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Items: 1 to 20 of 1198

1.

rs1490834670 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:12224723 (GRCh38)
    11:12246270 (GRCh37)
    Canonical SPDI:
    NC_000011.10:12224722:G:A
    Gene:
    MICAL2 (Varview), LOC124902634 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.12224723G>A, NC_000011.9:g.12246270G>A, NG_051801.1:g.119148G>A, NM_014632.4:c.1591G>A, NM_014632.3:c.1591G>A, NM_014632.2:c.1591G>A, NM_001346299.2:c.1591G>A, NM_001346299.1:c.1591G>A, NM_001346298.2:c.1591G>A, NM_001346298.1:c.1591G>A, NR_144419.2:n.1880G>A, NR_144419.1:n.1894G>A, NR_144420.2:n.1876G>A, NR_144420.1:n.1890G>A, NM_001346293.2:c.1591G>A, NM_001346293.1:c.1591G>A, NR_144417.2:n.1880G>A, NR_144417.1:n.1894G>A, NR_144416.2:n.1876G>A, NR_144416.1:n.1890G>A, NR_144415.2:n.1805G>A, NR_144415.1:n.1819G>A, NM_001282663.2:c.1591G>A, NM_001282663.1:c.1591G>A, NR_144418.2:n.1805G>A, NR_144418.1:n.1819G>A, NM_001346297.2:c.1591G>A, NM_001346297.1:c.1591G>A, NM_001346295.2:c.1591G>A, NM_001346295.1:c.1591G>A, NM_001346296.2:c.1591G>A, NM_001346296.1:c.1591G>A, NM_001346292.2:c.1591G>A, NM_001346292.1:c.1591G>A, NM_001346294.2:c.1591G>A, NM_001346294.1:c.1591G>A, NM_001282666.1:c.1591G>A, NM_001282667.1:c.1591G>A, NM_001282665.1:c.1591G>A, NM_001282664.1:c.1591G>A, NM_001393937.1:c.1591G>A, NP_055447.1:p.Glu531Lys, NP_001333228.1:p.Glu531Lys, NP_001333227.1:p.Glu531Lys, NP_001333222.1:p.Glu531Lys, NP_001269592.1:p.Glu531Lys, NP_001333226.1:p.Glu531Lys, NP_001333224.1:p.Glu531Lys, NP_001333225.1:p.Glu531Lys, NP_001333221.1:p.Glu531Lys, NP_001333223.1:p.Glu531Lys, NP_001269595.1:p.Glu531Lys, NP_001269596.1:p.Glu531Lys, NP_001269594.1:p.Glu531Lys, NP_001269593.1:p.Glu531Lys, NP_001380866.1:p.Glu531Lys
    2.

    rs1490271231 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:12239557 (GRCh38)
      11:12261104 (GRCh37)
      Canonical SPDI:
      NC_000011.10:12239556:G:A
      Gene:
      MICAL2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.12239557G>A, NC_000011.9:g.12261104G>A, NG_051801.1:g.133982G>A, NM_014632.4:c.2186G>A, NM_014632.3:c.2186G>A, NM_014632.2:c.2186G>A, NM_001346299.2:c.2186G>A, NM_001346299.1:c.2186G>A, NM_001346298.2:c.2186G>A, NM_001346298.1:c.2186G>A, NR_144419.2:n.2475G>A, NR_144419.1:n.2489G>A, NR_144420.2:n.2471G>A, NR_144420.1:n.2485G>A, NM_001346293.2:c.2186G>A, NM_001346293.1:c.2186G>A, NR_144417.2:n.2475G>A, NR_144417.1:n.2489G>A, NR_144416.2:n.2471G>A, NR_144416.1:n.2485G>A, NR_144415.2:n.2400G>A, NR_144415.1:n.2414G>A, NM_001282663.2:c.2186G>A, NM_001282663.1:c.2186G>A, NR_144418.2:n.2400G>A, NR_144418.1:n.2414G>A, NM_001346297.2:c.2186G>A, NM_001346297.1:c.2186G>A, NM_001346295.2:c.2186G>A, NM_001346295.1:c.2186G>A, NM_001346296.2:c.2186G>A, NM_001346296.1:c.2186G>A, NM_001346292.2:c.2186G>A, NM_001346292.1:c.2186G>A, NM_001346294.2:c.2186G>A, NM_001346294.1:c.2186G>A, NM_001282666.1:c.2186G>A, NM_001282667.1:c.2186G>A, NM_001282665.1:c.2186G>A, NM_001282664.1:c.2186G>A, NM_001393937.1:c.2186G>A, NP_055447.1:p.Ser729Asn, NP_001333228.1:p.Ser729Asn, NP_001333227.1:p.Ser729Asn, NP_001333222.1:p.Ser729Asn, NP_001269592.1:p.Ser729Asn, NP_001333226.1:p.Ser729Asn, NP_001333224.1:p.Ser729Asn, NP_001333225.1:p.Ser729Asn, NP_001333221.1:p.Ser729Asn, NP_001333223.1:p.Ser729Asn, NP_001269595.1:p.Ser729Asn, NP_001269596.1:p.Ser729Asn, NP_001269594.1:p.Ser729Asn, NP_001269593.1:p.Ser729Asn, NP_001380866.1:p.Ser729Asn
      3.

      rs1488466157 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:12226274 (GRCh38)
        11:12247821 (GRCh37)
        Canonical SPDI:
        NC_000011.10:12226273:G:A
        Gene:
        MICAL2 (Varview), LOC124902634 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.12226274G>A, NC_000011.9:g.12247821G>A, NG_051801.1:g.120699G>A, NM_014632.4:c.1792G>A, NM_014632.3:c.1792G>A, NM_014632.2:c.1792G>A, NM_001346299.2:c.1792G>A, NM_001346299.1:c.1792G>A, NM_001346298.2:c.1792G>A, NM_001346298.1:c.1792G>A, NR_144419.2:n.2081G>A, NR_144419.1:n.2095G>A, NR_144420.2:n.2077G>A, NR_144420.1:n.2091G>A, NM_001346293.2:c.1792G>A, NM_001346293.1:c.1792G>A, NR_144417.2:n.2081G>A, NR_144417.1:n.2095G>A, NR_144416.2:n.2077G>A, NR_144416.1:n.2091G>A, NR_144415.2:n.2006G>A, NR_144415.1:n.2020G>A, NM_001282663.2:c.1792G>A, NM_001282663.1:c.1792G>A, NR_144418.2:n.2006G>A, NR_144418.1:n.2020G>A, NM_001346297.2:c.1792G>A, NM_001346297.1:c.1792G>A, NM_001346295.2:c.1792G>A, NM_001346295.1:c.1792G>A, NM_001346296.2:c.1792G>A, NM_001346296.1:c.1792G>A, NM_001346292.2:c.1792G>A, NM_001346292.1:c.1792G>A, NM_001346294.2:c.1792G>A, NM_001346294.1:c.1792G>A, NM_001282666.1:c.1792G>A, NM_001282667.1:c.1792G>A, NM_001282665.1:c.1792G>A, NM_001282664.1:c.1792G>A, NM_001393937.1:c.1792G>A, NP_055447.1:p.Glu598Lys, NP_001333228.1:p.Glu598Lys, NP_001333227.1:p.Glu598Lys, NP_001333222.1:p.Glu598Lys, NP_001269592.1:p.Glu598Lys, NP_001333226.1:p.Glu598Lys, NP_001333224.1:p.Glu598Lys, NP_001333225.1:p.Glu598Lys, NP_001333221.1:p.Glu598Lys, NP_001333223.1:p.Glu598Lys, NP_001269595.1:p.Glu598Lys, NP_001269596.1:p.Glu598Lys, NP_001269594.1:p.Glu598Lys, NP_001269593.1:p.Glu598Lys, NP_001380866.1:p.Glu598Lys
        4.

        rs1488194351 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          11:12222719 (GRCh38)
          11:12244266 (GRCh37)
          Canonical SPDI:
          NC_000011.10:12222718:C:A
          Gene:
          MICAL2 (Varview), LOC124902634 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0./0 (GnomAD)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.12222719C>A, NC_000011.9:g.12244266C>A, NG_051801.1:g.117144C>A, NM_014632.4:c.1425C>A, NM_014632.3:c.1425C>A, NM_014632.2:c.1425C>A, NM_001346299.2:c.1425C>A, NM_001346299.1:c.1425C>A, NM_001346298.2:c.1425C>A, NM_001346298.1:c.1425C>A, NR_144419.2:n.1714C>A, NR_144419.1:n.1728C>A, NR_144420.2:n.1710C>A, NR_144420.1:n.1724C>A, NM_001346293.2:c.1425C>A, NM_001346293.1:c.1425C>A, NR_144417.2:n.1714C>A, NR_144417.1:n.1728C>A, NR_144416.2:n.1710C>A, NR_144416.1:n.1724C>A, NR_144415.2:n.1639C>A, NR_144415.1:n.1653C>A, NM_001282663.2:c.1425C>A, NM_001282663.1:c.1425C>A, NR_144418.2:n.1639C>A, NR_144418.1:n.1653C>A, NM_001346297.2:c.1425C>A, NM_001346297.1:c.1425C>A, NM_001346295.2:c.1425C>A, NM_001346295.1:c.1425C>A, NM_001346296.2:c.1425C>A, NM_001346296.1:c.1425C>A, NM_001346292.2:c.1425C>A, NM_001346292.1:c.1425C>A, NM_001346294.2:c.1425C>A, NM_001346294.1:c.1425C>A, NM_001282666.1:c.1425C>A, NM_001282667.1:c.1425C>A, NM_001282665.1:c.1425C>A, NM_001282664.1:c.1425C>A, NM_001393937.1:c.1425C>A, NP_055447.1:p.Asn475Lys, NP_001333228.1:p.Asn475Lys, NP_001333227.1:p.Asn475Lys, NP_001333222.1:p.Asn475Lys, NP_001269592.1:p.Asn475Lys, NP_001333226.1:p.Asn475Lys, NP_001333224.1:p.Asn475Lys, NP_001333225.1:p.Asn475Lys, NP_001333221.1:p.Asn475Lys, NP_001333223.1:p.Asn475Lys, NP_001269595.1:p.Asn475Lys, NP_001269596.1:p.Asn475Lys, NP_001269594.1:p.Asn475Lys, NP_001269593.1:p.Asn475Lys, NP_001380866.1:p.Asn475Lys
          5.

          rs1488193922 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:12259861 (GRCh38)
            11:12281408 (GRCh37)
            Canonical SPDI:
            NC_000011.10:12259860:G:A
            Gene:
            MICAL2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000011.10:g.12259861G>A, NC_000011.9:g.12281408G>A, NG_051801.1:g.154286G>A, NM_014632.4:c.3298G>A, NM_014632.3:c.3298G>A, NM_014632.2:c.3298G>A, NM_001346299.2:c.3235G>A, NM_001346299.1:c.3235G>A, NM_001346298.2:c.3235G>A, NM_001346298.1:c.3235G>A, NR_144419.2:n.3587G>A, NR_144419.1:n.3601G>A, NR_144420.2:n.3583G>A, NR_144420.1:n.3597G>A, NM_001346293.2:c.3235G>A, NM_001346293.1:c.3235G>A, NR_144417.2:n.3524G>A, NR_144417.1:n.3538G>A, NR_144416.2:n.3520G>A, NR_144416.1:n.3534G>A, NR_144415.2:n.3512G>A, NR_144415.1:n.3526G>A, NM_001282663.2:c.3298G>A, NM_001282663.1:c.3298G>A, NR_144418.2:n.3449G>A, NR_144418.1:n.3463G>A, NM_001346297.2:c.3235G>A, NM_001346297.1:c.3235G>A, NM_001346295.2:c.3235G>A, NM_001346295.1:c.3235G>A, NM_001346296.2:c.3235G>A, NM_001346296.1:c.3235G>A, NM_001346292.2:c.3298G>A, NM_001346292.1:c.3298G>A, NM_001346294.2:c.3235G>A, NM_001346294.1:c.3235G>A, NM_001282666.1:c.2620G>A, NM_001282667.1:c.2557G>A, NM_001282665.1:c.2728G>A, NM_001282664.1:c.3235G>A, NM_001393937.1:c.3298G>A, NP_055447.1:p.Val1100Met, NP_001333228.1:p.Val1079Met, NP_001333227.1:p.Val1079Met, NP_001333222.1:p.Val1079Met, NP_001269592.1:p.Val1100Met, NP_001333226.1:p.Val1079Met, NP_001333224.1:p.Val1079Met, NP_001333225.1:p.Val1079Met, NP_001333221.1:p.Val1100Met, NP_001333223.1:p.Val1079Met, NP_001269595.1:p.Val874Met, NP_001269596.1:p.Val853Met, NP_001269594.1:p.Val910Met, NP_001269593.1:p.Val1079Met, NP_001380866.1:p.Val1100Met
            6.

            rs1487849848 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              11:12242274 (GRCh38)
              11:12263821 (GRCh37)
              Canonical SPDI:
              NC_000011.10:12242273:A:C
              Gene:
              MICAL2 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000132/2 (ALFA)
              C=0.000021/3 (GnomAD)
              C=0.000446/2 (Estonian)
              HGVS:
              NC_000011.10:g.12242274A>C, NC_000011.9:g.12263821A>C, NG_051801.1:g.136699A>C, NM_014632.4:c.2398A>C, NM_014632.3:c.2398A>C, NM_014632.2:c.2398A>C, NM_001346299.2:c.2398A>C, NM_001346299.1:c.2398A>C, NM_001346298.2:c.2398A>C, NM_001346298.1:c.2398A>C, NR_144419.2:n.2687A>C, NR_144419.1:n.2701A>C, NR_144420.2:n.2683A>C, NR_144420.1:n.2697A>C, NM_001346293.2:c.2398A>C, NM_001346293.1:c.2398A>C, NR_144417.2:n.2687A>C, NR_144417.1:n.2701A>C, NR_144416.2:n.2683A>C, NR_144416.1:n.2697A>C, NR_144415.2:n.2612A>C, NR_144415.1:n.2626A>C, NM_001282663.2:c.2398A>C, NM_001282663.1:c.2398A>C, NR_144418.2:n.2612A>C, NR_144418.1:n.2626A>C, NM_001346297.2:c.2398A>C, NM_001346297.1:c.2398A>C, NM_001346295.2:c.2398A>C, NM_001346295.1:c.2398A>C, NM_001346296.2:c.2398A>C, NM_001346296.1:c.2398A>C, NM_001346292.2:c.2398A>C, NM_001346292.1:c.2398A>C, NM_001346294.2:c.2398A>C, NM_001346294.1:c.2398A>C, NM_001282664.1:c.2398A>C, NM_001393937.1:c.2398A>C, NP_055447.1:p.Ser800Arg, NP_001333228.1:p.Ser800Arg, NP_001333227.1:p.Ser800Arg, NP_001333222.1:p.Ser800Arg, NP_001269592.1:p.Ser800Arg, NP_001333226.1:p.Ser800Arg, NP_001333224.1:p.Ser800Arg, NP_001333225.1:p.Ser800Arg, NP_001333221.1:p.Ser800Arg, NP_001333223.1:p.Ser800Arg, NP_001269593.1:p.Ser800Arg, NP_001380866.1:p.Ser800Arg
              7.

              rs1486758560 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                11:12208131 (GRCh38)
                11:12229678 (GRCh37)
                Canonical SPDI:
                NC_000011.10:12208130:AAAA:AAA
                Gene:
                MICAL2 (Varview)
                Functional Consequence:
                frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.12208134del, NC_000011.9:g.12229681del, NG_051801.1:g.102559del, NM_014632.4:c.584del, NM_014632.3:c.584del, NM_014632.2:c.584del, NM_001346299.2:c.584del, NM_001346299.1:c.584del, NM_001346298.2:c.584del, NM_001346298.1:c.584del, NR_144419.2:n.873del, NR_144419.1:n.887del, NR_144420.2:n.869del, NR_144420.1:n.883del, NM_001346293.2:c.584del, NM_001346293.1:c.584del, NR_144417.2:n.873del, NR_144417.1:n.887del, NR_144416.2:n.869del, NR_144416.1:n.883del, NR_144415.2:n.798del, NR_144415.1:n.812del, NM_001282663.2:c.584del, NM_001282663.1:c.584del, NR_144418.2:n.798del, NR_144418.1:n.812del, NM_001346297.2:c.584del, NM_001346297.1:c.584del, NM_001346295.2:c.584del, NM_001346295.1:c.584del, NM_001346296.2:c.584del, NM_001346296.1:c.584del, NM_001346292.2:c.584del, NM_001346292.1:c.584del, NM_001346294.2:c.584del, NM_001346294.1:c.584del, NM_001282668.2:c.584del, NM_001282668.1:c.584del, NM_001282666.1:c.584del, NM_001282667.1:c.584del, NM_001282665.1:c.584del, NM_001282664.1:c.584del, NM_001393937.1:c.584del, NP_055447.1:p.Asn195fs, NP_001333228.1:p.Asn195fs, NP_001333227.1:p.Asn195fs, NP_001333222.1:p.Asn195fs, NP_001269592.1:p.Asn195fs, NP_001333226.1:p.Asn195fs, NP_001333224.1:p.Asn195fs, NP_001333225.1:p.Asn195fs, NP_001333221.1:p.Asn195fs, NP_001333223.1:p.Asn195fs, NP_001269597.1:p.Asn195fs, NP_001269595.1:p.Asn195fs, NP_001269596.1:p.Asn195fs, NP_001269594.1:p.Asn195fs, NP_001269593.1:p.Asn195fs, NP_001380866.1:p.Asn195fs
                9.

                rs1485970718 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:12259798 (GRCh38)
                  11:12281345 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:12259797:G:A
                  Gene:
                  MICAL2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.12259798G>A, NC_000011.9:g.12281345G>A, NG_051801.1:g.154223G>A, NM_014632.4:c.3235G>A, NM_014632.3:c.3235G>A, NM_014632.2:c.3235G>A, NM_001346299.2:c.3172G>A, NM_001346299.1:c.3172G>A, NM_001346298.2:c.3172G>A, NM_001346298.1:c.3172G>A, NR_144419.2:n.3524G>A, NR_144419.1:n.3538G>A, NR_144420.2:n.3520G>A, NR_144420.1:n.3534G>A, NM_001346293.2:c.3172G>A, NM_001346293.1:c.3172G>A, NR_144417.2:n.3461G>A, NR_144417.1:n.3475G>A, NR_144416.2:n.3457G>A, NR_144416.1:n.3471G>A, NR_144415.2:n.3449G>A, NR_144415.1:n.3463G>A, NM_001282663.2:c.3235G>A, NM_001282663.1:c.3235G>A, NR_144418.2:n.3386G>A, NR_144418.1:n.3400G>A, NM_001346297.2:c.3172G>A, NM_001346297.1:c.3172G>A, NM_001346295.2:c.3172G>A, NM_001346295.1:c.3172G>A, NM_001346296.2:c.3172G>A, NM_001346296.1:c.3172G>A, NM_001346292.2:c.3235G>A, NM_001346292.1:c.3235G>A, NM_001346294.2:c.3172G>A, NM_001346294.1:c.3172G>A, NM_001282666.1:c.2557G>A, NM_001282667.1:c.2494G>A, NM_001282665.1:c.2665G>A, NM_001282664.1:c.3172G>A, NM_001393937.1:c.3235G>A, NP_055447.1:p.Glu1079Lys, NP_001333228.1:p.Glu1058Lys, NP_001333227.1:p.Glu1058Lys, NP_001333222.1:p.Glu1058Lys, NP_001269592.1:p.Glu1079Lys, NP_001333226.1:p.Glu1058Lys, NP_001333224.1:p.Glu1058Lys, NP_001333225.1:p.Glu1058Lys, NP_001333221.1:p.Glu1079Lys, NP_001333223.1:p.Glu1058Lys, NP_001269595.1:p.Glu853Lys, NP_001269596.1:p.Glu832Lys, NP_001269594.1:p.Glu889Lys, NP_001269593.1:p.Glu1058Lys, NP_001380866.1:p.Glu1079Lys
                  10.

                  rs1485101994 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:12162174 (GRCh38)
                    11:12183721 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:12162173:G:A
                    Gene:
                    MICAL2 (Varview), MIR6124 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000011.10:g.12162174G>A, NC_000011.9:g.12183721G>A, NG_051801.1:g.56599G>A, NM_014632.4:c.19G>A, NM_014632.3:c.19G>A, NM_014632.2:c.19G>A, NM_001346299.2:c.19G>A, NM_001346299.1:c.19G>A, NM_001346298.2:c.19G>A, NM_001346298.1:c.19G>A, NR_144419.2:n.308G>A, NR_144419.1:n.322G>A, NR_144420.2:n.304G>A, NR_144420.1:n.318G>A, NM_001346293.2:c.19G>A, NM_001346293.1:c.19G>A, NR_144417.2:n.308G>A, NR_144417.1:n.322G>A, NR_144416.2:n.304G>A, NR_144416.1:n.318G>A, NR_144415.2:n.233G>A, NR_144415.1:n.247G>A, NM_001282663.2:c.19G>A, NM_001282663.1:c.19G>A, NR_144418.2:n.233G>A, NR_144418.1:n.247G>A, NM_001346297.2:c.19G>A, NM_001346297.1:c.19G>A, NM_001346295.2:c.19G>A, NM_001346295.1:c.19G>A, NM_001346296.2:c.19G>A, NM_001346296.1:c.19G>A, NM_001346292.2:c.19G>A, NM_001346292.1:c.19G>A, NM_001346294.2:c.19G>A, NM_001346294.1:c.19G>A, NM_001282668.2:c.19G>A, NM_001282668.1:c.19G>A, NM_001282666.1:c.19G>A, NM_001282667.1:c.19G>A, NM_001282665.1:c.19G>A, NM_001282664.1:c.19G>A, NM_001393937.1:c.19G>A, NP_055447.1:p.Glu7Lys, NP_001333228.1:p.Glu7Lys, NP_001333227.1:p.Glu7Lys, NP_001333222.1:p.Glu7Lys, NP_001269592.1:p.Glu7Lys, NP_001333226.1:p.Glu7Lys, NP_001333224.1:p.Glu7Lys, NP_001333225.1:p.Glu7Lys, NP_001333221.1:p.Glu7Lys, NP_001333223.1:p.Glu7Lys, NP_001269597.1:p.Glu7Lys, NP_001269595.1:p.Glu7Lys, NP_001269596.1:p.Glu7Lys, NP_001269594.1:p.Glu7Lys, NP_001269593.1:p.Glu7Lys, NP_001380866.1:p.Glu7Lys
                    12.
                    14.
                    15.

                    rs1482574048 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TCT>- [Show Flanks]
                      Chromosome:
                      11:12204347 (GRCh38)
                      11:12225894 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:12204344:CTTCT:CT
                      Gene:
                      MICAL2 (Varview)
                      Functional Consequence:
                      inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CT=0.000071/1 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      -=0.000011/3 (TOPMED)
                      -=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000011.10:g.12204347_12204349del, NC_000011.9:g.12225894_12225896del, NG_051801.1:g.98772_98774del, NM_014632.4:c.362_364del, NM_014632.3:c.362_364del, NM_014632.2:c.362_364del, NM_001346299.2:c.362_364del, NM_001346299.1:c.362_364del, NM_001346298.2:c.362_364del, NM_001346298.1:c.362_364del, NR_144419.2:n.651_653del, NR_144419.1:n.665_667del, NR_144420.2:n.647_649del, NR_144420.1:n.661_663del, NM_001346293.2:c.362_364del, NM_001346293.1:c.362_364del, NR_144417.2:n.651_653del, NR_144417.1:n.665_667del, NR_144416.2:n.647_649del, NR_144416.1:n.661_663del, NR_144415.2:n.576_578del, NR_144415.1:n.590_592del, NM_001282663.2:c.362_364del, NM_001282663.1:c.362_364del, NR_144418.2:n.576_578del, NR_144418.1:n.590_592del, NM_001346297.2:c.362_364del, NM_001346297.1:c.362_364del, NM_001346295.2:c.362_364del, NM_001346295.1:c.362_364del, NM_001346296.2:c.362_364del, NM_001346296.1:c.362_364del, NM_001346292.2:c.362_364del, NM_001346292.1:c.362_364del, NM_001346294.2:c.362_364del, NM_001346294.1:c.362_364del, NM_001282668.2:c.362_364del, NM_001282668.1:c.362_364del, NM_001282666.1:c.362_364del, NM_001282667.1:c.362_364del, NM_001282665.1:c.362_364del, NM_001282664.1:c.362_364del, NM_001393937.1:c.362_364del, NP_055447.1:p.Phe121del, NP_001333228.1:p.Phe121del, NP_001333227.1:p.Phe121del, NP_001333222.1:p.Phe121del, NP_001269592.1:p.Phe121del, NP_001333226.1:p.Phe121del, NP_001333224.1:p.Phe121del, NP_001333225.1:p.Phe121del, NP_001333221.1:p.Phe121del, NP_001333223.1:p.Phe121del, NP_001269597.1:p.Phe121del, NP_001269595.1:p.Phe121del, NP_001269596.1:p.Phe121del, NP_001269594.1:p.Phe121del, NP_001269593.1:p.Phe121del, NP_001380866.1:p.Phe121del
                      17.

                      rs1478914919 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        11:12243989 (GRCh38)
                        11:12265536 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:12243988:T:A,NC_000011.10:12243988:T:C
                        Gene:
                        MICAL2 (Varview)
                        Functional Consequence:
                        intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000011.10:g.12243989T>A, NC_000011.10:g.12243989T>C, NC_000011.9:g.12265536T>A, NC_000011.9:g.12265536T>C, NG_051801.1:g.138414T>A, NG_051801.1:g.138414T>C, NM_014632.4:c.2661T>A, NM_014632.4:c.2661T>C, NM_014632.3:c.2661T>A, NM_014632.3:c.2661T>C, NM_014632.2:c.2661T>A, NM_014632.2:c.2661T>C, NM_001346299.2:c.2661T>A, NM_001346299.2:c.2661T>C, NM_001346299.1:c.2661T>A, NM_001346299.1:c.2661T>C, NM_001346298.2:c.2661T>A, NM_001346298.2:c.2661T>C, NM_001346298.1:c.2661T>A, NM_001346298.1:c.2661T>C, NR_144419.2:n.2950T>A, NR_144419.2:n.2950T>C, NR_144419.1:n.2964T>A, NR_144419.1:n.2964T>C, NR_144420.2:n.2946T>A, NR_144420.2:n.2946T>C, NR_144420.1:n.2960T>A, NR_144420.1:n.2960T>C, NM_001346293.2:c.2661T>A, NM_001346293.2:c.2661T>C, NM_001346293.1:c.2661T>A, NM_001346293.1:c.2661T>C, NR_144417.2:n.2950T>A, NR_144417.2:n.2950T>C, NR_144417.1:n.2964T>A, NR_144417.1:n.2964T>C, NR_144416.2:n.2946T>A, NR_144416.2:n.2946T>C, NR_144416.1:n.2960T>A, NR_144416.1:n.2960T>C, NR_144415.2:n.2875T>A, NR_144415.2:n.2875T>C, NR_144415.1:n.2889T>A, NR_144415.1:n.2889T>C, NM_001282663.2:c.2661T>A, NM_001282663.2:c.2661T>C, NM_001282663.1:c.2661T>A, NM_001282663.1:c.2661T>C, NR_144418.2:n.2875T>A, NR_144418.2:n.2875T>C, NR_144418.1:n.2889T>A, NR_144418.1:n.2889T>C, NM_001346297.2:c.2661T>A, NM_001346297.2:c.2661T>C, NM_001346297.1:c.2661T>A, NM_001346297.1:c.2661T>C, NM_001346295.2:c.2661T>A, NM_001346295.2:c.2661T>C, NM_001346295.1:c.2661T>A, NM_001346295.1:c.2661T>C, NM_001346296.2:c.2661T>A, NM_001346296.2:c.2661T>C, NM_001346296.1:c.2661T>A, NM_001346296.1:c.2661T>C, NM_001346292.2:c.2661T>A, NM_001346292.2:c.2661T>C, NM_001346292.1:c.2661T>A, NM_001346292.1:c.2661T>C, NM_001346294.2:c.2661T>A, NM_001346294.2:c.2661T>C, NM_001346294.1:c.2661T>A, NM_001346294.1:c.2661T>C, NM_001282664.1:c.2661T>A, NM_001282664.1:c.2661T>C, NM_001393937.1:c.2661T>A, NM_001393937.1:c.2661T>C, NP_055447.1:p.Asn887Lys, NP_001333228.1:p.Asn887Lys, NP_001333227.1:p.Asn887Lys, NP_001333222.1:p.Asn887Lys, NP_001269592.1:p.Asn887Lys, NP_001333226.1:p.Asn887Lys, NP_001333224.1:p.Asn887Lys, NP_001333225.1:p.Asn887Lys, NP_001333221.1:p.Asn887Lys, NP_001333223.1:p.Asn887Lys, NP_001269593.1:p.Asn887Lys, NP_001380866.1:p.Asn887Lys
                        18.

                        rs1478623212 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:12208071 (GRCh38)
                          11:12229618 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:12208070:G:A
                          Gene:
                          MICAL2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000011.10:g.12208071G>A, NC_000011.9:g.12229618G>A, NG_051801.1:g.102496G>A, NM_014632.4:c.521G>A, NM_014632.3:c.521G>A, NM_014632.2:c.521G>A, NM_001346299.2:c.521G>A, NM_001346299.1:c.521G>A, NM_001346298.2:c.521G>A, NM_001346298.1:c.521G>A, NR_144419.2:n.810G>A, NR_144419.1:n.824G>A, NR_144420.2:n.806G>A, NR_144420.1:n.820G>A, NM_001346293.2:c.521G>A, NM_001346293.1:c.521G>A, NR_144417.2:n.810G>A, NR_144417.1:n.824G>A, NR_144416.2:n.806G>A, NR_144416.1:n.820G>A, NR_144415.2:n.735G>A, NR_144415.1:n.749G>A, NM_001282663.2:c.521G>A, NM_001282663.1:c.521G>A, NR_144418.2:n.735G>A, NR_144418.1:n.749G>A, NM_001346297.2:c.521G>A, NM_001346297.1:c.521G>A, NM_001346295.2:c.521G>A, NM_001346295.1:c.521G>A, NM_001346296.2:c.521G>A, NM_001346296.1:c.521G>A, NM_001346292.2:c.521G>A, NM_001346292.1:c.521G>A, NM_001346294.2:c.521G>A, NM_001346294.1:c.521G>A, NM_001282668.2:c.521G>A, NM_001282668.1:c.521G>A, NM_001282666.1:c.521G>A, NM_001282667.1:c.521G>A, NM_001282665.1:c.521G>A, NM_001282664.1:c.521G>A, NM_001393937.1:c.521G>A, NP_055447.1:p.Gly174Glu, NP_001333228.1:p.Gly174Glu, NP_001333227.1:p.Gly174Glu, NP_001333222.1:p.Gly174Glu, NP_001269592.1:p.Gly174Glu, NP_001333226.1:p.Gly174Glu, NP_001333224.1:p.Gly174Glu, NP_001333225.1:p.Gly174Glu, NP_001333221.1:p.Gly174Glu, NP_001333223.1:p.Gly174Glu, NP_001269597.1:p.Gly174Glu, NP_001269595.1:p.Gly174Glu, NP_001269596.1:p.Gly174Glu, NP_001269594.1:p.Gly174Glu, NP_001269593.1:p.Gly174Glu, NP_001380866.1:p.Gly174Glu
                          19.

                          rs1477727838 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:12162409 (GRCh38)
                            11:12183956 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:12162408:C:T
                            Gene:
                            MICAL2 (Varview), MIR6124 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.12162409C>T, NC_000011.9:g.12183956C>T, NG_051801.1:g.56834C>T, NM_014632.4:c.254C>T, NM_014632.3:c.254C>T, NM_014632.2:c.254C>T, NM_001346299.2:c.254C>T, NM_001346299.1:c.254C>T, NM_001346298.2:c.254C>T, NM_001346298.1:c.254C>T, NR_144419.2:n.543C>T, NR_144419.1:n.557C>T, NR_144420.2:n.539C>T, NR_144420.1:n.553C>T, NM_001346293.2:c.254C>T, NM_001346293.1:c.254C>T, NR_144417.2:n.543C>T, NR_144417.1:n.557C>T, NR_144416.2:n.539C>T, NR_144416.1:n.553C>T, NR_144415.2:n.468C>T, NR_144415.1:n.482C>T, NM_001282663.2:c.254C>T, NM_001282663.1:c.254C>T, NR_144418.2:n.468C>T, NR_144418.1:n.482C>T, NM_001346297.2:c.254C>T, NM_001346297.1:c.254C>T, NM_001346295.2:c.254C>T, NM_001346295.1:c.254C>T, NM_001346296.2:c.254C>T, NM_001346296.1:c.254C>T, NM_001346292.2:c.254C>T, NM_001346292.1:c.254C>T, NM_001346294.2:c.254C>T, NM_001346294.1:c.254C>T, NM_001282668.2:c.254C>T, NM_001282668.1:c.254C>T, NM_001282666.1:c.254C>T, NM_001282667.1:c.254C>T, NM_001282665.1:c.254C>T, NM_001282664.1:c.254C>T, NM_001393937.1:c.254C>T, NP_055447.1:p.Thr85Met, NP_001333228.1:p.Thr85Met, NP_001333227.1:p.Thr85Met, NP_001333222.1:p.Thr85Met, NP_001269592.1:p.Thr85Met, NP_001333226.1:p.Thr85Met, NP_001333224.1:p.Thr85Met, NP_001333225.1:p.Thr85Met, NP_001333221.1:p.Thr85Met, NP_001333223.1:p.Thr85Met, NP_001269597.1:p.Thr85Met, NP_001269595.1:p.Thr85Met, NP_001269596.1:p.Thr85Met, NP_001269594.1:p.Thr85Met, NP_001269593.1:p.Thr85Met, NP_001380866.1:p.Thr85Met
                            20.

                            rs1474014195 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:12262520 (GRCh38)
                              11:12284067 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:12262519:A:G
                              Gene:
                              MICAL2 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant,terminator_codon_variant,stop_lost,non_coding_transcript_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_000011.10:g.12262520A>G, NC_000011.9:g.12284067A>G, NG_051801.1:g.156945A>G, NM_014632.4:c.3375A>G, NM_014632.3:c.3375A>G, NM_014632.2:c.3375A>G, NM_001346299.2:c.3312A>G, NM_001346299.1:c.3312A>G, NM_001346298.2:c.3312A>G, NM_001346298.1:c.3312A>G, NR_144419.2:n.3664A>G, NR_144419.1:n.3678A>G, NR_144420.2:n.3660A>G, NR_144420.1:n.3674A>G, NM_001346293.2:c.3312A>G, NM_001346293.1:c.3312A>G, NR_144417.2:n.3601A>G, NR_144417.1:n.3615A>G, NR_144416.2:n.3597A>G, NR_144416.1:n.3611A>G, NR_144415.2:n.3589A>G, NR_144415.1:n.3603A>G, NM_001282663.2:c.3375A>G, NM_001282663.1:c.3375A>G, NR_144418.2:n.3526A>G, NR_144418.1:n.3540A>G, NM_001346297.2:c.3312A>G, NM_001346297.1:c.3312A>G, NM_001346295.2:c.3312A>G, NM_001346295.1:c.3312A>G, NM_001346296.2:c.3312A>G, NM_001346296.1:c.3312A>G, NM_001346292.2:c.3375A>G, NM_001346292.1:c.3375A>G, NM_001346294.2:c.3312A>G, NM_001346294.1:c.3312A>G, NM_001282666.1:c.*2348A>G, NM_001282667.1:c.*2348A>G, NM_001282665.1:c.2805A>G, NM_001282664.1:c.3312A>G, NP_055447.1:p.Ter1125Trp, NP_001333228.1:p.Ter1104Trp, NP_001333227.1:p.Ter1104Trp, NP_001333222.1:p.Ter1104Trp, NP_001269592.1:p.Ter1125Trp, NP_001333226.1:p.Ter1104Trp, NP_001333224.1:p.Ter1104Trp, NP_001333225.1:p.Ter1104Trp, NP_001333221.1:p.Ter1125Trp, NP_001333223.1:p.Ter1104Trp, NP_001269594.1:p.Ter935Trp, NP_001269593.1:p.Ter1104Trp

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