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 646

1.

rs1487616271 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    14:88572899 (GRCh38)
    14:89039243 (GRCh37)
    Canonical SPDI:
    NC_000014.9:88572898:T:A
    Gene:
    ZC3H14 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000014.9:g.88572899T>A, NC_000014.8:g.89039243T>A, NG_050601.1:g.14991T>A, NM_024824.4:c.753T>A, NM_024824.5:c.753T>A, NM_207661.2:c.651T>A, NM_207661.3:c.651T>A, NM_001326316.1:c.651T>A, NM_001326316.2:c.651T>A, NM_207660.4:c.753T>A, NM_207660.3:c.753T>A, XM_011537162.4:c.753T>A, XM_011537162.3:c.753T>A, XM_011537162.2:c.753T>A, XM_011537162.1:c.753T>A, NM_001326297.2:c.651T>A, NM_001326297.1:c.651T>A, NM_001326315.2:c.651T>A, NM_001326315.1:c.651T>A, NM_001326301.2:c.651T>A, NM_001326301.1:c.651T>A, NM_001160103.2:c.753T>A, NM_001160103.1:c.753T>A, NM_001326310.2:c.753T>A, NM_001326310.1:c.753T>A, NM_001160104.2:c.753T>A, NM_001160104.1:c.753T>A, NM_001326307.2:c.753T>A, NM_001326307.1:c.753T>A, NM_001326296.2:c.753T>A, NM_001326296.1:c.753T>A, NM_001326312.2:c.753T>A, NM_001326312.1:c.753T>A, NM_001326299.2:c.753T>A, NM_001326299.1:c.753T>A, NM_001326300.2:c.288T>A, NM_001326300.1:c.288T>A, NM_001326302.2:c.288T>A, NM_001326302.1:c.288T>A, NR_136936.2:n.850T>A, NR_136936.1:n.978T>A, NM_001326305.2:c.288T>A, NM_001326305.1:c.288T>A, NM_001326314.2:c.288T>A, NM_001326314.1:c.288T>A, NM_001326303.2:c.651T>A, NM_001326303.1:c.651T>A, NM_001326295.2:c.753T>A, NM_001326295.1:c.753T>A, NM_001326298.2:c.753T>A, NM_001326298.1:c.753T>A, NM_001326308.2:c.288T>A, NM_001326308.1:c.288T>A, NM_001326304.2:c.288T>A, NM_001326304.1:c.288T>A, NM_001326309.2:c.288T>A, NM_001326309.1:c.288T>A, NM_001326311.2:c.288T>A, NM_001326311.1:c.288T>A, NM_001326313.2:c.753T>A, NM_001326313.1:c.753T>A, NM_001326306.2:c.753T>A, NM_001326306.1:c.753T>A, NP_079100.2:p.Ser251Arg, NP_997544.1:p.Ser217Arg, NP_001313245.1:p.Ser217Arg, NP_997543.1:p.Ser251Arg, XP_011535464.1:p.Ser251Arg, NP_001313226.1:p.Ser217Arg, NP_001313244.1:p.Ser217Arg, NP_001313230.1:p.Ser217Arg, NP_001153575.1:p.Ser251Arg, NP_001313239.1:p.Ser251Arg, NP_001153576.1:p.Ser251Arg, NP_001313236.1:p.Ser251Arg, NP_001313225.1:p.Ser251Arg, NP_001313241.1:p.Ser251Arg, NP_001313228.1:p.Ser251Arg, NP_001313229.1:p.Ser96Arg, NP_001313231.1:p.Ser96Arg, NP_001313234.1:p.Ser96Arg, NP_001313243.1:p.Ser96Arg, NP_001313232.1:p.Ser217Arg, NP_001313224.1:p.Ser251Arg, NP_001313227.1:p.Ser251Arg, NP_001313237.1:p.Ser96Arg, NP_001313233.1:p.Ser96Arg, NP_001313238.1:p.Ser96Arg, NP_001313240.1:p.Ser96Arg, NP_001313242.1:p.Ser251Arg, NP_001313235.1:p.Ser251Arg

    2.

    rs1487293579 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      14:88574787 (GRCh38)
      14:89041131 (GRCh37)
      Canonical SPDI:
      NC_000014.9:88574786:A:C,NC_000014.9:88574786:A:G
      Gene:
      ZC3H14 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
      HGVS:
      NC_000014.9:g.88574787A>C, NC_000014.9:g.88574787A>G, NC_000014.8:g.89041131A>C, NC_000014.8:g.89041131A>G, NG_050601.1:g.16879A>C, NG_050601.1:g.16879A>G, NM_024824.4:c.956A>C, NM_024824.4:c.956A>G, NM_024824.5:c.956A>C, NM_024824.5:c.956A>G, NM_207661.2:c.854A>C, NM_207661.2:c.854A>G, NM_207661.3:c.854A>C, NM_207661.3:c.854A>G, NM_001326316.1:c.854A>C, NM_001326316.1:c.854A>G, NM_001326316.2:c.854A>C, NM_001326316.2:c.854A>G, NM_207660.4:c.956A>C, NM_207660.4:c.956A>G, NM_207660.3:c.956A>C, NM_207660.3:c.956A>G, XM_011537162.4:c.956A>C, XM_011537162.4:c.956A>G, XM_011537162.3:c.956A>C, XM_011537162.3:c.956A>G, XM_011537162.2:c.956A>C, XM_011537162.2:c.956A>G, XM_011537162.1:c.956A>C, XM_011537162.1:c.956A>G, NM_001326297.2:c.854A>C, NM_001326297.2:c.854A>G, NM_001326297.1:c.854A>C, NM_001326297.1:c.854A>G, NM_001326315.2:c.854A>C, NM_001326315.2:c.854A>G, NM_001326315.1:c.854A>C, NM_001326315.1:c.854A>G, NM_001326301.2:c.854A>C, NM_001326301.2:c.854A>G, NM_001326301.1:c.854A>C, NM_001326301.1:c.854A>G, NM_001160103.2:c.956A>C, NM_001160103.2:c.956A>G, NM_001160103.1:c.956A>C, NM_001160103.1:c.956A>G, NM_001326310.2:c.956A>C, NM_001326310.2:c.956A>G, NM_001326310.1:c.956A>C, NM_001326310.1:c.956A>G, NM_001160104.2:c.956A>C, NM_001160104.2:c.956A>G, NM_001160104.1:c.956A>C, NM_001160104.1:c.956A>G, NM_001326307.2:c.956A>C, NM_001326307.2:c.956A>G, NM_001326307.1:c.956A>C, NM_001326307.1:c.956A>G, NM_001326296.2:c.956A>C, NM_001326296.2:c.956A>G, NM_001326296.1:c.956A>C, NM_001326296.1:c.956A>G, NM_001326312.2:c.956A>C, NM_001326312.2:c.956A>G, NM_001326312.1:c.956A>C, NM_001326312.1:c.956A>G, NM_001326299.2:c.956A>C, NM_001326299.2:c.956A>G, NM_001326299.1:c.956A>C, NM_001326299.1:c.956A>G, NM_001326300.2:c.491A>C, NM_001326300.2:c.491A>G, NM_001326300.1:c.491A>C, NM_001326300.1:c.491A>G, NM_001326302.2:c.491A>C, NM_001326302.2:c.491A>G, NM_001326302.1:c.491A>C, NM_001326302.1:c.491A>G, NR_136936.2:n.1053A>C, NR_136936.2:n.1053A>G, NR_136936.1:n.1181A>C, NR_136936.1:n.1181A>G, NM_001326305.2:c.491A>C, NM_001326305.2:c.491A>G, NM_001326305.1:c.491A>C, NM_001326305.1:c.491A>G, NM_001326314.2:c.491A>C, NM_001326314.2:c.491A>G, NM_001326314.1:c.491A>C, NM_001326314.1:c.491A>G, NM_001326303.2:c.854A>C, NM_001326303.2:c.854A>G, NM_001326303.1:c.854A>C, NM_001326303.1:c.854A>G, NM_001326295.2:c.956A>C, NM_001326295.2:c.956A>G, NM_001326295.1:c.956A>C, NM_001326295.1:c.956A>G, NM_001326298.2:c.956A>C, NM_001326298.2:c.956A>G, NM_001326298.1:c.956A>C, NM_001326298.1:c.956A>G, NM_001326308.2:c.491A>C, NM_001326308.2:c.491A>G, NM_001326308.1:c.491A>C, NM_001326308.1:c.491A>G, NM_001326304.2:c.491A>C, NM_001326304.2:c.491A>G, NM_001326304.1:c.491A>C, NM_001326304.1:c.491A>G, NM_001326309.2:c.491A>C, NM_001326309.2:c.491A>G, NM_001326309.1:c.491A>C, NM_001326309.1:c.491A>G, NM_001326311.2:c.491A>C, NM_001326311.2:c.491A>G, NM_001326311.1:c.491A>C, NM_001326311.1:c.491A>G, NM_001326313.2:c.956A>C, NM_001326313.2:c.956A>G, NM_001326313.1:c.956A>C, NM_001326313.1:c.956A>G, NM_001326306.2:c.956A>C, NM_001326306.2:c.956A>G, NM_001326306.1:c.956A>C, NM_001326306.1:c.956A>G, NP_079100.2:p.Asp319Ala, NP_079100.2:p.Asp319Gly, NP_997544.1:p.Asp285Ala, NP_997544.1:p.Asp285Gly, NP_001313245.1:p.Asp285Ala, NP_001313245.1:p.Asp285Gly, NP_997543.1:p.Asp319Ala, NP_997543.1:p.Asp319Gly, XP_011535464.1:p.Asp319Ala, XP_011535464.1:p.Asp319Gly, NP_001313226.1:p.Asp285Ala, NP_001313226.1:p.Asp285Gly, NP_001313244.1:p.Asp285Ala, NP_001313244.1:p.Asp285Gly, NP_001313230.1:p.Asp285Ala, NP_001313230.1:p.Asp285Gly, NP_001153575.1:p.Asp319Ala, NP_001153575.1:p.Asp319Gly, NP_001313239.1:p.Asp319Ala, NP_001313239.1:p.Asp319Gly, NP_001153576.1:p.Asp319Ala, NP_001153576.1:p.Asp319Gly, NP_001313236.1:p.Asp319Ala, NP_001313236.1:p.Asp319Gly, NP_001313225.1:p.Asp319Ala, NP_001313225.1:p.Asp319Gly, NP_001313241.1:p.Asp319Ala, NP_001313241.1:p.Asp319Gly, NP_001313228.1:p.Asp319Ala, NP_001313228.1:p.Asp319Gly, NP_001313229.1:p.Asp164Ala, NP_001313229.1:p.Asp164Gly, NP_001313231.1:p.Asp164Ala, NP_001313231.1:p.Asp164Gly, NP_001313234.1:p.Asp164Ala, NP_001313234.1:p.Asp164Gly, NP_001313243.1:p.Asp164Ala, NP_001313243.1:p.Asp164Gly, NP_001313232.1:p.Asp285Ala, NP_001313232.1:p.Asp285Gly, NP_001313224.1:p.Asp319Ala, NP_001313224.1:p.Asp319Gly, NP_001313227.1:p.Asp319Ala, NP_001313227.1:p.Asp319Gly, NP_001313237.1:p.Asp164Ala, NP_001313237.1:p.Asp164Gly, NP_001313233.1:p.Asp164Ala, NP_001313233.1:p.Asp164Gly, NP_001313238.1:p.Asp164Ala, NP_001313238.1:p.Asp164Gly, NP_001313240.1:p.Asp164Ala, NP_001313240.1:p.Asp164Gly, NP_001313242.1:p.Asp319Ala, NP_001313242.1:p.Asp319Gly, NP_001313235.1:p.Asp319Ala, NP_001313235.1:p.Asp319Gly

      3.

      rs1487056044 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:88578100 (GRCh38)
        14:89044444 (GRCh37)
        Canonical SPDI:
        NC_000014.9:88578099:A:G
        Gene:
        ZC3H14 (Varview)
        Functional Consequence:
        synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.88578100A>G, NC_000014.8:g.89044444A>G, NG_050601.1:g.20192A>G, NM_024824.4:c.1239A>G, NM_024824.5:c.1239A>G, NM_207661.2:c.1137A>G, NM_207661.3:c.1137A>G, NM_001326316.1:c.1137A>G, NM_001326316.2:c.1137A>G, NM_207660.4:c.1239A>G, NM_207660.3:c.1239A>G, XM_011537162.4:c.1239A>G, XM_011537162.3:c.1239A>G, XM_011537162.2:c.1239A>G, XM_011537162.1:c.1239A>G, NM_001326297.2:c.1137A>G, NM_001326297.1:c.1137A>G, NM_001326315.2:c.1137A>G, NM_001326315.1:c.1137A>G, NM_001326301.2:c.1137A>G, NM_001326301.1:c.1137A>G, NM_001160103.2:c.1239A>G, NM_001160103.1:c.1239A>G, NM_001326310.2:c.1239A>G, NM_001326310.1:c.1239A>G, NM_001160104.2:c.1239A>G, NM_001160104.1:c.1239A>G, NM_001326307.2:c.1239A>G, NM_001326307.1:c.1239A>G, NM_001326296.2:c.1239A>G, NM_001326296.1:c.1239A>G, NM_001326312.2:c.1239A>G, NM_001326312.1:c.1239A>G, NM_001326299.2:c.1239A>G, NM_001326299.1:c.1239A>G, NM_001326300.2:c.774A>G, NM_001326300.1:c.774A>G, NM_001326302.2:c.774A>G, NM_001326302.1:c.774A>G, NR_136936.2:n.1336A>G, NR_136936.1:n.1464A>G, NM_001326305.2:c.774A>G, NM_001326305.1:c.774A>G, NM_001326314.2:c.774A>G, NM_001326314.1:c.774A>G, NM_001326303.2:c.1137A>G, NM_001326303.1:c.1137A>G, NM_001326295.2:c.1239A>G, NM_001326295.1:c.1239A>G, NM_001326298.2:c.1239A>G, NM_001326298.1:c.1239A>G, NM_001326308.2:c.774A>G, NM_001326308.1:c.774A>G, NM_001326304.2:c.774A>G, NM_001326304.1:c.774A>G, NM_001326309.2:c.774A>G, NM_001326309.1:c.774A>G, NM_001326311.2:c.774A>G, NM_001326311.1:c.774A>G

        4.

        rs1486381370 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          14:88568136 (GRCh38)
          14:89034480 (GRCh37)
          Canonical SPDI:
          NC_000014.9:88568135:A:C,NC_000014.9:88568135:A:G
          Gene:
          ZC3H14 (Varview)
          Functional Consequence:
          synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000014.9:g.88568136A>C, NC_000014.9:g.88568136A>G, NC_000014.8:g.89034480A>C, NC_000014.8:g.89034480A>G, NG_050601.1:g.10228A>C, NG_050601.1:g.10228A>G, NM_024824.4:c.177A>C, NM_024824.4:c.177A>G, NM_024824.5:c.177A>C, NM_024824.5:c.177A>G, NM_207661.2:c.75A>C, NM_207661.2:c.75A>G, NM_207661.3:c.75A>C, NM_207661.3:c.75A>G, NM_001326316.1:c.75A>C, NM_001326316.1:c.75A>G, NM_001326316.2:c.75A>C, NM_001326316.2:c.75A>G, NM_207660.4:c.177A>C, NM_207660.4:c.177A>G, NM_207660.3:c.177A>C, NM_207660.3:c.177A>G, XM_011537162.4:c.177A>C, XM_011537162.4:c.177A>G, XM_011537162.3:c.177A>C, XM_011537162.3:c.177A>G, XM_011537162.2:c.177A>C, XM_011537162.2:c.177A>G, XM_011537162.1:c.177A>C, XM_011537162.1:c.177A>G, NM_001326297.2:c.75A>C, NM_001326297.2:c.75A>G, NM_001326297.1:c.75A>C, NM_001326297.1:c.75A>G, NM_001326315.2:c.75A>C, NM_001326315.2:c.75A>G, NM_001326315.1:c.75A>C, NM_001326315.1:c.75A>G, NM_001326301.2:c.75A>C, NM_001326301.2:c.75A>G, NM_001326301.1:c.75A>C, NM_001326301.1:c.75A>G, NM_001160103.2:c.177A>C, NM_001160103.2:c.177A>G, NM_001160103.1:c.177A>C, NM_001160103.1:c.177A>G, NM_001326310.2:c.177A>C, NM_001326310.2:c.177A>G, NM_001326310.1:c.177A>C, NM_001326310.1:c.177A>G, NM_001160104.2:c.177A>C, NM_001160104.2:c.177A>G, NM_001160104.1:c.177A>C, NM_001160104.1:c.177A>G, NM_001326307.2:c.177A>C, NM_001326307.2:c.177A>G, NM_001326307.1:c.177A>C, NM_001326307.1:c.177A>G, NM_001326296.2:c.177A>C, NM_001326296.2:c.177A>G, NM_001326296.1:c.177A>C, NM_001326296.1:c.177A>G, NM_001326312.2:c.177A>C, NM_001326312.2:c.177A>G, NM_001326312.1:c.177A>C, NM_001326312.1:c.177A>G, NM_001326299.2:c.177A>C, NM_001326299.2:c.177A>G, NM_001326299.1:c.177A>C, NM_001326299.1:c.177A>G, NR_136936.2:n.274A>C, NR_136936.2:n.274A>G, NR_136936.1:n.402A>C, NR_136936.1:n.402A>G, NM_001326303.2:c.75A>C, NM_001326303.2:c.75A>G, NM_001326303.1:c.75A>C, NM_001326303.1:c.75A>G, NM_001326295.2:c.177A>C, NM_001326295.2:c.177A>G, NM_001326295.1:c.177A>C, NM_001326295.1:c.177A>G, NM_001326298.2:c.177A>C, NM_001326298.2:c.177A>G, NM_001326298.1:c.177A>C, NM_001326298.1:c.177A>G, NM_001326313.2:c.177A>C, NM_001326313.2:c.177A>G, NM_001326313.1:c.177A>C, NM_001326313.1:c.177A>G, NM_001326306.2:c.177A>C, NM_001326306.2:c.177A>G, NM_001326306.1:c.177A>C, NM_001326306.1:c.177A>G

          5.

          rs1486045278 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            14:88602863 (GRCh38)
            14:89069207 (GRCh37)
            Canonical SPDI:
            NC_000014.9:88602862:A:C
            Gene:
            ZC3H14 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000014.9:g.88602863A>C, NC_000014.8:g.89069207A>C, NG_050601.1:g.44955A>C, NM_024824.4:c.1550A>C, NM_024824.5:c.1550A>C, NM_001326316.1:c.1448A>C, NM_001326316.2:c.1448A>C, NM_001326297.2:c.1448A>C, NM_001326297.1:c.1448A>C, NM_001326315.2:c.1448A>C, NM_001326315.1:c.1448A>C, NM_001326301.2:c.1373A>C, NM_001326301.1:c.1373A>C, NM_001160103.2:c.1550A>C, NM_001160103.1:c.1550A>C, NM_001326310.2:c.1550A>C, NM_001326310.1:c.1550A>C, NM_001160104.2:c.1550A>C, NM_001160104.1:c.1550A>C, NM_001326307.2:c.1475A>C, NM_001326307.1:c.1475A>C, NM_001326296.2:c.1475A>C, NM_001326296.1:c.1475A>C, NM_001326312.2:c.1475A>C, NM_001326312.1:c.1475A>C, NM_001326299.2:c.1475A>C, NM_001326299.1:c.1475A>C, NM_001326300.2:c.1085A>C, NM_001326300.1:c.1085A>C, NM_001326302.2:c.1085A>C, NM_001326302.1:c.1085A>C, NR_136936.2:n.1487A>C, NR_136936.1:n.1615A>C, NM_001326305.2:c.1010A>C, NM_001326305.1:c.1010A>C, NM_001326314.2:c.1010A>C, NM_001326314.1:c.1010A>C, NP_079100.2:p.Lys517Thr, NP_001313245.1:p.Lys483Thr, NP_001313226.1:p.Lys483Thr, NP_001313244.1:p.Lys483Thr, NP_001313230.1:p.Lys458Thr, NP_001153575.1:p.Lys517Thr, NP_001313239.1:p.Lys517Thr, NP_001153576.1:p.Lys517Thr, NP_001313236.1:p.Lys492Thr, NP_001313225.1:p.Lys492Thr, NP_001313241.1:p.Lys492Thr, NP_001313228.1:p.Lys492Thr, NP_001313229.1:p.Lys362Thr, NP_001313231.1:p.Lys362Thr, NP_001313234.1:p.Lys337Thr, NP_001313243.1:p.Lys337Thr

            6.

            rs1485399234 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              14:88572052 (GRCh38)
              14:89038396 (GRCh37)
              Canonical SPDI:
              NC_000014.9:88572051:T:C
              Gene:
              ZC3H14 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000014/2 (GnomAD)
              C=0.000015/4 (TOPMED)
              HGVS:
              NC_000014.9:g.88572052T>C, NC_000014.8:g.89038396T>C, NG_050601.1:g.14144T>C, NM_024824.4:c.258T>C, NM_024824.5:c.258T>C, NM_207661.2:c.156T>C, NM_207661.3:c.156T>C, NM_001326316.1:c.156T>C, NM_001326316.2:c.156T>C, NM_207660.4:c.258T>C, NM_207660.3:c.258T>C, XM_011537162.4:c.258T>C, XM_011537162.3:c.258T>C, XM_011537162.2:c.258T>C, XM_011537162.1:c.258T>C, NM_001326297.2:c.156T>C, NM_001326297.1:c.156T>C, NM_001326315.2:c.156T>C, NM_001326315.1:c.156T>C, NM_001326301.2:c.156T>C, NM_001326301.1:c.156T>C, NM_001160103.2:c.258T>C, NM_001160103.1:c.258T>C, NM_001326310.2:c.258T>C, NM_001326310.1:c.258T>C, NM_001160104.2:c.258T>C, NM_001160104.1:c.258T>C, NM_001326307.2:c.258T>C, NM_001326307.1:c.258T>C, NM_001326296.2:c.258T>C, NM_001326296.1:c.258T>C, NM_001326312.2:c.258T>C, NM_001326312.1:c.258T>C, NM_001326299.2:c.258T>C, NM_001326299.1:c.258T>C, NM_001326300.2:c.-208T>C, NM_001326300.1:c.-208T>C, NM_001326302.2:c.-208T>C, NM_001326302.1:c.-208T>C, NR_136936.2:n.355T>C, NR_136936.1:n.483T>C, NM_001326305.2:c.-208T>C, NM_001326305.1:c.-208T>C, NM_001326314.2:c.-208T>C, NM_001326314.1:c.-208T>C, NM_001326303.2:c.156T>C, NM_001326303.1:c.156T>C, NM_001326295.2:c.258T>C, NM_001326295.1:c.258T>C, NM_001326298.2:c.258T>C, NM_001326298.1:c.258T>C, NM_001326308.2:c.-208T>C, NM_001326308.1:c.-208T>C, NM_001326304.2:c.-208T>C, NM_001326304.1:c.-208T>C, NM_001326309.2:c.-208T>C, NM_001326309.1:c.-208T>C, NM_001326311.2:c.-208T>C, NM_001326311.1:c.-208T>C, NM_001326313.2:c.258T>C, NM_001326313.1:c.258T>C, NM_001326306.2:c.258T>C, NM_001326306.1:c.258T>C

              7.

              rs1481356453 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                14:88568134 (GRCh38)
                14:89034478 (GRCh37)
                Canonical SPDI:
                NC_000014.9:88568133:A:G
                Gene:
                ZC3H14 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000014.9:g.88568134A>G, NC_000014.8:g.89034478A>G, NG_050601.1:g.10226A>G, NM_024824.4:c.175A>G, NM_024824.5:c.175A>G, NM_207661.2:c.73A>G, NM_207661.3:c.73A>G, NM_001326316.1:c.73A>G, NM_001326316.2:c.73A>G, NM_207660.4:c.175A>G, NM_207660.3:c.175A>G, XM_011537162.4:c.175A>G, XM_011537162.3:c.175A>G, XM_011537162.2:c.175A>G, XM_011537162.1:c.175A>G, NM_001326297.2:c.73A>G, NM_001326297.1:c.73A>G, NM_001326315.2:c.73A>G, NM_001326315.1:c.73A>G, NM_001326301.2:c.73A>G, NM_001326301.1:c.73A>G, NM_001160103.2:c.175A>G, NM_001160103.1:c.175A>G, NM_001326310.2:c.175A>G, NM_001326310.1:c.175A>G, NM_001160104.2:c.175A>G, NM_001160104.1:c.175A>G, NM_001326307.2:c.175A>G, NM_001326307.1:c.175A>G, NM_001326296.2:c.175A>G, NM_001326296.1:c.175A>G, NM_001326312.2:c.175A>G, NM_001326312.1:c.175A>G, NM_001326299.2:c.175A>G, NM_001326299.1:c.175A>G, NR_136936.2:n.272A>G, NR_136936.1:n.400A>G, NM_001326303.2:c.73A>G, NM_001326303.1:c.73A>G, NM_001326295.2:c.175A>G, NM_001326295.1:c.175A>G, NM_001326298.2:c.175A>G, NM_001326298.1:c.175A>G, NM_001326313.2:c.175A>G, NM_001326313.1:c.175A>G, NM_001326306.2:c.175A>G, NM_001326306.1:c.175A>G, NP_079100.2:p.Thr59Ala, NP_997544.1:p.Thr25Ala, NP_001313245.1:p.Thr25Ala, NP_997543.1:p.Thr59Ala, XP_011535464.1:p.Thr59Ala, NP_001313226.1:p.Thr25Ala, NP_001313244.1:p.Thr25Ala, NP_001313230.1:p.Thr25Ala, NP_001153575.1:p.Thr59Ala, NP_001313239.1:p.Thr59Ala, NP_001153576.1:p.Thr59Ala, NP_001313236.1:p.Thr59Ala, NP_001313225.1:p.Thr59Ala, NP_001313241.1:p.Thr59Ala, NP_001313228.1:p.Thr59Ala, NP_001313232.1:p.Thr25Ala, NP_001313224.1:p.Thr59Ala, NP_001313227.1:p.Thr59Ala, NP_001313242.1:p.Thr59Ala, NP_001313235.1:p.Thr59Ala

                8.

                rs1479617614 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:88568145 (GRCh38)
                  14:89034489 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:88568144:C:T
                  Gene:
                  ZC3H14 (Varview)
                  Functional Consequence:
                  synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000014.9:g.88568145C>T, NC_000014.8:g.89034489C>T, NG_050601.1:g.10237C>T, NM_024824.4:c.186C>T, NM_024824.5:c.186C>T, NM_207661.2:c.84C>T, NM_207661.3:c.84C>T, NM_001326316.1:c.84C>T, NM_001326316.2:c.84C>T, NM_207660.4:c.186C>T, NM_207660.3:c.186C>T, XM_011537162.4:c.186C>T, XM_011537162.3:c.186C>T, XM_011537162.2:c.186C>T, XM_011537162.1:c.186C>T, NM_001326297.2:c.84C>T, NM_001326297.1:c.84C>T, NM_001326315.2:c.84C>T, NM_001326315.1:c.84C>T, NM_001326301.2:c.84C>T, NM_001326301.1:c.84C>T, NM_001160103.2:c.186C>T, NM_001160103.1:c.186C>T, NM_001326310.2:c.186C>T, NM_001326310.1:c.186C>T, NM_001160104.2:c.186C>T, NM_001160104.1:c.186C>T, NM_001326307.2:c.186C>T, NM_001326307.1:c.186C>T, NM_001326296.2:c.186C>T, NM_001326296.1:c.186C>T, NM_001326312.2:c.186C>T, NM_001326312.1:c.186C>T, NM_001326299.2:c.186C>T, NM_001326299.1:c.186C>T, NR_136936.2:n.283C>T, NR_136936.1:n.411C>T, NM_001326303.2:c.84C>T, NM_001326303.1:c.84C>T, NM_001326295.2:c.186C>T, NM_001326295.1:c.186C>T, NM_001326298.2:c.186C>T, NM_001326298.1:c.186C>T, NM_001326313.2:c.186C>T, NM_001326313.1:c.186C>T, NM_001326306.2:c.186C>T, NM_001326306.1:c.186C>T

                  9.

                  rs1479544250 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    14:88572746 (GRCh38)
                    14:89039090 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:88572745:A:G
                    Gene:
                    ZC3H14 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.88572746A>G, NC_000014.8:g.89039090A>G, NG_050601.1:g.14838A>G, NM_024824.4:c.600A>G, NM_024824.5:c.600A>G, NM_207661.2:c.498A>G, NM_207661.3:c.498A>G, NM_001326316.1:c.498A>G, NM_001326316.2:c.498A>G, NM_207660.4:c.600A>G, NM_207660.3:c.600A>G, XM_011537162.4:c.600A>G, XM_011537162.3:c.600A>G, XM_011537162.2:c.600A>G, XM_011537162.1:c.600A>G, NM_001326297.2:c.498A>G, NM_001326297.1:c.498A>G, NM_001326315.2:c.498A>G, NM_001326315.1:c.498A>G, NM_001326301.2:c.498A>G, NM_001326301.1:c.498A>G, NM_001160103.2:c.600A>G, NM_001160103.1:c.600A>G, NM_001326310.2:c.600A>G, NM_001326310.1:c.600A>G, NM_001160104.2:c.600A>G, NM_001160104.1:c.600A>G, NM_001326307.2:c.600A>G, NM_001326307.1:c.600A>G, NM_001326296.2:c.600A>G, NM_001326296.1:c.600A>G, NM_001326312.2:c.600A>G, NM_001326312.1:c.600A>G, NM_001326299.2:c.600A>G, NM_001326299.1:c.600A>G, NM_001326300.2:c.135A>G, NM_001326300.1:c.135A>G, NM_001326302.2:c.135A>G, NM_001326302.1:c.135A>G, NR_136936.2:n.697A>G, NR_136936.1:n.825A>G, NM_001326305.2:c.135A>G, NM_001326305.1:c.135A>G, NM_001326314.2:c.135A>G, NM_001326314.1:c.135A>G, NM_001326303.2:c.498A>G, NM_001326303.1:c.498A>G, NM_001326295.2:c.600A>G, NM_001326295.1:c.600A>G, NM_001326298.2:c.600A>G, NM_001326298.1:c.600A>G, NM_001326308.2:c.135A>G, NM_001326308.1:c.135A>G, NM_001326304.2:c.135A>G, NM_001326304.1:c.135A>G, NM_001326309.2:c.135A>G, NM_001326309.1:c.135A>G, NM_001326311.2:c.135A>G, NM_001326311.1:c.135A>G, NM_001326313.2:c.600A>G, NM_001326313.1:c.600A>G, NM_001326306.2:c.600A>G, NM_001326306.1:c.600A>G

                    10.

                    rs1477120432 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:88572839 (GRCh38)
                      14:89039183 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:88572838:G:A
                      Gene:
                      ZC3H14 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (GnomAD_exomes)
                      A=0.000008/2 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000014.9:g.88572839G>A, NC_000014.8:g.89039183G>A, NG_050601.1:g.14931G>A, NM_024824.4:c.693G>A, NM_024824.5:c.693G>A, NM_207661.2:c.591G>A, NM_207661.3:c.591G>A, NM_001326316.1:c.591G>A, NM_001326316.2:c.591G>A, NM_207660.4:c.693G>A, NM_207660.3:c.693G>A, XM_011537162.4:c.693G>A, XM_011537162.3:c.693G>A, XM_011537162.2:c.693G>A, XM_011537162.1:c.693G>A, NM_001326297.2:c.591G>A, NM_001326297.1:c.591G>A, NM_001326315.2:c.591G>A, NM_001326315.1:c.591G>A, NM_001326301.2:c.591G>A, NM_001326301.1:c.591G>A, NM_001160103.2:c.693G>A, NM_001160103.1:c.693G>A, NM_001326310.2:c.693G>A, NM_001326310.1:c.693G>A, NM_001160104.2:c.693G>A, NM_001160104.1:c.693G>A, NM_001326307.2:c.693G>A, NM_001326307.1:c.693G>A, NM_001326296.2:c.693G>A, NM_001326296.1:c.693G>A, NM_001326312.2:c.693G>A, NM_001326312.1:c.693G>A, NM_001326299.2:c.693G>A, NM_001326299.1:c.693G>A, NM_001326300.2:c.228G>A, NM_001326300.1:c.228G>A, NM_001326302.2:c.228G>A, NM_001326302.1:c.228G>A, NR_136936.2:n.790G>A, NR_136936.1:n.918G>A, NM_001326305.2:c.228G>A, NM_001326305.1:c.228G>A, NM_001326314.2:c.228G>A, NM_001326314.1:c.228G>A, NM_001326303.2:c.591G>A, NM_001326303.1:c.591G>A, NM_001326295.2:c.693G>A, NM_001326295.1:c.693G>A, NM_001326298.2:c.693G>A, NM_001326298.1:c.693G>A, NM_001326308.2:c.228G>A, NM_001326308.1:c.228G>A, NM_001326304.2:c.228G>A, NM_001326304.1:c.228G>A, NM_001326309.2:c.228G>A, NM_001326309.1:c.228G>A, NM_001326311.2:c.228G>A, NM_001326311.1:c.228G>A, NM_001326313.2:c.693G>A, NM_001326313.1:c.693G>A, NM_001326306.2:c.693G>A, NM_001326306.1:c.693G>A

                      11.

                      rs1477065650 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:88609297 (GRCh38)
                        14:89075641 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:88609296:A:G
                        Gene:
                        ZC3H14 (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000014.9:g.88609297A>G, NC_000014.8:g.89075641A>G, NG_050601.1:g.51389A>G, NM_024824.4:c.1899A>G, NM_024824.5:c.1899A>G, NM_207661.2:c.1404A>G, NM_207661.3:c.1404A>G, NM_001326316.1:c.1797A>G, NM_001326316.2:c.1797A>G, NM_207660.4:c.1431A>G, NM_207660.3:c.1431A>G, NM_207662.4:c.612A>G, NM_207662.3:c.612A>G, NM_001326297.2:c.1797A>G, NM_001326297.1:c.1797A>G, NM_001326315.2:c.1797A>G, NM_001326315.1:c.1797A>G, NM_001326301.2:c.1722A>G, NM_001326301.1:c.1722A>G, NM_001160103.2:c.1899A>G, NM_001160103.1:c.1899A>G, NM_001326310.2:c.1884A>G, NM_001326310.1:c.1884A>G, NM_001160104.2:c.1884A>G, NM_001160104.1:c.1884A>G, NM_001326307.2:c.1824A>G, NM_001326307.1:c.1824A>G, NM_001326296.2:c.1824A>G, NM_001326296.1:c.1824A>G, NM_001326312.2:c.1809A>G, NM_001326312.1:c.1809A>G, NM_001326299.2:c.1809A>G, NM_001326299.1:c.1809A>G, NM_001326300.2:c.1434A>G, NM_001326300.1:c.1434A>G, NM_001326302.2:c.1434A>G, NM_001326302.1:c.1434A>G, NR_136936.2:n.1836A>G, NR_136936.1:n.1964A>G, NM_001326305.2:c.1359A>G, NM_001326305.1:c.1359A>G, NM_001326314.2:c.1359A>G, NM_001326314.1:c.1359A>G, NM_001326303.2:c.1329A>G, NM_001326303.1:c.1329A>G, NM_001326295.2:c.1506A>G, NM_001326295.1:c.1506A>G, NM_001326298.2:c.1431A>G, NM_001326298.1:c.1431A>G, NM_001326308.2:c.1041A>G, NM_001326308.1:c.1041A>G, NM_001326304.2:c.1041A>G, NM_001326304.1:c.1041A>G, NM_001326309.2:c.966A>G, NM_001326309.1:c.966A>G, NM_001326311.2:c.966A>G, NM_001326311.1:c.966A>G, NM_001326313.2:c.1275A>G, NM_001326313.1:c.1275A>G, NM_001326306.2:c.1275A>G, NM_001326306.1:c.1275A>G

                        12.

                        rs1476463936 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          14:88602052 (GRCh38)
                          14:89068396 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:88602051:C:A,NC_000014.9:88602051:C:T
                          Gene:
                          ZC3H14 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000066/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          T=0.000011/3 (TOPMED)
                          T=0.000223/1 (Estonian)
                          HGVS:
                          NC_000014.9:g.88602052C>A, NC_000014.9:g.88602052C>T, NC_000014.8:g.89068396C>A, NC_000014.8:g.89068396C>T, NG_050601.1:g.44144C>A, NG_050601.1:g.44144C>T, NM_024824.4:c.1483C>A, NM_024824.4:c.1483C>T, NM_024824.5:c.1483C>A, NM_024824.5:c.1483C>T, NM_001326316.1:c.1381C>A, NM_001326316.1:c.1381C>T, NM_001326316.2:c.1381C>A, NM_001326316.2:c.1381C>T, NM_001326297.2:c.1381C>A, NM_001326297.2:c.1381C>T, NM_001326297.1:c.1381C>A, NM_001326297.1:c.1381C>T, NM_001326315.2:c.1381C>A, NM_001326315.2:c.1381C>T, NM_001326315.1:c.1381C>A, NM_001326315.1:c.1381C>T, NM_001326301.2:c.1306C>A, NM_001326301.2:c.1306C>T, NM_001326301.1:c.1306C>A, NM_001326301.1:c.1306C>T, NM_001160103.2:c.1483C>A, NM_001160103.2:c.1483C>T, NM_001160103.1:c.1483C>A, NM_001160103.1:c.1483C>T, NM_001326310.2:c.1483C>A, NM_001326310.2:c.1483C>T, NM_001326310.1:c.1483C>A, NM_001326310.1:c.1483C>T, NM_001160104.2:c.1483C>A, NM_001160104.2:c.1483C>T, NM_001160104.1:c.1483C>A, NM_001160104.1:c.1483C>T, NM_001326307.2:c.1408C>A, NM_001326307.2:c.1408C>T, NM_001326307.1:c.1408C>A, NM_001326307.1:c.1408C>T, NM_001326296.2:c.1408C>A, NM_001326296.2:c.1408C>T, NM_001326296.1:c.1408C>A, NM_001326296.1:c.1408C>T, NM_001326312.2:c.1408C>A, NM_001326312.2:c.1408C>T, NM_001326312.1:c.1408C>A, NM_001326312.1:c.1408C>T, NM_001326299.2:c.1408C>A, NM_001326299.2:c.1408C>T, NM_001326299.1:c.1408C>A, NM_001326299.1:c.1408C>T, NM_001326300.2:c.1018C>A, NM_001326300.2:c.1018C>T, NM_001326300.1:c.1018C>A, NM_001326300.1:c.1018C>T, NM_001326302.2:c.1018C>A, NM_001326302.2:c.1018C>T, NM_001326302.1:c.1018C>A, NM_001326302.1:c.1018C>T, NM_001326305.2:c.943C>A, NM_001326305.2:c.943C>T, NM_001326305.1:c.943C>A, NM_001326305.1:c.943C>T, NM_001326314.2:c.943C>A, NM_001326314.2:c.943C>T, NM_001326314.1:c.943C>A, NM_001326314.1:c.943C>T, NP_079100.2:p.Arg495Trp, NP_001313245.1:p.Arg461Trp, NP_001313226.1:p.Arg461Trp, NP_001313244.1:p.Arg461Trp, NP_001313230.1:p.Arg436Trp, NP_001153575.1:p.Arg495Trp, NP_001313239.1:p.Arg495Trp, NP_001153576.1:p.Arg495Trp, NP_001313236.1:p.Arg470Trp, NP_001313225.1:p.Arg470Trp, NP_001313241.1:p.Arg470Trp, NP_001313228.1:p.Arg470Trp, NP_001313229.1:p.Arg340Trp, NP_001313231.1:p.Arg340Trp, NP_001313234.1:p.Arg315Trp, NP_001313243.1:p.Arg315Trp

                          13.

                          rs1476096827 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:88572741 (GRCh38)
                            14:89039085 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:88572740:C:T
                            Gene:
                            ZC3H14 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000014.9:g.88572741C>T, NC_000014.8:g.89039085C>T, NG_050601.1:g.14833C>T, NM_024824.4:c.595C>T, NM_024824.5:c.595C>T, NM_207661.2:c.493C>T, NM_207661.3:c.493C>T, NM_001326316.1:c.493C>T, NM_001326316.2:c.493C>T, NM_207660.4:c.595C>T, NM_207660.3:c.595C>T, XM_011537162.4:c.595C>T, XM_011537162.3:c.595C>T, XM_011537162.2:c.595C>T, XM_011537162.1:c.595C>T, NM_001326297.2:c.493C>T, NM_001326297.1:c.493C>T, NM_001326315.2:c.493C>T, NM_001326315.1:c.493C>T, NM_001326301.2:c.493C>T, NM_001326301.1:c.493C>T, NM_001160103.2:c.595C>T, NM_001160103.1:c.595C>T, NM_001326310.2:c.595C>T, NM_001326310.1:c.595C>T, NM_001160104.2:c.595C>T, NM_001160104.1:c.595C>T, NM_001326307.2:c.595C>T, NM_001326307.1:c.595C>T, NM_001326296.2:c.595C>T, NM_001326296.1:c.595C>T, NM_001326312.2:c.595C>T, NM_001326312.1:c.595C>T, NM_001326299.2:c.595C>T, NM_001326299.1:c.595C>T, NM_001326300.2:c.130C>T, NM_001326300.1:c.130C>T, NM_001326302.2:c.130C>T, NM_001326302.1:c.130C>T, NR_136936.2:n.692C>T, NR_136936.1:n.820C>T, NM_001326305.2:c.130C>T, NM_001326305.1:c.130C>T, NM_001326314.2:c.130C>T, NM_001326314.1:c.130C>T, NM_001326303.2:c.493C>T, NM_001326303.1:c.493C>T, NM_001326295.2:c.595C>T, NM_001326295.1:c.595C>T, NM_001326298.2:c.595C>T, NM_001326298.1:c.595C>T, NM_001326308.2:c.130C>T, NM_001326308.1:c.130C>T, NM_001326304.2:c.130C>T, NM_001326304.1:c.130C>T, NM_001326309.2:c.130C>T, NM_001326309.1:c.130C>T, NM_001326311.2:c.130C>T, NM_001326311.1:c.130C>T, NM_001326313.2:c.595C>T, NM_001326313.1:c.595C>T, NM_001326306.2:c.595C>T, NM_001326306.1:c.595C>T, NP_079100.2:p.Pro199Ser, NP_997544.1:p.Pro165Ser, NP_001313245.1:p.Pro165Ser, NP_997543.1:p.Pro199Ser, XP_011535464.1:p.Pro199Ser, NP_001313226.1:p.Pro165Ser, NP_001313244.1:p.Pro165Ser, NP_001313230.1:p.Pro165Ser, NP_001153575.1:p.Pro199Ser, NP_001313239.1:p.Pro199Ser, NP_001153576.1:p.Pro199Ser, NP_001313236.1:p.Pro199Ser, NP_001313225.1:p.Pro199Ser, NP_001313241.1:p.Pro199Ser, NP_001313228.1:p.Pro199Ser, NP_001313229.1:p.Pro44Ser, NP_001313231.1:p.Pro44Ser, NP_001313234.1:p.Pro44Ser, NP_001313243.1:p.Pro44Ser, NP_001313232.1:p.Pro165Ser, NP_001313224.1:p.Pro199Ser, NP_001313227.1:p.Pro199Ser, NP_001313237.1:p.Pro44Ser, NP_001313233.1:p.Pro44Ser, NP_001313238.1:p.Pro44Ser, NP_001313240.1:p.Pro44Ser, NP_001313242.1:p.Pro199Ser, NP_001313235.1:p.Pro199Ser

                            14.

                            rs1475031372 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              14:88574752 (GRCh38)
                              14:89041096 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:88574751:A:T
                              Gene:
                              ZC3H14 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000014.9:g.88574752A>T, NC_000014.8:g.89041096A>T, NG_050601.1:g.16844A>T, NM_024824.4:c.921A>T, NM_024824.5:c.921A>T, NM_207661.2:c.819A>T, NM_207661.3:c.819A>T, NM_001326316.1:c.819A>T, NM_001326316.2:c.819A>T, NM_207660.4:c.921A>T, NM_207660.3:c.921A>T, XM_011537162.4:c.921A>T, XM_011537162.3:c.921A>T, XM_011537162.2:c.921A>T, XM_011537162.1:c.921A>T, NM_001326297.2:c.819A>T, NM_001326297.1:c.819A>T, NM_001326315.2:c.819A>T, NM_001326315.1:c.819A>T, NM_001326301.2:c.819A>T, NM_001326301.1:c.819A>T, NM_001160103.2:c.921A>T, NM_001160103.1:c.921A>T, NM_001326310.2:c.921A>T, NM_001326310.1:c.921A>T, NM_001160104.2:c.921A>T, NM_001160104.1:c.921A>T, NM_001326307.2:c.921A>T, NM_001326307.1:c.921A>T, NM_001326296.2:c.921A>T, NM_001326296.1:c.921A>T, NM_001326312.2:c.921A>T, NM_001326312.1:c.921A>T, NM_001326299.2:c.921A>T, NM_001326299.1:c.921A>T, NM_001326300.2:c.456A>T, NM_001326300.1:c.456A>T, NM_001326302.2:c.456A>T, NM_001326302.1:c.456A>T, NR_136936.2:n.1018A>T, NR_136936.1:n.1146A>T, NM_001326305.2:c.456A>T, NM_001326305.1:c.456A>T, NM_001326314.2:c.456A>T, NM_001326314.1:c.456A>T, NM_001326303.2:c.819A>T, NM_001326303.1:c.819A>T, NM_001326295.2:c.921A>T, NM_001326295.1:c.921A>T, NM_001326298.2:c.921A>T, NM_001326298.1:c.921A>T, NM_001326308.2:c.456A>T, NM_001326308.1:c.456A>T, NM_001326304.2:c.456A>T, NM_001326304.1:c.456A>T, NM_001326309.2:c.456A>T, NM_001326309.1:c.456A>T, NM_001326311.2:c.456A>T, NM_001326311.1:c.456A>T, NM_001326313.2:c.921A>T, NM_001326313.1:c.921A>T, NM_001326306.2:c.921A>T, NM_001326306.1:c.921A>T, NP_079100.2:p.Lys307Asn, NP_997544.1:p.Lys273Asn, NP_001313245.1:p.Lys273Asn, NP_997543.1:p.Lys307Asn, XP_011535464.1:p.Lys307Asn, NP_001313226.1:p.Lys273Asn, NP_001313244.1:p.Lys273Asn, NP_001313230.1:p.Lys273Asn, NP_001153575.1:p.Lys307Asn, NP_001313239.1:p.Lys307Asn, NP_001153576.1:p.Lys307Asn, NP_001313236.1:p.Lys307Asn, NP_001313225.1:p.Lys307Asn, NP_001313241.1:p.Lys307Asn, NP_001313228.1:p.Lys307Asn, NP_001313229.1:p.Lys152Asn, NP_001313231.1:p.Lys152Asn, NP_001313234.1:p.Lys152Asn, NP_001313243.1:p.Lys152Asn, NP_001313232.1:p.Lys273Asn, NP_001313224.1:p.Lys307Asn, NP_001313227.1:p.Lys307Asn, NP_001313237.1:p.Lys152Asn, NP_001313233.1:p.Lys152Asn, NP_001313238.1:p.Lys152Asn, NP_001313240.1:p.Lys152Asn, NP_001313242.1:p.Lys307Asn, NP_001313235.1:p.Lys307Asn

                              15.

                              rs1473309082 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:88572989 (GRCh38)
                                14:89039333 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:88572988:G:A
                                Gene:
                                ZC3H14 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000014.9:g.88572989G>A, NC_000014.8:g.89039333G>A, NG_050601.1:g.15081G>A, NM_024824.4:c.843G>A, NM_024824.5:c.843G>A, NM_207661.2:c.741G>A, NM_207661.3:c.741G>A, NM_001326316.1:c.741G>A, NM_001326316.2:c.741G>A, NM_207660.4:c.843G>A, NM_207660.3:c.843G>A, XM_011537162.4:c.843G>A, XM_011537162.3:c.843G>A, XM_011537162.2:c.843G>A, XM_011537162.1:c.843G>A, NM_001326297.2:c.741G>A, NM_001326297.1:c.741G>A, NM_001326315.2:c.741G>A, NM_001326315.1:c.741G>A, NM_001326301.2:c.741G>A, NM_001326301.1:c.741G>A, NM_001160103.2:c.843G>A, NM_001160103.1:c.843G>A, NM_001326310.2:c.843G>A, NM_001326310.1:c.843G>A, NM_001160104.2:c.843G>A, NM_001160104.1:c.843G>A, NM_001326307.2:c.843G>A, NM_001326307.1:c.843G>A, NM_001326296.2:c.843G>A, NM_001326296.1:c.843G>A, NM_001326312.2:c.843G>A, NM_001326312.1:c.843G>A, NM_001326299.2:c.843G>A, NM_001326299.1:c.843G>A, NM_001326300.2:c.378G>A, NM_001326300.1:c.378G>A, NM_001326302.2:c.378G>A, NM_001326302.1:c.378G>A, NR_136936.2:n.940G>A, NR_136936.1:n.1068G>A, NM_001326305.2:c.378G>A, NM_001326305.1:c.378G>A, NM_001326314.2:c.378G>A, NM_001326314.1:c.378G>A, NM_001326303.2:c.741G>A, NM_001326303.1:c.741G>A, NM_001326295.2:c.843G>A, NM_001326295.1:c.843G>A, NM_001326298.2:c.843G>A, NM_001326298.1:c.843G>A, NM_001326308.2:c.378G>A, NM_001326308.1:c.378G>A, NM_001326304.2:c.378G>A, NM_001326304.1:c.378G>A, NM_001326309.2:c.378G>A, NM_001326309.1:c.378G>A, NM_001326311.2:c.378G>A, NM_001326311.1:c.378G>A, NM_001326313.2:c.843G>A, NM_001326313.1:c.843G>A, NM_001326306.2:c.843G>A, NM_001326306.1:c.843G>A

                                16.

                                rs1473082732 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:88610853 (GRCh38)
                                  14:89077197 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:88610852:A:G
                                  Gene:
                                  ZC3H14 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.88610853A>G, NC_000014.8:g.89077197A>G, NG_050601.1:g.52945A>G, NM_024824.4:c.2117A>G, NM_024824.5:c.2117A>G, NM_207661.2:c.1622A>G, NM_207661.3:c.1622A>G, NM_001326316.1:c.2012A>G, NM_001326316.2:c.2012A>G, NM_207660.4:c.1646A>G, NM_207660.3:c.1646A>G, NM_207662.4:c.827A>G, NM_207662.3:c.827A>G, NM_001326297.2:c.2015A>G, NM_001326297.1:c.2015A>G, NM_001326315.2:c.2012A>G, NM_001326315.1:c.2012A>G, NM_001326301.2:c.1940A>G, NM_001326301.1:c.1940A>G, NM_001160103.2:c.2114A>G, NM_001160103.1:c.2114A>G, NM_001326310.2:c.2102A>G, NM_001326310.1:c.2102A>G, NM_001160104.2:c.2099A>G, NM_001160104.1:c.2099A>G, NM_001326307.2:c.2042A>G, NM_001326307.1:c.2042A>G, NM_001326296.2:c.2039A>G, NM_001326296.1:c.2039A>G, NM_001326312.2:c.2027A>G, NM_001326312.1:c.2027A>G, NM_001326299.2:c.2024A>G, NM_001326299.1:c.2024A>G, NM_001326300.2:c.1652A>G, NM_001326300.1:c.1652A>G, NM_001326302.2:c.1649A>G, NM_001326302.1:c.1649A>G, NR_136936.2:n.2054A>G, NR_136936.1:n.2182A>G, NM_001326305.2:c.1577A>G, NM_001326305.1:c.1577A>G, NM_001326314.2:c.1574A>G, NM_001326314.1:c.1574A>G, NM_001326303.2:c.1544A>G, NM_001326303.1:c.1544A>G, NM_001326295.2:c.1724A>G, NM_001326295.1:c.1724A>G, NM_001326298.2:c.1649A>G, NM_001326298.1:c.1649A>G, NM_001326308.2:c.1259A>G, NM_001326308.1:c.1259A>G, NM_001326304.2:c.1256A>G, NM_001326304.1:c.1256A>G, NM_001326309.2:c.1184A>G, NM_001326309.1:c.1184A>G, NM_001326311.2:c.1181A>G, NM_001326311.1:c.1181A>G, NM_001326313.2:c.1493A>G, NM_001326313.1:c.1493A>G, NM_001326306.2:c.1490A>G, NM_001326306.1:c.1490A>G, NP_079100.2:p.Gln706Arg, NP_997544.1:p.Gln541Arg, NP_001313245.1:p.Gln671Arg, NP_997543.1:p.Gln549Arg, NP_997545.2:p.Gln276Arg, NP_001313226.1:p.Gln672Arg, NP_001313244.1:p.Gln671Arg, NP_001313230.1:p.Gln647Arg, NP_001153575.1:p.Gln705Arg, NP_001313239.1:p.Gln701Arg, NP_001153576.1:p.Gln700Arg, NP_001313236.1:p.Gln681Arg, NP_001313225.1:p.Gln680Arg, NP_001313241.1:p.Gln676Arg, NP_001313228.1:p.Gln675Arg, NP_001313229.1:p.Gln551Arg, NP_001313231.1:p.Gln550Arg, NP_001313234.1:p.Gln526Arg, NP_001313243.1:p.Gln525Arg, NP_001313232.1:p.Gln515Arg, NP_001313224.1:p.Gln575Arg, NP_001313227.1:p.Gln550Arg, NP_001313237.1:p.Gln420Arg, NP_001313233.1:p.Gln419Arg, NP_001313238.1:p.Gln395Arg, NP_001313240.1:p.Gln394Arg, NP_001313242.1:p.Gln498Arg, NP_001313235.1:p.Gln497Arg

                                  17.

                                  rs1472647006 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    14:88578057 (GRCh38)
                                    14:89044401 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:88578056:T:C
                                    Gene:
                                    ZC3H14 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.88578057T>C, NC_000014.8:g.89044401T>C, NG_050601.1:g.20149T>C, NM_024824.4:c.1196T>C, NM_024824.5:c.1196T>C, NM_207661.2:c.1094T>C, NM_207661.3:c.1094T>C, NM_001326316.1:c.1094T>C, NM_001326316.2:c.1094T>C, NM_207660.4:c.1196T>C, NM_207660.3:c.1196T>C, XM_011537162.4:c.1196T>C, XM_011537162.3:c.1196T>C, XM_011537162.2:c.1196T>C, XM_011537162.1:c.1196T>C, NM_001326297.2:c.1094T>C, NM_001326297.1:c.1094T>C, NM_001326315.2:c.1094T>C, NM_001326315.1:c.1094T>C, NM_001326301.2:c.1094T>C, NM_001326301.1:c.1094T>C, NM_001160103.2:c.1196T>C, NM_001160103.1:c.1196T>C, NM_001326310.2:c.1196T>C, NM_001326310.1:c.1196T>C, NM_001160104.2:c.1196T>C, NM_001160104.1:c.1196T>C, NM_001326307.2:c.1196T>C, NM_001326307.1:c.1196T>C, NM_001326296.2:c.1196T>C, NM_001326296.1:c.1196T>C, NM_001326312.2:c.1196T>C, NM_001326312.1:c.1196T>C, NM_001326299.2:c.1196T>C, NM_001326299.1:c.1196T>C, NM_001326300.2:c.731T>C, NM_001326300.1:c.731T>C, NM_001326302.2:c.731T>C, NM_001326302.1:c.731T>C, NR_136936.2:n.1293T>C, NR_136936.1:n.1421T>C, NM_001326305.2:c.731T>C, NM_001326305.1:c.731T>C, NM_001326314.2:c.731T>C, NM_001326314.1:c.731T>C, NM_001326303.2:c.1094T>C, NM_001326303.1:c.1094T>C, NM_001326295.2:c.1196T>C, NM_001326295.1:c.1196T>C, NM_001326298.2:c.1196T>C, NM_001326298.1:c.1196T>C, NM_001326308.2:c.731T>C, NM_001326308.1:c.731T>C, NM_001326304.2:c.731T>C, NM_001326304.1:c.731T>C, NM_001326309.2:c.731T>C, NM_001326309.1:c.731T>C, NM_001326311.2:c.731T>C, NM_001326311.1:c.731T>C, NP_079100.2:p.Val399Ala, NP_997544.1:p.Val365Ala, NP_001313245.1:p.Val365Ala, NP_997543.1:p.Val399Ala, XP_011535464.1:p.Val399Ala, NP_001313226.1:p.Val365Ala, NP_001313244.1:p.Val365Ala, NP_001313230.1:p.Val365Ala, NP_001153575.1:p.Val399Ala, NP_001313239.1:p.Val399Ala, NP_001153576.1:p.Val399Ala, NP_001313236.1:p.Val399Ala, NP_001313225.1:p.Val399Ala, NP_001313241.1:p.Val399Ala, NP_001313228.1:p.Val399Ala, NP_001313229.1:p.Val244Ala, NP_001313231.1:p.Val244Ala, NP_001313234.1:p.Val244Ala, NP_001313243.1:p.Val244Ala, NP_001313232.1:p.Val365Ala, NP_001313224.1:p.Val399Ala, NP_001313227.1:p.Val399Ala, NP_001313237.1:p.Val244Ala, NP_001313233.1:p.Val244Ala, NP_001313238.1:p.Val244Ala, NP_001313240.1:p.Val244Ala

                                    18.

                                    rs1471104896 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      14:88596804 (GRCh38)
                                      14:89063148 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:88596803:T:G
                                      Gene:
                                      ZC3H14 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000043/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.88596804T>G, NC_000014.8:g.89063148T>G, NG_050601.1:g.38896T>G, NM_024824.4:c.1350T>G, NM_024824.5:c.1350T>G, NM_207661.2:c.1248T>G, NM_207661.3:c.1248T>G, NM_001326316.1:c.1248T>G, NM_001326316.2:c.1248T>G, NM_207662.4:c.456T>G, NM_207662.3:c.456T>G, NM_001326297.2:c.1248T>G, NM_001326297.1:c.1248T>G, NM_001326315.2:c.1248T>G, NM_001326315.1:c.1248T>G, NM_001160103.2:c.1350T>G, NM_001160103.1:c.1350T>G, NM_001326310.2:c.1350T>G, NM_001326310.1:c.1350T>G, NM_001160104.2:c.1350T>G, NM_001160104.1:c.1350T>G, NM_001326300.2:c.885T>G, NM_001326300.1:c.885T>G, NM_001326302.2:c.885T>G, NM_001326302.1:c.885T>G, NR_136936.2:n.1447T>G, NR_136936.1:n.1575T>G, NM_001326295.2:c.1350T>G, NM_001326295.1:c.1350T>G, NM_001326308.2:c.885T>G, NM_001326308.1:c.885T>G, NM_001326304.2:c.885T>G, NM_001326304.1:c.885T>G, NP_079100.2:p.Ser450Arg, NP_997544.1:p.Ser416Arg, NP_001313245.1:p.Ser416Arg, NP_997545.2:p.Ser152Arg, NP_001313226.1:p.Ser416Arg, NP_001313244.1:p.Ser416Arg, NP_001153575.1:p.Ser450Arg, NP_001313239.1:p.Ser450Arg, NP_001153576.1:p.Ser450Arg, NP_001313229.1:p.Ser295Arg, NP_001313231.1:p.Ser295Arg, NP_001313224.1:p.Ser450Arg, NP_001313237.1:p.Ser295Arg, NP_001313233.1:p.Ser295Arg

                                      19.

                                      rs1471074345 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:88609293 (GRCh38)
                                        14:89075637 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:88609292:A:G
                                        Gene:
                                        ZC3H14 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.88609293A>G, NC_000014.8:g.89075637A>G, NG_050601.1:g.51385A>G, NM_024824.4:c.1895A>G, NM_024824.5:c.1895A>G, NM_207661.2:c.1400A>G, NM_207661.3:c.1400A>G, NM_001326316.1:c.1793A>G, NM_001326316.2:c.1793A>G, NM_207660.4:c.1427A>G, NM_207660.3:c.1427A>G, NM_207662.4:c.608A>G, NM_207662.3:c.608A>G, NM_001326297.2:c.1793A>G, NM_001326297.1:c.1793A>G, NM_001326315.2:c.1793A>G, NM_001326315.1:c.1793A>G, NM_001326301.2:c.1718A>G, NM_001326301.1:c.1718A>G, NM_001160103.2:c.1895A>G, NM_001160103.1:c.1895A>G, NM_001326310.2:c.1880A>G, NM_001326310.1:c.1880A>G, NM_001160104.2:c.1880A>G, NM_001160104.1:c.1880A>G, NM_001326307.2:c.1820A>G, NM_001326307.1:c.1820A>G, NM_001326296.2:c.1820A>G, NM_001326296.1:c.1820A>G, NM_001326312.2:c.1805A>G, NM_001326312.1:c.1805A>G, NM_001326299.2:c.1805A>G, NM_001326299.1:c.1805A>G, NM_001326300.2:c.1430A>G, NM_001326300.1:c.1430A>G, NM_001326302.2:c.1430A>G, NM_001326302.1:c.1430A>G, NR_136936.2:n.1832A>G, NR_136936.1:n.1960A>G, NM_001326305.2:c.1355A>G, NM_001326305.1:c.1355A>G, NM_001326314.2:c.1355A>G, NM_001326314.1:c.1355A>G, NM_001326303.2:c.1325A>G, NM_001326303.1:c.1325A>G, NM_001326295.2:c.1502A>G, NM_001326295.1:c.1502A>G, NM_001326298.2:c.1427A>G, NM_001326298.1:c.1427A>G, NM_001326308.2:c.1037A>G, NM_001326308.1:c.1037A>G, NM_001326304.2:c.1037A>G, NM_001326304.1:c.1037A>G, NM_001326309.2:c.962A>G, NM_001326309.1:c.962A>G, NM_001326311.2:c.962A>G, NM_001326311.1:c.962A>G, NM_001326313.2:c.1271A>G, NM_001326313.1:c.1271A>G, NM_001326306.2:c.1271A>G, NM_001326306.1:c.1271A>G, NP_079100.2:p.Glu632Gly, NP_997544.1:p.Glu467Gly, NP_001313245.1:p.Glu598Gly, NP_997543.1:p.Glu476Gly, NP_997545.2:p.Glu203Gly, NP_001313226.1:p.Glu598Gly, NP_001313244.1:p.Glu598Gly, NP_001313230.1:p.Glu573Gly, NP_001153575.1:p.Glu632Gly, NP_001313239.1:p.Glu627Gly, NP_001153576.1:p.Glu627Gly, NP_001313236.1:p.Glu607Gly, NP_001313225.1:p.Glu607Gly, NP_001313241.1:p.Glu602Gly, NP_001313228.1:p.Glu602Gly, NP_001313229.1:p.Glu477Gly, NP_001313231.1:p.Glu477Gly, NP_001313234.1:p.Glu452Gly, NP_001313243.1:p.Glu452Gly, NP_001313232.1:p.Glu442Gly, NP_001313224.1:p.Glu501Gly, NP_001313227.1:p.Glu476Gly, NP_001313237.1:p.Glu346Gly, NP_001313233.1:p.Glu346Gly, NP_001313238.1:p.Glu321Gly, NP_001313240.1:p.Glu321Gly, NP_001313242.1:p.Glu424Gly, NP_001313235.1:p.Glu424Gly

                                        20.

                                        rs1470029045 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          14:88571115 (GRCh38)
                                          14:89037459 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:88571114:G:T
                                          Gene:
                                          ZC3H14 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.88571115G>T, NC_000014.8:g.89037459G>T, NG_050601.1:g.13207G>T, NM_024824.4:c.226G>T, NM_024824.5:c.226G>T, NM_207661.2:c.124G>T, NM_207661.3:c.124G>T, NM_001326316.1:c.124G>T, NM_001326316.2:c.124G>T, NM_207660.4:c.226G>T, NM_207660.3:c.226G>T, XM_011537162.4:c.226G>T, XM_011537162.3:c.226G>T, XM_011537162.2:c.226G>T, XM_011537162.1:c.226G>T, NM_001326297.2:c.124G>T, NM_001326297.1:c.124G>T, NM_001326315.2:c.124G>T, NM_001326315.1:c.124G>T, NM_001326301.2:c.124G>T, NM_001326301.1:c.124G>T, NM_001160103.2:c.226G>T, NM_001160103.1:c.226G>T, NM_001326310.2:c.226G>T, NM_001326310.1:c.226G>T, NM_001160104.2:c.226G>T, NM_001160104.1:c.226G>T, NM_001326307.2:c.226G>T, NM_001326307.1:c.226G>T, NM_001326296.2:c.226G>T, NM_001326296.1:c.226G>T, NM_001326312.2:c.226G>T, NM_001326312.1:c.226G>T, NM_001326299.2:c.226G>T, NM_001326299.1:c.226G>T, NM_001326300.2:c.-240G>T, NM_001326300.1:c.-240G>T, NM_001326302.2:c.-240G>T, NM_001326302.1:c.-240G>T, NR_136936.2:n.323G>T, NR_136936.1:n.451G>T, NM_001326305.2:c.-240G>T, NM_001326305.1:c.-240G>T, NM_001326314.2:c.-240G>T, NM_001326314.1:c.-240G>T, NM_001326303.2:c.124G>T, NM_001326303.1:c.124G>T, NM_001326295.2:c.226G>T, NM_001326295.1:c.226G>T, NM_001326298.2:c.226G>T, NM_001326298.1:c.226G>T, NM_001326308.2:c.-240G>T, NM_001326308.1:c.-240G>T, NM_001326304.2:c.-240G>T, NM_001326304.1:c.-240G>T, NM_001326309.2:c.-240G>T, NM_001326309.1:c.-240G>T, NM_001326311.2:c.-240G>T, NM_001326311.1:c.-240G>T, NM_001326313.2:c.226G>T, NM_001326313.1:c.226G>T, NM_001326306.2:c.226G>T, NM_001326306.1:c.226G>T, NP_079100.2:p.Val76Phe, NP_997544.1:p.Val42Phe, NP_001313245.1:p.Val42Phe, NP_997543.1:p.Val76Phe, XP_011535464.1:p.Val76Phe, NP_001313226.1:p.Val42Phe, NP_001313244.1:p.Val42Phe, NP_001313230.1:p.Val42Phe, NP_001153575.1:p.Val76Phe, NP_001313239.1:p.Val76Phe, NP_001153576.1:p.Val76Phe, NP_001313236.1:p.Val76Phe, NP_001313225.1:p.Val76Phe, NP_001313241.1:p.Val76Phe, NP_001313228.1:p.Val76Phe, NP_001313232.1:p.Val42Phe, NP_001313224.1:p.Val76Phe, NP_001313227.1:p.Val76Phe, NP_001313242.1:p.Val76Phe, NP_001313235.1:p.Val76Phe

                                          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...