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Items: 1 to 20 of 70

1.

rs1487488402 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:90916861 (GRCh38)
    1:91382418 (GRCh37)
    Canonical SPDI:
    NC_000001.11:90916860:A:G
    Gene:
    ZNF644 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.90916861A>G, NC_000001.10:g.91382418A>G, NG_029760.1:g.110395T>C, NM_032186.5:c.255T>C, NM_032186.4:c.255T>C, NM_016620.4:c.255T>C, NM_016620.3:c.255T>C, NM_201269.3:c.3921T>C, NM_201269.2:c.3921T>C, XM_005271257.6:c.4044T>C, XM_005271257.5:c.4044T>C, XM_005271257.4:c.4044T>C, XM_005271257.3:c.4044T>C, XM_005271257.2:c.4044T>C, XM_005271257.1:c.4044T>C, XM_005271260.6:c.4044T>C, XM_005271260.5:c.4044T>C, XM_005271260.4:c.4044T>C, XM_005271260.3:c.4044T>C, XM_005271260.2:c.4044T>C, XM_005271260.1:c.4044T>C, XM_011542260.4:c.4044T>C, XM_011542260.3:c.4044T>C, XM_011542260.2:c.4044T>C, XM_011542260.1:c.4044T>C, XM_011542261.4:c.4044T>C, XM_011542261.3:c.4044T>C, XM_011542261.2:c.4044T>C, XM_011542261.1:c.4044T>C, XM_011542258.4:c.4044T>C, XM_011542258.3:c.4044T>C, XM_011542258.2:c.4044T>C, XM_011542258.1:c.4044T>C, XM_017002488.3:c.3921T>C, XM_017002488.2:c.3921T>C, XM_017002488.1:c.3921T>C, XM_017002489.3:c.3921T>C, XM_017002489.2:c.3921T>C, XM_017002489.1:c.3921T>C, XM_017002491.3:c.3921T>C, XM_017002491.2:c.3921T>C, XM_017002491.1:c.3921T>C, XM_017002492.3:c.255T>C, XM_017002492.2:c.255T>C, XM_017002492.1:c.255T>C, XM_017002493.3:c.255T>C, XM_017002493.2:c.255T>C, XM_017002493.1:c.255T>C, XM_047431938.1:c.4044T>C, XM_047431973.1:c.3921T>C, XM_047431936.1:c.4044T>C, XM_047431934.1:c.4044T>C, XM_047431965.1:c.3921T>C, XM_047431972.1:c.3921T>C, XM_047431962.1:c.3921T>C, XM_047431980.1:c.255T>C

    2.

    rs1483354962 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:90918058 (GRCh38)
      1:91383615 (GRCh37)
      Canonical SPDI:
      NC_000001.11:90918057:C:G,NC_000001.11:90918057:C:T
      Gene:
      ZNF644 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.90918058C>G, NC_000001.11:g.90918058C>T, NC_000001.10:g.91383615C>G, NC_000001.10:g.91383615C>T, NG_029760.1:g.109198G>C, NG_029760.1:g.109198G>A, NM_032186.5:c.119G>C, NM_032186.5:c.119G>A, NM_032186.4:c.119G>C, NM_032186.4:c.119G>A, NM_016620.4:c.119G>C, NM_016620.4:c.119G>A, NM_016620.3:c.119G>C, NM_016620.3:c.119G>A, NM_201269.3:c.3785G>C, NM_201269.3:c.3785G>A, NM_201269.2:c.3785G>C, NM_201269.2:c.3785G>A, XM_005271257.6:c.3908G>C, XM_005271257.6:c.3908G>A, XM_005271257.5:c.3908G>C, XM_005271257.5:c.3908G>A, XM_005271257.4:c.3908G>C, XM_005271257.4:c.3908G>A, XM_005271257.3:c.3908G>C, XM_005271257.3:c.3908G>A, XM_005271257.2:c.3908G>C, XM_005271257.2:c.3908G>A, XM_005271257.1:c.3908G>C, XM_005271257.1:c.3908G>A, XM_005271260.6:c.3908G>C, XM_005271260.6:c.3908G>A, XM_005271260.5:c.3908G>C, XM_005271260.5:c.3908G>A, XM_005271260.4:c.3908G>C, XM_005271260.4:c.3908G>A, XM_005271260.3:c.3908G>C, XM_005271260.3:c.3908G>A, XM_005271260.2:c.3908G>C, XM_005271260.2:c.3908G>A, XM_005271260.1:c.3908G>C, XM_005271260.1:c.3908G>A, XM_011542260.4:c.3908G>C, XM_011542260.4:c.3908G>A, XM_011542260.3:c.3908G>C, XM_011542260.3:c.3908G>A, XM_011542260.2:c.3908G>C, XM_011542260.2:c.3908G>A, XM_011542260.1:c.3908G>C, XM_011542260.1:c.3908G>A, XM_011542261.4:c.3908G>C, XM_011542261.4:c.3908G>A, XM_011542261.3:c.3908G>C, XM_011542261.3:c.3908G>A, XM_011542261.2:c.3908G>C, XM_011542261.2:c.3908G>A, XM_011542261.1:c.3908G>C, XM_011542261.1:c.3908G>A, XM_011542258.4:c.3908G>C, XM_011542258.4:c.3908G>A, XM_011542258.3:c.3908G>C, XM_011542258.3:c.3908G>A, XM_011542258.2:c.3908G>C, XM_011542258.2:c.3908G>A, XM_011542258.1:c.3908G>C, XM_011542258.1:c.3908G>A, XM_017002488.3:c.3785G>C, XM_017002488.3:c.3785G>A, XM_017002488.2:c.3785G>C, XM_017002488.2:c.3785G>A, XM_017002488.1:c.3785G>C, XM_017002488.1:c.3785G>A, XM_017002489.3:c.3785G>C, XM_017002489.3:c.3785G>A, XM_017002489.2:c.3785G>C, XM_017002489.2:c.3785G>A, XM_017002489.1:c.3785G>C, XM_017002489.1:c.3785G>A, XM_017002491.3:c.3785G>C, XM_017002491.3:c.3785G>A, XM_017002491.2:c.3785G>C, XM_017002491.2:c.3785G>A, XM_017002491.1:c.3785G>C, XM_017002491.1:c.3785G>A, XM_017002492.3:c.119G>C, XM_017002492.3:c.119G>A, XM_017002492.2:c.119G>C, XM_017002492.2:c.119G>A, XM_017002492.1:c.119G>C, XM_017002492.1:c.119G>A, XM_017002493.3:c.119G>C, XM_017002493.3:c.119G>A, XM_017002493.2:c.119G>C, XM_017002493.2:c.119G>A, XM_017002493.1:c.119G>C, XM_017002493.1:c.119G>A, XM_047431938.1:c.3908G>C, XM_047431938.1:c.3908G>A, XM_047431973.1:c.3785G>C, XM_047431973.1:c.3785G>A, XM_047431936.1:c.3908G>C, XM_047431936.1:c.3908G>A, XM_047431934.1:c.3908G>C, XM_047431934.1:c.3908G>A, XM_047431965.1:c.3785G>C, XM_047431965.1:c.3785G>A, XM_047431972.1:c.3785G>C, XM_047431972.1:c.3785G>A, XM_047431962.1:c.3785G>C, XM_047431962.1:c.3785G>A, XM_047431980.1:c.119G>C, XM_047431980.1:c.119G>A, NP_115562.3:p.Arg40Pro, NP_115562.3:p.Arg40Gln, NP_057704.2:p.Arg40Pro, NP_057704.2:p.Arg40Gln, NP_958357.1:p.Arg1262Pro, NP_958357.1:p.Arg1262Gln, XP_005271314.1:p.Arg1303Pro, XP_005271314.1:p.Arg1303Gln, XP_005271317.1:p.Arg1303Pro, XP_005271317.1:p.Arg1303Gln, XP_011540562.1:p.Arg1303Pro, XP_011540562.1:p.Arg1303Gln, XP_011540563.1:p.Arg1303Pro, XP_011540563.1:p.Arg1303Gln, XP_011540560.1:p.Arg1303Pro, XP_011540560.1:p.Arg1303Gln, XP_016857977.1:p.Arg1262Pro, XP_016857977.1:p.Arg1262Gln, XP_016857978.1:p.Arg1262Pro, XP_016857978.1:p.Arg1262Gln, XP_016857980.1:p.Arg1262Pro, XP_016857980.1:p.Arg1262Gln, XP_016857981.1:p.Arg40Pro, XP_016857981.1:p.Arg40Gln, XP_016857982.1:p.Arg40Pro, XP_016857982.1:p.Arg40Gln, XP_047287894.1:p.Arg1303Pro, XP_047287894.1:p.Arg1303Gln, XP_047287929.1:p.Arg1262Pro, XP_047287929.1:p.Arg1262Gln, XP_047287892.1:p.Arg1303Pro, XP_047287892.1:p.Arg1303Gln, XP_047287890.1:p.Arg1303Pro, XP_047287890.1:p.Arg1303Gln, XP_047287921.1:p.Arg1262Pro, XP_047287921.1:p.Arg1262Gln, XP_047287928.1:p.Arg1262Pro, XP_047287928.1:p.Arg1262Gln, XP_047287918.1:p.Arg1262Pro, XP_047287918.1:p.Arg1262Gln, XP_047287936.1:p.Arg40Pro, XP_047287936.1:p.Arg40Gln

      3.

      rs1483085400 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        1:90916973 (GRCh38)
        1:91382530 (GRCh37)
        Canonical SPDI:
        NC_000001.11:90916972:A:T
        Gene:
        ZNF644 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.90916973A>T, NC_000001.10:g.91382530A>T, NG_029760.1:g.110283T>A, NM_032186.5:c.143T>A, NM_032186.4:c.143T>A, NM_016620.4:c.143T>A, NM_016620.3:c.143T>A, NM_201269.3:c.3809T>A, NM_201269.2:c.3809T>A, XM_005271257.6:c.3932T>A, XM_005271257.5:c.3932T>A, XM_005271257.4:c.3932T>A, XM_005271257.3:c.3932T>A, XM_005271257.2:c.3932T>A, XM_005271257.1:c.3932T>A, XM_005271260.6:c.3932T>A, XM_005271260.5:c.3932T>A, XM_005271260.4:c.3932T>A, XM_005271260.3:c.3932T>A, XM_005271260.2:c.3932T>A, XM_005271260.1:c.3932T>A, XM_011542260.4:c.3932T>A, XM_011542260.3:c.3932T>A, XM_011542260.2:c.3932T>A, XM_011542260.1:c.3932T>A, XM_011542261.4:c.3932T>A, XM_011542261.3:c.3932T>A, XM_011542261.2:c.3932T>A, XM_011542261.1:c.3932T>A, XM_011542258.4:c.3932T>A, XM_011542258.3:c.3932T>A, XM_011542258.2:c.3932T>A, XM_011542258.1:c.3932T>A, XM_017002488.3:c.3809T>A, XM_017002488.2:c.3809T>A, XM_017002488.1:c.3809T>A, XM_017002489.3:c.3809T>A, XM_017002489.2:c.3809T>A, XM_017002489.1:c.3809T>A, XM_017002491.3:c.3809T>A, XM_017002491.2:c.3809T>A, XM_017002491.1:c.3809T>A, XM_017002492.3:c.143T>A, XM_017002492.2:c.143T>A, XM_017002492.1:c.143T>A, XM_017002493.3:c.143T>A, XM_017002493.2:c.143T>A, XM_017002493.1:c.143T>A, XM_047431938.1:c.3932T>A, XM_047431973.1:c.3809T>A, XM_047431936.1:c.3932T>A, XM_047431934.1:c.3932T>A, XM_047431965.1:c.3809T>A, XM_047431972.1:c.3809T>A, XM_047431962.1:c.3809T>A, XM_047431980.1:c.143T>A, NP_115562.3:p.Phe48Tyr, NP_057704.2:p.Phe48Tyr, NP_958357.1:p.Phe1270Tyr, XP_005271314.1:p.Phe1311Tyr, XP_005271317.1:p.Phe1311Tyr, XP_011540562.1:p.Phe1311Tyr, XP_011540563.1:p.Phe1311Tyr, XP_011540560.1:p.Phe1311Tyr, XP_016857977.1:p.Phe1270Tyr, XP_016857978.1:p.Phe1270Tyr, XP_016857980.1:p.Phe1270Tyr, XP_016857981.1:p.Phe48Tyr, XP_016857982.1:p.Phe48Tyr, XP_047287894.1:p.Phe1311Tyr, XP_047287929.1:p.Phe1270Tyr, XP_047287892.1:p.Phe1311Tyr, XP_047287890.1:p.Phe1311Tyr, XP_047287921.1:p.Phe1270Tyr, XP_047287928.1:p.Phe1270Tyr, XP_047287918.1:p.Phe1270Tyr, XP_047287936.1:p.Phe48Tyr

        4.

        rs1445735765 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:90916957 (GRCh38)
          1:91382514 (GRCh37)
          Canonical SPDI:
          NC_000001.11:90916956:A:G
          Gene:
          ZNF644 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000111/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.90916957A>G, NC_000001.10:g.91382514A>G, NG_029760.1:g.110299T>C, NM_032186.5:c.159T>C, NM_032186.4:c.159T>C, NM_016620.4:c.159T>C, NM_016620.3:c.159T>C, NM_201269.3:c.3825T>C, NM_201269.2:c.3825T>C, XM_005271257.6:c.3948T>C, XM_005271257.5:c.3948T>C, XM_005271257.4:c.3948T>C, XM_005271257.3:c.3948T>C, XM_005271257.2:c.3948T>C, XM_005271257.1:c.3948T>C, XM_005271260.6:c.3948T>C, XM_005271260.5:c.3948T>C, XM_005271260.4:c.3948T>C, XM_005271260.3:c.3948T>C, XM_005271260.2:c.3948T>C, XM_005271260.1:c.3948T>C, XM_011542260.4:c.3948T>C, XM_011542260.3:c.3948T>C, XM_011542260.2:c.3948T>C, XM_011542260.1:c.3948T>C, XM_011542261.4:c.3948T>C, XM_011542261.3:c.3948T>C, XM_011542261.2:c.3948T>C, XM_011542261.1:c.3948T>C, XM_011542258.4:c.3948T>C, XM_011542258.3:c.3948T>C, XM_011542258.2:c.3948T>C, XM_011542258.1:c.3948T>C, XM_017002488.3:c.3825T>C, XM_017002488.2:c.3825T>C, XM_017002488.1:c.3825T>C, XM_017002489.3:c.3825T>C, XM_017002489.2:c.3825T>C, XM_017002489.1:c.3825T>C, XM_017002491.3:c.3825T>C, XM_017002491.2:c.3825T>C, XM_017002491.1:c.3825T>C, XM_017002492.3:c.159T>C, XM_017002492.2:c.159T>C, XM_017002492.1:c.159T>C, XM_017002493.3:c.159T>C, XM_017002493.2:c.159T>C, XM_017002493.1:c.159T>C, XM_047431938.1:c.3948T>C, XM_047431973.1:c.3825T>C, XM_047431936.1:c.3948T>C, XM_047431934.1:c.3948T>C, XM_047431965.1:c.3825T>C, XM_047431972.1:c.3825T>C, XM_047431962.1:c.3825T>C, XM_047431980.1:c.159T>C

          5.

          rs1424384465 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:90916964 (GRCh38)
            1:91382521 (GRCh37)
            Canonical SPDI:
            NC_000001.11:90916963:G:C
            Gene:
            ZNF644 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000111/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.90916964G>C, NC_000001.10:g.91382521G>C, NG_029760.1:g.110292C>G, NM_032186.5:c.152C>G, NM_032186.4:c.152C>G, NM_016620.4:c.152C>G, NM_016620.3:c.152C>G, NM_201269.3:c.3818C>G, NM_201269.2:c.3818C>G, XM_005271257.6:c.3941C>G, XM_005271257.5:c.3941C>G, XM_005271257.4:c.3941C>G, XM_005271257.3:c.3941C>G, XM_005271257.2:c.3941C>G, XM_005271257.1:c.3941C>G, XM_005271260.6:c.3941C>G, XM_005271260.5:c.3941C>G, XM_005271260.4:c.3941C>G, XM_005271260.3:c.3941C>G, XM_005271260.2:c.3941C>G, XM_005271260.1:c.3941C>G, XM_011542260.4:c.3941C>G, XM_011542260.3:c.3941C>G, XM_011542260.2:c.3941C>G, XM_011542260.1:c.3941C>G, XM_011542261.4:c.3941C>G, XM_011542261.3:c.3941C>G, XM_011542261.2:c.3941C>G, XM_011542261.1:c.3941C>G, XM_011542258.4:c.3941C>G, XM_011542258.3:c.3941C>G, XM_011542258.2:c.3941C>G, XM_011542258.1:c.3941C>G, XM_017002488.3:c.3818C>G, XM_017002488.2:c.3818C>G, XM_017002488.1:c.3818C>G, XM_017002489.3:c.3818C>G, XM_017002489.2:c.3818C>G, XM_017002489.1:c.3818C>G, XM_017002491.3:c.3818C>G, XM_017002491.2:c.3818C>G, XM_017002491.1:c.3818C>G, XM_017002492.3:c.152C>G, XM_017002492.2:c.152C>G, XM_017002492.1:c.152C>G, XM_017002493.3:c.152C>G, XM_017002493.2:c.152C>G, XM_017002493.1:c.152C>G, XM_047431938.1:c.3941C>G, XM_047431973.1:c.3818C>G, XM_047431936.1:c.3941C>G, XM_047431934.1:c.3941C>G, XM_047431965.1:c.3818C>G, XM_047431972.1:c.3818C>G, XM_047431962.1:c.3818C>G, XM_047431980.1:c.152C>G, NP_115562.3:p.Pro51Arg, NP_057704.2:p.Pro51Arg, NP_958357.1:p.Pro1273Arg, XP_005271314.1:p.Pro1314Arg, XP_005271317.1:p.Pro1314Arg, XP_011540562.1:p.Pro1314Arg, XP_011540563.1:p.Pro1314Arg, XP_011540560.1:p.Pro1314Arg, XP_016857977.1:p.Pro1273Arg, XP_016857978.1:p.Pro1273Arg, XP_016857980.1:p.Pro1273Arg, XP_016857981.1:p.Pro51Arg, XP_016857982.1:p.Pro51Arg, XP_047287894.1:p.Pro1314Arg, XP_047287929.1:p.Pro1273Arg, XP_047287892.1:p.Pro1314Arg, XP_047287890.1:p.Pro1314Arg, XP_047287921.1:p.Pro1273Arg, XP_047287928.1:p.Pro1273Arg, XP_047287918.1:p.Pro1273Arg, XP_047287936.1:p.Pro51Arg

            6.

            rs1403545408 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:90918132 (GRCh38)
              1:91383689 (GRCh37)
              Canonical SPDI:
              NC_000001.11:90918131:T:C
              Gene:
              ZNF644 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.90918132T>C, NC_000001.10:g.91383689T>C, NG_029760.1:g.109124A>G, NM_032186.5:c.45A>G, NM_032186.4:c.45A>G, NM_016620.4:c.45A>G, NM_016620.3:c.45A>G, NM_201269.3:c.3711A>G, NM_201269.2:c.3711A>G, XM_005271257.6:c.3834A>G, XM_005271257.5:c.3834A>G, XM_005271257.4:c.3834A>G, XM_005271257.3:c.3834A>G, XM_005271257.2:c.3834A>G, XM_005271257.1:c.3834A>G, XM_005271260.6:c.3834A>G, XM_005271260.5:c.3834A>G, XM_005271260.4:c.3834A>G, XM_005271260.3:c.3834A>G, XM_005271260.2:c.3834A>G, XM_005271260.1:c.3834A>G, XM_011542260.4:c.3834A>G, XM_011542260.3:c.3834A>G, XM_011542260.2:c.3834A>G, XM_011542260.1:c.3834A>G, XM_011542261.4:c.3834A>G, XM_011542261.3:c.3834A>G, XM_011542261.2:c.3834A>G, XM_011542261.1:c.3834A>G, XM_011542258.4:c.3834A>G, XM_011542258.3:c.3834A>G, XM_011542258.2:c.3834A>G, XM_011542258.1:c.3834A>G, XM_017002488.3:c.3711A>G, XM_017002488.2:c.3711A>G, XM_017002488.1:c.3711A>G, XM_017002489.3:c.3711A>G, XM_017002489.2:c.3711A>G, XM_017002489.1:c.3711A>G, XM_017002491.3:c.3711A>G, XM_017002491.2:c.3711A>G, XM_017002491.1:c.3711A>G, XM_017002492.3:c.45A>G, XM_017002492.2:c.45A>G, XM_017002492.1:c.45A>G, XM_017002493.3:c.45A>G, XM_017002493.2:c.45A>G, XM_017002493.1:c.45A>G, XM_047431938.1:c.3834A>G, XM_047431973.1:c.3711A>G, XM_047431936.1:c.3834A>G, XM_047431934.1:c.3834A>G, XM_047431965.1:c.3711A>G, XM_047431972.1:c.3711A>G, XM_047431962.1:c.3711A>G, XM_047431980.1:c.45A>G

              7.

              rs1391954112 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:90916864 (GRCh38)
                1:91382421 (GRCh37)
                Canonical SPDI:
                NC_000001.11:90916863:T:C
                Gene:
                ZNF644 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.90916864T>C, NC_000001.10:g.91382421T>C, NG_029760.1:g.110392A>G, NM_032186.5:c.252A>G, NM_032186.4:c.252A>G, NM_016620.4:c.252A>G, NM_016620.3:c.252A>G, NM_201269.3:c.3918A>G, NM_201269.2:c.3918A>G, XM_005271257.6:c.4041A>G, XM_005271257.5:c.4041A>G, XM_005271257.4:c.4041A>G, XM_005271257.3:c.4041A>G, XM_005271257.2:c.4041A>G, XM_005271257.1:c.4041A>G, XM_005271260.6:c.4041A>G, XM_005271260.5:c.4041A>G, XM_005271260.4:c.4041A>G, XM_005271260.3:c.4041A>G, XM_005271260.2:c.4041A>G, XM_005271260.1:c.4041A>G, XM_011542260.4:c.4041A>G, XM_011542260.3:c.4041A>G, XM_011542260.2:c.4041A>G, XM_011542260.1:c.4041A>G, XM_011542261.4:c.4041A>G, XM_011542261.3:c.4041A>G, XM_011542261.2:c.4041A>G, XM_011542261.1:c.4041A>G, XM_011542258.4:c.4041A>G, XM_011542258.3:c.4041A>G, XM_011542258.2:c.4041A>G, XM_011542258.1:c.4041A>G, XM_017002488.3:c.3918A>G, XM_017002488.2:c.3918A>G, XM_017002488.1:c.3918A>G, XM_017002489.3:c.3918A>G, XM_017002489.2:c.3918A>G, XM_017002489.1:c.3918A>G, XM_017002491.3:c.3918A>G, XM_017002491.2:c.3918A>G, XM_017002491.1:c.3918A>G, XM_017002492.3:c.252A>G, XM_017002492.2:c.252A>G, XM_017002492.1:c.252A>G, XM_017002493.3:c.252A>G, XM_017002493.2:c.252A>G, XM_017002493.1:c.252A>G, XM_047431938.1:c.4041A>G, XM_047431973.1:c.3918A>G, XM_047431936.1:c.4041A>G, XM_047431934.1:c.4041A>G, XM_047431965.1:c.3918A>G, XM_047431972.1:c.3918A>G, XM_047431962.1:c.3918A>G, XM_047431980.1:c.252A>G

                8.

                rs1381805695 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:90916828 (GRCh38)
                  1:91382385 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:90916827:A:C
                  Gene:
                  ZNF644 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.90916828A>C, NC_000001.10:g.91382385A>C, NG_029760.1:g.110428T>G, NM_032186.5:c.288T>G, NM_032186.4:c.288T>G, NM_016620.4:c.288T>G, NM_016620.3:c.288T>G, NM_201269.3:c.3954T>G, NM_201269.2:c.3954T>G, XM_005271257.6:c.4077T>G, XM_005271257.5:c.4077T>G, XM_005271257.4:c.4077T>G, XM_005271257.3:c.4077T>G, XM_005271257.2:c.4077T>G, XM_005271257.1:c.4077T>G, XM_005271260.6:c.4077T>G, XM_005271260.5:c.4077T>G, XM_005271260.4:c.4077T>G, XM_005271260.3:c.4077T>G, XM_005271260.2:c.4077T>G, XM_005271260.1:c.4077T>G, XM_011542260.4:c.4077T>G, XM_011542260.3:c.4077T>G, XM_011542260.2:c.4077T>G, XM_011542260.1:c.4077T>G, XM_011542261.4:c.4077T>G, XM_011542261.3:c.4077T>G, XM_011542261.2:c.4077T>G, XM_011542261.1:c.4077T>G, XM_011542258.4:c.4077T>G, XM_011542258.3:c.4077T>G, XM_011542258.2:c.4077T>G, XM_011542258.1:c.4077T>G, XM_017002488.3:c.3954T>G, XM_017002488.2:c.3954T>G, XM_017002488.1:c.3954T>G, XM_017002489.3:c.3954T>G, XM_017002489.2:c.3954T>G, XM_017002489.1:c.3954T>G, XM_017002491.3:c.3954T>G, XM_017002491.2:c.3954T>G, XM_017002491.1:c.3954T>G, XM_017002492.3:c.288T>G, XM_017002492.2:c.288T>G, XM_017002492.1:c.288T>G, XM_017002493.3:c.288T>G, XM_017002493.2:c.288T>G, XM_017002493.1:c.288T>G, XM_047431938.1:c.4077T>G, XM_047431973.1:c.3954T>G, XM_047431936.1:c.4077T>G, XM_047431934.1:c.4077T>G, XM_047431965.1:c.3954T>G, XM_047431972.1:c.3954T>G, XM_047431962.1:c.3954T>G, XM_047431980.1:c.288T>G, NP_115562.3:p.Phe96Leu, NP_057704.2:p.Phe96Leu, NP_958357.1:p.Phe1318Leu, XP_005271314.1:p.Phe1359Leu, XP_005271317.1:p.Phe1359Leu, XP_011540562.1:p.Phe1359Leu, XP_011540563.1:p.Phe1359Leu, XP_011540560.1:p.Phe1359Leu, XP_016857977.1:p.Phe1318Leu, XP_016857978.1:p.Phe1318Leu, XP_016857980.1:p.Phe1318Leu, XP_016857981.1:p.Phe96Leu, XP_016857982.1:p.Phe96Leu, XP_047287894.1:p.Phe1359Leu, XP_047287929.1:p.Phe1318Leu, XP_047287892.1:p.Phe1359Leu, XP_047287890.1:p.Phe1359Leu, XP_047287921.1:p.Phe1318Leu, XP_047287928.1:p.Phe1318Leu, XP_047287918.1:p.Phe1318Leu, XP_047287936.1:p.Phe96Leu

                  9.

                  rs1380415912 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:90918074 (GRCh38)
                    1:91383631 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:90918073:C:T
                    Gene:
                    ZNF644 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.90918074C>T, NC_000001.10:g.91383631C>T, NG_029760.1:g.109182G>A, NM_032186.5:c.103G>A, NM_032186.4:c.103G>A, NM_016620.4:c.103G>A, NM_016620.3:c.103G>A, NM_201269.3:c.3769G>A, NM_201269.2:c.3769G>A, XM_005271257.6:c.3892G>A, XM_005271257.5:c.3892G>A, XM_005271257.4:c.3892G>A, XM_005271257.3:c.3892G>A, XM_005271257.2:c.3892G>A, XM_005271257.1:c.3892G>A, XM_005271260.6:c.3892G>A, XM_005271260.5:c.3892G>A, XM_005271260.4:c.3892G>A, XM_005271260.3:c.3892G>A, XM_005271260.2:c.3892G>A, XM_005271260.1:c.3892G>A, XM_011542260.4:c.3892G>A, XM_011542260.3:c.3892G>A, XM_011542260.2:c.3892G>A, XM_011542260.1:c.3892G>A, XM_011542261.4:c.3892G>A, XM_011542261.3:c.3892G>A, XM_011542261.2:c.3892G>A, XM_011542261.1:c.3892G>A, XM_011542258.4:c.3892G>A, XM_011542258.3:c.3892G>A, XM_011542258.2:c.3892G>A, XM_011542258.1:c.3892G>A, XM_017002488.3:c.3769G>A, XM_017002488.2:c.3769G>A, XM_017002488.1:c.3769G>A, XM_017002489.3:c.3769G>A, XM_017002489.2:c.3769G>A, XM_017002489.1:c.3769G>A, XM_017002491.3:c.3769G>A, XM_017002491.2:c.3769G>A, XM_017002491.1:c.3769G>A, XM_017002492.3:c.103G>A, XM_017002492.2:c.103G>A, XM_017002492.1:c.103G>A, XM_017002493.3:c.103G>A, XM_017002493.2:c.103G>A, XM_017002493.1:c.103G>A, XM_047431938.1:c.3892G>A, XM_047431973.1:c.3769G>A, XM_047431936.1:c.3892G>A, XM_047431934.1:c.3892G>A, XM_047431965.1:c.3769G>A, XM_047431972.1:c.3769G>A, XM_047431962.1:c.3769G>A, XM_047431980.1:c.103G>A, NP_115562.3:p.Glu35Lys, NP_057704.2:p.Glu35Lys, NP_958357.1:p.Glu1257Lys, XP_005271314.1:p.Glu1298Lys, XP_005271317.1:p.Glu1298Lys, XP_011540562.1:p.Glu1298Lys, XP_011540563.1:p.Glu1298Lys, XP_011540560.1:p.Glu1298Lys, XP_016857977.1:p.Glu1257Lys, XP_016857978.1:p.Glu1257Lys, XP_016857980.1:p.Glu1257Lys, XP_016857981.1:p.Glu35Lys, XP_016857982.1:p.Glu35Lys, XP_047287894.1:p.Glu1298Lys, XP_047287929.1:p.Glu1257Lys, XP_047287892.1:p.Glu1298Lys, XP_047287890.1:p.Glu1298Lys, XP_047287921.1:p.Glu1257Lys, XP_047287928.1:p.Glu1257Lys, XP_047287918.1:p.Glu1257Lys, XP_047287936.1:p.Glu35Lys

                    10.

                    rs1374298480 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:90982322 (GRCh38)
                      1:91447879 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:90982321:T:C
                      Gene:
                      ZNF644 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.90982322T>C, NC_000001.10:g.91447879T>C, NG_029760.1:g.44934A>G, NM_032186.5:c.10A>G, NM_032186.4:c.10A>G, NM_016620.4:c.10A>G, NM_016620.3:c.10A>G, NM_201269.3:c.32A>G, NM_201269.2:c.32A>G, XM_005271257.6:c.32A>G, XM_005271257.5:c.32A>G, XM_005271257.4:c.32A>G, XM_005271257.3:c.32A>G, XM_005271257.2:c.32A>G, XM_005271257.1:c.32A>G, XM_005271260.6:c.32A>G, XM_005271260.5:c.32A>G, XM_005271260.4:c.32A>G, XM_005271260.3:c.32A>G, XM_005271260.2:c.32A>G, XM_005271260.1:c.32A>G, XM_011542260.4:c.32A>G, XM_011542260.3:c.32A>G, XM_011542260.2:c.32A>G, XM_011542260.1:c.32A>G, XM_011542261.4:c.32A>G, XM_011542261.3:c.32A>G, XM_011542261.2:c.32A>G, XM_011542261.1:c.32A>G, XM_011542258.4:c.32A>G, XM_011542258.3:c.32A>G, XM_011542258.2:c.32A>G, XM_011542258.1:c.32A>G, XM_017002488.3:c.32A>G, XM_017002488.2:c.32A>G, XM_017002488.1:c.32A>G, XM_017002489.3:c.32A>G, XM_017002489.2:c.32A>G, XM_017002489.1:c.32A>G, XM_017002491.3:c.32A>G, XM_017002491.2:c.32A>G, XM_017002491.1:c.32A>G, XM_017002492.3:c.10A>G, XM_017002492.2:c.10A>G, XM_017002492.1:c.10A>G, XM_017002493.3:c.10A>G, XM_017002493.2:c.10A>G, XM_017002493.1:c.10A>G, XM_047431938.1:c.32A>G, XM_047431973.1:c.32A>G, XM_047431936.1:c.32A>G, XM_047431934.1:c.32A>G, XM_047431965.1:c.32A>G, XM_047431972.1:c.32A>G, XM_047431962.1:c.32A>G, XM_047431980.1:c.10A>G, NP_115562.3:p.Arg4Gly, NP_057704.2:p.Arg4Gly, NP_958357.1:p.Lys11Arg, XP_005271314.1:p.Lys11Arg, XP_005271317.1:p.Lys11Arg, XP_011540562.1:p.Lys11Arg, XP_011540563.1:p.Lys11Arg, XP_011540560.1:p.Lys11Arg, XP_016857977.1:p.Lys11Arg, XP_016857978.1:p.Lys11Arg, XP_016857980.1:p.Lys11Arg, XP_016857981.1:p.Arg4Gly, XP_016857982.1:p.Arg4Gly, XP_047287894.1:p.Lys11Arg, XP_047287929.1:p.Lys11Arg, XP_047287892.1:p.Lys11Arg, XP_047287890.1:p.Lys11Arg, XP_047287921.1:p.Lys11Arg, XP_047287928.1:p.Lys11Arg, XP_047287918.1:p.Lys11Arg, XP_047287936.1:p.Arg4Gly

                      11.

                      rs1364394267 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:90916879 (GRCh38)
                        1:91382436 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:90916878:C:T
                        Gene:
                        ZNF644 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.90916879C>T, NC_000001.10:g.91382436C>T, NG_029760.1:g.110377G>A, NM_032186.5:c.237G>A, NM_032186.4:c.237G>A, NM_016620.4:c.237G>A, NM_016620.3:c.237G>A, NM_201269.3:c.3903G>A, NM_201269.2:c.3903G>A, XM_005271257.6:c.4026G>A, XM_005271257.5:c.4026G>A, XM_005271257.4:c.4026G>A, XM_005271257.3:c.4026G>A, XM_005271257.2:c.4026G>A, XM_005271257.1:c.4026G>A, XM_005271260.6:c.4026G>A, XM_005271260.5:c.4026G>A, XM_005271260.4:c.4026G>A, XM_005271260.3:c.4026G>A, XM_005271260.2:c.4026G>A, XM_005271260.1:c.4026G>A, XM_011542260.4:c.4026G>A, XM_011542260.3:c.4026G>A, XM_011542260.2:c.4026G>A, XM_011542260.1:c.4026G>A, XM_011542261.4:c.4026G>A, XM_011542261.3:c.4026G>A, XM_011542261.2:c.4026G>A, XM_011542261.1:c.4026G>A, XM_011542258.4:c.4026G>A, XM_011542258.3:c.4026G>A, XM_011542258.2:c.4026G>A, XM_011542258.1:c.4026G>A, XM_017002488.3:c.3903G>A, XM_017002488.2:c.3903G>A, XM_017002488.1:c.3903G>A, XM_017002489.3:c.3903G>A, XM_017002489.2:c.3903G>A, XM_017002489.1:c.3903G>A, XM_017002491.3:c.3903G>A, XM_017002491.2:c.3903G>A, XM_017002491.1:c.3903G>A, XM_017002492.3:c.237G>A, XM_017002492.2:c.237G>A, XM_017002492.1:c.237G>A, XM_017002493.3:c.237G>A, XM_017002493.2:c.237G>A, XM_017002493.1:c.237G>A, XM_047431938.1:c.4026G>A, XM_047431973.1:c.3903G>A, XM_047431936.1:c.4026G>A, XM_047431934.1:c.4026G>A, XM_047431965.1:c.3903G>A, XM_047431972.1:c.3903G>A, XM_047431962.1:c.3903G>A, XM_047431980.1:c.237G>A

                        12.

                        rs1352636554 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:90918090 (GRCh38)
                          1:91383647 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:90918089:T:C
                          Gene:
                          ZNF644 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.90918090T>C, NC_000001.10:g.91383647T>C, NG_029760.1:g.109166A>G, NM_032186.5:c.87A>G, NM_032186.4:c.87A>G, NM_016620.4:c.87A>G, NM_016620.3:c.87A>G, NM_201269.3:c.3753A>G, NM_201269.2:c.3753A>G, XM_005271257.6:c.3876A>G, XM_005271257.5:c.3876A>G, XM_005271257.4:c.3876A>G, XM_005271257.3:c.3876A>G, XM_005271257.2:c.3876A>G, XM_005271257.1:c.3876A>G, XM_005271260.6:c.3876A>G, XM_005271260.5:c.3876A>G, XM_005271260.4:c.3876A>G, XM_005271260.3:c.3876A>G, XM_005271260.2:c.3876A>G, XM_005271260.1:c.3876A>G, XM_011542260.4:c.3876A>G, XM_011542260.3:c.3876A>G, XM_011542260.2:c.3876A>G, XM_011542260.1:c.3876A>G, XM_011542261.4:c.3876A>G, XM_011542261.3:c.3876A>G, XM_011542261.2:c.3876A>G, XM_011542261.1:c.3876A>G, XM_011542258.4:c.3876A>G, XM_011542258.3:c.3876A>G, XM_011542258.2:c.3876A>G, XM_011542258.1:c.3876A>G, XM_017002488.3:c.3753A>G, XM_017002488.2:c.3753A>G, XM_017002488.1:c.3753A>G, XM_017002489.3:c.3753A>G, XM_017002489.2:c.3753A>G, XM_017002489.1:c.3753A>G, XM_017002491.3:c.3753A>G, XM_017002491.2:c.3753A>G, XM_017002491.1:c.3753A>G, XM_017002492.3:c.87A>G, XM_017002492.2:c.87A>G, XM_017002492.1:c.87A>G, XM_017002493.3:c.87A>G, XM_017002493.2:c.87A>G, XM_017002493.1:c.87A>G, XM_047431938.1:c.3876A>G, XM_047431973.1:c.3753A>G, XM_047431936.1:c.3876A>G, XM_047431934.1:c.3876A>G, XM_047431965.1:c.3753A>G, XM_047431972.1:c.3753A>G, XM_047431962.1:c.3753A>G, XM_047431980.1:c.87A>G

                          13.

                          rs1347129553 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:90916971 (GRCh38)
                            1:91382528 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:90916970:G:C
                            Gene:
                            ZNF644 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.90916971G>C, NC_000001.10:g.91382528G>C, NG_029760.1:g.110285C>G, NM_032186.5:c.145C>G, NM_032186.4:c.145C>G, NM_016620.4:c.145C>G, NM_016620.3:c.145C>G, NM_201269.3:c.3811C>G, NM_201269.2:c.3811C>G, XM_005271257.6:c.3934C>G, XM_005271257.5:c.3934C>G, XM_005271257.4:c.3934C>G, XM_005271257.3:c.3934C>G, XM_005271257.2:c.3934C>G, XM_005271257.1:c.3934C>G, XM_005271260.6:c.3934C>G, XM_005271260.5:c.3934C>G, XM_005271260.4:c.3934C>G, XM_005271260.3:c.3934C>G, XM_005271260.2:c.3934C>G, XM_005271260.1:c.3934C>G, XM_011542260.4:c.3934C>G, XM_011542260.3:c.3934C>G, XM_011542260.2:c.3934C>G, XM_011542260.1:c.3934C>G, XM_011542261.4:c.3934C>G, XM_011542261.3:c.3934C>G, XM_011542261.2:c.3934C>G, XM_011542261.1:c.3934C>G, XM_011542258.4:c.3934C>G, XM_011542258.3:c.3934C>G, XM_011542258.2:c.3934C>G, XM_011542258.1:c.3934C>G, XM_017002488.3:c.3811C>G, XM_017002488.2:c.3811C>G, XM_017002488.1:c.3811C>G, XM_017002489.3:c.3811C>G, XM_017002489.2:c.3811C>G, XM_017002489.1:c.3811C>G, XM_017002491.3:c.3811C>G, XM_017002491.2:c.3811C>G, XM_017002491.1:c.3811C>G, XM_017002492.3:c.145C>G, XM_017002492.2:c.145C>G, XM_017002492.1:c.145C>G, XM_017002493.3:c.145C>G, XM_017002493.2:c.145C>G, XM_017002493.1:c.145C>G, XM_047431938.1:c.3934C>G, XM_047431973.1:c.3811C>G, XM_047431936.1:c.3934C>G, XM_047431934.1:c.3934C>G, XM_047431965.1:c.3811C>G, XM_047431972.1:c.3811C>G, XM_047431962.1:c.3811C>G, XM_047431980.1:c.145C>G, NP_115562.3:p.Arg49Gly, NP_057704.2:p.Arg49Gly, NP_958357.1:p.Arg1271Gly, XP_005271314.1:p.Arg1312Gly, XP_005271317.1:p.Arg1312Gly, XP_011540562.1:p.Arg1312Gly, XP_011540563.1:p.Arg1312Gly, XP_011540560.1:p.Arg1312Gly, XP_016857977.1:p.Arg1271Gly, XP_016857978.1:p.Arg1271Gly, XP_016857980.1:p.Arg1271Gly, XP_016857981.1:p.Arg49Gly, XP_016857982.1:p.Arg49Gly, XP_047287894.1:p.Arg1312Gly, XP_047287929.1:p.Arg1271Gly, XP_047287892.1:p.Arg1312Gly, XP_047287890.1:p.Arg1312Gly, XP_047287921.1:p.Arg1271Gly, XP_047287928.1:p.Arg1271Gly, XP_047287918.1:p.Arg1271Gly, XP_047287936.1:p.Arg49Gly

                            14.

                            rs1344068786 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:90916873 (GRCh38)
                              1:91382430 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:90916872:G:A
                              Gene:
                              ZNF644 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000111/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.90916873G>A, NC_000001.10:g.91382430G>A, NG_029760.1:g.110383C>T, NM_032186.5:c.243C>T, NM_032186.4:c.243C>T, NM_016620.4:c.243C>T, NM_016620.3:c.243C>T, NM_201269.3:c.3909C>T, NM_201269.2:c.3909C>T, XM_005271257.6:c.4032C>T, XM_005271257.5:c.4032C>T, XM_005271257.4:c.4032C>T, XM_005271257.3:c.4032C>T, XM_005271257.2:c.4032C>T, XM_005271257.1:c.4032C>T, XM_005271260.6:c.4032C>T, XM_005271260.5:c.4032C>T, XM_005271260.4:c.4032C>T, XM_005271260.3:c.4032C>T, XM_005271260.2:c.4032C>T, XM_005271260.1:c.4032C>T, XM_011542260.4:c.4032C>T, XM_011542260.3:c.4032C>T, XM_011542260.2:c.4032C>T, XM_011542260.1:c.4032C>T, XM_011542261.4:c.4032C>T, XM_011542261.3:c.4032C>T, XM_011542261.2:c.4032C>T, XM_011542261.1:c.4032C>T, XM_011542258.4:c.4032C>T, XM_011542258.3:c.4032C>T, XM_011542258.2:c.4032C>T, XM_011542258.1:c.4032C>T, XM_017002488.3:c.3909C>T, XM_017002488.2:c.3909C>T, XM_017002488.1:c.3909C>T, XM_017002489.3:c.3909C>T, XM_017002489.2:c.3909C>T, XM_017002489.1:c.3909C>T, XM_017002491.3:c.3909C>T, XM_017002491.2:c.3909C>T, XM_017002491.1:c.3909C>T, XM_017002492.3:c.243C>T, XM_017002492.2:c.243C>T, XM_017002492.1:c.243C>T, XM_017002493.3:c.243C>T, XM_017002493.2:c.243C>T, XM_017002493.1:c.243C>T, XM_047431938.1:c.4032C>T, XM_047431973.1:c.3909C>T, XM_047431936.1:c.4032C>T, XM_047431934.1:c.4032C>T, XM_047431965.1:c.3909C>T, XM_047431972.1:c.3909C>T, XM_047431962.1:c.3909C>T, XM_047431980.1:c.243C>T

                              15.

                              rs1323820326 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ATTTTC>- [Show Flanks]
                                Chromosome:
                                1:90918100 (GRCh38)
                                1:91383657 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:90918098:CATTTTC:C
                                Gene:
                                ZNF644 (Varview)
                                Functional Consequence:
                                inframe_deletion,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000111/1 (ALFA)
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.90918100_90918105del, NC_000001.10:g.91383657_91383662del, NG_029760.1:g.109152_109157del, NM_032186.5:c.73_78del, NM_032186.4:c.73_78del, NM_016620.4:c.73_78del, NM_016620.3:c.73_78del, NM_201269.3:c.3739_3744del, NM_201269.2:c.3739_3744del, XM_005271257.6:c.3862_3867del, XM_005271257.5:c.3862_3867del, XM_005271257.4:c.3862_3867del, XM_005271257.3:c.3862_3867del, XM_005271257.2:c.3862_3867del, XM_005271257.1:c.3862_3867del, XM_005271260.6:c.3862_3867del, XM_005271260.5:c.3862_3867del, XM_005271260.4:c.3862_3867del, XM_005271260.3:c.3862_3867del, XM_005271260.2:c.3862_3867del, XM_005271260.1:c.3862_3867del, XM_011542260.4:c.3862_3867del, XM_011542260.3:c.3862_3867del, XM_011542260.2:c.3862_3867del, XM_011542260.1:c.3862_3867del, XM_011542261.4:c.3862_3867del, XM_011542261.3:c.3862_3867del, XM_011542261.2:c.3862_3867del, XM_011542261.1:c.3862_3867del, XM_011542258.4:c.3862_3867del, XM_011542258.3:c.3862_3867del, XM_011542258.2:c.3862_3867del, XM_011542258.1:c.3862_3867del, XM_017002488.3:c.3739_3744del, XM_017002488.2:c.3739_3744del, XM_017002488.1:c.3739_3744del, XM_017002489.3:c.3739_3744del, XM_017002489.2:c.3739_3744del, XM_017002489.1:c.3739_3744del, XM_017002491.3:c.3739_3744del, XM_017002491.2:c.3739_3744del, XM_017002491.1:c.3739_3744del, XM_017002492.3:c.73_78del, XM_017002492.2:c.73_78del, XM_017002492.1:c.73_78del, XM_017002493.3:c.73_78del, XM_017002493.2:c.73_78del, XM_017002493.1:c.73_78del, XM_047431938.1:c.3862_3867del, XM_047431973.1:c.3739_3744del, XM_047431936.1:c.3862_3867del, XM_047431934.1:c.3862_3867del, XM_047431965.1:c.3739_3744del, XM_047431972.1:c.3739_3744del, XM_047431962.1:c.3739_3744del, XM_047431980.1:c.73_78del, NP_115562.3:p.Lys25_Met26del, NP_057704.2:p.Lys25_Met26del, NP_958357.1:p.Lys1247_Met1248del, XP_005271314.1:p.Lys1288_Met1289del, XP_005271317.1:p.Lys1288_Met1289del, XP_011540562.1:p.Lys1288_Met1289del, XP_011540563.1:p.Lys1288_Met1289del, XP_011540560.1:p.Lys1288_Met1289del, XP_016857977.1:p.Lys1247_Met1248del, XP_016857978.1:p.Lys1247_Met1248del, XP_016857980.1:p.Lys1247_Met1248del, XP_016857981.1:p.Lys25_Met26del, XP_016857982.1:p.Lys25_Met26del, XP_047287894.1:p.Lys1288_Met1289del, XP_047287929.1:p.Lys1247_Met1248del, XP_047287892.1:p.Lys1288_Met1289del, XP_047287890.1:p.Lys1288_Met1289del, XP_047287921.1:p.Lys1247_Met1248del, XP_047287928.1:p.Lys1247_Met1248del, XP_047287918.1:p.Lys1247_Met1248del, XP_047287936.1:p.Lys25_Met26del

                                16.

                                rs1316329439 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  1:90982317 (GRCh38)
                                  1:91447874 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:90982316:T:G
                                  Gene:
                                  ZNF644 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000001.11:g.90982317T>G, NC_000001.10:g.91447874T>G, NG_029760.1:g.44939A>C, NM_032186.5:c.15A>C, NM_032186.4:c.15A>C, NM_016620.4:c.15A>C, NM_016620.3:c.15A>C, NM_201269.3:c.37A>C, NM_201269.2:c.37A>C, XM_005271257.6:c.37A>C, XM_005271257.5:c.37A>C, XM_005271257.4:c.37A>C, XM_005271257.3:c.37A>C, XM_005271257.2:c.37A>C, XM_005271257.1:c.37A>C, XM_005271260.6:c.37A>C, XM_005271260.5:c.37A>C, XM_005271260.4:c.37A>C, XM_005271260.3:c.37A>C, XM_005271260.2:c.37A>C, XM_005271260.1:c.37A>C, XM_011542260.4:c.37A>C, XM_011542260.3:c.37A>C, XM_011542260.2:c.37A>C, XM_011542260.1:c.37A>C, XM_011542261.4:c.37A>C, XM_011542261.3:c.37A>C, XM_011542261.2:c.37A>C, XM_011542261.1:c.37A>C, XM_011542258.4:c.37A>C, XM_011542258.3:c.37A>C, XM_011542258.2:c.37A>C, XM_011542258.1:c.37A>C, XM_017002488.3:c.37A>C, XM_017002488.2:c.37A>C, XM_017002488.1:c.37A>C, XM_017002489.3:c.37A>C, XM_017002489.2:c.37A>C, XM_017002489.1:c.37A>C, XM_017002491.3:c.37A>C, XM_017002491.2:c.37A>C, XM_017002491.1:c.37A>C, XM_017002492.3:c.15A>C, XM_017002492.2:c.15A>C, XM_017002492.1:c.15A>C, XM_017002493.3:c.15A>C, XM_017002493.2:c.15A>C, XM_017002493.1:c.15A>C, XM_047431938.1:c.37A>C, XM_047431973.1:c.37A>C, XM_047431936.1:c.37A>C, XM_047431934.1:c.37A>C, XM_047431965.1:c.37A>C, XM_047431972.1:c.37A>C, XM_047431962.1:c.37A>C, XM_047431980.1:c.15A>C, NP_115562.3:p.Gln5His, NP_057704.2:p.Gln5His, NP_958357.1:p.Lys13Gln, XP_005271314.1:p.Lys13Gln, XP_005271317.1:p.Lys13Gln, XP_011540562.1:p.Lys13Gln, XP_011540563.1:p.Lys13Gln, XP_011540560.1:p.Lys13Gln, XP_016857977.1:p.Lys13Gln, XP_016857978.1:p.Lys13Gln, XP_016857980.1:p.Lys13Gln, XP_016857981.1:p.Gln5His, XP_016857982.1:p.Gln5His, XP_047287894.1:p.Lys13Gln, XP_047287929.1:p.Lys13Gln, XP_047287892.1:p.Lys13Gln, XP_047287890.1:p.Lys13Gln, XP_047287921.1:p.Lys13Gln, XP_047287928.1:p.Lys13Gln, XP_047287918.1:p.Lys13Gln, XP_047287936.1:p.Gln5His

                                  17.

                                  rs1306836271 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:90916909 (GRCh38)
                                    1:91382466 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:90916908:A:G
                                    Gene:
                                    ZNF644 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.90916909A>G, NC_000001.10:g.91382466A>G, NG_029760.1:g.110347T>C, NM_032186.5:c.207T>C, NM_032186.4:c.207T>C, NM_016620.4:c.207T>C, NM_016620.3:c.207T>C, NM_201269.3:c.3873T>C, NM_201269.2:c.3873T>C, XM_005271257.6:c.3996T>C, XM_005271257.5:c.3996T>C, XM_005271257.4:c.3996T>C, XM_005271257.3:c.3996T>C, XM_005271257.2:c.3996T>C, XM_005271257.1:c.3996T>C, XM_005271260.6:c.3996T>C, XM_005271260.5:c.3996T>C, XM_005271260.4:c.3996T>C, XM_005271260.3:c.3996T>C, XM_005271260.2:c.3996T>C, XM_005271260.1:c.3996T>C, XM_011542260.4:c.3996T>C, XM_011542260.3:c.3996T>C, XM_011542260.2:c.3996T>C, XM_011542260.1:c.3996T>C, XM_011542261.4:c.3996T>C, XM_011542261.3:c.3996T>C, XM_011542261.2:c.3996T>C, XM_011542261.1:c.3996T>C, XM_011542258.4:c.3996T>C, XM_011542258.3:c.3996T>C, XM_011542258.2:c.3996T>C, XM_011542258.1:c.3996T>C, XM_017002488.3:c.3873T>C, XM_017002488.2:c.3873T>C, XM_017002488.1:c.3873T>C, XM_017002489.3:c.3873T>C, XM_017002489.2:c.3873T>C, XM_017002489.1:c.3873T>C, XM_017002491.3:c.3873T>C, XM_017002491.2:c.3873T>C, XM_017002491.1:c.3873T>C, XM_017002492.3:c.207T>C, XM_017002492.2:c.207T>C, XM_017002492.1:c.207T>C, XM_017002493.3:c.207T>C, XM_017002493.2:c.207T>C, XM_017002493.1:c.207T>C, XM_047431938.1:c.3996T>C, XM_047431973.1:c.3873T>C, XM_047431936.1:c.3996T>C, XM_047431934.1:c.3996T>C, XM_047431965.1:c.3873T>C, XM_047431972.1:c.3873T>C, XM_047431962.1:c.3873T>C, XM_047431980.1:c.207T>C

                                    18.

                                    rs1295874303 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:90918080 (GRCh38)
                                      1:91383637 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:90918079:C:T
                                      Gene:
                                      ZNF644 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.90918080C>T, NC_000001.10:g.91383637C>T, NG_029760.1:g.109176G>A, NM_032186.5:c.97G>A, NM_032186.4:c.97G>A, NM_016620.4:c.97G>A, NM_016620.3:c.97G>A, NM_201269.3:c.3763G>A, NM_201269.2:c.3763G>A, XM_005271257.6:c.3886G>A, XM_005271257.5:c.3886G>A, XM_005271257.4:c.3886G>A, XM_005271257.3:c.3886G>A, XM_005271257.2:c.3886G>A, XM_005271257.1:c.3886G>A, XM_005271260.6:c.3886G>A, XM_005271260.5:c.3886G>A, XM_005271260.4:c.3886G>A, XM_005271260.3:c.3886G>A, XM_005271260.2:c.3886G>A, XM_005271260.1:c.3886G>A, XM_011542260.4:c.3886G>A, XM_011542260.3:c.3886G>A, XM_011542260.2:c.3886G>A, XM_011542260.1:c.3886G>A, XM_011542261.4:c.3886G>A, XM_011542261.3:c.3886G>A, XM_011542261.2:c.3886G>A, XM_011542261.1:c.3886G>A, XM_011542258.4:c.3886G>A, XM_011542258.3:c.3886G>A, XM_011542258.2:c.3886G>A, XM_011542258.1:c.3886G>A, XM_017002488.3:c.3763G>A, XM_017002488.2:c.3763G>A, XM_017002488.1:c.3763G>A, XM_017002489.3:c.3763G>A, XM_017002489.2:c.3763G>A, XM_017002489.1:c.3763G>A, XM_017002491.3:c.3763G>A, XM_017002491.2:c.3763G>A, XM_017002491.1:c.3763G>A, XM_017002492.3:c.97G>A, XM_017002492.2:c.97G>A, XM_017002492.1:c.97G>A, XM_017002493.3:c.97G>A, XM_017002493.2:c.97G>A, XM_017002493.1:c.97G>A, XM_047431938.1:c.3886G>A, XM_047431973.1:c.3763G>A, XM_047431936.1:c.3886G>A, XM_047431934.1:c.3886G>A, XM_047431965.1:c.3763G>A, XM_047431972.1:c.3763G>A, XM_047431962.1:c.3763G>A, XM_047431980.1:c.97G>A, NP_115562.3:p.Ala33Thr, NP_057704.2:p.Ala33Thr, NP_958357.1:p.Ala1255Thr, XP_005271314.1:p.Ala1296Thr, XP_005271317.1:p.Ala1296Thr, XP_011540562.1:p.Ala1296Thr, XP_011540563.1:p.Ala1296Thr, XP_011540560.1:p.Ala1296Thr, XP_016857977.1:p.Ala1255Thr, XP_016857978.1:p.Ala1255Thr, XP_016857980.1:p.Ala1255Thr, XP_016857981.1:p.Ala33Thr, XP_016857982.1:p.Ala33Thr, XP_047287894.1:p.Ala1296Thr, XP_047287929.1:p.Ala1255Thr, XP_047287892.1:p.Ala1296Thr, XP_047287890.1:p.Ala1296Thr, XP_047287921.1:p.Ala1255Thr, XP_047287928.1:p.Ala1255Thr, XP_047287918.1:p.Ala1255Thr, XP_047287936.1:p.Ala33Thr

                                      19.

                                      rs1289106828 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        1:90916908 (GRCh38)
                                        1:91382465 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:90916907:T:A
                                        Gene:
                                        ZNF644 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        NC_000001.11:g.90916908T>A, NC_000001.10:g.91382465T>A, NG_029760.1:g.110348A>T, NM_032186.5:c.208A>T, NM_032186.4:c.208A>T, NM_016620.4:c.208A>T, NM_016620.3:c.208A>T, NM_201269.3:c.3874A>T, NM_201269.2:c.3874A>T, XM_005271257.6:c.3997A>T, XM_005271257.5:c.3997A>T, XM_005271257.4:c.3997A>T, XM_005271257.3:c.3997A>T, XM_005271257.2:c.3997A>T, XM_005271257.1:c.3997A>T, XM_005271260.6:c.3997A>T, XM_005271260.5:c.3997A>T, XM_005271260.4:c.3997A>T, XM_005271260.3:c.3997A>T, XM_005271260.2:c.3997A>T, XM_005271260.1:c.3997A>T, XM_011542260.4:c.3997A>T, XM_011542260.3:c.3997A>T, XM_011542260.2:c.3997A>T, XM_011542260.1:c.3997A>T, XM_011542261.4:c.3997A>T, XM_011542261.3:c.3997A>T, XM_011542261.2:c.3997A>T, XM_011542261.1:c.3997A>T, XM_011542258.4:c.3997A>T, XM_011542258.3:c.3997A>T, XM_011542258.2:c.3997A>T, XM_011542258.1:c.3997A>T, XM_017002488.3:c.3874A>T, XM_017002488.2:c.3874A>T, XM_017002488.1:c.3874A>T, XM_017002489.3:c.3874A>T, XM_017002489.2:c.3874A>T, XM_017002489.1:c.3874A>T, XM_017002491.3:c.3874A>T, XM_017002491.2:c.3874A>T, XM_017002491.1:c.3874A>T, XM_017002492.3:c.208A>T, XM_017002492.2:c.208A>T, XM_017002492.1:c.208A>T, XM_017002493.3:c.208A>T, XM_017002493.2:c.208A>T, XM_017002493.1:c.208A>T, XM_047431938.1:c.3997A>T, XM_047431973.1:c.3874A>T, XM_047431936.1:c.3997A>T, XM_047431934.1:c.3997A>T, XM_047431965.1:c.3874A>T, XM_047431972.1:c.3874A>T, XM_047431962.1:c.3874A>T, XM_047431980.1:c.208A>T, NP_115562.3:p.Asn70Tyr, NP_057704.2:p.Asn70Tyr, NP_958357.1:p.Asn1292Tyr, XP_005271314.1:p.Asn1333Tyr, XP_005271317.1:p.Asn1333Tyr, XP_011540562.1:p.Asn1333Tyr, XP_011540563.1:p.Asn1333Tyr, XP_011540560.1:p.Asn1333Tyr, XP_016857977.1:p.Asn1292Tyr, XP_016857978.1:p.Asn1292Tyr, XP_016857980.1:p.Asn1292Tyr, XP_016857981.1:p.Asn70Tyr, XP_016857982.1:p.Asn70Tyr, XP_047287894.1:p.Asn1333Tyr, XP_047287929.1:p.Asn1292Tyr, XP_047287892.1:p.Asn1333Tyr, XP_047287890.1:p.Asn1333Tyr, XP_047287921.1:p.Asn1292Tyr, XP_047287928.1:p.Asn1292Tyr, XP_047287918.1:p.Asn1292Tyr, XP_047287936.1:p.Asn70Tyr

                                        20.

                                        rs1279019524 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          1:90916878 (GRCh38)
                                          1:91382435 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:90916877:C:A
                                          Gene:
                                          ZNF644 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,stop_gained
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.90916878C>A, NC_000001.10:g.91382435C>A, NG_029760.1:g.110378G>T, NM_032186.5:c.238G>T, NM_032186.4:c.238G>T, NM_016620.4:c.238G>T, NM_016620.3:c.238G>T, NM_201269.3:c.3904G>T, NM_201269.2:c.3904G>T, XM_005271257.6:c.4027G>T, XM_005271257.5:c.4027G>T, XM_005271257.4:c.4027G>T, XM_005271257.3:c.4027G>T, XM_005271257.2:c.4027G>T, XM_005271257.1:c.4027G>T, XM_005271260.6:c.4027G>T, XM_005271260.5:c.4027G>T, XM_005271260.4:c.4027G>T, XM_005271260.3:c.4027G>T, XM_005271260.2:c.4027G>T, XM_005271260.1:c.4027G>T, XM_011542260.4:c.4027G>T, XM_011542260.3:c.4027G>T, XM_011542260.2:c.4027G>T, XM_011542260.1:c.4027G>T, XM_011542261.4:c.4027G>T, XM_011542261.3:c.4027G>T, XM_011542261.2:c.4027G>T, XM_011542261.1:c.4027G>T, XM_011542258.4:c.4027G>T, XM_011542258.3:c.4027G>T, XM_011542258.2:c.4027G>T, XM_011542258.1:c.4027G>T, XM_017002488.3:c.3904G>T, XM_017002488.2:c.3904G>T, XM_017002488.1:c.3904G>T, XM_017002489.3:c.3904G>T, XM_017002489.2:c.3904G>T, XM_017002489.1:c.3904G>T, XM_017002491.3:c.3904G>T, XM_017002491.2:c.3904G>T, XM_017002491.1:c.3904G>T, XM_017002492.3:c.238G>T, XM_017002492.2:c.238G>T, XM_017002492.1:c.238G>T, XM_017002493.3:c.238G>T, XM_017002493.2:c.238G>T, XM_017002493.1:c.238G>T, XM_047431938.1:c.4027G>T, XM_047431973.1:c.3904G>T, XM_047431936.1:c.4027G>T, XM_047431934.1:c.4027G>T, XM_047431965.1:c.3904G>T, XM_047431972.1:c.3904G>T, XM_047431962.1:c.3904G>T, XM_047431980.1:c.238G>T, NP_115562.3:p.Glu80Ter, NP_057704.2:p.Glu80Ter, NP_958357.1:p.Glu1302Ter, XP_005271314.1:p.Glu1343Ter, XP_005271317.1:p.Glu1343Ter, XP_011540562.1:p.Glu1343Ter, XP_011540563.1:p.Glu1343Ter, XP_011540560.1:p.Glu1343Ter, XP_016857977.1:p.Glu1302Ter, XP_016857978.1:p.Glu1302Ter, XP_016857980.1:p.Glu1302Ter, XP_016857981.1:p.Glu80Ter, XP_016857982.1:p.Glu80Ter, XP_047287894.1:p.Glu1343Ter, XP_047287929.1:p.Glu1302Ter, XP_047287892.1:p.Glu1343Ter, XP_047287890.1:p.Glu1343Ter, XP_047287921.1:p.Glu1302Ter, XP_047287928.1:p.Glu1302Ter, XP_047287918.1:p.Glu1302Ter, XP_047287936.1:p.Glu80Ter

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