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Links from Protein

Items: 1 to 20 of 237

1.

rs1487688787 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    3:44646504 (GRCh38)
    3:44687996 (GRCh37)
    Canonical SPDI:
    NC_000003.12:44646503:C:G
    Gene:
    ZNF35 (Varview), ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,stop_gained
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.44646504C>G, NC_000003.11:g.44687996C>G, NW_009646197.1:g.171858C>G, NM_006991.5:c.*2284C>G, NM_006991.4:c.*2284C>G, NM_001024855.3:c.783C>G, NM_001024855.2:c.783C>G, NM_001024855.1:c.783C>G, NM_001351732.2:c.*2284C>G, NM_001351732.1:c.*2284C>G, NM_001323293.2:c.*2284C>G, NM_001323293.1:c.*2284C>G, NM_001323296.2:c.*2284C>G, NM_001323296.1:c.*2284C>G, NR_147691.2:n.1150C>G, NR_147691.1:n.1264C>G, NR_136582.2:n.1105C>G, NR_136582.1:n.1122C>G, NM_001351735.2:c.783C>G, NM_001351735.1:c.783C>G, NM_001351734.2:c.783C>G, NM_001351734.1:c.783C>G, NM_001323294.2:c.783C>G, NM_001323294.1:c.783C>G, NR_147692.2:n.5741C>G, NR_147692.1:n.5855C>G, NM_001323295.2:c.*2284C>G, NM_001323295.1:c.*2284C>G, NM_001351733.2:c.*2284C>G, NM_001351733.1:c.*2284C>G, NP_001020026.1:p.Tyr261Ter, NP_001338664.1:p.Tyr261Ter, NP_001338663.1:p.Tyr261Ter, NP_001310223.1:p.Tyr261Ter

    2.

    rs1486903162 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:44632579 (GRCh38)
      3:44674071 (GRCh37)
      Canonical SPDI:
      NC_000003.12:44632578:A:G
      Gene:
      ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.44632579A>G, NC_000003.11:g.44674071A>G, NW_009646197.1:g.157933A>G, NM_006991.5:c.749A>G, NM_006991.4:c.749A>G, NM_006991.3:c.749A>G, NM_001024855.3:c.749A>G, NM_001024855.2:c.749A>G, NM_001024855.1:c.749A>G, NM_001323295.2:c.140A>G, NM_001323295.1:c.140A>G, NM_001351733.2:c.749A>G, NM_001351733.1:c.749A>G, NM_001351732.2:c.749A>G, NM_001351732.1:c.749A>G, NM_001323293.2:c.749A>G, NM_001323293.1:c.749A>G, NM_001323296.2:c.110A>G, NM_001323296.1:c.110A>G, NR_147691.2:n.1116A>G, NR_147691.1:n.1230A>G, NR_136582.2:n.1071A>G, NR_136582.1:n.1088A>G, NM_001351735.2:c.749A>G, NM_001351735.1:c.749A>G, NM_001351734.2:c.749A>G, NM_001351734.1:c.749A>G, NM_001323294.2:c.749A>G, NM_001323294.1:c.749A>G, NR_147692.2:n.1116A>G, NR_147692.1:n.1230A>G, NP_008922.1:p.Tyr250Cys, NP_001020026.1:p.Tyr250Cys, NP_001310224.1:p.Tyr47Cys, NP_001338662.1:p.Tyr250Cys, NP_001338661.1:p.Tyr250Cys, NP_001310222.1:p.Tyr250Cys, NP_001310225.1:p.Tyr37Cys, NP_001338664.1:p.Tyr250Cys, NP_001338663.1:p.Tyr250Cys, NP_001310223.1:p.Tyr250Cys

      3.

      rs1484729992 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        3:44632587 (GRCh38)
        3:44674079 (GRCh37)
        Canonical SPDI:
        NC_000003.12:44632586:G:A,NC_000003.12:44632586:G:C
        Gene:
        ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000031/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        C=0.000071/1 (TOMMO)
        HGVS:
        NC_000003.12:g.44632587G>A, NC_000003.12:g.44632587G>C, NC_000003.11:g.44674079G>A, NC_000003.11:g.44674079G>C, NW_009646197.1:g.157941G>A, NW_009646197.1:g.157941G>C, NM_006991.5:c.757G>A, NM_006991.5:c.757G>C, NM_006991.4:c.757G>A, NM_006991.4:c.757G>C, NM_006991.3:c.757G>A, NM_006991.3:c.757G>C, NM_001024855.3:c.757G>A, NM_001024855.3:c.757G>C, NM_001024855.2:c.757G>A, NM_001024855.2:c.757G>C, NM_001024855.1:c.757G>A, NM_001024855.1:c.757G>C, NM_001323295.2:c.148G>A, NM_001323295.2:c.148G>C, NM_001323295.1:c.148G>A, NM_001323295.1:c.148G>C, NM_001351733.2:c.757G>A, NM_001351733.2:c.757G>C, NM_001351733.1:c.757G>A, NM_001351733.1:c.757G>C, NM_001351732.2:c.757G>A, NM_001351732.2:c.757G>C, NM_001351732.1:c.757G>A, NM_001351732.1:c.757G>C, NM_001323293.2:c.757G>A, NM_001323293.2:c.757G>C, NM_001323293.1:c.757G>A, NM_001323293.1:c.757G>C, NM_001323296.2:c.118G>A, NM_001323296.2:c.118G>C, NM_001323296.1:c.118G>A, NM_001323296.1:c.118G>C, NR_147691.2:n.1124G>A, NR_147691.2:n.1124G>C, NR_147691.1:n.1238G>A, NR_147691.1:n.1238G>C, NR_136582.2:n.1079G>A, NR_136582.2:n.1079G>C, NR_136582.1:n.1096G>A, NR_136582.1:n.1096G>C, NM_001351735.2:c.757G>A, NM_001351735.2:c.757G>C, NM_001351735.1:c.757G>A, NM_001351735.1:c.757G>C, NM_001351734.2:c.757G>A, NM_001351734.2:c.757G>C, NM_001351734.1:c.757G>A, NM_001351734.1:c.757G>C, NM_001323294.2:c.757G>A, NM_001323294.2:c.757G>C, NM_001323294.1:c.757G>A, NM_001323294.1:c.757G>C, NR_147692.2:n.1124G>A, NR_147692.2:n.1124G>C, NR_147692.1:n.1238G>A, NR_147692.1:n.1238G>C, NP_008922.1:p.Val253Met, NP_008922.1:p.Val253Leu, NP_001020026.1:p.Val253Met, NP_001020026.1:p.Val253Leu, NP_001310224.1:p.Val50Met, NP_001310224.1:p.Val50Leu, NP_001338662.1:p.Val253Met, NP_001338662.1:p.Val253Leu, NP_001338661.1:p.Val253Met, NP_001338661.1:p.Val253Leu, NP_001310222.1:p.Val253Met, NP_001310222.1:p.Val253Leu, NP_001310225.1:p.Val40Met, NP_001310225.1:p.Val40Leu, NP_001338664.1:p.Val253Met, NP_001338664.1:p.Val253Leu, NP_001338663.1:p.Val253Met, NP_001338663.1:p.Val253Leu, NP_001310223.1:p.Val253Met, NP_001310223.1:p.Val253Leu

        4.

        rs1478818175 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          3:44629200 (GRCh38)
          3:44670693 (GRCh37)
          Canonical SPDI:
          NC_000003.12:44629200:TT:TTT
          Gene:
          ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTT=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000003.12:g.44629202dup, NC_000003.11:g.44670694dup, NW_009646197.1:g.154556dup, NM_006991.5:c.48dup, NM_006991.4:c.48dup, NM_006991.3:c.48dup, NM_001024855.3:c.48dup, NM_001024855.2:c.48dup, NM_001024855.1:c.48dup, NM_001323295.2:c.-695dup, NM_001323295.1:c.-695dup, NM_001351733.2:c.48dup, NM_001351733.1:c.48dup, NM_001351732.2:c.48dup, NM_001351732.1:c.48dup, NM_001323293.2:c.48dup, NM_001323293.1:c.48dup, NM_001323296.2:c.-500dup, NM_001323296.1:c.-500dup, NR_147691.2:n.282dup, NR_147691.1:n.396dup, NR_136582.2:n.237dup, NR_136582.1:n.254dup, NM_001351735.2:c.48dup, NM_001351735.1:c.48dup, NM_001351734.2:c.48dup, NM_001351734.1:c.48dup, NM_001323294.2:c.48dup, NM_001323294.1:c.48dup, NR_147692.2:n.282dup, NR_147692.1:n.396dup, NP_008922.1:p.Val17fs, NP_001020026.1:p.Val17fs, NP_001338662.1:p.Val17fs, NP_001338661.1:p.Val17fs, NP_001310222.1:p.Val17fs, NP_001338664.1:p.Val17fs, NP_001338663.1:p.Val17fs, NP_001310223.1:p.Val17fs

          5.

          rs1478542247 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            3:44629203 (GRCh38)
            3:44670695 (GRCh37)
            Canonical SPDI:
            NC_000003.12:44629202:G:A,NC_000003.12:44629202:G:T
            Gene:
            ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000003.12:g.44629203G>A, NC_000003.12:g.44629203G>T, NC_000003.11:g.44670695G>A, NC_000003.11:g.44670695G>T, NW_009646197.1:g.154557G>A, NW_009646197.1:g.154557G>T, NM_006991.5:c.49G>A, NM_006991.5:c.49G>T, NM_006991.4:c.49G>A, NM_006991.4:c.49G>T, NM_006991.3:c.49G>A, NM_006991.3:c.49G>T, NM_001024855.3:c.49G>A, NM_001024855.3:c.49G>T, NM_001024855.2:c.49G>A, NM_001024855.2:c.49G>T, NM_001024855.1:c.49G>A, NM_001024855.1:c.49G>T, NM_001323295.2:c.-694G>A, NM_001323295.2:c.-694G>T, NM_001323295.1:c.-694G>A, NM_001323295.1:c.-694G>T, NR_147692.2:n.283G>A, NR_147692.2:n.283G>T, NR_147692.1:n.397G>A, NR_147692.1:n.397G>T, NM_001351733.2:c.49G>A, NM_001351733.2:c.49G>T, NM_001351733.1:c.49G>A, NM_001351733.1:c.49G>T, NM_001351732.2:c.49G>A, NM_001351732.2:c.49G>T, NM_001351732.1:c.49G>A, NM_001351732.1:c.49G>T, NM_001323293.2:c.49G>A, NM_001323293.2:c.49G>T, NM_001323293.1:c.49G>A, NM_001323293.1:c.49G>T, NM_001323296.2:c.-499G>A, NM_001323296.2:c.-499G>T, NM_001323296.1:c.-499G>A, NM_001323296.1:c.-499G>T, NR_147691.2:n.283G>A, NR_147691.2:n.283G>T, NR_147691.1:n.397G>A, NR_147691.1:n.397G>T, NR_136582.2:n.238G>A, NR_136582.2:n.238G>T, NR_136582.1:n.255G>A, NR_136582.1:n.255G>T, NM_001351735.2:c.49G>A, NM_001351735.2:c.49G>T, NM_001351735.1:c.49G>A, NM_001351735.1:c.49G>T, NM_001351734.2:c.49G>A, NM_001351734.2:c.49G>T, NM_001351734.1:c.49G>A, NM_001351734.1:c.49G>T, NM_001323294.2:c.49G>A, NM_001323294.2:c.49G>T, NM_001323294.1:c.49G>A, NM_001323294.1:c.49G>T, NP_008922.1:p.Val17Met, NP_008922.1:p.Val17Leu, NP_001020026.1:p.Val17Met, NP_001020026.1:p.Val17Leu, NP_001338662.1:p.Val17Met, NP_001338662.1:p.Val17Leu, NP_001338661.1:p.Val17Met, NP_001338661.1:p.Val17Leu, NP_001310222.1:p.Val17Met, NP_001310222.1:p.Val17Leu, NP_001338664.1:p.Val17Met, NP_001338664.1:p.Val17Leu, NP_001338663.1:p.Val17Met, NP_001338663.1:p.Val17Leu, NP_001310223.1:p.Val17Met, NP_001310223.1:p.Val17Leu

            6.

            rs1477741196 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              3:44632528 (GRCh38)
              3:44674020 (GRCh37)
              Canonical SPDI:
              NC_000003.12:44632527:G:T
              Gene:
              ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000003.12:g.44632528G>T, NC_000003.11:g.44674020G>T, NW_009646197.1:g.157882G>T, NM_006991.5:c.698G>T, NM_006991.4:c.698G>T, NM_006991.3:c.698G>T, NM_001024855.3:c.698G>T, NM_001024855.2:c.698G>T, NM_001024855.1:c.698G>T, NM_001323295.2:c.89G>T, NM_001323295.1:c.89G>T, NM_001351733.2:c.698G>T, NM_001351733.1:c.698G>T, NM_001351732.2:c.698G>T, NM_001351732.1:c.698G>T, NM_001323293.2:c.698G>T, NM_001323293.1:c.698G>T, NM_001323296.2:c.59G>T, NM_001323296.1:c.59G>T, NR_147691.2:n.1065G>T, NR_147691.1:n.1179G>T, NR_136582.2:n.1020G>T, NR_136582.1:n.1037G>T, NM_001351735.2:c.698G>T, NM_001351735.1:c.698G>T, NM_001351734.2:c.698G>T, NM_001351734.1:c.698G>T, NM_001323294.2:c.698G>T, NM_001323294.1:c.698G>T, NR_147692.2:n.1065G>T, NR_147692.1:n.1179G>T, NP_008922.1:p.Cys233Phe, NP_001020026.1:p.Cys233Phe, NP_001310224.1:p.Cys30Phe, NP_001338662.1:p.Cys233Phe, NP_001338661.1:p.Cys233Phe, NP_001310222.1:p.Cys233Phe, NP_001310225.1:p.Cys20Phe, NP_001338664.1:p.Cys233Phe, NP_001338663.1:p.Cys233Phe, NP_001310223.1:p.Cys233Phe

              7.

              rs1475260712 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:44631138 (GRCh38)
                3:44672630 (GRCh37)
                Canonical SPDI:
                NC_000003.12:44631137:T:C
                Gene:
                ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.44631138T>C, NC_000003.11:g.44672630T>C, NW_009646197.1:g.156492T>C, NM_006991.5:c.467T>C, NM_006991.4:c.467T>C, NM_006991.3:c.467T>C, NM_001024855.3:c.467T>C, NM_001024855.2:c.467T>C, NM_001024855.1:c.467T>C, NM_001323295.2:c.-143T>C, NM_001323295.1:c.-143T>C, NM_001351733.2:c.467T>C, NM_001351733.1:c.467T>C, NM_001351732.2:c.467T>C, NM_001351732.1:c.467T>C, NM_001323293.2:c.467T>C, NM_001323293.1:c.467T>C, NM_001323296.2:c.-81T>C, NM_001323296.1:c.-81T>C, NR_147691.2:n.834T>C, NR_147691.1:n.948T>C, NR_136582.2:n.789T>C, NR_136582.1:n.806T>C, NM_001351735.2:c.467T>C, NM_001351735.1:c.467T>C, NM_001351734.2:c.467T>C, NM_001351734.1:c.467T>C, NM_001323294.2:c.467T>C, NM_001323294.1:c.467T>C, NR_147692.2:n.834T>C, NR_147692.1:n.948T>C, NP_008922.1:p.Leu156Pro, NP_001020026.1:p.Leu156Pro, NP_001338662.1:p.Leu156Pro, NP_001338661.1:p.Leu156Pro, NP_001310222.1:p.Leu156Pro, NP_001338664.1:p.Leu156Pro, NP_001338663.1:p.Leu156Pro, NP_001310223.1:p.Leu156Pro

                8.

                rs1472562093 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  3:44629258 (GRCh38)
                  3:44670750 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:44629257:C:G
                  Gene:
                  ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                  HGVS:
                  NC_000003.12:g.44629258C>G, NC_000003.11:g.44670750C>G, NW_009646197.1:g.154612C>G, NM_006991.5:c.104C>G, NM_006991.4:c.104C>G, NM_006991.3:c.104C>G, NM_001024855.3:c.104C>G, NM_001024855.2:c.104C>G, NM_001024855.1:c.104C>G, NM_001323295.2:c.-639C>G, NM_001323295.1:c.-639C>G, NM_001351733.2:c.104C>G, NM_001351733.1:c.104C>G, NM_001351732.2:c.104C>G, NM_001351732.1:c.104C>G, NM_001323293.2:c.104C>G, NM_001323293.1:c.104C>G, NM_001323296.2:c.-444C>G, NM_001323296.1:c.-444C>G, NR_147691.2:n.338C>G, NR_147691.1:n.452C>G, NR_136582.2:n.293C>G, NR_136582.1:n.310C>G, NM_001351735.2:c.104C>G, NM_001351735.1:c.104C>G, NM_001351734.2:c.104C>G, NM_001351734.1:c.104C>G, NM_001323294.2:c.104C>G, NM_001323294.1:c.104C>G, NR_147692.2:n.338C>G, NR_147692.1:n.452C>G, NP_008922.1:p.Ser35Cys, NP_001020026.1:p.Ser35Cys, NP_001338662.1:p.Ser35Cys, NP_001338661.1:p.Ser35Cys, NP_001310222.1:p.Ser35Cys, NP_001338664.1:p.Ser35Cys, NP_001338663.1:p.Ser35Cys, NP_001310223.1:p.Ser35Cys

                  9.

                  rs1465966464 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    3:44629532 (GRCh38)
                    3:44671024 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:44629531:A:
                    Gene:
                    ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.44629532del, NC_000003.11:g.44671024del, NW_009646197.1:g.154886del, NM_006991.5:c.378del, NM_006991.4:c.378del, NM_006991.3:c.378del, NM_001024855.3:c.378del, NM_001024855.2:c.378del, NM_001024855.1:c.378del, NM_001323295.2:c.-365del, NM_001323295.1:c.-365del, NM_001351733.2:c.378del, NM_001351733.1:c.378del, NM_001351732.2:c.378del, NM_001351732.1:c.378del, NM_001323293.2:c.378del, NM_001323293.1:c.378del, NM_001323296.2:c.-170del, NM_001323296.1:c.-170del, NR_147691.2:n.612del, NR_147691.1:n.726del, NR_136582.2:n.567del, NR_136582.1:n.584del, NM_001351735.2:c.378del, NM_001351735.1:c.378del, NM_001351734.2:c.378del, NM_001351734.1:c.378del, NM_001323294.2:c.378del, NM_001323294.1:c.378del, NR_147692.2:n.612del, NR_147692.1:n.726del, NP_008922.1:p.Pro127fs, NP_001020026.1:p.Pro127fs, NP_001338662.1:p.Pro127fs, NP_001338661.1:p.Pro127fs, NP_001310222.1:p.Pro127fs, NP_001338664.1:p.Pro127fs, NP_001338663.1:p.Pro127fs, NP_001310223.1:p.Pro127fs

                    10.

                    rs1462278547 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:44632511 (GRCh38)
                      3:44674003 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:44632510:T:C
                      Gene:
                      ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                      HGVS:

                      11.

                      rs1458528807 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        3:44629491 (GRCh38)
                        3:44670983 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:44629490:G:T
                        Gene:
                        ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,intron_variant
                        HGVS:
                        NC_000003.12:g.44629491G>T, NC_000003.11:g.44670983G>T, NW_009646197.1:g.154845G>T, NM_006991.5:c.337G>T, NM_006991.4:c.337G>T, NM_006991.3:c.337G>T, NM_001024855.3:c.337G>T, NM_001024855.2:c.337G>T, NM_001024855.1:c.337G>T, NM_001323295.2:c.-406G>T, NM_001323295.1:c.-406G>T, NM_001351733.2:c.337G>T, NM_001351733.1:c.337G>T, NM_001351732.2:c.337G>T, NM_001351732.1:c.337G>T, NM_001323293.2:c.337G>T, NM_001323293.1:c.337G>T, NM_001323296.2:c.-211G>T, NM_001323296.1:c.-211G>T, NR_147691.2:n.571G>T, NR_147691.1:n.685G>T, NR_136582.2:n.526G>T, NR_136582.1:n.543G>T, NM_001351735.2:c.337G>T, NM_001351735.1:c.337G>T, NM_001351734.2:c.337G>T, NM_001351734.1:c.337G>T, NM_001323294.2:c.337G>T, NM_001323294.1:c.337G>T, NR_147692.2:n.571G>T, NR_147692.1:n.685G>T, NP_008922.1:p.Ala113Ser, NP_001020026.1:p.Ala113Ser, NP_001338662.1:p.Ala113Ser, NP_001338661.1:p.Ala113Ser, NP_001310222.1:p.Ala113Ser, NP_001338664.1:p.Ala113Ser, NP_001338663.1:p.Ala113Ser, NP_001310223.1:p.Ala113Ser

                        12.

                        rs1450616496 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:44629392 (GRCh38)
                          3:44670884 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:44629391:C:T
                          Gene:
                          ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,stop_gained
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.44629392C>T, NC_000003.11:g.44670884C>T, NW_009646197.1:g.154746C>T, NM_006991.5:c.238C>T, NM_006991.4:c.238C>T, NM_006991.3:c.238C>T, NM_001024855.3:c.238C>T, NM_001024855.2:c.238C>T, NM_001024855.1:c.238C>T, NM_001323295.2:c.-505C>T, NM_001323295.1:c.-505C>T, NM_001351733.2:c.238C>T, NM_001351733.1:c.238C>T, NM_001351732.2:c.238C>T, NM_001351732.1:c.238C>T, NM_001323293.2:c.238C>T, NM_001323293.1:c.238C>T, NM_001323296.2:c.-310C>T, NM_001323296.1:c.-310C>T, NR_147691.2:n.472C>T, NR_147691.1:n.586C>T, NR_136582.2:n.427C>T, NR_136582.1:n.444C>T, NM_001351735.2:c.238C>T, NM_001351735.1:c.238C>T, NM_001351734.2:c.238C>T, NM_001351734.1:c.238C>T, NM_001323294.2:c.238C>T, NM_001323294.1:c.238C>T, NR_147692.2:n.472C>T, NR_147692.1:n.586C>T, NP_008922.1:p.Gln80Ter, NP_001020026.1:p.Gln80Ter, NP_001338662.1:p.Gln80Ter, NP_001338661.1:p.Gln80Ter, NP_001310222.1:p.Gln80Ter, NP_001338664.1:p.Gln80Ter, NP_001338663.1:p.Gln80Ter, NP_001310223.1:p.Gln80Ter

                          13.

                          rs1447207618 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            3:44629451 (GRCh38)
                            3:44670943 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:44629450:G:C
                            Gene:
                            ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                            Functional Consequence:
                            synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1442772779 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              3:44629182 (GRCh38)
                              3:44670674 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:44629181:G:C,NC_000003.12:44629181:G:T
                              Gene:
                              ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.44629182G>C, NC_000003.12:g.44629182G>T, NC_000003.11:g.44670674G>C, NC_000003.11:g.44670674G>T, NW_009646197.1:g.154536G>C, NW_009646197.1:g.154536G>T, NM_006991.5:c.28G>C, NM_006991.5:c.28G>T, NM_006991.4:c.28G>C, NM_006991.4:c.28G>T, NM_006991.3:c.28G>C, NM_006991.3:c.28G>T, NM_001024855.3:c.28G>C, NM_001024855.3:c.28G>T, NM_001024855.2:c.28G>C, NM_001024855.2:c.28G>T, NM_001024855.1:c.28G>C, NM_001024855.1:c.28G>T, NM_001323295.2:c.-715G>C, NM_001323295.2:c.-715G>T, NM_001323295.1:c.-715G>C, NM_001323295.1:c.-715G>T, NR_147692.2:n.262G>C, NR_147692.2:n.262G>T, NR_147692.1:n.376G>C, NR_147692.1:n.376G>T, NM_001351733.2:c.28G>C, NM_001351733.2:c.28G>T, NM_001351733.1:c.28G>C, NM_001351733.1:c.28G>T, NM_001351732.2:c.28G>C, NM_001351732.2:c.28G>T, NM_001351732.1:c.28G>C, NM_001351732.1:c.28G>T, NM_001323293.2:c.28G>C, NM_001323293.2:c.28G>T, NM_001323293.1:c.28G>C, NM_001323293.1:c.28G>T, NM_001323296.2:c.-520G>C, NM_001323296.2:c.-520G>T, NM_001323296.1:c.-520G>C, NM_001323296.1:c.-520G>T, NR_147691.2:n.262G>C, NR_147691.2:n.262G>T, NR_147691.1:n.376G>C, NR_147691.1:n.376G>T, NR_136582.2:n.217G>C, NR_136582.2:n.217G>T, NR_136582.1:n.234G>C, NR_136582.1:n.234G>T, NM_001351735.2:c.28G>C, NM_001351735.2:c.28G>T, NM_001351735.1:c.28G>C, NM_001351735.1:c.28G>T, NM_001351734.2:c.28G>C, NM_001351734.2:c.28G>T, NM_001351734.1:c.28G>C, NM_001351734.1:c.28G>T, NM_001323294.2:c.28G>C, NM_001323294.2:c.28G>T, NM_001323294.1:c.28G>C, NM_001323294.1:c.28G>T, NP_008922.1:p.Ala10Pro, NP_008922.1:p.Ala10Ser, NP_001020026.1:p.Ala10Pro, NP_001020026.1:p.Ala10Ser, NP_001338662.1:p.Ala10Pro, NP_001338662.1:p.Ala10Ser, NP_001338661.1:p.Ala10Pro, NP_001338661.1:p.Ala10Ser, NP_001310222.1:p.Ala10Pro, NP_001310222.1:p.Ala10Ser, NP_001338664.1:p.Ala10Pro, NP_001338664.1:p.Ala10Ser, NP_001338663.1:p.Ala10Pro, NP_001338663.1:p.Ala10Ser, NP_001310223.1:p.Ala10Pro, NP_001310223.1:p.Ala10Ser

                              15.

                              rs1440719907 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                3:44631097 (GRCh38)
                                3:44672589 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:44631096:G:C
                                Gene:
                                ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.44631097G>C, NC_000003.11:g.44672589G>C, NW_009646197.1:g.156451G>C, NM_006991.5:c.426G>C, NM_006991.4:c.426G>C, NM_006991.3:c.426G>C, NM_001024855.3:c.426G>C, NM_001024855.2:c.426G>C, NM_001024855.1:c.426G>C, NM_001323295.2:c.-184G>C, NM_001323295.1:c.-184G>C, NM_001351733.2:c.426G>C, NM_001351733.1:c.426G>C, NM_001351732.2:c.426G>C, NM_001351732.1:c.426G>C, NM_001323293.2:c.426G>C, NM_001323293.1:c.426G>C, NM_001323296.2:c.-122G>C, NM_001323296.1:c.-122G>C, NR_147691.2:n.793G>C, NR_147691.1:n.907G>C, NR_136582.2:n.748G>C, NR_136582.1:n.765G>C, NM_001351735.2:c.426G>C, NM_001351735.1:c.426G>C, NM_001351734.2:c.426G>C, NM_001351734.1:c.426G>C, NM_001323294.2:c.426G>C, NM_001323294.1:c.426G>C, NR_147692.2:n.793G>C, NR_147692.1:n.907G>C, NP_008922.1:p.Gln142His, NP_001020026.1:p.Gln142His, NP_001338662.1:p.Gln142His, NP_001338661.1:p.Gln142His, NP_001310222.1:p.Gln142His, NP_001338664.1:p.Gln142His, NP_001338663.1:p.Gln142His, NP_001310223.1:p.Gln142His

                                16.

                                rs1438911637 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:44629445 (GRCh38)
                                  3:44670937 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:44629444:G:A
                                  Gene:
                                  ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1436274552 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    3:44629280 (GRCh38)
                                    3:44670772 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:44629279:C:A
                                    Gene:
                                    ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.44629280C>A, NC_000003.11:g.44670772C>A, NW_009646197.1:g.154634C>A, NM_006991.5:c.126C>A, NM_006991.4:c.126C>A, NM_006991.3:c.126C>A, NM_001024855.3:c.126C>A, NM_001024855.2:c.126C>A, NM_001024855.1:c.126C>A, NM_001323295.2:c.-617C>A, NM_001323295.1:c.-617C>A, NM_001351733.2:c.126C>A, NM_001351733.1:c.126C>A, NM_001351732.2:c.126C>A, NM_001351732.1:c.126C>A, NM_001323293.2:c.126C>A, NM_001323293.1:c.126C>A, NM_001323296.2:c.-422C>A, NM_001323296.1:c.-422C>A, NR_147691.2:n.360C>A, NR_147691.1:n.474C>A, NR_136582.2:n.315C>A, NR_136582.1:n.332C>A, NM_001351735.2:c.126C>A, NM_001351735.1:c.126C>A, NM_001351734.2:c.126C>A, NM_001351734.1:c.126C>A, NM_001323294.2:c.126C>A, NM_001323294.1:c.126C>A, NR_147692.2:n.360C>A, NR_147692.1:n.474C>A, NP_008922.1:p.His42Gln, NP_001020026.1:p.His42Gln, NP_001338662.1:p.His42Gln, NP_001338661.1:p.His42Gln, NP_001310222.1:p.His42Gln, NP_001338664.1:p.His42Gln, NP_001338663.1:p.His42Gln, NP_001310223.1:p.His42Gln

                                    18.

                                    rs1430757421 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:44631213 (GRCh38)
                                      3:44672705 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:44631212:C:T
                                      Gene:
                                      ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,intron_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_000003.12:g.44631213C>T, NC_000003.11:g.44672705C>T, NW_009646197.1:g.156567C>T, NM_006991.5:c.542C>T, NM_006991.4:c.542C>T, NM_006991.3:c.542C>T, NM_001024855.3:c.542C>T, NM_001024855.2:c.542C>T, NM_001024855.1:c.542C>T, NM_001323295.2:c.-68C>T, NM_001323295.1:c.-68C>T, NM_001351733.2:c.542C>T, NM_001351733.1:c.542C>T, NM_001351732.2:c.542C>T, NM_001351732.1:c.542C>T, NM_001323293.2:c.542C>T, NM_001323293.1:c.542C>T, NM_001323296.2:c.-6C>T, NM_001323296.1:c.-6C>T, NR_147691.2:n.909C>T, NR_147691.1:n.1023C>T, NR_136582.2:n.864C>T, NR_136582.1:n.881C>T, NM_001351735.2:c.542C>T, NM_001351735.1:c.542C>T, NM_001351734.2:c.542C>T, NM_001351734.1:c.542C>T, NM_001323294.2:c.542C>T, NM_001323294.1:c.542C>T, NR_147692.2:n.909C>T, NR_147692.1:n.1023C>T, NP_008922.1:p.Pro181Leu, NP_001020026.1:p.Pro181Leu, NP_001338662.1:p.Pro181Leu, NP_001338661.1:p.Pro181Leu, NP_001310222.1:p.Pro181Leu, NP_001338664.1:p.Pro181Leu, NP_001338663.1:p.Pro181Leu, NP_001310223.1:p.Pro181Leu

                                      19.

                                      rs1423029251 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:44632154 (GRCh38)
                                        3:44673646 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:44632153:A:G
                                        Gene:
                                        ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1422517755 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          3:44629213 (GRCh38)
                                          3:44670705 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:44629212:A:C,NC_000003.12:44629212:A:G
                                          Gene:
                                          ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000031/1 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000003.12:g.44629213A>C, NC_000003.12:g.44629213A>G, NC_000003.11:g.44670705A>C, NC_000003.11:g.44670705A>G, NW_009646197.1:g.154567A>C, NW_009646197.1:g.154567A>G, NM_006991.5:c.59A>C, NM_006991.5:c.59A>G, NM_006991.4:c.59A>C, NM_006991.4:c.59A>G, NM_006991.3:c.59A>C, NM_006991.3:c.59A>G, NM_001024855.3:c.59A>C, NM_001024855.3:c.59A>G, NM_001024855.2:c.59A>C, NM_001024855.2:c.59A>G, NM_001024855.1:c.59A>C, NM_001024855.1:c.59A>G, NM_001323295.2:c.-684A>C, NM_001323295.2:c.-684A>G, NM_001323295.1:c.-684A>C, NM_001323295.1:c.-684A>G, NR_147692.2:n.293A>C, NR_147692.2:n.293A>G, NR_147692.1:n.407A>C, NR_147692.1:n.407A>G, NM_001351733.2:c.59A>C, NM_001351733.2:c.59A>G, NM_001351733.1:c.59A>C, NM_001351733.1:c.59A>G, NM_001351732.2:c.59A>C, NM_001351732.2:c.59A>G, NM_001351732.1:c.59A>C, NM_001351732.1:c.59A>G, NM_001323293.2:c.59A>C, NM_001323293.2:c.59A>G, NM_001323293.1:c.59A>C, NM_001323293.1:c.59A>G, NM_001323296.2:c.-489A>C, NM_001323296.2:c.-489A>G, NM_001323296.1:c.-489A>C, NM_001323296.1:c.-489A>G, NR_147691.2:n.293A>C, NR_147691.2:n.293A>G, NR_147691.1:n.407A>C, NR_147691.1:n.407A>G, NR_136582.2:n.248A>C, NR_136582.2:n.248A>G, NR_136582.1:n.265A>C, NR_136582.1:n.265A>G, NM_001351735.2:c.59A>C, NM_001351735.2:c.59A>G, NM_001351735.1:c.59A>C, NM_001351735.1:c.59A>G, NM_001351734.2:c.59A>C, NM_001351734.2:c.59A>G, NM_001351734.1:c.59A>C, NM_001351734.1:c.59A>G, NM_001323294.2:c.59A>C, NM_001323294.2:c.59A>G, NM_001323294.1:c.59A>C, NM_001323294.1:c.59A>G, NP_008922.1:p.Lys20Thr, NP_008922.1:p.Lys20Arg, NP_001020026.1:p.Lys20Thr, NP_001020026.1:p.Lys20Arg, NP_001338662.1:p.Lys20Thr, NP_001338662.1:p.Lys20Arg, NP_001338661.1:p.Lys20Thr, NP_001338661.1:p.Lys20Arg, NP_001310222.1:p.Lys20Thr, NP_001310222.1:p.Lys20Arg, NP_001338664.1:p.Lys20Thr, NP_001338664.1:p.Lys20Arg, NP_001338663.1:p.Lys20Thr, NP_001338663.1:p.Lys20Arg, NP_001310223.1:p.Lys20Thr, NP_001310223.1:p.Lys20Arg

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