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Items: 1 to 20 of 1000

1.

rs1489342176 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:6825172 (GRCh38)
    1:6885232 (GRCh37)
    Canonical SPDI:
    NC_000001.11:6825171:A:G
    Gene:
    CAMTA1 (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.6825172A>G, NC_000001.10:g.6885232A>G, NG_053148.1:g.44849A>G, NM_015215.4:c.196A>G, NM_015215.3:c.196A>G, NM_015215.2:c.196A>G, NM_001349608.2:c.106A>G, NM_001349608.1:c.106A>G, NM_001349610.2:c.196A>G, NM_001349610.1:c.196A>G, NM_001349609.2:c.196A>G, NM_001349609.1:c.196A>G, NM_001349612.2:c.106A>G, NM_001349612.1:c.106A>G, NR_146203.2:n.203A>G, NR_146203.1:n.333A>G, NR_146202.2:n.203A>G, NR_146202.1:n.333A>G, NR_038934.2:n.203A>G, NR_038934.1:n.333A>G, NM_001242701.2:c.196A>G, NM_001242701.1:c.196A>G, NM_001349627.2:c.232A>G, NM_001349627.1:c.232A>G, NM_001195563.2:c.196A>G, NM_001195563.1:c.196A>G, NR_146204.2:n.203A>G, NR_146204.1:n.333A>G, NM_001410737.1:c.196A>G, NM_001410738.1:c.196A>G, XM_011541086.4:c.196A>G, XM_011541086.3:c.196A>G, XM_011541086.2:c.196A>G, XM_011541086.1:c.196A>G, XM_011541090.4:c.196A>G, XM_011541090.3:c.196A>G, XM_011541090.2:c.196A>G, XM_011541090.1:c.196A>G, XM_011541092.4:c.196A>G, XM_011541092.3:c.196A>G, XM_011541092.2:c.196A>G, XM_011541092.1:c.196A>G, XM_011541084.3:c.196A>G, XM_011541084.2:c.196A>G, XM_011541084.1:c.196A>G, XM_011541083.3:c.196A>G, XM_011541083.2:c.196A>G, XM_011541083.1:c.196A>G, XM_011541088.3:c.106A>G, XM_011541088.2:c.106A>G, XM_011541088.1:c.106A>G, XM_011541087.3:c.196A>G, XM_011541087.2:c.196A>G, XM_011541087.1:c.196A>G, XM_017000774.3:c.196A>G, XM_017000774.2:c.196A>G, XM_017000774.1:c.196A>G, XM_011541091.3:c.196A>G, XM_011541091.2:c.196A>G, XM_011541091.1:c.196A>G, XM_017000780.3:c.196A>G, XM_017000780.2:c.196A>G, XM_017000780.1:c.196A>G, XR_001737064.2:n.273A>G, XR_001737064.1:n.267A>G, XM_017000778.2:c.196A>G, XM_017000778.1:c.196A>G, XM_017000777.2:c.196A>G, XM_017000781.2:c.196A>G, XM_017000781.1:c.196A>G, XR_001737062.2:n.273A>G, XR_001737062.1:n.267A>G, XM_047415988.1:c.184A>G, XM_047416009.1:c.-123A>G, XM_047415999.1:c.106A>G, XM_047415997.1:c.196A>G, XM_047416005.1:c.106A>G, XM_047416020.1:c.196A>G, XM_047416024.1:c.106A>G, XM_047415993.1:c.196A>G, NM_001349628.1:c.196A>G, XR_007057950.1:n.273A>G, NP_056030.1:p.Ser66Gly, NP_001336537.1:p.Ser36Gly, NP_001336539.1:p.Ser66Gly, NP_001336538.1:p.Ser66Gly, NP_001336541.1:p.Ser36Gly, NP_001229630.1:p.Ser66Gly, NP_001336556.1:p.Ser78Gly, NP_001182492.1:p.Ser66Gly, XP_011539388.1:p.Ser66Gly, XP_011539392.1:p.Ser66Gly, XP_011539394.1:p.Ser66Gly, XP_011539386.1:p.Ser66Gly, XP_011539385.1:p.Ser66Gly, XP_011539390.1:p.Ser36Gly, XP_011539389.1:p.Ser66Gly, XP_016856263.1:p.Ser66Gly, XP_011539393.1:p.Ser66Gly, XP_016856269.1:p.Ser66Gly, XP_016856267.1:p.Ser66Gly, XP_016856266.1:p.Ser66Gly, XP_016856270.1:p.Ser66Gly, XP_047271944.1:p.Ser62Gly, XP_047271955.1:p.Ser36Gly, XP_047271953.1:p.Ser66Gly, XP_047271961.1:p.Ser36Gly, XP_047271976.1:p.Ser66Gly, XP_047271980.1:p.Ser36Gly, XP_047271949.1:p.Ser66Gly

    2.

    rs1489151504 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:7738208 (GRCh38)
      1:7798268 (GRCh37)
      Canonical SPDI:
      NC_000001.11:7738207:C:G,NC_000001.11:7738207:C:T
      Gene:
      CAMTA1 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000111/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.7738208C>G, NC_000001.11:g.7738208C>T, NC_000001.10:g.7798268C>G, NC_000001.10:g.7798268C>T, NG_053148.1:g.957885C>G, NG_053148.1:g.957885C>T, NM_015215.4:c.3908C>G, NM_015215.4:c.3908C>T, NM_015215.3:c.3908C>G, NM_015215.3:c.3908C>T, NM_015215.2:c.3908C>G, NM_015215.2:c.3908C>T, NM_001349608.2:c.3818C>G, NM_001349608.2:c.3818C>T, NM_001349608.1:c.3818C>G, NM_001349608.1:c.3818C>T, NM_001349616.2:c.980C>G, NM_001349616.2:c.980C>T, NM_001349616.1:c.980C>G, NM_001349616.1:c.980C>T, NM_001349618.2:c.980C>G, NM_001349618.2:c.980C>T, NM_001349618.1:c.980C>G, NM_001349618.1:c.980C>T, NM_001349615.2:c.980C>G, NM_001349615.2:c.980C>T, NM_001349615.1:c.980C>G, NM_001349615.1:c.980C>T, NM_001349614.1:c.980C>G, NM_001349614.1:c.980C>T, NM_001349617.1:c.980C>G, NM_001349617.1:c.980C>T, NM_001349613.1:c.1037C>G, NM_001349613.1:c.1037C>T, NG_081927.1:g.343C>G, NG_081927.1:g.343C>T, XM_011541086.4:c.3908C>G, XM_011541086.4:c.3908C>T, XM_011541086.3:c.3908C>G, XM_011541086.3:c.3908C>T, XM_011541086.2:c.3908C>G, XM_011541086.2:c.3908C>T, XM_011541086.1:c.3908C>G, XM_011541086.1:c.3908C>T, XM_011541084.3:c.3908C>G, XM_011541084.3:c.3908C>T, XM_011541084.2:c.3908C>G, XM_011541084.2:c.3908C>T, XM_011541084.1:c.3908C>G, XM_011541084.1:c.3908C>T, XM_011541083.3:c.3908C>G, XM_011541083.3:c.3908C>T, XM_011541083.2:c.3908C>G, XM_011541083.2:c.3908C>T, XM_011541083.1:c.3908C>G, XM_011541083.1:c.3908C>T, XM_011541088.3:c.3818C>G, XM_011541088.3:c.3818C>T, XM_011541088.2:c.3818C>G, XM_011541088.2:c.3818C>T, XM_011541088.1:c.3818C>G, XM_011541088.1:c.3818C>T, XM_011541087.3:c.3836C>G, XM_011541087.3:c.3836C>T, XM_011541087.2:c.3836C>G, XM_011541087.2:c.3836C>T, XM_011541087.1:c.3836C>G, XM_011541087.1:c.3836C>T, XM_017000774.3:c.3908C>G, XM_017000774.3:c.3908C>T, XM_017000774.2:c.3908C>G, XM_017000774.2:c.3908C>T, XM_017000774.1:c.3908C>G, XM_017000774.1:c.3908C>T, XM_024454331.2:c.980C>G, XM_024454331.2:c.980C>T, XM_024454331.1:c.980C>G, XM_024454331.1:c.980C>T, XM_024454333.2:c.980C>G, XM_024454333.2:c.980C>T, XM_024454333.1:c.980C>G, XM_024454333.1:c.980C>T, XM_024454329.2:c.1169C>G, XM_024454329.2:c.1169C>T, XM_024454329.1:c.1169C>G, XM_024454329.1:c.1169C>T, XM_024454330.2:c.1169C>G, XM_024454330.2:c.1169C>T, XM_024454330.1:c.1169C>G, XM_024454330.1:c.1169C>T, XM_024454332.2:c.980C>G, XM_024454332.2:c.980C>T, XM_024454332.1:c.980C>G, XM_024454332.1:c.980C>T, XM_047415988.1:c.3896C>G, XM_047415988.1:c.3896C>T, XM_047416009.1:c.3590C>G, XM_047416009.1:c.3590C>T, XM_047415999.1:c.3818C>G, XM_047415999.1:c.3818C>T, XM_047415997.1:c.3836C>G, XM_047415997.1:c.3836C>T, XM_047416005.1:c.3746C>G, XM_047416005.1:c.3746C>T, XM_047415993.1:c.3908C>G, XM_047415993.1:c.3908C>T, XM_024454334.1:c.980C>G, XM_024454334.1:c.980C>T, NP_056030.1:p.Pro1303Arg, NP_056030.1:p.Pro1303Leu, NP_001336537.1:p.Pro1273Arg, NP_001336537.1:p.Pro1273Leu, NP_001336545.1:p.Pro327Arg, NP_001336545.1:p.Pro327Leu, NP_001336547.1:p.Pro327Arg, NP_001336547.1:p.Pro327Leu, NP_001336544.1:p.Pro327Arg, NP_001336544.1:p.Pro327Leu, NP_001336543.1:p.Pro327Arg, NP_001336543.1:p.Pro327Leu, NP_001336546.1:p.Pro327Arg, NP_001336546.1:p.Pro327Leu, NP_001336542.1:p.Pro346Arg, NP_001336542.1:p.Pro346Leu, XP_011539388.1:p.Pro1303Arg, XP_011539388.1:p.Pro1303Leu, XP_011539386.1:p.Pro1303Arg, XP_011539386.1:p.Pro1303Leu, XP_011539385.1:p.Pro1303Arg, XP_011539385.1:p.Pro1303Leu, XP_011539390.1:p.Pro1273Arg, XP_011539390.1:p.Pro1273Leu, XP_011539389.1:p.Pro1279Arg, XP_011539389.1:p.Pro1279Leu, XP_016856263.1:p.Pro1303Arg, XP_016856263.1:p.Pro1303Leu, XP_024310099.1:p.Pro327Arg, XP_024310099.1:p.Pro327Leu, XP_024310101.1:p.Pro327Arg, XP_024310101.1:p.Pro327Leu, XP_024310097.1:p.Pro390Arg, XP_024310097.1:p.Pro390Leu, XP_024310098.1:p.Pro390Arg, XP_024310098.1:p.Pro390Leu, XP_024310100.1:p.Pro327Arg, XP_024310100.1:p.Pro327Leu, XP_047271944.1:p.Pro1299Arg, XP_047271944.1:p.Pro1299Leu, XP_047271965.1:p.Pro1197Arg, XP_047271965.1:p.Pro1197Leu, XP_047271955.1:p.Pro1273Arg, XP_047271955.1:p.Pro1273Leu, XP_047271953.1:p.Pro1279Arg, XP_047271953.1:p.Pro1279Leu, XP_047271961.1:p.Pro1249Arg, XP_047271961.1:p.Pro1249Leu, XP_047271949.1:p.Pro1303Arg, XP_047271949.1:p.Pro1303Leu, XP_024310102.1:p.Pro327Arg, XP_024310102.1:p.Pro327Leu

      3.

      rs1488862596 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:7747748 (GRCh38)
        1:7807808 (GRCh37)
        Canonical SPDI:
        NC_000001.11:7747747:T:C
        Gene:
        CAMTA1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000015/4 (TOPMED)
        HGVS:
        NC_000001.11:g.7747748T>C, NC_000001.10:g.7807808T>C, NG_053148.1:g.967425T>C, NM_015215.4:c.4656T>C, NM_015215.3:c.4656T>C, NM_015215.2:c.4656T>C, NM_001349624.3:c.1389T>C, NM_001349624.2:c.1389T>C, NM_001349624.1:c.1389T>C, NM_001349608.2:c.4566T>C, NM_001349608.1:c.4566T>C, NM_001349610.2:c.4317T>C, NM_001349610.1:c.4317T>C, NM_001349609.2:c.4317T>C, NM_001349609.1:c.4317T>C, NM_001349612.2:c.4227T>C, NM_001349612.1:c.4227T>C, NM_001349616.2:c.1728T>C, NM_001349616.1:c.1728T>C, NM_001349618.2:c.1728T>C, NM_001349618.1:c.1728T>C, NM_001349615.2:c.1728T>C, NM_001349615.1:c.1728T>C, NM_001349625.2:c.1389T>C, NM_001349625.1:c.1389T>C, NM_001349619.2:c.1389T>C, NM_001349619.1:c.1389T>C, NM_001349626.2:c.1389T>C, NM_001349626.1:c.1389T>C, NM_001349622.2:c.1389T>C, NM_001349622.1:c.1389T>C, NM_001410737.1:c.4317T>C, NM_001410738.1:c.4245T>C, NM_001349614.1:c.1728T>C, NM_001349617.1:c.1728T>C, NM_001349613.1:c.1785T>C, NM_001349620.1:c.1389T>C, NM_001349621.1:c.1389T>C, NM_001349623.1:c.1389T>C, XM_011541086.4:c.4656T>C, XM_011541086.3:c.4656T>C, XM_011541086.2:c.4656T>C, XM_011541086.1:c.4656T>C, XM_011541090.4:c.4317T>C, XM_011541090.3:c.4317T>C, XM_011541090.2:c.4317T>C, XM_011541090.1:c.4317T>C, XM_011541084.3:c.4656T>C, XM_011541084.2:c.4656T>C, XM_011541084.1:c.4656T>C, XM_011541083.3:c.4656T>C, XM_011541083.2:c.4656T>C, XM_011541083.1:c.4656T>C, XM_011541088.3:c.4566T>C, XM_011541088.2:c.4566T>C, XM_011541088.1:c.4566T>C, XM_011541087.3:c.4584T>C, XM_011541087.2:c.4584T>C, XM_011541087.1:c.4584T>C, XM_017000774.3:c.4656T>C, XM_017000774.2:c.4656T>C, XM_017000774.1:c.4656T>C, XM_024454331.2:c.1728T>C, XM_024454331.1:c.1728T>C, XM_017000778.2:c.4317T>C, XM_017000778.1:c.4317T>C, XM_017000777.2:c.4317T>C, XM_024454333.2:c.1728T>C, XM_024454333.1:c.1728T>C, XM_024454329.2:c.1917T>C, XM_024454329.1:c.1917T>C, XM_024454330.2:c.1917T>C, XM_024454330.1:c.1917T>C, XM_024454332.2:c.1728T>C, XM_024454332.1:c.1728T>C, XM_047415988.1:c.4644T>C, XM_047416009.1:c.4338T>C, XM_047415999.1:c.4566T>C, XM_047415997.1:c.4584T>C, XM_047416005.1:c.4494T>C, XM_047416020.1:c.4245T>C, XM_047416024.1:c.4155T>C, XM_047415993.1:c.4656T>C, XM_024454334.1:c.1728T>C

        4.

        rs1488851879 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:7744938 (GRCh38)
          1:7804998 (GRCh37)
          Canonical SPDI:
          NC_000001.11:7744937:A:C
          Gene:
          CAMTA1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.0104/19 (Korea1K)
          HGVS:
          NC_000001.11:g.7744938A>C, NC_000001.10:g.7804998A>C, NG_053148.1:g.964615A>C, NM_015215.4:c.4286A>C, NM_015215.3:c.4286A>C, NM_015215.2:c.4286A>C, NM_001349624.3:c.1019A>C, NM_001349624.2:c.1019A>C, NM_001349624.1:c.1019A>C, NM_001349608.2:c.4196A>C, NM_001349608.1:c.4196A>C, NM_001349610.2:c.3947A>C, NM_001349610.1:c.3947A>C, NM_001349609.2:c.3947A>C, NM_001349609.1:c.3947A>C, NM_001349612.2:c.3857A>C, NM_001349612.1:c.3857A>C, NM_001349616.2:c.1358A>C, NM_001349616.1:c.1358A>C, NM_001349618.2:c.1358A>C, NM_001349618.1:c.1358A>C, NM_001349615.2:c.1358A>C, NM_001349615.1:c.1358A>C, NM_001349625.2:c.1019A>C, NM_001349625.1:c.1019A>C, NM_001349619.2:c.1019A>C, NM_001349619.1:c.1019A>C, NM_001349626.2:c.1019A>C, NM_001349626.1:c.1019A>C, NM_001349622.2:c.1019A>C, NM_001349622.1:c.1019A>C, NM_001410737.1:c.3947A>C, NM_001410738.1:c.3875A>C, NM_001349614.1:c.1358A>C, NM_001349617.1:c.1358A>C, NM_001349613.1:c.1415A>C, NM_001349620.1:c.1019A>C, NM_001349621.1:c.1019A>C, NM_001349623.1:c.1019A>C, XM_011541086.4:c.4286A>C, XM_011541086.3:c.4286A>C, XM_011541086.2:c.4286A>C, XM_011541086.1:c.4286A>C, XM_011541090.4:c.3947A>C, XM_011541090.3:c.3947A>C, XM_011541090.2:c.3947A>C, XM_011541090.1:c.3947A>C, XM_011541084.3:c.4286A>C, XM_011541084.2:c.4286A>C, XM_011541084.1:c.4286A>C, XM_011541083.3:c.4286A>C, XM_011541083.2:c.4286A>C, XM_011541083.1:c.4286A>C, XM_011541088.3:c.4196A>C, XM_011541088.2:c.4196A>C, XM_011541088.1:c.4196A>C, XM_011541087.3:c.4214A>C, XM_011541087.2:c.4214A>C, XM_011541087.1:c.4214A>C, XM_017000774.3:c.4286A>C, XM_017000774.2:c.4286A>C, XM_017000774.1:c.4286A>C, XM_024454331.2:c.1358A>C, XM_024454331.1:c.1358A>C, XM_017000778.2:c.3947A>C, XM_017000778.1:c.3947A>C, XM_017000777.2:c.3947A>C, XM_024454333.2:c.1358A>C, XM_024454333.1:c.1358A>C, XM_024454329.2:c.1547A>C, XM_024454329.1:c.1547A>C, XM_024454330.2:c.1547A>C, XM_024454330.1:c.1547A>C, XM_024454332.2:c.1358A>C, XM_024454332.1:c.1358A>C, XM_047415988.1:c.4274A>C, XM_047416009.1:c.3968A>C, XM_047415999.1:c.4196A>C, XM_047415997.1:c.4214A>C, XM_047416005.1:c.4124A>C, XM_047416020.1:c.3875A>C, XM_047416024.1:c.3785A>C, XM_047415993.1:c.4286A>C, XM_024454334.1:c.1358A>C, NP_056030.1:p.Asp1429Ala, NP_001336553.1:p.Asp340Ala, NP_001336537.1:p.Asp1399Ala, NP_001336539.1:p.Asp1316Ala, NP_001336538.1:p.Asp1316Ala, NP_001336541.1:p.Asp1286Ala, NP_001336545.1:p.Asp453Ala, NP_001336547.1:p.Asp453Ala, NP_001336544.1:p.Asp453Ala, NP_001336554.1:p.Asp340Ala, NP_001336548.1:p.Asp340Ala, NP_001336555.1:p.Asp340Ala, NP_001336551.1:p.Asp340Ala, NP_001336543.1:p.Asp453Ala, NP_001336546.1:p.Asp453Ala, NP_001336542.1:p.Asp472Ala, NP_001336549.1:p.Asp340Ala, NP_001336550.1:p.Asp340Ala, NP_001336552.1:p.Asp340Ala, XP_011539388.1:p.Asp1429Ala, XP_011539392.1:p.Asp1316Ala, XP_011539386.1:p.Asp1429Ala, XP_011539385.1:p.Asp1429Ala, XP_011539390.1:p.Asp1399Ala, XP_011539389.1:p.Asp1405Ala, XP_016856263.1:p.Asp1429Ala, XP_024310099.1:p.Asp453Ala, XP_016856267.1:p.Asp1316Ala, XP_016856266.1:p.Asp1316Ala, XP_024310101.1:p.Asp453Ala, XP_024310097.1:p.Asp516Ala, XP_024310098.1:p.Asp516Ala, XP_024310100.1:p.Asp453Ala, XP_047271944.1:p.Asp1425Ala, XP_047271965.1:p.Asp1323Ala, XP_047271955.1:p.Asp1399Ala, XP_047271953.1:p.Asp1405Ala, XP_047271961.1:p.Asp1375Ala, XP_047271976.1:p.Asp1292Ala, XP_047271980.1:p.Asp1262Ala, XP_047271949.1:p.Asp1429Ala, XP_024310102.1:p.Asp453Ala

          5.

          rs1487331062 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:7738346 (GRCh38)
            1:7798406 (GRCh37)
            Canonical SPDI:
            NC_000001.11:7738345:C:T
            Gene:
            CAMTA1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.7738346C>T, NC_000001.10:g.7798406C>T, NG_053148.1:g.958023C>T, NM_015215.4:c.4046C>T, NM_015215.3:c.4046C>T, NM_015215.2:c.4046C>T, NM_001349624.3:c.779C>T, NM_001349624.2:c.779C>T, NM_001349624.1:c.779C>T, NM_001349608.2:c.3956C>T, NM_001349608.1:c.3956C>T, NM_001349610.2:c.3707C>T, NM_001349610.1:c.3707C>T, NM_001349609.2:c.3707C>T, NM_001349609.1:c.3707C>T, NM_001349612.2:c.3617C>T, NM_001349612.1:c.3617C>T, NM_001349616.2:c.1118C>T, NM_001349616.1:c.1118C>T, NM_001349618.2:c.1118C>T, NM_001349618.1:c.1118C>T, NM_001349615.2:c.1118C>T, NM_001349615.1:c.1118C>T, NM_001349625.2:c.779C>T, NM_001349625.1:c.779C>T, NM_001349619.2:c.779C>T, NM_001349619.1:c.779C>T, NM_001349626.2:c.779C>T, NM_001349626.1:c.779C>T, NM_001349622.2:c.779C>T, NM_001349622.1:c.779C>T, NM_001410737.1:c.3707C>T, NM_001410738.1:c.3635C>T, NM_001349614.1:c.1118C>T, NM_001349617.1:c.1118C>T, NM_001349613.1:c.1175C>T, NM_001349620.1:c.779C>T, NM_001349621.1:c.779C>T, NM_001349623.1:c.779C>T, NG_081927.1:g.481C>T, XM_011541086.4:c.4046C>T, XM_011541086.3:c.4046C>T, XM_011541086.2:c.4046C>T, XM_011541086.1:c.4046C>T, XM_011541090.4:c.3707C>T, XM_011541090.3:c.3707C>T, XM_011541090.2:c.3707C>T, XM_011541090.1:c.3707C>T, XM_011541084.3:c.4046C>T, XM_011541084.2:c.4046C>T, XM_011541084.1:c.4046C>T, XM_011541083.3:c.4046C>T, XM_011541083.2:c.4046C>T, XM_011541083.1:c.4046C>T, XM_011541088.3:c.3956C>T, XM_011541088.2:c.3956C>T, XM_011541088.1:c.3956C>T, XM_011541087.3:c.3974C>T, XM_011541087.2:c.3974C>T, XM_011541087.1:c.3974C>T, XM_017000774.3:c.4046C>T, XM_017000774.2:c.4046C>T, XM_017000774.1:c.4046C>T, XM_024454331.2:c.1118C>T, XM_024454331.1:c.1118C>T, XM_017000778.2:c.3707C>T, XM_017000778.1:c.3707C>T, XM_017000777.2:c.3707C>T, XM_024454333.2:c.1118C>T, XM_024454333.1:c.1118C>T, XM_024454329.2:c.1307C>T, XM_024454329.1:c.1307C>T, XM_024454330.2:c.1307C>T, XM_024454330.1:c.1307C>T, XM_024454332.2:c.1118C>T, XM_024454332.1:c.1118C>T, XM_047415988.1:c.4034C>T, XM_047416009.1:c.3728C>T, XM_047415999.1:c.3956C>T, XM_047415997.1:c.3974C>T, XM_047416005.1:c.3884C>T, XM_047416020.1:c.3635C>T, XM_047416024.1:c.3545C>T, XM_047415993.1:c.4046C>T, XM_024454334.1:c.1118C>T, NP_056030.1:p.Ala1349Val, NP_001336553.1:p.Ala260Val, NP_001336537.1:p.Ala1319Val, NP_001336539.1:p.Ala1236Val, NP_001336538.1:p.Ala1236Val, NP_001336541.1:p.Ala1206Val, NP_001336545.1:p.Ala373Val, NP_001336547.1:p.Ala373Val, NP_001336544.1:p.Ala373Val, NP_001336554.1:p.Ala260Val, NP_001336548.1:p.Ala260Val, NP_001336555.1:p.Ala260Val, NP_001336551.1:p.Ala260Val, NP_001336543.1:p.Ala373Val, NP_001336546.1:p.Ala373Val, NP_001336542.1:p.Ala392Val, NP_001336549.1:p.Ala260Val, NP_001336550.1:p.Ala260Val, NP_001336552.1:p.Ala260Val, XP_011539388.1:p.Ala1349Val, XP_011539392.1:p.Ala1236Val, XP_011539386.1:p.Ala1349Val, XP_011539385.1:p.Ala1349Val, XP_011539390.1:p.Ala1319Val, XP_011539389.1:p.Ala1325Val, XP_016856263.1:p.Ala1349Val, XP_024310099.1:p.Ala373Val, XP_016856267.1:p.Ala1236Val, XP_016856266.1:p.Ala1236Val, XP_024310101.1:p.Ala373Val, XP_024310097.1:p.Ala436Val, XP_024310098.1:p.Ala436Val, XP_024310100.1:p.Ala373Val, XP_047271944.1:p.Ala1345Val, XP_047271965.1:p.Ala1243Val, XP_047271955.1:p.Ala1319Val, XP_047271953.1:p.Ala1325Val, XP_047271961.1:p.Ala1295Val, XP_047271976.1:p.Ala1212Val, XP_047271980.1:p.Ala1182Val, XP_047271949.1:p.Ala1349Val, XP_024310102.1:p.Ala373Val

            6.

            rs1485880993 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              1:7745872 (GRCh38)
              1:7805932 (GRCh37)
              Canonical SPDI:
              NC_000001.11:7745871:T:A
              Gene:
              CAMTA1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.7745872T>A, NC_000001.10:g.7805932T>A, NG_053148.1:g.965549T>A, NM_015215.4:c.4398T>A, NM_015215.3:c.4398T>A, NM_015215.2:c.4398T>A, NM_001349624.3:c.1131T>A, NM_001349624.2:c.1131T>A, NM_001349624.1:c.1131T>A, NM_001349608.2:c.4308T>A, NM_001349608.1:c.4308T>A, NM_001349610.2:c.4059T>A, NM_001349610.1:c.4059T>A, NM_001349609.2:c.4059T>A, NM_001349609.1:c.4059T>A, NM_001349612.2:c.3969T>A, NM_001349612.1:c.3969T>A, NM_001349616.2:c.1470T>A, NM_001349616.1:c.1470T>A, NM_001349618.2:c.1470T>A, NM_001349618.1:c.1470T>A, NM_001349615.2:c.1470T>A, NM_001349615.1:c.1470T>A, NM_001349625.2:c.1131T>A, NM_001349625.1:c.1131T>A, NM_001349619.2:c.1131T>A, NM_001349619.1:c.1131T>A, NM_001349626.2:c.1131T>A, NM_001349626.1:c.1131T>A, NM_001349622.2:c.1131T>A, NM_001349622.1:c.1131T>A, NM_001410737.1:c.4059T>A, NM_001410738.1:c.3987T>A, NM_001349614.1:c.1470T>A, NM_001349617.1:c.1470T>A, NM_001349613.1:c.1527T>A, NM_001349620.1:c.1131T>A, NM_001349621.1:c.1131T>A, NM_001349623.1:c.1131T>A, XM_011541086.4:c.4398T>A, XM_011541086.3:c.4398T>A, XM_011541086.2:c.4398T>A, XM_011541086.1:c.4398T>A, XM_011541090.4:c.4059T>A, XM_011541090.3:c.4059T>A, XM_011541090.2:c.4059T>A, XM_011541090.1:c.4059T>A, XM_011541084.3:c.4398T>A, XM_011541084.2:c.4398T>A, XM_011541084.1:c.4398T>A, XM_011541083.3:c.4398T>A, XM_011541083.2:c.4398T>A, XM_011541083.1:c.4398T>A, XM_011541088.3:c.4308T>A, XM_011541088.2:c.4308T>A, XM_011541088.1:c.4308T>A, XM_011541087.3:c.4326T>A, XM_011541087.2:c.4326T>A, XM_011541087.1:c.4326T>A, XM_017000774.3:c.4398T>A, XM_017000774.2:c.4398T>A, XM_017000774.1:c.4398T>A, XM_024454331.2:c.1470T>A, XM_024454331.1:c.1470T>A, XM_017000778.2:c.4059T>A, XM_017000778.1:c.4059T>A, XM_017000777.2:c.4059T>A, XM_024454333.2:c.1470T>A, XM_024454333.1:c.1470T>A, XM_024454329.2:c.1659T>A, XM_024454329.1:c.1659T>A, XM_024454330.2:c.1659T>A, XM_024454330.1:c.1659T>A, XM_024454332.2:c.1470T>A, XM_024454332.1:c.1470T>A, XM_047415988.1:c.4386T>A, XM_047416009.1:c.4080T>A, XM_047415999.1:c.4308T>A, XM_047415997.1:c.4326T>A, XM_047416005.1:c.4236T>A, XM_047416020.1:c.3987T>A, XM_047416024.1:c.3897T>A, XM_047415993.1:c.4398T>A, XM_024454334.1:c.1470T>A

              7.

              rs1485778259 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                1:7751379 (GRCh38)
                1:7811439 (GRCh37)
                Canonical SPDI:
                NC_000001.11:7751378:C:A,NC_000001.11:7751378:C:T
                Gene:
                CAMTA1 (Varview)
                Functional Consequence:
                stop_gained,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Clinical significance:
                likely-pathogenic
                HGVS:
                NC_000001.11:g.7751379C>A, NC_000001.11:g.7751379C>T, NC_000001.10:g.7811439C>A, NC_000001.10:g.7811439C>T, NG_053148.1:g.971056C>A, NG_053148.1:g.971056C>T, NM_015215.4:c.4870C>A, NM_015215.4:c.4870C>T, NM_015215.3:c.4870C>A, NM_015215.3:c.4870C>T, NM_015215.2:c.4870C>A, NM_015215.2:c.4870C>T, NM_001349624.3:c.1603C>A, NM_001349624.3:c.1603C>T, NM_001349624.2:c.1603C>A, NM_001349624.2:c.1603C>T, NM_001349624.1:c.1603C>A, NM_001349624.1:c.1603C>T, NM_001349608.2:c.4780C>A, NM_001349608.2:c.4780C>T, NM_001349608.1:c.4780C>A, NM_001349608.1:c.4780C>T, NM_001349610.2:c.4552C>A, NM_001349610.2:c.4552C>T, NM_001349610.1:c.4552C>A, NM_001349610.1:c.4552C>T, NM_001349609.2:c.4552C>A, NM_001349609.2:c.4552C>T, NM_001349609.1:c.4552C>A, NM_001349609.1:c.4552C>T, NM_001349612.2:c.4462C>A, NM_001349612.2:c.4462C>T, NM_001349612.1:c.4462C>A, NM_001349612.1:c.4462C>T, NM_001349616.2:c.1963C>A, NM_001349616.2:c.1963C>T, NM_001349616.1:c.1963C>A, NM_001349616.1:c.1963C>T, NM_001349618.2:c.1942C>A, NM_001349618.2:c.1942C>T, NM_001349618.1:c.1942C>A, NM_001349618.1:c.1942C>T, NM_001349615.2:c.1963C>A, NM_001349615.2:c.1963C>T, NM_001349615.1:c.1963C>A, NM_001349615.1:c.1963C>T, NM_001349625.2:c.1603C>A, NM_001349625.2:c.1603C>T, NM_001349625.1:c.1603C>A, NM_001349625.1:c.1603C>T, NM_001349619.2:c.1624C>A, NM_001349619.2:c.1624C>T, NM_001349619.1:c.1624C>A, NM_001349619.1:c.1624C>T, NM_001349626.2:c.1603C>A, NM_001349626.2:c.1603C>T, NM_001349626.1:c.1603C>A, NM_001349626.1:c.1603C>T, NM_001349622.2:c.1624C>A, NM_001349622.2:c.1624C>T, NM_001349622.1:c.1624C>A, NM_001349622.1:c.1624C>T, NM_001410737.1:c.4531C>A, NM_001410737.1:c.4531C>T, NM_001410738.1:c.4459C>A, NM_001410738.1:c.4459C>T, NM_001349614.1:c.1963C>A, NM_001349614.1:c.1963C>T, NM_001349617.1:c.1942C>A, NM_001349617.1:c.1942C>T, NM_001349613.1:c.1999C>A, NM_001349613.1:c.1999C>T, NM_001349620.1:c.1624C>A, NM_001349620.1:c.1624C>T, NM_001349621.1:c.1624C>A, NM_001349621.1:c.1624C>T, NM_001349623.1:c.1603C>A, NM_001349623.1:c.1603C>T, XM_011541086.4:c.4870C>A, XM_011541086.4:c.4870C>T, XM_011541086.3:c.4870C>A, XM_011541086.3:c.4870C>T, XM_011541086.2:c.4870C>A, XM_011541086.2:c.4870C>T, XM_011541086.1:c.4870C>A, XM_011541086.1:c.4870C>T, XM_011541090.4:c.4552C>A, XM_011541090.4:c.4552C>T, XM_011541090.3:c.4552C>A, XM_011541090.3:c.4552C>T, XM_011541090.2:c.4552C>A, XM_011541090.2:c.4552C>T, XM_011541090.1:c.4552C>A, XM_011541090.1:c.4552C>T, XM_011541084.3:c.4891C>A, XM_011541084.3:c.4891C>T, XM_011541084.2:c.4891C>A, XM_011541084.2:c.4891C>T, XM_011541084.1:c.4891C>A, XM_011541084.1:c.4891C>T, XM_011541083.3:c.4891C>A, XM_011541083.3:c.4891C>T, XM_011541083.2:c.4891C>A, XM_011541083.2:c.4891C>T, XM_011541083.1:c.4891C>A, XM_011541083.1:c.4891C>T, XM_011541088.3:c.4801C>A, XM_011541088.3:c.4801C>T, XM_011541088.2:c.4801C>A, XM_011541088.2:c.4801C>T, XM_011541088.1:c.4801C>A, XM_011541088.1:c.4801C>T, XM_011541087.3:c.4819C>A, XM_011541087.3:c.4819C>T, XM_011541087.2:c.4819C>A, XM_011541087.2:c.4819C>T, XM_011541087.1:c.4819C>A, XM_011541087.1:c.4819C>T, XM_017000774.3:c.4891C>A, XM_017000774.3:c.4891C>T, XM_017000774.2:c.4891C>A, XM_017000774.2:c.4891C>T, XM_017000774.1:c.4891C>A, XM_017000774.1:c.4891C>T, XM_024454331.2:c.1963C>A, XM_024454331.2:c.1963C>T, XM_024454331.1:c.1963C>A, XM_024454331.1:c.1963C>T, XM_017000778.2:c.4531C>A, XM_017000778.2:c.4531C>T, XM_017000778.1:c.4531C>A, XM_017000778.1:c.4531C>T, XM_017000777.2:c.4531C>A, XM_017000777.2:c.4531C>T, XM_024454333.2:c.1963C>A, XM_024454333.2:c.1963C>T, XM_024454333.1:c.1963C>A, XM_024454333.1:c.1963C>T, XM_024454329.2:c.2152C>A, XM_024454329.2:c.2152C>T, XM_024454329.1:c.2152C>A, XM_024454329.1:c.2152C>T, XM_024454330.2:c.2131C>A, XM_024454330.2:c.2131C>T, XM_024454330.1:c.2131C>A, XM_024454330.1:c.2131C>T, XM_024454332.2:c.1963C>A, XM_024454332.2:c.1963C>T, XM_024454332.1:c.1963C>A, XM_024454332.1:c.1963C>T, XM_047415988.1:c.4879C>A, XM_047415988.1:c.4879C>T, XM_047416009.1:c.4573C>A, XM_047416009.1:c.4573C>T, XM_047415999.1:c.4780C>A, XM_047415999.1:c.4780C>T, XM_047415997.1:c.4798C>A, XM_047415997.1:c.4798C>T, XM_047416005.1:c.4708C>A, XM_047416005.1:c.4708C>T, XM_047416020.1:c.4459C>A, XM_047416020.1:c.4459C>T, XM_047416024.1:c.4369C>A, XM_047416024.1:c.4369C>T, XM_047415993.1:c.4870C>A, XM_047415993.1:c.4870C>T, XM_024454334.1:c.1963C>A, XM_024454334.1:c.1963C>T, NP_056030.1:p.Gln1624Lys, NP_056030.1:p.Gln1624Ter, NP_001336553.1:p.Gln535Lys, NP_001336553.1:p.Gln535Ter, NP_001336537.1:p.Gln1594Lys, NP_001336537.1:p.Gln1594Ter, NP_001336539.1:p.Gln1518Lys, NP_001336539.1:p.Gln1518Ter, NP_001336538.1:p.Gln1518Lys, NP_001336538.1:p.Gln1518Ter, NP_001336541.1:p.Gln1488Lys, NP_001336541.1:p.Gln1488Ter, NP_001336545.1:p.Gln655Lys, NP_001336545.1:p.Gln655Ter, NP_001336547.1:p.Gln648Lys, NP_001336547.1:p.Gln648Ter, NP_001336544.1:p.Gln655Lys, NP_001336544.1:p.Gln655Ter, NP_001336554.1:p.Gln535Lys, NP_001336554.1:p.Gln535Ter, NP_001336548.1:p.Gln542Lys, NP_001336548.1:p.Gln542Ter, NP_001336555.1:p.Gln535Lys, NP_001336555.1:p.Gln535Ter, NP_001336551.1:p.Gln542Lys, NP_001336551.1:p.Gln542Ter, NP_001336543.1:p.Gln655Lys, NP_001336543.1:p.Gln655Ter, NP_001336546.1:p.Gln648Lys, NP_001336546.1:p.Gln648Ter, NP_001336542.1:p.Gln667Lys, NP_001336542.1:p.Gln667Ter, NP_001336549.1:p.Gln542Lys, NP_001336549.1:p.Gln542Ter, NP_001336550.1:p.Gln542Lys, NP_001336550.1:p.Gln542Ter, NP_001336552.1:p.Gln535Lys, NP_001336552.1:p.Gln535Ter, XP_011539388.1:p.Gln1624Lys, XP_011539388.1:p.Gln1624Ter, XP_011539392.1:p.Gln1518Lys, XP_011539392.1:p.Gln1518Ter, XP_011539386.1:p.Gln1631Lys, XP_011539386.1:p.Gln1631Ter, XP_011539385.1:p.Gln1631Lys, XP_011539385.1:p.Gln1631Ter, XP_011539390.1:p.Gln1601Lys, XP_011539390.1:p.Gln1601Ter, XP_011539389.1:p.Gln1607Lys, XP_011539389.1:p.Gln1607Ter, XP_016856263.1:p.Gln1631Lys, XP_016856263.1:p.Gln1631Ter, XP_024310099.1:p.Gln655Lys, XP_024310099.1:p.Gln655Ter, XP_016856267.1:p.Gln1511Lys, XP_016856267.1:p.Gln1511Ter, XP_016856266.1:p.Gln1511Lys, XP_016856266.1:p.Gln1511Ter, XP_024310101.1:p.Gln655Lys, XP_024310101.1:p.Gln655Ter, XP_024310097.1:p.Gln718Lys, XP_024310097.1:p.Gln718Ter, XP_024310098.1:p.Gln711Lys, XP_024310098.1:p.Gln711Ter, XP_024310100.1:p.Gln655Lys, XP_024310100.1:p.Gln655Ter, XP_047271944.1:p.Gln1627Lys, XP_047271944.1:p.Gln1627Ter, XP_047271965.1:p.Gln1525Lys, XP_047271965.1:p.Gln1525Ter, XP_047271955.1:p.Gln1594Lys, XP_047271955.1:p.Gln1594Ter, XP_047271953.1:p.Gln1600Lys, XP_047271953.1:p.Gln1600Ter, XP_047271961.1:p.Gln1570Lys, XP_047271961.1:p.Gln1570Ter, XP_047271976.1:p.Gln1487Lys, XP_047271976.1:p.Gln1487Ter, XP_047271980.1:p.Gln1457Lys, XP_047271980.1:p.Gln1457Ter, XP_047271949.1:p.Gln1624Lys, XP_047271949.1:p.Gln1624Ter, XP_024310102.1:p.Gln655Lys, XP_024310102.1:p.Gln655Ter

                8.

                rs1485370903 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:7663913 (GRCh38)
                  1:7723973 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:7663912:C:T
                  Gene:
                  CAMTA1 (Varview)
                  Functional Consequence:
                  synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  HGVS:
                  NC_000001.11:g.7663913C>T, NC_000001.10:g.7723973C>T, NG_053148.1:g.883590C>T, NM_015215.4:c.1366C>T, NM_015215.3:c.1366C>T, NM_015215.2:c.1366C>T, NM_001349608.2:c.1276C>T, NM_001349608.1:c.1276C>T, NM_001349610.2:c.1366C>T, NM_001349610.1:c.1366C>T, NM_001349609.2:c.1366C>T, NM_001349609.1:c.1366C>T, NM_001349612.2:c.1276C>T, NM_001349612.1:c.1276C>T, NM_001410737.1:c.1366C>T, NM_001410738.1:c.1294C>T, XM_011541086.4:c.1366C>T, XM_011541086.3:c.1366C>T, XM_011541086.2:c.1366C>T, XM_011541086.1:c.1366C>T, XM_011541090.4:c.1366C>T, XM_011541090.3:c.1366C>T, XM_011541090.2:c.1366C>T, XM_011541090.1:c.1366C>T, XM_011541092.4:c.1366C>T, XM_011541092.3:c.1366C>T, XM_011541092.2:c.1366C>T, XM_011541092.1:c.1366C>T, XM_011541084.3:c.1366C>T, XM_011541084.2:c.1366C>T, XM_011541084.1:c.1366C>T, XM_011541083.3:c.1366C>T, XM_011541083.2:c.1366C>T, XM_011541083.1:c.1366C>T, XM_011541088.3:c.1276C>T, XM_011541088.2:c.1276C>T, XM_011541088.1:c.1276C>T, XM_011541087.3:c.1294C>T, XM_011541087.2:c.1294C>T, XM_011541087.1:c.1294C>T, XM_017000774.3:c.1366C>T, XM_017000774.2:c.1366C>T, XM_017000774.1:c.1366C>T, XM_011541091.3:c.1366C>T, XM_011541091.2:c.1366C>T, XM_011541091.1:c.1366C>T, XM_017000778.2:c.1366C>T, XM_017000778.1:c.1366C>T, XM_017000777.2:c.1366C>T, XM_047415988.1:c.1354C>T, XM_047416009.1:c.1048C>T, XM_047415999.1:c.1276C>T, XM_047415997.1:c.1294C>T, XM_047416005.1:c.1204C>T, XM_047416020.1:c.1294C>T, XM_047416024.1:c.1204C>T, XM_047415993.1:c.1366C>T

                  9.

                  rs1483296638 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:7664593 (GRCh38)
                    1:7724653 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:7664592:G:A
                    Gene:
                    CAMTA1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.7664593G>A, NC_000001.10:g.7724653G>A, NG_053148.1:g.884270G>A, NM_015215.4:c.2046G>A, NM_015215.3:c.2046G>A, NM_015215.2:c.2046G>A, NM_001349608.2:c.1956G>A, NM_001349608.1:c.1956G>A, NM_001349610.2:c.2046G>A, NM_001349610.1:c.2046G>A, NM_001349609.2:c.2046G>A, NM_001349609.1:c.2046G>A, NM_001349612.2:c.1956G>A, NM_001349612.1:c.1956G>A, NM_001410737.1:c.2046G>A, NM_001410738.1:c.1974G>A, XM_011541086.4:c.2046G>A, XM_011541086.3:c.2046G>A, XM_011541086.2:c.2046G>A, XM_011541086.1:c.2046G>A, XM_011541090.4:c.2046G>A, XM_011541090.3:c.2046G>A, XM_011541090.2:c.2046G>A, XM_011541090.1:c.2046G>A, XM_011541092.4:c.2046G>A, XM_011541092.3:c.2046G>A, XM_011541092.2:c.2046G>A, XM_011541092.1:c.2046G>A, XM_011541084.3:c.2046G>A, XM_011541084.2:c.2046G>A, XM_011541084.1:c.2046G>A, XM_011541083.3:c.2046G>A, XM_011541083.2:c.2046G>A, XM_011541083.1:c.2046G>A, XM_011541088.3:c.1956G>A, XM_011541088.2:c.1956G>A, XM_011541088.1:c.1956G>A, XM_011541087.3:c.1974G>A, XM_011541087.2:c.1974G>A, XM_011541087.1:c.1974G>A, XM_017000774.3:c.2046G>A, XM_017000774.2:c.2046G>A, XM_017000774.1:c.2046G>A, XM_011541091.3:c.2046G>A, XM_011541091.2:c.2046G>A, XM_011541091.1:c.2046G>A, XM_017000778.2:c.2046G>A, XM_017000778.1:c.2046G>A, XM_017000777.2:c.2046G>A, XM_047415988.1:c.2034G>A, XM_047416009.1:c.1728G>A, XM_047415999.1:c.1956G>A, XM_047415997.1:c.1974G>A, XM_047416005.1:c.1884G>A, XM_047416020.1:c.1974G>A, XM_047416024.1:c.1884G>A, XM_047415993.1:c.2046G>A

                    10.

                    rs1482561624 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      1:7664784 (GRCh38)
                      1:7724844 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:7664783:C:A
                      Gene:
                      CAMTA1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.7664784C>A, NC_000001.10:g.7724844C>A, NG_053148.1:g.884461C>A, NM_015215.4:c.2237C>A, NM_015215.3:c.2237C>A, NM_015215.2:c.2237C>A, NM_001349608.2:c.2147C>A, NM_001349608.1:c.2147C>A, NM_001349610.2:c.2237C>A, NM_001349610.1:c.2237C>A, NM_001349609.2:c.2237C>A, NM_001349609.1:c.2237C>A, NM_001349612.2:c.2147C>A, NM_001349612.1:c.2147C>A, NM_001410737.1:c.2237C>A, NM_001410738.1:c.2165C>A, XM_011541086.4:c.2237C>A, XM_011541086.3:c.2237C>A, XM_011541086.2:c.2237C>A, XM_011541086.1:c.2237C>A, XM_011541090.4:c.2237C>A, XM_011541090.3:c.2237C>A, XM_011541090.2:c.2237C>A, XM_011541090.1:c.2237C>A, XM_011541092.4:c.2237C>A, XM_011541092.3:c.2237C>A, XM_011541092.2:c.2237C>A, XM_011541092.1:c.2237C>A, XM_011541084.3:c.2237C>A, XM_011541084.2:c.2237C>A, XM_011541084.1:c.2237C>A, XM_011541083.3:c.2237C>A, XM_011541083.2:c.2237C>A, XM_011541083.1:c.2237C>A, XM_011541088.3:c.2147C>A, XM_011541088.2:c.2147C>A, XM_011541088.1:c.2147C>A, XM_011541087.3:c.2165C>A, XM_011541087.2:c.2165C>A, XM_011541087.1:c.2165C>A, XM_017000774.3:c.2237C>A, XM_017000774.2:c.2237C>A, XM_017000774.1:c.2237C>A, XM_011541091.3:c.2237C>A, XM_011541091.2:c.2237C>A, XM_011541091.1:c.2237C>A, XM_017000778.2:c.2237C>A, XM_017000778.1:c.2237C>A, XM_017000777.2:c.2237C>A, XM_047415988.1:c.2225C>A, XM_047416009.1:c.1919C>A, XM_047415999.1:c.2147C>A, XM_047415997.1:c.2165C>A, XM_047416005.1:c.2075C>A, XM_047416020.1:c.2165C>A, XM_047416024.1:c.2075C>A, XM_047415993.1:c.2237C>A, NP_056030.1:p.Pro746His, NP_001336537.1:p.Pro716His, NP_001336539.1:p.Pro746His, NP_001336538.1:p.Pro746His, NP_001336541.1:p.Pro716His, XP_011539388.1:p.Pro746His, XP_011539392.1:p.Pro746His, XP_011539394.1:p.Pro746His, XP_011539386.1:p.Pro746His, XP_011539385.1:p.Pro746His, XP_011539390.1:p.Pro716His, XP_011539389.1:p.Pro722His, XP_016856263.1:p.Pro746His, XP_011539393.1:p.Pro746His, XP_016856267.1:p.Pro746His, XP_016856266.1:p.Pro746His, XP_047271944.1:p.Pro742His, XP_047271965.1:p.Pro640His, XP_047271955.1:p.Pro716His, XP_047271953.1:p.Pro722His, XP_047271961.1:p.Pro692His, XP_047271976.1:p.Pro722His, XP_047271980.1:p.Pro692His, XP_047271949.1:p.Pro746His

                      11.

                      rs1480771633 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        1:7732517 (GRCh38)
                        1:7792577 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:7732516:G:T
                        Gene:
                        CAMTA1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        HGVS:
                        NC_000001.11:g.7732517G>T, NC_000001.10:g.7792577G>T, NG_053148.1:g.952194G>T, NM_015215.4:c.2984G>T, NM_015215.3:c.2984G>T, NM_015215.2:c.2984G>T, NM_001349624.3:c.56G>T, NM_001349624.2:c.56G>T, NM_001349624.1:c.56G>T, NM_001349608.2:c.2894G>T, NM_001349608.1:c.2894G>T, NM_001349610.2:c.2984G>T, NM_001349610.1:c.2984G>T, NM_001349609.2:c.2984G>T, NM_001349609.1:c.2984G>T, NM_001349612.2:c.2894G>T, NM_001349612.1:c.2894G>T, NM_001349616.2:c.56G>T, NM_001349616.1:c.56G>T, NM_001349618.2:c.56G>T, NM_001349618.1:c.56G>T, NM_001349615.2:c.56G>T, NM_001349615.1:c.56G>T, NM_001349625.2:c.56G>T, NM_001349625.1:c.56G>T, NM_001349619.2:c.56G>T, NM_001349619.1:c.56G>T, NM_001349626.2:c.56G>T, NM_001349626.1:c.56G>T, NM_001349622.2:c.56G>T, NM_001349622.1:c.56G>T, NM_001410737.1:c.2984G>T, NM_001410738.1:c.2912G>T, NM_001349614.1:c.56G>T, NM_001349617.1:c.56G>T, NM_001349613.1:c.113G>T, NM_001349620.1:c.56G>T, NM_001349621.1:c.56G>T, NM_001349623.1:c.56G>T, XM_011541086.4:c.2984G>T, XM_011541086.3:c.2984G>T, XM_011541086.2:c.2984G>T, XM_011541086.1:c.2984G>T, XM_011541090.4:c.2984G>T, XM_011541090.3:c.2984G>T, XM_011541090.2:c.2984G>T, XM_011541090.1:c.2984G>T, XM_011541084.3:c.2984G>T, XM_011541084.2:c.2984G>T, XM_011541084.1:c.2984G>T, XM_011541083.3:c.2984G>T, XM_011541083.2:c.2984G>T, XM_011541083.1:c.2984G>T, XM_011541088.3:c.2894G>T, XM_011541088.2:c.2894G>T, XM_011541088.1:c.2894G>T, XM_011541087.3:c.2912G>T, XM_011541087.2:c.2912G>T, XM_011541087.1:c.2912G>T, XM_017000774.3:c.2984G>T, XM_017000774.2:c.2984G>T, XM_017000774.1:c.2984G>T, XM_024454331.2:c.56G>T, XM_024454331.1:c.56G>T, XM_017000778.2:c.2984G>T, XM_017000778.1:c.2984G>T, XM_017000777.2:c.2984G>T, XM_024454333.2:c.56G>T, XM_024454333.1:c.56G>T, XM_024454329.2:c.245G>T, XM_024454329.1:c.245G>T, XM_024454330.2:c.245G>T, XM_024454330.1:c.245G>T, XM_024454332.2:c.56G>T, XM_024454332.1:c.56G>T, XM_047415988.1:c.2972G>T, XM_047416009.1:c.2666G>T, XM_047415999.1:c.2894G>T, XM_047415997.1:c.2912G>T, XM_047416005.1:c.2822G>T, XM_047416020.1:c.2912G>T, XM_047416024.1:c.2822G>T, XM_047415993.1:c.2984G>T, XM_024454334.1:c.56G>T, NP_056030.1:p.Gly995Val, NP_001336553.1:p.Gly19Val, NP_001336537.1:p.Gly965Val, NP_001336539.1:p.Gly995Val, NP_001336538.1:p.Gly995Val, NP_001336541.1:p.Gly965Val, NP_001336545.1:p.Gly19Val, NP_001336547.1:p.Gly19Val, NP_001336544.1:p.Gly19Val, NP_001336554.1:p.Gly19Val, NP_001336548.1:p.Gly19Val, NP_001336555.1:p.Gly19Val, NP_001336551.1:p.Gly19Val, NP_001336543.1:p.Gly19Val, NP_001336546.1:p.Gly19Val, NP_001336542.1:p.Gly38Val, NP_001336549.1:p.Gly19Val, NP_001336550.1:p.Gly19Val, NP_001336552.1:p.Gly19Val, XP_011539388.1:p.Gly995Val, XP_011539392.1:p.Gly995Val, XP_011539386.1:p.Gly995Val, XP_011539385.1:p.Gly995Val, XP_011539390.1:p.Gly965Val, XP_011539389.1:p.Gly971Val, XP_016856263.1:p.Gly995Val, XP_024310099.1:p.Gly19Val, XP_016856267.1:p.Gly995Val, XP_016856266.1:p.Gly995Val, XP_024310101.1:p.Gly19Val, XP_024310097.1:p.Gly82Val, XP_024310098.1:p.Gly82Val, XP_024310100.1:p.Gly19Val, XP_047271944.1:p.Gly991Val, XP_047271965.1:p.Gly889Val, XP_047271955.1:p.Gly965Val, XP_047271953.1:p.Gly971Val, XP_047271961.1:p.Gly941Val, XP_047271976.1:p.Gly971Val, XP_047271980.1:p.Gly941Val, XP_047271949.1:p.Gly995Val, XP_024310102.1:p.Gly19Val

                        12.

                        rs1479738955 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:7663833 (GRCh38)
                          1:7723893 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:7663832:A:G
                          Gene:
                          CAMTA1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0./0 (GnomAD)
                          G=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.7663833A>G, NC_000001.10:g.7723893A>G, NG_053148.1:g.883510A>G, NM_015215.4:c.1286A>G, NM_015215.3:c.1286A>G, NM_015215.2:c.1286A>G, NM_001349608.2:c.1196A>G, NM_001349608.1:c.1196A>G, NM_001349610.2:c.1286A>G, NM_001349610.1:c.1286A>G, NM_001349609.2:c.1286A>G, NM_001349609.1:c.1286A>G, NM_001349612.2:c.1196A>G, NM_001349612.1:c.1196A>G, NM_001410737.1:c.1286A>G, NM_001410738.1:c.1214A>G, XM_011541086.4:c.1286A>G, XM_011541086.3:c.1286A>G, XM_011541086.2:c.1286A>G, XM_011541086.1:c.1286A>G, XM_011541090.4:c.1286A>G, XM_011541090.3:c.1286A>G, XM_011541090.2:c.1286A>G, XM_011541090.1:c.1286A>G, XM_011541092.4:c.1286A>G, XM_011541092.3:c.1286A>G, XM_011541092.2:c.1286A>G, XM_011541092.1:c.1286A>G, XM_011541084.3:c.1286A>G, XM_011541084.2:c.1286A>G, XM_011541084.1:c.1286A>G, XM_011541083.3:c.1286A>G, XM_011541083.2:c.1286A>G, XM_011541083.1:c.1286A>G, XM_011541088.3:c.1196A>G, XM_011541088.2:c.1196A>G, XM_011541088.1:c.1196A>G, XM_011541087.3:c.1214A>G, XM_011541087.2:c.1214A>G, XM_011541087.1:c.1214A>G, XM_017000774.3:c.1286A>G, XM_017000774.2:c.1286A>G, XM_017000774.1:c.1286A>G, XM_011541091.3:c.1286A>G, XM_011541091.2:c.1286A>G, XM_011541091.1:c.1286A>G, XM_017000778.2:c.1286A>G, XM_017000778.1:c.1286A>G, XM_017000777.2:c.1286A>G, XM_047415988.1:c.1274A>G, XM_047416009.1:c.968A>G, XM_047415999.1:c.1196A>G, XM_047415997.1:c.1214A>G, XM_047416005.1:c.1124A>G, XM_047416020.1:c.1214A>G, XM_047416024.1:c.1124A>G, XM_047415993.1:c.1286A>G, NP_056030.1:p.Gln429Arg, NP_001336537.1:p.Gln399Arg, NP_001336539.1:p.Gln429Arg, NP_001336538.1:p.Gln429Arg, NP_001336541.1:p.Gln399Arg, XP_011539388.1:p.Gln429Arg, XP_011539392.1:p.Gln429Arg, XP_011539394.1:p.Gln429Arg, XP_011539386.1:p.Gln429Arg, XP_011539385.1:p.Gln429Arg, XP_011539390.1:p.Gln399Arg, XP_011539389.1:p.Gln405Arg, XP_016856263.1:p.Gln429Arg, XP_011539393.1:p.Gln429Arg, XP_016856267.1:p.Gln429Arg, XP_016856266.1:p.Gln429Arg, XP_047271944.1:p.Gln425Arg, XP_047271965.1:p.Gln323Arg, XP_047271955.1:p.Gln399Arg, XP_047271953.1:p.Gln405Arg, XP_047271961.1:p.Gln375Arg, XP_047271976.1:p.Gln405Arg, XP_047271980.1:p.Gln375Arg, XP_047271949.1:p.Gln429Arg

                          13.

                          rs1478450902 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            1:7737483 (GRCh38)
                            1:7797543 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:7737482:G:A,NC_000001.11:7737482:G:C
                            Gene:
                            CAMTA1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.7737483G>A, NC_000001.11:g.7737483G>C, NC_000001.10:g.7797543G>A, NC_000001.10:g.7797543G>C, NG_053148.1:g.957160G>A, NG_053148.1:g.957160G>C, NM_015215.4:c.3571G>A, NM_015215.4:c.3571G>C, NM_015215.3:c.3571G>A, NM_015215.3:c.3571G>C, NM_015215.2:c.3571G>A, NM_015215.2:c.3571G>C, NM_001349624.3:c.643G>A, NM_001349624.3:c.643G>C, NM_001349624.2:c.643G>A, NM_001349624.2:c.643G>C, NM_001349624.1:c.643G>A, NM_001349624.1:c.643G>C, NM_001349608.2:c.3481G>A, NM_001349608.2:c.3481G>C, NM_001349608.1:c.3481G>A, NM_001349608.1:c.3481G>C, NM_001349610.2:c.3571G>A, NM_001349610.2:c.3571G>C, NM_001349610.1:c.3571G>A, NM_001349610.1:c.3571G>C, NM_001349609.2:c.3571G>A, NM_001349609.2:c.3571G>C, NM_001349609.1:c.3571G>A, NM_001349609.1:c.3571G>C, NM_001349612.2:c.3481G>A, NM_001349612.2:c.3481G>C, NM_001349612.1:c.3481G>A, NM_001349612.1:c.3481G>C, NM_001349616.2:c.643G>A, NM_001349616.2:c.643G>C, NM_001349616.1:c.643G>A, NM_001349616.1:c.643G>C, NM_001349618.2:c.643G>A, NM_001349618.2:c.643G>C, NM_001349618.1:c.643G>A, NM_001349618.1:c.643G>C, NM_001349615.2:c.643G>A, NM_001349615.2:c.643G>C, NM_001349615.1:c.643G>A, NM_001349615.1:c.643G>C, NM_001349625.2:c.643G>A, NM_001349625.2:c.643G>C, NM_001349625.1:c.643G>A, NM_001349625.1:c.643G>C, NM_001349619.2:c.643G>A, NM_001349619.2:c.643G>C, NM_001349619.1:c.643G>A, NM_001349619.1:c.643G>C, NM_001349626.2:c.643G>A, NM_001349626.2:c.643G>C, NM_001349626.1:c.643G>A, NM_001349626.1:c.643G>C, NM_001349622.2:c.643G>A, NM_001349622.2:c.643G>C, NM_001349622.1:c.643G>A, NM_001349622.1:c.643G>C, NM_001410737.1:c.3571G>A, NM_001410737.1:c.3571G>C, NM_001410738.1:c.3499G>A, NM_001410738.1:c.3499G>C, NM_001349614.1:c.643G>A, NM_001349614.1:c.643G>C, NM_001349617.1:c.643G>A, NM_001349617.1:c.643G>C, NM_001349613.1:c.700G>A, NM_001349613.1:c.700G>C, NM_001349620.1:c.643G>A, NM_001349620.1:c.643G>C, NM_001349621.1:c.643G>A, NM_001349621.1:c.643G>C, NM_001349623.1:c.643G>A, NM_001349623.1:c.643G>C, XM_011541086.4:c.3571G>A, XM_011541086.4:c.3571G>C, XM_011541086.3:c.3571G>A, XM_011541086.3:c.3571G>C, XM_011541086.2:c.3571G>A, XM_011541086.2:c.3571G>C, XM_011541086.1:c.3571G>A, XM_011541086.1:c.3571G>C, XM_011541090.4:c.3571G>A, XM_011541090.4:c.3571G>C, XM_011541090.3:c.3571G>A, XM_011541090.3:c.3571G>C, XM_011541090.2:c.3571G>A, XM_011541090.2:c.3571G>C, XM_011541090.1:c.3571G>A, XM_011541090.1:c.3571G>C, XM_011541084.3:c.3571G>A, XM_011541084.3:c.3571G>C, XM_011541084.2:c.3571G>A, XM_011541084.2:c.3571G>C, XM_011541084.1:c.3571G>A, XM_011541084.1:c.3571G>C, XM_011541083.3:c.3571G>A, XM_011541083.3:c.3571G>C, XM_011541083.2:c.3571G>A, XM_011541083.2:c.3571G>C, XM_011541083.1:c.3571G>A, XM_011541083.1:c.3571G>C, XM_011541088.3:c.3481G>A, XM_011541088.3:c.3481G>C, XM_011541088.2:c.3481G>A, XM_011541088.2:c.3481G>C, XM_011541088.1:c.3481G>A, XM_011541088.1:c.3481G>C, XM_011541087.3:c.3499G>A, XM_011541087.3:c.3499G>C, XM_011541087.2:c.3499G>A, XM_011541087.2:c.3499G>C, XM_011541087.1:c.3499G>A, XM_011541087.1:c.3499G>C, XM_017000774.3:c.3571G>A, XM_017000774.3:c.3571G>C, XM_017000774.2:c.3571G>A, XM_017000774.2:c.3571G>C, XM_017000774.1:c.3571G>A, XM_017000774.1:c.3571G>C, XM_024454331.2:c.643G>A, XM_024454331.2:c.643G>C, XM_024454331.1:c.643G>A, XM_024454331.1:c.643G>C, XM_017000778.2:c.3571G>A, XM_017000778.2:c.3571G>C, XM_017000778.1:c.3571G>A, XM_017000778.1:c.3571G>C, XM_017000777.2:c.3571G>A, XM_017000777.2:c.3571G>C, XM_024454333.2:c.643G>A, XM_024454333.2:c.643G>C, XM_024454333.1:c.643G>A, XM_024454333.1:c.643G>C, XM_024454329.2:c.832G>A, XM_024454329.2:c.832G>C, XM_024454329.1:c.832G>A, XM_024454329.1:c.832G>C, XM_024454330.2:c.832G>A, XM_024454330.2:c.832G>C, XM_024454330.1:c.832G>A, XM_024454330.1:c.832G>C, XM_024454332.2:c.643G>A, XM_024454332.2:c.643G>C, XM_024454332.1:c.643G>A, XM_024454332.1:c.643G>C, XM_047415988.1:c.3559G>A, XM_047415988.1:c.3559G>C, XM_047416009.1:c.3253G>A, XM_047416009.1:c.3253G>C, XM_047415999.1:c.3481G>A, XM_047415999.1:c.3481G>C, XM_047415997.1:c.3499G>A, XM_047415997.1:c.3499G>C, XM_047416005.1:c.3409G>A, XM_047416005.1:c.3409G>C, XM_047416020.1:c.3499G>A, XM_047416020.1:c.3499G>C, XM_047416024.1:c.3409G>A, XM_047416024.1:c.3409G>C, XM_047415993.1:c.3571G>A, XM_047415993.1:c.3571G>C, XM_024454334.1:c.643G>A, XM_024454334.1:c.643G>C, NP_056030.1:p.Glu1191Lys, NP_056030.1:p.Glu1191Gln, NP_001336553.1:p.Glu215Lys, NP_001336553.1:p.Glu215Gln, NP_001336537.1:p.Glu1161Lys, NP_001336537.1:p.Glu1161Gln, NP_001336539.1:p.Glu1191Lys, NP_001336539.1:p.Glu1191Gln, NP_001336538.1:p.Glu1191Lys, NP_001336538.1:p.Glu1191Gln, NP_001336541.1:p.Glu1161Lys, NP_001336541.1:p.Glu1161Gln, NP_001336545.1:p.Glu215Lys, NP_001336545.1:p.Glu215Gln, NP_001336547.1:p.Glu215Lys, NP_001336547.1:p.Glu215Gln, NP_001336544.1:p.Glu215Lys, NP_001336544.1:p.Glu215Gln, NP_001336554.1:p.Glu215Lys, NP_001336554.1:p.Glu215Gln, NP_001336548.1:p.Glu215Lys, NP_001336548.1:p.Glu215Gln, NP_001336555.1:p.Glu215Lys, NP_001336555.1:p.Glu215Gln, NP_001336551.1:p.Glu215Lys, NP_001336551.1:p.Glu215Gln, NP_001336543.1:p.Glu215Lys, NP_001336543.1:p.Glu215Gln, NP_001336546.1:p.Glu215Lys, NP_001336546.1:p.Glu215Gln, NP_001336542.1:p.Glu234Lys, NP_001336542.1:p.Glu234Gln, NP_001336549.1:p.Glu215Lys, NP_001336549.1:p.Glu215Gln, NP_001336550.1:p.Glu215Lys, NP_001336550.1:p.Glu215Gln, NP_001336552.1:p.Glu215Lys, NP_001336552.1:p.Glu215Gln, XP_011539388.1:p.Glu1191Lys, XP_011539388.1:p.Glu1191Gln, XP_011539392.1:p.Glu1191Lys, XP_011539392.1:p.Glu1191Gln, XP_011539386.1:p.Glu1191Lys, XP_011539386.1:p.Glu1191Gln, XP_011539385.1:p.Glu1191Lys, XP_011539385.1:p.Glu1191Gln, XP_011539390.1:p.Glu1161Lys, XP_011539390.1:p.Glu1161Gln, XP_011539389.1:p.Glu1167Lys, XP_011539389.1:p.Glu1167Gln, XP_016856263.1:p.Glu1191Lys, XP_016856263.1:p.Glu1191Gln, XP_024310099.1:p.Glu215Lys, XP_024310099.1:p.Glu215Gln, XP_016856267.1:p.Glu1191Lys, XP_016856267.1:p.Glu1191Gln, XP_016856266.1:p.Glu1191Lys, XP_016856266.1:p.Glu1191Gln, XP_024310101.1:p.Glu215Lys, XP_024310101.1:p.Glu215Gln, XP_024310097.1:p.Glu278Lys, XP_024310097.1:p.Glu278Gln, XP_024310098.1:p.Glu278Lys, XP_024310098.1:p.Glu278Gln, XP_024310100.1:p.Glu215Lys, XP_024310100.1:p.Glu215Gln, XP_047271944.1:p.Glu1187Lys, XP_047271944.1:p.Glu1187Gln, XP_047271965.1:p.Glu1085Lys, XP_047271965.1:p.Glu1085Gln, XP_047271955.1:p.Glu1161Lys, XP_047271955.1:p.Glu1161Gln, XP_047271953.1:p.Glu1167Lys, XP_047271953.1:p.Glu1167Gln, XP_047271961.1:p.Glu1137Lys, XP_047271961.1:p.Glu1137Gln, XP_047271976.1:p.Glu1167Lys, XP_047271976.1:p.Glu1167Gln, XP_047271980.1:p.Glu1137Lys, XP_047271980.1:p.Glu1137Gln, XP_047271949.1:p.Glu1191Lys, XP_047271949.1:p.Glu1191Gln, XP_024310102.1:p.Glu215Lys, XP_024310102.1:p.Glu215Gln

                            14.

                            rs1478049959 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:7664122 (GRCh38)
                              1:7724182 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:7664121:C:T
                              Gene:
                              CAMTA1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.7664122C>T, NC_000001.10:g.7724182C>T, NG_053148.1:g.883799C>T, NM_015215.4:c.1575C>T, NM_015215.3:c.1575C>T, NM_015215.2:c.1575C>T, NM_001349608.2:c.1485C>T, NM_001349608.1:c.1485C>T, NM_001349610.2:c.1575C>T, NM_001349610.1:c.1575C>T, NM_001349609.2:c.1575C>T, NM_001349609.1:c.1575C>T, NM_001349612.2:c.1485C>T, NM_001349612.1:c.1485C>T, NM_001410737.1:c.1575C>T, NM_001410738.1:c.1503C>T, XM_011541086.4:c.1575C>T, XM_011541086.3:c.1575C>T, XM_011541086.2:c.1575C>T, XM_011541086.1:c.1575C>T, XM_011541090.4:c.1575C>T, XM_011541090.3:c.1575C>T, XM_011541090.2:c.1575C>T, XM_011541090.1:c.1575C>T, XM_011541092.4:c.1575C>T, XM_011541092.3:c.1575C>T, XM_011541092.2:c.1575C>T, XM_011541092.1:c.1575C>T, XM_011541084.3:c.1575C>T, XM_011541084.2:c.1575C>T, XM_011541084.1:c.1575C>T, XM_011541083.3:c.1575C>T, XM_011541083.2:c.1575C>T, XM_011541083.1:c.1575C>T, XM_011541088.3:c.1485C>T, XM_011541088.2:c.1485C>T, XM_011541088.1:c.1485C>T, XM_011541087.3:c.1503C>T, XM_011541087.2:c.1503C>T, XM_011541087.1:c.1503C>T, XM_017000774.3:c.1575C>T, XM_017000774.2:c.1575C>T, XM_017000774.1:c.1575C>T, XM_011541091.3:c.1575C>T, XM_011541091.2:c.1575C>T, XM_011541091.1:c.1575C>T, XM_017000778.2:c.1575C>T, XM_017000778.1:c.1575C>T, XM_017000777.2:c.1575C>T, XM_047415988.1:c.1563C>T, XM_047416009.1:c.1257C>T, XM_047415999.1:c.1485C>T, XM_047415997.1:c.1503C>T, XM_047416005.1:c.1413C>T, XM_047416020.1:c.1503C>T, XM_047416024.1:c.1413C>T, XM_047415993.1:c.1575C>T

                              15.

                              rs1477789229 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:7640532 (GRCh38)
                                1:7700592 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:7640531:A:G
                                Gene:
                                CAMTA1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.7640532A>G, NC_000001.10:g.7700592A>G, NG_053148.1:g.860209A>G, NM_015215.4:c.643A>G, NM_015215.3:c.643A>G, NM_015215.2:c.643A>G, NM_001349608.2:c.553A>G, NM_001349608.1:c.553A>G, NM_001349610.2:c.643A>G, NM_001349610.1:c.643A>G, NM_001349609.2:c.643A>G, NM_001349609.1:c.643A>G, NM_001349612.2:c.553A>G, NM_001349612.1:c.553A>G, NM_001410737.1:c.643A>G, NM_001410738.1:c.571A>G, XM_011541086.4:c.643A>G, XM_011541086.3:c.643A>G, XM_011541086.2:c.643A>G, XM_011541086.1:c.643A>G, XM_011541090.4:c.643A>G, XM_011541090.3:c.643A>G, XM_011541090.2:c.643A>G, XM_011541090.1:c.643A>G, XM_011541092.4:c.643A>G, XM_011541092.3:c.643A>G, XM_011541092.2:c.643A>G, XM_011541092.1:c.643A>G, XM_011541084.3:c.643A>G, XM_011541084.2:c.643A>G, XM_011541084.1:c.643A>G, XM_011541083.3:c.643A>G, XM_011541083.2:c.643A>G, XM_011541083.1:c.643A>G, XM_011541088.3:c.553A>G, XM_011541088.2:c.553A>G, XM_011541088.1:c.553A>G, XM_011541087.3:c.571A>G, XM_011541087.2:c.571A>G, XM_011541087.1:c.571A>G, XM_017000774.3:c.643A>G, XM_017000774.2:c.643A>G, XM_017000774.1:c.643A>G, XM_011541091.3:c.643A>G, XM_011541091.2:c.643A>G, XM_011541091.1:c.643A>G, XM_017000778.2:c.643A>G, XM_017000778.1:c.643A>G, XM_017000777.2:c.643A>G, XM_047415988.1:c.631A>G, XM_047416009.1:c.325A>G, XM_047415999.1:c.553A>G, XM_047415997.1:c.571A>G, XM_047416005.1:c.481A>G, XM_047416020.1:c.571A>G, XM_047416024.1:c.481A>G, XM_047415993.1:c.643A>G, NP_056030.1:p.Ile215Val, NP_001336537.1:p.Ile185Val, NP_001336539.1:p.Ile215Val, NP_001336538.1:p.Ile215Val, NP_001336541.1:p.Ile185Val, XP_011539388.1:p.Ile215Val, XP_011539392.1:p.Ile215Val, XP_011539394.1:p.Ile215Val, XP_011539386.1:p.Ile215Val, XP_011539385.1:p.Ile215Val, XP_011539390.1:p.Ile185Val, XP_011539389.1:p.Ile191Val, XP_016856263.1:p.Ile215Val, XP_011539393.1:p.Ile215Val, XP_016856267.1:p.Ile215Val, XP_016856266.1:p.Ile215Val, XP_047271944.1:p.Ile211Val, XP_047271965.1:p.Ile109Val, XP_047271955.1:p.Ile185Val, XP_047271953.1:p.Ile191Val, XP_047271961.1:p.Ile161Val, XP_047271976.1:p.Ile191Val, XP_047271980.1:p.Ile161Val, XP_047271949.1:p.Ile215Val

                                16.

                                rs1477364625 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:7745903 (GRCh38)
                                  1:7805963 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:7745902:T:G
                                  Gene:
                                  CAMTA1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.7745903T>G, NC_000001.10:g.7805963T>G, NG_053148.1:g.965580T>G, NM_015215.4:c.4429T>G, NM_015215.3:c.4429T>G, NM_015215.2:c.4429T>G, NM_001349624.3:c.1162T>G, NM_001349624.2:c.1162T>G, NM_001349624.1:c.1162T>G, NM_001349608.2:c.4339T>G, NM_001349608.1:c.4339T>G, NM_001349610.2:c.4090T>G, NM_001349610.1:c.4090T>G, NM_001349609.2:c.4090T>G, NM_001349609.1:c.4090T>G, NM_001349612.2:c.4000T>G, NM_001349612.1:c.4000T>G, NM_001349616.2:c.1501T>G, NM_001349616.1:c.1501T>G, NM_001349618.2:c.1501T>G, NM_001349618.1:c.1501T>G, NM_001349615.2:c.1501T>G, NM_001349615.1:c.1501T>G, NM_001349625.2:c.1162T>G, NM_001349625.1:c.1162T>G, NM_001349619.2:c.1162T>G, NM_001349619.1:c.1162T>G, NM_001349626.2:c.1162T>G, NM_001349626.1:c.1162T>G, NM_001349622.2:c.1162T>G, NM_001349622.1:c.1162T>G, NM_001410737.1:c.4090T>G, NM_001410738.1:c.4018T>G, NM_001349614.1:c.1501T>G, NM_001349617.1:c.1501T>G, NM_001349613.1:c.1558T>G, NM_001349620.1:c.1162T>G, NM_001349621.1:c.1162T>G, NM_001349623.1:c.1162T>G, XM_011541086.4:c.4429T>G, XM_011541086.3:c.4429T>G, XM_011541086.2:c.4429T>G, XM_011541086.1:c.4429T>G, XM_011541090.4:c.4090T>G, XM_011541090.3:c.4090T>G, XM_011541090.2:c.4090T>G, XM_011541090.1:c.4090T>G, XM_011541084.3:c.4429T>G, XM_011541084.2:c.4429T>G, XM_011541084.1:c.4429T>G, XM_011541083.3:c.4429T>G, XM_011541083.2:c.4429T>G, XM_011541083.1:c.4429T>G, XM_011541088.3:c.4339T>G, XM_011541088.2:c.4339T>G, XM_011541088.1:c.4339T>G, XM_011541087.3:c.4357T>G, XM_011541087.2:c.4357T>G, XM_011541087.1:c.4357T>G, XM_017000774.3:c.4429T>G, XM_017000774.2:c.4429T>G, XM_017000774.1:c.4429T>G, XM_024454331.2:c.1501T>G, XM_024454331.1:c.1501T>G, XM_017000778.2:c.4090T>G, XM_017000778.1:c.4090T>G, XM_017000777.2:c.4090T>G, XM_024454333.2:c.1501T>G, XM_024454333.1:c.1501T>G, XM_024454329.2:c.1690T>G, XM_024454329.1:c.1690T>G, XM_024454330.2:c.1690T>G, XM_024454330.1:c.1690T>G, XM_024454332.2:c.1501T>G, XM_024454332.1:c.1501T>G, XM_047415988.1:c.4417T>G, XM_047416009.1:c.4111T>G, XM_047415999.1:c.4339T>G, XM_047415997.1:c.4357T>G, XM_047416005.1:c.4267T>G, XM_047416020.1:c.4018T>G, XM_047416024.1:c.3928T>G, XM_047415993.1:c.4429T>G, XM_024454334.1:c.1501T>G, NP_056030.1:p.Ser1477Ala, NP_001336553.1:p.Ser388Ala, NP_001336537.1:p.Ser1447Ala, NP_001336539.1:p.Ser1364Ala, NP_001336538.1:p.Ser1364Ala, NP_001336541.1:p.Ser1334Ala, NP_001336545.1:p.Ser501Ala, NP_001336547.1:p.Ser501Ala, NP_001336544.1:p.Ser501Ala, NP_001336554.1:p.Ser388Ala, NP_001336548.1:p.Ser388Ala, NP_001336555.1:p.Ser388Ala, NP_001336551.1:p.Ser388Ala, NP_001336543.1:p.Ser501Ala, NP_001336546.1:p.Ser501Ala, NP_001336542.1:p.Ser520Ala, NP_001336549.1:p.Ser388Ala, NP_001336550.1:p.Ser388Ala, NP_001336552.1:p.Ser388Ala, XP_011539388.1:p.Ser1477Ala, XP_011539392.1:p.Ser1364Ala, XP_011539386.1:p.Ser1477Ala, XP_011539385.1:p.Ser1477Ala, XP_011539390.1:p.Ser1447Ala, XP_011539389.1:p.Ser1453Ala, XP_016856263.1:p.Ser1477Ala, XP_024310099.1:p.Ser501Ala, XP_016856267.1:p.Ser1364Ala, XP_016856266.1:p.Ser1364Ala, XP_024310101.1:p.Ser501Ala, XP_024310097.1:p.Ser564Ala, XP_024310098.1:p.Ser564Ala, XP_024310100.1:p.Ser501Ala, XP_047271944.1:p.Ser1473Ala, XP_047271965.1:p.Ser1371Ala, XP_047271955.1:p.Ser1447Ala, XP_047271953.1:p.Ser1453Ala, XP_047271961.1:p.Ser1423Ala, XP_047271976.1:p.Ser1340Ala, XP_047271980.1:p.Ser1310Ala, XP_047271949.1:p.Ser1477Ala, XP_024310102.1:p.Ser501Ala

                                  17.

                                  rs1476317364 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    1:7677697 (GRCh38)
                                    1:7737757 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:7677696:C:A,NC_000001.11:7677696:C:T
                                    Gene:
                                    CAMTA1 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.7677697C>A, NC_000001.11:g.7677697C>T, NC_000001.10:g.7737757C>A, NC_000001.10:g.7737757C>T, NG_053148.1:g.897374C>A, NG_053148.1:g.897374C>T, NM_015215.4:c.2878C>A, NM_015215.4:c.2878C>T, NM_015215.3:c.2878C>A, NM_015215.3:c.2878C>T, NM_015215.2:c.2878C>A, NM_015215.2:c.2878C>T, NM_001349608.2:c.2788C>A, NM_001349608.2:c.2788C>T, NM_001349608.1:c.2788C>A, NM_001349608.1:c.2788C>T, NM_001349610.2:c.2878C>A, NM_001349610.2:c.2878C>T, NM_001349610.1:c.2878C>A, NM_001349610.1:c.2878C>T, NM_001349609.2:c.2878C>A, NM_001349609.2:c.2878C>T, NM_001349609.1:c.2878C>A, NM_001349609.1:c.2878C>T, NM_001349612.2:c.2788C>A, NM_001349612.2:c.2788C>T, NM_001349612.1:c.2788C>A, NM_001349612.1:c.2788C>T, NM_001349625.2:c.-51C>A, NM_001349625.2:c.-51C>T, NM_001349625.1:c.-51C>A, NM_001349625.1:c.-51C>T, NM_001410737.1:c.2878C>A, NM_001410737.1:c.2878C>T, NM_001410738.1:c.2806C>A, NM_001410738.1:c.2806C>T, NM_001349614.1:c.-51C>A, NM_001349614.1:c.-51C>T, NM_001349617.1:c.-51C>A, NM_001349617.1:c.-51C>T, NM_001349620.1:c.-51C>A, NM_001349620.1:c.-51C>T, NM_001349621.1:c.-51C>A, NM_001349621.1:c.-51C>T, NM_001349623.1:c.-51C>A, NM_001349623.1:c.-51C>T, XM_011541086.4:c.2878C>A, XM_011541086.4:c.2878C>T, XM_011541086.3:c.2878C>A, XM_011541086.3:c.2878C>T, XM_011541086.2:c.2878C>A, XM_011541086.2:c.2878C>T, XM_011541086.1:c.2878C>A, XM_011541086.1:c.2878C>T, XM_011541090.4:c.2878C>A, XM_011541090.4:c.2878C>T, XM_011541090.3:c.2878C>A, XM_011541090.3:c.2878C>T, XM_011541090.2:c.2878C>A, XM_011541090.2:c.2878C>T, XM_011541090.1:c.2878C>A, XM_011541090.1:c.2878C>T, XM_011541092.4:c.2878C>A, XM_011541092.4:c.2878C>T, XM_011541092.3:c.2878C>A, XM_011541092.3:c.2878C>T, XM_011541092.2:c.2878C>A, XM_011541092.2:c.2878C>T, XM_011541092.1:c.2878C>A, XM_011541092.1:c.2878C>T, XM_011541084.3:c.2878C>A, XM_011541084.3:c.2878C>T, XM_011541084.2:c.2878C>A, XM_011541084.2:c.2878C>T, XM_011541084.1:c.2878C>A, XM_011541084.1:c.2878C>T, XM_011541083.3:c.2878C>A, XM_011541083.3:c.2878C>T, XM_011541083.2:c.2878C>A, XM_011541083.2:c.2878C>T, XM_011541083.1:c.2878C>A, XM_011541083.1:c.2878C>T, XM_011541088.3:c.2788C>A, XM_011541088.3:c.2788C>T, XM_011541088.2:c.2788C>A, XM_011541088.2:c.2788C>T, XM_011541088.1:c.2788C>A, XM_011541088.1:c.2788C>T, XM_011541087.3:c.2806C>A, XM_011541087.3:c.2806C>T, XM_011541087.2:c.2806C>A, XM_011541087.2:c.2806C>T, XM_011541087.1:c.2806C>A, XM_011541087.1:c.2806C>T, XM_017000774.3:c.2878C>A, XM_017000774.3:c.2878C>T, XM_017000774.2:c.2878C>A, XM_017000774.2:c.2878C>T, XM_017000774.1:c.2878C>A, XM_017000774.1:c.2878C>T, XM_011541091.3:c.2878C>A, XM_011541091.3:c.2878C>T, XM_011541091.2:c.2878C>A, XM_011541091.2:c.2878C>T, XM_011541091.1:c.2878C>A, XM_011541091.1:c.2878C>T, XM_017000778.2:c.2878C>A, XM_017000778.2:c.2878C>T, XM_017000778.1:c.2878C>A, XM_017000778.1:c.2878C>T, XM_017000777.2:c.2878C>A, XM_017000777.2:c.2878C>T, XM_024454329.2:c.139C>A, XM_024454329.2:c.139C>T, XM_024454329.1:c.139C>A, XM_024454329.1:c.139C>T, XM_024454330.2:c.139C>A, XM_024454330.2:c.139C>T, XM_024454330.1:c.139C>A, XM_024454330.1:c.139C>T, XM_047415988.1:c.2866C>A, XM_047415988.1:c.2866C>T, XM_047416009.1:c.2560C>A, XM_047416009.1:c.2560C>T, XM_047415999.1:c.2788C>A, XM_047415999.1:c.2788C>T, XM_047415997.1:c.2806C>A, XM_047415997.1:c.2806C>T, XM_047416005.1:c.2716C>A, XM_047416005.1:c.2716C>T, XM_047416020.1:c.2806C>A, XM_047416020.1:c.2806C>T, XM_047416024.1:c.2716C>A, XM_047416024.1:c.2716C>T, XM_047415993.1:c.2878C>A, XM_047415993.1:c.2878C>T, XM_024454334.1:c.-51C>A, XM_024454334.1:c.-51C>T, NP_056030.1:p.Leu960Ile, NP_056030.1:p.Leu960Phe, NP_001336537.1:p.Leu930Ile, NP_001336537.1:p.Leu930Phe, NP_001336539.1:p.Leu960Ile, NP_001336539.1:p.Leu960Phe, NP_001336538.1:p.Leu960Ile, NP_001336538.1:p.Leu960Phe, NP_001336541.1:p.Leu930Ile, NP_001336541.1:p.Leu930Phe, XP_011539388.1:p.Leu960Ile, XP_011539388.1:p.Leu960Phe, XP_011539392.1:p.Leu960Ile, XP_011539392.1:p.Leu960Phe, XP_011539394.1:p.Leu960Ile, XP_011539394.1:p.Leu960Phe, XP_011539386.1:p.Leu960Ile, XP_011539386.1:p.Leu960Phe, XP_011539385.1:p.Leu960Ile, XP_011539385.1:p.Leu960Phe, XP_011539390.1:p.Leu930Ile, XP_011539390.1:p.Leu930Phe, XP_011539389.1:p.Leu936Ile, XP_011539389.1:p.Leu936Phe, XP_016856263.1:p.Leu960Ile, XP_016856263.1:p.Leu960Phe, XP_011539393.1:p.Leu960Ile, XP_011539393.1:p.Leu960Phe, XP_016856267.1:p.Leu960Ile, XP_016856267.1:p.Leu960Phe, XP_016856266.1:p.Leu960Ile, XP_016856266.1:p.Leu960Phe, XP_024310097.1:p.Leu47Ile, XP_024310097.1:p.Leu47Phe, XP_024310098.1:p.Leu47Ile, XP_024310098.1:p.Leu47Phe, XP_047271944.1:p.Leu956Ile, XP_047271944.1:p.Leu956Phe, XP_047271965.1:p.Leu854Ile, XP_047271965.1:p.Leu854Phe, XP_047271955.1:p.Leu930Ile, XP_047271955.1:p.Leu930Phe, XP_047271953.1:p.Leu936Ile, XP_047271953.1:p.Leu936Phe, XP_047271961.1:p.Leu906Ile, XP_047271961.1:p.Leu906Phe, XP_047271976.1:p.Leu936Ile, XP_047271976.1:p.Leu936Phe, XP_047271980.1:p.Leu906Ile, XP_047271980.1:p.Leu906Phe, XP_047271949.1:p.Leu960Ile, XP_047271949.1:p.Leu960Phe

                                    18.

                                    rs1475446997 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      1:7744900 (GRCh38)
                                      1:7804960 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:7744899:T:A
                                      Gene:
                                      CAMTA1 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_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_000001.11:g.7744900T>A, NC_000001.10:g.7804960T>A, NG_053148.1:g.964577T>A, NM_015215.4:c.4248T>A, NM_015215.3:c.4248T>A, NM_015215.2:c.4248T>A, NM_001349624.3:c.981T>A, NM_001349624.2:c.981T>A, NM_001349624.1:c.981T>A, NM_001349608.2:c.4158T>A, NM_001349608.1:c.4158T>A, NM_001349610.2:c.3909T>A, NM_001349610.1:c.3909T>A, NM_001349609.2:c.3909T>A, NM_001349609.1:c.3909T>A, NM_001349612.2:c.3819T>A, NM_001349612.1:c.3819T>A, NM_001349616.2:c.1320T>A, NM_001349616.1:c.1320T>A, NM_001349618.2:c.1320T>A, NM_001349618.1:c.1320T>A, NM_001349615.2:c.1320T>A, NM_001349615.1:c.1320T>A, NM_001349625.2:c.981T>A, NM_001349625.1:c.981T>A, NM_001349619.2:c.981T>A, NM_001349619.1:c.981T>A, NM_001349626.2:c.981T>A, NM_001349626.1:c.981T>A, NM_001349622.2:c.981T>A, NM_001349622.1:c.981T>A, NM_001410737.1:c.3909T>A, NM_001410738.1:c.3837T>A, NM_001349614.1:c.1320T>A, NM_001349617.1:c.1320T>A, NM_001349613.1:c.1377T>A, NM_001349620.1:c.981T>A, NM_001349621.1:c.981T>A, NM_001349623.1:c.981T>A, XM_011541086.4:c.4248T>A, XM_011541086.3:c.4248T>A, XM_011541086.2:c.4248T>A, XM_011541086.1:c.4248T>A, XM_011541090.4:c.3909T>A, XM_011541090.3:c.3909T>A, XM_011541090.2:c.3909T>A, XM_011541090.1:c.3909T>A, XM_011541084.3:c.4248T>A, XM_011541084.2:c.4248T>A, XM_011541084.1:c.4248T>A, XM_011541083.3:c.4248T>A, XM_011541083.2:c.4248T>A, XM_011541083.1:c.4248T>A, XM_011541088.3:c.4158T>A, XM_011541088.2:c.4158T>A, XM_011541088.1:c.4158T>A, XM_011541087.3:c.4176T>A, XM_011541087.2:c.4176T>A, XM_011541087.1:c.4176T>A, XM_017000774.3:c.4248T>A, XM_017000774.2:c.4248T>A, XM_017000774.1:c.4248T>A, XM_024454331.2:c.1320T>A, XM_024454331.1:c.1320T>A, XM_017000778.2:c.3909T>A, XM_017000778.1:c.3909T>A, XM_017000777.2:c.3909T>A, XM_024454333.2:c.1320T>A, XM_024454333.1:c.1320T>A, XM_024454329.2:c.1509T>A, XM_024454329.1:c.1509T>A, XM_024454330.2:c.1509T>A, XM_024454330.1:c.1509T>A, XM_024454332.2:c.1320T>A, XM_024454332.1:c.1320T>A, XM_047415988.1:c.4236T>A, XM_047416009.1:c.3930T>A, XM_047415999.1:c.4158T>A, XM_047415997.1:c.4176T>A, XM_047416005.1:c.4086T>A, XM_047416020.1:c.3837T>A, XM_047416024.1:c.3747T>A, XM_047415993.1:c.4248T>A, XM_024454334.1:c.1320T>A, NP_056030.1:p.Asn1416Lys, NP_001336553.1:p.Asn327Lys, NP_001336537.1:p.Asn1386Lys, NP_001336539.1:p.Asn1303Lys, NP_001336538.1:p.Asn1303Lys, NP_001336541.1:p.Asn1273Lys, NP_001336545.1:p.Asn440Lys, NP_001336547.1:p.Asn440Lys, NP_001336544.1:p.Asn440Lys, NP_001336554.1:p.Asn327Lys, NP_001336548.1:p.Asn327Lys, NP_001336555.1:p.Asn327Lys, NP_001336551.1:p.Asn327Lys, NP_001336543.1:p.Asn440Lys, NP_001336546.1:p.Asn440Lys, NP_001336542.1:p.Asn459Lys, NP_001336549.1:p.Asn327Lys, NP_001336550.1:p.Asn327Lys, NP_001336552.1:p.Asn327Lys, XP_011539388.1:p.Asn1416Lys, XP_011539392.1:p.Asn1303Lys, XP_011539386.1:p.Asn1416Lys, XP_011539385.1:p.Asn1416Lys, XP_011539390.1:p.Asn1386Lys, XP_011539389.1:p.Asn1392Lys, XP_016856263.1:p.Asn1416Lys, XP_024310099.1:p.Asn440Lys, XP_016856267.1:p.Asn1303Lys, XP_016856266.1:p.Asn1303Lys, XP_024310101.1:p.Asn440Lys, XP_024310097.1:p.Asn503Lys, XP_024310098.1:p.Asn503Lys, XP_024310100.1:p.Asn440Lys, XP_047271944.1:p.Asn1412Lys, XP_047271965.1:p.Asn1310Lys, XP_047271955.1:p.Asn1386Lys, XP_047271953.1:p.Asn1392Lys, XP_047271961.1:p.Asn1362Lys, XP_047271976.1:p.Asn1279Lys, XP_047271980.1:p.Asn1249Lys, XP_047271949.1:p.Asn1416Lys, XP_024310102.1:p.Asn440Lys

                                      19.

                                      rs1474516392 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        1:7663521 (GRCh38)
                                        1:7723581 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:7663520:A:C,NC_000001.11:7663520:A:G
                                        Gene:
                                        CAMTA1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.7663521A>C, NC_000001.11:g.7663521A>G, NC_000001.10:g.7723581A>C, NC_000001.10:g.7723581A>G, NG_053148.1:g.883198A>C, NG_053148.1:g.883198A>G, NM_015215.4:c.974A>C, NM_015215.4:c.974A>G, NM_015215.3:c.974A>C, NM_015215.3:c.974A>G, NM_015215.2:c.974A>C, NM_015215.2:c.974A>G, NM_001349608.2:c.884A>C, NM_001349608.2:c.884A>G, NM_001349608.1:c.884A>C, NM_001349608.1:c.884A>G, NM_001349610.2:c.974A>C, NM_001349610.2:c.974A>G, NM_001349610.1:c.974A>C, NM_001349610.1:c.974A>G, NM_001349609.2:c.974A>C, NM_001349609.2:c.974A>G, NM_001349609.1:c.974A>C, NM_001349609.1:c.974A>G, NM_001349612.2:c.884A>C, NM_001349612.2:c.884A>G, NM_001349612.1:c.884A>C, NM_001349612.1:c.884A>G, NM_001410737.1:c.974A>C, NM_001410737.1:c.974A>G, NM_001410738.1:c.902A>C, NM_001410738.1:c.902A>G, XM_011541086.4:c.974A>C, XM_011541086.4:c.974A>G, XM_011541086.3:c.974A>C, XM_011541086.3:c.974A>G, XM_011541086.2:c.974A>C, XM_011541086.2:c.974A>G, XM_011541086.1:c.974A>C, XM_011541086.1:c.974A>G, XM_011541090.4:c.974A>C, XM_011541090.4:c.974A>G, XM_011541090.3:c.974A>C, XM_011541090.3:c.974A>G, XM_011541090.2:c.974A>C, XM_011541090.2:c.974A>G, XM_011541090.1:c.974A>C, XM_011541090.1:c.974A>G, XM_011541092.4:c.974A>C, XM_011541092.4:c.974A>G, XM_011541092.3:c.974A>C, XM_011541092.3:c.974A>G, XM_011541092.2:c.974A>C, XM_011541092.2:c.974A>G, XM_011541092.1:c.974A>C, XM_011541092.1:c.974A>G, XM_011541084.3:c.974A>C, XM_011541084.3:c.974A>G, XM_011541084.2:c.974A>C, XM_011541084.2:c.974A>G, XM_011541084.1:c.974A>C, XM_011541084.1:c.974A>G, XM_011541083.3:c.974A>C, XM_011541083.3:c.974A>G, XM_011541083.2:c.974A>C, XM_011541083.2:c.974A>G, XM_011541083.1:c.974A>C, XM_011541083.1:c.974A>G, XM_011541088.3:c.884A>C, XM_011541088.3:c.884A>G, XM_011541088.2:c.884A>C, XM_011541088.2:c.884A>G, XM_011541088.1:c.884A>C, XM_011541088.1:c.884A>G, XM_011541087.3:c.902A>C, XM_011541087.3:c.902A>G, XM_011541087.2:c.902A>C, XM_011541087.2:c.902A>G, XM_011541087.1:c.902A>C, XM_011541087.1:c.902A>G, XM_017000774.3:c.974A>C, XM_017000774.3:c.974A>G, XM_017000774.2:c.974A>C, XM_017000774.2:c.974A>G, XM_017000774.1:c.974A>C, XM_017000774.1:c.974A>G, XM_011541091.3:c.974A>C, XM_011541091.3:c.974A>G, XM_011541091.2:c.974A>C, XM_011541091.2:c.974A>G, XM_011541091.1:c.974A>C, XM_011541091.1:c.974A>G, XM_017000778.2:c.974A>C, XM_017000778.2:c.974A>G, XM_017000778.1:c.974A>C, XM_017000778.1:c.974A>G, XM_017000777.2:c.974A>C, XM_017000777.2:c.974A>G, XM_047415988.1:c.962A>C, XM_047415988.1:c.962A>G, XM_047416009.1:c.656A>C, XM_047416009.1:c.656A>G, XM_047415999.1:c.884A>C, XM_047415999.1:c.884A>G, XM_047415997.1:c.902A>C, XM_047415997.1:c.902A>G, XM_047416005.1:c.812A>C, XM_047416005.1:c.812A>G, XM_047416020.1:c.902A>C, XM_047416020.1:c.902A>G, XM_047416024.1:c.812A>C, XM_047416024.1:c.812A>G, XM_047415993.1:c.974A>C, XM_047415993.1:c.974A>G, NP_056030.1:p.Lys325Thr, NP_056030.1:p.Lys325Arg, NP_001336537.1:p.Lys295Thr, NP_001336537.1:p.Lys295Arg, NP_001336539.1:p.Lys325Thr, NP_001336539.1:p.Lys325Arg, NP_001336538.1:p.Lys325Thr, NP_001336538.1:p.Lys325Arg, NP_001336541.1:p.Lys295Thr, NP_001336541.1:p.Lys295Arg, XP_011539388.1:p.Lys325Thr, XP_011539388.1:p.Lys325Arg, XP_011539392.1:p.Lys325Thr, XP_011539392.1:p.Lys325Arg, XP_011539394.1:p.Lys325Thr, XP_011539394.1:p.Lys325Arg, XP_011539386.1:p.Lys325Thr, XP_011539386.1:p.Lys325Arg, XP_011539385.1:p.Lys325Thr, XP_011539385.1:p.Lys325Arg, XP_011539390.1:p.Lys295Thr, XP_011539390.1:p.Lys295Arg, XP_011539389.1:p.Lys301Thr, XP_011539389.1:p.Lys301Arg, XP_016856263.1:p.Lys325Thr, XP_016856263.1:p.Lys325Arg, XP_011539393.1:p.Lys325Thr, XP_011539393.1:p.Lys325Arg, XP_016856267.1:p.Lys325Thr, XP_016856267.1:p.Lys325Arg, XP_016856266.1:p.Lys325Thr, XP_016856266.1:p.Lys325Arg, XP_047271944.1:p.Lys321Thr, XP_047271944.1:p.Lys321Arg, XP_047271965.1:p.Lys219Thr, XP_047271965.1:p.Lys219Arg, XP_047271955.1:p.Lys295Thr, XP_047271955.1:p.Lys295Arg, XP_047271953.1:p.Lys301Thr, XP_047271953.1:p.Lys301Arg, XP_047271961.1:p.Lys271Thr, XP_047271961.1:p.Lys271Arg, XP_047271976.1:p.Lys301Thr, XP_047271976.1:p.Lys301Arg, XP_047271980.1:p.Lys271Thr, XP_047271980.1:p.Lys271Arg, XP_047271949.1:p.Lys325Thr, XP_047271949.1:p.Lys325Arg

                                        20.

                                        rs1473874858 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:7664197 (GRCh38)
                                          1:7724257 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:7664196:C:T
                                          Gene:
                                          CAMTA1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000087/2 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          T=0.00002/5 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.7664197C>T, NC_000001.10:g.7724257C>T, NG_053148.1:g.883874C>T, NM_015215.4:c.1650C>T, NM_015215.3:c.1650C>T, NM_015215.2:c.1650C>T, NM_001349608.2:c.1560C>T, NM_001349608.1:c.1560C>T, NM_001349610.2:c.1650C>T, NM_001349610.1:c.1650C>T, NM_001349609.2:c.1650C>T, NM_001349609.1:c.1650C>T, NM_001349612.2:c.1560C>T, NM_001349612.1:c.1560C>T, NM_001410737.1:c.1650C>T, NM_001410738.1:c.1578C>T, XM_011541086.4:c.1650C>T, XM_011541086.3:c.1650C>T, XM_011541086.2:c.1650C>T, XM_011541086.1:c.1650C>T, XM_011541090.4:c.1650C>T, XM_011541090.3:c.1650C>T, XM_011541090.2:c.1650C>T, XM_011541090.1:c.1650C>T, XM_011541092.4:c.1650C>T, XM_011541092.3:c.1650C>T, XM_011541092.2:c.1650C>T, XM_011541092.1:c.1650C>T, XM_011541084.3:c.1650C>T, XM_011541084.2:c.1650C>T, XM_011541084.1:c.1650C>T, XM_011541083.3:c.1650C>T, XM_011541083.2:c.1650C>T, XM_011541083.1:c.1650C>T, XM_011541088.3:c.1560C>T, XM_011541088.2:c.1560C>T, XM_011541088.1:c.1560C>T, XM_011541087.3:c.1578C>T, XM_011541087.2:c.1578C>T, XM_011541087.1:c.1578C>T, XM_017000774.3:c.1650C>T, XM_017000774.2:c.1650C>T, XM_017000774.1:c.1650C>T, XM_011541091.3:c.1650C>T, XM_011541091.2:c.1650C>T, XM_011541091.1:c.1650C>T, XM_017000778.2:c.1650C>T, XM_017000778.1:c.1650C>T, XM_017000777.2:c.1650C>T, XM_047415988.1:c.1638C>T, XM_047416009.1:c.1332C>T, XM_047415999.1:c.1560C>T, XM_047415997.1:c.1578C>T, XM_047416005.1:c.1488C>T, XM_047416020.1:c.1578C>T, XM_047416024.1:c.1488C>T, XM_047415993.1:c.1650C>T

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