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Items: 1 to 20 of 830

1.

rs1490366353 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    10:38055985 (GRCh38)
    10:38344913 (GRCh37)
    Canonical SPDI:
    NC_000010.11:38055984:A:G
    Gene:
    ZNF33A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    NC_000010.11:g.38055985A>G, NC_000010.10:g.38344913A>G, XM_011519650.3:c.1861A>G, XM_011519650.2:c.1861A>G, XM_011519650.1:c.1861A>G, XM_011519651.3:c.1858A>G, XM_011519651.2:c.1858A>G, XM_011519651.1:c.1858A>G, NM_006974.3:c.1858A>G, NM_006974.2:c.1858A>G, XM_011519654.3:c.1624A>G, XM_011519654.2:c.1624A>G, XM_011519654.1:c.1624A>G, NM_001278171.2:c.1525A>G, NM_001278171.1:c.1525A>G, NM_001278179.2:c.1525A>G, NM_001278179.1:c.1525A>G, NM_001324177.2:c.1525A>G, NM_001324177.1:c.1525A>G, NM_001278176.2:c.1732A>G, NM_001278176.1:c.1732A>G, NM_001278174.2:c.1525A>G, NM_001278174.1:c.1525A>G, NM_001278175.2:c.1627A>G, NM_001278175.1:c.1627A>G, NM_001324175.2:c.1525A>G, NM_001324175.1:c.1525A>G, XM_017016617.2:c.1882A>G, XM_017016617.1:c.1882A>G, NM_006954.2:c.1861A>G, NM_006954.1:c.1861A>G, NM_001278177.2:c.1924A>G, NM_001278177.1:c.1924A>G, NM_001324176.2:c.1525A>G, NM_001324176.1:c.1525A>G, NM_001324178.2:c.1882A>G, NM_001324178.1:c.1882A>G, NM_001278170.2:c.1879A>G, NM_001278170.1:c.1879A>G, NM_001278173.1:c.1915A>G, NM_001278178.1:c.1525A>G, XP_011517952.1:p.Lys621Glu, XP_011517953.1:p.Lys620Glu, NP_008905.1:p.Lys620Glu, XP_011517956.1:p.Lys542Glu, NP_001265100.1:p.Lys509Glu, NP_001265108.1:p.Lys509Glu, NP_001311106.1:p.Lys509Glu, NP_001265105.1:p.Lys578Glu, NP_001265103.1:p.Lys509Glu, NP_001265104.1:p.Lys543Glu, NP_001311104.1:p.Lys509Glu, XP_016872106.1:p.Lys628Glu, NP_008885.1:p.Lys621Glu, NP_001265106.1:p.Lys642Glu, NP_001311105.1:p.Lys509Glu, NP_001311107.1:p.Lys628Glu, NP_001265099.1:p.Lys627Glu, NP_001265102.1:p.Lys639Glu, NP_001265107.1:p.Lys509Glu

    2.

    rs1490252141 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      10:38055411 (GRCh38)
      10:38344339 (GRCh37)
      Canonical SPDI:
      NC_000010.11:38055410:T:A,NC_000010.11:38055410:T:C
      Gene:
      ZNF33A (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000010.11:g.38055411T>A, NC_000010.11:g.38055411T>C, NC_000010.10:g.38344339T>A, NC_000010.10:g.38344339T>C, XM_011519650.3:c.1287T>A, XM_011519650.3:c.1287T>C, XM_011519650.2:c.1287T>A, XM_011519650.2:c.1287T>C, XM_011519650.1:c.1287T>A, XM_011519650.1:c.1287T>C, XM_011519651.3:c.1284T>A, XM_011519651.3:c.1284T>C, XM_011519651.2:c.1284T>A, XM_011519651.2:c.1284T>C, XM_011519651.1:c.1284T>A, XM_011519651.1:c.1284T>C, NM_006974.3:c.1284T>A, NM_006974.3:c.1284T>C, NM_006974.2:c.1284T>A, NM_006974.2:c.1284T>C, XM_011519654.3:c.1050T>A, XM_011519654.3:c.1050T>C, XM_011519654.2:c.1050T>A, XM_011519654.2:c.1050T>C, XM_011519654.1:c.1050T>A, XM_011519654.1:c.1050T>C, NM_001278171.2:c.951T>A, NM_001278171.2:c.951T>C, NM_001278171.1:c.951T>A, NM_001278171.1:c.951T>C, NM_001278179.2:c.951T>A, NM_001278179.2:c.951T>C, NM_001278179.1:c.951T>A, NM_001278179.1:c.951T>C, NM_001324177.2:c.951T>A, NM_001324177.2:c.951T>C, NM_001324177.1:c.951T>A, NM_001324177.1:c.951T>C, NM_001278176.2:c.1158T>A, NM_001278176.2:c.1158T>C, NM_001278176.1:c.1158T>A, NM_001278176.1:c.1158T>C, NM_001278174.2:c.951T>A, NM_001278174.2:c.951T>C, NM_001278174.1:c.951T>A, NM_001278174.1:c.951T>C, NM_001278175.2:c.1053T>A, NM_001278175.2:c.1053T>C, NM_001278175.1:c.1053T>A, NM_001278175.1:c.1053T>C, NM_001324175.2:c.951T>A, NM_001324175.2:c.951T>C, NM_001324175.1:c.951T>A, NM_001324175.1:c.951T>C, XM_017016617.2:c.1308T>A, XM_017016617.2:c.1308T>C, XM_017016617.1:c.1308T>A, XM_017016617.1:c.1308T>C, NM_006954.2:c.1287T>A, NM_006954.2:c.1287T>C, NM_006954.1:c.1287T>A, NM_006954.1:c.1287T>C, NM_001278177.2:c.1350T>A, NM_001278177.2:c.1350T>C, NM_001278177.1:c.1350T>A, NM_001278177.1:c.1350T>C, NM_001324176.2:c.951T>A, NM_001324176.2:c.951T>C, NM_001324176.1:c.951T>A, NM_001324176.1:c.951T>C, NM_001324178.2:c.1308T>A, NM_001324178.2:c.1308T>C, NM_001324178.1:c.1308T>A, NM_001324178.1:c.1308T>C, NM_001278170.2:c.1305T>A, NM_001278170.2:c.1305T>C, NM_001278170.1:c.1305T>A, NM_001278170.1:c.1305T>C, NM_001278173.1:c.1341T>A, NM_001278173.1:c.1341T>C, NM_001278178.1:c.951T>A, NM_001278178.1:c.951T>C

      3.

      rs1489839187 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:38054705 (GRCh38)
        10:38343633 (GRCh37)
        Canonical SPDI:
        NC_000010.11:38054704:T:C
        Gene:
        ZNF33A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.38054705T>C, NC_000010.10:g.38343633T>C, XM_011519650.3:c.581T>C, XM_011519650.2:c.581T>C, XM_011519650.1:c.581T>C, XM_011519651.3:c.578T>C, XM_011519651.2:c.578T>C, XM_011519651.1:c.578T>C, NM_006974.3:c.578T>C, NM_006974.2:c.578T>C, XM_011519654.3:c.344T>C, XM_011519654.2:c.344T>C, XM_011519654.1:c.344T>C, NM_001278171.2:c.245T>C, NM_001278171.1:c.245T>C, NM_001278179.2:c.245T>C, NM_001278179.1:c.245T>C, NM_001324177.2:c.245T>C, NM_001324177.1:c.245T>C, NM_001278176.2:c.452T>C, NM_001278176.1:c.452T>C, NM_001278174.2:c.245T>C, NM_001278174.1:c.245T>C, NM_001278175.2:c.347T>C, NM_001278175.1:c.347T>C, NM_001324175.2:c.245T>C, NM_001324175.1:c.245T>C, XM_017016617.2:c.602T>C, XM_017016617.1:c.602T>C, NM_006954.2:c.581T>C, NM_006954.1:c.581T>C, NM_001278177.2:c.644T>C, NM_001278177.1:c.644T>C, NM_001324176.2:c.245T>C, NM_001324176.1:c.245T>C, NM_001324178.2:c.602T>C, NM_001324178.1:c.602T>C, NM_001278170.2:c.599T>C, NM_001278170.1:c.599T>C, NM_001278173.1:c.635T>C, NM_001278178.1:c.245T>C, XP_011517952.1:p.Leu194Ser, XP_011517953.1:p.Leu193Ser, NP_008905.1:p.Leu193Ser, XP_011517956.1:p.Leu115Ser, NP_001265100.1:p.Leu82Ser, NP_001265108.1:p.Leu82Ser, NP_001311106.1:p.Leu82Ser, NP_001265105.1:p.Leu151Ser, NP_001265103.1:p.Leu82Ser, NP_001265104.1:p.Leu116Ser, NP_001311104.1:p.Leu82Ser, XP_016872106.1:p.Leu201Ser, NP_008885.1:p.Leu194Ser, NP_001265106.1:p.Leu215Ser, NP_001311105.1:p.Leu82Ser, NP_001311107.1:p.Leu201Ser, NP_001265099.1:p.Leu200Ser, NP_001265102.1:p.Leu212Ser, NP_001265107.1:p.Leu82Ser

        4.

        rs1488339418 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:38056436 (GRCh38)
          10:38345364 (GRCh37)
          Canonical SPDI:
          NC_000010.11:38056435:A:G
          Gene:
          ZNF33A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.38056436A>G, NC_000010.10:g.38345364A>G, XM_011519650.3:c.2312A>G, XM_011519650.2:c.2312A>G, XM_011519650.1:c.2312A>G, XM_011519651.3:c.2309A>G, XM_011519651.2:c.2309A>G, XM_011519651.1:c.2309A>G, NM_006974.3:c.2309A>G, NM_006974.2:c.2309A>G, XM_011519654.3:c.2075A>G, XM_011519654.2:c.2075A>G, XM_011519654.1:c.2075A>G, NM_001278171.2:c.1976A>G, NM_001278171.1:c.1976A>G, NM_001278179.2:c.1976A>G, NM_001278179.1:c.1976A>G, NM_001324177.2:c.1976A>G, NM_001324177.1:c.1976A>G, NM_001278176.2:c.2183A>G, NM_001278176.1:c.2183A>G, NM_001278174.2:c.1976A>G, NM_001278174.1:c.1976A>G, NM_001278175.2:c.2078A>G, NM_001278175.1:c.2078A>G, NM_001324175.2:c.1976A>G, NM_001324175.1:c.1976A>G, XM_017016617.2:c.2333A>G, XM_017016617.1:c.2333A>G, NM_006954.2:c.2312A>G, NM_006954.1:c.2312A>G, NM_001278177.2:c.2375A>G, NM_001278177.1:c.2375A>G, NM_001324176.2:c.1976A>G, NM_001324176.1:c.1976A>G, NM_001324178.2:c.2333A>G, NM_001324178.1:c.2333A>G, NM_001278170.2:c.2330A>G, NM_001278170.1:c.2330A>G, NM_001278173.1:c.2366A>G, NM_001278178.1:c.1976A>G, XP_011517952.1:p.His771Arg, XP_011517953.1:p.His770Arg, NP_008905.1:p.His770Arg, XP_011517956.1:p.His692Arg, NP_001265100.1:p.His659Arg, NP_001265108.1:p.His659Arg, NP_001311106.1:p.His659Arg, NP_001265105.1:p.His728Arg, NP_001265103.1:p.His659Arg, NP_001265104.1:p.His693Arg, NP_001311104.1:p.His659Arg, XP_016872106.1:p.His778Arg, NP_008885.1:p.His771Arg, NP_001265106.1:p.His792Arg, NP_001311105.1:p.His659Arg, NP_001311107.1:p.His778Arg, NP_001265099.1:p.His777Arg, NP_001265102.1:p.His789Arg, NP_001265107.1:p.His659Arg

          5.

          rs1487558182 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            10:38055730 (GRCh38)
            10:38344658 (GRCh37)
            Canonical SPDI:
            NC_000010.11:38055729:T:A
            Gene:
            ZNF33A (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_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_000010.11:g.38055730T>A, NC_000010.10:g.38344658T>A, XM_011519650.3:c.1606T>A, XM_011519650.2:c.1606T>A, XM_011519650.1:c.1606T>A, XM_011519651.3:c.1603T>A, XM_011519651.2:c.1603T>A, XM_011519651.1:c.1603T>A, NM_006974.3:c.1603T>A, NM_006974.2:c.1603T>A, XM_011519654.3:c.1369T>A, XM_011519654.2:c.1369T>A, XM_011519654.1:c.1369T>A, NM_001278171.2:c.1270T>A, NM_001278171.1:c.1270T>A, NM_001278179.2:c.1270T>A, NM_001278179.1:c.1270T>A, NM_001324177.2:c.1270T>A, NM_001324177.1:c.1270T>A, NM_001278176.2:c.1477T>A, NM_001278176.1:c.1477T>A, NM_001278174.2:c.1270T>A, NM_001278174.1:c.1270T>A, NM_001278175.2:c.1372T>A, NM_001278175.1:c.1372T>A, NM_001324175.2:c.1270T>A, NM_001324175.1:c.1270T>A, XM_017016617.2:c.1627T>A, XM_017016617.1:c.1627T>A, NM_006954.2:c.1606T>A, NM_006954.1:c.1606T>A, NM_001278177.2:c.1669T>A, NM_001278177.1:c.1669T>A, NM_001324176.2:c.1270T>A, NM_001324176.1:c.1270T>A, NM_001324178.2:c.1627T>A, NM_001324178.1:c.1627T>A, NM_001278170.2:c.1624T>A, NM_001278170.1:c.1624T>A, NM_001278173.1:c.1660T>A, NM_001278178.1:c.1270T>A, XP_011517952.1:p.Leu536Met, XP_011517953.1:p.Leu535Met, NP_008905.1:p.Leu535Met, XP_011517956.1:p.Leu457Met, NP_001265100.1:p.Leu424Met, NP_001265108.1:p.Leu424Met, NP_001311106.1:p.Leu424Met, NP_001265105.1:p.Leu493Met, NP_001265103.1:p.Leu424Met, NP_001265104.1:p.Leu458Met, NP_001311104.1:p.Leu424Met, XP_016872106.1:p.Leu543Met, NP_008885.1:p.Leu536Met, NP_001265106.1:p.Leu557Met, NP_001311105.1:p.Leu424Met, NP_001311107.1:p.Leu543Met, NP_001265099.1:p.Leu542Met, NP_001265102.1:p.Leu554Met, NP_001265107.1:p.Leu424Met

            6.

            rs1487547397 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              10:38056384 (GRCh38)
              10:38345312 (GRCh37)
              Canonical SPDI:
              NC_000010.11:38056383:T:C
              Gene:
              ZNF33A (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              NC_000010.11:g.38056384T>C, NC_000010.10:g.38345312T>C, XM_011519650.3:c.2260T>C, XM_011519650.2:c.2260T>C, XM_011519650.1:c.2260T>C, XM_011519651.3:c.2257T>C, XM_011519651.2:c.2257T>C, XM_011519651.1:c.2257T>C, NM_006974.3:c.2257T>C, NM_006974.2:c.2257T>C, XM_011519654.3:c.2023T>C, XM_011519654.2:c.2023T>C, XM_011519654.1:c.2023T>C, NM_001278171.2:c.1924T>C, NM_001278171.1:c.1924T>C, NM_001278179.2:c.1924T>C, NM_001278179.1:c.1924T>C, NM_001324177.2:c.1924T>C, NM_001324177.1:c.1924T>C, NM_001278176.2:c.2131T>C, NM_001278176.1:c.2131T>C, NM_001278174.2:c.1924T>C, NM_001278174.1:c.1924T>C, NM_001278175.2:c.2026T>C, NM_001278175.1:c.2026T>C, NM_001324175.2:c.1924T>C, NM_001324175.1:c.1924T>C, XM_017016617.2:c.2281T>C, XM_017016617.1:c.2281T>C, NM_006954.2:c.2260T>C, NM_006954.1:c.2260T>C, NM_001278177.2:c.2323T>C, NM_001278177.1:c.2323T>C, NM_001324176.2:c.1924T>C, NM_001324176.1:c.1924T>C, NM_001324178.2:c.2281T>C, NM_001324178.1:c.2281T>C, NM_001278170.2:c.2278T>C, NM_001278170.1:c.2278T>C, NM_001278173.1:c.2314T>C, NM_001278178.1:c.1924T>C, XP_011517952.1:p.Cys754Arg, XP_011517953.1:p.Cys753Arg, NP_008905.1:p.Cys753Arg, XP_011517956.1:p.Cys675Arg, NP_001265100.1:p.Cys642Arg, NP_001265108.1:p.Cys642Arg, NP_001311106.1:p.Cys642Arg, NP_001265105.1:p.Cys711Arg, NP_001265103.1:p.Cys642Arg, NP_001265104.1:p.Cys676Arg, NP_001311104.1:p.Cys642Arg, XP_016872106.1:p.Cys761Arg, NP_008885.1:p.Cys754Arg, NP_001265106.1:p.Cys775Arg, NP_001311105.1:p.Cys642Arg, NP_001311107.1:p.Cys761Arg, NP_001265099.1:p.Cys760Arg, NP_001265102.1:p.Cys772Arg, NP_001265107.1:p.Cys642Arg

              7.

              rs1487377675 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                10:38054715 (GRCh38)
                10:38343643 (GRCh37)
                Canonical SPDI:
                NC_000010.11:38054714:G:C
                Gene:
                ZNF33A (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.38054715G>C, NC_000010.10:g.38343643G>C, XM_011519650.3:c.591G>C, XM_011519650.2:c.591G>C, XM_011519650.1:c.591G>C, XM_011519651.3:c.588G>C, XM_011519651.2:c.588G>C, XM_011519651.1:c.588G>C, NM_006974.3:c.588G>C, NM_006974.2:c.588G>C, XM_011519654.3:c.354G>C, XM_011519654.2:c.354G>C, XM_011519654.1:c.354G>C, NM_001278171.2:c.255G>C, NM_001278171.1:c.255G>C, NM_001278179.2:c.255G>C, NM_001278179.1:c.255G>C, NM_001324177.2:c.255G>C, NM_001324177.1:c.255G>C, NM_001278176.2:c.462G>C, NM_001278176.1:c.462G>C, NM_001278174.2:c.255G>C, NM_001278174.1:c.255G>C, NM_001278175.2:c.357G>C, NM_001278175.1:c.357G>C, NM_001324175.2:c.255G>C, NM_001324175.1:c.255G>C, XM_017016617.2:c.612G>C, XM_017016617.1:c.612G>C, NM_006954.2:c.591G>C, NM_006954.1:c.591G>C, NM_001278177.2:c.654G>C, NM_001278177.1:c.654G>C, NM_001324176.2:c.255G>C, NM_001324176.1:c.255G>C, NM_001324178.2:c.612G>C, NM_001324178.1:c.612G>C, NM_001278170.2:c.609G>C, NM_001278170.1:c.609G>C, NM_001278173.1:c.645G>C, NM_001278178.1:c.255G>C, XP_011517952.1:p.Arg197Ser, XP_011517953.1:p.Arg196Ser, NP_008905.1:p.Arg196Ser, XP_011517956.1:p.Arg118Ser, NP_001265100.1:p.Arg85Ser, NP_001265108.1:p.Arg85Ser, NP_001311106.1:p.Arg85Ser, NP_001265105.1:p.Arg154Ser, NP_001265103.1:p.Arg85Ser, NP_001265104.1:p.Arg119Ser, NP_001311104.1:p.Arg85Ser, XP_016872106.1:p.Arg204Ser, NP_008885.1:p.Arg197Ser, NP_001265106.1:p.Arg218Ser, NP_001311105.1:p.Arg85Ser, NP_001311107.1:p.Arg204Ser, NP_001265099.1:p.Arg203Ser, NP_001265102.1:p.Arg215Ser, NP_001265107.1:p.Arg85Ser

                8.

                rs1486642333 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:38054939 (GRCh38)
                  10:38343867 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:38054938:A:G
                  Gene:
                  ZNF33A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000111/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.38054939A>G, NC_000010.10:g.38343867A>G, XM_011519650.3:c.815A>G, XM_011519650.2:c.815A>G, XM_011519650.1:c.815A>G, XM_011519651.3:c.812A>G, XM_011519651.2:c.812A>G, XM_011519651.1:c.812A>G, NM_006974.3:c.812A>G, NM_006974.2:c.812A>G, XM_011519654.3:c.578A>G, XM_011519654.2:c.578A>G, XM_011519654.1:c.578A>G, NM_001278171.2:c.479A>G, NM_001278171.1:c.479A>G, NM_001278179.2:c.479A>G, NM_001278179.1:c.479A>G, NM_001324177.2:c.479A>G, NM_001324177.1:c.479A>G, NM_001278176.2:c.686A>G, NM_001278176.1:c.686A>G, NM_001278174.2:c.479A>G, NM_001278174.1:c.479A>G, NM_001278175.2:c.581A>G, NM_001278175.1:c.581A>G, NM_001324175.2:c.479A>G, NM_001324175.1:c.479A>G, XM_017016617.2:c.836A>G, XM_017016617.1:c.836A>G, NM_006954.2:c.815A>G, NM_006954.1:c.815A>G, NM_001278177.2:c.878A>G, NM_001278177.1:c.878A>G, NM_001324176.2:c.479A>G, NM_001324176.1:c.479A>G, NM_001324178.2:c.836A>G, NM_001324178.1:c.836A>G, NM_001278170.2:c.833A>G, NM_001278170.1:c.833A>G, NM_001278173.1:c.869A>G, NM_001278178.1:c.479A>G, XP_011517952.1:p.Asp272Gly, XP_011517953.1:p.Asp271Gly, NP_008905.1:p.Asp271Gly, XP_011517956.1:p.Asp193Gly, NP_001265100.1:p.Asp160Gly, NP_001265108.1:p.Asp160Gly, NP_001311106.1:p.Asp160Gly, NP_001265105.1:p.Asp229Gly, NP_001265103.1:p.Asp160Gly, NP_001265104.1:p.Asp194Gly, NP_001311104.1:p.Asp160Gly, XP_016872106.1:p.Asp279Gly, NP_008885.1:p.Asp272Gly, NP_001265106.1:p.Asp293Gly, NP_001311105.1:p.Asp160Gly, NP_001311107.1:p.Asp279Gly, NP_001265099.1:p.Asp278Gly, NP_001265102.1:p.Asp290Gly, NP_001265107.1:p.Asp160Gly

                  9.

                  rs1486591202 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:38055719 (GRCh38)
                    10:38344647 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:38055718:A:G
                    Gene:
                    ZNF33A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (GnomAD_exomes)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000010.11:g.38055719A>G, NC_000010.10:g.38344647A>G, XM_011519650.3:c.1595A>G, XM_011519650.2:c.1595A>G, XM_011519650.1:c.1595A>G, XM_011519651.3:c.1592A>G, XM_011519651.2:c.1592A>G, XM_011519651.1:c.1592A>G, NM_006974.3:c.1592A>G, NM_006974.2:c.1592A>G, XM_011519654.3:c.1358A>G, XM_011519654.2:c.1358A>G, XM_011519654.1:c.1358A>G, NM_001278171.2:c.1259A>G, NM_001278171.1:c.1259A>G, NM_001278179.2:c.1259A>G, NM_001278179.1:c.1259A>G, NM_001324177.2:c.1259A>G, NM_001324177.1:c.1259A>G, NM_001278176.2:c.1466A>G, NM_001278176.1:c.1466A>G, NM_001278174.2:c.1259A>G, NM_001278174.1:c.1259A>G, NM_001278175.2:c.1361A>G, NM_001278175.1:c.1361A>G, NM_001324175.2:c.1259A>G, NM_001324175.1:c.1259A>G, XM_017016617.2:c.1616A>G, XM_017016617.1:c.1616A>G, NM_006954.2:c.1595A>G, NM_006954.1:c.1595A>G, NM_001278177.2:c.1658A>G, NM_001278177.1:c.1658A>G, NM_001324176.2:c.1259A>G, NM_001324176.1:c.1259A>G, NM_001324178.2:c.1616A>G, NM_001324178.1:c.1616A>G, NM_001278170.2:c.1613A>G, NM_001278170.1:c.1613A>G, NM_001278173.1:c.1649A>G, NM_001278178.1:c.1259A>G, XP_011517952.1:p.Lys532Arg, XP_011517953.1:p.Lys531Arg, NP_008905.1:p.Lys531Arg, XP_011517956.1:p.Lys453Arg, NP_001265100.1:p.Lys420Arg, NP_001265108.1:p.Lys420Arg, NP_001311106.1:p.Lys420Arg, NP_001265105.1:p.Lys489Arg, NP_001265103.1:p.Lys420Arg, NP_001265104.1:p.Lys454Arg, NP_001311104.1:p.Lys420Arg, XP_016872106.1:p.Lys539Arg, NP_008885.1:p.Lys532Arg, NP_001265106.1:p.Lys553Arg, NP_001311105.1:p.Lys420Arg, NP_001311107.1:p.Lys539Arg, NP_001265099.1:p.Lys538Arg, NP_001265102.1:p.Lys550Arg, NP_001265107.1:p.Lys420Arg

                    10.

                    rs1485770515 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:38055820 (GRCh38)
                      10:38344748 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:38055819:T:C
                      Gene:
                      ZNF33A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000010.11:g.38055820T>C, NC_000010.10:g.38344748T>C, XM_011519650.3:c.1696T>C, XM_011519650.2:c.1696T>C, XM_011519650.1:c.1696T>C, XM_011519651.3:c.1693T>C, XM_011519651.2:c.1693T>C, XM_011519651.1:c.1693T>C, NM_006974.3:c.1693T>C, NM_006974.2:c.1693T>C, XM_011519654.3:c.1459T>C, XM_011519654.2:c.1459T>C, XM_011519654.1:c.1459T>C, NM_001278171.2:c.1360T>C, NM_001278171.1:c.1360T>C, NM_001278179.2:c.1360T>C, NM_001278179.1:c.1360T>C, NM_001324177.2:c.1360T>C, NM_001324177.1:c.1360T>C, NM_001278176.2:c.1567T>C, NM_001278176.1:c.1567T>C, NM_001278174.2:c.1360T>C, NM_001278174.1:c.1360T>C, NM_001278175.2:c.1462T>C, NM_001278175.1:c.1462T>C, NM_001324175.2:c.1360T>C, NM_001324175.1:c.1360T>C, XM_017016617.2:c.1717T>C, XM_017016617.1:c.1717T>C, NM_006954.2:c.1696T>C, NM_006954.1:c.1696T>C, NM_001278177.2:c.1759T>C, NM_001278177.1:c.1759T>C, NM_001324176.2:c.1360T>C, NM_001324176.1:c.1360T>C, NM_001324178.2:c.1717T>C, NM_001324178.1:c.1717T>C, NM_001278170.2:c.1714T>C, NM_001278170.1:c.1714T>C, NM_001278173.1:c.1750T>C, NM_001278178.1:c.1360T>C, XP_011517952.1:p.Ser566Pro, XP_011517953.1:p.Ser565Pro, NP_008905.1:p.Ser565Pro, XP_011517956.1:p.Ser487Pro, NP_001265100.1:p.Ser454Pro, NP_001265108.1:p.Ser454Pro, NP_001311106.1:p.Ser454Pro, NP_001265105.1:p.Ser523Pro, NP_001265103.1:p.Ser454Pro, NP_001265104.1:p.Ser488Pro, NP_001311104.1:p.Ser454Pro, XP_016872106.1:p.Ser573Pro, NP_008885.1:p.Ser566Pro, NP_001265106.1:p.Ser587Pro, NP_001311105.1:p.Ser454Pro, NP_001311107.1:p.Ser573Pro, NP_001265099.1:p.Ser572Pro, NP_001265102.1:p.Ser584Pro, NP_001265107.1:p.Ser454Pro

                      11.

                      rs1483076680 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:38016939 (GRCh38)
                        10:38305867 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:38016938:G:A
                        Gene:
                        ZNF33A (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,genic_upstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.38016939G>A, NC_000010.10:g.38305867G>A, XM_011519650.3:c.78G>A, XM_011519650.2:c.78G>A, XM_011519650.1:c.78G>A, XM_011519651.3:c.78G>A, XM_011519651.2:c.78G>A, XM_011519651.1:c.78G>A, NM_006974.3:c.78G>A, NM_006974.2:c.78G>A, NM_001278171.2:c.-382G>A, NM_001278171.1:c.-382G>A, NM_001278179.2:c.-379G>A, NM_001278179.1:c.-379G>A, NM_001324177.2:c.-339G>A, NM_001324177.1:c.-339G>A, NM_001278176.2:c.-132G>A, NM_001278176.1:c.-132G>A, NM_001278174.2:c.-334G>A, NM_001278174.1:c.-334G>A, NM_001278175.2:c.-221G>A, NM_001278175.1:c.-221G>A, NM_001324175.2:c.-331G>A, NM_001324175.1:c.-331G>A, XM_017016617.2:c.99G>A, XM_017016617.1:c.99G>A, NM_006954.2:c.78G>A, NM_006954.1:c.78G>A, NM_001278177.2:c.141G>A, NM_001278177.1:c.141G>A, NM_001324176.2:c.-261G>A, NM_001324176.1:c.-261G>A, NM_001324178.2:c.99G>A, NM_001324178.1:c.99G>A, NM_001278170.2:c.99G>A, NM_001278170.1:c.99G>A, NR_136709.2:n.231G>A, NR_136709.1:n.256G>A, NR_136710.2:n.231G>A, NR_136710.1:n.256G>A, NM_001278173.1:c.132G>A, NM_001278178.1:c.-264G>A, XP_011517952.1:p.Trp26Ter, XP_011517953.1:p.Trp26Ter, NP_008905.1:p.Trp26Ter, XP_016872106.1:p.Trp33Ter, NP_008885.1:p.Trp26Ter, NP_001265106.1:p.Trp47Ter, NP_001311107.1:p.Trp33Ter, NP_001265099.1:p.Trp33Ter, NP_001265102.1:p.Trp44Ter

                        12.

                        rs1482906155 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          10:38055935 (GRCh38)
                          10:38344863 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:38055934:C:
                          Gene:
                          ZNF33A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,frameshift_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.38055935del, NC_000010.10:g.38344863del, XM_011519650.3:c.1811del, XM_011519650.2:c.1811del, XM_011519650.1:c.1811del, XM_011519651.3:c.1808del, XM_011519651.2:c.1808del, XM_011519651.1:c.1808del, NM_006974.3:c.1808del, NM_006974.2:c.1808del, XM_011519654.3:c.1574del, XM_011519654.2:c.1574del, XM_011519654.1:c.1574del, NM_001278171.2:c.1475del, NM_001278171.1:c.1475del, NM_001278179.2:c.1475del, NM_001278179.1:c.1475del, NM_001324177.2:c.1475del, NM_001324177.1:c.1475del, NM_001278176.2:c.1682del, NM_001278176.1:c.1682del, NM_001278174.2:c.1475del, NM_001278174.1:c.1475del, NM_001278175.2:c.1577del, NM_001278175.1:c.1577del, NM_001324175.2:c.1475del, NM_001324175.1:c.1475del, XM_017016617.2:c.1832del, XM_017016617.1:c.1832del, NM_006954.2:c.1811del, NM_006954.1:c.1811del, NM_001278177.2:c.1874del, NM_001278177.1:c.1874del, NM_001324176.2:c.1475del, NM_001324176.1:c.1475del, NM_001324178.2:c.1832del, NM_001324178.1:c.1832del, NM_001278170.2:c.1829del, NM_001278170.1:c.1829del, NM_001278173.1:c.1865del, NM_001278178.1:c.1475del, XP_011517952.1:p.Thr604fs, XP_011517953.1:p.Thr603fs, NP_008905.1:p.Thr603fs, XP_011517956.1:p.Thr525fs, NP_001265100.1:p.Thr492fs, NP_001265108.1:p.Thr492fs, NP_001311106.1:p.Thr492fs, NP_001265105.1:p.Thr561fs, NP_001265103.1:p.Thr492fs, NP_001265104.1:p.Thr526fs, NP_001311104.1:p.Thr492fs, XP_016872106.1:p.Thr611fs, NP_008885.1:p.Thr604fs, NP_001265106.1:p.Thr625fs, NP_001311105.1:p.Thr492fs, NP_001311107.1:p.Thr611fs, NP_001265099.1:p.Thr610fs, NP_001265102.1:p.Thr622fs, NP_001265107.1:p.Thr492fs

                          13.

                          rs1481327959 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:38055275 (GRCh38)
                            10:38344203 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:38055274:C:T
                            Gene:
                            ZNF33A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.38055275C>T, NC_000010.10:g.38344203C>T, XM_011519650.3:c.1151C>T, XM_011519650.2:c.1151C>T, XM_011519650.1:c.1151C>T, XM_011519651.3:c.1148C>T, XM_011519651.2:c.1148C>T, XM_011519651.1:c.1148C>T, NM_006974.3:c.1148C>T, NM_006974.2:c.1148C>T, XM_011519654.3:c.914C>T, XM_011519654.2:c.914C>T, XM_011519654.1:c.914C>T, NM_001278171.2:c.815C>T, NM_001278171.1:c.815C>T, NM_001278179.2:c.815C>T, NM_001278179.1:c.815C>T, NM_001324177.2:c.815C>T, NM_001324177.1:c.815C>T, NM_001278176.2:c.1022C>T, NM_001278176.1:c.1022C>T, NM_001278174.2:c.815C>T, NM_001278174.1:c.815C>T, NM_001278175.2:c.917C>T, NM_001278175.1:c.917C>T, NM_001324175.2:c.815C>T, NM_001324175.1:c.815C>T, XM_017016617.2:c.1172C>T, XM_017016617.1:c.1172C>T, NM_006954.2:c.1151C>T, NM_006954.1:c.1151C>T, NM_001278177.2:c.1214C>T, NM_001278177.1:c.1214C>T, NM_001324176.2:c.815C>T, NM_001324176.1:c.815C>T, NM_001324178.2:c.1172C>T, NM_001324178.1:c.1172C>T, NM_001278170.2:c.1169C>T, NM_001278170.1:c.1169C>T, NM_001278173.1:c.1205C>T, NM_001278178.1:c.815C>T, XP_011517952.1:p.Pro384Leu, XP_011517953.1:p.Pro383Leu, NP_008905.1:p.Pro383Leu, XP_011517956.1:p.Pro305Leu, NP_001265100.1:p.Pro272Leu, NP_001265108.1:p.Pro272Leu, NP_001311106.1:p.Pro272Leu, NP_001265105.1:p.Pro341Leu, NP_001265103.1:p.Pro272Leu, NP_001265104.1:p.Pro306Leu, NP_001311104.1:p.Pro272Leu, XP_016872106.1:p.Pro391Leu, NP_008885.1:p.Pro384Leu, NP_001265106.1:p.Pro405Leu, NP_001311105.1:p.Pro272Leu, NP_001311107.1:p.Pro391Leu, NP_001265099.1:p.Pro390Leu, NP_001265102.1:p.Pro402Leu, NP_001265107.1:p.Pro272Leu

                            14.

                            rs1481100176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              10:38055864 (GRCh38)
                              10:38344792 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:38055863:C:A
                              Gene:
                              ZNF33A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00014/3 (ALFA)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.38055864C>A, NC_000010.10:g.38344792C>A, XM_011519650.3:c.1740C>A, XM_011519650.2:c.1740C>A, XM_011519650.1:c.1740C>A, XM_011519651.3:c.1737C>A, XM_011519651.2:c.1737C>A, XM_011519651.1:c.1737C>A, NM_006974.3:c.1737C>A, NM_006974.2:c.1737C>A, XM_011519654.3:c.1503C>A, XM_011519654.2:c.1503C>A, XM_011519654.1:c.1503C>A, NM_001278171.2:c.1404C>A, NM_001278171.1:c.1404C>A, NM_001278179.2:c.1404C>A, NM_001278179.1:c.1404C>A, NM_001324177.2:c.1404C>A, NM_001324177.1:c.1404C>A, NM_001278176.2:c.1611C>A, NM_001278176.1:c.1611C>A, NM_001278174.2:c.1404C>A, NM_001278174.1:c.1404C>A, NM_001278175.2:c.1506C>A, NM_001278175.1:c.1506C>A, NM_001324175.2:c.1404C>A, NM_001324175.1:c.1404C>A, XM_017016617.2:c.1761C>A, XM_017016617.1:c.1761C>A, NM_006954.2:c.1740C>A, NM_006954.1:c.1740C>A, NM_001278177.2:c.1803C>A, NM_001278177.1:c.1803C>A, NM_001324176.2:c.1404C>A, NM_001324176.1:c.1404C>A, NM_001324178.2:c.1761C>A, NM_001324178.1:c.1761C>A, NM_001278170.2:c.1758C>A, NM_001278170.1:c.1758C>A, NM_001278173.1:c.1794C>A, NM_001278178.1:c.1404C>A

                              15.

                              rs1480562047 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                10:38056151 (GRCh38)
                                10:38345080 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:38056151:AAAA:AAAAA
                                Gene:
                                ZNF33A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAA=0./0 (ALFA)
                                A=0.000015/4 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000010.11:g.38056155dup, NC_000010.10:g.38345083dup, XM_011519650.3:c.2031dup, XM_011519650.2:c.2031dup, XM_011519650.1:c.2031dup, XM_011519651.3:c.2028dup, XM_011519651.2:c.2028dup, XM_011519651.1:c.2028dup, NM_006974.3:c.2028dup, NM_006974.2:c.2028dup, XM_011519654.3:c.1794dup, XM_011519654.2:c.1794dup, XM_011519654.1:c.1794dup, NM_001278171.2:c.1695dup, NM_001278171.1:c.1695dup, NM_001278179.2:c.1695dup, NM_001278179.1:c.1695dup, NM_001324177.2:c.1695dup, NM_001324177.1:c.1695dup, NM_001278176.2:c.1902dup, NM_001278176.1:c.1902dup, NM_001278174.2:c.1695dup, NM_001278174.1:c.1695dup, NM_001278175.2:c.1797dup, NM_001278175.1:c.1797dup, NM_001324175.2:c.1695dup, NM_001324175.1:c.1695dup, XM_017016617.2:c.2052dup, XM_017016617.1:c.2052dup, NM_006954.2:c.2031dup, NM_006954.1:c.2031dup, NM_001278177.2:c.2094dup, NM_001278177.1:c.2094dup, NM_001324176.2:c.1695dup, NM_001324176.1:c.1695dup, NM_001324178.2:c.2052dup, NM_001324178.1:c.2052dup, NM_001278170.2:c.2049dup, NM_001278170.1:c.2049dup, NM_001278173.1:c.2085dup, NM_001278178.1:c.1695dup, XP_011517952.1:p.Ser678fs, XP_011517953.1:p.Ser677fs, NP_008905.1:p.Ser677fs, XP_011517956.1:p.Ser599fs, NP_001265100.1:p.Ser566fs, NP_001265108.1:p.Ser566fs, NP_001311106.1:p.Ser566fs, NP_001265105.1:p.Ser635fs, NP_001265103.1:p.Ser566fs, NP_001265104.1:p.Ser600fs, NP_001311104.1:p.Ser566fs, XP_016872106.1:p.Ser685fs, NP_008885.1:p.Ser678fs, NP_001265106.1:p.Ser699fs, NP_001311105.1:p.Ser566fs, NP_001311107.1:p.Ser685fs, NP_001265099.1:p.Ser684fs, NP_001265102.1:p.Ser696fs, NP_001265107.1:p.Ser566fs

                                16.

                                rs1478573333 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:38055981 (GRCh38)
                                  10:38344909 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:38055980:C:T
                                  Gene:
                                  ZNF33A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.38055981C>T, NC_000010.10:g.38344909C>T, XM_011519650.3:c.1857C>T, XM_011519650.2:c.1857C>T, XM_011519650.1:c.1857C>T, XM_011519651.3:c.1854C>T, XM_011519651.2:c.1854C>T, XM_011519651.1:c.1854C>T, NM_006974.3:c.1854C>T, NM_006974.2:c.1854C>T, XM_011519654.3:c.1620C>T, XM_011519654.2:c.1620C>T, XM_011519654.1:c.1620C>T, NM_001278171.2:c.1521C>T, NM_001278171.1:c.1521C>T, NM_001278179.2:c.1521C>T, NM_001278179.1:c.1521C>T, NM_001324177.2:c.1521C>T, NM_001324177.1:c.1521C>T, NM_001278176.2:c.1728C>T, NM_001278176.1:c.1728C>T, NM_001278174.2:c.1521C>T, NM_001278174.1:c.1521C>T, NM_001278175.2:c.1623C>T, NM_001278175.1:c.1623C>T, NM_001324175.2:c.1521C>T, NM_001324175.1:c.1521C>T, XM_017016617.2:c.1878C>T, XM_017016617.1:c.1878C>T, NM_006954.2:c.1857C>T, NM_006954.1:c.1857C>T, NM_001278177.2:c.1920C>T, NM_001278177.1:c.1920C>T, NM_001324176.2:c.1521C>T, NM_001324176.1:c.1521C>T, NM_001324178.2:c.1878C>T, NM_001324178.1:c.1878C>T, NM_001278170.2:c.1875C>T, NM_001278170.1:c.1875C>T, NM_001278173.1:c.1911C>T, NM_001278178.1:c.1521C>T

                                  17.

                                  rs1477830033 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:38055368 (GRCh38)
                                    10:38344296 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:38055367:G:A
                                    Gene:
                                    ZNF33A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.38055368G>A, NC_000010.10:g.38344296G>A, XM_011519650.3:c.1244G>A, XM_011519650.2:c.1244G>A, XM_011519650.1:c.1244G>A, XM_011519651.3:c.1241G>A, XM_011519651.2:c.1241G>A, XM_011519651.1:c.1241G>A, NM_006974.3:c.1241G>A, NM_006974.2:c.1241G>A, XM_011519654.3:c.1007G>A, XM_011519654.2:c.1007G>A, XM_011519654.1:c.1007G>A, NM_001278171.2:c.908G>A, NM_001278171.1:c.908G>A, NM_001278179.2:c.908G>A, NM_001278179.1:c.908G>A, NM_001324177.2:c.908G>A, NM_001324177.1:c.908G>A, NM_001278176.2:c.1115G>A, NM_001278176.1:c.1115G>A, NM_001278174.2:c.908G>A, NM_001278174.1:c.908G>A, NM_001278175.2:c.1010G>A, NM_001278175.1:c.1010G>A, NM_001324175.2:c.908G>A, NM_001324175.1:c.908G>A, XM_017016617.2:c.1265G>A, XM_017016617.1:c.1265G>A, NM_006954.2:c.1244G>A, NM_006954.1:c.1244G>A, NM_001278177.2:c.1307G>A, NM_001278177.1:c.1307G>A, NM_001324176.2:c.908G>A, NM_001324176.1:c.908G>A, NM_001324178.2:c.1265G>A, NM_001324178.1:c.1265G>A, NM_001278170.2:c.1262G>A, NM_001278170.1:c.1262G>A, NM_001278173.1:c.1298G>A, NM_001278178.1:c.908G>A, XP_011517952.1:p.Cys415Tyr, XP_011517953.1:p.Cys414Tyr, NP_008905.1:p.Cys414Tyr, XP_011517956.1:p.Cys336Tyr, NP_001265100.1:p.Cys303Tyr, NP_001265108.1:p.Cys303Tyr, NP_001311106.1:p.Cys303Tyr, NP_001265105.1:p.Cys372Tyr, NP_001265103.1:p.Cys303Tyr, NP_001265104.1:p.Cys337Tyr, NP_001311104.1:p.Cys303Tyr, XP_016872106.1:p.Cys422Tyr, NP_008885.1:p.Cys415Tyr, NP_001265106.1:p.Cys436Tyr, NP_001311105.1:p.Cys303Tyr, NP_001311107.1:p.Cys422Tyr, NP_001265099.1:p.Cys421Tyr, NP_001265102.1:p.Cys433Tyr, NP_001265107.1:p.Cys303Tyr

                                    18.

                                    rs1477079559 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      10:38055665 (GRCh38)
                                      10:38344593 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:38055664:GG:G
                                      Gene:
                                      ZNF33A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0./0 (ALFA)
                                      -=0.000008/2 (GnomAD_exomes)
                                      -=0.000071/10 (GnomAD)
                                      -=0.000083/22 (TOPMED)
                                      -=0.000719/9 (GoESP)
                                      HGVS:
                                      NC_000010.11:g.38055666del, NC_000010.10:g.38344594del, XM_011519650.3:c.1542del, XM_011519650.2:c.1542del, XM_011519650.1:c.1542del, XM_011519651.3:c.1539del, XM_011519651.2:c.1539del, XM_011519651.1:c.1539del, NM_006974.3:c.1539del, NM_006974.2:c.1539del, XM_011519654.3:c.1305del, XM_011519654.2:c.1305del, XM_011519654.1:c.1305del, NM_001278171.2:c.1206del, NM_001278171.1:c.1206del, NM_001278179.2:c.1206del, NM_001278179.1:c.1206del, NM_001324177.2:c.1206del, NM_001324177.1:c.1206del, NM_001278176.2:c.1413del, NM_001278176.1:c.1413del, NM_001278174.2:c.1206del, NM_001278174.1:c.1206del, NM_001278175.2:c.1308del, NM_001278175.1:c.1308del, NM_001324175.2:c.1206del, NM_001324175.1:c.1206del, XM_017016617.2:c.1563del, XM_017016617.1:c.1563del, NM_006954.2:c.1542del, NM_006954.1:c.1542del, NM_001278177.2:c.1605del, NM_001278177.1:c.1605del, NM_001324176.2:c.1206del, NM_001324176.1:c.1206del, NM_001324178.2:c.1563del, NM_001324178.1:c.1563del, NM_001278170.2:c.1560del, NM_001278170.1:c.1560del, NM_001278173.1:c.1596del, NM_001278178.1:c.1206del, XP_011517952.1:p.Arg514fs, XP_011517953.1:p.Arg513fs, NP_008905.1:p.Arg513fs, XP_011517956.1:p.Arg435fs, NP_001265100.1:p.Arg402fs, NP_001265108.1:p.Arg402fs, NP_001311106.1:p.Arg402fs, NP_001265105.1:p.Arg471fs, NP_001265103.1:p.Arg402fs, NP_001265104.1:p.Arg436fs, NP_001311104.1:p.Arg402fs, XP_016872106.1:p.Arg521fs, NP_008885.1:p.Arg514fs, NP_001265106.1:p.Arg535fs, NP_001311105.1:p.Arg402fs, NP_001311107.1:p.Arg521fs, NP_001265099.1:p.Arg520fs, NP_001265102.1:p.Arg532fs, NP_001265107.1:p.Arg402fs

                                      19.

                                      rs1477029753 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        10:38056314 (GRCh38)
                                        10:38345242 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:38056313:T:C,NC_000010.11:38056313:T:G
                                        Gene:
                                        ZNF33A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000010.11:g.38056314T>C, NC_000010.11:g.38056314T>G, NC_000010.10:g.38345242T>C, NC_000010.10:g.38345242T>G, XM_011519650.3:c.2190T>C, XM_011519650.3:c.2190T>G, XM_011519650.2:c.2190T>C, XM_011519650.2:c.2190T>G, XM_011519650.1:c.2190T>C, XM_011519650.1:c.2190T>G, XM_011519651.3:c.2187T>C, XM_011519651.3:c.2187T>G, XM_011519651.2:c.2187T>C, XM_011519651.2:c.2187T>G, XM_011519651.1:c.2187T>C, XM_011519651.1:c.2187T>G, NM_006974.3:c.2187T>C, NM_006974.3:c.2187T>G, NM_006974.2:c.2187T>C, NM_006974.2:c.2187T>G, XM_011519654.3:c.1953T>C, XM_011519654.3:c.1953T>G, XM_011519654.2:c.1953T>C, XM_011519654.2:c.1953T>G, XM_011519654.1:c.1953T>C, XM_011519654.1:c.1953T>G, NM_001278171.2:c.1854T>C, NM_001278171.2:c.1854T>G, NM_001278171.1:c.1854T>C, NM_001278171.1:c.1854T>G, NM_001278179.2:c.1854T>C, NM_001278179.2:c.1854T>G, NM_001278179.1:c.1854T>C, NM_001278179.1:c.1854T>G, NM_001324177.2:c.1854T>C, NM_001324177.2:c.1854T>G, NM_001324177.1:c.1854T>C, NM_001324177.1:c.1854T>G, NM_001278176.2:c.2061T>C, NM_001278176.2:c.2061T>G, NM_001278176.1:c.2061T>C, NM_001278176.1:c.2061T>G, NM_001278174.2:c.1854T>C, NM_001278174.2:c.1854T>G, NM_001278174.1:c.1854T>C, NM_001278174.1:c.1854T>G, NM_001278175.2:c.1956T>C, NM_001278175.2:c.1956T>G, NM_001278175.1:c.1956T>C, NM_001278175.1:c.1956T>G, NM_001324175.2:c.1854T>C, NM_001324175.2:c.1854T>G, NM_001324175.1:c.1854T>C, NM_001324175.1:c.1854T>G, XM_017016617.2:c.2211T>C, XM_017016617.2:c.2211T>G, XM_017016617.1:c.2211T>C, XM_017016617.1:c.2211T>G, NM_006954.2:c.2190T>C, NM_006954.2:c.2190T>G, NM_006954.1:c.2190T>C, NM_006954.1:c.2190T>G, NM_001278177.2:c.2253T>C, NM_001278177.2:c.2253T>G, NM_001278177.1:c.2253T>C, NM_001278177.1:c.2253T>G, NM_001324176.2:c.1854T>C, NM_001324176.2:c.1854T>G, NM_001324176.1:c.1854T>C, NM_001324176.1:c.1854T>G, NM_001324178.2:c.2211T>C, NM_001324178.2:c.2211T>G, NM_001324178.1:c.2211T>C, NM_001324178.1:c.2211T>G, NM_001278170.2:c.2208T>C, NM_001278170.2:c.2208T>G, NM_001278170.1:c.2208T>C, NM_001278170.1:c.2208T>G, NM_001278173.1:c.2244T>C, NM_001278173.1:c.2244T>G, NM_001278178.1:c.1854T>C, NM_001278178.1:c.1854T>G, XP_011517952.1:p.Phe730Leu, XP_011517953.1:p.Phe729Leu, NP_008905.1:p.Phe729Leu, XP_011517956.1:p.Phe651Leu, NP_001265100.1:p.Phe618Leu, NP_001265108.1:p.Phe618Leu, NP_001311106.1:p.Phe618Leu, NP_001265105.1:p.Phe687Leu, NP_001265103.1:p.Phe618Leu, NP_001265104.1:p.Phe652Leu, NP_001311104.1:p.Phe618Leu, XP_016872106.1:p.Phe737Leu, NP_008885.1:p.Phe730Leu, NP_001265106.1:p.Phe751Leu, NP_001311105.1:p.Phe618Leu, NP_001311107.1:p.Phe737Leu, NP_001265099.1:p.Phe736Leu, NP_001265102.1:p.Phe748Leu, NP_001265107.1:p.Phe618Leu

                                        20.

                                        rs1476841449 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:38056361 (GRCh38)
                                          10:38345289 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:38056360:A:G
                                          Gene:
                                          ZNF33A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          HGVS:
                                          NC_000010.11:g.38056361A>G, NC_000010.10:g.38345289A>G, XM_011519650.3:c.2237A>G, XM_011519650.2:c.2237A>G, XM_011519650.1:c.2237A>G, XM_011519651.3:c.2234A>G, XM_011519651.2:c.2234A>G, XM_011519651.1:c.2234A>G, NM_006974.3:c.2234A>G, NM_006974.2:c.2234A>G, XM_011519654.3:c.2000A>G, XM_011519654.2:c.2000A>G, XM_011519654.1:c.2000A>G, NM_001278171.2:c.1901A>G, NM_001278171.1:c.1901A>G, NM_001278179.2:c.1901A>G, NM_001278179.1:c.1901A>G, NM_001324177.2:c.1901A>G, NM_001324177.1:c.1901A>G, NM_001278176.2:c.2108A>G, NM_001278176.1:c.2108A>G, NM_001278174.2:c.1901A>G, NM_001278174.1:c.1901A>G, NM_001278175.2:c.2003A>G, NM_001278175.1:c.2003A>G, NM_001324175.2:c.1901A>G, NM_001324175.1:c.1901A>G, XM_017016617.2:c.2258A>G, XM_017016617.1:c.2258A>G, NM_006954.2:c.2237A>G, NM_006954.1:c.2237A>G, NM_001278177.2:c.2300A>G, NM_001278177.1:c.2300A>G, NM_001324176.2:c.1901A>G, NM_001324176.1:c.1901A>G, NM_001324178.2:c.2258A>G, NM_001324178.1:c.2258A>G, NM_001278170.2:c.2255A>G, NM_001278170.1:c.2255A>G, NM_001278173.1:c.2291A>G, NM_001278178.1:c.1901A>G, XP_011517952.1:p.Glu746Gly, XP_011517953.1:p.Glu745Gly, NP_008905.1:p.Glu745Gly, XP_011517956.1:p.Glu667Gly, NP_001265100.1:p.Glu634Gly, NP_001265108.1:p.Glu634Gly, NP_001311106.1:p.Glu634Gly, NP_001265105.1:p.Glu703Gly, NP_001265103.1:p.Glu634Gly, NP_001265104.1:p.Glu668Gly, NP_001311104.1:p.Glu634Gly, XP_016872106.1:p.Glu753Gly, NP_008885.1:p.Glu746Gly, NP_001265106.1:p.Glu767Gly, NP_001311105.1:p.Glu634Gly, NP_001311107.1:p.Glu753Gly, NP_001265099.1:p.Glu752Gly, NP_001265102.1:p.Glu764Gly, NP_001265107.1:p.Glu634Gly

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