U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 555

1.

rs1487490655 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:56223635 (GRCh38)
    19:56735004 (GRCh37)
    Canonical SPDI:
    NC_000019.10:56223634:C:T
    Gene:
    ZSCAN5A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.56223635C>T, NC_000019.9:g.56735004C>T, NM_001322061.4:c.584G>A, NM_001322061.3:c.584G>A, NM_001322061.2:c.743G>A, NM_001322061.1:c.743G>A, NM_024303.4:c.584G>A, NM_024303.3:c.584G>A, NM_024303.2:c.584G>A, NM_024303.1:c.584G>A, NM_001322072.3:c.584G>A, NM_001322072.2:c.584G>A, NM_001322072.1:c.584G>A, NM_001322064.3:c.584G>A, NM_001322064.2:c.584G>A, NM_001322064.1:c.584G>A, NM_001322065.3:c.584G>A, NM_001322065.2:c.584G>A, NM_001322065.1:c.584G>A, NM_001322077.3:c.233G>A, NM_001322077.2:c.233G>A, NM_001322077.1:c.233G>A, NM_001322078.3:c.194G>A, NM_001322078.2:c.194G>A, NM_001322078.1:c.194G>A, NM_001322074.2:c.584G>A, NM_001322074.1:c.584G>A, NM_001322068.2:c.584G>A, NM_001322068.1:c.584G>A, NM_001322066.2:c.584G>A, NM_001322066.1:c.584G>A, NM_001322075.2:c.584G>A, NM_001322075.1:c.584G>A, NM_001322062.2:c.584G>A, NM_001322062.1:c.743G>A, NM_001322073.2:c.584G>A, NM_001322073.1:c.584G>A, NM_001322067.2:c.584G>A, NM_001322067.1:c.584G>A, NM_001322070.2:c.584G>A, NM_001322070.1:c.584G>A, NM_001322076.2:c.584G>A, NM_001322076.1:c.584G>A, NM_001322069.1:c.584G>A, NM_001387859.1:c.584G>A, NM_001387853.1:c.584G>A, NM_001387856.1:c.584G>A, NM_001387855.1:c.584G>A, NM_001387857.1:c.584G>A, NM_001387854.1:c.584G>A, NM_001387858.1:c.584G>A, NP_001308990.2:p.Arg195Lys, NP_077279.1:p.Arg195Lys, NP_001309001.1:p.Arg195Lys, NP_001308993.1:p.Arg195Lys, NP_001308994.1:p.Arg195Lys, NP_001309006.1:p.Arg78Lys, NP_001309007.1:p.Arg65Lys, NP_001309003.1:p.Arg195Lys, NP_001308997.1:p.Arg195Lys, NP_001308995.1:p.Arg195Lys, NP_001309004.1:p.Arg195Lys, NP_001308991.2:p.Arg195Lys, NP_001309002.1:p.Arg195Lys, NP_001308996.1:p.Arg195Lys, NP_001308999.1:p.Arg195Lys, NP_001309005.1:p.Arg195Lys, NP_001374788.1:p.Arg195Lys, NP_001374782.1:p.Arg195Lys, NP_001374785.1:p.Arg195Lys, NP_001374784.1:p.Arg195Lys, NP_001374786.1:p.Arg195Lys, NP_001374783.1:p.Arg195Lys, NP_001374787.1:p.Arg195Lys

    2.

    rs1479065619 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:56223818 (GRCh38)
      19:56735187 (GRCh37)
      Canonical SPDI:
      NC_000019.10:56223817:T:C
      Gene:
      ZSCAN5A (Varview)
      Functional Consequence:
      missense_variant,intron_variant,coding_sequence_variant
      HGVS:
      NC_000019.10:g.56223818T>C, NC_000019.9:g.56735187T>C, NM_001322061.4:c.401A>G, NM_001322061.3:c.401A>G, NM_001322061.2:c.560A>G, NM_001322061.1:c.560A>G, NM_024303.4:c.401A>G, NM_024303.3:c.401A>G, NM_024303.2:c.401A>G, NM_024303.1:c.401A>G, NM_001322072.3:c.401A>G, NM_001322072.2:c.401A>G, NM_001322072.1:c.401A>G, NM_001322064.3:c.401A>G, NM_001322064.2:c.401A>G, NM_001322064.1:c.401A>G, NM_001322065.3:c.401A>G, NM_001322065.2:c.401A>G, NM_001322065.1:c.401A>G, NM_001322077.3:c.50A>G, NM_001322077.2:c.50A>G, NM_001322077.1:c.50A>G, NM_001322074.2:c.401A>G, NM_001322074.1:c.401A>G, NM_001322068.2:c.401A>G, NM_001322068.1:c.401A>G, NM_001322066.2:c.401A>G, NM_001322066.1:c.401A>G, NM_001322075.2:c.401A>G, NM_001322075.1:c.401A>G, NM_001322062.2:c.401A>G, NM_001322062.1:c.560A>G, NM_001322073.2:c.401A>G, NM_001322073.1:c.401A>G, NM_001322067.2:c.401A>G, NM_001322067.1:c.401A>G, NM_001322070.2:c.401A>G, NM_001322070.1:c.401A>G, NM_001322076.2:c.401A>G, NM_001322076.1:c.401A>G, NM_001322069.1:c.401A>G, NM_001387859.1:c.401A>G, NM_001387853.1:c.401A>G, NM_001387856.1:c.401A>G, NM_001387855.1:c.401A>G, NM_001387857.1:c.401A>G, NM_001387854.1:c.401A>G, NM_001387858.1:c.401A>G, NP_001308990.2:p.His134Arg, NP_077279.1:p.His134Arg, NP_001309001.1:p.His134Arg, NP_001308993.1:p.His134Arg, NP_001308994.1:p.His134Arg, NP_001309006.1:p.His17Arg, NP_001309003.1:p.His134Arg, NP_001308997.1:p.His134Arg, NP_001308995.1:p.His134Arg, NP_001309004.1:p.His134Arg, NP_001308991.2:p.His134Arg, NP_001309002.1:p.His134Arg, NP_001308996.1:p.His134Arg, NP_001308999.1:p.His134Arg, NP_001309005.1:p.His134Arg, NP_001374788.1:p.His134Arg, NP_001374782.1:p.His134Arg, NP_001374785.1:p.His134Arg, NP_001374784.1:p.His134Arg, NP_001374786.1:p.His134Arg, NP_001374783.1:p.His134Arg, NP_001374787.1:p.His134Arg

      3.

      rs1473788109 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        19:56225005 (GRCh38)
        19:56736374 (GRCh37)
        Canonical SPDI:
        NC_000019.10:56225004:G:A,NC_000019.10:56225004:G:C
        Gene:
        ZSCAN5A (Varview)
        Functional Consequence:
        synonymous_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000019.10:g.56225005G>A, NC_000019.10:g.56225005G>C, NC_000019.9:g.56736374G>A, NC_000019.9:g.56736374G>C, NM_001322061.4:c.42C>T, NM_001322061.4:c.42C>G, NM_001322061.3:c.42C>T, NM_001322061.3:c.42C>G, NM_001322061.2:c.201C>T, NM_001322061.2:c.201C>G, NM_001322061.1:c.201C>T, NM_001322061.1:c.201C>G, NM_024303.4:c.42C>T, NM_024303.4:c.42C>G, NM_024303.3:c.42C>T, NM_024303.3:c.42C>G, NM_024303.2:c.42C>T, NM_024303.2:c.42C>G, NM_024303.1:c.42C>T, NM_024303.1:c.42C>G, NM_001322072.3:c.42C>T, NM_001322072.3:c.42C>G, NM_001322072.2:c.42C>T, NM_001322072.2:c.42C>G, NM_001322072.1:c.42C>T, NM_001322072.1:c.42C>G, NM_001322064.3:c.42C>T, NM_001322064.3:c.42C>G, NM_001322064.2:c.42C>T, NM_001322064.2:c.42C>G, NM_001322064.1:c.42C>T, NM_001322064.1:c.42C>G, NM_001322065.3:c.42C>T, NM_001322065.3:c.42C>G, NM_001322065.2:c.42C>T, NM_001322065.2:c.42C>G, NM_001322065.1:c.42C>T, NM_001322065.1:c.42C>G, NM_001322074.2:c.42C>T, NM_001322074.2:c.42C>G, NM_001322074.1:c.42C>T, NM_001322074.1:c.42C>G, NM_001322068.2:c.42C>T, NM_001322068.2:c.42C>G, NM_001322068.1:c.42C>T, NM_001322068.1:c.42C>G, NM_001322066.2:c.42C>T, NM_001322066.2:c.42C>G, NM_001322066.1:c.42C>T, NM_001322066.1:c.42C>G, NM_001322075.2:c.42C>T, NM_001322075.2:c.42C>G, NM_001322075.1:c.42C>T, NM_001322075.1:c.42C>G, NM_001322062.2:c.42C>T, NM_001322062.2:c.42C>G, NM_001322062.1:c.201C>T, NM_001322062.1:c.201C>G, NM_001322073.2:c.42C>T, NM_001322073.2:c.42C>G, NM_001322073.1:c.42C>T, NM_001322073.1:c.42C>G, NM_001322067.2:c.42C>T, NM_001322067.2:c.42C>G, NM_001322067.1:c.42C>T, NM_001322067.1:c.42C>G, NM_001322070.2:c.42C>T, NM_001322070.2:c.42C>G, NM_001322070.1:c.42C>T, NM_001322070.1:c.42C>G, NM_001322076.2:c.42C>T, NM_001322076.2:c.42C>G, NM_001322076.1:c.42C>T, NM_001322076.1:c.42C>G, NM_001322069.1:c.42C>T, NM_001322069.1:c.42C>G, NM_001387859.1:c.42C>T, NM_001387859.1:c.42C>G, NM_001387853.1:c.42C>T, NM_001387853.1:c.42C>G, NM_001387856.1:c.42C>T, NM_001387856.1:c.42C>G, NM_001387855.1:c.42C>T, NM_001387855.1:c.42C>G, NM_001387857.1:c.42C>T, NM_001387857.1:c.42C>G, NM_001387854.1:c.42C>T, NM_001387854.1:c.42C>G, NM_001387858.1:c.42C>T, NM_001387858.1:c.42C>G

        4.

        rs1473360888 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:56223639 (GRCh38)
          19:56735008 (GRCh37)
          Canonical SPDI:
          NC_000019.10:56223638:T:C
          Gene:
          ZSCAN5A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000007/1 (GnomAD)
          C=0.000011/3 (TOPMED)
          HGVS:
          NC_000019.10:g.56223639T>C, NC_000019.9:g.56735008T>C, NM_001322061.4:c.580A>G, NM_001322061.3:c.580A>G, NM_001322061.2:c.739A>G, NM_001322061.1:c.739A>G, NM_024303.4:c.580A>G, NM_024303.3:c.580A>G, NM_024303.2:c.580A>G, NM_024303.1:c.580A>G, NM_001322072.3:c.580A>G, NM_001322072.2:c.580A>G, NM_001322072.1:c.580A>G, NM_001322064.3:c.580A>G, NM_001322064.2:c.580A>G, NM_001322064.1:c.580A>G, NM_001322065.3:c.580A>G, NM_001322065.2:c.580A>G, NM_001322065.1:c.580A>G, NM_001322077.3:c.229A>G, NM_001322077.2:c.229A>G, NM_001322077.1:c.229A>G, NM_001322078.3:c.190A>G, NM_001322078.2:c.190A>G, NM_001322078.1:c.190A>G, NM_001322074.2:c.580A>G, NM_001322074.1:c.580A>G, NM_001322068.2:c.580A>G, NM_001322068.1:c.580A>G, NM_001322066.2:c.580A>G, NM_001322066.1:c.580A>G, NM_001322075.2:c.580A>G, NM_001322075.1:c.580A>G, NM_001322062.2:c.580A>G, NM_001322062.1:c.739A>G, NM_001322073.2:c.580A>G, NM_001322073.1:c.580A>G, NM_001322067.2:c.580A>G, NM_001322067.1:c.580A>G, NM_001322070.2:c.580A>G, NM_001322070.1:c.580A>G, NM_001322076.2:c.580A>G, NM_001322076.1:c.580A>G, NM_001322069.1:c.580A>G, NM_001387859.1:c.580A>G, NM_001387853.1:c.580A>G, NM_001387856.1:c.580A>G, NM_001387855.1:c.580A>G, NM_001387857.1:c.580A>G, NM_001387854.1:c.580A>G, NM_001387858.1:c.580A>G, NP_001308990.2:p.Arg194Gly, NP_077279.1:p.Arg194Gly, NP_001309001.1:p.Arg194Gly, NP_001308993.1:p.Arg194Gly, NP_001308994.1:p.Arg194Gly, NP_001309006.1:p.Arg77Gly, NP_001309007.1:p.Arg64Gly, NP_001309003.1:p.Arg194Gly, NP_001308997.1:p.Arg194Gly, NP_001308995.1:p.Arg194Gly, NP_001309004.1:p.Arg194Gly, NP_001308991.2:p.Arg194Gly, NP_001309002.1:p.Arg194Gly, NP_001308996.1:p.Arg194Gly, NP_001308999.1:p.Arg194Gly, NP_001309005.1:p.Arg194Gly, NP_001374788.1:p.Arg194Gly, NP_001374782.1:p.Arg194Gly, NP_001374785.1:p.Arg194Gly, NP_001374784.1:p.Arg194Gly, NP_001374786.1:p.Arg194Gly, NP_001374783.1:p.Arg194Gly, NP_001374787.1:p.Arg194Gly

          5.

          rs1470525817 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            19:56221707 (GRCh38)
            19:56733076 (GRCh37)
            Canonical SPDI:
            NC_000019.10:56221706:C:G,NC_000019.10:56221706:C:T
            Gene:
            ZSCAN5A (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000031/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000019.10:g.56221707C>G, NC_000019.10:g.56221707C>T, NC_000019.9:g.56733076C>G, NC_000019.9:g.56733076C>T, NM_001322061.4:c.1356G>C, NM_001322061.4:c.1356G>A, NM_001322061.3:c.1356G>C, NM_001322061.3:c.1356G>A, NM_001322061.2:c.1515G>C, NM_001322061.2:c.1515G>A, NM_001322061.1:c.1515G>C, NM_001322061.1:c.1515G>A, NM_024303.4:c.1359G>C, NM_024303.4:c.1359G>A, NM_024303.3:c.1359G>C, NM_024303.3:c.1359G>A, NM_024303.2:c.1359G>C, NM_024303.2:c.1359G>A, NM_024303.1:c.1359G>C, NM_024303.1:c.1359G>A, NM_001322072.3:c.1359G>C, NM_001322072.3:c.1359G>A, NM_001322072.2:c.1359G>C, NM_001322072.2:c.1359G>A, NM_001322072.1:c.1359G>C, NM_001322072.1:c.1359G>A, NM_001322064.3:c.1359G>C, NM_001322064.3:c.1359G>A, NM_001322064.2:c.1359G>C, NM_001322064.2:c.1359G>A, NM_001322064.1:c.1359G>C, NM_001322064.1:c.1359G>A, NM_001322065.3:c.1359G>C, NM_001322065.3:c.1359G>A, NM_001322065.2:c.1359G>C, NM_001322065.2:c.1359G>A, NM_001322065.1:c.1359G>C, NM_001322065.1:c.1359G>A, NM_001322077.3:c.1008G>C, NM_001322077.3:c.1008G>A, NM_001322077.2:c.1008G>C, NM_001322077.2:c.1008G>A, NM_001322077.1:c.1008G>C, NM_001322077.1:c.1008G>A, NM_001322078.3:c.969G>C, NM_001322078.3:c.969G>A, NM_001322078.2:c.969G>C, NM_001322078.2:c.969G>A, NM_001322078.1:c.969G>C, NM_001322078.1:c.969G>A, NM_001322074.2:c.1356G>C, NM_001322074.2:c.1356G>A, NM_001322074.1:c.1356G>C, NM_001322074.1:c.1356G>A, NM_001322068.2:c.1359G>C, NM_001322068.2:c.1359G>A, NM_001322068.1:c.1359G>C, NM_001322068.1:c.1359G>A, NM_001322066.2:c.1359G>C, NM_001322066.2:c.1359G>A, NM_001322066.1:c.1359G>C, NM_001322066.1:c.1359G>A, NM_001322075.2:c.1356G>C, NM_001322075.2:c.1356G>A, NM_001322075.1:c.1356G>C, NM_001322075.1:c.1356G>A, NM_001322062.2:c.1356G>C, NM_001322062.2:c.1356G>A, NM_001322062.1:c.1515G>C, NM_001322062.1:c.1515G>A, NM_001322073.2:c.1356G>C, NM_001322073.2:c.1356G>A, NM_001322073.1:c.1356G>C, NM_001322073.1:c.1356G>A, NM_001322067.2:c.1359G>C, NM_001322067.2:c.1359G>A, NM_001322067.1:c.1359G>C, NM_001322067.1:c.1359G>A, NM_001322070.2:c.1359G>C, NM_001322070.2:c.1359G>A, NM_001322070.1:c.1359G>C, NM_001322070.1:c.1359G>A, NM_001322076.2:c.1356G>C, NM_001322076.2:c.1356G>A, NM_001322076.1:c.1356G>C, NM_001322076.1:c.1356G>A, NM_001322069.1:c.1359G>C, NM_001322069.1:c.1359G>A, NM_001387859.1:c.1359G>C, NM_001387859.1:c.1359G>A, NM_001387853.1:c.1359G>C, NM_001387853.1:c.1359G>A, NM_001387856.1:c.1356G>C, NM_001387856.1:c.1356G>A, NM_001387855.1:c.1356G>C, NM_001387855.1:c.1356G>A, NM_001387857.1:c.1359G>C, NM_001387857.1:c.1359G>A, NM_001387854.1:c.1356G>C, NM_001387854.1:c.1356G>A, NM_001387858.1:c.1356G>C, NM_001387858.1:c.1356G>A

            6.

            rs1469122932 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:56223780 (GRCh38)
              19:56735149 (GRCh37)
              Canonical SPDI:
              NC_000019.10:56223779:T:C
              Gene:
              ZSCAN5A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000045/2 (ALFA)
              C=0.000012/3 (GnomAD_exomes)
              C=0.000019/5 (TOPMED)
              C=0.000029/4 (GnomAD)
              HGVS:
              NC_000019.10:g.56223780T>C, NC_000019.9:g.56735149T>C, NM_001322061.4:c.439A>G, NM_001322061.3:c.439A>G, NM_001322061.2:c.598A>G, NM_001322061.1:c.598A>G, NM_024303.4:c.439A>G, NM_024303.3:c.439A>G, NM_024303.2:c.439A>G, NM_024303.1:c.439A>G, NM_001322072.3:c.439A>G, NM_001322072.2:c.439A>G, NM_001322072.1:c.439A>G, NM_001322064.3:c.439A>G, NM_001322064.2:c.439A>G, NM_001322064.1:c.439A>G, NM_001322065.3:c.439A>G, NM_001322065.2:c.439A>G, NM_001322065.1:c.439A>G, NM_001322077.3:c.88A>G, NM_001322077.2:c.88A>G, NM_001322077.1:c.88A>G, NM_001322078.3:c.49A>G, NM_001322078.2:c.49A>G, NM_001322078.1:c.49A>G, NM_001322074.2:c.439A>G, NM_001322074.1:c.439A>G, NM_001322068.2:c.439A>G, NM_001322068.1:c.439A>G, NM_001322066.2:c.439A>G, NM_001322066.1:c.439A>G, NM_001322075.2:c.439A>G, NM_001322075.1:c.439A>G, NM_001322062.2:c.439A>G, NM_001322062.1:c.598A>G, NM_001322073.2:c.439A>G, NM_001322073.1:c.439A>G, NM_001322067.2:c.439A>G, NM_001322067.1:c.439A>G, NM_001322070.2:c.439A>G, NM_001322070.1:c.439A>G, NM_001322076.2:c.439A>G, NM_001322076.1:c.439A>G, NM_001322069.1:c.439A>G, NM_001387859.1:c.439A>G, NM_001387853.1:c.439A>G, NM_001387856.1:c.439A>G, NM_001387855.1:c.439A>G, NM_001387857.1:c.439A>G, NM_001387854.1:c.439A>G, NM_001387858.1:c.439A>G, NP_001308990.2:p.Met147Val, NP_077279.1:p.Met147Val, NP_001309001.1:p.Met147Val, NP_001308993.1:p.Met147Val, NP_001308994.1:p.Met147Val, NP_001309006.1:p.Met30Val, NP_001309007.1:p.Met17Val, NP_001309003.1:p.Met147Val, NP_001308997.1:p.Met147Val, NP_001308995.1:p.Met147Val, NP_001309004.1:p.Met147Val, NP_001308991.2:p.Met147Val, NP_001309002.1:p.Met147Val, NP_001308996.1:p.Met147Val, NP_001308999.1:p.Met147Val, NP_001309005.1:p.Met147Val, NP_001374788.1:p.Met147Val, NP_001374782.1:p.Met147Val, NP_001374785.1:p.Met147Val, NP_001374784.1:p.Met147Val, NP_001374786.1:p.Met147Val, NP_001374783.1:p.Met147Val, NP_001374787.1:p.Met147Val

              7.

              rs1464708925 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:56222606 (GRCh38)
                19:56733975 (GRCh37)
                Canonical SPDI:
                NC_000019.10:56222605:G:A
                Gene:
                ZSCAN5A (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000019.10:g.56222606G>A, NC_000019.9:g.56733975G>A, NM_001322061.4:c.724C>T, NM_001322061.3:c.724C>T, NM_001322061.2:c.883C>T, NM_001322061.1:c.883C>T, NM_024303.4:c.724C>T, NM_024303.3:c.724C>T, NM_024303.2:c.724C>T, NM_024303.1:c.724C>T, NM_001322072.3:c.724C>T, NM_001322072.2:c.724C>T, NM_001322072.1:c.724C>T, NM_001322064.3:c.724C>T, NM_001322064.2:c.724C>T, NM_001322064.1:c.724C>T, NM_001322065.3:c.724C>T, NM_001322065.2:c.724C>T, NM_001322065.1:c.724C>T, NM_001322077.3:c.373C>T, NM_001322077.2:c.373C>T, NM_001322077.1:c.373C>T, NM_001322078.3:c.334C>T, NM_001322078.2:c.334C>T, NM_001322078.1:c.334C>T, NM_001322074.2:c.724C>T, NM_001322074.1:c.724C>T, NM_001322068.2:c.724C>T, NM_001322068.1:c.724C>T, NM_001322066.2:c.724C>T, NM_001322066.1:c.724C>T, NM_001322075.2:c.724C>T, NM_001322075.1:c.724C>T, NM_001322062.2:c.724C>T, NM_001322062.1:c.883C>T, NM_001322073.2:c.724C>T, NM_001322073.1:c.724C>T, NM_001322067.2:c.724C>T, NM_001322067.1:c.724C>T, NM_001322070.2:c.724C>T, NM_001322070.1:c.724C>T, NM_001322076.2:c.724C>T, NM_001322076.1:c.724C>T, NM_001322069.1:c.724C>T, NM_001387859.1:c.724C>T, NM_001387853.1:c.724C>T, NM_001387856.1:c.724C>T, NM_001387855.1:c.724C>T, NM_001387857.1:c.724C>T, NM_001387854.1:c.724C>T, NM_001387858.1:c.724C>T, NP_001308990.2:p.Leu242Phe, NP_077279.1:p.Leu242Phe, NP_001309001.1:p.Leu242Phe, NP_001308993.1:p.Leu242Phe, NP_001308994.1:p.Leu242Phe, NP_001309006.1:p.Leu125Phe, NP_001309007.1:p.Leu112Phe, NP_001309003.1:p.Leu242Phe, NP_001308997.1:p.Leu242Phe, NP_001308995.1:p.Leu242Phe, NP_001309004.1:p.Leu242Phe, NP_001308991.2:p.Leu242Phe, NP_001309002.1:p.Leu242Phe, NP_001308996.1:p.Leu242Phe, NP_001308999.1:p.Leu242Phe, NP_001309005.1:p.Leu242Phe, NP_001374788.1:p.Leu242Phe, NP_001374782.1:p.Leu242Phe, NP_001374785.1:p.Leu242Phe, NP_001374784.1:p.Leu242Phe, NP_001374786.1:p.Leu242Phe, NP_001374783.1:p.Leu242Phe, NP_001374787.1:p.Leu242Phe

                8.

                rs1463923285 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  19:56223814 (GRCh38)
                  19:56735183 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:56223813:T:G
                  Gene:
                  ZSCAN5A (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0./0 (KOREAN)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.56223814T>G, NC_000019.9:g.56735183T>G, NM_001322061.4:c.405A>C, NM_001322061.3:c.405A>C, NM_001322061.2:c.564A>C, NM_001322061.1:c.564A>C, NM_024303.4:c.405A>C, NM_024303.3:c.405A>C, NM_024303.2:c.405A>C, NM_024303.1:c.405A>C, NM_001322072.3:c.405A>C, NM_001322072.2:c.405A>C, NM_001322072.1:c.405A>C, NM_001322064.3:c.405A>C, NM_001322064.2:c.405A>C, NM_001322064.1:c.405A>C, NM_001322065.3:c.405A>C, NM_001322065.2:c.405A>C, NM_001322065.1:c.405A>C, NM_001322077.3:c.54A>C, NM_001322077.2:c.54A>C, NM_001322077.1:c.54A>C, NM_001322074.2:c.405A>C, NM_001322074.1:c.405A>C, NM_001322068.2:c.405A>C, NM_001322068.1:c.405A>C, NM_001322066.2:c.405A>C, NM_001322066.1:c.405A>C, NM_001322075.2:c.405A>C, NM_001322075.1:c.405A>C, NM_001322062.2:c.405A>C, NM_001322062.1:c.564A>C, NM_001322073.2:c.405A>C, NM_001322073.1:c.405A>C, NM_001322067.2:c.405A>C, NM_001322067.1:c.405A>C, NM_001322070.2:c.405A>C, NM_001322070.1:c.405A>C, NM_001322076.2:c.405A>C, NM_001322076.1:c.405A>C, NM_001322069.1:c.405A>C, NM_001387859.1:c.405A>C, NM_001387853.1:c.405A>C, NM_001387856.1:c.405A>C, NM_001387855.1:c.405A>C, NM_001387857.1:c.405A>C, NM_001387854.1:c.405A>C, NM_001387858.1:c.405A>C

                  9.

                  rs1463840782 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:56222622 (GRCh38)
                    19:56733991 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:56222621:T:C
                    Gene:
                    ZSCAN5A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000019.10:g.56222622T>C, NC_000019.9:g.56733991T>C, NM_001322061.4:c.708A>G, NM_001322061.3:c.708A>G, NM_001322061.2:c.867A>G, NM_001322061.1:c.867A>G, NM_024303.4:c.708A>G, NM_024303.3:c.708A>G, NM_024303.2:c.708A>G, NM_024303.1:c.708A>G, NM_001322072.3:c.708A>G, NM_001322072.2:c.708A>G, NM_001322072.1:c.708A>G, NM_001322064.3:c.708A>G, NM_001322064.2:c.708A>G, NM_001322064.1:c.708A>G, NM_001322065.3:c.708A>G, NM_001322065.2:c.708A>G, NM_001322065.1:c.708A>G, NM_001322077.3:c.357A>G, NM_001322077.2:c.357A>G, NM_001322077.1:c.357A>G, NM_001322078.3:c.318A>G, NM_001322078.2:c.318A>G, NM_001322078.1:c.318A>G, NM_001322074.2:c.708A>G, NM_001322074.1:c.708A>G, NM_001322068.2:c.708A>G, NM_001322068.1:c.708A>G, NM_001322066.2:c.708A>G, NM_001322066.1:c.708A>G, NM_001322075.2:c.708A>G, NM_001322075.1:c.708A>G, NM_001322062.2:c.708A>G, NM_001322062.1:c.867A>G, NM_001322073.2:c.708A>G, NM_001322073.1:c.708A>G, NM_001322067.2:c.708A>G, NM_001322067.1:c.708A>G, NM_001322070.2:c.708A>G, NM_001322070.1:c.708A>G, NM_001322076.2:c.708A>G, NM_001322076.1:c.708A>G, NM_001322069.1:c.708A>G, NM_001387859.1:c.708A>G, NM_001387853.1:c.708A>G, NM_001387856.1:c.708A>G, NM_001387855.1:c.708A>G, NM_001387857.1:c.708A>G, NM_001387854.1:c.708A>G, NM_001387858.1:c.708A>G

                    10.

                    rs1462311947 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:56221912 (GRCh38)
                      19:56733281 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:56221911:T:C
                      Gene:
                      ZSCAN5A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000019.10:g.56221912T>C, NC_000019.9:g.56733281T>C, NM_001322061.4:c.1151A>G, NM_001322061.3:c.1151A>G, NM_001322061.2:c.1310A>G, NM_001322061.1:c.1310A>G, NM_024303.4:c.1154A>G, NM_024303.3:c.1154A>G, NM_024303.2:c.1154A>G, NM_024303.1:c.1154A>G, NM_001322072.3:c.1154A>G, NM_001322072.2:c.1154A>G, NM_001322072.1:c.1154A>G, NM_001322064.3:c.1154A>G, NM_001322064.2:c.1154A>G, NM_001322064.1:c.1154A>G, NM_001322065.3:c.1154A>G, NM_001322065.2:c.1154A>G, NM_001322065.1:c.1154A>G, NM_001322077.3:c.803A>G, NM_001322077.2:c.803A>G, NM_001322077.1:c.803A>G, NM_001322078.3:c.764A>G, NM_001322078.2:c.764A>G, NM_001322078.1:c.764A>G, NM_001322074.2:c.1151A>G, NM_001322074.1:c.1151A>G, NM_001322068.2:c.1154A>G, NM_001322068.1:c.1154A>G, NM_001322066.2:c.1154A>G, NM_001322066.1:c.1154A>G, NM_001322075.2:c.1151A>G, NM_001322075.1:c.1151A>G, NM_001322062.2:c.1151A>G, NM_001322062.1:c.1310A>G, NM_001322073.2:c.1151A>G, NM_001322073.1:c.1151A>G, NM_001322067.2:c.1154A>G, NM_001322067.1:c.1154A>G, NM_001322070.2:c.1154A>G, NM_001322070.1:c.1154A>G, NM_001322076.2:c.1151A>G, NM_001322076.1:c.1151A>G, NM_001322069.1:c.1154A>G, NM_001387859.1:c.1154A>G, NM_001387853.1:c.1154A>G, NM_001387856.1:c.1151A>G, NM_001387855.1:c.1151A>G, NM_001387857.1:c.1154A>G, NM_001387854.1:c.1151A>G, NM_001387858.1:c.1151A>G, NP_001308990.2:p.Gln384Arg, NP_077279.1:p.Gln385Arg, NP_001309001.1:p.Gln385Arg, NP_001308993.1:p.Gln385Arg, NP_001308994.1:p.Gln385Arg, NP_001309006.1:p.Gln268Arg, NP_001309007.1:p.Gln255Arg, NP_001309003.1:p.Gln384Arg, NP_001308997.1:p.Gln385Arg, NP_001308995.1:p.Gln385Arg, NP_001309004.1:p.Gln384Arg, NP_001308991.2:p.Gln384Arg, NP_001309002.1:p.Gln384Arg, NP_001308996.1:p.Gln385Arg, NP_001308999.1:p.Gln385Arg, NP_001309005.1:p.Gln384Arg, NP_001374788.1:p.Gln385Arg, NP_001374782.1:p.Gln385Arg, NP_001374785.1:p.Gln384Arg, NP_001374784.1:p.Gln384Arg, NP_001374786.1:p.Gln385Arg, NP_001374783.1:p.Gln384Arg, NP_001374787.1:p.Gln384Arg

                      11.

                      rs1461687779 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:56222097 (GRCh38)
                        19:56733466 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:56222096:T:C
                        Gene:
                        ZSCAN5A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.56222097T>C, NC_000019.9:g.56733466T>C, NM_001322061.4:c.966A>G, NM_001322061.3:c.966A>G, NM_001322061.2:c.1125A>G, NM_001322061.1:c.1125A>G, NM_024303.4:c.969A>G, NM_024303.3:c.969A>G, NM_024303.2:c.969A>G, NM_024303.1:c.969A>G, NM_001322072.3:c.969A>G, NM_001322072.2:c.969A>G, NM_001322072.1:c.969A>G, NM_001322064.3:c.969A>G, NM_001322064.2:c.969A>G, NM_001322064.1:c.969A>G, NM_001322065.3:c.969A>G, NM_001322065.2:c.969A>G, NM_001322065.1:c.969A>G, NM_001322077.3:c.618A>G, NM_001322077.2:c.618A>G, NM_001322077.1:c.618A>G, NM_001322078.3:c.579A>G, NM_001322078.2:c.579A>G, NM_001322078.1:c.579A>G, NM_001322074.2:c.966A>G, NM_001322074.1:c.966A>G, NM_001322068.2:c.969A>G, NM_001322068.1:c.969A>G, NM_001322066.2:c.969A>G, NM_001322066.1:c.969A>G, NM_001322075.2:c.966A>G, NM_001322075.1:c.966A>G, NM_001322062.2:c.966A>G, NM_001322062.1:c.1125A>G, NM_001322073.2:c.966A>G, NM_001322073.1:c.966A>G, NM_001322067.2:c.969A>G, NM_001322067.1:c.969A>G, NM_001322070.2:c.969A>G, NM_001322070.1:c.969A>G, NM_001322076.2:c.966A>G, NM_001322076.1:c.966A>G, NM_001322069.1:c.969A>G, NM_001387859.1:c.969A>G, NM_001387853.1:c.969A>G, NM_001387856.1:c.966A>G, NM_001387855.1:c.966A>G, NM_001387857.1:c.969A>G, NM_001387854.1:c.966A>G, NM_001387858.1:c.966A>G

                        12.

                        rs1461123353 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          19:56224875 (GRCh38)
                          19:56736244 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:56224874:G:C,NC_000019.10:56224874:G:T
                          Gene:
                          ZSCAN5A (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.56224875G>C, NC_000019.10:g.56224875G>T, NC_000019.9:g.56736244G>C, NC_000019.9:g.56736244G>T, NM_001322061.4:c.172C>G, NM_001322061.4:c.172C>A, NM_001322061.3:c.172C>G, NM_001322061.3:c.172C>A, NM_001322061.2:c.331C>G, NM_001322061.2:c.331C>A, NM_001322061.1:c.331C>G, NM_001322061.1:c.331C>A, NM_024303.4:c.172C>G, NM_024303.4:c.172C>A, NM_024303.3:c.172C>G, NM_024303.3:c.172C>A, NM_024303.2:c.172C>G, NM_024303.2:c.172C>A, NM_024303.1:c.172C>G, NM_024303.1:c.172C>A, NM_001322072.3:c.172C>G, NM_001322072.3:c.172C>A, NM_001322072.2:c.172C>G, NM_001322072.2:c.172C>A, NM_001322072.1:c.172C>G, NM_001322072.1:c.172C>A, NM_001322064.3:c.172C>G, NM_001322064.3:c.172C>A, NM_001322064.2:c.172C>G, NM_001322064.2:c.172C>A, NM_001322064.1:c.172C>G, NM_001322064.1:c.172C>A, NM_001322065.3:c.172C>G, NM_001322065.3:c.172C>A, NM_001322065.2:c.172C>G, NM_001322065.2:c.172C>A, NM_001322065.1:c.172C>G, NM_001322065.1:c.172C>A, NM_001322074.2:c.172C>G, NM_001322074.2:c.172C>A, NM_001322074.1:c.172C>G, NM_001322074.1:c.172C>A, NM_001322068.2:c.172C>G, NM_001322068.2:c.172C>A, NM_001322068.1:c.172C>G, NM_001322068.1:c.172C>A, NM_001322066.2:c.172C>G, NM_001322066.2:c.172C>A, NM_001322066.1:c.172C>G, NM_001322066.1:c.172C>A, NM_001322075.2:c.172C>G, NM_001322075.2:c.172C>A, NM_001322075.1:c.172C>G, NM_001322075.1:c.172C>A, NM_001322062.2:c.172C>G, NM_001322062.2:c.172C>A, NM_001322062.1:c.331C>G, NM_001322062.1:c.331C>A, NM_001322073.2:c.172C>G, NM_001322073.2:c.172C>A, NM_001322073.1:c.172C>G, NM_001322073.1:c.172C>A, NM_001322067.2:c.172C>G, NM_001322067.2:c.172C>A, NM_001322067.1:c.172C>G, NM_001322067.1:c.172C>A, NM_001322070.2:c.172C>G, NM_001322070.2:c.172C>A, NM_001322070.1:c.172C>G, NM_001322070.1:c.172C>A, NM_001322076.2:c.172C>G, NM_001322076.2:c.172C>A, NM_001322076.1:c.172C>G, NM_001322076.1:c.172C>A, NM_001322069.1:c.172C>G, NM_001322069.1:c.172C>A, NM_001387859.1:c.172C>G, NM_001387859.1:c.172C>A, NM_001387853.1:c.172C>G, NM_001387853.1:c.172C>A, NM_001387856.1:c.172C>G, NM_001387856.1:c.172C>A, NM_001387855.1:c.172C>G, NM_001387855.1:c.172C>A, NM_001387857.1:c.172C>G, NM_001387857.1:c.172C>A, NM_001387854.1:c.172C>G, NM_001387854.1:c.172C>A, NM_001387858.1:c.172C>G, NM_001387858.1:c.172C>A, NP_001308990.2:p.Pro58Ala, NP_001308990.2:p.Pro58Thr, NP_077279.1:p.Pro58Ala, NP_077279.1:p.Pro58Thr, NP_001309001.1:p.Pro58Ala, NP_001309001.1:p.Pro58Thr, NP_001308993.1:p.Pro58Ala, NP_001308993.1:p.Pro58Thr, NP_001308994.1:p.Pro58Ala, NP_001308994.1:p.Pro58Thr, NP_001309003.1:p.Pro58Ala, NP_001309003.1:p.Pro58Thr, NP_001308997.1:p.Pro58Ala, NP_001308997.1:p.Pro58Thr, NP_001308995.1:p.Pro58Ala, NP_001308995.1:p.Pro58Thr, NP_001309004.1:p.Pro58Ala, NP_001309004.1:p.Pro58Thr, NP_001308991.2:p.Pro58Ala, NP_001308991.2:p.Pro58Thr, NP_001309002.1:p.Pro58Ala, NP_001309002.1:p.Pro58Thr, NP_001308996.1:p.Pro58Ala, NP_001308996.1:p.Pro58Thr, NP_001308999.1:p.Pro58Ala, NP_001308999.1:p.Pro58Thr, NP_001309005.1:p.Pro58Ala, NP_001309005.1:p.Pro58Thr, NP_001374788.1:p.Pro58Ala, NP_001374788.1:p.Pro58Thr, NP_001374782.1:p.Pro58Ala, NP_001374782.1:p.Pro58Thr, NP_001374785.1:p.Pro58Ala, NP_001374785.1:p.Pro58Thr, NP_001374784.1:p.Pro58Ala, NP_001374784.1:p.Pro58Thr, NP_001374786.1:p.Pro58Ala, NP_001374786.1:p.Pro58Thr, NP_001374783.1:p.Pro58Ala, NP_001374783.1:p.Pro58Thr, NP_001374787.1:p.Pro58Ala, NP_001374787.1:p.Pro58Thr

                          13.

                          rs1457842727 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:56222655 (GRCh38)
                            19:56734024 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:56222654:C:T
                            Gene:
                            ZSCAN5A (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)
                            HGVS:
                            NC_000019.10:g.56222655C>T, NC_000019.9:g.56734024C>T, NM_001322061.4:c.675G>A, NM_001322061.3:c.675G>A, NM_001322061.2:c.834G>A, NM_001322061.1:c.834G>A, NM_024303.4:c.675G>A, NM_024303.3:c.675G>A, NM_024303.2:c.675G>A, NM_024303.1:c.675G>A, NM_001322072.3:c.675G>A, NM_001322072.2:c.675G>A, NM_001322072.1:c.675G>A, NM_001322064.3:c.675G>A, NM_001322064.2:c.675G>A, NM_001322064.1:c.675G>A, NM_001322065.3:c.675G>A, NM_001322065.2:c.675G>A, NM_001322065.1:c.675G>A, NM_001322077.3:c.324G>A, NM_001322077.2:c.324G>A, NM_001322077.1:c.324G>A, NM_001322078.3:c.285G>A, NM_001322078.2:c.285G>A, NM_001322078.1:c.285G>A, NM_001322074.2:c.675G>A, NM_001322074.1:c.675G>A, NM_001322068.2:c.675G>A, NM_001322068.1:c.675G>A, NM_001322066.2:c.675G>A, NM_001322066.1:c.675G>A, NM_001322075.2:c.675G>A, NM_001322075.1:c.675G>A, NM_001322062.2:c.675G>A, NM_001322062.1:c.834G>A, NM_001322073.2:c.675G>A, NM_001322073.1:c.675G>A, NM_001322067.2:c.675G>A, NM_001322067.1:c.675G>A, NM_001322070.2:c.675G>A, NM_001322070.1:c.675G>A, NM_001322076.2:c.675G>A, NM_001322076.1:c.675G>A, NM_001322069.1:c.675G>A, NM_001387859.1:c.675G>A, NM_001387853.1:c.675G>A, NM_001387856.1:c.675G>A, NM_001387855.1:c.675G>A, NM_001387857.1:c.675G>A, NM_001387854.1:c.675G>A, NM_001387858.1:c.675G>A

                            14.

                            rs1457835463 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:56222111 (GRCh38)
                              19:56733480 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:56222110:C:T
                              Gene:
                              ZSCAN5A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000019.10:g.56222111C>T, NC_000019.9:g.56733480C>T, NM_001322061.4:c.952G>A, NM_001322061.3:c.952G>A, NM_001322061.2:c.1111G>A, NM_001322061.1:c.1111G>A, NM_024303.4:c.955G>A, NM_024303.3:c.955G>A, NM_024303.2:c.955G>A, NM_024303.1:c.955G>A, NM_001322072.3:c.955G>A, NM_001322072.2:c.955G>A, NM_001322072.1:c.955G>A, NM_001322064.3:c.955G>A, NM_001322064.2:c.955G>A, NM_001322064.1:c.955G>A, NM_001322065.3:c.955G>A, NM_001322065.2:c.955G>A, NM_001322065.1:c.955G>A, NM_001322077.3:c.604G>A, NM_001322077.2:c.604G>A, NM_001322077.1:c.604G>A, NM_001322078.3:c.565G>A, NM_001322078.2:c.565G>A, NM_001322078.1:c.565G>A, NM_001322074.2:c.952G>A, NM_001322074.1:c.952G>A, NM_001322068.2:c.955G>A, NM_001322068.1:c.955G>A, NM_001322066.2:c.955G>A, NM_001322066.1:c.955G>A, NM_001322075.2:c.952G>A, NM_001322075.1:c.952G>A, NM_001322062.2:c.952G>A, NM_001322062.1:c.1111G>A, NM_001322073.2:c.952G>A, NM_001322073.1:c.952G>A, NM_001322067.2:c.955G>A, NM_001322067.1:c.955G>A, NM_001322070.2:c.955G>A, NM_001322070.1:c.955G>A, NM_001322076.2:c.952G>A, NM_001322076.1:c.952G>A, NM_001322069.1:c.955G>A, NM_001387859.1:c.955G>A, NM_001387853.1:c.955G>A, NM_001387856.1:c.952G>A, NM_001387855.1:c.952G>A, NM_001387857.1:c.955G>A, NM_001387854.1:c.952G>A, NM_001387858.1:c.952G>A, NP_001308990.2:p.Val318Met, NP_077279.1:p.Val319Met, NP_001309001.1:p.Val319Met, NP_001308993.1:p.Val319Met, NP_001308994.1:p.Val319Met, NP_001309006.1:p.Val202Met, NP_001309007.1:p.Val189Met, NP_001309003.1:p.Val318Met, NP_001308997.1:p.Val319Met, NP_001308995.1:p.Val319Met, NP_001309004.1:p.Val318Met, NP_001308991.2:p.Val318Met, NP_001309002.1:p.Val318Met, NP_001308996.1:p.Val319Met, NP_001308999.1:p.Val319Met, NP_001309005.1:p.Val318Met, NP_001374788.1:p.Val319Met, NP_001374782.1:p.Val319Met, NP_001374785.1:p.Val318Met, NP_001374784.1:p.Val318Met, NP_001374786.1:p.Val319Met, NP_001374783.1:p.Val318Met, NP_001374787.1:p.Val318Met

                              15.

                              rs1456998392 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:56222716 (GRCh38)
                                19:56734085 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:56222715:C:T
                                Gene:
                                ZSCAN5A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000019.10:g.56222716C>T, NC_000019.9:g.56734085C>T, NM_001322061.4:c.614G>A, NM_001322061.3:c.614G>A, NM_001322061.2:c.773G>A, NM_001322061.1:c.773G>A, NM_024303.4:c.614G>A, NM_024303.3:c.614G>A, NM_024303.2:c.614G>A, NM_024303.1:c.614G>A, NM_001322072.3:c.614G>A, NM_001322072.2:c.614G>A, NM_001322072.1:c.614G>A, NM_001322064.3:c.614G>A, NM_001322064.2:c.614G>A, NM_001322064.1:c.614G>A, NM_001322065.3:c.614G>A, NM_001322065.2:c.614G>A, NM_001322065.1:c.614G>A, NM_001322077.3:c.263G>A, NM_001322077.2:c.263G>A, NM_001322077.1:c.263G>A, NM_001322078.3:c.224G>A, NM_001322078.2:c.224G>A, NM_001322078.1:c.224G>A, NM_001322074.2:c.614G>A, NM_001322074.1:c.614G>A, NM_001322068.2:c.614G>A, NM_001322068.1:c.614G>A, NM_001322066.2:c.614G>A, NM_001322066.1:c.614G>A, NM_001322075.2:c.614G>A, NM_001322075.1:c.614G>A, NM_001322062.2:c.614G>A, NM_001322062.1:c.773G>A, NM_001322073.2:c.614G>A, NM_001322073.1:c.614G>A, NM_001322067.2:c.614G>A, NM_001322067.1:c.614G>A, NM_001322070.2:c.614G>A, NM_001322070.1:c.614G>A, NM_001322076.2:c.614G>A, NM_001322076.1:c.614G>A, NM_001322069.1:c.614G>A, NM_001387859.1:c.614G>A, NM_001387853.1:c.614G>A, NM_001387856.1:c.614G>A, NM_001387855.1:c.614G>A, NM_001387857.1:c.614G>A, NM_001387854.1:c.614G>A, NM_001387858.1:c.614G>A, NP_001308990.2:p.Ser205Asn, NP_077279.1:p.Ser205Asn, NP_001309001.1:p.Ser205Asn, NP_001308993.1:p.Ser205Asn, NP_001308994.1:p.Ser205Asn, NP_001309006.1:p.Ser88Asn, NP_001309007.1:p.Ser75Asn, NP_001309003.1:p.Ser205Asn, NP_001308997.1:p.Ser205Asn, NP_001308995.1:p.Ser205Asn, NP_001309004.1:p.Ser205Asn, NP_001308991.2:p.Ser205Asn, NP_001309002.1:p.Ser205Asn, NP_001308996.1:p.Ser205Asn, NP_001308999.1:p.Ser205Asn, NP_001309005.1:p.Ser205Asn, NP_001374788.1:p.Ser205Asn, NP_001374782.1:p.Ser205Asn, NP_001374785.1:p.Ser205Asn, NP_001374784.1:p.Ser205Asn, NP_001374786.1:p.Ser205Asn, NP_001374783.1:p.Ser205Asn, NP_001374787.1:p.Ser205Asn

                                16.

                                rs1449167317 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  19:56222301 (GRCh38)
                                  19:56733670 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:56222300:C:A
                                  Gene:
                                  ZSCAN5A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000019.10:g.56222301C>A, NC_000019.9:g.56733670C>A, NM_001322061.4:c.762G>T, NM_001322061.3:c.762G>T, NM_001322061.2:c.921G>T, NM_001322061.1:c.921G>T, NM_024303.4:c.765G>T, NM_024303.3:c.765G>T, NM_024303.2:c.765G>T, NM_024303.1:c.765G>T, NM_001322072.3:c.765G>T, NM_001322072.2:c.765G>T, NM_001322072.1:c.765G>T, NM_001322064.3:c.765G>T, NM_001322064.2:c.765G>T, NM_001322064.1:c.765G>T, NM_001322065.3:c.765G>T, NM_001322065.2:c.765G>T, NM_001322065.1:c.765G>T, NM_001322077.3:c.414G>T, NM_001322077.2:c.414G>T, NM_001322077.1:c.414G>T, NM_001322078.3:c.375G>T, NM_001322078.2:c.375G>T, NM_001322078.1:c.375G>T, NM_001322074.2:c.762G>T, NM_001322074.1:c.762G>T, NM_001322068.2:c.765G>T, NM_001322068.1:c.765G>T, NM_001322066.2:c.765G>T, NM_001322066.1:c.765G>T, NM_001322075.2:c.762G>T, NM_001322075.1:c.762G>T, NM_001322062.2:c.762G>T, NM_001322062.1:c.921G>T, NM_001322073.2:c.762G>T, NM_001322073.1:c.762G>T, NM_001322067.2:c.765G>T, NM_001322067.1:c.765G>T, NM_001322070.2:c.765G>T, NM_001322070.1:c.765G>T, NM_001322076.2:c.762G>T, NM_001322076.1:c.762G>T, NM_001322069.1:c.765G>T, NM_001387859.1:c.765G>T, NM_001387853.1:c.765G>T, NM_001387856.1:c.762G>T, NM_001387855.1:c.762G>T, NM_001387857.1:c.765G>T, NM_001387854.1:c.762G>T, NM_001387858.1:c.762G>T

                                  17.

                                  rs1447964428 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    19:56222062 (GRCh38)
                                    19:56733431 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:56222061:G:T
                                    Gene:
                                    ZSCAN5A (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_000019.10:g.56222062G>T, NC_000019.9:g.56733431G>T, NM_001322061.4:c.1001C>A, NM_001322061.3:c.1001C>A, NM_001322061.2:c.1160C>A, NM_001322061.1:c.1160C>A, NM_024303.4:c.1004C>A, NM_024303.3:c.1004C>A, NM_024303.2:c.1004C>A, NM_024303.1:c.1004C>A, NM_001322072.3:c.1004C>A, NM_001322072.2:c.1004C>A, NM_001322072.1:c.1004C>A, NM_001322064.3:c.1004C>A, NM_001322064.2:c.1004C>A, NM_001322064.1:c.1004C>A, NM_001322065.3:c.1004C>A, NM_001322065.2:c.1004C>A, NM_001322065.1:c.1004C>A, NM_001322077.3:c.653C>A, NM_001322077.2:c.653C>A, NM_001322077.1:c.653C>A, NM_001322078.3:c.614C>A, NM_001322078.2:c.614C>A, NM_001322078.1:c.614C>A, NM_001322074.2:c.1001C>A, NM_001322074.1:c.1001C>A, NM_001322068.2:c.1004C>A, NM_001322068.1:c.1004C>A, NM_001322066.2:c.1004C>A, NM_001322066.1:c.1004C>A, NM_001322075.2:c.1001C>A, NM_001322075.1:c.1001C>A, NM_001322062.2:c.1001C>A, NM_001322062.1:c.1160C>A, NM_001322073.2:c.1001C>A, NM_001322073.1:c.1001C>A, NM_001322067.2:c.1004C>A, NM_001322067.1:c.1004C>A, NM_001322070.2:c.1004C>A, NM_001322070.1:c.1004C>A, NM_001322076.2:c.1001C>A, NM_001322076.1:c.1001C>A, NM_001322069.1:c.1004C>A, NM_001387859.1:c.1004C>A, NM_001387853.1:c.1004C>A, NM_001387856.1:c.1001C>A, NM_001387855.1:c.1001C>A, NM_001387857.1:c.1004C>A, NM_001387854.1:c.1001C>A, NM_001387858.1:c.1001C>A, NP_001308990.2:p.Ser334Tyr, NP_077279.1:p.Ser335Tyr, NP_001309001.1:p.Ser335Tyr, NP_001308993.1:p.Ser335Tyr, NP_001308994.1:p.Ser335Tyr, NP_001309006.1:p.Ser218Tyr, NP_001309007.1:p.Ser205Tyr, NP_001309003.1:p.Ser334Tyr, NP_001308997.1:p.Ser335Tyr, NP_001308995.1:p.Ser335Tyr, NP_001309004.1:p.Ser334Tyr, NP_001308991.2:p.Ser334Tyr, NP_001309002.1:p.Ser334Tyr, NP_001308996.1:p.Ser335Tyr, NP_001308999.1:p.Ser335Tyr, NP_001309005.1:p.Ser334Tyr, NP_001374788.1:p.Ser335Tyr, NP_001374782.1:p.Ser335Tyr, NP_001374785.1:p.Ser334Tyr, NP_001374784.1:p.Ser334Tyr, NP_001374786.1:p.Ser335Tyr, NP_001374783.1:p.Ser334Tyr, NP_001374787.1:p.Ser334Tyr

                                    18.

                                    rs1441346322 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:56221629 (GRCh38)
                                      19:56732998 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:56221628:C:T
                                      Gene:
                                      ZSCAN5A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0./0 (GnomAD)
                                      T=0.000008/2 (GnomAD_exomes)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000019.10:g.56221629C>T, NC_000019.9:g.56732998C>T, NM_001322061.4:c.1434G>A, NM_001322061.3:c.1434G>A, NM_001322061.2:c.1593G>A, NM_001322061.1:c.1593G>A, NM_024303.4:c.1437G>A, NM_024303.3:c.1437G>A, NM_024303.2:c.1437G>A, NM_024303.1:c.1437G>A, NM_001322072.3:c.1437G>A, NM_001322072.2:c.1437G>A, NM_001322072.1:c.1437G>A, NM_001322064.3:c.1437G>A, NM_001322064.2:c.1437G>A, NM_001322064.1:c.1437G>A, NM_001322065.3:c.1437G>A, NM_001322065.2:c.1437G>A, NM_001322065.1:c.1437G>A, NM_001322077.3:c.1086G>A, NM_001322077.2:c.1086G>A, NM_001322077.1:c.1086G>A, NM_001322078.3:c.1047G>A, NM_001322078.2:c.1047G>A, NM_001322078.1:c.1047G>A, NM_001322074.2:c.1434G>A, NM_001322074.1:c.1434G>A, NM_001322068.2:c.1437G>A, NM_001322068.1:c.1437G>A, NM_001322066.2:c.1437G>A, NM_001322066.1:c.1437G>A, NM_001322075.2:c.1434G>A, NM_001322075.1:c.1434G>A, NM_001322062.2:c.1434G>A, NM_001322062.1:c.1593G>A, NM_001322073.2:c.1434G>A, NM_001322073.1:c.1434G>A, NM_001322067.2:c.1437G>A, NM_001322067.1:c.1437G>A, NM_001322070.2:c.1437G>A, NM_001322070.1:c.1437G>A, NM_001322076.2:c.1434G>A, NM_001322076.1:c.1434G>A, NM_001322069.1:c.1437G>A, NM_001387859.1:c.1437G>A, NM_001387853.1:c.1437G>A, NM_001387856.1:c.1434G>A, NM_001387855.1:c.1434G>A, NM_001387857.1:c.1437G>A, NM_001387854.1:c.1434G>A, NM_001387858.1:c.1434G>A

                                      19.

                                      rs1440957615 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:56222631 (GRCh38)
                                        19:56734000 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:56222630:T:C
                                        Gene:
                                        ZSCAN5A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000111/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.56222631T>C, NC_000019.9:g.56734000T>C, NM_001322061.4:c.699A>G, NM_001322061.3:c.699A>G, NM_001322061.2:c.858A>G, NM_001322061.1:c.858A>G, NM_024303.4:c.699A>G, NM_024303.3:c.699A>G, NM_024303.2:c.699A>G, NM_024303.1:c.699A>G, NM_001322072.3:c.699A>G, NM_001322072.2:c.699A>G, NM_001322072.1:c.699A>G, NM_001322064.3:c.699A>G, NM_001322064.2:c.699A>G, NM_001322064.1:c.699A>G, NM_001322065.3:c.699A>G, NM_001322065.2:c.699A>G, NM_001322065.1:c.699A>G, NM_001322077.3:c.348A>G, NM_001322077.2:c.348A>G, NM_001322077.1:c.348A>G, NM_001322078.3:c.309A>G, NM_001322078.2:c.309A>G, NM_001322078.1:c.309A>G, NM_001322074.2:c.699A>G, NM_001322074.1:c.699A>G, NM_001322068.2:c.699A>G, NM_001322068.1:c.699A>G, NM_001322066.2:c.699A>G, NM_001322066.1:c.699A>G, NM_001322075.2:c.699A>G, NM_001322075.1:c.699A>G, NM_001322062.2:c.699A>G, NM_001322062.1:c.858A>G, NM_001322073.2:c.699A>G, NM_001322073.1:c.699A>G, NM_001322067.2:c.699A>G, NM_001322067.1:c.699A>G, NM_001322070.2:c.699A>G, NM_001322070.1:c.699A>G, NM_001322076.2:c.699A>G, NM_001322076.1:c.699A>G, NM_001322069.1:c.699A>G, NM_001387859.1:c.699A>G, NM_001387853.1:c.699A>G, NM_001387856.1:c.699A>G, NM_001387855.1:c.699A>G, NM_001387857.1:c.699A>G, NM_001387854.1:c.699A>G, NM_001387858.1:c.699A>G

                                        20.

                                        rs1437172257 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          19:56221590 (GRCh38)
                                          19:56732959 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:56221589:T:G
                                          Gene:
                                          ZSCAN5A (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.56221590T>G, NC_000019.9:g.56732959T>G, NM_001322061.4:c.1473A>C, NM_001322061.3:c.1473A>C, NM_001322061.2:c.1632A>C, NM_001322061.1:c.1632A>C, NM_024303.4:c.1476A>C, NM_024303.3:c.1476A>C, NM_024303.2:c.1476A>C, NM_024303.1:c.1476A>C, NM_001322072.3:c.1476A>C, NM_001322072.2:c.1476A>C, NM_001322072.1:c.1476A>C, NM_001322064.3:c.1476A>C, NM_001322064.2:c.1476A>C, NM_001322064.1:c.1476A>C, NM_001322065.3:c.1476A>C, NM_001322065.2:c.1476A>C, NM_001322065.1:c.1476A>C, NM_001322077.3:c.1125A>C, NM_001322077.2:c.1125A>C, NM_001322077.1:c.1125A>C, NM_001322078.3:c.1086A>C, NM_001322078.2:c.1086A>C, NM_001322078.1:c.1086A>C, NM_001322074.2:c.1473A>C, NM_001322074.1:c.1473A>C, NM_001322068.2:c.1476A>C, NM_001322068.1:c.1476A>C, NM_001322066.2:c.1476A>C, NM_001322066.1:c.1476A>C, NM_001322075.2:c.1473A>C, NM_001322075.1:c.1473A>C, NM_001322062.2:c.1473A>C, NM_001322062.1:c.1632A>C, NM_001322073.2:c.1473A>C, NM_001322073.1:c.1473A>C, NM_001322067.2:c.1476A>C, NM_001322067.1:c.1476A>C, NM_001322070.2:c.1476A>C, NM_001322070.1:c.1476A>C, NM_001322076.2:c.1473A>C, NM_001322076.1:c.1473A>C, NM_001322069.1:c.1476A>C, NM_001387859.1:c.1476A>C, NM_001387853.1:c.1476A>C, NM_001387856.1:c.1473A>C, NM_001387855.1:c.1473A>C, NM_001387857.1:c.1476A>C, NM_001387854.1:c.1473A>C, NM_001387858.1:c.1473A>C, NP_001308990.2:p.Glu491Asp, NP_077279.1:p.Glu492Asp, NP_001309001.1:p.Glu492Asp, NP_001308993.1:p.Glu492Asp, NP_001308994.1:p.Glu492Asp, NP_001309006.1:p.Glu375Asp, NP_001309007.1:p.Glu362Asp, NP_001309003.1:p.Glu491Asp, NP_001308997.1:p.Glu492Asp, NP_001308995.1:p.Glu492Asp, NP_001309004.1:p.Glu491Asp, NP_001308991.2:p.Glu491Asp, NP_001309002.1:p.Glu491Asp, NP_001308996.1:p.Glu492Asp, NP_001308999.1:p.Glu492Asp, NP_001309005.1:p.Glu491Asp, NP_001374788.1:p.Glu492Asp, NP_001374782.1:p.Glu492Asp, NP_001374785.1:p.Glu491Asp, NP_001374784.1:p.Glu491Asp, NP_001374786.1:p.Glu492Asp, NP_001374783.1:p.Glu491Asp, NP_001374787.1:p.Glu491Asp

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...