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Items: 1 to 20 of 814

1.

rs1489392312 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    22:50439732 (GRCh38)
    22:50878161 (GRCh37)
    Canonical SPDI:
    NC_000022.11:50439731:A:G
    Gene:
    PPP6R2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.50439732A>G, NC_000022.10:g.50878161A>G, NG_054883.1:g.101416A>G, NM_014678.5:c.2079A>G, NM_014678.4:c.2079A>G, NM_001351643.2:c.2160A>G, NM_001351643.1:c.2160A>G, NM_001351645.2:c.2079A>G, NM_001351645.1:c.2079A>G, NM_001351642.2:c.2163A>G, NM_001351642.1:c.2163A>G, NM_001351641.2:c.2163A>G, NM_001351641.1:c.2163A>G, NM_001242898.2:c.2160A>G, NM_001242898.1:c.2160A>G, NM_001351647.2:c.1674A>G, NM_001351647.1:c.1674A>G, NM_001351644.2:c.2082A>G, NM_001351644.1:c.2082A>G, NM_001242899.2:c.2082A>G, NM_001242899.1:c.2082A>G, NM_001242900.2:c.2082A>G, NM_001242900.1:c.2082A>G, NM_001351646.2:c.2076A>G, NM_001351646.1:c.2076A>G, NM_001351648.2:c.1593A>G, NM_001351648.1:c.1593A>G, NM_001365836.1:c.2160A>G, XM_011530736.4:c.2166A>G, XM_011530736.3:c.2166A>G, XM_011530736.2:c.2166A>G, XM_011530736.1:c.2166A>G, XM_006724431.4:c.2163A>G, XM_006724431.3:c.2163A>G, XM_006724431.2:c.2163A>G, XM_006724431.1:c.2163A>G, XM_011530737.3:c.2166A>G, XM_011530737.2:c.2166A>G, XM_011530737.1:c.2166A>G, XM_011530732.3:c.2232A>G, XM_011530732.2:c.2232A>G, XM_011530732.1:c.2232A>G, XM_011530734.3:c.2232A>G, XM_011530734.2:c.2232A>G, XM_011530734.1:c.2232A>G, XM_011530721.3:c.2229A>G, XM_011530721.2:c.2229A>G, XM_011530721.1:c.2229A>G, XM_011530720.3:c.2229A>G, XM_011530720.2:c.2229A>G, XM_011530720.1:c.2229A>G, XM_011530722.3:c.2226A>G, XM_011530722.2:c.2226A>G, XM_011530722.1:c.2226A>G, XM_011530723.3:c.2232A>G, XM_011530723.2:c.2232A>G, XM_011530723.1:c.2232A>G, XM_011530724.3:c.2229A>G, XM_011530724.2:c.2229A>G, XM_011530724.1:c.2229A>G, XM_011530739.3:c.2166A>G, XM_011530739.2:c.2166A>G, XM_011530739.1:c.2166A>G, XM_011530726.3:c.2151A>G, XM_011530726.2:c.2151A>G, XM_011530726.1:c.2151A>G, XM_011530727.3:c.2148A>G, XM_011530727.2:c.2148A>G, XM_011530727.1:c.2148A>G, XM_011530728.3:c.2151A>G, XM_011530728.2:c.2151A>G, XM_011530728.1:c.2151A>G, XM_011530730.3:c.2148A>G, XM_011530730.2:c.2148A>G, XM_011530730.1:c.2148A>G, XM_011530729.3:c.2148A>G, XM_011530729.2:c.2148A>G, XM_011530729.1:c.2148A>G, XM_011530740.3:c.1962A>G, XM_011530740.2:c.1962A>G, XM_011530740.1:c.1962A>G, XM_017029120.2:c.2226A>G, XM_017029120.1:c.2226A>G, XM_024452306.2:c.2229A>G, XM_024452306.1:c.2229A>G, XM_017029116.2:c.2145A>G, XM_017029116.1:c.2145A>G, XM_011530731.2:c.2145A>G, XM_011530731.1:c.2145A>G, XM_017029133.2:c.1680A>G, XM_017029133.1:c.1680A>G, XM_047441645.1:c.2349A>G, XM_047441659.1:c.2145A>G, XM_047441653.1:c.2226A>G, XM_047441648.1:c.2229A>G, XM_047441646.1:c.2229A>G, XM_047441642.1:c.2229A>G, XM_047441647.1:c.2229A>G, XM_047441651.1:c.2226A>G, XM_047441655.1:c.2145A>G, XM_047441656.1:c.2148A>G, XM_047441658.1:c.2145A>G, XM_047441643.1:c.2229A>G, XM_047441644.1:c.2226A>G, XM_047441650.1:c.2229A>G, XM_047441649.1:c.2229A>G, XM_047441652.1:c.2226A>G, XM_047441654.1:c.2226A>G, XM_047441660.1:c.2145A>G, XM_047441657.1:c.2148A>G, XM_047441661.1:c.2145A>G, XM_047441638.1:c.2232A>G, XM_047441639.1:c.2226A>G, XM_047441641.1:c.2148A>G, XM_047441662.1:c.1398A>G, XM_047441640.1:c.2232A>G, XM_047441663.1:c.1356A>G

    2.

    rs1485127947 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      22:50444232 (GRCh38)
      22:50882661 (GRCh37)
      Canonical SPDI:
      NC_000022.11:50444231:A:G
      Gene:
      PPP6R2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,terminator_codon_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.50444232A>G, NC_000022.10:g.50882661A>G, NG_054883.1:g.105916A>G, NM_014678.5:c.2784A>G, NM_014678.4:c.2784A>G, NM_001351643.2:c.2865A>G, NM_001351643.1:c.2865A>G, NM_001351645.2:c.2784A>G, NM_001351645.1:c.2784A>G, NM_001351642.2:c.2868A>G, NM_001351642.1:c.2868A>G, NM_001351641.2:c.2868A>G, NM_001351641.1:c.2868A>G, NM_001242898.2:c.2865A>G, NM_001242898.1:c.2865A>G, NM_001351647.2:c.2379A>G, NM_001351647.1:c.2379A>G, NM_001351644.2:c.2787A>G, NM_001351644.1:c.2787A>G, NM_001242899.2:c.2787A>G, NM_001242899.1:c.2787A>G, NM_001242900.2:c.2783A>G, NM_001242900.1:c.2783A>G, NM_001351646.2:c.2781A>G, NM_001351646.1:c.2781A>G, NM_001351648.2:c.2298A>G, NM_001351648.1:c.2298A>G, NM_001365836.1:c.2886A>G, NG_041810.1:g.35840T>C, XM_011530736.4:c.2892A>G, XM_011530736.3:c.2892A>G, XM_011530736.2:c.2892A>G, XM_011530736.1:c.2892A>G, XM_006724431.4:c.2889A>G, XM_006724431.3:c.2889A>G, XM_006724431.2:c.2889A>G, XM_006724431.1:c.2889A>G, XM_011530737.3:c.2892A>G, XM_011530737.2:c.2892A>G, XM_011530737.1:c.2892A>G, XM_011530732.3:c.2958A>G, XM_011530732.2:c.2958A>G, XM_011530732.1:c.2958A>G, XM_011530734.3:c.2958A>G, XM_011530734.2:c.2958A>G, XM_011530734.1:c.2958A>G, XM_011530721.3:c.2955A>G, XM_011530721.2:c.2955A>G, XM_011530721.1:c.2955A>G, XM_011530720.3:c.2955A>G, XM_011530720.2:c.2955A>G, XM_011530720.1:c.2955A>G, XM_011530722.3:c.2952A>G, XM_011530722.2:c.2952A>G, XM_011530722.1:c.2952A>G, XM_011530723.3:c.2937A>G, XM_011530723.2:c.2937A>G, XM_011530723.1:c.2937A>G, XM_011530724.3:c.2934A>G, XM_011530724.2:c.2934A>G, XM_011530724.1:c.2934A>G, XM_011530739.3:c.2892A>G, XM_011530739.2:c.2892A>G, XM_011530739.1:c.2892A>G, XM_011530726.3:c.2877A>G, XM_011530726.2:c.2877A>G, XM_011530726.1:c.2877A>G, XM_011530727.3:c.2874A>G, XM_011530727.2:c.2874A>G, XM_011530727.1:c.2874A>G, XM_011530728.3:c.2856A>G, XM_011530728.2:c.2856A>G, XM_011530728.1:c.2856A>G, XM_011530730.3:c.2853A>G, XM_011530730.2:c.2853A>G, XM_011530730.1:c.2853A>G, XM_011530729.3:c.2853A>G, XM_011530729.2:c.2853A>G, XM_011530729.1:c.2853A>G, XM_011530740.3:c.2688A>G, XM_011530740.2:c.2688A>G, XM_011530740.1:c.2688A>G, XM_017029120.2:c.2931A>G, XM_017029120.1:c.2931A>G, XM_024452306.2:c.2934A>G, XM_024452306.1:c.2934A>G, XM_017029116.2:c.2871A>G, XM_017029116.1:c.2871A>G, XM_011530731.2:c.2850A>G, XM_011530731.1:c.2850A>G, XM_017029133.2:c.2406A>G, XM_017029133.1:c.2406A>G, XM_047441645.1:c.3054A>G, XM_047441659.1:c.2850A>G, XM_047441653.1:c.2931A>G, XM_047441648.1:c.2934A>G, XM_047441646.1:c.2934A>G, XM_047441642.1:c.2955A>G, XM_047441647.1:c.2934A>G, XM_047441651.1:c.2931A>G, XM_047441655.1:c.2871A>G, XM_047441656.1:c.2853A>G, XM_047441658.1:c.2850A>G, XM_047441643.1:c.2955A>G, XM_047441644.1:c.2952A>G, XM_047441650.1:c.2934A>G, XM_047441649.1:c.2934A>G, XM_047441652.1:c.2931A>G, XM_047441654.1:c.2931A>G, XM_047441660.1:c.2850A>G, XM_047441657.1:c.2853A>G, XM_047441661.1:c.2850A>G, XM_047441638.1:c.2958A>G, XM_047441639.1:c.2931A>G, XM_047441641.1:c.2874A>G, XM_047441662.1:c.2103A>G, XM_047441663.1:c.2061A>G

      3.

      rs1485035580 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        22:50416115 (GRCh38)
        22:50854544 (GRCh37)
        Canonical SPDI:
        NC_000022.11:50416114:C:A
        Gene:
        PPP6R2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.50416115C>A, NC_000022.10:g.50854544C>A, NG_054883.1:g.77799C>A, NM_014678.5:c.576C>A, NM_014678.4:c.576C>A, NM_001351643.2:c.576C>A, NM_001351643.1:c.576C>A, NM_001351645.2:c.576C>A, NM_001351645.1:c.576C>A, NM_001351642.2:c.576C>A, NM_001351642.1:c.576C>A, NM_001351641.2:c.576C>A, NM_001351641.1:c.576C>A, NM_001242898.2:c.576C>A, NM_001242898.1:c.576C>A, NM_001351647.2:c.90C>A, NM_001351647.1:c.90C>A, NM_001351644.2:c.576C>A, NM_001351644.1:c.576C>A, NM_001242899.2:c.576C>A, NM_001242899.1:c.576C>A, NM_001242900.2:c.576C>A, NM_001242900.1:c.576C>A, NM_001351646.2:c.576C>A, NM_001351646.1:c.576C>A, NM_001351648.2:c.90C>A, NM_001351648.1:c.90C>A, NM_001365836.1:c.576C>A, XM_011530736.4:c.576C>A, XM_011530736.3:c.576C>A, XM_011530736.2:c.576C>A, XM_011530736.1:c.576C>A, XM_006724431.4:c.576C>A, XM_006724431.3:c.576C>A, XM_006724431.2:c.576C>A, XM_006724431.1:c.576C>A, XM_011530737.3:c.576C>A, XM_011530737.2:c.576C>A, XM_011530737.1:c.576C>A, XM_011530732.3:c.642C>A, XM_011530732.2:c.642C>A, XM_011530732.1:c.642C>A, XM_011530734.3:c.642C>A, XM_011530734.2:c.642C>A, XM_011530734.1:c.642C>A, XM_011530721.3:c.642C>A, XM_011530721.2:c.642C>A, XM_011530721.1:c.642C>A, XM_011530720.3:c.642C>A, XM_011530720.2:c.642C>A, XM_011530720.1:c.642C>A, XM_011530722.3:c.642C>A, XM_011530722.2:c.642C>A, XM_011530722.1:c.642C>A, XM_011530723.3:c.642C>A, XM_011530723.2:c.642C>A, XM_011530723.1:c.642C>A, XM_011530724.3:c.642C>A, XM_011530724.2:c.642C>A, XM_011530724.1:c.642C>A, XM_011530739.3:c.576C>A, XM_011530739.2:c.576C>A, XM_011530739.1:c.576C>A, XM_011530726.3:c.642C>A, XM_011530726.2:c.642C>A, XM_011530726.1:c.642C>A, XM_011530727.3:c.642C>A, XM_011530727.2:c.642C>A, XM_011530727.1:c.642C>A, XM_011530728.3:c.642C>A, XM_011530728.2:c.642C>A, XM_011530728.1:c.642C>A, XM_011530730.3:c.642C>A, XM_011530730.2:c.642C>A, XM_011530730.1:c.642C>A, XM_011530729.3:c.642C>A, XM_011530729.2:c.642C>A, XM_011530729.1:c.642C>A, XM_011530740.3:c.372C>A, XM_011530740.2:c.372C>A, XM_011530740.1:c.372C>A, XM_017029120.2:c.642C>A, XM_017029120.1:c.642C>A, XM_024452306.2:c.642C>A, XM_024452306.1:c.642C>A, XM_017029116.2:c.642C>A, XM_017029116.1:c.642C>A, XM_011530731.2:c.642C>A, XM_011530731.1:c.642C>A, XM_017029133.2:c.90C>A, XM_017029133.1:c.90C>A, XM_047441645.1:c.762C>A, XM_047441659.1:c.642C>A, XM_047441653.1:c.642C>A, XM_047441648.1:c.642C>A, XM_047441646.1:c.642C>A, XM_047441642.1:c.642C>A, XM_047441647.1:c.642C>A, XM_047441651.1:c.642C>A, XM_047441655.1:c.642C>A, XM_047441656.1:c.642C>A, XM_047441658.1:c.642C>A, XM_047441643.1:c.642C>A, XM_047441644.1:c.642C>A, XM_047441650.1:c.642C>A, XM_047441649.1:c.642C>A, XM_047441652.1:c.642C>A, XM_047441654.1:c.642C>A, XM_047441660.1:c.642C>A, XM_047441657.1:c.642C>A, XM_047441661.1:c.642C>A, XM_047441638.1:c.642C>A, XM_047441639.1:c.642C>A, XM_047441641.1:c.642C>A, XM_047441640.1:c.642C>A, XM_047441663.1:c.-35C>A

        4.

        rs1484354095 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          22:50419461 (GRCh38)
          22:50857890 (GRCh37)
          Canonical SPDI:
          NC_000022.11:50419460:G:C
          Gene:
          PPP6R2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.50419461G>C, NC_000022.10:g.50857890G>C, NG_054883.1:g.81145G>C, NM_014678.5:c.844G>C, NM_014678.4:c.844G>C, NM_001351643.2:c.844G>C, NM_001351643.1:c.844G>C, NM_001351645.2:c.844G>C, NM_001351645.1:c.844G>C, NM_001351642.2:c.844G>C, NM_001351642.1:c.844G>C, NM_001351641.2:c.847G>C, NM_001351641.1:c.847G>C, NM_001242898.2:c.844G>C, NM_001242898.1:c.844G>C, NM_001351647.2:c.358G>C, NM_001351647.1:c.358G>C, NM_001351644.2:c.844G>C, NM_001351644.1:c.844G>C, NM_001242899.2:c.847G>C, NM_001242899.1:c.847G>C, NM_001242900.2:c.844G>C, NM_001242900.1:c.844G>C, NM_001351646.2:c.844G>C, NM_001351646.1:c.844G>C, NM_001351648.2:c.358G>C, NM_001351648.1:c.358G>C, NM_001365836.1:c.844G>C, XM_011530736.4:c.847G>C, XM_011530736.3:c.847G>C, XM_011530736.2:c.847G>C, XM_011530736.1:c.847G>C, XM_006724431.4:c.844G>C, XM_006724431.3:c.844G>C, XM_006724431.2:c.844G>C, XM_006724431.1:c.844G>C, XM_011530737.3:c.847G>C, XM_011530737.2:c.847G>C, XM_011530737.1:c.847G>C, XM_011530732.3:c.913G>C, XM_011530732.2:c.913G>C, XM_011530732.1:c.913G>C, XM_011530734.3:c.913G>C, XM_011530734.2:c.913G>C, XM_011530734.1:c.913G>C, XM_011530721.3:c.910G>C, XM_011530721.2:c.910G>C, XM_011530721.1:c.910G>C, XM_011530720.3:c.913G>C, XM_011530720.2:c.913G>C, XM_011530720.1:c.913G>C, XM_011530722.3:c.910G>C, XM_011530722.2:c.910G>C, XM_011530722.1:c.910G>C, XM_011530723.3:c.913G>C, XM_011530723.2:c.913G>C, XM_011530723.1:c.913G>C, XM_011530724.3:c.913G>C, XM_011530724.2:c.913G>C, XM_011530724.1:c.913G>C, XM_011530739.3:c.847G>C, XM_011530739.2:c.847G>C, XM_011530739.1:c.847G>C, XM_011530726.3:c.913G>C, XM_011530726.2:c.913G>C, XM_011530726.1:c.913G>C, XM_011530727.3:c.913G>C, XM_011530727.2:c.913G>C, XM_011530727.1:c.913G>C, XM_011530728.3:c.913G>C, XM_011530728.2:c.913G>C, XM_011530728.1:c.913G>C, XM_011530730.3:c.910G>C, XM_011530730.2:c.910G>C, XM_011530730.1:c.910G>C, XM_011530729.3:c.913G>C, XM_011530729.2:c.913G>C, XM_011530729.1:c.913G>C, XM_011530740.3:c.643G>C, XM_011530740.2:c.643G>C, XM_011530740.1:c.643G>C, XM_017029120.2:c.910G>C, XM_017029120.1:c.910G>C, XM_024452306.2:c.910G>C, XM_024452306.1:c.910G>C, XM_017029116.2:c.910G>C, XM_017029116.1:c.910G>C, XM_011530731.2:c.910G>C, XM_011530731.1:c.910G>C, XM_017029133.2:c.361G>C, XM_017029133.1:c.361G>C, XM_047441645.1:c.1033G>C, XM_047441659.1:c.910G>C, XM_047441653.1:c.910G>C, XM_047441648.1:c.910G>C, XM_047441646.1:c.910G>C, XM_047441642.1:c.910G>C, XM_047441647.1:c.910G>C, XM_047441651.1:c.910G>C, XM_047441655.1:c.910G>C, XM_047441656.1:c.910G>C, XM_047441658.1:c.910G>C, XM_047441643.1:c.910G>C, XM_047441644.1:c.910G>C, XM_047441650.1:c.913G>C, XM_047441649.1:c.910G>C, XM_047441652.1:c.910G>C, XM_047441654.1:c.910G>C, XM_047441660.1:c.910G>C, XM_047441657.1:c.910G>C, XM_047441661.1:c.910G>C, XM_047441638.1:c.913G>C, XM_047441639.1:c.910G>C, XM_047441641.1:c.910G>C, XM_047441662.1:c.82G>C, XM_047441640.1:c.913G>C, XM_047441663.1:c.121G>C, NP_055493.2:p.Gly282Arg, NP_001338572.1:p.Gly282Arg, NP_001338574.1:p.Gly282Arg, NP_001338571.1:p.Gly282Arg, NP_001338570.1:p.Gly283Arg, NP_001229827.1:p.Gly282Arg, NP_001338576.1:p.Gly120Arg, NP_001338573.1:p.Gly282Arg, NP_001229828.1:p.Gly283Arg, NP_001229829.1:p.Gly282Arg, NP_001338575.1:p.Gly282Arg, NP_001338577.1:p.Gly120Arg, NP_001352765.1:p.Gly282Arg, XP_011529038.1:p.Gly283Arg, XP_006724494.1:p.Gly282Arg, XP_011529039.1:p.Gly283Arg, XP_011529034.1:p.Gly305Arg, XP_011529036.1:p.Gly305Arg, XP_011529023.1:p.Gly304Arg, XP_011529022.1:p.Gly305Arg, XP_011529024.1:p.Gly304Arg, XP_011529025.1:p.Gly305Arg, XP_011529026.1:p.Gly305Arg, XP_011529041.1:p.Gly283Arg, XP_011529028.1:p.Gly305Arg, XP_011529029.1:p.Gly305Arg, XP_011529030.1:p.Gly305Arg, XP_011529032.1:p.Gly304Arg, XP_011529031.1:p.Gly305Arg, XP_011529042.1:p.Gly215Arg, XP_016884609.1:p.Gly304Arg, XP_024308074.1:p.Gly304Arg, XP_016884605.1:p.Gly304Arg, XP_011529033.1:p.Gly304Arg, XP_016884622.1:p.Gly121Arg, XP_047297601.1:p.Gly345Arg, XP_047297615.1:p.Gly304Arg, XP_047297609.1:p.Gly304Arg, XP_047297604.1:p.Gly304Arg, XP_047297602.1:p.Gly304Arg, XP_047297598.1:p.Gly304Arg, XP_047297603.1:p.Gly304Arg, XP_047297607.1:p.Gly304Arg, XP_047297611.1:p.Gly304Arg, XP_047297612.1:p.Gly304Arg, XP_047297614.1:p.Gly304Arg, XP_047297599.1:p.Gly304Arg, XP_047297600.1:p.Gly304Arg, XP_047297606.1:p.Gly305Arg, XP_047297605.1:p.Gly304Arg, XP_047297608.1:p.Gly304Arg, XP_047297610.1:p.Gly304Arg, XP_047297616.1:p.Gly304Arg, XP_047297613.1:p.Gly304Arg, XP_047297617.1:p.Gly304Arg, XP_047297594.1:p.Gly305Arg, XP_047297595.1:p.Gly304Arg, XP_047297597.1:p.Gly304Arg, XP_047297618.1:p.Gly28Arg, XP_047297596.1:p.Gly305Arg, XP_047297619.1:p.Gly41Arg

          5.

          rs1481194582 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            22:50431379 (GRCh38)
            22:50869808 (GRCh37)
            Canonical SPDI:
            NC_000022.11:50431378:C:T
            Gene:
            PPP6R2 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            HGVS:
            NC_000022.11:g.50431379C>T, NC_000022.10:g.50869808C>T, NG_054883.1:g.93063C>T, NM_014678.5:c.1332C>T, NM_014678.4:c.1332C>T, NM_001351643.2:c.1332C>T, NM_001351643.1:c.1332C>T, NM_001351645.2:c.1332C>T, NM_001351645.1:c.1332C>T, NM_001351642.2:c.1332C>T, NM_001351642.1:c.1332C>T, NM_001351641.2:c.1335C>T, NM_001351641.1:c.1335C>T, NM_001242898.2:c.1332C>T, NM_001242898.1:c.1332C>T, NM_001351647.2:c.846C>T, NM_001351647.1:c.846C>T, NM_001351644.2:c.1332C>T, NM_001351644.1:c.1332C>T, NM_001242899.2:c.1335C>T, NM_001242899.1:c.1335C>T, NM_001242900.2:c.1332C>T, NM_001242900.1:c.1332C>T, NM_001351646.2:c.1329C>T, NM_001351646.1:c.1329C>T, NM_001351648.2:c.846C>T, NM_001351648.1:c.846C>T, NM_001365836.1:c.1332C>T, XM_011530736.4:c.1335C>T, XM_011530736.3:c.1335C>T, XM_011530736.2:c.1335C>T, XM_011530736.1:c.1335C>T, XM_006724431.4:c.1332C>T, XM_006724431.3:c.1332C>T, XM_006724431.2:c.1332C>T, XM_006724431.1:c.1332C>T, XM_011530737.3:c.1335C>T, XM_011530737.2:c.1335C>T, XM_011530737.1:c.1335C>T, XM_011530732.3:c.1401C>T, XM_011530732.2:c.1401C>T, XM_011530732.1:c.1401C>T, XM_011530734.3:c.1401C>T, XM_011530734.2:c.1401C>T, XM_011530734.1:c.1401C>T, XM_011530721.3:c.1398C>T, XM_011530721.2:c.1398C>T, XM_011530721.1:c.1398C>T, XM_011530720.3:c.1401C>T, XM_011530720.2:c.1401C>T, XM_011530720.1:c.1401C>T, XM_011530722.3:c.1398C>T, XM_011530722.2:c.1398C>T, XM_011530722.1:c.1398C>T, XM_011530723.3:c.1401C>T, XM_011530723.2:c.1401C>T, XM_011530723.1:c.1401C>T, XM_011530724.3:c.1401C>T, XM_011530724.2:c.1401C>T, XM_011530724.1:c.1401C>T, XM_011530739.3:c.1335C>T, XM_011530739.2:c.1335C>T, XM_011530739.1:c.1335C>T, XM_011530726.3:c.1401C>T, XM_011530726.2:c.1401C>T, XM_011530726.1:c.1401C>T, XM_011530727.3:c.1401C>T, XM_011530727.2:c.1401C>T, XM_011530727.1:c.1401C>T, XM_011530728.3:c.1401C>T, XM_011530728.2:c.1401C>T, XM_011530728.1:c.1401C>T, XM_011530730.3:c.1398C>T, XM_011530730.2:c.1398C>T, XM_011530730.1:c.1398C>T, XM_011530729.3:c.1401C>T, XM_011530729.2:c.1401C>T, XM_011530729.1:c.1401C>T, XM_011530740.3:c.1131C>T, XM_011530740.2:c.1131C>T, XM_011530740.1:c.1131C>T, XM_017029120.2:c.1398C>T, XM_017029120.1:c.1398C>T, XM_024452306.2:c.1398C>T, XM_024452306.1:c.1398C>T, XM_017029116.2:c.1398C>T, XM_017029116.1:c.1398C>T, XM_011530731.2:c.1398C>T, XM_011530731.1:c.1398C>T, XM_017029133.2:c.849C>T, XM_017029133.1:c.849C>T, XM_047441645.1:c.1521C>T, XM_047441659.1:c.1398C>T, XM_047441653.1:c.1398C>T, XM_047441648.1:c.1398C>T, XM_047441646.1:c.1398C>T, XM_047441642.1:c.1398C>T, XM_047441647.1:c.1398C>T, XM_047441651.1:c.1398C>T, XM_047441655.1:c.1398C>T, XM_047441656.1:c.1398C>T, XM_047441658.1:c.1398C>T, XM_047441643.1:c.1398C>T, XM_047441644.1:c.1398C>T, XM_047441650.1:c.1401C>T, XM_047441649.1:c.1398C>T, XM_047441652.1:c.1398C>T, XM_047441654.1:c.1398C>T, XM_047441660.1:c.1398C>T, XM_047441657.1:c.1398C>T, XM_047441661.1:c.1398C>T, XM_047441638.1:c.1401C>T, XM_047441639.1:c.1398C>T, XM_047441641.1:c.1398C>T, XM_047441662.1:c.570C>T, XM_047441640.1:c.1401C>T, XM_047441663.1:c.609C>T

            6.

            rs1480759218 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:50436452 (GRCh38)
              22:50874881 (GRCh37)
              Canonical SPDI:
              NC_000022.11:50436451:G:A
              Gene:
              PPP6R2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              HGVS:
              NC_000022.11:g.50436452G>A, NC_000022.10:g.50874881G>A, NG_054883.1:g.98136G>A, NM_014678.5:c.1602G>A, NM_014678.4:c.1602G>A, NM_001351643.2:c.1602G>A, NM_001351643.1:c.1602G>A, NM_001351645.2:c.1602G>A, NM_001351645.1:c.1602G>A, NM_001351642.2:c.1602G>A, NM_001351642.1:c.1602G>A, NM_001351641.2:c.1605G>A, NM_001351641.1:c.1605G>A, NM_001242898.2:c.1602G>A, NM_001242898.1:c.1602G>A, NM_001351647.2:c.1116G>A, NM_001351647.1:c.1116G>A, NM_001351644.2:c.1602G>A, NM_001351644.1:c.1602G>A, NM_001242899.2:c.1605G>A, NM_001242899.1:c.1605G>A, NM_001242900.2:c.1602G>A, NM_001242900.1:c.1602G>A, NM_001351646.2:c.1599G>A, NM_001351646.1:c.1599G>A, NM_001351648.2:c.1116G>A, NM_001351648.1:c.1116G>A, NM_001365836.1:c.1602G>A, XM_011530736.4:c.1605G>A, XM_011530736.3:c.1605G>A, XM_011530736.2:c.1605G>A, XM_011530736.1:c.1605G>A, XM_006724431.4:c.1602G>A, XM_006724431.3:c.1602G>A, XM_006724431.2:c.1602G>A, XM_006724431.1:c.1602G>A, XM_011530737.3:c.1605G>A, XM_011530737.2:c.1605G>A, XM_011530737.1:c.1605G>A, XM_011530732.3:c.1671G>A, XM_011530732.2:c.1671G>A, XM_011530732.1:c.1671G>A, XM_011530734.3:c.1671G>A, XM_011530734.2:c.1671G>A, XM_011530734.1:c.1671G>A, XM_011530721.3:c.1668G>A, XM_011530721.2:c.1668G>A, XM_011530721.1:c.1668G>A, XM_011530720.3:c.1671G>A, XM_011530720.2:c.1671G>A, XM_011530720.1:c.1671G>A, XM_011530722.3:c.1668G>A, XM_011530722.2:c.1668G>A, XM_011530722.1:c.1668G>A, XM_011530723.3:c.1671G>A, XM_011530723.2:c.1671G>A, XM_011530723.1:c.1671G>A, XM_011530724.3:c.1671G>A, XM_011530724.2:c.1671G>A, XM_011530724.1:c.1671G>A, XM_011530739.3:c.1605G>A, XM_011530739.2:c.1605G>A, XM_011530739.1:c.1605G>A, XM_011530726.3:c.1671G>A, XM_011530726.2:c.1671G>A, XM_011530726.1:c.1671G>A, XM_011530727.3:c.1671G>A, XM_011530727.2:c.1671G>A, XM_011530727.1:c.1671G>A, XM_011530728.3:c.1671G>A, XM_011530728.2:c.1671G>A, XM_011530728.1:c.1671G>A, XM_011530730.3:c.1668G>A, XM_011530730.2:c.1668G>A, XM_011530730.1:c.1668G>A, XM_011530729.3:c.1671G>A, XM_011530729.2:c.1671G>A, XM_011530729.1:c.1671G>A, XM_011530740.3:c.1401G>A, XM_011530740.2:c.1401G>A, XM_011530740.1:c.1401G>A, XM_017029120.2:c.1668G>A, XM_017029120.1:c.1668G>A, XM_024452306.2:c.1668G>A, XM_024452306.1:c.1668G>A, XM_017029116.2:c.1668G>A, XM_017029116.1:c.1668G>A, XM_011530731.2:c.1668G>A, XM_011530731.1:c.1668G>A, XM_017029133.2:c.1119G>A, XM_017029133.1:c.1119G>A, XM_047441645.1:c.1791G>A, XM_047441659.1:c.1668G>A, XM_047441653.1:c.1668G>A, XM_047441648.1:c.1668G>A, XM_047441646.1:c.1668G>A, XM_047441642.1:c.1668G>A, XM_047441647.1:c.1668G>A, XM_047441651.1:c.1668G>A, XM_047441655.1:c.1668G>A, XM_047441656.1:c.1668G>A, XM_047441658.1:c.1668G>A, XM_047441643.1:c.1668G>A, XM_047441644.1:c.1668G>A, XM_047441650.1:c.1671G>A, XM_047441649.1:c.1668G>A, XM_047441652.1:c.1668G>A, XM_047441654.1:c.1668G>A, XM_047441660.1:c.1668G>A, XM_047441657.1:c.1668G>A, XM_047441661.1:c.1668G>A, XM_047441638.1:c.1671G>A, XM_047441639.1:c.1668G>A, XM_047441641.1:c.1668G>A, XM_047441662.1:c.840G>A, XM_047441640.1:c.1671G>A, XM_047441663.1:c.879G>A

              7.

              rs1480107111 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                22:50437848 (GRCh38)
                22:50876277 (GRCh37)
                Canonical SPDI:
                NC_000022.11:50437847:C:T
                Gene:
                PPP6R2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000031/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000022.11:g.50437848C>T, NC_000022.10:g.50876277C>T, NG_054883.1:g.99532C>T, NM_014678.5:c.1706C>T, NM_014678.4:c.1706C>T, NM_001351643.2:c.1787C>T, NM_001351643.1:c.1787C>T, NM_001351645.2:c.1706C>T, NM_001351645.1:c.1706C>T, NM_001351642.2:c.1787C>T, NM_001351642.1:c.1787C>T, NM_001351641.2:c.1790C>T, NM_001351641.1:c.1790C>T, NM_001242898.2:c.1787C>T, NM_001242898.1:c.1787C>T, NM_001351647.2:c.1301C>T, NM_001351647.1:c.1301C>T, NM_001351644.2:c.1706C>T, NM_001351644.1:c.1706C>T, NM_001242899.2:c.1709C>T, NM_001242899.1:c.1709C>T, NM_001242900.2:c.1706C>T, NM_001242900.1:c.1706C>T, NM_001351646.2:c.1703C>T, NM_001351646.1:c.1703C>T, NM_001351648.2:c.1220C>T, NM_001351648.1:c.1220C>T, NM_001365836.1:c.1787C>T, XM_011530736.4:c.1790C>T, XM_011530736.3:c.1790C>T, XM_011530736.2:c.1790C>T, XM_011530736.1:c.1790C>T, XM_006724431.4:c.1787C>T, XM_006724431.3:c.1787C>T, XM_006724431.2:c.1787C>T, XM_006724431.1:c.1787C>T, XM_011530737.3:c.1790C>T, XM_011530737.2:c.1790C>T, XM_011530737.1:c.1790C>T, XM_011530732.3:c.1856C>T, XM_011530732.2:c.1856C>T, XM_011530732.1:c.1856C>T, XM_011530734.3:c.1856C>T, XM_011530734.2:c.1856C>T, XM_011530734.1:c.1856C>T, XM_011530721.3:c.1853C>T, XM_011530721.2:c.1853C>T, XM_011530721.1:c.1853C>T, XM_011530720.3:c.1856C>T, XM_011530720.2:c.1856C>T, XM_011530720.1:c.1856C>T, XM_011530722.3:c.1853C>T, XM_011530722.2:c.1853C>T, XM_011530722.1:c.1853C>T, XM_011530723.3:c.1856C>T, XM_011530723.2:c.1856C>T, XM_011530723.1:c.1856C>T, XM_011530724.3:c.1856C>T, XM_011530724.2:c.1856C>T, XM_011530724.1:c.1856C>T, XM_011530739.3:c.1790C>T, XM_011530739.2:c.1790C>T, XM_011530739.1:c.1790C>T, XM_011530726.3:c.1775C>T, XM_011530726.2:c.1775C>T, XM_011530726.1:c.1775C>T, XM_011530727.3:c.1775C>T, XM_011530727.2:c.1775C>T, XM_011530727.1:c.1775C>T, XM_011530728.3:c.1775C>T, XM_011530728.2:c.1775C>T, XM_011530728.1:c.1775C>T, XM_011530730.3:c.1772C>T, XM_011530730.2:c.1772C>T, XM_011530730.1:c.1772C>T, XM_011530729.3:c.1775C>T, XM_011530729.2:c.1775C>T, XM_011530729.1:c.1775C>T, XM_011530740.3:c.1586C>T, XM_011530740.2:c.1586C>T, XM_011530740.1:c.1586C>T, XM_017029120.2:c.1853C>T, XM_017029120.1:c.1853C>T, XM_024452306.2:c.1853C>T, XM_024452306.1:c.1853C>T, XM_017029116.2:c.1772C>T, XM_017029116.1:c.1772C>T, XM_011530731.2:c.1772C>T, XM_011530731.1:c.1772C>T, XM_017029133.2:c.1304C>T, XM_017029133.1:c.1304C>T, XM_047441645.1:c.1976C>T, XM_047441659.1:c.1772C>T, XM_047441653.1:c.1853C>T, XM_047441648.1:c.1853C>T, XM_047441646.1:c.1853C>T, XM_047441642.1:c.1853C>T, XM_047441647.1:c.1853C>T, XM_047441651.1:c.1853C>T, XM_047441655.1:c.1772C>T, XM_047441656.1:c.1772C>T, XM_047441658.1:c.1772C>T, XM_047441643.1:c.1853C>T, XM_047441644.1:c.1853C>T, XM_047441650.1:c.1856C>T, XM_047441649.1:c.1853C>T, XM_047441652.1:c.1853C>T, XM_047441654.1:c.1853C>T, XM_047441660.1:c.1772C>T, XM_047441657.1:c.1772C>T, XM_047441661.1:c.1772C>T, XM_047441638.1:c.1856C>T, XM_047441639.1:c.1853C>T, XM_047441641.1:c.1772C>T, XM_047441662.1:c.1025C>T, XM_047441640.1:c.1856C>T, XM_047441663.1:c.983C>T, NP_055493.2:p.Pro569Leu, NP_001338572.1:p.Pro596Leu, NP_001338574.1:p.Pro569Leu, NP_001338571.1:p.Pro596Leu, NP_001338570.1:p.Pro597Leu, NP_001229827.1:p.Pro596Leu, NP_001338576.1:p.Pro434Leu, NP_001338573.1:p.Pro569Leu, NP_001229828.1:p.Pro570Leu, NP_001229829.1:p.Pro569Leu, NP_001338575.1:p.Pro568Leu, NP_001338577.1:p.Pro407Leu, NP_001352765.1:p.Pro596Leu, XP_011529038.1:p.Pro597Leu, XP_006724494.1:p.Pro596Leu, XP_011529039.1:p.Pro597Leu, XP_011529034.1:p.Pro619Leu, XP_011529036.1:p.Pro619Leu, XP_011529023.1:p.Pro618Leu, XP_011529022.1:p.Pro619Leu, XP_011529024.1:p.Pro618Leu, XP_011529025.1:p.Pro619Leu, XP_011529026.1:p.Pro619Leu, XP_011529041.1:p.Pro597Leu, XP_011529028.1:p.Pro592Leu, XP_011529029.1:p.Pro592Leu, XP_011529030.1:p.Pro592Leu, XP_011529032.1:p.Pro591Leu, XP_011529031.1:p.Pro592Leu, XP_011529042.1:p.Pro529Leu, XP_016884609.1:p.Pro618Leu, XP_024308074.1:p.Pro618Leu, XP_016884605.1:p.Pro591Leu, XP_011529033.1:p.Pro591Leu, XP_016884622.1:p.Pro435Leu, XP_047297601.1:p.Pro659Leu, XP_047297615.1:p.Pro591Leu, XP_047297609.1:p.Pro618Leu, XP_047297604.1:p.Pro618Leu, XP_047297602.1:p.Pro618Leu, XP_047297598.1:p.Pro618Leu, XP_047297603.1:p.Pro618Leu, XP_047297607.1:p.Pro618Leu, XP_047297611.1:p.Pro591Leu, XP_047297612.1:p.Pro591Leu, XP_047297614.1:p.Pro591Leu, XP_047297599.1:p.Pro618Leu, XP_047297600.1:p.Pro618Leu, XP_047297606.1:p.Pro619Leu, XP_047297605.1:p.Pro618Leu, XP_047297608.1:p.Pro618Leu, XP_047297610.1:p.Pro618Leu, XP_047297616.1:p.Pro591Leu, XP_047297613.1:p.Pro591Leu, XP_047297617.1:p.Pro591Leu, XP_047297594.1:p.Pro619Leu, XP_047297595.1:p.Pro618Leu, XP_047297597.1:p.Pro591Leu, XP_047297618.1:p.Pro342Leu, XP_047297596.1:p.Pro619Leu, XP_047297619.1:p.Pro328Leu

                8.

                rs1479996137 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  22:50436388 (GRCh38)
                  22:50874817 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:50436387:G:A,NC_000022.11:50436387:G:T
                  Gene:
                  PPP6R2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000022.11:g.50436388G>A, NC_000022.11:g.50436388G>T, NC_000022.10:g.50874817G>A, NC_000022.10:g.50874817G>T, NG_054883.1:g.98072G>A, NG_054883.1:g.98072G>T, NM_014678.5:c.1538G>A, NM_014678.5:c.1538G>T, NM_014678.4:c.1538G>A, NM_014678.4:c.1538G>T, NM_001351643.2:c.1538G>A, NM_001351643.2:c.1538G>T, NM_001351643.1:c.1538G>A, NM_001351643.1:c.1538G>T, NM_001351645.2:c.1538G>A, NM_001351645.2:c.1538G>T, NM_001351645.1:c.1538G>A, NM_001351645.1:c.1538G>T, NM_001351642.2:c.1538G>A, NM_001351642.2:c.1538G>T, NM_001351642.1:c.1538G>A, NM_001351642.1:c.1538G>T, NM_001351641.2:c.1541G>A, NM_001351641.2:c.1541G>T, NM_001351641.1:c.1541G>A, NM_001351641.1:c.1541G>T, NM_001242898.2:c.1538G>A, NM_001242898.2:c.1538G>T, NM_001242898.1:c.1538G>A, NM_001242898.1:c.1538G>T, NM_001351647.2:c.1052G>A, NM_001351647.2:c.1052G>T, NM_001351647.1:c.1052G>A, NM_001351647.1:c.1052G>T, NM_001351644.2:c.1538G>A, NM_001351644.2:c.1538G>T, NM_001351644.1:c.1538G>A, NM_001351644.1:c.1538G>T, NM_001242899.2:c.1541G>A, NM_001242899.2:c.1541G>T, NM_001242899.1:c.1541G>A, NM_001242899.1:c.1541G>T, NM_001242900.2:c.1538G>A, NM_001242900.2:c.1538G>T, NM_001242900.1:c.1538G>A, NM_001242900.1:c.1538G>T, NM_001351646.2:c.1535G>A, NM_001351646.2:c.1535G>T, NM_001351646.1:c.1535G>A, NM_001351646.1:c.1535G>T, NM_001351648.2:c.1052G>A, NM_001351648.2:c.1052G>T, NM_001351648.1:c.1052G>A, NM_001351648.1:c.1052G>T, NM_001365836.1:c.1538G>A, NM_001365836.1:c.1538G>T, XM_011530736.4:c.1541G>A, XM_011530736.4:c.1541G>T, XM_011530736.3:c.1541G>A, XM_011530736.3:c.1541G>T, XM_011530736.2:c.1541G>A, XM_011530736.2:c.1541G>T, XM_011530736.1:c.1541G>A, XM_011530736.1:c.1541G>T, XM_006724431.4:c.1538G>A, XM_006724431.4:c.1538G>T, XM_006724431.3:c.1538G>A, XM_006724431.3:c.1538G>T, XM_006724431.2:c.1538G>A, XM_006724431.2:c.1538G>T, XM_006724431.1:c.1538G>A, XM_006724431.1:c.1538G>T, XM_011530737.3:c.1541G>A, XM_011530737.3:c.1541G>T, XM_011530737.2:c.1541G>A, XM_011530737.2:c.1541G>T, XM_011530737.1:c.1541G>A, XM_011530737.1:c.1541G>T, XM_011530732.3:c.1607G>A, XM_011530732.3:c.1607G>T, XM_011530732.2:c.1607G>A, XM_011530732.2:c.1607G>T, XM_011530732.1:c.1607G>A, XM_011530732.1:c.1607G>T, XM_011530734.3:c.1607G>A, XM_011530734.3:c.1607G>T, XM_011530734.2:c.1607G>A, XM_011530734.2:c.1607G>T, XM_011530734.1:c.1607G>A, XM_011530734.1:c.1607G>T, XM_011530721.3:c.1604G>A, XM_011530721.3:c.1604G>T, XM_011530721.2:c.1604G>A, XM_011530721.2:c.1604G>T, XM_011530721.1:c.1604G>A, XM_011530721.1:c.1604G>T, XM_011530720.3:c.1607G>A, XM_011530720.3:c.1607G>T, XM_011530720.2:c.1607G>A, XM_011530720.2:c.1607G>T, XM_011530720.1:c.1607G>A, XM_011530720.1:c.1607G>T, XM_011530722.3:c.1604G>A, XM_011530722.3:c.1604G>T, XM_011530722.2:c.1604G>A, XM_011530722.2:c.1604G>T, XM_011530722.1:c.1604G>A, XM_011530722.1:c.1604G>T, XM_011530723.3:c.1607G>A, XM_011530723.3:c.1607G>T, XM_011530723.2:c.1607G>A, XM_011530723.2:c.1607G>T, XM_011530723.1:c.1607G>A, XM_011530723.1:c.1607G>T, XM_011530724.3:c.1607G>A, XM_011530724.3:c.1607G>T, XM_011530724.2:c.1607G>A, XM_011530724.2:c.1607G>T, XM_011530724.1:c.1607G>A, XM_011530724.1:c.1607G>T, XM_011530739.3:c.1541G>A, XM_011530739.3:c.1541G>T, XM_011530739.2:c.1541G>A, XM_011530739.2:c.1541G>T, XM_011530739.1:c.1541G>A, XM_011530739.1:c.1541G>T, XM_011530726.3:c.1607G>A, XM_011530726.3:c.1607G>T, XM_011530726.2:c.1607G>A, XM_011530726.2:c.1607G>T, XM_011530726.1:c.1607G>A, XM_011530726.1:c.1607G>T, XM_011530727.3:c.1607G>A, XM_011530727.3:c.1607G>T, XM_011530727.2:c.1607G>A, XM_011530727.2:c.1607G>T, XM_011530727.1:c.1607G>A, XM_011530727.1:c.1607G>T, XM_011530728.3:c.1607G>A, XM_011530728.3:c.1607G>T, XM_011530728.2:c.1607G>A, XM_011530728.2:c.1607G>T, XM_011530728.1:c.1607G>A, XM_011530728.1:c.1607G>T, XM_011530730.3:c.1604G>A, XM_011530730.3:c.1604G>T, XM_011530730.2:c.1604G>A, XM_011530730.2:c.1604G>T, XM_011530730.1:c.1604G>A, XM_011530730.1:c.1604G>T, XM_011530729.3:c.1607G>A, XM_011530729.3:c.1607G>T, XM_011530729.2:c.1607G>A, XM_011530729.2:c.1607G>T, XM_011530729.1:c.1607G>A, XM_011530729.1:c.1607G>T, XM_011530740.3:c.1337G>A, XM_011530740.3:c.1337G>T, XM_011530740.2:c.1337G>A, XM_011530740.2:c.1337G>T, XM_011530740.1:c.1337G>A, XM_011530740.1:c.1337G>T, XM_017029120.2:c.1604G>A, XM_017029120.2:c.1604G>T, XM_017029120.1:c.1604G>A, XM_017029120.1:c.1604G>T, XM_024452306.2:c.1604G>A, XM_024452306.2:c.1604G>T, XM_024452306.1:c.1604G>A, XM_024452306.1:c.1604G>T, XM_017029116.2:c.1604G>A, XM_017029116.2:c.1604G>T, XM_017029116.1:c.1604G>A, XM_017029116.1:c.1604G>T, XM_011530731.2:c.1604G>A, XM_011530731.2:c.1604G>T, XM_011530731.1:c.1604G>A, XM_011530731.1:c.1604G>T, XM_017029133.2:c.1055G>A, XM_017029133.2:c.1055G>T, XM_017029133.1:c.1055G>A, XM_017029133.1:c.1055G>T, XM_047441645.1:c.1727G>A, XM_047441645.1:c.1727G>T, XM_047441659.1:c.1604G>A, XM_047441659.1:c.1604G>T, XM_047441653.1:c.1604G>A, XM_047441653.1:c.1604G>T, XM_047441648.1:c.1604G>A, XM_047441648.1:c.1604G>T, XM_047441646.1:c.1604G>A, XM_047441646.1:c.1604G>T, XM_047441642.1:c.1604G>A, XM_047441642.1:c.1604G>T, XM_047441647.1:c.1604G>A, XM_047441647.1:c.1604G>T, XM_047441651.1:c.1604G>A, XM_047441651.1:c.1604G>T, XM_047441655.1:c.1604G>A, XM_047441655.1:c.1604G>T, XM_047441656.1:c.1604G>A, XM_047441656.1:c.1604G>T, XM_047441658.1:c.1604G>A, XM_047441658.1:c.1604G>T, XM_047441643.1:c.1604G>A, XM_047441643.1:c.1604G>T, XM_047441644.1:c.1604G>A, XM_047441644.1:c.1604G>T, XM_047441650.1:c.1607G>A, XM_047441650.1:c.1607G>T, XM_047441649.1:c.1604G>A, XM_047441649.1:c.1604G>T, XM_047441652.1:c.1604G>A, XM_047441652.1:c.1604G>T, XM_047441654.1:c.1604G>A, XM_047441654.1:c.1604G>T, XM_047441660.1:c.1604G>A, XM_047441660.1:c.1604G>T, XM_047441657.1:c.1604G>A, XM_047441657.1:c.1604G>T, XM_047441661.1:c.1604G>A, XM_047441661.1:c.1604G>T, XM_047441638.1:c.1607G>A, XM_047441638.1:c.1607G>T, XM_047441639.1:c.1604G>A, XM_047441639.1:c.1604G>T, XM_047441641.1:c.1604G>A, XM_047441641.1:c.1604G>T, XM_047441662.1:c.776G>A, XM_047441662.1:c.776G>T, XM_047441640.1:c.1607G>A, XM_047441640.1:c.1607G>T, XM_047441663.1:c.815G>A, XM_047441663.1:c.815G>T, NP_055493.2:p.Gly513Asp, NP_055493.2:p.Gly513Val, NP_001338572.1:p.Gly513Asp, NP_001338572.1:p.Gly513Val, NP_001338574.1:p.Gly513Asp, NP_001338574.1:p.Gly513Val, NP_001338571.1:p.Gly513Asp, NP_001338571.1:p.Gly513Val, NP_001338570.1:p.Gly514Asp, NP_001338570.1:p.Gly514Val, NP_001229827.1:p.Gly513Asp, NP_001229827.1:p.Gly513Val, NP_001338576.1:p.Gly351Asp, NP_001338576.1:p.Gly351Val, NP_001338573.1:p.Gly513Asp, NP_001338573.1:p.Gly513Val, NP_001229828.1:p.Gly514Asp, NP_001229828.1:p.Gly514Val, NP_001229829.1:p.Gly513Asp, NP_001229829.1:p.Gly513Val, NP_001338575.1:p.Gly512Asp, NP_001338575.1:p.Gly512Val, NP_001338577.1:p.Gly351Asp, NP_001338577.1:p.Gly351Val, NP_001352765.1:p.Gly513Asp, NP_001352765.1:p.Gly513Val, XP_011529038.1:p.Gly514Asp, XP_011529038.1:p.Gly514Val, XP_006724494.1:p.Gly513Asp, XP_006724494.1:p.Gly513Val, XP_011529039.1:p.Gly514Asp, XP_011529039.1:p.Gly514Val, XP_011529034.1:p.Gly536Asp, XP_011529034.1:p.Gly536Val, XP_011529036.1:p.Gly536Asp, XP_011529036.1:p.Gly536Val, XP_011529023.1:p.Gly535Asp, XP_011529023.1:p.Gly535Val, XP_011529022.1:p.Gly536Asp, XP_011529022.1:p.Gly536Val, XP_011529024.1:p.Gly535Asp, XP_011529024.1:p.Gly535Val, XP_011529025.1:p.Gly536Asp, XP_011529025.1:p.Gly536Val, XP_011529026.1:p.Gly536Asp, XP_011529026.1:p.Gly536Val, XP_011529041.1:p.Gly514Asp, XP_011529041.1:p.Gly514Val, XP_011529028.1:p.Gly536Asp, XP_011529028.1:p.Gly536Val, XP_011529029.1:p.Gly536Asp, XP_011529029.1:p.Gly536Val, XP_011529030.1:p.Gly536Asp, XP_011529030.1:p.Gly536Val, XP_011529032.1:p.Gly535Asp, XP_011529032.1:p.Gly535Val, XP_011529031.1:p.Gly536Asp, XP_011529031.1:p.Gly536Val, XP_011529042.1:p.Gly446Asp, XP_011529042.1:p.Gly446Val, XP_016884609.1:p.Gly535Asp, XP_016884609.1:p.Gly535Val, XP_024308074.1:p.Gly535Asp, XP_024308074.1:p.Gly535Val, XP_016884605.1:p.Gly535Asp, XP_016884605.1:p.Gly535Val, XP_011529033.1:p.Gly535Asp, XP_011529033.1:p.Gly535Val, XP_016884622.1:p.Gly352Asp, XP_016884622.1:p.Gly352Val, XP_047297601.1:p.Gly576Asp, XP_047297601.1:p.Gly576Val, XP_047297615.1:p.Gly535Asp, XP_047297615.1:p.Gly535Val, XP_047297609.1:p.Gly535Asp, XP_047297609.1:p.Gly535Val, XP_047297604.1:p.Gly535Asp, XP_047297604.1:p.Gly535Val, XP_047297602.1:p.Gly535Asp, XP_047297602.1:p.Gly535Val, XP_047297598.1:p.Gly535Asp, XP_047297598.1:p.Gly535Val, XP_047297603.1:p.Gly535Asp, XP_047297603.1:p.Gly535Val, XP_047297607.1:p.Gly535Asp, XP_047297607.1:p.Gly535Val, XP_047297611.1:p.Gly535Asp, XP_047297611.1:p.Gly535Val, XP_047297612.1:p.Gly535Asp, XP_047297612.1:p.Gly535Val, XP_047297614.1:p.Gly535Asp, XP_047297614.1:p.Gly535Val, XP_047297599.1:p.Gly535Asp, XP_047297599.1:p.Gly535Val, XP_047297600.1:p.Gly535Asp, XP_047297600.1:p.Gly535Val, XP_047297606.1:p.Gly536Asp, XP_047297606.1:p.Gly536Val, XP_047297605.1:p.Gly535Asp, XP_047297605.1:p.Gly535Val, XP_047297608.1:p.Gly535Asp, XP_047297608.1:p.Gly535Val, XP_047297610.1:p.Gly535Asp, XP_047297610.1:p.Gly535Val, XP_047297616.1:p.Gly535Asp, XP_047297616.1:p.Gly535Val, XP_047297613.1:p.Gly535Asp, XP_047297613.1:p.Gly535Val, XP_047297617.1:p.Gly535Asp, XP_047297617.1:p.Gly535Val, XP_047297594.1:p.Gly536Asp, XP_047297594.1:p.Gly536Val, XP_047297595.1:p.Gly535Asp, XP_047297595.1:p.Gly535Val, XP_047297597.1:p.Gly535Asp, XP_047297597.1:p.Gly535Val, XP_047297618.1:p.Gly259Asp, XP_047297618.1:p.Gly259Val, XP_047297596.1:p.Gly536Asp, XP_047297596.1:p.Gly536Val, XP_047297619.1:p.Gly272Asp, XP_047297619.1:p.Gly272Val

                  9.

                  rs1477638860 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:50440980 (GRCh38)
                    22:50879409 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:50440979:G:A
                    Gene:
                    PPP6R2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_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_000022.11:g.50440980G>A, NC_000022.10:g.50879409G>A, NG_054883.1:g.102664G>A, NM_014678.5:c.2452G>A, NM_014678.4:c.2452G>A, NM_001351643.2:c.2533G>A, NM_001351643.1:c.2533G>A, NM_001351645.2:c.2452G>A, NM_001351645.1:c.2452G>A, NM_001351642.2:c.2536G>A, NM_001351642.1:c.2536G>A, NM_001351641.2:c.2536G>A, NM_001351641.1:c.2536G>A, NM_001242898.2:c.2533G>A, NM_001242898.1:c.2533G>A, NM_001351647.2:c.2047G>A, NM_001351647.1:c.2047G>A, NM_001351644.2:c.2455G>A, NM_001351644.1:c.2455G>A, NM_001242899.2:c.2455G>A, NM_001242899.1:c.2455G>A, NM_001242900.2:c.2455G>A, NM_001242900.1:c.2455G>A, NM_001351646.2:c.2449G>A, NM_001351646.1:c.2449G>A, NM_001351648.2:c.1966G>A, NM_001351648.1:c.1966G>A, NM_001365836.1:c.2554G>A, XM_011530736.4:c.2560G>A, XM_011530736.3:c.2560G>A, XM_011530736.2:c.2560G>A, XM_011530736.1:c.2560G>A, XM_006724431.4:c.2557G>A, XM_006724431.3:c.2557G>A, XM_006724431.2:c.2557G>A, XM_006724431.1:c.2557G>A, XM_011530737.3:c.2560G>A, XM_011530737.2:c.2560G>A, XM_011530737.1:c.2560G>A, XM_011530732.3:c.2626G>A, XM_011530732.2:c.2626G>A, XM_011530732.1:c.2626G>A, XM_011530734.3:c.2626G>A, XM_011530734.2:c.2626G>A, XM_011530734.1:c.2626G>A, XM_011530721.3:c.2623G>A, XM_011530721.2:c.2623G>A, XM_011530721.1:c.2623G>A, XM_011530720.3:c.2623G>A, XM_011530720.2:c.2623G>A, XM_011530720.1:c.2623G>A, XM_011530722.3:c.2620G>A, XM_011530722.2:c.2620G>A, XM_011530722.1:c.2620G>A, XM_011530723.3:c.2605G>A, XM_011530723.2:c.2605G>A, XM_011530723.1:c.2605G>A, XM_011530724.3:c.2602G>A, XM_011530724.2:c.2602G>A, XM_011530724.1:c.2602G>A, XM_011530739.3:c.2560G>A, XM_011530739.2:c.2560G>A, XM_011530739.1:c.2560G>A, XM_011530726.3:c.2545G>A, XM_011530726.2:c.2545G>A, XM_011530726.1:c.2545G>A, XM_011530727.3:c.2542G>A, XM_011530727.2:c.2542G>A, XM_011530727.1:c.2542G>A, XM_011530728.3:c.2524G>A, XM_011530728.2:c.2524G>A, XM_011530728.1:c.2524G>A, XM_011530730.3:c.2521G>A, XM_011530730.2:c.2521G>A, XM_011530730.1:c.2521G>A, XM_011530729.3:c.2521G>A, XM_011530729.2:c.2521G>A, XM_011530729.1:c.2521G>A, XM_011530740.3:c.2356G>A, XM_011530740.2:c.2356G>A, XM_011530740.1:c.2356G>A, XM_017029120.2:c.2599G>A, XM_017029120.1:c.2599G>A, XM_024452306.2:c.2602G>A, XM_024452306.1:c.2602G>A, XM_017029116.2:c.2539G>A, XM_017029116.1:c.2539G>A, XM_011530731.2:c.2518G>A, XM_011530731.1:c.2518G>A, XM_017029133.2:c.2074G>A, XM_017029133.1:c.2074G>A, XM_047441645.1:c.2722G>A, XM_047441659.1:c.2518G>A, XM_047441653.1:c.2599G>A, XM_047441648.1:c.2602G>A, XM_047441646.1:c.2602G>A, XM_047441642.1:c.2623G>A, XM_047441647.1:c.2602G>A, XM_047441651.1:c.2599G>A, XM_047441655.1:c.2539G>A, XM_047441656.1:c.2521G>A, XM_047441658.1:c.2518G>A, XM_047441643.1:c.2623G>A, XM_047441644.1:c.2620G>A, XM_047441650.1:c.2602G>A, XM_047441649.1:c.2602G>A, XM_047441652.1:c.2599G>A, XM_047441654.1:c.2599G>A, XM_047441660.1:c.2518G>A, XM_047441657.1:c.2521G>A, XM_047441661.1:c.2518G>A, XM_047441638.1:c.2626G>A, XM_047441639.1:c.2599G>A, XM_047441641.1:c.2542G>A, XM_047441662.1:c.1771G>A, XM_047441640.1:c.2626G>A, XM_047441663.1:c.1729G>A, NP_055493.2:p.Ala818Thr, NP_001338572.1:p.Ala845Thr, NP_001338574.1:p.Ala818Thr, NP_001338571.1:p.Ala846Thr, NP_001338570.1:p.Ala846Thr, NP_001229827.1:p.Ala845Thr, NP_001338576.1:p.Ala683Thr, NP_001338573.1:p.Ala819Thr, NP_001229828.1:p.Ala819Thr, NP_001229829.1:p.Ala819Thr, NP_001338575.1:p.Ala817Thr, NP_001338577.1:p.Ala656Thr, NP_001352765.1:p.Ala852Thr, XP_011529038.1:p.Ala854Thr, XP_006724494.1:p.Ala853Thr, XP_011529039.1:p.Ala854Thr, XP_011529034.1:p.Ala876Thr, XP_011529036.1:p.Ala876Thr, XP_011529023.1:p.Ala875Thr, XP_011529022.1:p.Ala875Thr, XP_011529024.1:p.Ala874Thr, XP_011529025.1:p.Ala869Thr, XP_011529026.1:p.Ala868Thr, XP_011529041.1:p.Ala854Thr, XP_011529028.1:p.Ala849Thr, XP_011529029.1:p.Ala848Thr, XP_011529030.1:p.Ala842Thr, XP_011529032.1:p.Ala841Thr, XP_011529031.1:p.Ala841Thr, XP_011529042.1:p.Ala786Thr, XP_016884609.1:p.Ala867Thr, XP_024308074.1:p.Ala868Thr, XP_016884605.1:p.Ala847Thr, XP_011529033.1:p.Ala840Thr, XP_016884622.1:p.Ala692Thr, XP_047297601.1:p.Ala908Thr, XP_047297615.1:p.Ala840Thr, XP_047297609.1:p.Ala867Thr, XP_047297604.1:p.Ala868Thr, XP_047297602.1:p.Ala868Thr, XP_047297598.1:p.Ala875Thr, XP_047297603.1:p.Ala868Thr, XP_047297607.1:p.Ala867Thr, XP_047297611.1:p.Ala847Thr, XP_047297612.1:p.Ala841Thr, XP_047297614.1:p.Ala840Thr, XP_047297599.1:p.Ala875Thr, XP_047297600.1:p.Ala874Thr, XP_047297606.1:p.Ala868Thr, XP_047297605.1:p.Ala868Thr, XP_047297608.1:p.Ala867Thr, XP_047297610.1:p.Ala867Thr, XP_047297616.1:p.Ala840Thr, XP_047297613.1:p.Ala841Thr, XP_047297617.1:p.Ala840Thr, XP_047297594.1:p.Ala876Thr, XP_047297595.1:p.Ala867Thr, XP_047297597.1:p.Ala848Thr, XP_047297618.1:p.Ala591Thr, XP_047297596.1:p.Ala876Thr, XP_047297619.1:p.Ala577Thr

                    10.

                    rs1477485256 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      22:50416151 (GRCh38)
                      22:50854580 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:50416150:T:A
                      Gene:
                      PPP6R2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,initiator_codon_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000022.11:g.50416151T>A, NC_000022.10:g.50854580T>A, NG_054883.1:g.77835T>A, NM_014678.5:c.612T>A, NM_014678.4:c.612T>A, NM_001351643.2:c.612T>A, NM_001351643.1:c.612T>A, NM_001351645.2:c.612T>A, NM_001351645.1:c.612T>A, NM_001351642.2:c.612T>A, NM_001351642.1:c.612T>A, NM_001351641.2:c.612T>A, NM_001351641.1:c.612T>A, NM_001242898.2:c.612T>A, NM_001242898.1:c.612T>A, NM_001351647.2:c.126T>A, NM_001351647.1:c.126T>A, NM_001351644.2:c.612T>A, NM_001351644.1:c.612T>A, NM_001242899.2:c.612T>A, NM_001242899.1:c.612T>A, NM_001242900.2:c.612T>A, NM_001242900.1:c.612T>A, NM_001351646.2:c.612T>A, NM_001351646.1:c.612T>A, NM_001351648.2:c.126T>A, NM_001351648.1:c.126T>A, NM_001365836.1:c.612T>A, XM_011530736.4:c.612T>A, XM_011530736.3:c.612T>A, XM_011530736.2:c.612T>A, XM_011530736.1:c.612T>A, XM_006724431.4:c.612T>A, XM_006724431.3:c.612T>A, XM_006724431.2:c.612T>A, XM_006724431.1:c.612T>A, XM_011530737.3:c.612T>A, XM_011530737.2:c.612T>A, XM_011530737.1:c.612T>A, XM_011530732.3:c.678T>A, XM_011530732.2:c.678T>A, XM_011530732.1:c.678T>A, XM_011530734.3:c.678T>A, XM_011530734.2:c.678T>A, XM_011530734.1:c.678T>A, XM_011530721.3:c.678T>A, XM_011530721.2:c.678T>A, XM_011530721.1:c.678T>A, XM_011530720.3:c.678T>A, XM_011530720.2:c.678T>A, XM_011530720.1:c.678T>A, XM_011530722.3:c.678T>A, XM_011530722.2:c.678T>A, XM_011530722.1:c.678T>A, XM_011530723.3:c.678T>A, XM_011530723.2:c.678T>A, XM_011530723.1:c.678T>A, XM_011530724.3:c.678T>A, XM_011530724.2:c.678T>A, XM_011530724.1:c.678T>A, XM_011530739.3:c.612T>A, XM_011530739.2:c.612T>A, XM_011530739.1:c.612T>A, XM_011530726.3:c.678T>A, XM_011530726.2:c.678T>A, XM_011530726.1:c.678T>A, XM_011530727.3:c.678T>A, XM_011530727.2:c.678T>A, XM_011530727.1:c.678T>A, XM_011530728.3:c.678T>A, XM_011530728.2:c.678T>A, XM_011530728.1:c.678T>A, XM_011530730.3:c.678T>A, XM_011530730.2:c.678T>A, XM_011530730.1:c.678T>A, XM_011530729.3:c.678T>A, XM_011530729.2:c.678T>A, XM_011530729.1:c.678T>A, XM_011530740.3:c.408T>A, XM_011530740.2:c.408T>A, XM_011530740.1:c.408T>A, XM_017029120.2:c.678T>A, XM_017029120.1:c.678T>A, XM_024452306.2:c.678T>A, XM_024452306.1:c.678T>A, XM_017029116.2:c.678T>A, XM_017029116.1:c.678T>A, XM_011530731.2:c.678T>A, XM_011530731.1:c.678T>A, XM_017029133.2:c.126T>A, XM_017029133.1:c.126T>A, XM_047441645.1:c.798T>A, XM_047441659.1:c.678T>A, XM_047441653.1:c.678T>A, XM_047441648.1:c.678T>A, XM_047441646.1:c.678T>A, XM_047441642.1:c.678T>A, XM_047441647.1:c.678T>A, XM_047441651.1:c.678T>A, XM_047441655.1:c.678T>A, XM_047441656.1:c.678T>A, XM_047441658.1:c.678T>A, XM_047441643.1:c.678T>A, XM_047441644.1:c.678T>A, XM_047441650.1:c.678T>A, XM_047441649.1:c.678T>A, XM_047441652.1:c.678T>A, XM_047441654.1:c.678T>A, XM_047441660.1:c.678T>A, XM_047441657.1:c.678T>A, XM_047441661.1:c.678T>A, XM_047441638.1:c.678T>A, XM_047441639.1:c.678T>A, XM_047441641.1:c.678T>A, XM_047441640.1:c.678T>A, XM_047441663.1:c.2T>A, NP_055493.2:p.Asp204Glu, NP_001338572.1:p.Asp204Glu, NP_001338574.1:p.Asp204Glu, NP_001338571.1:p.Asp204Glu, NP_001338570.1:p.Asp204Glu, NP_001229827.1:p.Asp204Glu, NP_001338576.1:p.Asp42Glu, NP_001338573.1:p.Asp204Glu, NP_001229828.1:p.Asp204Glu, NP_001229829.1:p.Asp204Glu, NP_001338575.1:p.Asp204Glu, NP_001338577.1:p.Asp42Glu, NP_001352765.1:p.Asp204Glu, XP_011529038.1:p.Asp204Glu, XP_006724494.1:p.Asp204Glu, XP_011529039.1:p.Asp204Glu, XP_011529034.1:p.Asp226Glu, XP_011529036.1:p.Asp226Glu, XP_011529023.1:p.Asp226Glu, XP_011529022.1:p.Asp226Glu, XP_011529024.1:p.Asp226Glu, XP_011529025.1:p.Asp226Glu, XP_011529026.1:p.Asp226Glu, XP_011529041.1:p.Asp204Glu, XP_011529028.1:p.Asp226Glu, XP_011529029.1:p.Asp226Glu, XP_011529030.1:p.Asp226Glu, XP_011529032.1:p.Asp226Glu, XP_011529031.1:p.Asp226Glu, XP_011529042.1:p.Asp136Glu, XP_016884609.1:p.Asp226Glu, XP_024308074.1:p.Asp226Glu, XP_016884605.1:p.Asp226Glu, XP_011529033.1:p.Asp226Glu, XP_016884622.1:p.Asp42Glu, XP_047297601.1:p.Asp266Glu, XP_047297615.1:p.Asp226Glu, XP_047297609.1:p.Asp226Glu, XP_047297604.1:p.Asp226Glu, XP_047297602.1:p.Asp226Glu, XP_047297598.1:p.Asp226Glu, XP_047297603.1:p.Asp226Glu, XP_047297607.1:p.Asp226Glu, XP_047297611.1:p.Asp226Glu, XP_047297612.1:p.Asp226Glu, XP_047297614.1:p.Asp226Glu, XP_047297599.1:p.Asp226Glu, XP_047297600.1:p.Asp226Glu, XP_047297606.1:p.Asp226Glu, XP_047297605.1:p.Asp226Glu, XP_047297608.1:p.Asp226Glu, XP_047297610.1:p.Asp226Glu, XP_047297616.1:p.Asp226Glu, XP_047297613.1:p.Asp226Glu, XP_047297617.1:p.Asp226Glu, XP_047297594.1:p.Asp226Glu, XP_047297595.1:p.Asp226Glu, XP_047297597.1:p.Asp226Glu, XP_047297596.1:p.Asp226Glu, XP_047297619.1:p.Met1Lys

                      11.

                      rs1476253603 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:50443983 (GRCh38)
                        22:50882412 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:50443982:G:A
                        Gene:
                        PPP6R2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000008/2 (GnomAD_exomes)
                        A=0.000106/2 (TOMMO)
                        HGVS:
                        NC_000022.11:g.50443983G>A, NC_000022.10:g.50882412G>A, NG_054883.1:g.105667G>A, NM_014678.5:c.2616G>A, NM_014678.4:c.2616G>A, NM_001351643.2:c.2697G>A, NM_001351643.1:c.2697G>A, NM_001351645.2:c.2616G>A, NM_001351645.1:c.2616G>A, NM_001351642.2:c.2700G>A, NM_001351642.1:c.2700G>A, NM_001351641.2:c.2700G>A, NM_001351641.1:c.2700G>A, NM_001242898.2:c.2697G>A, NM_001242898.1:c.2697G>A, NM_001351647.2:c.2211G>A, NM_001351647.1:c.2211G>A, NM_001351644.2:c.2619G>A, NM_001351644.1:c.2619G>A, NM_001242899.2:c.2619G>A, NM_001242899.1:c.2619G>A, NM_001242900.2:c.2619G>A, NM_001242900.1:c.2619G>A, NM_001351646.2:c.2613G>A, NM_001351646.1:c.2613G>A, NM_001351648.2:c.2130G>A, NM_001351648.1:c.2130G>A, NM_001365836.1:c.2718G>A, NG_041810.1:g.36089C>T, XM_011530736.4:c.2724G>A, XM_011530736.3:c.2724G>A, XM_011530736.2:c.2724G>A, XM_011530736.1:c.2724G>A, XM_006724431.4:c.2721G>A, XM_006724431.3:c.2721G>A, XM_006724431.2:c.2721G>A, XM_006724431.1:c.2721G>A, XM_011530737.3:c.2724G>A, XM_011530737.2:c.2724G>A, XM_011530737.1:c.2724G>A, XM_011530732.3:c.2790G>A, XM_011530732.2:c.2790G>A, XM_011530732.1:c.2790G>A, XM_011530734.3:c.2790G>A, XM_011530734.2:c.2790G>A, XM_011530734.1:c.2790G>A, XM_011530721.3:c.2787G>A, XM_011530721.2:c.2787G>A, XM_011530721.1:c.2787G>A, XM_011530720.3:c.2787G>A, XM_011530720.2:c.2787G>A, XM_011530720.1:c.2787G>A, XM_011530722.3:c.2784G>A, XM_011530722.2:c.2784G>A, XM_011530722.1:c.2784G>A, XM_011530723.3:c.2769G>A, XM_011530723.2:c.2769G>A, XM_011530723.1:c.2769G>A, XM_011530724.3:c.2766G>A, XM_011530724.2:c.2766G>A, XM_011530724.1:c.2766G>A, XM_011530739.3:c.2724G>A, XM_011530739.2:c.2724G>A, XM_011530739.1:c.2724G>A, XM_011530726.3:c.2709G>A, XM_011530726.2:c.2709G>A, XM_011530726.1:c.2709G>A, XM_011530727.3:c.2706G>A, XM_011530727.2:c.2706G>A, XM_011530727.1:c.2706G>A, XM_011530728.3:c.2688G>A, XM_011530728.2:c.2688G>A, XM_011530728.1:c.2688G>A, XM_011530730.3:c.2685G>A, XM_011530730.2:c.2685G>A, XM_011530730.1:c.2685G>A, XM_011530729.3:c.2685G>A, XM_011530729.2:c.2685G>A, XM_011530729.1:c.2685G>A, XM_011530740.3:c.2520G>A, XM_011530740.2:c.2520G>A, XM_011530740.1:c.2520G>A, XM_017029120.2:c.2763G>A, XM_017029120.1:c.2763G>A, XM_024452306.2:c.2766G>A, XM_024452306.1:c.2766G>A, XM_017029116.2:c.2703G>A, XM_017029116.1:c.2703G>A, XM_011530731.2:c.2682G>A, XM_011530731.1:c.2682G>A, XM_017029133.2:c.2238G>A, XM_017029133.1:c.2238G>A, XM_047441645.1:c.2886G>A, XM_047441659.1:c.2682G>A, XM_047441653.1:c.2763G>A, XM_047441648.1:c.2766G>A, XM_047441646.1:c.2766G>A, XM_047441642.1:c.2787G>A, XM_047441647.1:c.2766G>A, XM_047441651.1:c.2763G>A, XM_047441655.1:c.2703G>A, XM_047441656.1:c.2685G>A, XM_047441658.1:c.2682G>A, XM_047441643.1:c.2787G>A, XM_047441644.1:c.2784G>A, XM_047441650.1:c.2766G>A, XM_047441649.1:c.2766G>A, XM_047441652.1:c.2763G>A, XM_047441654.1:c.2763G>A, XM_047441660.1:c.2682G>A, XM_047441657.1:c.2685G>A, XM_047441661.1:c.2682G>A, XM_047441638.1:c.2790G>A, XM_047441639.1:c.2763G>A, XM_047441641.1:c.2706G>A, XM_047441662.1:c.1935G>A, XM_047441640.1:c.2790G>A, XM_047441663.1:c.1893G>A

                        12.

                        rs1476132644 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          22:50437553 (GRCh38)
                          22:50875982 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:50437552:T:A
                          Gene:
                          PPP6R2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000047/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.50437553T>A, NC_000022.10:g.50875982T>A, NG_054883.1:g.99237T>A, NM_014678.5:c.1650T>A, NM_014678.4:c.1650T>A, NM_001351643.2:c.1731T>A, NM_001351643.1:c.1731T>A, NM_001351645.2:c.1650T>A, NM_001351645.1:c.1650T>A, NM_001351642.2:c.1731T>A, NM_001351642.1:c.1731T>A, NM_001351641.2:c.1734T>A, NM_001351641.1:c.1734T>A, NM_001242898.2:c.1731T>A, NM_001242898.1:c.1731T>A, NM_001351647.2:c.1245T>A, NM_001351647.1:c.1245T>A, NM_001351644.2:c.1650T>A, NM_001351644.1:c.1650T>A, NM_001242899.2:c.1653T>A, NM_001242899.1:c.1653T>A, NM_001242900.2:c.1650T>A, NM_001242900.1:c.1650T>A, NM_001351646.2:c.1647T>A, NM_001351646.1:c.1647T>A, NM_001351648.2:c.1164T>A, NM_001351648.1:c.1164T>A, NM_001365836.1:c.1731T>A, XM_011530736.4:c.1734T>A, XM_011530736.3:c.1734T>A, XM_011530736.2:c.1734T>A, XM_011530736.1:c.1734T>A, XM_006724431.4:c.1731T>A, XM_006724431.3:c.1731T>A, XM_006724431.2:c.1731T>A, XM_006724431.1:c.1731T>A, XM_011530737.3:c.1734T>A, XM_011530737.2:c.1734T>A, XM_011530737.1:c.1734T>A, XM_011530732.3:c.1800T>A, XM_011530732.2:c.1800T>A, XM_011530732.1:c.1800T>A, XM_011530734.3:c.1800T>A, XM_011530734.2:c.1800T>A, XM_011530734.1:c.1800T>A, XM_011530721.3:c.1797T>A, XM_011530721.2:c.1797T>A, XM_011530721.1:c.1797T>A, XM_011530720.3:c.1800T>A, XM_011530720.2:c.1800T>A, XM_011530720.1:c.1800T>A, XM_011530722.3:c.1797T>A, XM_011530722.2:c.1797T>A, XM_011530722.1:c.1797T>A, XM_011530723.3:c.1800T>A, XM_011530723.2:c.1800T>A, XM_011530723.1:c.1800T>A, XM_011530724.3:c.1800T>A, XM_011530724.2:c.1800T>A, XM_011530724.1:c.1800T>A, XM_011530739.3:c.1734T>A, XM_011530739.2:c.1734T>A, XM_011530739.1:c.1734T>A, XM_011530726.3:c.1719T>A, XM_011530726.2:c.1719T>A, XM_011530726.1:c.1719T>A, XM_011530727.3:c.1719T>A, XM_011530727.2:c.1719T>A, XM_011530727.1:c.1719T>A, XM_011530728.3:c.1719T>A, XM_011530728.2:c.1719T>A, XM_011530728.1:c.1719T>A, XM_011530730.3:c.1716T>A, XM_011530730.2:c.1716T>A, XM_011530730.1:c.1716T>A, XM_011530729.3:c.1719T>A, XM_011530729.2:c.1719T>A, XM_011530729.1:c.1719T>A, XM_011530740.3:c.1530T>A, XM_011530740.2:c.1530T>A, XM_011530740.1:c.1530T>A, XM_017029120.2:c.1797T>A, XM_017029120.1:c.1797T>A, XM_024452306.2:c.1797T>A, XM_024452306.1:c.1797T>A, XM_017029116.2:c.1716T>A, XM_017029116.1:c.1716T>A, XM_011530731.2:c.1716T>A, XM_011530731.1:c.1716T>A, XM_017029133.2:c.1248T>A, XM_017029133.1:c.1248T>A, XM_047441645.1:c.1920T>A, XM_047441659.1:c.1716T>A, XM_047441653.1:c.1797T>A, XM_047441648.1:c.1797T>A, XM_047441646.1:c.1797T>A, XM_047441642.1:c.1797T>A, XM_047441647.1:c.1797T>A, XM_047441651.1:c.1797T>A, XM_047441655.1:c.1716T>A, XM_047441656.1:c.1716T>A, XM_047441658.1:c.1716T>A, XM_047441643.1:c.1797T>A, XM_047441644.1:c.1797T>A, XM_047441650.1:c.1800T>A, XM_047441649.1:c.1797T>A, XM_047441652.1:c.1797T>A, XM_047441654.1:c.1797T>A, XM_047441660.1:c.1716T>A, XM_047441657.1:c.1716T>A, XM_047441661.1:c.1716T>A, XM_047441638.1:c.1800T>A, XM_047441639.1:c.1797T>A, XM_047441641.1:c.1716T>A, XM_047441662.1:c.969T>A, XM_047441640.1:c.1800T>A, XM_047441663.1:c.927T>A, NP_055493.2:p.Asp550Glu, NP_001338572.1:p.Asp577Glu, NP_001338574.1:p.Asp550Glu, NP_001338571.1:p.Asp577Glu, NP_001338570.1:p.Asp578Glu, NP_001229827.1:p.Asp577Glu, NP_001338576.1:p.Asp415Glu, NP_001338573.1:p.Asp550Glu, NP_001229828.1:p.Asp551Glu, NP_001229829.1:p.Asp550Glu, NP_001338575.1:p.Asp549Glu, NP_001338577.1:p.Asp388Glu, NP_001352765.1:p.Asp577Glu, XP_011529038.1:p.Asp578Glu, XP_006724494.1:p.Asp577Glu, XP_011529039.1:p.Asp578Glu, XP_011529034.1:p.Asp600Glu, XP_011529036.1:p.Asp600Glu, XP_011529023.1:p.Asp599Glu, XP_011529022.1:p.Asp600Glu, XP_011529024.1:p.Asp599Glu, XP_011529025.1:p.Asp600Glu, XP_011529026.1:p.Asp600Glu, XP_011529041.1:p.Asp578Glu, XP_011529028.1:p.Asp573Glu, XP_011529029.1:p.Asp573Glu, XP_011529030.1:p.Asp573Glu, XP_011529032.1:p.Asp572Glu, XP_011529031.1:p.Asp573Glu, XP_011529042.1:p.Asp510Glu, XP_016884609.1:p.Asp599Glu, XP_024308074.1:p.Asp599Glu, XP_016884605.1:p.Asp572Glu, XP_011529033.1:p.Asp572Glu, XP_016884622.1:p.Asp416Glu, XP_047297601.1:p.Asp640Glu, XP_047297615.1:p.Asp572Glu, XP_047297609.1:p.Asp599Glu, XP_047297604.1:p.Asp599Glu, XP_047297602.1:p.Asp599Glu, XP_047297598.1:p.Asp599Glu, XP_047297603.1:p.Asp599Glu, XP_047297607.1:p.Asp599Glu, XP_047297611.1:p.Asp572Glu, XP_047297612.1:p.Asp572Glu, XP_047297614.1:p.Asp572Glu, XP_047297599.1:p.Asp599Glu, XP_047297600.1:p.Asp599Glu, XP_047297606.1:p.Asp600Glu, XP_047297605.1:p.Asp599Glu, XP_047297608.1:p.Asp599Glu, XP_047297610.1:p.Asp599Glu, XP_047297616.1:p.Asp572Glu, XP_047297613.1:p.Asp572Glu, XP_047297617.1:p.Asp572Glu, XP_047297594.1:p.Asp600Glu, XP_047297595.1:p.Asp599Glu, XP_047297597.1:p.Asp572Glu, XP_047297618.1:p.Asp323Glu, XP_047297596.1:p.Asp600Glu, XP_047297619.1:p.Asp309Glu

                          13.

                          rs1475145775 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:50444238 (GRCh38)
                            22:50882667 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:50444237:C:T
                            Gene:
                            PPP6R2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                            HGVS:
                            NC_000022.11:g.50444238C>T, NC_000022.10:g.50882667C>T, NG_054883.1:g.105922C>T, NM_014678.5:c.2790C>T, NM_014678.4:c.2790C>T, NM_001351643.2:c.2871C>T, NM_001351643.1:c.2871C>T, NM_001351645.2:c.2790C>T, NM_001351645.1:c.2790C>T, NM_001351642.2:c.2874C>T, NM_001351642.1:c.2874C>T, NM_001351641.2:c.2874C>T, NM_001351641.1:c.2874C>T, NM_001242898.2:c.2871C>T, NM_001242898.1:c.2871C>T, NM_001351647.2:c.2385C>T, NM_001351647.1:c.2385C>T, NM_001351644.2:c.2793C>T, NM_001351644.1:c.2793C>T, NM_001242899.2:c.2793C>T, NM_001242899.1:c.2793C>T, NM_001242900.2:c.*5C>T, NM_001242900.1:c.*5C>T, NM_001351646.2:c.2787C>T, NM_001351646.1:c.2787C>T, NM_001351648.2:c.2304C>T, NM_001351648.1:c.2304C>T, NM_001365836.1:c.2892C>T, NG_041810.1:g.35834G>A, XM_011530736.4:c.2898C>T, XM_011530736.3:c.2898C>T, XM_011530736.2:c.2898C>T, XM_011530736.1:c.2898C>T, XM_006724431.4:c.2895C>T, XM_006724431.3:c.2895C>T, XM_006724431.2:c.2895C>T, XM_006724431.1:c.2895C>T, XM_011530737.3:c.2898C>T, XM_011530737.2:c.2898C>T, XM_011530737.1:c.2898C>T, XM_011530732.3:c.2964C>T, XM_011530732.2:c.2964C>T, XM_011530732.1:c.2964C>T, XM_011530734.3:c.2964C>T, XM_011530734.2:c.2964C>T, XM_011530734.1:c.2964C>T, XM_011530721.3:c.2961C>T, XM_011530721.2:c.2961C>T, XM_011530721.1:c.2961C>T, XM_011530720.3:c.2961C>T, XM_011530720.2:c.2961C>T, XM_011530720.1:c.2961C>T, XM_011530722.3:c.2958C>T, XM_011530722.2:c.2958C>T, XM_011530722.1:c.2958C>T, XM_011530723.3:c.2943C>T, XM_011530723.2:c.2943C>T, XM_011530723.1:c.2943C>T, XM_011530724.3:c.2940C>T, XM_011530724.2:c.2940C>T, XM_011530724.1:c.2940C>T, XM_011530739.3:c.2898C>T, XM_011530739.2:c.2898C>T, XM_011530739.1:c.2898C>T, XM_011530726.3:c.2883C>T, XM_011530726.2:c.2883C>T, XM_011530726.1:c.2883C>T, XM_011530727.3:c.2880C>T, XM_011530727.2:c.2880C>T, XM_011530727.1:c.2880C>T, XM_011530728.3:c.2862C>T, XM_011530728.2:c.2862C>T, XM_011530728.1:c.2862C>T, XM_011530730.3:c.2859C>T, XM_011530730.2:c.2859C>T, XM_011530730.1:c.2859C>T, XM_011530729.3:c.2859C>T, XM_011530729.2:c.2859C>T, XM_011530729.1:c.2859C>T, XM_011530740.3:c.2694C>T, XM_011530740.2:c.2694C>T, XM_011530740.1:c.2694C>T, XM_017029120.2:c.2937C>T, XM_017029120.1:c.2937C>T, XM_024452306.2:c.2940C>T, XM_024452306.1:c.2940C>T, XM_017029116.2:c.2877C>T, XM_017029116.1:c.2877C>T, XM_011530731.2:c.2856C>T, XM_011530731.1:c.2856C>T, XM_017029133.2:c.2412C>T, XM_017029133.1:c.2412C>T, XM_047441645.1:c.3060C>T, XM_047441659.1:c.2856C>T, XM_047441653.1:c.2937C>T, XM_047441648.1:c.2940C>T, XM_047441646.1:c.2940C>T, XM_047441642.1:c.2961C>T, XM_047441647.1:c.2940C>T, XM_047441651.1:c.2937C>T, XM_047441655.1:c.2877C>T, XM_047441656.1:c.2859C>T, XM_047441658.1:c.2856C>T, XM_047441643.1:c.2961C>T, XM_047441644.1:c.2958C>T, XM_047441650.1:c.2940C>T, XM_047441649.1:c.2940C>T, XM_047441652.1:c.2937C>T, XM_047441654.1:c.2937C>T, XM_047441660.1:c.2856C>T, XM_047441657.1:c.2859C>T, XM_047441661.1:c.2856C>T, XM_047441638.1:c.2964C>T, XM_047441639.1:c.2937C>T, XM_047441641.1:c.2880C>T, XM_047441662.1:c.2109C>T, XM_047441663.1:c.2067C>T

                            14.

                            rs1472820886 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:50437861 (GRCh38)
                              22:50876290 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:50437860:C:T
                              Gene:
                              PPP6R2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000006/1 (GnomAD_exomes)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              T=0.001667/1 (NorthernSweden)
                              HGVS:
                              NC_000022.11:g.50437861C>T, NC_000022.10:g.50876290C>T, NG_054883.1:g.99545C>T, NM_014678.5:c.1719C>T, NM_014678.4:c.1719C>T, NM_001351643.2:c.1800C>T, NM_001351643.1:c.1800C>T, NM_001351645.2:c.1719C>T, NM_001351645.1:c.1719C>T, NM_001351642.2:c.1800C>T, NM_001351642.1:c.1800C>T, NM_001351641.2:c.1803C>T, NM_001351641.1:c.1803C>T, NM_001242898.2:c.1800C>T, NM_001242898.1:c.1800C>T, NM_001351647.2:c.1314C>T, NM_001351647.1:c.1314C>T, NM_001351644.2:c.1719C>T, NM_001351644.1:c.1719C>T, NM_001242899.2:c.1722C>T, NM_001242899.1:c.1722C>T, NM_001242900.2:c.1719C>T, NM_001242900.1:c.1719C>T, NM_001351646.2:c.1716C>T, NM_001351646.1:c.1716C>T, NM_001351648.2:c.1233C>T, NM_001351648.1:c.1233C>T, NM_001365836.1:c.1800C>T, XM_011530736.4:c.1803C>T, XM_011530736.3:c.1803C>T, XM_011530736.2:c.1803C>T, XM_011530736.1:c.1803C>T, XM_006724431.4:c.1800C>T, XM_006724431.3:c.1800C>T, XM_006724431.2:c.1800C>T, XM_006724431.1:c.1800C>T, XM_011530737.3:c.1803C>T, XM_011530737.2:c.1803C>T, XM_011530737.1:c.1803C>T, XM_011530732.3:c.1869C>T, XM_011530732.2:c.1869C>T, XM_011530732.1:c.1869C>T, XM_011530734.3:c.1869C>T, XM_011530734.2:c.1869C>T, XM_011530734.1:c.1869C>T, XM_011530721.3:c.1866C>T, XM_011530721.2:c.1866C>T, XM_011530721.1:c.1866C>T, XM_011530720.3:c.1869C>T, XM_011530720.2:c.1869C>T, XM_011530720.1:c.1869C>T, XM_011530722.3:c.1866C>T, XM_011530722.2:c.1866C>T, XM_011530722.1:c.1866C>T, XM_011530723.3:c.1869C>T, XM_011530723.2:c.1869C>T, XM_011530723.1:c.1869C>T, XM_011530724.3:c.1869C>T, XM_011530724.2:c.1869C>T, XM_011530724.1:c.1869C>T, XM_011530739.3:c.1803C>T, XM_011530739.2:c.1803C>T, XM_011530739.1:c.1803C>T, XM_011530726.3:c.1788C>T, XM_011530726.2:c.1788C>T, XM_011530726.1:c.1788C>T, XM_011530727.3:c.1788C>T, XM_011530727.2:c.1788C>T, XM_011530727.1:c.1788C>T, XM_011530728.3:c.1788C>T, XM_011530728.2:c.1788C>T, XM_011530728.1:c.1788C>T, XM_011530730.3:c.1785C>T, XM_011530730.2:c.1785C>T, XM_011530730.1:c.1785C>T, XM_011530729.3:c.1788C>T, XM_011530729.2:c.1788C>T, XM_011530729.1:c.1788C>T, XM_011530740.3:c.1599C>T, XM_011530740.2:c.1599C>T, XM_011530740.1:c.1599C>T, XM_017029120.2:c.1866C>T, XM_017029120.1:c.1866C>T, XM_024452306.2:c.1866C>T, XM_024452306.1:c.1866C>T, XM_017029116.2:c.1785C>T, XM_017029116.1:c.1785C>T, XM_011530731.2:c.1785C>T, XM_011530731.1:c.1785C>T, XM_017029133.2:c.1317C>T, XM_017029133.1:c.1317C>T, XM_047441645.1:c.1989C>T, XM_047441659.1:c.1785C>T, XM_047441653.1:c.1866C>T, XM_047441648.1:c.1866C>T, XM_047441646.1:c.1866C>T, XM_047441642.1:c.1866C>T, XM_047441647.1:c.1866C>T, XM_047441651.1:c.1866C>T, XM_047441655.1:c.1785C>T, XM_047441656.1:c.1785C>T, XM_047441658.1:c.1785C>T, XM_047441643.1:c.1866C>T, XM_047441644.1:c.1866C>T, XM_047441650.1:c.1869C>T, XM_047441649.1:c.1866C>T, XM_047441652.1:c.1866C>T, XM_047441654.1:c.1866C>T, XM_047441660.1:c.1785C>T, XM_047441657.1:c.1785C>T, XM_047441661.1:c.1785C>T, XM_047441638.1:c.1869C>T, XM_047441639.1:c.1866C>T, XM_047441641.1:c.1785C>T, XM_047441662.1:c.1038C>T, XM_047441640.1:c.1869C>T, XM_047441663.1:c.996C>T

                              15.

                              rs1472336664 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                22:50444093 (GRCh38)
                                22:50882522 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:50444092:C:A
                                Gene:
                                PPP6R2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000022.11:g.50444093C>A, NC_000022.10:g.50882522C>A, NG_054883.1:g.105777C>A, NM_014678.5:c.2726C>A, NM_014678.4:c.2726C>A, NM_001351643.2:c.2807C>A, NM_001351643.1:c.2807C>A, NM_001351645.2:c.2726C>A, NM_001351645.1:c.2726C>A, NM_001351642.2:c.2810C>A, NM_001351642.1:c.2810C>A, NM_001351641.2:c.2810C>A, NM_001351641.1:c.2810C>A, NM_001242898.2:c.2807C>A, NM_001242898.1:c.2807C>A, NM_001351647.2:c.2321C>A, NM_001351647.1:c.2321C>A, NM_001351644.2:c.2729C>A, NM_001351644.1:c.2729C>A, NM_001242899.2:c.2729C>A, NM_001242899.1:c.2729C>A, NM_001242900.2:c.2729C>A, NM_001242900.1:c.2729C>A, NM_001351646.2:c.2723C>A, NM_001351646.1:c.2723C>A, NM_001351648.2:c.2240C>A, NM_001351648.1:c.2240C>A, NM_001365836.1:c.2828C>A, NG_041810.1:g.35979G>T, XM_011530736.4:c.2834C>A, XM_011530736.3:c.2834C>A, XM_011530736.2:c.2834C>A, XM_011530736.1:c.2834C>A, XM_006724431.4:c.2831C>A, XM_006724431.3:c.2831C>A, XM_006724431.2:c.2831C>A, XM_006724431.1:c.2831C>A, XM_011530737.3:c.2834C>A, XM_011530737.2:c.2834C>A, XM_011530737.1:c.2834C>A, XM_011530732.3:c.2900C>A, XM_011530732.2:c.2900C>A, XM_011530732.1:c.2900C>A, XM_011530734.3:c.2900C>A, XM_011530734.2:c.2900C>A, XM_011530734.1:c.2900C>A, XM_011530721.3:c.2897C>A, XM_011530721.2:c.2897C>A, XM_011530721.1:c.2897C>A, XM_011530720.3:c.2897C>A, XM_011530720.2:c.2897C>A, XM_011530720.1:c.2897C>A, XM_011530722.3:c.2894C>A, XM_011530722.2:c.2894C>A, XM_011530722.1:c.2894C>A, XM_011530723.3:c.2879C>A, XM_011530723.2:c.2879C>A, XM_011530723.1:c.2879C>A, XM_011530724.3:c.2876C>A, XM_011530724.2:c.2876C>A, XM_011530724.1:c.2876C>A, XM_011530739.3:c.2834C>A, XM_011530739.2:c.2834C>A, XM_011530739.1:c.2834C>A, XM_011530726.3:c.2819C>A, XM_011530726.2:c.2819C>A, XM_011530726.1:c.2819C>A, XM_011530727.3:c.2816C>A, XM_011530727.2:c.2816C>A, XM_011530727.1:c.2816C>A, XM_011530728.3:c.2798C>A, XM_011530728.2:c.2798C>A, XM_011530728.1:c.2798C>A, XM_011530730.3:c.2795C>A, XM_011530730.2:c.2795C>A, XM_011530730.1:c.2795C>A, XM_011530729.3:c.2795C>A, XM_011530729.2:c.2795C>A, XM_011530729.1:c.2795C>A, XM_011530740.3:c.2630C>A, XM_011530740.2:c.2630C>A, XM_011530740.1:c.2630C>A, XM_017029120.2:c.2873C>A, XM_017029120.1:c.2873C>A, XM_024452306.2:c.2876C>A, XM_024452306.1:c.2876C>A, XM_017029116.2:c.2813C>A, XM_017029116.1:c.2813C>A, XM_011530731.2:c.2792C>A, XM_011530731.1:c.2792C>A, XM_017029133.2:c.2348C>A, XM_017029133.1:c.2348C>A, XM_047441645.1:c.2996C>A, XM_047441659.1:c.2792C>A, XM_047441653.1:c.2873C>A, XM_047441648.1:c.2876C>A, XM_047441646.1:c.2876C>A, XM_047441642.1:c.2897C>A, XM_047441647.1:c.2876C>A, XM_047441651.1:c.2873C>A, XM_047441655.1:c.2813C>A, XM_047441656.1:c.2795C>A, XM_047441658.1:c.2792C>A, XM_047441643.1:c.2897C>A, XM_047441644.1:c.2894C>A, XM_047441650.1:c.2876C>A, XM_047441649.1:c.2876C>A, XM_047441652.1:c.2873C>A, XM_047441654.1:c.2873C>A, XM_047441660.1:c.2792C>A, XM_047441657.1:c.2795C>A, XM_047441661.1:c.2792C>A, XM_047441638.1:c.2900C>A, XM_047441639.1:c.2873C>A, XM_047441641.1:c.2816C>A, XM_047441662.1:c.2045C>A, XM_047441640.1:c.2900C>A, XM_047441663.1:c.2003C>A, NP_055493.2:p.Thr909Asn, NP_001338572.1:p.Thr936Asn, NP_001338574.1:p.Thr909Asn, NP_001338571.1:p.Thr937Asn, NP_001338570.1:p.Thr937Asn, NP_001229827.1:p.Thr936Asn, NP_001338576.1:p.Thr774Asn, NP_001338573.1:p.Thr910Asn, NP_001229828.1:p.Thr910Asn, NP_001229829.1:p.Thr910Asn, NP_001338575.1:p.Thr908Asn, NP_001338577.1:p.Thr747Asn, NP_001352765.1:p.Thr943Asn, XP_011529038.1:p.Thr945Asn, XP_006724494.1:p.Thr944Asn, XP_011529039.1:p.Thr945Asn, XP_011529034.1:p.Thr967Asn, XP_011529036.1:p.Thr967Asn, XP_011529023.1:p.Thr966Asn, XP_011529022.1:p.Thr966Asn, XP_011529024.1:p.Thr965Asn, XP_011529025.1:p.Thr960Asn, XP_011529026.1:p.Thr959Asn, XP_011529041.1:p.Thr945Asn, XP_011529028.1:p.Thr940Asn, XP_011529029.1:p.Thr939Asn, XP_011529030.1:p.Thr933Asn, XP_011529032.1:p.Thr932Asn, XP_011529031.1:p.Thr932Asn, XP_011529042.1:p.Thr877Asn, XP_016884609.1:p.Thr958Asn, XP_024308074.1:p.Thr959Asn, XP_016884605.1:p.Thr938Asn, XP_011529033.1:p.Thr931Asn, XP_016884622.1:p.Thr783Asn, XP_047297601.1:p.Thr999Asn, XP_047297615.1:p.Thr931Asn, XP_047297609.1:p.Thr958Asn, XP_047297604.1:p.Thr959Asn, XP_047297602.1:p.Thr959Asn, XP_047297598.1:p.Thr966Asn, XP_047297603.1:p.Thr959Asn, XP_047297607.1:p.Thr958Asn, XP_047297611.1:p.Thr938Asn, XP_047297612.1:p.Thr932Asn, XP_047297614.1:p.Thr931Asn, XP_047297599.1:p.Thr966Asn, XP_047297600.1:p.Thr965Asn, XP_047297606.1:p.Thr959Asn, XP_047297605.1:p.Thr959Asn, XP_047297608.1:p.Thr958Asn, XP_047297610.1:p.Thr958Asn, XP_047297616.1:p.Thr931Asn, XP_047297613.1:p.Thr932Asn, XP_047297617.1:p.Thr931Asn, XP_047297594.1:p.Thr967Asn, XP_047297595.1:p.Thr958Asn, XP_047297597.1:p.Thr939Asn, XP_047297618.1:p.Thr682Asn, XP_047297596.1:p.Thr967Asn, XP_047297619.1:p.Thr668Asn

                                16.

                                rs1472164999 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:50438750 (GRCh38)
                                  22:50877179 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:50438749:G:A
                                  Gene:
                                  PPP6R2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000022.11:g.50438750G>A, NC_000022.10:g.50877179G>A, NG_054883.1:g.100434G>A, NM_014678.5:c.2035G>A, NM_014678.4:c.2035G>A, NM_001351643.2:c.2116G>A, NM_001351643.1:c.2116G>A, NM_001351645.2:c.2035G>A, NM_001351645.1:c.2035G>A, NM_001351642.2:c.2116G>A, NM_001351642.1:c.2116G>A, NM_001351641.2:c.2119G>A, NM_001351641.1:c.2119G>A, NM_001242898.2:c.2116G>A, NM_001242898.1:c.2116G>A, NM_001351647.2:c.1630G>A, NM_001351647.1:c.1630G>A, NM_001351644.2:c.2035G>A, NM_001351644.1:c.2035G>A, NM_001242899.2:c.2038G>A, NM_001242899.1:c.2038G>A, NM_001242900.2:c.2035G>A, NM_001242900.1:c.2035G>A, NM_001351646.2:c.2032G>A, NM_001351646.1:c.2032G>A, NM_001351648.2:c.1549G>A, NM_001351648.1:c.1549G>A, NM_001365836.1:c.2116G>A, XM_011530736.4:c.2119G>A, XM_011530736.3:c.2119G>A, XM_011530736.2:c.2119G>A, XM_011530736.1:c.2119G>A, XM_006724431.4:c.2116G>A, XM_006724431.3:c.2116G>A, XM_006724431.2:c.2116G>A, XM_006724431.1:c.2116G>A, XM_011530737.3:c.2119G>A, XM_011530737.2:c.2119G>A, XM_011530737.1:c.2119G>A, XM_011530732.3:c.2185G>A, XM_011530732.2:c.2185G>A, XM_011530732.1:c.2185G>A, XM_011530734.3:c.2185G>A, XM_011530734.2:c.2185G>A, XM_011530734.1:c.2185G>A, XM_011530721.3:c.2182G>A, XM_011530721.2:c.2182G>A, XM_011530721.1:c.2182G>A, XM_011530720.3:c.2185G>A, XM_011530720.2:c.2185G>A, XM_011530720.1:c.2185G>A, XM_011530722.3:c.2182G>A, XM_011530722.2:c.2182G>A, XM_011530722.1:c.2182G>A, XM_011530723.3:c.2185G>A, XM_011530723.2:c.2185G>A, XM_011530723.1:c.2185G>A, XM_011530724.3:c.2185G>A, XM_011530724.2:c.2185G>A, XM_011530724.1:c.2185G>A, XM_011530739.3:c.2119G>A, XM_011530739.2:c.2119G>A, XM_011530739.1:c.2119G>A, XM_011530726.3:c.2104G>A, XM_011530726.2:c.2104G>A, XM_011530726.1:c.2104G>A, XM_011530727.3:c.2104G>A, XM_011530727.2:c.2104G>A, XM_011530727.1:c.2104G>A, XM_011530728.3:c.2104G>A, XM_011530728.2:c.2104G>A, XM_011530728.1:c.2104G>A, XM_011530730.3:c.2101G>A, XM_011530730.2:c.2101G>A, XM_011530730.1:c.2101G>A, XM_011530729.3:c.2104G>A, XM_011530729.2:c.2104G>A, XM_011530729.1:c.2104G>A, XM_011530740.3:c.1915G>A, XM_011530740.2:c.1915G>A, XM_011530740.1:c.1915G>A, XM_017029120.2:c.2182G>A, XM_017029120.1:c.2182G>A, XM_024452306.2:c.2182G>A, XM_024452306.1:c.2182G>A, XM_017029116.2:c.2101G>A, XM_017029116.1:c.2101G>A, XM_011530731.2:c.2101G>A, XM_011530731.1:c.2101G>A, XM_017029133.2:c.1633G>A, XM_017029133.1:c.1633G>A, XM_047441645.1:c.2305G>A, XM_047441659.1:c.2101G>A, XM_047441653.1:c.2182G>A, XM_047441648.1:c.2182G>A, XM_047441646.1:c.2182G>A, XM_047441642.1:c.2182G>A, XM_047441647.1:c.2182G>A, XM_047441651.1:c.2182G>A, XM_047441655.1:c.2101G>A, XM_047441656.1:c.2101G>A, XM_047441658.1:c.2101G>A, XM_047441643.1:c.2182G>A, XM_047441644.1:c.2182G>A, XM_047441650.1:c.2185G>A, XM_047441649.1:c.2182G>A, XM_047441652.1:c.2182G>A, XM_047441654.1:c.2182G>A, XM_047441660.1:c.2101G>A, XM_047441657.1:c.2101G>A, XM_047441661.1:c.2101G>A, XM_047441638.1:c.2185G>A, XM_047441639.1:c.2182G>A, XM_047441641.1:c.2101G>A, XM_047441662.1:c.1354G>A, XM_047441640.1:c.2185G>A, XM_047441663.1:c.1312G>A, NP_055493.2:p.Gly679Ser, NP_001338572.1:p.Gly706Ser, NP_001338574.1:p.Gly679Ser, NP_001338571.1:p.Gly706Ser, NP_001338570.1:p.Gly707Ser, NP_001229827.1:p.Gly706Ser, NP_001338576.1:p.Gly544Ser, NP_001338573.1:p.Gly679Ser, NP_001229828.1:p.Gly680Ser, NP_001229829.1:p.Gly679Ser, NP_001338575.1:p.Gly678Ser, NP_001338577.1:p.Gly517Ser, NP_001352765.1:p.Gly706Ser, XP_011529038.1:p.Gly707Ser, XP_006724494.1:p.Gly706Ser, XP_011529039.1:p.Gly707Ser, XP_011529034.1:p.Gly729Ser, XP_011529036.1:p.Gly729Ser, XP_011529023.1:p.Gly728Ser, XP_011529022.1:p.Gly729Ser, XP_011529024.1:p.Gly728Ser, XP_011529025.1:p.Gly729Ser, XP_011529026.1:p.Gly729Ser, XP_011529041.1:p.Gly707Ser, XP_011529028.1:p.Gly702Ser, XP_011529029.1:p.Gly702Ser, XP_011529030.1:p.Gly702Ser, XP_011529032.1:p.Gly701Ser, XP_011529031.1:p.Gly702Ser, XP_011529042.1:p.Gly639Ser, XP_016884609.1:p.Gly728Ser, XP_024308074.1:p.Gly728Ser, XP_016884605.1:p.Gly701Ser, XP_011529033.1:p.Gly701Ser, XP_016884622.1:p.Gly545Ser, XP_047297601.1:p.Gly769Ser, XP_047297615.1:p.Gly701Ser, XP_047297609.1:p.Gly728Ser, XP_047297604.1:p.Gly728Ser, XP_047297602.1:p.Gly728Ser, XP_047297598.1:p.Gly728Ser, XP_047297603.1:p.Gly728Ser, XP_047297607.1:p.Gly728Ser, XP_047297611.1:p.Gly701Ser, XP_047297612.1:p.Gly701Ser, XP_047297614.1:p.Gly701Ser, XP_047297599.1:p.Gly728Ser, XP_047297600.1:p.Gly728Ser, XP_047297606.1:p.Gly729Ser, XP_047297605.1:p.Gly728Ser, XP_047297608.1:p.Gly728Ser, XP_047297610.1:p.Gly728Ser, XP_047297616.1:p.Gly701Ser, XP_047297613.1:p.Gly701Ser, XP_047297617.1:p.Gly701Ser, XP_047297594.1:p.Gly729Ser, XP_047297595.1:p.Gly728Ser, XP_047297597.1:p.Gly701Ser, XP_047297618.1:p.Gly452Ser, XP_047297596.1:p.Gly729Ser, XP_047297619.1:p.Gly438Ser

                                  17.

                                  rs1470863573 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:50416137 (GRCh38)
                                    22:50854566 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:50416136:C:T
                                    Gene:
                                    PPP6R2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000022.11:g.50416137C>T, NC_000022.10:g.50854566C>T, NG_054883.1:g.77821C>T, NM_014678.5:c.598C>T, NM_014678.4:c.598C>T, NM_001351643.2:c.598C>T, NM_001351643.1:c.598C>T, NM_001351645.2:c.598C>T, NM_001351645.1:c.598C>T, NM_001351642.2:c.598C>T, NM_001351642.1:c.598C>T, NM_001351641.2:c.598C>T, NM_001351641.1:c.598C>T, NM_001242898.2:c.598C>T, NM_001242898.1:c.598C>T, NM_001351647.2:c.112C>T, NM_001351647.1:c.112C>T, NM_001351644.2:c.598C>T, NM_001351644.1:c.598C>T, NM_001242899.2:c.598C>T, NM_001242899.1:c.598C>T, NM_001242900.2:c.598C>T, NM_001242900.1:c.598C>T, NM_001351646.2:c.598C>T, NM_001351646.1:c.598C>T, NM_001351648.2:c.112C>T, NM_001351648.1:c.112C>T, NM_001365836.1:c.598C>T, XM_011530736.4:c.598C>T, XM_011530736.3:c.598C>T, XM_011530736.2:c.598C>T, XM_011530736.1:c.598C>T, XM_006724431.4:c.598C>T, XM_006724431.3:c.598C>T, XM_006724431.2:c.598C>T, XM_006724431.1:c.598C>T, XM_011530737.3:c.598C>T, XM_011530737.2:c.598C>T, XM_011530737.1:c.598C>T, XM_011530732.3:c.664C>T, XM_011530732.2:c.664C>T, XM_011530732.1:c.664C>T, XM_011530734.3:c.664C>T, XM_011530734.2:c.664C>T, XM_011530734.1:c.664C>T, XM_011530721.3:c.664C>T, XM_011530721.2:c.664C>T, XM_011530721.1:c.664C>T, XM_011530720.3:c.664C>T, XM_011530720.2:c.664C>T, XM_011530720.1:c.664C>T, XM_011530722.3:c.664C>T, XM_011530722.2:c.664C>T, XM_011530722.1:c.664C>T, XM_011530723.3:c.664C>T, XM_011530723.2:c.664C>T, XM_011530723.1:c.664C>T, XM_011530724.3:c.664C>T, XM_011530724.2:c.664C>T, XM_011530724.1:c.664C>T, XM_011530739.3:c.598C>T, XM_011530739.2:c.598C>T, XM_011530739.1:c.598C>T, XM_011530726.3:c.664C>T, XM_011530726.2:c.664C>T, XM_011530726.1:c.664C>T, XM_011530727.3:c.664C>T, XM_011530727.2:c.664C>T, XM_011530727.1:c.664C>T, XM_011530728.3:c.664C>T, XM_011530728.2:c.664C>T, XM_011530728.1:c.664C>T, XM_011530730.3:c.664C>T, XM_011530730.2:c.664C>T, XM_011530730.1:c.664C>T, XM_011530729.3:c.664C>T, XM_011530729.2:c.664C>T, XM_011530729.1:c.664C>T, XM_011530740.3:c.394C>T, XM_011530740.2:c.394C>T, XM_011530740.1:c.394C>T, XM_017029120.2:c.664C>T, XM_017029120.1:c.664C>T, XM_024452306.2:c.664C>T, XM_024452306.1:c.664C>T, XM_017029116.2:c.664C>T, XM_017029116.1:c.664C>T, XM_011530731.2:c.664C>T, XM_011530731.1:c.664C>T, XM_017029133.2:c.112C>T, XM_017029133.1:c.112C>T, XM_047441645.1:c.784C>T, XM_047441659.1:c.664C>T, XM_047441653.1:c.664C>T, XM_047441648.1:c.664C>T, XM_047441646.1:c.664C>T, XM_047441642.1:c.664C>T, XM_047441647.1:c.664C>T, XM_047441651.1:c.664C>T, XM_047441655.1:c.664C>T, XM_047441656.1:c.664C>T, XM_047441658.1:c.664C>T, XM_047441643.1:c.664C>T, XM_047441644.1:c.664C>T, XM_047441650.1:c.664C>T, XM_047441649.1:c.664C>T, XM_047441652.1:c.664C>T, XM_047441654.1:c.664C>T, XM_047441660.1:c.664C>T, XM_047441657.1:c.664C>T, XM_047441661.1:c.664C>T, XM_047441638.1:c.664C>T, XM_047441639.1:c.664C>T, XM_047441641.1:c.664C>T, XM_047441640.1:c.664C>T, XM_047441663.1:c.-13C>T, NP_055493.2:p.His200Tyr, NP_001338572.1:p.His200Tyr, NP_001338574.1:p.His200Tyr, NP_001338571.1:p.His200Tyr, NP_001338570.1:p.His200Tyr, NP_001229827.1:p.His200Tyr, NP_001338576.1:p.His38Tyr, NP_001338573.1:p.His200Tyr, NP_001229828.1:p.His200Tyr, NP_001229829.1:p.His200Tyr, NP_001338575.1:p.His200Tyr, NP_001338577.1:p.His38Tyr, NP_001352765.1:p.His200Tyr, XP_011529038.1:p.His200Tyr, XP_006724494.1:p.His200Tyr, XP_011529039.1:p.His200Tyr, XP_011529034.1:p.His222Tyr, XP_011529036.1:p.His222Tyr, XP_011529023.1:p.His222Tyr, XP_011529022.1:p.His222Tyr, XP_011529024.1:p.His222Tyr, XP_011529025.1:p.His222Tyr, XP_011529026.1:p.His222Tyr, XP_011529041.1:p.His200Tyr, XP_011529028.1:p.His222Tyr, XP_011529029.1:p.His222Tyr, XP_011529030.1:p.His222Tyr, XP_011529032.1:p.His222Tyr, XP_011529031.1:p.His222Tyr, XP_011529042.1:p.His132Tyr, XP_016884609.1:p.His222Tyr, XP_024308074.1:p.His222Tyr, XP_016884605.1:p.His222Tyr, XP_011529033.1:p.His222Tyr, XP_016884622.1:p.His38Tyr, XP_047297601.1:p.His262Tyr, XP_047297615.1:p.His222Tyr, XP_047297609.1:p.His222Tyr, XP_047297604.1:p.His222Tyr, XP_047297602.1:p.His222Tyr, XP_047297598.1:p.His222Tyr, XP_047297603.1:p.His222Tyr, XP_047297607.1:p.His222Tyr, XP_047297611.1:p.His222Tyr, XP_047297612.1:p.His222Tyr, XP_047297614.1:p.His222Tyr, XP_047297599.1:p.His222Tyr, XP_047297600.1:p.His222Tyr, XP_047297606.1:p.His222Tyr, XP_047297605.1:p.His222Tyr, XP_047297608.1:p.His222Tyr, XP_047297610.1:p.His222Tyr, XP_047297616.1:p.His222Tyr, XP_047297613.1:p.His222Tyr, XP_047297617.1:p.His222Tyr, XP_047297594.1:p.His222Tyr, XP_047297595.1:p.His222Tyr, XP_047297597.1:p.His222Tyr, XP_047297596.1:p.His222Tyr

                                    18.

                                    rs1470845710 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      22:50440009 (GRCh38)
                                      22:50878438 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:50440008:C:A
                                      Gene:
                                      PPP6R2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.50440009C>A, NC_000022.10:g.50878438C>A, NG_054883.1:g.101693C>A, NM_014678.5:c.2253C>A, NM_014678.4:c.2253C>A, NM_001351643.2:c.2334C>A, NM_001351643.1:c.2334C>A, NM_001351645.2:c.2253C>A, NM_001351645.1:c.2253C>A, NM_001351642.2:c.2337C>A, NM_001351642.1:c.2337C>A, NM_001351641.2:c.2337C>A, NM_001351641.1:c.2337C>A, NM_001242898.2:c.2334C>A, NM_001242898.1:c.2334C>A, NM_001351647.2:c.1848C>A, NM_001351647.1:c.1848C>A, NM_001351644.2:c.2256C>A, NM_001351644.1:c.2256C>A, NM_001242899.2:c.2256C>A, NM_001242899.1:c.2256C>A, NM_001242900.2:c.2256C>A, NM_001242900.1:c.2256C>A, NM_001351646.2:c.2250C>A, NM_001351646.1:c.2250C>A, NM_001351648.2:c.1767C>A, NM_001351648.1:c.1767C>A, NM_001365836.1:c.2334C>A, XM_011530736.4:c.2340C>A, XM_011530736.3:c.2340C>A, XM_011530736.2:c.2340C>A, XM_011530736.1:c.2340C>A, XM_006724431.4:c.2337C>A, XM_006724431.3:c.2337C>A, XM_006724431.2:c.2337C>A, XM_006724431.1:c.2337C>A, XM_011530737.3:c.2340C>A, XM_011530737.2:c.2340C>A, XM_011530737.1:c.2340C>A, XM_011530732.3:c.2406C>A, XM_011530732.2:c.2406C>A, XM_011530732.1:c.2406C>A, XM_011530734.3:c.2406C>A, XM_011530734.2:c.2406C>A, XM_011530734.1:c.2406C>A, XM_011530721.3:c.2403C>A, XM_011530721.2:c.2403C>A, XM_011530721.1:c.2403C>A, XM_011530720.3:c.2403C>A, XM_011530720.2:c.2403C>A, XM_011530720.1:c.2403C>A, XM_011530722.3:c.2400C>A, XM_011530722.2:c.2400C>A, XM_011530722.1:c.2400C>A, XM_011530723.3:c.2406C>A, XM_011530723.2:c.2406C>A, XM_011530723.1:c.2406C>A, XM_011530724.3:c.2403C>A, XM_011530724.2:c.2403C>A, XM_011530724.1:c.2403C>A, XM_011530739.3:c.2340C>A, XM_011530739.2:c.2340C>A, XM_011530739.1:c.2340C>A, XM_011530726.3:c.2325C>A, XM_011530726.2:c.2325C>A, XM_011530726.1:c.2325C>A, XM_011530727.3:c.2322C>A, XM_011530727.2:c.2322C>A, XM_011530727.1:c.2322C>A, XM_011530728.3:c.2325C>A, XM_011530728.2:c.2325C>A, XM_011530728.1:c.2325C>A, XM_011530730.3:c.2322C>A, XM_011530730.2:c.2322C>A, XM_011530730.1:c.2322C>A, XM_011530729.3:c.2322C>A, XM_011530729.2:c.2322C>A, XM_011530729.1:c.2322C>A, XM_011530740.3:c.2136C>A, XM_011530740.2:c.2136C>A, XM_011530740.1:c.2136C>A, XM_017029120.2:c.2400C>A, XM_017029120.1:c.2400C>A, XM_024452306.2:c.2403C>A, XM_024452306.1:c.2403C>A, XM_017029116.2:c.2319C>A, XM_017029116.1:c.2319C>A, XM_011530731.2:c.2319C>A, XM_011530731.1:c.2319C>A, XM_017029133.2:c.1854C>A, XM_017029133.1:c.1854C>A, XM_047441645.1:c.2523C>A, XM_047441659.1:c.2319C>A, XM_047441653.1:c.2400C>A, XM_047441648.1:c.2403C>A, XM_047441646.1:c.2403C>A, XM_047441642.1:c.2403C>A, XM_047441647.1:c.2403C>A, XM_047441651.1:c.2400C>A, XM_047441655.1:c.2319C>A, XM_047441656.1:c.2322C>A, XM_047441658.1:c.2319C>A, XM_047441643.1:c.2403C>A, XM_047441644.1:c.2400C>A, XM_047441650.1:c.2403C>A, XM_047441649.1:c.2403C>A, XM_047441652.1:c.2400C>A, XM_047441654.1:c.2400C>A, XM_047441660.1:c.2319C>A, XM_047441657.1:c.2322C>A, XM_047441661.1:c.2319C>A, XM_047441638.1:c.2406C>A, XM_047441639.1:c.2400C>A, XM_047441641.1:c.2322C>A, XM_047441662.1:c.1572C>A, XM_047441640.1:c.2406C>A, XM_047441663.1:c.1530C>A, NP_055493.2:p.Ser751Arg, NP_001338572.1:p.Ser778Arg, NP_001338574.1:p.Ser751Arg, NP_001338571.1:p.Ser779Arg, NP_001338570.1:p.Ser779Arg, NP_001229827.1:p.Ser778Arg, NP_001338576.1:p.Ser616Arg, NP_001338573.1:p.Ser752Arg, NP_001229828.1:p.Ser752Arg, NP_001229829.1:p.Ser752Arg, NP_001338575.1:p.Ser750Arg, NP_001338577.1:p.Ser589Arg, NP_001352765.1:p.Ser778Arg, XP_011529038.1:p.Ser780Arg, XP_006724494.1:p.Ser779Arg, XP_011529039.1:p.Ser780Arg, XP_011529034.1:p.Ser802Arg, XP_011529036.1:p.Ser802Arg, XP_011529023.1:p.Ser801Arg, XP_011529022.1:p.Ser801Arg, XP_011529024.1:p.Ser800Arg, XP_011529025.1:p.Ser802Arg, XP_011529026.1:p.Ser801Arg, XP_011529041.1:p.Ser780Arg, XP_011529028.1:p.Ser775Arg, XP_011529029.1:p.Ser774Arg, XP_011529030.1:p.Ser775Arg, XP_011529032.1:p.Ser774Arg, XP_011529031.1:p.Ser774Arg, XP_011529042.1:p.Ser712Arg, XP_016884609.1:p.Ser800Arg, XP_024308074.1:p.Ser801Arg, XP_016884605.1:p.Ser773Arg, XP_011529033.1:p.Ser773Arg, XP_016884622.1:p.Ser618Arg, XP_047297601.1:p.Ser841Arg, XP_047297615.1:p.Ser773Arg, XP_047297609.1:p.Ser800Arg, XP_047297604.1:p.Ser801Arg, XP_047297602.1:p.Ser801Arg, XP_047297598.1:p.Ser801Arg, XP_047297603.1:p.Ser801Arg, XP_047297607.1:p.Ser800Arg, XP_047297611.1:p.Ser773Arg, XP_047297612.1:p.Ser774Arg, XP_047297614.1:p.Ser773Arg, XP_047297599.1:p.Ser801Arg, XP_047297600.1:p.Ser800Arg, XP_047297606.1:p.Ser801Arg, XP_047297605.1:p.Ser801Arg, XP_047297608.1:p.Ser800Arg, XP_047297610.1:p.Ser800Arg, XP_047297616.1:p.Ser773Arg, XP_047297613.1:p.Ser774Arg, XP_047297617.1:p.Ser773Arg, XP_047297594.1:p.Ser802Arg, XP_047297595.1:p.Ser800Arg, XP_047297597.1:p.Ser774Arg, XP_047297618.1:p.Ser524Arg, XP_047297596.1:p.Ser802Arg, XP_047297619.1:p.Ser510Arg

                                      19.

                                      rs1469883482 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        22:50444206 (GRCh38)
                                        22:50882635 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:50444205:G:
                                        Gene:
                                        PPP6R2 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000022.11:g.50444206del, NC_000022.10:g.50882635del, NG_054883.1:g.105890del, NM_014678.5:c.2758del, NM_014678.4:c.2758del, NM_001351643.2:c.2839del, NM_001351643.1:c.2839del, NM_001351645.2:c.2758del, NM_001351645.1:c.2758del, NM_001351642.2:c.2842del, NM_001351642.1:c.2842del, NM_001351641.2:c.2842del, NM_001351641.1:c.2842del, NM_001242898.2:c.2839del, NM_001242898.1:c.2839del, NM_001351647.2:c.2353del, NM_001351647.1:c.2353del, NM_001351644.2:c.2761del, NM_001351644.1:c.2761del, NM_001242899.2:c.2761del, NM_001242899.1:c.2761del, NM_001242900.2:c.2757del, NM_001242900.1:c.2757del, NM_001351646.2:c.2755del, NM_001351646.1:c.2755del, NM_001351648.2:c.2272del, NM_001351648.1:c.2272del, NM_001365836.1:c.2860del, NG_041810.1:g.35866del, XM_011530736.4:c.2866del, XM_011530736.3:c.2866del, XM_011530736.2:c.2866del, XM_011530736.1:c.2866del, XM_006724431.4:c.2863del, XM_006724431.3:c.2863del, XM_006724431.2:c.2863del, XM_006724431.1:c.2863del, XM_011530737.3:c.2866del, XM_011530737.2:c.2866del, XM_011530737.1:c.2866del, XM_011530732.3:c.2932del, XM_011530732.2:c.2932del, XM_011530732.1:c.2932del, XM_011530734.3:c.2932del, XM_011530734.2:c.2932del, XM_011530734.1:c.2932del, XM_011530721.3:c.2929del, XM_011530721.2:c.2929del, XM_011530721.1:c.2929del, XM_011530720.3:c.2929del, XM_011530720.2:c.2929del, XM_011530720.1:c.2929del, XM_011530722.3:c.2926del, XM_011530722.2:c.2926del, XM_011530722.1:c.2926del, XM_011530723.3:c.2911del, XM_011530723.2:c.2911del, XM_011530723.1:c.2911del, XM_011530724.3:c.2908del, XM_011530724.2:c.2908del, XM_011530724.1:c.2908del, XM_011530739.3:c.2866del, XM_011530739.2:c.2866del, XM_011530739.1:c.2866del, XM_011530726.3:c.2851del, XM_011530726.2:c.2851del, XM_011530726.1:c.2851del, XM_011530727.3:c.2848del, XM_011530727.2:c.2848del, XM_011530727.1:c.2848del, XM_011530728.3:c.2830del, XM_011530728.2:c.2830del, XM_011530728.1:c.2830del, XM_011530730.3:c.2827del, XM_011530730.2:c.2827del, XM_011530730.1:c.2827del, XM_011530729.3:c.2827del, XM_011530729.2:c.2827del, XM_011530729.1:c.2827del, XM_011530740.3:c.2662del, XM_011530740.2:c.2662del, XM_011530740.1:c.2662del, XM_017029120.2:c.2905del, XM_017029120.1:c.2905del, XM_024452306.2:c.2908del, XM_024452306.1:c.2908del, XM_017029116.2:c.2845del, XM_017029116.1:c.2845del, XM_011530731.2:c.2824del, XM_011530731.1:c.2824del, XM_017029133.2:c.2380del, XM_017029133.1:c.2380del, XM_047441645.1:c.3028del, XM_047441659.1:c.2824del, XM_047441653.1:c.2905del, XM_047441648.1:c.2908del, XM_047441646.1:c.2908del, XM_047441642.1:c.2929del, XM_047441647.1:c.2908del, XM_047441651.1:c.2905del, XM_047441655.1:c.2845del, XM_047441656.1:c.2827del, XM_047441658.1:c.2824del, XM_047441643.1:c.2929del, XM_047441644.1:c.2926del, XM_047441650.1:c.2908del, XM_047441649.1:c.2908del, XM_047441652.1:c.2905del, XM_047441654.1:c.2905del, XM_047441660.1:c.2824del, XM_047441657.1:c.2827del, XM_047441661.1:c.2824del, XM_047441638.1:c.2932del, XM_047441639.1:c.2905del, XM_047441641.1:c.2848del, XM_047441662.1:c.2077del, XM_047441663.1:c.2035del, NP_055493.2:p.Asp920fs, NP_001338572.1:p.Asp947fs, NP_001338574.1:p.Asp920fs, NP_001338571.1:p.Asp948fs, NP_001338570.1:p.Asp948fs, NP_001229827.1:p.Asp947fs, NP_001338576.1:p.Asp785fs, NP_001338573.1:p.Asp921fs, NP_001229828.1:p.Asp921fs, NP_001229829.1:p.Met920fs, NP_001338575.1:p.Asp919fs, NP_001338577.1:p.Asp758fs, NP_001352765.1:p.Asp954fs, XP_011529038.1:p.Asp956fs, XP_006724494.1:p.Asp955fs, XP_011529039.1:p.Asp956fs, XP_011529034.1:p.Asp978fs, XP_011529036.1:p.Asp978fs, XP_011529023.1:p.Asp977fs, XP_011529022.1:p.Asp977fs, XP_011529024.1:p.Asp976fs, XP_011529025.1:p.Asp971fs, XP_011529026.1:p.Asp970fs, XP_011529041.1:p.Asp956fs, XP_011529028.1:p.Asp951fs, XP_011529029.1:p.Asp950fs, XP_011529030.1:p.Asp944fs, XP_011529032.1:p.Asp943fs, XP_011529031.1:p.Asp943fs, XP_011529042.1:p.Asp888fs, XP_016884609.1:p.Asp969fs, XP_024308074.1:p.Asp970fs, XP_016884605.1:p.Asp949fs, XP_011529033.1:p.Asp942fs, XP_016884622.1:p.Asp794fs, XP_047297601.1:p.Asp1010fs, XP_047297615.1:p.Asp942fs, XP_047297609.1:p.Asp969fs, XP_047297604.1:p.Asp970fs, XP_047297602.1:p.Asp970fs, XP_047297598.1:p.Asp977fs, XP_047297603.1:p.Asp970fs, XP_047297607.1:p.Asp969fs, XP_047297611.1:p.Asp949fs, XP_047297612.1:p.Asp943fs, XP_047297614.1:p.Asp942fs, XP_047297599.1:p.Asp977fs, XP_047297600.1:p.Asp976fs, XP_047297606.1:p.Asp970fs, XP_047297605.1:p.Asp970fs, XP_047297608.1:p.Asp969fs, XP_047297610.1:p.Asp969fs, XP_047297616.1:p.Asp942fs, XP_047297613.1:p.Asp943fs, XP_047297617.1:p.Asp942fs, XP_047297594.1:p.Asp978fs, XP_047297595.1:p.Asp969fs, XP_047297597.1:p.Asp950fs, XP_047297618.1:p.Asp693fs, XP_047297619.1:p.Asp679fs

                                        20.

                                        rs1468660826 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          22:50444013 (GRCh38)
                                          22:50882442 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:50444012:A:G,NC_000022.11:50444012:A:T
                                          Gene:
                                          PPP6R2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000022.11:g.50444013A>G, NC_000022.11:g.50444013A>T, NC_000022.10:g.50882442A>G, NC_000022.10:g.50882442A>T, NG_054883.1:g.105697A>G, NG_054883.1:g.105697A>T, NM_014678.5:c.2646A>G, NM_014678.5:c.2646A>T, NM_014678.4:c.2646A>G, NM_014678.4:c.2646A>T, NM_001351643.2:c.2727A>G, NM_001351643.2:c.2727A>T, NM_001351643.1:c.2727A>G, NM_001351643.1:c.2727A>T, NM_001351645.2:c.2646A>G, NM_001351645.2:c.2646A>T, NM_001351645.1:c.2646A>G, NM_001351645.1:c.2646A>T, NM_001351642.2:c.2730A>G, NM_001351642.2:c.2730A>T, NM_001351642.1:c.2730A>G, NM_001351642.1:c.2730A>T, NM_001351641.2:c.2730A>G, NM_001351641.2:c.2730A>T, NM_001351641.1:c.2730A>G, NM_001351641.1:c.2730A>T, NM_001242898.2:c.2727A>G, NM_001242898.2:c.2727A>T, NM_001242898.1:c.2727A>G, NM_001242898.1:c.2727A>T, NM_001351647.2:c.2241A>G, NM_001351647.2:c.2241A>T, NM_001351647.1:c.2241A>G, NM_001351647.1:c.2241A>T, NM_001351644.2:c.2649A>G, NM_001351644.2:c.2649A>T, NM_001351644.1:c.2649A>G, NM_001351644.1:c.2649A>T, NM_001242899.2:c.2649A>G, NM_001242899.2:c.2649A>T, NM_001242899.1:c.2649A>G, NM_001242899.1:c.2649A>T, NM_001242900.2:c.2649A>G, NM_001242900.2:c.2649A>T, NM_001242900.1:c.2649A>G, NM_001242900.1:c.2649A>T, NM_001351646.2:c.2643A>G, NM_001351646.2:c.2643A>T, NM_001351646.1:c.2643A>G, NM_001351646.1:c.2643A>T, NM_001351648.2:c.2160A>G, NM_001351648.2:c.2160A>T, NM_001351648.1:c.2160A>G, NM_001351648.1:c.2160A>T, NM_001365836.1:c.2748A>G, NM_001365836.1:c.2748A>T, NG_041810.1:g.36059T>C, NG_041810.1:g.36059T>A, XM_011530736.4:c.2754A>G, XM_011530736.4:c.2754A>T, XM_011530736.3:c.2754A>G, XM_011530736.3:c.2754A>T, XM_011530736.2:c.2754A>G, XM_011530736.2:c.2754A>T, XM_011530736.1:c.2754A>G, XM_011530736.1:c.2754A>T, XM_006724431.4:c.2751A>G, XM_006724431.4:c.2751A>T, XM_006724431.3:c.2751A>G, XM_006724431.3:c.2751A>T, XM_006724431.2:c.2751A>G, XM_006724431.2:c.2751A>T, XM_006724431.1:c.2751A>G, XM_006724431.1:c.2751A>T, XM_011530737.3:c.2754A>G, XM_011530737.3:c.2754A>T, XM_011530737.2:c.2754A>G, XM_011530737.2:c.2754A>T, XM_011530737.1:c.2754A>G, XM_011530737.1:c.2754A>T, XM_011530732.3:c.2820A>G, XM_011530732.3:c.2820A>T, XM_011530732.2:c.2820A>G, XM_011530732.2:c.2820A>T, XM_011530732.1:c.2820A>G, XM_011530732.1:c.2820A>T, XM_011530734.3:c.2820A>G, XM_011530734.3:c.2820A>T, XM_011530734.2:c.2820A>G, XM_011530734.2:c.2820A>T, XM_011530734.1:c.2820A>G, XM_011530734.1:c.2820A>T, XM_011530721.3:c.2817A>G, XM_011530721.3:c.2817A>T, XM_011530721.2:c.2817A>G, XM_011530721.2:c.2817A>T, XM_011530721.1:c.2817A>G, XM_011530721.1:c.2817A>T, XM_011530720.3:c.2817A>G, XM_011530720.3:c.2817A>T, XM_011530720.2:c.2817A>G, XM_011530720.2:c.2817A>T, XM_011530720.1:c.2817A>G, XM_011530720.1:c.2817A>T, XM_011530722.3:c.2814A>G, XM_011530722.3:c.2814A>T, XM_011530722.2:c.2814A>G, XM_011530722.2:c.2814A>T, XM_011530722.1:c.2814A>G, XM_011530722.1:c.2814A>T, XM_011530723.3:c.2799A>G, XM_011530723.3:c.2799A>T, XM_011530723.2:c.2799A>G, 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