A>G, XM_047435203.1:c.4935A>G, XM_047435205.1:c.4935A>G, XM_047435211.1:c.4875A>G, XM_047435192.1:c.5112A>G, XM_047435197.1:c.4914A>G, XM_047435199.1:c.4887A>G, XM_047435200.1:c.4875A>G, XM_047435201.1:c.4875A>G, XM_047435210.1:c.4875A>G, XM_047435209.1:c.4887A>G, XM_047435216.1:c.4443A>G, XM_047435196.1:c.4920A>G, XM_047435198.1:c.4908A>G, XM_047435206.1:c.4920A>G, XM_047435207.1:c.4920A>G, XM_047435208.1:c.4908A>G

        4.

        rs1489817011 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:7908796 (GRCh38)
          17:7812114 (GRCh37)
          Canonical SPDI:
          NC_000017.11:7908795:G:A
          Gene:
          CHD3 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000017.11:g.7908796G>A, NC_000017.10:g.7812114G>A, XM_005256427.5:c.5541G>A, XM_005256427.4:c.5541G>A, XM_005256427.3:c.5541G>A, XM_005256427.2:c.5541G>A, XM_005256427.1:c.5541G>A, XM_005256429.5:c.5541G>A, XM_005256429.4:c.5541G>A, XM_005256429.3:c.5541G>A, XM_005256429.2:c.5541G>A, XM_005256429.1:c.5541G>A, XM_005256428.5:c.5436G>A, XM_005256428.4:c.5436G>A, XM_005256428.3:c.5436G>A, XM_005256428.2:c.5436G>A, XM_005256428.1:c.5436G>A, XM_006721423.4:c.5538G>A, XM_006721423.3:c.5538G>A, XM_006721423.2:c.5538G>A, XM_006721423.1:c.5538G>A, XM_006721424.4:c.5529G>A, XM_006721424.3:c.5529G>A, XM_006721424.2:c.5529G>A, XM_006721424.1:c.5529G>A, NM_005852.4:c.5259G>A, NM_005852.3:c.5259G>A, XM_006721428.4:c.5436G>A, XM_006721428.3:c.5436G>A, XM_006721428.2:c.5436G>A, XM_006721428.1:c.5436G>A, XM_017024067.3:c.5331G>A, XM_017024067.2:c.5331G>A, XM_017024067.1:c.5331G>A, NM_001005273.3:c.5361G>A, NM_001005273.2:c.5361G>A, NM_001005271.3:c.5538G>A, NM_001005271.2:c.5538G>A, XM_017024066.2:c.5334G>A, XM_017024066.1:c.5304G>A, XM_017024063.2:c.5364G>A, XM_017024063.1:c.5364G>A, XM_017024068.2:c.5304G>A, XM_017024068.1:c.5304G>A, XM_017024064.2:c.5526G>A, XM_017024064.1:c.5526G>A, XM_017024069.2:c.4860G>A, XM_017024069.1:c.4860G>A, XM_017024065.2:c.5337G>A, XM_017024065.1:c.5337G>A, XM_047435193.1:c.5361G>A, XM_047435194.1:c.5352G>A, XM_047435195.1:c.5349G>A, XM_047435190.1:c.5526G>A, XM_047435203.1:c.5352G>A, XM_047435205.1:c.5349G>A, XM_047435211.1:c.5289G>A, XM_047435192.1:c.5529G>A, XM_047435197.1:c.5331G>A, XM_047435199.1:c.5304G>A, XM_047435200.1:c.5292G>A, XM_047435201.1:c.5289G>A, XM_047435204.1:c.5187G>A, XM_047435210.1:c.5292G>A, XM_047435191.1:c.5424G>A, XM_047435209.1:c.5301G>A, XM_047435212.1:c.5247G>A, XM_047435216.1:c.4860G>A, XM_047435202.1:c.5424G>A, XM_047435196.1:c.5334G>A, XM_047435198.1:c.5322G>A, XM_047435215.1:c.5187G>A, XM_047435206.1:c.5337G>A, XM_047435207.1:c.5334G>A, XM_047435208.1:c.5322G>A, XM_047435213.1:c.5232G>A, XM_047435214.1:c.5220G>A

          5.

          rs1489784633 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:7889693 (GRCh38)
            17:7793011 (GRCh37)
            Canonical SPDI:
            NC_000017.11:7889692:G:A
            Gene:
            CHD3 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            NC_000017.11:g.7889693G>A, NC_000017.10:g.7793011G>A, XM_005256427.5:c.307G>A, XM_005256427.4:c.307G>A, XM_005256427.3:c.307G>A, XM_005256427.2:c.307G>A, XM_005256427.1:c.307G>A, XM_005256429.5:c.307G>A, XM_005256429.4:c.307G>A, XM_005256429.3:c.307G>A, XM_005256429.2:c.307G>A, XM_005256429.1:c.307G>A, XM_005256428.5:c.307G>A, XM_005256428.4:c.307G>A, XM_005256428.3:c.307G>A, XM_005256428.2:c.307G>A, XM_005256428.1:c.307G>A, XM_005256431.5:c.307G>A, XM_005256431.4:c.307G>A, XM_005256431.3:c.307G>A, XM_005256431.2:c.307G>A, XM_005256431.1:c.307G>A, XM_006721423.4:c.307G>A, XM_006721423.3:c.307G>A, XM_006721423.2:c.307G>A, XM_006721423.1:c.307G>A, XM_006721424.4:c.307G>A, XM_006721424.3:c.307G>A, XM_006721424.2:c.307G>A, XM_006721424.1:c.307G>A, NM_005852.4:c.130G>A, NM_005852.3:c.130G>A, XM_006721428.4:c.307G>A, XM_006721428.3:c.307G>A, XM_006721428.2:c.307G>A, XM_006721428.1:c.307G>A, XM_017024067.3:c.97G>A, XM_017024067.2:c.97G>A, XM_017024067.1:c.97G>A, NM_001005273.3:c.130G>A, NM_001005273.2:c.130G>A, NM_001005271.3:c.307G>A, NM_001005271.2:c.307G>A, XM_017024066.2:c.100G>A, XM_017024066.1:c.70G>A, XM_017024063.2:c.130G>A, XM_017024063.1:c.130G>A, XM_017024068.2:c.70G>A, XM_017024068.1:c.70G>A, XM_017024064.2:c.307G>A, XM_017024064.1:c.307G>A, XM_017024069.2:c.-375G>A, XM_017024069.1:c.-375G>A, XM_017024065.2:c.307G>A, XM_017024065.1:c.307G>A, XM_047435193.1:c.130G>A, XM_047435194.1:c.130G>A, XM_047435195.1:c.130G>A, XM_047435190.1:c.307G>A, XM_047435203.1:c.130G>A, XM_047435205.1:c.130G>A, XM_047435211.1:c.70G>A, XM_047435192.1:c.307G>A, XM_047435197.1:c.97G>A, XM_047435199.1:c.70G>A, XM_047435200.1:c.70G>A, XM_047435201.1:c.70G>A, XM_047435204.1:c.70G>A, XM_047435210.1:c.70G>A, XM_047435191.1:c.307G>A, XM_047435209.1:c.70G>A, XM_047435212.1:c.130G>A, XM_047435216.1:c.-375G>A, XM_047435202.1:c.307G>A, XM_047435196.1:c.307G>A, XM_047435198.1:c.307G>A, XM_047435215.1:c.70G>A, XM_047435206.1:c.307G>A, XM_047435207.1:c.307G>A, XM_047435208.1:c.307G>A, XM_047435213.1:c.307G>A, XM_047435214.1:c.307G>A, XP_005256484.1:p.Ala103Thr, XP_005256486.1:p.Ala103Thr, XP_005256485.1:p.Ala103Thr, XP_005256488.1:p.Ala103Thr, XP_006721486.1:p.Ala103Thr, XP_006721487.1:p.Ala103Thr, NP_005843.2:p.Ala44Thr, XP_006721491.1:p.Ala103Thr, XP_016879556.1:p.Ala33Thr, NP_001005273.1:p.Ala44Thr, NP_001005271.2:p.Ala103Thr, XP_016879555.2:p.Ala34Thr, XP_016879552.1:p.Ala44Thr, XP_016879557.1:p.Ala24Thr, XP_016879553.1:p.Ala103Thr, XP_016879554.1:p.Ala103Thr, XP_047291149.1:p.Ala44Thr, XP_047291150.1:p.Ala44Thr, XP_047291151.1:p.Ala44Thr, XP_047291146.1:p.Ala103Thr, XP_047291159.1:p.Ala44Thr, XP_047291161.1:p.Ala44Thr, XP_047291167.1:p.Ala24Thr, XP_047291148.1:p.Ala103Thr, XP_047291153.1:p.Ala33Thr, XP_047291155.1:p.Ala24Thr, XP_047291156.1:p.Ala24Thr, XP_047291157.1:p.Ala24Thr, XP_047291160.1:p.Ala24Thr, XP_047291166.1:p.Ala24Thr, XP_047291147.1:p.Ala103Thr, XP_047291165.1:p.Ala24Thr, XP_047291168.1:p.Ala44Thr, XP_047291158.1:p.Ala103Thr, XP_047291152.1:p.Ala103Thr, XP_047291154.1:p.Ala103Thr, XP_047291171.1:p.Ala24Thr, XP_047291162.1:p.Ala103Thr, XP_047291163.1:p.Ala103Thr, XP_047291164.1:p.Ala103Thr, XP_047291169.1:p.Ala103Thr, XP_047291170.1:p.Ala103Thr

            6.

            rs1489612297 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:7899414 (GRCh38)
              17:7802732 (GRCh37)
              Canonical SPDI:
              NC_000017.11:7899413:G:A
              Gene:
              CHD3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000017.11:g.7899414G>A, NC_000017.10:g.7802732G>A, XM_005256427.5:c.2592G>A, XM_005256427.4:c.2592G>A, XM_005256427.3:c.2592G>A, XM_005256427.2:c.2592G>A, XM_005256427.1:c.2592G>A, XM_005256429.5:c.2592G>A, XM_005256429.4:c.2592G>A, XM_005256429.3:c.2592G>A, XM_005256429.2:c.2592G>A, XM_005256429.1:c.2592G>A, XM_005256428.5:c.2592G>A, XM_005256428.4:c.2592G>A, XM_005256428.3:c.2592G>A, XM_005256428.2:c.2592G>A, XM_005256428.1:c.2592G>A, XM_005256431.5:c.2592G>A, XM_005256431.4:c.2592G>A, XM_005256431.3:c.2592G>A, XM_005256431.2:c.2592G>A, XM_005256431.1:c.2592G>A, XM_006721423.4:c.2592G>A, XM_006721423.3:c.2592G>A, XM_006721423.2:c.2592G>A, XM_006721423.1:c.2592G>A, XM_006721424.4:c.2580G>A, XM_006721424.3:c.2580G>A, XM_006721424.2:c.2580G>A, XM_006721424.1:c.2580G>A, NM_005852.4:c.2415G>A, NM_005852.3:c.2415G>A, XM_006721428.4:c.2592G>A, XM_006721428.3:c.2592G>A, XM_006721428.2:c.2592G>A, XM_006721428.1:c.2592G>A, XM_017024067.3:c.2382G>A, XM_017024067.2:c.2382G>A, XM_017024067.1:c.2382G>A, NM_001005273.3:c.2415G>A, NM_001005273.2:c.2415G>A, NM_001005271.3:c.2592G>A, NM_001005271.2:c.2592G>A, XM_017024066.2:c.2385G>A, XM_017024066.1:c.2355G>A, XM_017024063.2:c.2415G>A, XM_017024063.1:c.2415G>A, XM_017024068.2:c.2355G>A, XM_017024068.1:c.2355G>A, XM_017024064.2:c.2580G>A, XM_017024064.1:c.2580G>A, XM_017024069.2:c.1911G>A, XM_017024069.1:c.1911G>A, XM_017024065.2:c.2388G>A, XM_017024065.1:c.2388G>A, XM_047435193.1:c.2415G>A, XM_047435194.1:c.2403G>A, XM_047435195.1:c.2403G>A, XM_047435190.1:c.2580G>A, XM_047435203.1:c.2403G>A, XM_047435205.1:c.2403G>A, XM_047435211.1:c.2343G>A, XM_047435192.1:c.2580G>A, XM_047435197.1:c.2382G>A, XM_047435199.1:c.2355G>A, XM_047435200.1:c.2343G>A, XM_047435201.1:c.2343G>A, XM_047435204.1:c.2343G>A, XM_047435210.1:c.2343G>A, XM_047435191.1:c.2580G>A, XM_047435209.1:c.2355G>A, XM_047435212.1:c.2403G>A, XM_047435216.1:c.1911G>A, XM_047435202.1:c.2580G>A, XM_047435196.1:c.2388G>A, XM_047435198.1:c.2376G>A, XM_047435215.1:c.2343G>A, XM_047435206.1:c.2388G>A, XM_047435207.1:c.2388G>A, XM_047435208.1:c.2376G>A, XM_047435213.1:c.2388G>A, XM_047435214.1:c.2376G>A

              7.

              rs1489471187 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:7890604 (GRCh38)
                17:7793922 (GRCh37)
                Canonical SPDI:
                NC_000017.11:7890603:G:A
                Gene:
                CHD3 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000017.11:g.7890604G>A, NC_000017.10:g.7793922G>A, XM_005256427.5:c.424G>A, XM_005256427.4:c.424G>A, XM_005256427.3:c.424G>A, XM_005256427.2:c.424G>A, XM_005256427.1:c.424G>A, XM_005256429.5:c.424G>A, XM_005256429.4:c.424G>A, XM_005256429.3:c.424G>A, XM_005256429.2:c.424G>A, XM_005256429.1:c.424G>A, XM_005256428.5:c.424G>A, XM_005256428.4:c.424G>A, XM_005256428.3:c.424G>A, XM_005256428.2:c.424G>A, XM_005256428.1:c.424G>A, XM_005256431.5:c.424G>A, XM_005256431.4:c.424G>A, XM_005256431.3:c.424G>A, XM_005256431.2:c.424G>A, XM_005256431.1:c.424G>A, XM_006721423.4:c.424G>A, XM_006721423.3:c.424G>A, XM_006721423.2:c.424G>A, XM_006721423.1:c.424G>A, XM_006721424.4:c.424G>A, XM_006721424.3:c.424G>A, XM_006721424.2:c.424G>A, XM_006721424.1:c.424G>A, NM_005852.4:c.247G>A, NM_005852.3:c.247G>A, XM_006721428.4:c.424G>A, XM_006721428.3:c.424G>A, XM_006721428.2:c.424G>A, XM_006721428.1:c.424G>A, XM_017024067.3:c.214G>A, XM_017024067.2:c.214G>A, XM_017024067.1:c.214G>A, NM_001005273.3:c.247G>A, NM_001005273.2:c.247G>A, NM_001005271.3:c.424G>A, NM_001005271.2:c.424G>A, XM_017024066.2:c.217G>A, XM_017024066.1:c.187G>A, XM_017024063.2:c.247G>A, XM_017024063.1:c.247G>A, XM_017024068.2:c.187G>A, XM_017024068.1:c.187G>A, XM_017024064.2:c.424G>A, XM_017024064.1:c.424G>A, XM_017024069.2:c.-258G>A, XM_017024069.1:c.-258G>A, XM_017024065.2:c.424G>A, XM_017024065.1:c.424G>A, XM_047435193.1:c.247G>A, XM_047435194.1:c.247G>A, XM_047435195.1:c.247G>A, XM_047435190.1:c.424G>A, XM_047435203.1:c.247G>A, XM_047435205.1:c.247G>A, XM_047435211.1:c.187G>A, XM_047435192.1:c.424G>A, XM_047435197.1:c.214G>A, XM_047435199.1:c.187G>A, XM_047435200.1:c.187G>A, XM_047435201.1:c.187G>A, XM_047435204.1:c.187G>A, XM_047435210.1:c.187G>A, XM_047435191.1:c.424G>A, XM_047435209.1:c.187G>A, XM_047435212.1:c.247G>A, XM_047435216.1:c.-258G>A, XM_047435202.1:c.424G>A, XM_047435196.1:c.424G>A, XM_047435198.1:c.424G>A, XM_047435215.1:c.187G>A, XM_047435206.1:c.424G>A, XM_047435207.1:c.424G>A, XM_047435208.1:c.424G>A, XM_047435213.1:c.424G>A, XM_047435214.1:c.424G>A, XP_005256484.1:p.Glu142Lys, XP_005256486.1:p.Glu142Lys, XP_005256485.1:p.Glu142Lys, XP_005256488.1:p.Glu142Lys, XP_006721486.1:p.Glu142Lys, XP_006721487.1:p.Glu142Lys, NP_005843.2:p.Glu83Lys, XP_006721491.1:p.Glu142Lys, XP_016879556.1:p.Glu72Lys, NP_001005273.1:p.Glu83Lys, NP_001005271.2:p.Glu142Lys, XP_016879555.2:p.Glu73Lys, XP_016879552.1:p.Glu83Lys, XP_016879557.1:p.Glu63Lys, XP_016879553.1:p.Glu142Lys, XP_016879554.1:p.Glu142Lys, XP_047291149.1:p.Glu83Lys, XP_047291150.1:p.Glu83Lys, XP_047291151.1:p.Glu83Lys, XP_047291146.1:p.Glu142Lys, XP_047291159.1:p.Glu83Lys, XP_047291161.1:p.Glu83Lys, XP_047291167.1:p.Glu63Lys, XP_047291148.1:p.Glu142Lys, XP_047291153.1:p.Glu72Lys, XP_047291155.1:p.Glu63Lys, XP_047291156.1:p.Glu63Lys, XP_047291157.1:p.Glu63Lys, XP_047291160.1:p.Glu63Lys, XP_047291166.1:p.Glu63Lys, XP_047291147.1:p.Glu142Lys, XP_047291165.1:p.Glu63Lys, XP_047291168.1:p.Glu83Lys, XP_047291158.1:p.Glu142Lys, XP_047291152.1:p.Glu142Lys, XP_047291154.1:p.Glu142Lys, XP_047291171.1:p.Glu63Lys, XP_047291162.1:p.Glu142Lys, XP_047291163.1:p.Glu142Lys, XP_047291164.1:p.Glu142Lys, XP_047291169.1:p.Glu142Lys, XP_047291170.1:p.Glu142Lys

                8.

                rs1489328006 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:7893515 (GRCh38)
                  17:7796833 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:7893514:G:C
                  Gene:
                  CHD3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000017.11:g.7893515G>C, NC_000017.10:g.7796833G>C, XM_005256427.5:c.916G>C, XM_005256427.4:c.916G>C, XM_005256427.3:c.916G>C, XM_005256427.2:c.916G>C, XM_005256427.1:c.916G>C, XM_005256429.5:c.916G>C, XM_005256429.4:c.916G>C, XM_005256429.3:c.916G>C, XM_005256429.2:c.916G>C, XM_005256429.1:c.916G>C, XM_005256428.5:c.916G>C, XM_005256428.4:c.916G>C, XM_005256428.3:c.916G>C, XM_005256428.2:c.916G>C, XM_005256428.1:c.916G>C, XM_005256431.5:c.916G>C, XM_005256431.4:c.916G>C, XM_005256431.3:c.916G>C, XM_005256431.2:c.916G>C, XM_005256431.1:c.916G>C, XM_006721423.4:c.916G>C, XM_006721423.3:c.916G>C, XM_006721423.2:c.916G>C, XM_006721423.1:c.916G>C, XM_006721424.4:c.916G>C, XM_006721424.3:c.916G>C, XM_006721424.2:c.916G>C, XM_006721424.1:c.916G>C, NM_005852.4:c.739G>C, NM_005852.3:c.739G>C, XM_006721428.4:c.916G>C, XM_006721428.3:c.916G>C, XM_006721428.2:c.916G>C, XM_006721428.1:c.916G>C, XM_017024067.3:c.706G>C, XM_017024067.2:c.706G>C, XM_017024067.1:c.706G>C, NM_001005273.3:c.739G>C, NM_001005273.2:c.739G>C, NM_001005271.3:c.916G>C, NM_001005271.2:c.916G>C, XM_017024066.2:c.709G>C, XM_017024066.1:c.679G>C, XM_017024063.2:c.739G>C, XM_017024063.1:c.739G>C, XM_017024068.2:c.679G>C, XM_017024068.1:c.679G>C, XM_017024064.2:c.916G>C, XM_017024064.1:c.916G>C, XM_017024069.2:c.235G>C, XM_017024069.1:c.235G>C, XM_017024065.2:c.916G>C, XM_017024065.1:c.916G>C, XM_047435193.1:c.739G>C, XM_047435194.1:c.739G>C, XM_047435195.1:c.739G>C, XM_047435190.1:c.916G>C, XM_047435203.1:c.739G>C, XM_047435205.1:c.739G>C, XM_047435211.1:c.679G>C, XM_047435192.1:c.916G>C, XM_047435197.1:c.706G>C, XM_047435199.1:c.679G>C, XM_047435200.1:c.679G>C, XM_047435201.1:c.679G>C, XM_047435204.1:c.679G>C, XM_047435210.1:c.679G>C, XM_047435191.1:c.916G>C, XM_047435209.1:c.679G>C, XM_047435212.1:c.739G>C, XM_047435216.1:c.235G>C, XM_047435202.1:c.916G>C, XM_047435196.1:c.916G>C, XM_047435198.1:c.916G>C, XM_047435215.1:c.679G>C, XM_047435206.1:c.916G>C, XM_047435207.1:c.916G>C, XM_047435208.1:c.916G>C, XM_047435213.1:c.916G>C, XM_047435214.1:c.916G>C, XP_005256484.1:p.Ala306Pro, XP_005256486.1:p.Ala306Pro, XP_005256485.1:p.Ala306Pro, XP_005256488.1:p.Ala306Pro, XP_006721486.1:p.Ala306Pro, XP_006721487.1:p.Ala306Pro, NP_005843.2:p.Ala247Pro, XP_006721491.1:p.Ala306Pro, XP_016879556.1:p.Ala236Pro, NP_001005273.1:p.Ala247Pro, NP_001005271.2:p.Ala306Pro, XP_016879555.2:p.Ala237Pro, XP_016879552.1:p.Ala247Pro, XP_016879557.1:p.Ala227Pro, XP_016879553.1:p.Ala306Pro, XP_016879558.1:p.Ala79Pro, XP_016879554.1:p.Ala306Pro, XP_047291149.1:p.Ala247Pro, XP_047291150.1:p.Ala247Pro, XP_047291151.1:p.Ala247Pro, XP_047291146.1:p.Ala306Pro, XP_047291159.1:p.Ala247Pro, XP_047291161.1:p.Ala247Pro, XP_047291167.1:p.Ala227Pro, XP_047291148.1:p.Ala306Pro, XP_047291153.1:p.Ala236Pro, XP_047291155.1:p.Ala227Pro, XP_047291156.1:p.Ala227Pro, XP_047291157.1:p.Ala227Pro, XP_047291160.1:p.Ala227Pro, XP_047291166.1:p.Ala227Pro, XP_047291147.1:p.Ala306Pro, XP_047291165.1:p.Ala227Pro, XP_047291168.1:p.Ala247Pro, XP_047291172.1:p.Ala79Pro, XP_047291158.1:p.Ala306Pro, XP_047291152.1:p.Ala306Pro, XP_047291154.1:p.Ala306Pro, XP_047291171.1:p.Ala227Pro, XP_047291162.1:p.Ala306Pro, XP_047291163.1:p.Ala306Pro, XP_047291164.1:p.Ala306Pro, XP_047291169.1:p.Ala306Pro, XP_047291170.1:p.Ala306Pro

                  9.

                  rs1488011923 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:7902959 (GRCh38)
                    17:7806277 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:7902958:C:T
                    Gene:
                    CHD3 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.7902959C>T, NC_000017.10:g.7806277C>T, XM_005256427.5:c.3570C>T, XM_005256427.4:c.3570C>T, XM_005256427.3:c.3570C>T, XM_005256427.2:c.3570C>T, XM_005256427.1:c.3570C>T, XM_005256429.5:c.3570C>T, XM_005256429.4:c.3570C>T, XM_005256429.3:c.3570C>T, XM_005256429.2:c.3570C>T, XM_005256429.1:c.3570C>T, XM_005256428.5:c.3570C>T, XM_005256428.4:c.3570C>T, XM_005256428.3:c.3570C>T, XM_005256428.2:c.3570C>T, XM_005256428.1:c.3570C>T, XM_005256431.5:c.*82C>T, XM_005256431.4:c.*82C>T, XM_006721423.4:c.3570C>T, XM_006721423.3:c.3570C>T, XM_006721423.2:c.3570C>T, XM_006721423.1:c.3570C>T, XM_006721424.4:c.3558C>T, XM_006721424.3:c.3558C>T, XM_006721424.2:c.3558C>T, XM_006721424.1:c.3558C>T, NM_005852.4:c.3393C>T, NM_005852.3:c.3393C>T, XM_006721428.4:c.3570C>T, XM_006721428.3:c.3570C>T, XM_006721428.2:c.3570C>T, XM_006721428.1:c.3570C>T, XM_017024067.3:c.3360C>T, XM_017024067.2:c.3360C>T, XM_017024067.1:c.3360C>T, NM_001005273.3:c.3393C>T, NM_001005273.2:c.3393C>T, NM_001005271.3:c.3570C>T, NM_001005271.2:c.3570C>T, XM_017024066.2:c.3363C>T, XM_017024066.1:c.3333C>T, XM_017024063.2:c.3393C>T, XM_017024063.1:c.3393C>T, XM_017024068.2:c.3333C>T, XM_017024068.1:c.3333C>T, XM_017024064.2:c.3558C>T, XM_017024064.1:c.3558C>T, XM_017024069.2:c.2889C>T, XM_017024069.1:c.2889C>T, XM_017024065.2:c.3366C>T, XM_017024065.1:c.3366C>T, XM_047435193.1:c.3393C>T, XM_047435194.1:c.3381C>T, XM_047435195.1:c.3381C>T, XM_047435190.1:c.3558C>T, XM_047435203.1:c.3381C>T, XM_047435205.1:c.3381C>T, XM_047435211.1:c.3321C>T, XM_047435192.1:c.3558C>T, XM_047435197.1:c.3360C>T, XM_047435199.1:c.3333C>T, XM_047435200.1:c.3321C>T, XM_047435201.1:c.3321C>T, XM_047435204.1:c.3321C>T, XM_047435210.1:c.3321C>T, XM_047435191.1:c.3558C>T, XM_047435209.1:c.3333C>T, XM_047435212.1:c.3381C>T, XM_047435216.1:c.2889C>T, XM_047435202.1:c.3558C>T, XM_047435196.1:c.3366C>T, XM_047435198.1:c.3354C>T, XM_047435215.1:c.3321C>T, XM_047435206.1:c.3366C>T, XM_047435207.1:c.3366C>T, XM_047435208.1:c.3354C>T, XM_047435213.1:c.3366C>T, XM_047435214.1:c.3354C>T

                    10.

                    rs1487831203 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:7899897 (GRCh38)
                      17:7803215 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:7899896:G:A
                      Gene:
                      CHD3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      NC_000017.11:g.7899897G>A, NC_000017.10:g.7803215G>A, XM_005256427.5:c.2723G>A, XM_005256427.4:c.2723G>A, XM_005256427.3:c.2723G>A, XM_005256427.2:c.2723G>A, XM_005256427.1:c.2723G>A, XM_005256429.5:c.2723G>A, XM_005256429.4:c.2723G>A, XM_005256429.3:c.2723G>A, XM_005256429.2:c.2723G>A, XM_005256429.1:c.2723G>A, XM_005256428.5:c.2723G>A, XM_005256428.4:c.2723G>A, XM_005256428.3:c.2723G>A, XM_005256428.2:c.2723G>A, XM_005256428.1:c.2723G>A, XM_005256431.5:c.2723G>A, XM_005256431.4:c.2723G>A, XM_005256431.3:c.2723G>A, XM_005256431.2:c.2723G>A, XM_005256431.1:c.2723G>A, XM_006721423.4:c.2723G>A, XM_006721423.3:c.2723G>A, XM_006721423.2:c.2723G>A, XM_006721423.1:c.2723G>A, XM_006721424.4:c.2711G>A, XM_006721424.3:c.2711G>A, XM_006721424.2:c.2711G>A, XM_006721424.1:c.2711G>A, NM_005852.4:c.2546G>A, NM_005852.3:c.2546G>A, XM_006721428.4:c.2723G>A, XM_006721428.3:c.2723G>A, XM_006721428.2:c.2723G>A, XM_006721428.1:c.2723G>A, XM_017024067.3:c.2513G>A, XM_017024067.2:c.2513G>A, XM_017024067.1:c.2513G>A, NM_001005273.3:c.2546G>A, NM_001005273.2:c.2546G>A, NM_001005271.3:c.2723G>A, NM_001005271.2:c.2723G>A, XM_017024066.2:c.2516G>A, XM_017024066.1:c.2486G>A, XM_017024063.2:c.2546G>A, XM_017024063.1:c.2546G>A, XM_017024068.2:c.2486G>A, XM_017024068.1:c.2486G>A, XM_017024064.2:c.2711G>A, XM_017024064.1:c.2711G>A, XM_017024069.2:c.2042G>A, XM_017024069.1:c.2042G>A, XM_017024065.2:c.2519G>A, XM_017024065.1:c.2519G>A, XM_047435193.1:c.2546G>A, XM_047435194.1:c.2534G>A, XM_047435195.1:c.2534G>A, XM_047435190.1:c.2711G>A, XM_047435203.1:c.2534G>A, XM_047435205.1:c.2534G>A, XM_047435211.1:c.2474G>A, XM_047435192.1:c.2711G>A, XM_047435197.1:c.2513G>A, XM_047435199.1:c.2486G>A, XM_047435200.1:c.2474G>A, XM_047435201.1:c.2474G>A, XM_047435204.1:c.2474G>A, XM_047435210.1:c.2474G>A, XM_047435191.1:c.2711G>A, XM_047435209.1:c.2486G>A, XM_047435212.1:c.2534G>A, XM_047435216.1:c.2042G>A, XM_047435202.1:c.2711G>A, XM_047435196.1:c.2519G>A, XM_047435198.1:c.2507G>A, XM_047435215.1:c.2474G>A, XM_047435206.1:c.2519G>A, XM_047435207.1:c.2519G>A, XM_047435208.1:c.2507G>A, XM_047435213.1:c.2519G>A, XM_047435214.1:c.2507G>A, XP_005256484.1:p.Arg908Lys, XP_005256486.1:p.Arg908Lys, XP_005256485.1:p.Arg908Lys, XP_005256488.1:p.Arg908Lys, XP_006721486.1:p.Arg908Lys, XP_006721487.1:p.Arg904Lys, NP_005843.2:p.Arg849Lys, XP_006721491.1:p.Arg908Lys, XP_016879556.1:p.Arg838Lys, NP_001005273.1:p.Arg849Lys, NP_001005271.2:p.Arg908Lys, XP_016879555.2:p.Arg839Lys, XP_016879552.1:p.Arg849Lys, XP_016879557.1:p.Arg829Lys, XP_016879553.1:p.Arg904Lys, XP_016879558.1:p.Arg681Lys, XP_016879554.1:p.Arg840Lys, XP_047291149.1:p.Arg849Lys, XP_047291150.1:p.Arg845Lys, XP_047291151.1:p.Arg845Lys, XP_047291146.1:p.Arg904Lys, XP_047291159.1:p.Arg845Lys, XP_047291161.1:p.Arg845Lys, XP_047291167.1:p.Arg825Lys, XP_047291148.1:p.Arg904Lys, XP_047291153.1:p.Arg838Lys, XP_047291155.1:p.Arg829Lys, XP_047291156.1:p.Arg825Lys, XP_047291157.1:p.Arg825Lys, XP_047291160.1:p.Arg825Lys, XP_047291166.1:p.Arg825Lys, XP_047291147.1:p.Arg904Lys, XP_047291165.1:p.Arg829Lys, XP_047291168.1:p.Arg845Lys, XP_047291172.1:p.Arg681Lys, XP_047291158.1:p.Arg904Lys, XP_047291152.1:p.Arg840Lys, XP_047291154.1:p.Arg836Lys, XP_047291171.1:p.Arg825Lys, XP_047291162.1:p.Arg840Lys, XP_047291163.1:p.Arg840Lys, XP_047291164.1:p.Arg836Lys, XP_047291169.1:p.Arg840Lys, XP_047291170.1:p.Arg836Lys

                      11.

                      rs1487730047 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:7908819 (GRCh38)
                        17:7812137 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:7908818:G:A
                        Gene:
                        CHD3 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000017.11:g.7908819G>A, NC_000017.10:g.7812137G>A, XM_005256427.5:c.5564G>A, XM_005256427.4:c.5564G>A, XM_005256427.3:c.5564G>A, XM_005256427.2:c.5564G>A, XM_005256427.1:c.5564G>A, XM_005256429.5:c.5564G>A, XM_005256429.4:c.5564G>A, XM_005256429.3:c.5564G>A, XM_005256429.2:c.5564G>A, XM_005256429.1:c.5564G>A, XM_005256428.5:c.5459G>A, XM_005256428.4:c.5459G>A, XM_005256428.3:c.5459G>A, XM_005256428.2:c.5459G>A, XM_005256428.1:c.5459G>A, XM_006721423.4:c.5561G>A, XM_006721423.3:c.5561G>A, XM_006721423.2:c.5561G>A, XM_006721423.1:c.5561G>A, XM_006721424.4:c.5552G>A, XM_006721424.3:c.5552G>A, XM_006721424.2:c.5552G>A, XM_006721424.1:c.5552G>A, NM_005852.4:c.5282G>A, NM_005852.3:c.5282G>A, XM_006721428.4:c.5459G>A, XM_006721428.3:c.5459G>A, XM_006721428.2:c.5459G>A, XM_006721428.1:c.5459G>A, XM_017024067.3:c.5354G>A, XM_017024067.2:c.5354G>A, XM_017024067.1:c.5354G>A, NM_001005273.3:c.5384G>A, NM_001005273.2:c.5384G>A, NM_001005271.3:c.5561G>A, NM_001005271.2:c.5561G>A, XM_017024066.2:c.5357G>A, XM_017024066.1:c.5327G>A, XM_017024063.2:c.5387G>A, XM_017024063.1:c.5387G>A, XM_017024068.2:c.5327G>A, XM_017024068.1:c.5327G>A, XM_017024064.2:c.5549G>A, XM_017024064.1:c.5549G>A, XM_017024069.2:c.4883G>A, XM_017024069.1:c.4883G>A, XM_017024065.2:c.5360G>A, XM_017024065.1:c.5360G>A, XM_047435193.1:c.5384G>A, XM_047435194.1:c.5375G>A, XM_047435195.1:c.5372G>A, XM_047435190.1:c.5549G>A, XM_047435203.1:c.5375G>A, XM_047435205.1:c.5372G>A, XM_047435211.1:c.5312G>A, XM_047435192.1:c.5552G>A, XM_047435197.1:c.5354G>A, XM_047435199.1:c.5327G>A, XM_047435200.1:c.5315G>A, XM_047435201.1:c.5312G>A, XM_047435204.1:c.5210G>A, XM_047435210.1:c.5315G>A, XM_047435191.1:c.5447G>A, XM_047435209.1:c.5324G>A, XM_047435212.1:c.5270G>A, XM_047435216.1:c.4883G>A, XM_047435202.1:c.5447G>A, XM_047435196.1:c.5357G>A, XM_047435198.1:c.5345G>A, XM_047435215.1:c.5210G>A, XM_047435206.1:c.5360G>A, XM_047435207.1:c.5357G>A, XM_047435208.1:c.5345G>A, XM_047435213.1:c.5255G>A, XM_047435214.1:c.5243G>A, XP_005256484.1:p.Arg1855Gln, XP_005256486.1:p.Arg1855Gln, XP_005256485.1:p.Arg1820Gln, XP_006721486.1:p.Arg1854Gln, XP_006721487.1:p.Arg1851Gln, NP_005843.2:p.Arg1761Gln, XP_006721491.1:p.Arg1820Gln, XP_016879556.1:p.Arg1785Gln, NP_001005273.1:p.Arg1795Gln, NP_001005271.2:p.Arg1854Gln, XP_016879555.2:p.Arg1786Gln, XP_016879552.1:p.Arg1796Gln, XP_016879557.1:p.Arg1776Gln, XP_016879553.1:p.Arg1850Gln, XP_016879558.1:p.Arg1628Gln, XP_016879554.1:p.Arg1787Gln, XP_047291149.1:p.Arg1795Gln, XP_047291150.1:p.Arg1792Gln, XP_047291151.1:p.Arg1791Gln, XP_047291146.1:p.Arg1850Gln, XP_047291159.1:p.Arg1792Gln, XP_047291161.1:p.Arg1791Gln, XP_047291167.1:p.Arg1771Gln, XP_047291148.1:p.Arg1851Gln, XP_047291153.1:p.Arg1785Gln, XP_047291155.1:p.Arg1776Gln, XP_047291156.1:p.Arg1772Gln, XP_047291157.1:p.Arg1771Gln, XP_047291160.1:p.Arg1737Gln, XP_047291166.1:p.Arg1772Gln, XP_047291147.1:p.Arg1816Gln, XP_047291165.1:p.Arg1775Gln, XP_047291168.1:p.Arg1757Gln, XP_047291172.1:p.Arg1628Gln, XP_047291158.1:p.Arg1816Gln, XP_047291152.1:p.Arg1786Gln, XP_047291154.1:p.Arg1782Gln, XP_047291171.1:p.Arg1737Gln, XP_047291162.1:p.Arg1787Gln, XP_047291163.1:p.Arg1786Gln, XP_047291164.1:p.Arg1782Gln, XP_047291169.1:p.Arg1752Gln, XP_047291170.1:p.Arg1748Gln

                        12.

                        rs1487395776 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:7890650 (GRCh38)
                          17:7793968 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:7890649:G:A
                          Gene:
                          CHD3 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000017.11:g.7890650G>A, NC_000017.10:g.7793968G>A, XM_005256427.5:c.470G>A, XM_005256427.4:c.470G>A, XM_005256427.3:c.470G>A, XM_005256427.2:c.470G>A, XM_005256427.1:c.470G>A, XM_005256429.5:c.470G>A, XM_005256429.4:c.470G>A, XM_005256429.3:c.470G>A, XM_005256429.2:c.470G>A, XM_005256429.1:c.470G>A, XM_005256428.5:c.470G>A, XM_005256428.4:c.470G>A, XM_005256428.3:c.470G>A, XM_005256428.2:c.470G>A, XM_005256428.1:c.470G>A, XM_005256431.5:c.470G>A, XM_005256431.4:c.470G>A, XM_005256431.3:c.470G>A, XM_005256431.2:c.470G>A, XM_005256431.1:c.470G>A, XM_006721423.4:c.470G>A, XM_006721423.3:c.470G>A, XM_006721423.2:c.470G>A, XM_006721423.1:c.470G>A, XM_006721424.4:c.470G>A, XM_006721424.3:c.470G>A, XM_006721424.2:c.470G>A, XM_006721424.1:c.470G>A, NM_005852.4:c.293G>A, NM_005852.3:c.293G>A, XM_006721428.4:c.470G>A, XM_006721428.3:c.470G>A, XM_006721428.2:c.470G>A, XM_006721428.1:c.470G>A, XM_017024067.3:c.260G>A, XM_017024067.2:c.260G>A, XM_017024067.1:c.260G>A, NM_001005273.3:c.293G>A, NM_001005273.2:c.293G>A, NM_001005271.3:c.470G>A, NM_001005271.2:c.470G>A, XM_017024066.2:c.263G>A, XM_017024066.1:c.233G>A, XM_017024063.2:c.293G>A, XM_017024063.1:c.293G>A, XM_017024068.2:c.233G>A, XM_017024068.1:c.233G>A, XM_017024064.2:c.470G>A, XM_017024064.1:c.470G>A, XM_017024069.2:c.-212G>A, XM_017024069.1:c.-212G>A, XM_017024065.2:c.470G>A, XM_017024065.1:c.470G>A, XM_047435193.1:c.293G>A, XM_047435194.1:c.293G>A, XM_047435195.1:c.293G>A, XM_047435190.1:c.470G>A, XM_047435203.1:c.293G>A, XM_047435205.1:c.293G>A, XM_047435211.1:c.233G>A, XM_047435192.1:c.470G>A, XM_047435197.1:c.260G>A, XM_047435199.1:c.233G>A, XM_047435200.1:c.233G>A, XM_047435201.1:c.233G>A, XM_047435204.1:c.233G>A, XM_047435210.1:c.233G>A, XM_047435191.1:c.470G>A, XM_047435209.1:c.233G>A, XM_047435212.1:c.293G>A, XM_047435216.1:c.-212G>A, XM_047435202.1:c.470G>A, XM_047435196.1:c.470G>A, XM_047435198.1:c.470G>A, XM_047435215.1:c.233G>A, XM_047435206.1:c.470G>A, XM_047435207.1:c.470G>A, XM_047435208.1:c.470G>A, XM_047435213.1:c.470G>A, XM_047435214.1:c.470G>A, XP_005256484.1:p.Gly157Glu, XP_005256486.1:p.Gly157Glu, XP_005256485.1:p.Gly157Glu, XP_005256488.1:p.Gly157Glu, XP_006721486.1:p.Gly157Glu, XP_006721487.1:p.Gly157Glu, NP_005843.2:p.Gly98Glu, XP_006721491.1:p.Gly157Glu, XP_016879556.1:p.Gly87Glu, NP_001005273.1:p.Gly98Glu, NP_001005271.2:p.Gly157Glu, XP_016879555.2:p.Gly88Glu, XP_016879552.1:p.Gly98Glu, XP_016879557.1:p.Gly78Glu, XP_016879553.1:p.Gly157Glu, XP_016879554.1:p.Gly157Glu, XP_047291149.1:p.Gly98Glu, XP_047291150.1:p.Gly98Glu, XP_047291151.1:p.Gly98Glu, XP_047291146.1:p.Gly157Glu, XP_047291159.1:p.Gly98Glu, XP_047291161.1:p.Gly98Glu, XP_047291167.1:p.Gly78Glu, XP_047291148.1:p.Gly157Glu, XP_047291153.1:p.Gly87Glu, XP_047291155.1:p.Gly78Glu, XP_047291156.1:p.Gly78Glu, XP_047291157.1:p.Gly78Glu, XP_047291160.1:p.Gly78Glu, XP_047291166.1:p.Gly78Glu, XP_047291147.1:p.Gly157Glu, XP_047291165.1:p.Gly78Glu, XP_047291168.1:p.Gly98Glu, XP_047291158.1:p.Gly157Glu, XP_047291152.1:p.Gly157Glu, XP_047291154.1:p.Gly157Glu, XP_047291171.1:p.Gly78Glu, XP_047291162.1:p.Gly157Glu, XP_047291163.1:p.Gly157Glu, XP_047291164.1:p.Gly157Glu, XP_047291169.1:p.Gly157Glu, XP_047291170.1:p.Gly157Glu

                          13.

                          rs1487274343 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:7895371 (GRCh38)
                            17:7798689 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:7895370:C:T
                            Gene:
                            CHD3 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000017.11:g.7895371C>T, NC_000017.10:g.7798689C>T, XM_005256427.5:c.1713C>T, XM_005256427.4:c.1713C>T, XM_005256427.3:c.1713C>T, XM_005256427.2:c.1713C>T, XM_005256427.1:c.1713C>T, XM_005256429.5:c.1713C>T, XM_005256429.4:c.1713C>T, XM_005256429.3:c.1713C>T, XM_005256429.2:c.1713C>T, XM_005256429.1:c.1713C>T, XM_005256428.5:c.1713C>T, XM_005256428.4:c.1713C>T, XM_005256428.3:c.1713C>T, XM_005256428.2:c.1713C>T, XM_005256428.1:c.1713C>T, XM_005256431.5:c.1713C>T, XM_005256431.4:c.1713C>T, XM_005256431.3:c.1713C>T, XM_005256431.2:c.1713C>T, XM_005256431.1:c.1713C>T, XM_006721423.4:c.1713C>T, XM_006721423.3:c.1713C>T, XM_006721423.2:c.1713C>T, XM_006721423.1:c.1713C>T, XM_006721424.4:c.1701C>T, XM_006721424.3:c.1701C>T, XM_006721424.2:c.1701C>T, XM_006721424.1:c.1701C>T, NM_005852.4:c.1536C>T, NM_005852.3:c.1536C>T, XM_006721428.4:c.1713C>T, XM_006721428.3:c.1713C>T, XM_006721428.2:c.1713C>T, XM_006721428.1:c.1713C>T, XM_017024067.3:c.1503C>T, XM_017024067.2:c.1503C>T, XM_017024067.1:c.1503C>T, NM_001005273.3:c.1536C>T, NM_001005273.2:c.1536C>T, NM_001005271.3:c.1713C>T, NM_001005271.2:c.1713C>T, XM_017024066.2:c.1506C>T, XM_017024066.1:c.1476C>T, XM_017024063.2:c.1536C>T, XM_017024063.1:c.1536C>T, XM_017024068.2:c.1476C>T, XM_017024068.1:c.1476C>T, XM_017024064.2:c.1701C>T, XM_017024064.1:c.1701C>T, XM_017024069.2:c.1032C>T, XM_017024069.1:c.1032C>T, XM_047435193.1:c.1536C>T, XM_047435194.1:c.1524C>T, XM_047435195.1:c.1524C>T, XM_047435190.1:c.1701C>T, XM_047435203.1:c.1524C>T, XM_047435205.1:c.1524C>T, XM_047435211.1:c.1464C>T, XM_047435192.1:c.1701C>T, XM_047435197.1:c.1503C>T, XM_047435199.1:c.1476C>T, XM_047435200.1:c.1464C>T, XM_047435201.1:c.1464C>T, XM_047435204.1:c.1464C>T, XM_047435210.1:c.1464C>T, XM_047435191.1:c.1701C>T, XM_047435209.1:c.1476C>T, XM_047435212.1:c.1524C>T, XM_047435216.1:c.1032C>T, XM_047435202.1:c.1701C>T, XM_047435215.1:c.1464C>T

                            14.

                            rs1487184225 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              17:7891016 (GRCh38)
                              17:7794334 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:7891015:A:C
                              Gene:
                              CHD3 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,coding_sequence_variant,missense_variant
                              HGVS:
                              NC_000017.11:g.7891016A>C, NC_000017.10:g.7794334A>C, XM_005256427.5:c.638A>C, XM_005256427.4:c.638A>C, XM_005256427.3:c.638A>C, XM_005256427.2:c.638A>C, XM_005256427.1:c.638A>C, XM_005256429.5:c.638A>C, XM_005256429.4:c.638A>C, XM_005256429.3:c.638A>C, XM_005256429.2:c.638A>C, XM_005256429.1:c.638A>C, XM_005256428.5:c.638A>C, XM_005256428.4:c.638A>C, XM_005256428.3:c.638A>C, XM_005256428.2:c.638A>C, XM_005256428.1:c.638A>C, XM_005256431.5:c.638A>C, XM_005256431.4:c.638A>C, XM_005256431.3:c.638A>C, XM_005256431.2:c.638A>C, XM_005256431.1:c.638A>C, XM_006721423.4:c.638A>C, XM_006721423.3:c.638A>C, XM_006721423.2:c.638A>C, XM_006721423.1:c.638A>C, XM_006721424.4:c.638A>C, XM_006721424.3:c.638A>C, XM_006721424.2:c.638A>C, XM_006721424.1:c.638A>C, NM_005852.4:c.461A>C, NM_005852.3:c.461A>C, XM_006721428.4:c.638A>C, XM_006721428.3:c.638A>C, XM_006721428.2:c.638A>C, XM_006721428.1:c.638A>C, XM_017024067.3:c.428A>C, XM_017024067.2:c.428A>C, XM_017024067.1:c.428A>C, NM_001005273.3:c.461A>C, NM_001005273.2:c.461A>C, NM_001005271.3:c.638A>C, NM_001005271.2:c.638A>C, XM_017024066.2:c.431A>C, XM_017024066.1:c.401A>C, XM_017024063.2:c.461A>C, XM_017024063.1:c.461A>C, XM_017024068.2:c.401A>C, XM_017024068.1:c.401A>C, XM_017024064.2:c.638A>C, XM_017024064.1:c.638A>C, XM_017024069.2:c.-44A>C, XM_017024069.1:c.-44A>C, XM_017024065.2:c.638A>C, XM_017024065.1:c.638A>C, XM_047435193.1:c.461A>C, XM_047435194.1:c.461A>C, XM_047435195.1:c.461A>C, XM_047435190.1:c.638A>C, XM_047435203.1:c.461A>C, XM_047435205.1:c.461A>C, XM_047435211.1:c.401A>C, XM_047435192.1:c.638A>C, XM_047435197.1:c.428A>C, XM_047435199.1:c.401A>C, XM_047435200.1:c.401A>C, XM_047435201.1:c.401A>C, XM_047435204.1:c.401A>C, XM_047435210.1:c.401A>C, XM_047435191.1:c.638A>C, XM_047435209.1:c.401A>C, XM_047435212.1:c.461A>C, XM_047435216.1:c.-44A>C, XM_047435202.1:c.638A>C, XM_047435196.1:c.638A>C, XM_047435198.1:c.638A>C, XM_047435215.1:c.401A>C, XM_047435206.1:c.638A>C, XM_047435207.1:c.638A>C, XM_047435208.1:c.638A>C, XM_047435213.1:c.638A>C, XM_047435214.1:c.638A>C, XP_005256484.1:p.Glu213Ala, XP_005256486.1:p.Glu213Ala, XP_005256485.1:p.Glu213Ala, XP_005256488.1:p.Glu213Ala, XP_006721486.1:p.Glu213Ala, XP_006721487.1:p.Glu213Ala, NP_005843.2:p.Glu154Ala, XP_006721491.1:p.Glu213Ala, XP_016879556.1:p.Glu143Ala, NP_001005273.1:p.Glu154Ala, NP_001005271.2:p.Glu213Ala, XP_016879555.2:p.Glu144Ala, XP_016879552.1:p.Glu154Ala, XP_016879557.1:p.Glu134Ala, XP_016879553.1:p.Glu213Ala, XP_016879554.1:p.Glu213Ala, XP_047291149.1:p.Glu154Ala, XP_047291150.1:p.Glu154Ala, XP_047291151.1:p.Glu154Ala, XP_047291146.1:p.Glu213Ala, XP_047291159.1:p.Glu154Ala, XP_047291161.1:p.Glu154Ala, XP_047291167.1:p.Glu134Ala, XP_047291148.1:p.Glu213Ala, XP_047291153.1:p.Glu143Ala, XP_047291155.1:p.Glu134Ala, XP_047291156.1:p.Glu134Ala, XP_047291157.1:p.Glu134Ala, XP_047291160.1:p.Glu134Ala, XP_047291166.1:p.Glu134Ala, XP_047291147.1:p.Glu213Ala, XP_047291165.1:p.Glu134Ala, XP_047291168.1:p.Glu154Ala, XP_047291158.1:p.Glu213Ala, XP_047291152.1:p.Glu213Ala, XP_047291154.1:p.Glu213Ala, XP_047291171.1:p.Glu134Ala, XP_047291162.1:p.Glu213Ala, XP_047291163.1:p.Glu213Ala, XP_047291164.1:p.Glu213Ala, XP_047291169.1:p.Glu213Ala, XP_047291170.1:p.Glu213Ala

                              15.

                              rs1485866049 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                17:7898085 (GRCh38)
                                17:7801403 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:7898084:A:C
                                Gene:
                                CHD3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000017.11:g.7898085A>C, NC_000017.10:g.7801403A>C, XM_005256427.5:c.2211A>C, XM_005256427.4:c.2211A>C, XM_005256427.3:c.2211A>C, XM_005256427.2:c.2211A>C, XM_005256427.1:c.2211A>C, XM_005256429.5:c.2211A>C, XM_005256429.4:c.2211A>C, XM_005256429.3:c.2211A>C, XM_005256429.2:c.2211A>C, XM_005256429.1:c.2211A>C, XM_005256428.5:c.2211A>C, XM_005256428.4:c.2211A>C, XM_005256428.3:c.2211A>C, XM_005256428.2:c.2211A>C, XM_005256428.1:c.2211A>C, XM_005256431.5:c.2211A>C, XM_005256431.4:c.2211A>C, XM_005256431.3:c.2211A>C, XM_005256431.2:c.2211A>C, XM_005256431.1:c.2211A>C, XM_006721423.4:c.2211A>C, XM_006721423.3:c.2211A>C, XM_006721423.2:c.2211A>C, XM_006721423.1:c.2211A>C, XM_006721424.4:c.2199A>C, XM_006721424.3:c.2199A>C, XM_006721424.2:c.2199A>C, XM_006721424.1:c.2199A>C, NM_005852.4:c.2034A>C, NM_005852.3:c.2034A>C, XM_006721428.4:c.2211A>C, XM_006721428.3:c.2211A>C, XM_006721428.2:c.2211A>C, XM_006721428.1:c.2211A>C, XM_017024067.3:c.2001A>C, XM_017024067.2:c.2001A>C, XM_017024067.1:c.2001A>C, NM_001005273.3:c.2034A>C, NM_001005273.2:c.2034A>C, NM_001005271.3:c.2211A>C, NM_001005271.2:c.2211A>C, XM_017024066.2:c.2004A>C, XM_017024066.1:c.1974A>C, XM_017024063.2:c.2034A>C, XM_017024063.1:c.2034A>C, XM_017024068.2:c.1974A>C, XM_017024068.1:c.1974A>C, XM_017024064.2:c.2199A>C, XM_017024064.1:c.2199A>C, XM_017024069.2:c.1530A>C, XM_017024069.1:c.1530A>C, XM_017024065.2:c.2007A>C, XM_017024065.1:c.2007A>C, XM_047435193.1:c.2034A>C, XM_047435194.1:c.2022A>C, XM_047435195.1:c.2022A>C, XM_047435190.1:c.2199A>C, XM_047435203.1:c.2022A>C, XM_047435205.1:c.2022A>C, XM_047435211.1:c.1962A>C, XM_047435192.1:c.2199A>C, XM_047435197.1:c.2001A>C, XM_047435199.1:c.1974A>C, XM_047435200.1:c.1962A>C, XM_047435201.1:c.1962A>C, XM_047435204.1:c.1962A>C, XM_047435210.1:c.1962A>C, XM_047435191.1:c.2199A>C, XM_047435209.1:c.1974A>C, XM_047435212.1:c.2022A>C, XM_047435216.1:c.1530A>C, XM_047435202.1:c.2199A>C, XM_047435196.1:c.2007A>C, XM_047435198.1:c.1995A>C, XM_047435215.1:c.1962A>C, XM_047435206.1:c.2007A>C, XM_047435207.1:c.2007A>C, XM_047435208.1:c.1995A>C, XM_047435213.1:c.2007A>C, XM_047435214.1:c.1995A>C, XP_005256484.1:p.Gln737His, XP_005256486.1:p.Gln737His, XP_005256485.1:p.Gln737His, XP_005256488.1:p.Gln737His, XP_006721486.1:p.Gln737His, XP_006721487.1:p.Gln733His, NP_005843.2:p.Gln678His, XP_006721491.1:p.Gln737His, XP_016879556.1:p.Gln667His, NP_001005273.1:p.Gln678His, NP_001005271.2:p.Gln737His, XP_016879555.2:p.Gln668His, XP_016879552.1:p.Gln678His, XP_016879557.1:p.Gln658His, XP_016879553.1:p.Gln733His, XP_016879558.1:p.Gln510His, XP_016879554.1:p.Gln669His, XP_047291149.1:p.Gln678His, XP_047291150.1:p.Gln674His, XP_047291151.1:p.Gln674His, XP_047291146.1:p.Gln733His, XP_047291159.1:p.Gln674His, XP_047291161.1:p.Gln674His, XP_047291167.1:p.Gln654His, XP_047291148.1:p.Gln733His, XP_047291153.1:p.Gln667His, XP_047291155.1:p.Gln658His, XP_047291156.1:p.Gln654His, XP_047291157.1:p.Gln654His, XP_047291160.1:p.Gln654His, XP_047291166.1:p.Gln654His, XP_047291147.1:p.Gln733His, XP_047291165.1:p.Gln658His, XP_047291168.1:p.Gln674His, XP_047291172.1:p.Gln510His, XP_047291158.1:p.Gln733His, XP_047291152.1:p.Gln669His, XP_047291154.1:p.Gln665His, XP_047291171.1:p.Gln654His, XP_047291162.1:p.Gln669His, XP_047291163.1:p.Gln669His, XP_047291164.1:p.Gln665His, XP_047291169.1:p.Gln669His, XP_047291170.1:p.Gln665His

                                16.

                                rs1484287247 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:7900331 (GRCh38)
                                  17:7803649 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:7900330:G:A
                                  Gene:
                                  CHD3 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.7900331G>A, NC_000017.10:g.7803649G>A, XM_005256427.5:c.2901G>A, XM_005256427.4:c.2901G>A, XM_005256427.3:c.2901G>A, XM_005256427.2:c.2901G>A, XM_005256427.1:c.2901G>A, XM_005256429.5:c.2901G>A, XM_005256429.4:c.2901G>A, XM_005256429.3:c.2901G>A, XM_005256429.2:c.2901G>A, XM_005256429.1:c.2901G>A, XM_005256428.5:c.2901G>A, XM_005256428.4:c.2901G>A, XM_005256428.3:c.2901G>A, XM_005256428.2:c.2901G>A, XM_005256428.1:c.2901G>A, XM_005256431.5:c.2901G>A, XM_005256431.4:c.2901G>A, XM_005256431.3:c.2901G>A, XM_005256431.2:c.2901G>A, XM_005256431.1:c.2901G>A, XM_006721423.4:c.2901G>A, XM_006721423.3:c.2901G>A, XM_006721423.2:c.2901G>A, XM_006721423.1:c.2901G>A, XM_006721424.4:c.2889G>A, XM_006721424.3:c.2889G>A, XM_006721424.2:c.2889G>A, XM_006721424.1:c.2889G>A, NM_005852.4:c.2724G>A, NM_005852.3:c.2724G>A, XM_006721428.4:c.2901G>A, XM_006721428.3:c.2901G>A, XM_006721428.2:c.2901G>A, XM_006721428.1:c.2901G>A, XM_017024067.3:c.2691G>A, XM_017024067.2:c.2691G>A, XM_017024067.1:c.2691G>A, NM_001005273.3:c.2724G>A, NM_001005273.2:c.2724G>A, NM_001005271.3:c.2901G>A, NM_001005271.2:c.2901G>A, XM_017024066.2:c.2694G>A, XM_017024066.1:c.2664G>A, XM_017024063.2:c.2724G>A, XM_017024063.1:c.2724G>A, XM_017024068.2:c.2664G>A, XM_017024068.1:c.2664G>A, XM_017024064.2:c.2889G>A, XM_017024064.1:c.2889G>A, XM_017024069.2:c.2220G>A, XM_017024069.1:c.2220G>A, XM_017024065.2:c.2697G>A, XM_017024065.1:c.2697G>A, XM_047435193.1:c.2724G>A, XM_047435194.1:c.2712G>A, XM_047435195.1:c.2712G>A, XM_047435190.1:c.2889G>A, XM_047435203.1:c.2712G>A, XM_047435205.1:c.2712G>A, XM_047435211.1:c.2652G>A, XM_047435192.1:c.2889G>A, XM_047435197.1:c.2691G>A, XM_047435199.1:c.2664G>A, XM_047435200.1:c.2652G>A, XM_047435201.1:c.2652G>A, XM_047435204.1:c.2652G>A, XM_047435210.1:c.2652G>A, XM_047435191.1:c.2889G>A, XM_047435209.1:c.2664G>A, XM_047435212.1:c.2712G>A, XM_047435216.1:c.2220G>A, XM_047435202.1:c.2889G>A, XM_047435196.1:c.2697G>A, XM_047435198.1:c.2685G>A, XM_047435215.1:c.2652G>A, XM_047435206.1:c.2697G>A, XM_047435207.1:c.2697G>A, XM_047435208.1:c.2685G>A, XM_047435213.1:c.2697G>A, XM_047435214.1:c.2685G>A

                                  17.

                                  rs1483512273 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:7909298 (GRCh38)
                                    17:7812616 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:7909297:G:A
                                    Gene:
                                    CHD3 (Varview)
                                    Functional Consequence:
                                    genic_downstream_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_000017.11:g.7909298G>A, NC_000017.10:g.7812616G>A, XM_005256427.5:c.5730G>A, XM_005256427.4:c.5730G>A, XM_005256427.3:c.5730G>A, XM_005256427.2:c.5730G>A, XM_005256427.1:c.5730G>A, XM_005256429.5:c.5730G>A, XM_005256429.4:c.5730G>A, XM_005256429.3:c.5730G>A, XM_005256429.2:c.5730G>A, XM_005256429.1:c.5730G>A, XM_005256428.5:c.5625G>A, XM_005256428.4:c.5625G>A, XM_005256428.3:c.5625G>A, XM_005256428.2:c.5625G>A, XM_005256428.1:c.5625G>A, XM_006721423.4:c.5727G>A, XM_006721423.3:c.5727G>A, XM_006721423.2:c.5727G>A, XM_006721423.1:c.5727G>A, XM_006721424.4:c.5718G>A, XM_006721424.3:c.5718G>A, XM_006721424.2:c.5718G>A, XM_006721424.1:c.5718G>A, NM_005852.4:c.5448G>A, NM_005852.3:c.5448G>A, XM_006721428.4:c.5625G>A, XM_006721428.3:c.5625G>A, XM_006721428.2:c.5625G>A, XM_006721428.1:c.5625G>A, XM_017024067.3:c.5520G>A, XM_017024067.2:c.5520G>A, XM_017024067.1:c.5520G>A, NM_001005273.3:c.5550G>A, NM_001005273.2:c.5550G>A, NM_001005271.3:c.5727G>A, NM_001005271.2:c.5727G>A, XM_017024066.2:c.5523G>A, XM_017024066.1:c.5493G>A, XM_017024063.2:c.5553G>A, XM_017024063.1:c.5553G>A, XM_017024068.2:c.5493G>A, XM_017024068.1:c.5493G>A, XM_017024064.2:c.5715G>A, XM_017024064.1:c.5715G>A, XM_017024069.2:c.5049G>A, XM_017024069.1:c.5049G>A, XM_017024065.2:c.5526G>A, XM_017024065.1:c.5526G>A, XM_047435193.1:c.5550G>A, XM_047435194.1:c.5541G>A, XM_047435195.1:c.5538G>A, XM_047435190.1:c.5715G>A, XM_047435203.1:c.5541G>A, XM_047435205.1:c.5538G>A, XM_047435211.1:c.5478G>A, XM_047435192.1:c.5718G>A, XM_047435197.1:c.5520G>A, XM_047435199.1:c.5493G>A, XM_047435200.1:c.5481G>A, XM_047435201.1:c.5478G>A, XM_047435204.1:c.5376G>A, XM_047435210.1:c.5481G>A, XM_047435191.1:c.5613G>A, XM_047435209.1:c.5490G>A, XM_047435212.1:c.5436G>A, XM_047435216.1:c.5049G>A, XM_047435202.1:c.5613G>A, XM_047435196.1:c.5523G>A, XM_047435198.1:c.5511G>A, XM_047435215.1:c.5376G>A, XM_047435206.1:c.5526G>A, XM_047435207.1:c.5523G>A, XM_047435208.1:c.5511G>A, XM_047435213.1:c.5421G>A, XM_047435214.1:c.5409G>A

                                    18.

                                    rs1482536453 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:7910904 (GRCh38)
                                      17:7814222 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:7910903:G:A
                                      Gene:
                                      CHD3 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Clinical significance:
                                      likely-pathogenic
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.7910904G>A, NC_000017.10:g.7814222G>A, XM_005256427.5:c.6038G>A, XM_005256427.4:c.6038G>A, XM_005256427.3:c.6038G>A, XM_005256427.2:c.6038G>A, XM_005256427.1:c.6038G>A, XM_005256429.5:c.5992G>A, XM_005256429.4:c.5992G>A, XM_005256429.3:c.5992G>A, XM_005256429.2:c.5992G>A, XM_005256429.1:c.5992G>A, XM_005256428.5:c.5933G>A, XM_005256428.4:c.5933G>A, XM_005256428.3:c.5933G>A, XM_005256428.2:c.5933G>A, XM_005256428.1:c.5933G>A, XM_006721423.4:c.6035G>A, XM_006721423.3:c.6035G>A, XM_006721423.2:c.6035G>A, XM_006721423.1:c.6035G>A, XM_006721424.4:c.6026G>A, XM_006721424.3:c.6026G>A, XM_006721424.2:c.6026G>A, XM_006721424.1:c.6026G>A, NM_005852.4:c.5710G>A, NM_005852.3:c.5710G>A, XM_006721428.4:c.5887G>A, XM_006721428.3:c.5887G>A, XM_006721428.2:c.5887G>A, XM_006721428.1:c.5887G>A, XM_017024067.3:c.5828G>A, XM_017024067.2:c.5828G>A, XM_017024067.1:c.5828G>A, NM_001005273.3:c.5812G>A, NM_001005273.2:c.5812G>A, NM_001005271.3:c.5989G>A, NM_001005271.2:c.5989G>A, XM_017024066.2:c.5831G>A, XM_017024066.1:c.5801G>A, XM_017024063.2:c.5861G>A, XM_017024063.1:c.5861G>A, XM_017024068.2:c.5801G>A, XM_017024068.1:c.5801G>A, XM_017024064.2:c.5977G>A, XM_017024064.1:c.5977G>A, XM_017024069.2:c.5357G>A, XM_017024069.1:c.5357G>A, XM_017024065.2:c.5834G>A, XM_017024065.1:c.5834G>A, XM_047435193.1:c.5858G>A, XM_047435194.1:c.5849G>A, XM_047435195.1:c.5846G>A, XM_047435190.1:c.6023G>A, XM_047435203.1:c.5803G>A, XM_047435205.1:c.5800G>A, XM_047435211.1:c.5740G>A, XM_047435192.1:c.5980G>A, XM_047435197.1:c.5828G>A, XM_047435199.1:c.5801G>A, XM_047435200.1:c.5789G>A, XM_047435201.1:c.5786G>A, XM_047435204.1:c.5684G>A, XM_047435210.1:c.5743G>A, XM_047435191.1:c.5921G>A, XM_047435209.1:c.5752G>A, XM_047435212.1:c.5698G>A, XM_047435216.1:c.5357G>A, XM_047435202.1:c.5875G>A, XM_047435196.1:c.5831G>A, XM_047435198.1:c.5819G>A, XM_047435215.1:c.5638G>A, XM_047435206.1:c.5788G>A, XM_047435207.1:c.5785G>A, XM_047435208.1:c.5773G>A, XM_047435213.1:c.5683G>A, XM_047435214.1:c.5671G>A, XP_005256484.1:p.Arg2013His, XP_005256486.1:p.Ala1998Thr, XP_005256485.1:p.Arg1978His, XP_006721486.1:p.Arg2012His, XP_006721487.1:p.Arg2009His, NP_005843.2:p.Ala1904Thr, XP_006721491.1:p.Ala1963Thr, XP_016879556.1:p.Arg1943His, NP_001005273.1:p.Ala1938Thr, NP_001005271.2:p.Ala1997Thr, XP_016879555.2:p.Arg1944His, XP_016879552.1:p.Arg1954His, XP_016879557.1:p.Arg1934His, XP_016879553.1:p.Ala1993Thr, XP_016879558.1:p.Arg1786His, XP_016879554.1:p.Arg1945His, XP_047291149.1:p.Arg1953His, XP_047291150.1:p.Arg1950His, XP_047291151.1:p.Arg1949His, XP_047291146.1:p.Arg2008His, XP_047291159.1:p.Ala1935Thr, XP_047291161.1:p.Ala1934Thr, XP_047291167.1:p.Ala1914Thr, XP_047291148.1:p.Ala1994Thr, XP_047291153.1:p.Arg1943His, XP_047291155.1:p.Arg1934His, XP_047291156.1:p.Arg1930His, XP_047291157.1:p.Arg1929His, XP_047291160.1:p.Arg1895His, XP_047291166.1:p.Ala1915Thr, XP_047291147.1:p.Arg1974His, XP_047291165.1:p.Ala1918Thr, XP_047291168.1:p.Ala1900Thr, XP_047291172.1:p.Arg1786His, XP_047291158.1:p.Ala1959Thr, XP_047291152.1:p.Arg1944His, XP_047291154.1:p.Arg1940His, XP_047291171.1:p.Ala1880Thr, XP_047291162.1:p.Ala1930Thr, XP_047291163.1:p.Ala1929Thr, XP_047291164.1:p.Ala1925Thr, XP_047291169.1:p.Ala1895Thr, XP_047291170.1:p.Ala1891Thr

                                      19.

                                      rs1481868087 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:7898573 (GRCh38)
                                        17:7801891 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:7898572:C:T
                                        Gene:
                                        CHD3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00004/1 (TOMMO)
                                        HGVS:
                                        NC_000017.11:g.7898573C>T, NC_000017.10:g.7801891C>T, XM_005256427.5:c.2306C>T, XM_005256427.4:c.2306C>T, XM_005256427.3:c.2306C>T, XM_005256427.2:c.2306C>T, XM_005256427.1:c.2306C>T, XM_005256429.5:c.2306C>T, XM_005256429.4:c.2306C>T, XM_005256429.3:c.2306C>T, XM_005256429.2:c.2306C>T, XM_005256429.1:c.2306C>T, XM_005256428.5:c.2306C>T, XM_005256428.4:c.2306C>T, XM_005256428.3:c.2306C>T, XM_005256428.2:c.2306C>T, XM_005256428.1:c.2306C>T, XM_005256431.5:c.2306C>T, XM_005256431.4:c.2306C>T, XM_005256431.3:c.2306C>T, XM_005256431.2:c.2306C>T, XM_005256431.1:c.2306C>T, XM_006721423.4:c.2306C>T, XM_006721423.3:c.2306C>T, XM_006721423.2:c.2306C>T, XM_006721423.1:c.2306C>T, XM_006721424.4:c.2294C>T, XM_006721424.3:c.2294C>T, XM_006721424.2:c.2294C>T, XM_006721424.1:c.2294C>T, NM_005852.4:c.2129C>T, NM_005852.3:c.2129C>T, XM_006721428.4:c.2306C>T, XM_006721428.3:c.2306C>T, XM_006721428.2:c.2306C>T, XM_006721428.1:c.2306C>T, XM_017024067.3:c.2096C>T, XM_017024067.2:c.2096C>T, XM_017024067.1:c.2096C>T, NM_001005273.3:c.2129C>T, NM_001005273.2:c.2129C>T, NM_001005271.3:c.2306C>T, NM_001005271.2:c.2306C>T, XM_017024066.2:c.2099C>T, XM_017024066.1:c.2069C>T, XM_017024063.2:c.2129C>T, XM_017024063.1:c.2129C>T, XM_017024068.2:c.2069C>T, XM_017024068.1:c.2069C>T, XM_017024064.2:c.2294C>T, XM_017024064.1:c.2294C>T, XM_017024069.2:c.1625C>T, XM_017024069.1:c.1625C>T, XM_017024065.2:c.2102C>T, XM_017024065.1:c.2102C>T, XM_047435193.1:c.2129C>T, XM_047435194.1:c.2117C>T, XM_047435195.1:c.2117C>T, XM_047435190.1:c.2294C>T, XM_047435203.1:c.2117C>T, XM_047435205.1:c.2117C>T, XM_047435211.1:c.2057C>T, XM_047435192.1:c.2294C>T, XM_047435197.1:c.2096C>T, XM_047435199.1:c.2069C>T, XM_047435200.1:c.2057C>T, XM_047435201.1:c.2057C>T, XM_047435204.1:c.2057C>T, XM_047435210.1:c.2057C>T, XM_047435191.1:c.2294C>T, XM_047435209.1:c.2069C>T, XM_047435212.1:c.2117C>T, XM_047435216.1:c.1625C>T, XM_047435202.1:c.2294C>T, XM_047435196.1:c.2102C>T, XM_047435198.1:c.2090C>T, XM_047435215.1:c.2057C>T, XM_047435206.1:c.2102C>T, XM_047435207.1:c.2102C>T, XM_047435208.1:c.2090C>T, XM_047435213.1:c.2102C>T, XM_047435214.1:c.2090C>T, XP_005256484.1:p.Pro769Leu, XP_005256486.1:p.Pro769Leu, XP_005256485.1:p.Pro769Leu, XP_005256488.1:p.Pro769Leu, XP_006721486.1:p.Pro769Leu, XP_006721487.1:p.Pro765Leu, NP_005843.2:p.Pro710Leu, XP_006721491.1:p.Pro769Leu, XP_016879556.1:p.Pro699Leu, NP_001005273.1:p.Pro710Leu, NP_001005271.2:p.Pro769Leu, XP_016879555.2:p.Pro700Leu, XP_016879552.1:p.Pro710Leu, XP_016879557.1:p.Pro690Leu, XP_016879553.1:p.Pro765Leu, XP_016879558.1:p.Pro542Leu, XP_016879554.1:p.Pro701Leu, XP_047291149.1:p.Pro710Leu, XP_047291150.1:p.Pro706Leu, XP_047291151.1:p.Pro706Leu, XP_047291146.1:p.Pro765Leu, XP_047291159.1:p.Pro706Leu, XP_047291161.1:p.Pro706Leu, XP_047291167.1:p.Pro686Leu, XP_047291148.1:p.Pro765Leu, XP_047291153.1:p.Pro699Leu, XP_047291155.1:p.Pro690Leu, XP_047291156.1:p.Pro686Leu, XP_047291157.1:p.Pro686Leu, XP_047291160.1:p.Pro686Leu, XP_047291166.1:p.Pro686Leu, XP_047291147.1:p.Pro765Leu, XP_047291165.1:p.Pro690Leu, XP_047291168.1:p.Pro706Leu, XP_047291172.1:p.Pro542Leu, XP_047291158.1:p.Pro765Leu, XP_047291152.1:p.Pro701Leu, XP_047291154.1:p.Pro697Leu, XP_047291171.1:p.Pro686Leu, XP_047291162.1:p.Pro701Leu, XP_047291163.1:p.Pro701Leu, XP_047291164.1:p.Pro697Leu, XP_047291169.1:p.Pro701Leu, XP_047291170.1:p.Pro697Leu

                                        20.

                                        rs1481419677 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:7910503 (GRCh38)
                                          17:7813821 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:7910502:T:C
                                          Gene:
                                          CHD3 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.7910503T>C, NC_000017.10:g.7813821T>C, XM_005256427.5:c.5892T>C, XM_005256427.4:c.5892T>C, XM_005256427.3:c.5892T>C, XM_005256427.2:c.5892T>C, XM_005256427.1:c.5892T>C, XM_005256429.5:c.5846T>C, XM_005256429.4:c.5846T>C, XM_005256429.3:c.5846T>C, XM_005256429.2:c.5846T>C, XM_005256429.1:c.5846T>C, XM_005256428.5:c.5787T>C, XM_005256428.4:c.5787T>C, XM_005256428.3:c.5787T>C, XM_005256428.2:c.5787T>C, XM_005256428.1:c.5787T>C, XM_006721423.4:c.5889T>C, XM_006721423.3:c.5889T>C, XM_006721423.2:c.5889T>C, XM_006721423.1:c.5889T>C, XM_006721424.4:c.5880T>C, XM_006721424.3:c.5880T>C, XM_006721424.2:c.5880T>C, XM_006721424.1:c.5880T>C, NM_005852.4:c.5564T>C, NM_005852.3:c.5564T>C, XM_006721428.4:c.5741T>C, XM_006721428.3:c.5741T>C, XM_006721428.2:c.5741T>C, XM_006721428.1:c.5741T>C, XM_017024067.3:c.5682T>C, XM_017024067.2:c.5682T>C, XM_017024067.1:c.5682T>C, NM_001005273.3:c.5666T>C, NM_001005273.2:c.5666T>C, NM_001005271.3:c.5843T>C, NM_001005271.2:c.5843T>C, XM_017024066.2:c.5685T>C, XM_017024066.1:c.5655T>C, XM_017024063.2:c.5715T>C, XM_017024063.1:c.5715T>C, XM_017024068.2:c.5655T>C, XM_017024068.1:c.5655T>C, XM_017024064.2:c.5831T>C, XM_017024064.1:c.5831T>C, XM_017024069.2:c.5211T>C, XM_017024069.1:c.5211T>C, XM_017024065.2:c.5688T>C, XM_017024065.1:c.5688T>C, XM_047435193.1:c.5712T>C, XM_047435194.1:c.5703T>C, XM_047435195.1:c.5700T>C, XM_047435190.1:c.5877T>C, XM_047435203.1:c.5657T>C, XM_047435205.1:c.5654T>C, XM_047435211.1:c.5594T>C, XM_047435192.1:c.5834T>C, XM_047435197.1:c.5682T>C, XM_047435199.1:c.5655T>C, XM_047435200.1:c.5643T>C, XM_047435201.1:c.5640T>C, XM_047435204.1:c.5538T>C, XM_047435210.1:c.5597T>C, XM_047435191.1:c.5775T>C, XM_047435209.1:c.5606T>C, XM_047435212.1:c.5552T>C, XM_047435216.1:c.5211T>C, XM_047435202.1:c.5729T>C, XM_047435196.1:c.5685T>C, XM_047435198.1:c.5673T>C, XM_047435215.1:c.5492T>C, XM_047435206.1:c.5642T>C, XM_047435207.1:c.5639T>C, XM_047435208.1:c.5627T>C, XM_047435213.1:c.5537T>C, XM_047435214.1:c.5525T>C, XP_005256486.1:p.Ile1949Thr, NP_005843.2:p.Ile1855Thr, XP_006721491.1:p.Ile1914Thr, NP_001005273.1:p.Ile1889Thr, NP_001005271.2:p.Ile1948Thr, XP_016879553.1:p.Ile1944Thr, XP_047291159.1:p.Ile1886Thr, XP_047291161.1:p.Ile1885Thr, XP_047291167.1:p.Ile1865Thr, XP_047291148.1:p.Ile1945Thr, XP_047291166.1:p.Ile1866Thr, XP_047291165.1:p.Ile1869Thr, XP_047291168.1:p.Ile1851Thr, XP_047291158.1:p.Ile1910Thr, XP_047291171.1:p.Ile1831Thr, XP_047291162.1:p.Ile1881Thr, XP_047291163.1:p.Ile1880Thr, XP_047291164.1:p.Ile1876Thr, XP_047291169.1:p.Ile1846Thr, XP_047291170.1:p.Ile1842Thr

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