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Items: 1 to 20 of 313

1.

rs1488869518 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:48980421 (GRCh38)
    3:49017854 (GRCh37)
    Canonical SPDI:
    NC_000003.12:48980420:G:A
    Gene:
    ARIH2 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.48980421G>A, NC_000003.11:g.49017854G>A, NM_006321.4:c.1182G>A, NM_006321.3:c.1182G>A, NM_006321.2:c.1182G>A, XM_024453309.2:c.1182G>A, XM_024453309.1:c.1182G>A, NR_146084.2:n.1911G>A, NR_146084.1:n.1933G>A, NM_001349220.2:c.966G>A, NM_001349220.1:c.966G>A, NR_146082.2:n.1774G>A, NR_146082.1:n.1796G>A, NM_001349210.2:c.1182G>A, NM_001349210.1:c.1182G>A, NM_001349225.2:c.930G>A, NM_001349225.1:c.930G>A, NM_001349213.2:c.1251G>A, NM_001349213.1:c.1251G>A, NR_146083.2:n.1652G>A, NR_146083.1:n.1674G>A, NM_001349222.2:c.930G>A, NM_001349222.1:c.930G>A, NM_001317333.2:c.1182G>A, NM_001317333.1:c.1182G>A, NM_001349216.2:c.1035G>A, NM_001349216.1:c.1035G>A, NM_001349219.2:c.966G>A, NM_001349219.1:c.966G>A, NM_001349223.2:c.930G>A, NM_001349223.1:c.930G>A, NM_001349214.2:c.1251G>A, NM_001349214.1:c.1251G>A, NM_001349209.2:c.1182G>A, NM_001349209.1:c.1182G>A, NM_001349217.2:c.966G>A, NM_001349217.1:c.966G>A, NM_001349215.2:c.1182G>A, NM_001349215.1:c.1182G>A, XM_011533268.2:c.1251G>A, XM_011533268.1:c.1251G>A, XM_017005535.2:c.1035G>A, XM_017005535.1:c.1035G>A, NM_001349218.2:c.966G>A, NM_001349218.1:c.966G>A, NM_001349211.2:c.1182G>A, NM_001349211.1:c.1182G>A, NM_001349227.2:c.702G>A, NM_001349227.1:c.702G>A, NR_146085.2:n.1331G>A, NR_146085.1:n.1353G>A, XM_011533271.2:c.1035G>A, XM_011533271.1:c.1035G>A, XM_017005534.2:c.1035G>A, XM_017005534.1:c.1035G>A, NM_001349221.2:c.966G>A, NM_001349221.1:c.966G>A, NM_001349224.2:c.930G>A, NM_001349224.1:c.930G>A, NM_001349226.2:c.930G>A, NM_001349226.1:c.930G>A, XM_024453311.2:c.825G>A, XM_024453311.1:c.825G>A, NM_001349212.2:c.756G>A, NM_001349212.1:c.756G>A, NM_001317334.2:c.756G>A, NM_001317334.1:c.756G>A, XM_047447265.1:c.1251G>A, XM_047447267.1:c.1251G>A, XM_047447278.1:c.999G>A, XM_047447283.1:c.999G>A, XM_047447284.1:c.966G>A

    2.

    rs1488591474 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:48979519 (GRCh38)
      3:49016952 (GRCh37)
      Canonical SPDI:
      NC_000003.12:48979518:T:C
      Gene:
      ARIH2 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000003.12:g.48979519T>C, NC_000003.11:g.49016952T>C, NM_006321.4:c.999T>C, NM_006321.3:c.999T>C, NM_006321.2:c.999T>C, XM_024453309.2:c.999T>C, XM_024453309.1:c.999T>C, NR_146084.2:n.1728T>C, NR_146084.1:n.1750T>C, NM_001349220.2:c.783T>C, NM_001349220.1:c.783T>C, NR_146082.2:n.1591T>C, NR_146082.1:n.1613T>C, NM_001349210.2:c.999T>C, NM_001349210.1:c.999T>C, NM_001349225.2:c.747T>C, NM_001349225.1:c.747T>C, NM_001349213.2:c.1068T>C, NM_001349213.1:c.1068T>C, NR_146083.2:n.1469T>C, NR_146083.1:n.1491T>C, NM_001349222.2:c.747T>C, NM_001349222.1:c.747T>C, NM_001317333.2:c.999T>C, NM_001317333.1:c.999T>C, NM_001349216.2:c.852T>C, NM_001349216.1:c.852T>C, NM_001349219.2:c.783T>C, NM_001349219.1:c.783T>C, NM_001349223.2:c.747T>C, NM_001349223.1:c.747T>C, NM_001349214.2:c.1068T>C, NM_001349214.1:c.1068T>C, NM_001349209.2:c.999T>C, NM_001349209.1:c.999T>C, NM_001349217.2:c.783T>C, NM_001349217.1:c.783T>C, NM_001349215.2:c.999T>C, NM_001349215.1:c.999T>C, XM_011533268.2:c.1068T>C, XM_011533268.1:c.1068T>C, XM_017005535.2:c.852T>C, XM_017005535.1:c.852T>C, NM_001349218.2:c.783T>C, NM_001349218.1:c.783T>C, NM_001349211.2:c.999T>C, NM_001349211.1:c.999T>C, NM_001349227.2:c.519T>C, NM_001349227.1:c.519T>C, NR_146085.2:n.1148T>C, NR_146085.1:n.1170T>C, XM_011533271.2:c.852T>C, XM_011533271.1:c.852T>C, XM_017005534.2:c.852T>C, XM_017005534.1:c.852T>C, NM_001349221.2:c.783T>C, NM_001349221.1:c.783T>C, NM_001349224.2:c.747T>C, NM_001349224.1:c.747T>C, NM_001349226.2:c.747T>C, NM_001349226.1:c.747T>C, XM_024453311.2:c.642T>C, XM_024453311.1:c.642T>C, NM_001349212.2:c.573T>C, NM_001349212.1:c.573T>C, NM_001317334.2:c.573T>C, NM_001317334.1:c.573T>C, XM_047447265.1:c.1068T>C, XM_047447267.1:c.1068T>C, XM_047447278.1:c.816T>C, XM_047447283.1:c.816T>C, XM_047447284.1:c.783T>C

      3.

      rs1486785724 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:48967199 (GRCh38)
        3:49004632 (GRCh37)
        Canonical SPDI:
        NC_000003.12:48967198:G:A
        Gene:
        ARIH2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000047/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.48967199G>A, NC_000003.11:g.49004632G>A, NM_006321.4:c.462G>A, NM_006321.3:c.462G>A, NM_006321.2:c.462G>A, XM_024453309.2:c.462G>A, XM_024453309.1:c.462G>A, NR_146084.2:n.902G>A, NR_146084.1:n.924G>A, NM_001349220.2:c.246G>A, NM_001349220.1:c.246G>A, NR_146082.2:n.902G>A, NR_146082.1:n.924G>A, NM_001349210.2:c.462G>A, NM_001349210.1:c.462G>A, NM_001349225.2:c.210G>A, NM_001349225.1:c.210G>A, NM_001349213.2:c.462G>A, NM_001349213.1:c.462G>A, NR_146083.2:n.780G>A, NR_146083.1:n.802G>A, NM_001349222.2:c.210G>A, NM_001349222.1:c.210G>A, NM_001317333.2:c.462G>A, NM_001317333.1:c.462G>A, NM_001349216.2:c.246G>A, NM_001349216.1:c.246G>A, NM_001349219.2:c.246G>A, NM_001349219.1:c.246G>A, NM_001349223.2:c.210G>A, NM_001349223.1:c.210G>A, NM_001349214.2:c.462G>A, NM_001349214.1:c.462G>A, NM_001349209.2:c.462G>A, NM_001349209.1:c.462G>A, NM_001349217.2:c.246G>A, NM_001349217.1:c.246G>A, NM_001349215.2:c.462G>A, NM_001349215.1:c.462G>A, XM_011533268.2:c.462G>A, XM_011533268.1:c.462G>A, XM_017005535.2:c.246G>A, XM_017005535.1:c.246G>A, NM_001349218.2:c.246G>A, NM_001349218.1:c.246G>A, NM_001349211.2:c.462G>A, NM_001349211.1:c.462G>A, NM_001349227.2:c.-205G>A, NM_001349227.1:c.-205G>A, NR_146085.2:n.474G>A, NR_146085.1:n.496G>A, XM_011533271.2:c.246G>A, XM_011533271.1:c.246G>A, XM_017005534.2:c.246G>A, XM_017005534.1:c.246G>A, NM_001349221.2:c.246G>A, NM_001349221.1:c.246G>A, NM_001349224.2:c.210G>A, NM_001349224.1:c.210G>A, NM_001349226.2:c.210G>A, NM_001349226.1:c.210G>A, XM_024453311.2:c.36G>A, XM_024453311.1:c.36G>A, NM_001349212.2:c.36G>A, NM_001349212.1:c.36G>A, NM_001317334.2:c.36G>A, NM_001317334.1:c.36G>A, XM_047447265.1:c.462G>A, XM_047447267.1:c.462G>A, XM_047447278.1:c.210G>A, XM_047447283.1:c.210G>A, XM_047447284.1:c.246G>A

        4.

        rs1486775038 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:48927600 (GRCh38)
          3:48965033 (GRCh37)
          Canonical SPDI:
          NC_000003.12:48927599:A:G
          Gene:
          ARIH2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.48927600A>G, NC_000003.11:g.48965033A>G, NM_006321.4:c.42A>G, NM_006321.3:c.42A>G, NM_006321.2:c.42A>G, XM_024453309.2:c.42A>G, XM_024453309.1:c.42A>G, NR_146084.2:n.482A>G, NR_146084.1:n.504A>G, NM_001349220.2:c.-375A>G, NM_001349220.1:c.-375A>G, NR_146082.2:n.482A>G, NR_146082.1:n.504A>G, NM_001349210.2:c.42A>G, NM_001349210.1:c.42A>G, NM_001349225.2:c.-288A>G, NM_001349225.1:c.-288A>G, NM_001349213.2:c.42A>G, NM_001349213.1:c.42A>G, NR_146083.2:n.360A>G, NR_146083.1:n.382A>G, NM_001349222.2:c.-288A>G, NM_001349222.1:c.-288A>G, NM_001317333.2:c.42A>G, NM_001317333.1:c.42A>G, NM_001349216.2:c.-221A>G, NM_001349216.1:c.-221A>G, NM_001349219.2:c.-221A>G, NM_001349219.1:c.-221A>G, NM_001349223.2:c.-288A>G, NM_001349223.1:c.-288A>G, NM_001349214.2:c.42A>G, NM_001349214.1:c.42A>G, NM_001349209.2:c.42A>G, NM_001349209.1:c.42A>G, NM_001349217.2:c.-221A>G, NM_001349217.1:c.-221A>G, NM_001349215.2:c.42A>G, NM_001349215.1:c.42A>G, XM_011533268.2:c.42A>G, XM_011533268.1:c.42A>G, NM_001349218.2:c.-221A>G, NM_001349218.1:c.-221A>G, NM_001349211.2:c.42A>G, NM_001349211.1:c.42A>G, NM_001349230.2:c.42A>G, NM_001349230.1:c.42A>G, NM_001349228.2:c.42A>G, NM_001349228.1:c.42A>G, NM_001349229.2:c.42A>G, NM_001349229.1:c.42A>G, XM_047447265.1:c.42A>G, XM_047447267.1:c.42A>G

          5.

          rs1486189292 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            3:48970645 (GRCh38)
            3:49008078 (GRCh37)
            Canonical SPDI:
            NC_000003.12:48970644:T:G
            Gene:
            ARIH2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.48970645T>G, NC_000003.11:g.49008078T>G, NM_006321.4:c.711T>G, NM_006321.3:c.711T>G, NM_006321.2:c.711T>G, XM_024453309.2:c.711T>G, XM_024453309.1:c.711T>G, NR_146084.2:n.1151T>G, NR_146084.1:n.1173T>G, NM_001349220.2:c.495T>G, NM_001349220.1:c.495T>G, NR_146082.2:n.1151T>G, NR_146082.1:n.1173T>G, NM_001349210.2:c.711T>G, NM_001349210.1:c.711T>G, NM_001349225.2:c.459T>G, NM_001349225.1:c.459T>G, NM_001349213.2:c.711T>G, NM_001349213.1:c.711T>G, NR_146083.2:n.1029T>G, NR_146083.1:n.1051T>G, NM_001349222.2:c.459T>G, NM_001349222.1:c.459T>G, NM_001317333.2:c.711T>G, NM_001317333.1:c.711T>G, NM_001349216.2:c.495T>G, NM_001349216.1:c.495T>G, NM_001349219.2:c.495T>G, NM_001349219.1:c.495T>G, NM_001349223.2:c.459T>G, NM_001349223.1:c.459T>G, NM_001349214.2:c.711T>G, NM_001349214.1:c.711T>G, NM_001349209.2:c.711T>G, NM_001349209.1:c.711T>G, NM_001349217.2:c.495T>G, NM_001349217.1:c.495T>G, NM_001349215.2:c.711T>G, NM_001349215.1:c.711T>G, XM_011533268.2:c.711T>G, XM_011533268.1:c.711T>G, XM_017005535.2:c.495T>G, XM_017005535.1:c.495T>G, NM_001349218.2:c.495T>G, NM_001349218.1:c.495T>G, NM_001349211.2:c.711T>G, NM_001349211.1:c.711T>G, NM_001349227.2:c.162T>G, NM_001349227.1:c.162T>G, NR_146085.2:n.723T>G, NR_146085.1:n.745T>G, XM_011533271.2:c.495T>G, XM_011533271.1:c.495T>G, XM_017005534.2:c.495T>G, XM_017005534.1:c.495T>G, NM_001349221.2:c.495T>G, NM_001349221.1:c.495T>G, NM_001349224.2:c.459T>G, NM_001349224.1:c.459T>G, NM_001349226.2:c.459T>G, NM_001349226.1:c.459T>G, XM_024453311.2:c.285T>G, XM_024453311.1:c.285T>G, NM_001349212.2:c.285T>G, NM_001349212.1:c.285T>G, NM_001317334.2:c.285T>G, NM_001317334.1:c.285T>G, XM_047447265.1:c.711T>G, XM_047447267.1:c.711T>G, XM_047447278.1:c.459T>G, XM_047447283.1:c.459T>G, XM_047447284.1:c.495T>G, NP_006312.1:p.Ile237Met, XP_024309077.1:p.Ile237Met, NP_001336149.1:p.Ile165Met, NP_001336139.1:p.Ile237Met, NP_001336154.1:p.Ile153Met, NP_001336142.1:p.Ile237Met, NP_001336151.1:p.Ile153Met, NP_001304262.1:p.Ile237Met, NP_001336145.1:p.Ile165Met, NP_001336148.1:p.Ile165Met, NP_001336152.1:p.Ile153Met, NP_001336143.1:p.Ile237Met, NP_001336138.1:p.Ile237Met, NP_001336146.1:p.Ile165Met, NP_001336144.1:p.Ile237Met, XP_011531570.1:p.Ile237Met, XP_016861024.1:p.Ile165Met, NP_001336147.1:p.Ile165Met, NP_001336140.1:p.Ile237Met, NP_001336156.1:p.Ile54Met, XP_011531573.1:p.Ile165Met, XP_016861023.1:p.Ile165Met, NP_001336150.1:p.Ile165Met, NP_001336153.1:p.Ile153Met, NP_001336155.1:p.Ile153Met, XP_024309079.1:p.Ile95Met, NP_001336141.1:p.Ile95Met, NP_001304263.1:p.Ile95Met, XP_047303221.1:p.Ile237Met, XP_047303223.1:p.Ile237Met, XP_047303234.1:p.Ile153Met, XP_047303239.1:p.Ile153Met, XP_047303240.1:p.Ile165Met

            6.

            rs1484814794 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:48927705 (GRCh38)
              3:48965138 (GRCh37)
              Canonical SPDI:
              NC_000003.12:48927704:G:A
              Gene:
              ARIH2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.48927705G>A, NC_000003.11:g.48965138G>A, NM_006321.4:c.147G>A, NM_006321.3:c.147G>A, NM_006321.2:c.147G>A, XM_024453309.2:c.147G>A, XM_024453309.1:c.147G>A, NR_146084.2:n.587G>A, NR_146084.1:n.609G>A, NM_001349220.2:c.-270G>A, NM_001349220.1:c.-270G>A, NR_146082.2:n.587G>A, NR_146082.1:n.609G>A, NM_001349210.2:c.147G>A, NM_001349210.1:c.147G>A, NM_001349225.2:c.-183G>A, NM_001349225.1:c.-183G>A, NM_001349213.2:c.147G>A, NM_001349213.1:c.147G>A, NR_146083.2:n.465G>A, NR_146083.1:n.487G>A, NM_001349222.2:c.-183G>A, NM_001349222.1:c.-183G>A, NM_001317333.2:c.147G>A, NM_001317333.1:c.147G>A, NM_001349216.2:c.-116G>A, NM_001349216.1:c.-116G>A, NM_001349219.2:c.-116G>A, NM_001349219.1:c.-116G>A, NM_001349223.2:c.-183G>A, NM_001349223.1:c.-183G>A, NM_001349214.2:c.147G>A, NM_001349214.1:c.147G>A, NM_001349209.2:c.147G>A, NM_001349209.1:c.147G>A, NM_001349217.2:c.-116G>A, NM_001349217.1:c.-116G>A, NM_001349215.2:c.147G>A, NM_001349215.1:c.147G>A, XM_011533268.2:c.147G>A, XM_011533268.1:c.147G>A, NM_001349218.2:c.-116G>A, NM_001349218.1:c.-116G>A, NM_001349211.2:c.147G>A, NM_001349211.1:c.147G>A, NM_001349230.2:c.147G>A, NM_001349230.1:c.147G>A, NM_001349228.2:c.147G>A, NM_001349228.1:c.147G>A, NM_001349229.2:c.147G>A, NM_001349229.1:c.147G>A, XM_047447265.1:c.147G>A, XM_047447267.1:c.147G>A

              7.

              rs1482918422 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:48980448 (GRCh38)
                3:49017881 (GRCh37)
                Canonical SPDI:
                NC_000003.12:48980447:A:G
                Gene:
                ARIH2 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,synonymous_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)
                HGVS:
                NC_000003.12:g.48980448A>G, NC_000003.11:g.49017881A>G, NM_006321.4:c.1209A>G, NM_006321.3:c.1209A>G, NM_006321.2:c.1209A>G, XM_024453309.2:c.1209A>G, XM_024453309.1:c.1209A>G, NR_146084.2:n.1938A>G, NR_146084.1:n.1960A>G, NM_001349220.2:c.993A>G, NM_001349220.1:c.993A>G, NR_146082.2:n.1801A>G, NR_146082.1:n.1823A>G, NM_001349210.2:c.1209A>G, NM_001349210.1:c.1209A>G, NM_001349225.2:c.957A>G, NM_001349225.1:c.957A>G, NM_001349213.2:c.1278A>G, NM_001349213.1:c.1278A>G, NR_146083.2:n.1679A>G, NR_146083.1:n.1701A>G, NM_001349222.2:c.957A>G, NM_001349222.1:c.957A>G, NM_001317333.2:c.1209A>G, NM_001317333.1:c.1209A>G, NM_001349216.2:c.1062A>G, NM_001349216.1:c.1062A>G, NM_001349219.2:c.993A>G, NM_001349219.1:c.993A>G, NM_001349223.2:c.957A>G, NM_001349223.1:c.957A>G, NM_001349214.2:c.1278A>G, NM_001349214.1:c.1278A>G, NM_001349209.2:c.1209A>G, NM_001349209.1:c.1209A>G, NM_001349217.2:c.993A>G, NM_001349217.1:c.993A>G, NM_001349215.2:c.1209A>G, NM_001349215.1:c.1209A>G, XM_011533268.2:c.1278A>G, XM_011533268.1:c.1278A>G, XM_017005535.2:c.1062A>G, XM_017005535.1:c.1062A>G, NM_001349218.2:c.993A>G, NM_001349218.1:c.993A>G, NM_001349211.2:c.1209A>G, NM_001349211.1:c.1209A>G, NM_001349227.2:c.729A>G, NM_001349227.1:c.729A>G, NR_146085.2:n.1358A>G, NR_146085.1:n.1380A>G, XM_011533271.2:c.1062A>G, XM_011533271.1:c.1062A>G, XM_017005534.2:c.1062A>G, XM_017005534.1:c.1062A>G, NM_001349221.2:c.993A>G, NM_001349221.1:c.993A>G, NM_001349224.2:c.957A>G, NM_001349224.1:c.957A>G, NM_001349226.2:c.957A>G, NM_001349226.1:c.957A>G, XM_024453311.2:c.852A>G, XM_024453311.1:c.852A>G, NM_001349212.2:c.783A>G, NM_001349212.1:c.783A>G, NM_001317334.2:c.783A>G, NM_001317334.1:c.783A>G, XM_047447265.1:c.1278A>G, XM_047447267.1:c.1278A>G, XM_047447278.1:c.1026A>G, XM_047447283.1:c.1026A>G, XM_047447284.1:c.993A>G

                8.

                rs1481878203 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:48961668 (GRCh38)
                  3:48999101 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:48961667:G:A
                  Gene:
                  ARIH2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.48961668G>A, NC_000003.11:g.48999101G>A, NM_006321.4:c.312G>A, NM_006321.3:c.312G>A, NM_006321.2:c.312G>A, XM_024453309.2:c.312G>A, XM_024453309.1:c.312G>A, NR_146084.2:n.752G>A, NR_146084.1:n.774G>A, NM_001349220.2:c.96G>A, NM_001349220.1:c.96G>A, NR_146082.2:n.752G>A, NR_146082.1:n.774G>A, NM_001349210.2:c.312G>A, NM_001349210.1:c.312G>A, NM_001349225.2:c.60G>A, NM_001349225.1:c.60G>A, NM_001349213.2:c.312G>A, NM_001349213.1:c.312G>A, NR_146083.2:n.630G>A, NR_146083.1:n.652G>A, NM_001349222.2:c.60G>A, NM_001349222.1:c.60G>A, NM_001317333.2:c.312G>A, NM_001317333.1:c.312G>A, NM_001349216.2:c.96G>A, NM_001349216.1:c.96G>A, NM_001349219.2:c.96G>A, NM_001349219.1:c.96G>A, NM_001349223.2:c.60G>A, NM_001349223.1:c.60G>A, NM_001349214.2:c.312G>A, NM_001349214.1:c.312G>A, NM_001349209.2:c.312G>A, NM_001349209.1:c.312G>A, NM_001349217.2:c.96G>A, NM_001349217.1:c.96G>A, NM_001349215.2:c.312G>A, NM_001349215.1:c.312G>A, XM_011533268.2:c.312G>A, XM_011533268.1:c.312G>A, XM_017005535.2:c.96G>A, XM_017005535.1:c.96G>A, NM_001349218.2:c.96G>A, NM_001349218.1:c.96G>A, NM_001349211.2:c.312G>A, NM_001349211.1:c.312G>A, NM_001349227.2:c.-355G>A, NM_001349227.1:c.-355G>A, NR_146085.2:n.324G>A, NR_146085.1:n.346G>A, XM_011533271.2:c.96G>A, XM_011533271.1:c.96G>A, XM_017005534.2:c.96G>A, XM_017005534.1:c.96G>A, NM_001349221.2:c.96G>A, NM_001349221.1:c.96G>A, NM_001349224.2:c.60G>A, NM_001349224.1:c.60G>A, NM_001349226.2:c.60G>A, NM_001349226.1:c.60G>A, XM_024453311.2:c.-115G>A, XM_024453311.1:c.-115G>A, NM_001349212.2:c.-115G>A, NM_001349212.1:c.-115G>A, NM_001317334.2:c.-115G>A, NM_001317334.1:c.-115G>A, XM_047447265.1:c.312G>A, XM_047447267.1:c.312G>A, XM_047447278.1:c.60G>A, XM_047447283.1:c.60G>A, XM_047447284.1:c.96G>A

                  9.

                  rs1472921582 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:48973749 (GRCh38)
                    3:49011182 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:48973748:G:A
                    Gene:
                    ARIH2 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.48973749G>A, NC_000003.11:g.49011182G>A, NM_006321.4:c.821G>A, NM_006321.3:c.821G>A, NM_006321.2:c.821G>A, XM_024453309.2:c.821G>A, XM_024453309.1:c.821G>A, NR_146084.2:n.1398G>A, NR_146084.1:n.1420G>A, NM_001349220.2:c.605G>A, NM_001349220.1:c.605G>A, NR_146082.2:n.1261G>A, NR_146082.1:n.1283G>A, NM_001349210.2:c.821G>A, NM_001349210.1:c.821G>A, NM_001349225.2:c.569G>A, NM_001349225.1:c.569G>A, NM_001349213.2:c.821G>A, NM_001349213.1:c.821G>A, NR_146083.2:n.1139G>A, NR_146083.1:n.1161G>A, NM_001349222.2:c.569G>A, NM_001349222.1:c.569G>A, NM_001317333.2:c.821G>A, NM_001317333.1:c.821G>A, NM_001349216.2:c.605G>A, NM_001349216.1:c.605G>A, NM_001349219.2:c.605G>A, NM_001349219.1:c.605G>A, NM_001349223.2:c.569G>A, NM_001349223.1:c.569G>A, NM_001349214.2:c.821G>A, NM_001349214.1:c.821G>A, NM_001349209.2:c.821G>A, NM_001349209.1:c.821G>A, NM_001349217.2:c.605G>A, NM_001349217.1:c.605G>A, NM_001349215.2:c.821G>A, NM_001349215.1:c.821G>A, XM_011533268.2:c.821G>A, XM_011533268.1:c.821G>A, XM_017005535.2:c.605G>A, XM_017005535.1:c.605G>A, NM_001349218.2:c.605G>A, NM_001349218.1:c.605G>A, NM_001349211.2:c.821G>A, NM_001349211.1:c.821G>A, NM_001349227.2:c.272G>A, NM_001349227.1:c.272G>A, NR_146085.2:n.970G>A, NR_146085.1:n.992G>A, XM_011533271.2:c.605G>A, XM_011533271.1:c.605G>A, XM_017005534.2:c.605G>A, XM_017005534.1:c.605G>A, NM_001349221.2:c.605G>A, NM_001349221.1:c.605G>A, NM_001349224.2:c.569G>A, NM_001349224.1:c.569G>A, NM_001349226.2:c.569G>A, NM_001349226.1:c.569G>A, XM_024453311.2:c.395G>A, XM_024453311.1:c.395G>A, NM_001349212.2:c.395G>A, NM_001349212.1:c.395G>A, NM_001317334.2:c.395G>A, NM_001317334.1:c.395G>A, XM_047447265.1:c.821G>A, XM_047447267.1:c.821G>A, XM_047447278.1:c.569G>A, XM_047447283.1:c.569G>A, XM_047447284.1:c.605G>A, NP_006312.1:p.Arg274Gln, XP_024309077.1:p.Arg274Gln, NP_001336149.1:p.Arg202Gln, NP_001336139.1:p.Arg274Gln, NP_001336154.1:p.Arg190Gln, NP_001336142.1:p.Arg274Gln, NP_001336151.1:p.Arg190Gln, NP_001304262.1:p.Arg274Gln, NP_001336145.1:p.Arg202Gln, NP_001336148.1:p.Arg202Gln, NP_001336152.1:p.Arg190Gln, NP_001336143.1:p.Arg274Gln, NP_001336138.1:p.Arg274Gln, NP_001336146.1:p.Arg202Gln, NP_001336144.1:p.Arg274Gln, XP_011531570.1:p.Arg274Gln, XP_016861024.1:p.Arg202Gln, NP_001336147.1:p.Arg202Gln, NP_001336140.1:p.Arg274Gln, NP_001336156.1:p.Arg91Gln, XP_011531573.1:p.Arg202Gln, XP_016861023.1:p.Arg202Gln, NP_001336150.1:p.Arg202Gln, NP_001336153.1:p.Arg190Gln, NP_001336155.1:p.Arg190Gln, XP_024309079.1:p.Arg132Gln, NP_001336141.1:p.Arg132Gln, NP_001304263.1:p.Arg132Gln, XP_047303221.1:p.Arg274Gln, XP_047303223.1:p.Arg274Gln, XP_047303234.1:p.Arg190Gln, XP_047303239.1:p.Arg190Gln, XP_047303240.1:p.Arg202Gln

                    10.

                    rs1468395761 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:48980475 (GRCh38)
                      3:49017908 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:48980474:T:C
                      Gene:
                      ARIH2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000003.12:g.48980475T>C, NC_000003.11:g.49017908T>C, NM_006321.4:c.1236T>C, NM_006321.3:c.1236T>C, NM_006321.2:c.1236T>C, XM_024453309.2:c.1236T>C, XM_024453309.1:c.1236T>C, NR_146084.2:n.1965T>C, NR_146084.1:n.1987T>C, NM_001349220.2:c.1020T>C, NM_001349220.1:c.1020T>C, NR_146082.2:n.1828T>C, NR_146082.1:n.1850T>C, NM_001349210.2:c.1236T>C, NM_001349210.1:c.1236T>C, NM_001349225.2:c.984T>C, NM_001349225.1:c.984T>C, NM_001349213.2:c.1305T>C, NM_001349213.1:c.1305T>C, NR_146083.2:n.1706T>C, NR_146083.1:n.1728T>C, NM_001349222.2:c.984T>C, NM_001349222.1:c.984T>C, NM_001317333.2:c.1236T>C, NM_001317333.1:c.1236T>C, NM_001349216.2:c.1089T>C, NM_001349216.1:c.1089T>C, NM_001349219.2:c.1020T>C, NM_001349219.1:c.1020T>C, NM_001349223.2:c.984T>C, NM_001349223.1:c.984T>C, NM_001349214.2:c.1305T>C, NM_001349214.1:c.1305T>C, NM_001349209.2:c.1236T>C, NM_001349209.1:c.1236T>C, NM_001349217.2:c.1020T>C, NM_001349217.1:c.1020T>C, NM_001349215.2:c.1236T>C, NM_001349215.1:c.1236T>C, XM_011533268.2:c.1305T>C, XM_011533268.1:c.1305T>C, XM_017005535.2:c.1089T>C, XM_017005535.1:c.1089T>C, NM_001349218.2:c.1020T>C, NM_001349218.1:c.1020T>C, NM_001349211.2:c.1236T>C, NM_001349211.1:c.1236T>C, NM_001349227.2:c.756T>C, NM_001349227.1:c.756T>C, NR_146085.2:n.1385T>C, NR_146085.1:n.1407T>C, XM_011533271.2:c.1089T>C, XM_011533271.1:c.1089T>C, XM_017005534.2:c.1089T>C, XM_017005534.1:c.1089T>C, NM_001349221.2:c.1020T>C, NM_001349221.1:c.1020T>C, NM_001349224.2:c.984T>C, NM_001349224.1:c.984T>C, NM_001349226.2:c.984T>C, NM_001349226.1:c.984T>C, XM_024453311.2:c.879T>C, XM_024453311.1:c.879T>C, NM_001349212.2:c.810T>C, NM_001349212.1:c.810T>C, NM_001317334.2:c.810T>C, NM_001317334.1:c.810T>C, XM_047447265.1:c.1305T>C, XM_047447267.1:c.1305T>C, XM_047447278.1:c.1053T>C, XM_047447283.1:c.1053T>C, XM_047447284.1:c.1020T>C

                      11.

                      rs1458040612 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:48981689 (GRCh38)
                        3:49019122 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:48981688:A:G
                        Gene:
                        ARIH2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (GnomAD_exomes)
                        G=0.000014/2 (GnomAD)
                        G=0.000023/6 (TOPMED)
                        HGVS:
                        NC_000003.12:g.48981689A>G, NC_000003.11:g.49019122A>G, NM_006321.4:c.1287A>G, NM_006321.3:c.1287A>G, NM_006321.2:c.1287A>G, XM_024453309.2:c.1287A>G, XM_024453309.1:c.1287A>G, NR_146084.2:n.2016A>G, NR_146084.1:n.2038A>G, NM_001349220.2:c.1071A>G, NM_001349220.1:c.1071A>G, NR_146082.2:n.1879A>G, NR_146082.1:n.1901A>G, NM_001349210.2:c.1287A>G, NM_001349210.1:c.1287A>G, NM_001349225.2:c.1035A>G, NM_001349225.1:c.1035A>G, NM_001349213.2:c.1356A>G, NM_001349213.1:c.1356A>G, NR_146083.2:n.1757A>G, NR_146083.1:n.1779A>G, NM_001349222.2:c.1035A>G, NM_001349222.1:c.1035A>G, NM_001317333.2:c.1287A>G, NM_001317333.1:c.1287A>G, NM_001349216.2:c.1140A>G, NM_001349216.1:c.1140A>G, NM_001349219.2:c.1071A>G, NM_001349219.1:c.1071A>G, NM_001349223.2:c.1035A>G, NM_001349223.1:c.1035A>G, NM_001349214.2:c.1356A>G, NM_001349214.1:c.1356A>G, NM_001349209.2:c.1287A>G, NM_001349209.1:c.1287A>G, NM_001349217.2:c.1071A>G, NM_001349217.1:c.1071A>G, NM_001349215.2:c.1313A>G, NM_001349215.1:c.1313A>G, XM_011533268.2:c.1356A>G, XM_011533268.1:c.1356A>G, XM_017005535.2:c.1140A>G, XM_017005535.1:c.1140A>G, NM_001349218.2:c.1071A>G, NM_001349218.1:c.1071A>G, NM_001349211.2:c.1287A>G, NM_001349211.1:c.1287A>G, NM_001349227.2:c.807A>G, NM_001349227.1:c.807A>G, NR_146085.2:n.1436A>G, NR_146085.1:n.1458A>G, XM_011533271.2:c.1140A>G, XM_011533271.1:c.1140A>G, XM_017005534.2:c.1140A>G, XM_017005534.1:c.1140A>G, NM_001349221.2:c.1071A>G, NM_001349221.1:c.1071A>G, NM_001349224.2:c.1035A>G, NM_001349224.1:c.1035A>G, NM_001349226.2:c.1035A>G, NM_001349226.1:c.1035A>G, XM_024453311.2:c.930A>G, XM_024453311.1:c.930A>G, NM_001349212.2:c.861A>G, NM_001349212.1:c.861A>G, NM_001317334.2:c.861A>G, NM_001317334.1:c.861A>G, XM_047447265.1:c.1356A>G, XM_047447267.1:c.1356A>G, XM_047447278.1:c.1104A>G, XM_047447283.1:c.1104A>G, XM_047447284.1:c.1071A>G, NP_001336144.1:p.His438Arg

                        12.

                        rs1456799532 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:48967157 (GRCh38)
                          3:49004590 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:48967156:A:G
                          Gene:
                          ARIH2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000003.12:g.48967157A>G, NC_000003.11:g.49004590A>G, NM_006321.4:c.420A>G, NM_006321.3:c.420A>G, NM_006321.2:c.420A>G, XM_024453309.2:c.420A>G, XM_024453309.1:c.420A>G, NR_146084.2:n.860A>G, NR_146084.1:n.882A>G, NM_001349220.2:c.204A>G, NM_001349220.1:c.204A>G, NR_146082.2:n.860A>G, NR_146082.1:n.882A>G, NM_001349210.2:c.420A>G, NM_001349210.1:c.420A>G, NM_001349225.2:c.168A>G, NM_001349225.1:c.168A>G, NM_001349213.2:c.420A>G, NM_001349213.1:c.420A>G, NR_146083.2:n.738A>G, NR_146083.1:n.760A>G, NM_001349222.2:c.168A>G, NM_001349222.1:c.168A>G, NM_001317333.2:c.420A>G, NM_001317333.1:c.420A>G, NM_001349216.2:c.204A>G, NM_001349216.1:c.204A>G, NM_001349219.2:c.204A>G, NM_001349219.1:c.204A>G, NM_001349223.2:c.168A>G, NM_001349223.1:c.168A>G, NM_001349214.2:c.420A>G, NM_001349214.1:c.420A>G, NM_001349209.2:c.420A>G, NM_001349209.1:c.420A>G, NM_001349217.2:c.204A>G, NM_001349217.1:c.204A>G, NM_001349215.2:c.420A>G, NM_001349215.1:c.420A>G, XM_011533268.2:c.420A>G, XM_011533268.1:c.420A>G, XM_017005535.2:c.204A>G, XM_017005535.1:c.204A>G, NM_001349218.2:c.204A>G, NM_001349218.1:c.204A>G, NM_001349211.2:c.420A>G, NM_001349211.1:c.420A>G, NM_001349227.2:c.-247A>G, NM_001349227.1:c.-247A>G, NR_146085.2:n.432A>G, NR_146085.1:n.454A>G, XM_011533271.2:c.204A>G, XM_011533271.1:c.204A>G, XM_017005534.2:c.204A>G, XM_017005534.1:c.204A>G, NM_001349221.2:c.204A>G, NM_001349221.1:c.204A>G, NM_001349224.2:c.168A>G, NM_001349224.1:c.168A>G, NM_001349226.2:c.168A>G, NM_001349226.1:c.168A>G, XM_024453311.2:c.-7A>G, XM_024453311.1:c.-7A>G, NM_001349212.2:c.-7A>G, NM_001349212.1:c.-7A>G, NM_001317334.2:c.-7A>G, NM_001317334.1:c.-7A>G, XM_047447265.1:c.420A>G, XM_047447267.1:c.420A>G, XM_047447278.1:c.168A>G, XM_047447283.1:c.168A>G, XM_047447284.1:c.204A>G

                          13.

                          rs1455390747 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            3:48961657 (GRCh38)
                            3:48999090 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:48961656:C:G
                            Gene:
                            ARIH2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_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=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000003.12:g.48961657C>G, NC_000003.11:g.48999090C>G, NM_006321.4:c.301C>G, NM_006321.3:c.301C>G, NM_006321.2:c.301C>G, XM_024453309.2:c.301C>G, XM_024453309.1:c.301C>G, NR_146084.2:n.741C>G, NR_146084.1:n.763C>G, NM_001349220.2:c.85C>G, NM_001349220.1:c.85C>G, NR_146082.2:n.741C>G, NR_146082.1:n.763C>G, NM_001349210.2:c.301C>G, NM_001349210.1:c.301C>G, NM_001349225.2:c.49C>G, NM_001349225.1:c.49C>G, NM_001349213.2:c.301C>G, NM_001349213.1:c.301C>G, NR_146083.2:n.619C>G, NR_146083.1:n.641C>G, NM_001349222.2:c.49C>G, NM_001349222.1:c.49C>G, NM_001317333.2:c.301C>G, NM_001317333.1:c.301C>G, NM_001349216.2:c.85C>G, NM_001349216.1:c.85C>G, NM_001349219.2:c.85C>G, NM_001349219.1:c.85C>G, NM_001349223.2:c.49C>G, NM_001349223.1:c.49C>G, NM_001349214.2:c.301C>G, NM_001349214.1:c.301C>G, NM_001349209.2:c.301C>G, NM_001349209.1:c.301C>G, NM_001349217.2:c.85C>G, NM_001349217.1:c.85C>G, NM_001349215.2:c.301C>G, NM_001349215.1:c.301C>G, XM_011533268.2:c.301C>G, XM_011533268.1:c.301C>G, XM_017005535.2:c.85C>G, XM_017005535.1:c.85C>G, NM_001349218.2:c.85C>G, NM_001349218.1:c.85C>G, NM_001349211.2:c.301C>G, NM_001349211.1:c.301C>G, NM_001349227.2:c.-366C>G, NM_001349227.1:c.-366C>G, NR_146085.2:n.313C>G, NR_146085.1:n.335C>G, XM_011533271.2:c.85C>G, XM_011533271.1:c.85C>G, XM_017005534.2:c.85C>G, XM_017005534.1:c.85C>G, NM_001349221.2:c.85C>G, NM_001349221.1:c.85C>G, NM_001349224.2:c.49C>G, NM_001349224.1:c.49C>G, NM_001349226.2:c.49C>G, NM_001349226.1:c.49C>G, XM_024453311.2:c.-126C>G, XM_024453311.1:c.-126C>G, NM_001349212.2:c.-126C>G, NM_001349212.1:c.-126C>G, NM_001317334.2:c.-126C>G, NM_001317334.1:c.-126C>G, XM_047447265.1:c.301C>G, XM_047447267.1:c.301C>G, XM_047447278.1:c.49C>G, XM_047447283.1:c.49C>G, XM_047447284.1:c.85C>G, NP_006312.1:p.Gln101Glu, XP_024309077.1:p.Gln101Glu, NP_001336149.1:p.Gln29Glu, NP_001336139.1:p.Gln101Glu, NP_001336154.1:p.Gln17Glu, NP_001336142.1:p.Gln101Glu, NP_001336151.1:p.Gln17Glu, NP_001304262.1:p.Gln101Glu, NP_001336145.1:p.Gln29Glu, NP_001336148.1:p.Gln29Glu, NP_001336152.1:p.Gln17Glu, NP_001336143.1:p.Gln101Glu, NP_001336138.1:p.Gln101Glu, NP_001336146.1:p.Gln29Glu, NP_001336144.1:p.Gln101Glu, XP_011531570.1:p.Gln101Glu, XP_016861024.1:p.Gln29Glu, NP_001336147.1:p.Gln29Glu, NP_001336140.1:p.Gln101Glu, XP_011531573.1:p.Gln29Glu, XP_016861023.1:p.Gln29Glu, NP_001336150.1:p.Gln29Glu, NP_001336153.1:p.Gln17Glu, NP_001336155.1:p.Gln17Glu, XP_047303221.1:p.Gln101Glu, XP_047303223.1:p.Gln101Glu, XP_047303234.1:p.Gln17Glu, XP_047303239.1:p.Gln17Glu, XP_047303240.1:p.Gln29Glu

                            14.

                            rs1447866998 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:48970657 (GRCh38)
                              3:49008090 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:48970656:G:A
                              Gene:
                              ARIH2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.48970657G>A, NC_000003.11:g.49008090G>A, NM_006321.4:c.723G>A, NM_006321.3:c.723G>A, NM_006321.2:c.723G>A, XM_024453309.2:c.723G>A, XM_024453309.1:c.723G>A, NR_146084.2:n.1163G>A, NR_146084.1:n.1185G>A, NM_001349220.2:c.507G>A, NM_001349220.1:c.507G>A, NR_146082.2:n.1163G>A, NR_146082.1:n.1185G>A, NM_001349210.2:c.723G>A, NM_001349210.1:c.723G>A, NM_001349225.2:c.471G>A, NM_001349225.1:c.471G>A, NM_001349213.2:c.723G>A, NM_001349213.1:c.723G>A, NR_146083.2:n.1041G>A, NR_146083.1:n.1063G>A, NM_001349222.2:c.471G>A, NM_001349222.1:c.471G>A, NM_001317333.2:c.723G>A, NM_001317333.1:c.723G>A, NM_001349216.2:c.507G>A, NM_001349216.1:c.507G>A, NM_001349219.2:c.507G>A, NM_001349219.1:c.507G>A, NM_001349223.2:c.471G>A, NM_001349223.1:c.471G>A, NM_001349214.2:c.723G>A, NM_001349214.1:c.723G>A, NM_001349209.2:c.723G>A, NM_001349209.1:c.723G>A, NM_001349217.2:c.507G>A, NM_001349217.1:c.507G>A, NM_001349215.2:c.723G>A, NM_001349215.1:c.723G>A, XM_011533268.2:c.723G>A, XM_011533268.1:c.723G>A, XM_017005535.2:c.507G>A, XM_017005535.1:c.507G>A, NM_001349218.2:c.507G>A, NM_001349218.1:c.507G>A, NM_001349211.2:c.723G>A, NM_001349211.1:c.723G>A, NM_001349227.2:c.174G>A, NM_001349227.1:c.174G>A, NR_146085.2:n.735G>A, NR_146085.1:n.757G>A, XM_011533271.2:c.507G>A, XM_011533271.1:c.507G>A, XM_017005534.2:c.507G>A, XM_017005534.1:c.507G>A, NM_001349221.2:c.507G>A, NM_001349221.1:c.507G>A, NM_001349224.2:c.471G>A, NM_001349224.1:c.471G>A, NM_001349226.2:c.471G>A, NM_001349226.1:c.471G>A, XM_024453311.2:c.297G>A, XM_024453311.1:c.297G>A, NM_001349212.2:c.297G>A, NM_001349212.1:c.297G>A, NM_001317334.2:c.297G>A, NM_001317334.1:c.297G>A, XM_047447265.1:c.723G>A, XM_047447267.1:c.723G>A, XM_047447278.1:c.471G>A, XM_047447283.1:c.471G>A, XM_047447284.1:c.507G>A

                              15.

                              rs1445890506 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                3:48970675 (GRCh38)
                                3:49008108 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:48970674:A:G
                                Gene:
                                ARIH2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000028/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000003.12:g.48970675A>G, NC_000003.11:g.49008108A>G, NM_006321.4:c.741A>G, NM_006321.3:c.741A>G, NM_006321.2:c.741A>G, XM_024453309.2:c.741A>G, XM_024453309.1:c.741A>G, NR_146084.2:n.1181A>G, NR_146084.1:n.1203A>G, NM_001349220.2:c.525A>G, NM_001349220.1:c.525A>G, NR_146082.2:n.1181A>G, NR_146082.1:n.1203A>G, NM_001349210.2:c.741A>G, NM_001349210.1:c.741A>G, NM_001349225.2:c.489A>G, NM_001349225.1:c.489A>G, NM_001349213.2:c.741A>G, NM_001349213.1:c.741A>G, NR_146083.2:n.1059A>G, NR_146083.1:n.1081A>G, NM_001349222.2:c.489A>G, NM_001349222.1:c.489A>G, NM_001317333.2:c.741A>G, NM_001317333.1:c.741A>G, NM_001349216.2:c.525A>G, NM_001349216.1:c.525A>G, NM_001349219.2:c.525A>G, NM_001349219.1:c.525A>G, NM_001349223.2:c.489A>G, NM_001349223.1:c.489A>G, NM_001349214.2:c.741A>G, NM_001349214.1:c.741A>G, NM_001349209.2:c.741A>G, NM_001349209.1:c.741A>G, NM_001349217.2:c.525A>G, NM_001349217.1:c.525A>G, NM_001349215.2:c.741A>G, NM_001349215.1:c.741A>G, XM_011533268.2:c.741A>G, XM_011533268.1:c.741A>G, XM_017005535.2:c.525A>G, XM_017005535.1:c.525A>G, NM_001349218.2:c.525A>G, NM_001349218.1:c.525A>G, NM_001349211.2:c.741A>G, NM_001349211.1:c.741A>G, NM_001349227.2:c.192A>G, NM_001349227.1:c.192A>G, NR_146085.2:n.753A>G, NR_146085.1:n.775A>G, XM_011533271.2:c.525A>G, XM_011533271.1:c.525A>G, XM_017005534.2:c.525A>G, XM_017005534.1:c.525A>G, NM_001349221.2:c.525A>G, NM_001349221.1:c.525A>G, NM_001349224.2:c.489A>G, NM_001349224.1:c.489A>G, NM_001349226.2:c.489A>G, NM_001349226.1:c.489A>G, XM_024453311.2:c.315A>G, XM_024453311.1:c.315A>G, NM_001349212.2:c.315A>G, NM_001349212.1:c.315A>G, NM_001317334.2:c.315A>G, NM_001317334.1:c.315A>G, XM_047447265.1:c.741A>G, XM_047447267.1:c.741A>G, XM_047447278.1:c.489A>G, XM_047447283.1:c.489A>G, XM_047447284.1:c.525A>G

                                16.

                                rs1443845395 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:48964936 (GRCh38)
                                  3:49002369 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:48964935:C:T
                                  Gene:
                                  ARIH2 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.48964936C>T, NC_000003.11:g.49002369C>T, NM_006321.4:c.341C>T, NM_006321.3:c.341C>T, NM_006321.2:c.341C>T, XM_024453309.2:c.341C>T, XM_024453309.1:c.341C>T, NR_146084.2:n.781C>T, NR_146084.1:n.803C>T, NM_001349220.2:c.125C>T, NM_001349220.1:c.125C>T, NR_146082.2:n.781C>T, NR_146082.1:n.803C>T, NM_001349210.2:c.341C>T, NM_001349210.1:c.341C>T, NM_001349225.2:c.89C>T, NM_001349225.1:c.89C>T, NM_001349213.2:c.341C>T, NM_001349213.1:c.341C>T, NR_146083.2:n.659C>T, NR_146083.1:n.681C>T, NM_001349222.2:c.89C>T, NM_001349222.1:c.89C>T, NM_001317333.2:c.341C>T, NM_001317333.1:c.341C>T, NM_001349216.2:c.125C>T, NM_001349216.1:c.125C>T, NM_001349219.2:c.125C>T, NM_001349219.1:c.125C>T, NM_001349223.2:c.89C>T, NM_001349223.1:c.89C>T, NM_001349214.2:c.341C>T, NM_001349214.1:c.341C>T, NM_001349209.2:c.341C>T, NM_001349209.1:c.341C>T, NM_001349217.2:c.125C>T, NM_001349217.1:c.125C>T, NM_001349215.2:c.341C>T, NM_001349215.1:c.341C>T, XM_011533268.2:c.341C>T, XM_011533268.1:c.341C>T, XM_017005535.2:c.125C>T, XM_017005535.1:c.125C>T, NM_001349218.2:c.125C>T, NM_001349218.1:c.125C>T, NM_001349211.2:c.341C>T, NM_001349211.1:c.341C>T, NM_001349227.2:c.-326C>T, NM_001349227.1:c.-326C>T, NR_146085.2:n.353C>T, NR_146085.1:n.375C>T, XM_011533271.2:c.125C>T, XM_011533271.1:c.125C>T, XM_017005534.2:c.125C>T, XM_017005534.1:c.125C>T, NM_001349221.2:c.125C>T, NM_001349221.1:c.125C>T, NM_001349224.2:c.89C>T, NM_001349224.1:c.89C>T, NM_001349226.2:c.89C>T, NM_001349226.1:c.89C>T, XM_024453311.2:c.-86C>T, XM_024453311.1:c.-86C>T, NM_001349212.2:c.-86C>T, NM_001349212.1:c.-86C>T, NM_001317334.2:c.-86C>T, NM_001317334.1:c.-86C>T, XM_047447265.1:c.341C>T, XM_047447267.1:c.341C>T, XM_047447278.1:c.89C>T, XM_047447283.1:c.89C>T, XM_047447284.1:c.125C>T, NP_006312.1:p.Ala114Val, XP_024309077.1:p.Ala114Val, NP_001336149.1:p.Ala42Val, NP_001336139.1:p.Ala114Val, NP_001336154.1:p.Ala30Val, NP_001336142.1:p.Ala114Val, NP_001336151.1:p.Ala30Val, NP_001304262.1:p.Ala114Val, NP_001336145.1:p.Ala42Val, NP_001336148.1:p.Ala42Val, NP_001336152.1:p.Ala30Val, NP_001336143.1:p.Ala114Val, NP_001336138.1:p.Ala114Val, NP_001336146.1:p.Ala42Val, NP_001336144.1:p.Ala114Val, XP_011531570.1:p.Ala114Val, XP_016861024.1:p.Ala42Val, NP_001336147.1:p.Ala42Val, NP_001336140.1:p.Ala114Val, XP_011531573.1:p.Ala42Val, XP_016861023.1:p.Ala42Val, NP_001336150.1:p.Ala42Val, NP_001336153.1:p.Ala30Val, NP_001336155.1:p.Ala30Val, XP_047303221.1:p.Ala114Val, XP_047303223.1:p.Ala114Val, XP_047303234.1:p.Ala30Val, XP_047303239.1:p.Ala30Val, XP_047303240.1:p.Ala42Val

                                  17.

                                  rs1441295606 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:48970612 (GRCh38)
                                    3:49008045 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:48970611:G:A
                                    Gene:
                                    ARIH2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    NC_000003.12:g.48970612G>A, NC_000003.11:g.49008045G>A, NM_006321.4:c.678G>A, NM_006321.3:c.678G>A, NM_006321.2:c.678G>A, XM_024453309.2:c.678G>A, XM_024453309.1:c.678G>A, NR_146084.2:n.1118G>A, NR_146084.1:n.1140G>A, NM_001349220.2:c.462G>A, NM_001349220.1:c.462G>A, NR_146082.2:n.1118G>A, NR_146082.1:n.1140G>A, NM_001349210.2:c.678G>A, NM_001349210.1:c.678G>A, NM_001349225.2:c.426G>A, NM_001349225.1:c.426G>A, NM_001349213.2:c.678G>A, NM_001349213.1:c.678G>A, NR_146083.2:n.996G>A, NR_146083.1:n.1018G>A, NM_001349222.2:c.426G>A, NM_001349222.1:c.426G>A, NM_001317333.2:c.678G>A, NM_001317333.1:c.678G>A, NM_001349216.2:c.462G>A, NM_001349216.1:c.462G>A, NM_001349219.2:c.462G>A, NM_001349219.1:c.462G>A, NM_001349223.2:c.426G>A, NM_001349223.1:c.426G>A, NM_001349214.2:c.678G>A, NM_001349214.1:c.678G>A, NM_001349209.2:c.678G>A, NM_001349209.1:c.678G>A, NM_001349217.2:c.462G>A, NM_001349217.1:c.462G>A, NM_001349215.2:c.678G>A, NM_001349215.1:c.678G>A, XM_011533268.2:c.678G>A, XM_011533268.1:c.678G>A, XM_017005535.2:c.462G>A, XM_017005535.1:c.462G>A, NM_001349218.2:c.462G>A, NM_001349218.1:c.462G>A, NM_001349211.2:c.678G>A, NM_001349211.1:c.678G>A, NM_001349227.2:c.129G>A, NM_001349227.1:c.129G>A, NR_146085.2:n.690G>A, NR_146085.1:n.712G>A, XM_011533271.2:c.462G>A, XM_011533271.1:c.462G>A, XM_017005534.2:c.462G>A, XM_017005534.1:c.462G>A, NM_001349221.2:c.462G>A, NM_001349221.1:c.462G>A, NM_001349224.2:c.426G>A, NM_001349224.1:c.426G>A, NM_001349226.2:c.426G>A, NM_001349226.1:c.426G>A, XM_024453311.2:c.252G>A, XM_024453311.1:c.252G>A, NM_001349212.2:c.252G>A, NM_001349212.1:c.252G>A, NM_001317334.2:c.252G>A, NM_001317334.1:c.252G>A, XM_047447265.1:c.678G>A, XM_047447267.1:c.678G>A, XM_047447278.1:c.426G>A, XM_047447283.1:c.426G>A, XM_047447284.1:c.462G>A

                                    18.

                                    rs1437016594 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:48983234 (GRCh38)
                                      3:49020667 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:48983233:G:A
                                      Gene:
                                      ARIH2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.48983234G>A, NC_000003.11:g.49020667G>A, NM_006321.4:c.1446G>A, NM_006321.3:c.1446G>A, NM_006321.2:c.1446G>A, XM_024453309.2:c.1446G>A, XM_024453309.1:c.1446G>A, NR_146084.2:n.2175G>A, NR_146084.1:n.2197G>A, NM_001349220.2:c.1230G>A, NM_001349220.1:c.1230G>A, NR_146082.2:n.2038G>A, NR_146082.1:n.2060G>A, NM_001349210.2:c.1446G>A, NM_001349210.1:c.1446G>A, NM_001349225.2:c.1194G>A, NM_001349225.1:c.1194G>A, NM_001349213.2:c.1515G>A, NM_001349213.1:c.1515G>A, NR_146083.2:n.1916G>A, NR_146083.1:n.1938G>A, NM_001349222.2:c.1194G>A, NM_001349222.1:c.1194G>A, NM_001317333.2:c.1446G>A, NM_001317333.1:c.1446G>A, NM_001349216.2:c.1299G>A, NM_001349216.1:c.1299G>A, NM_001349219.2:c.1230G>A, NM_001349219.1:c.1230G>A, NM_001349223.2:c.1194G>A, NM_001349223.1:c.1194G>A, NM_001349214.2:c.1515G>A, NM_001349214.1:c.1515G>A, NM_001349209.2:c.1446G>A, NM_001349209.1:c.1446G>A, NM_001349217.2:c.1230G>A, NM_001349217.1:c.1230G>A, NM_001349215.2:c.*11G>A, NM_001349215.1:c.*11G>A, XM_011533268.2:c.1515G>A, XM_011533268.1:c.1515G>A, XM_017005535.2:c.1299G>A, XM_017005535.1:c.1299G>A, NM_001349218.2:c.1230G>A, NM_001349218.1:c.1230G>A, NM_001349211.2:c.1446G>A, NM_001349211.1:c.1446G>A, NM_001349227.2:c.966G>A, NM_001349227.1:c.966G>A, NR_146085.2:n.1595G>A, NR_146085.1:n.1617G>A, XM_011533271.2:c.1299G>A, XM_011533271.1:c.1299G>A, XM_017005534.2:c.1299G>A, XM_017005534.1:c.1299G>A, NM_001349221.2:c.1230G>A, NM_001349221.1:c.1230G>A, NM_001349224.2:c.1194G>A, NM_001349224.1:c.1194G>A, NM_001349226.2:c.1194G>A, NM_001349226.1:c.1194G>A, XM_024453311.2:c.1089G>A, XM_024453311.1:c.1089G>A, NM_001349212.2:c.1020G>A, NM_001349212.1:c.1020G>A, NM_001317334.2:c.1020G>A, NM_001317334.1:c.1020G>A, XM_047447265.1:c.1515G>A, XM_047447267.1:c.1515G>A, XM_047447278.1:c.1263G>A, XM_047447283.1:c.1263G>A, XM_047447284.1:c.1230G>A

                                      19.

                                      rs1436550025 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:48970692 (GRCh38)
                                        3:49008125 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:48970691:A:G
                                        Gene:
                                        ARIH2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.48970692A>G, NC_000003.11:g.49008125A>G, NM_006321.4:c.758A>G, NM_006321.3:c.758A>G, NM_006321.2:c.758A>G, XM_024453309.2:c.758A>G, XM_024453309.1:c.758A>G, NR_146084.2:n.1198A>G, NR_146084.1:n.1220A>G, NM_001349220.2:c.542A>G, NM_001349220.1:c.542A>G, NR_146082.2:n.1198A>G, NR_146082.1:n.1220A>G, NM_001349210.2:c.758A>G, NM_001349210.1:c.758A>G, NM_001349225.2:c.506A>G, NM_001349225.1:c.506A>G, NM_001349213.2:c.758A>G, NM_001349213.1:c.758A>G, NR_146083.2:n.1076A>G, NR_146083.1:n.1098A>G, NM_001349222.2:c.506A>G, NM_001349222.1:c.506A>G, NM_001317333.2:c.758A>G, NM_001317333.1:c.758A>G, NM_001349216.2:c.542A>G, NM_001349216.1:c.542A>G, NM_001349219.2:c.542A>G, NM_001349219.1:c.542A>G, NM_001349223.2:c.506A>G, NM_001349223.1:c.506A>G, NM_001349214.2:c.758A>G, NM_001349214.1:c.758A>G, NM_001349209.2:c.758A>G, NM_001349209.1:c.758A>G, NM_001349217.2:c.542A>G, NM_001349217.1:c.542A>G, NM_001349215.2:c.758A>G, NM_001349215.1:c.758A>G, XM_011533268.2:c.758A>G, XM_011533268.1:c.758A>G, XM_017005535.2:c.542A>G, XM_017005535.1:c.542A>G, NM_001349218.2:c.542A>G, NM_001349218.1:c.542A>G, NM_001349211.2:c.758A>G, NM_001349211.1:c.758A>G, NM_001349227.2:c.209A>G, NM_001349227.1:c.209A>G, NR_146085.2:n.770A>G, NR_146085.1:n.792A>G, XM_011533271.2:c.542A>G, XM_011533271.1:c.542A>G, XM_017005534.2:c.542A>G, XM_017005534.1:c.542A>G, NM_001349221.2:c.542A>G, NM_001349221.1:c.542A>G, NM_001349224.2:c.506A>G, NM_001349224.1:c.506A>G, NM_001349226.2:c.506A>G, NM_001349226.1:c.506A>G, XM_024453311.2:c.332A>G, XM_024453311.1:c.332A>G, NM_001349212.2:c.332A>G, NM_001349212.1:c.332A>G, NM_001317334.2:c.332A>G, NM_001317334.1:c.332A>G, XM_047447265.1:c.758A>G, XM_047447267.1:c.758A>G, XM_047447278.1:c.506A>G, XM_047447283.1:c.506A>G, XM_047447284.1:c.542A>G, NP_006312.1:p.Asn253Ser, XP_024309077.1:p.Asn253Ser, NP_001336149.1:p.Asn181Ser, NP_001336139.1:p.Asn253Ser, NP_001336154.1:p.Asn169Ser, NP_001336142.1:p.Asn253Ser, NP_001336151.1:p.Asn169Ser, NP_001304262.1:p.Asn253Ser, NP_001336145.1:p.Asn181Ser, NP_001336148.1:p.Asn181Ser, NP_001336152.1:p.Asn169Ser, NP_001336143.1:p.Asn253Ser, NP_001336138.1:p.Asn253Ser, NP_001336146.1:p.Asn181Ser, NP_001336144.1:p.Asn253Ser, XP_011531570.1:p.Asn253Ser, XP_016861024.1:p.Asn181Ser, NP_001336147.1:p.Asn181Ser, NP_001336140.1:p.Asn253Ser, NP_001336156.1:p.Asn70Ser, XP_011531573.1:p.Asn181Ser, XP_016861023.1:p.Asn181Ser, NP_001336150.1:p.Asn181Ser, NP_001336153.1:p.Asn169Ser, NP_001336155.1:p.Asn169Ser, XP_024309079.1:p.Asn111Ser, NP_001336141.1:p.Asn111Ser, NP_001304263.1:p.Asn111Ser, XP_047303221.1:p.Asn253Ser, XP_047303223.1:p.Asn253Ser, XP_047303234.1:p.Asn169Ser, XP_047303239.1:p.Asn169Ser, XP_047303240.1:p.Asn181Ser

                                        20.

                                        rs1430538617 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:48980395 (GRCh38)
                                          3:49017828 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:48980394:T:C
                                          Gene:
                                          ARIH2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000003.12:g.48980395T>C, NC_000003.11:g.49017828T>C, NM_006321.4:c.1156T>C, NM_006321.3:c.1156T>C, NM_006321.2:c.1156T>C, XM_024453309.2:c.1156T>C, XM_024453309.1:c.1156T>C, NR_146084.2:n.1885T>C, NR_146084.1:n.1907T>C, NM_001349220.2:c.940T>C, NM_001349220.1:c.940T>C, NR_146082.2:n.1748T>C, NR_146082.1:n.1770T>C, NM_001349210.2:c.1156T>C, NM_001349210.1:c.1156T>C, NM_001349225.2:c.904T>C, NM_001349225.1:c.904T>C, NM_001349213.2:c.1225T>C, NM_001349213.1:c.1225T>C, NR_146083.2:n.1626T>C, NR_146083.1:n.1648T>C, NM_001349222.2:c.904T>C, NM_001349222.1:c.904T>C, NM_001317333.2:c.1156T>C, NM_001317333.1:c.1156T>C, NM_001349216.2:c.1009T>C, NM_001349216.1:c.1009T>C, NM_001349219.2:c.940T>C, NM_001349219.1:c.940T>C, NM_001349223.2:c.904T>C, NM_001349223.1:c.904T>C, NM_001349214.2:c.1225T>C, NM_001349214.1:c.1225T>C, NM_001349209.2:c.1156T>C, NM_001349209.1:c.1156T>C, NM_001349217.2:c.940T>C, NM_001349217.1:c.940T>C, NM_001349215.2:c.1156T>C, NM_001349215.1:c.1156T>C, XM_011533268.2:c.1225T>C, XM_011533268.1:c.1225T>C, XM_017005535.2:c.1009T>C, XM_017005535.1:c.1009T>C, NM_001349218.2:c.940T>C, NM_001349218.1:c.940T>C, NM_001349211.2:c.1156T>C, NM_001349211.1:c.1156T>C, NM_001349227.2:c.676T>C, NM_001349227.1:c.676T>C, NR_146085.2:n.1305T>C, NR_146085.1:n.1327T>C, XM_011533271.2:c.1009T>C, XM_011533271.1:c.1009T>C, XM_017005534.2:c.1009T>C, XM_017005534.1:c.1009T>C, NM_001349221.2:c.940T>C, NM_001349221.1:c.940T>C, NM_001349224.2:c.904T>C, NM_001349224.1:c.904T>C, NM_001349226.2:c.904T>C, NM_001349226.1:c.904T>C, XM_024453311.2:c.799T>C, XM_024453311.1:c.799T>C, NM_001349212.2:c.730T>C, NM_001349212.1:c.730T>C, NM_001317334.2:c.730T>C, NM_001317334.1:c.730T>C, XM_047447265.1:c.1225T>C, XM_047447267.1:c.1225T>C, XM_047447278.1:c.973T>C, XM_047447283.1:c.973T>C, XM_047447284.1:c.940T>C, NP_006312.1:p.Tyr386His, XP_024309077.1:p.Tyr386His, NP_001336149.1:p.Tyr314His, NP_001336139.1:p.Tyr386His, NP_001336154.1:p.Tyr302His, NP_001336142.1:p.Tyr409His, NP_001336151.1:p.Tyr302His, NP_001304262.1:p.Tyr386His, NP_001336145.1:p.Tyr337His, NP_001336148.1:p.Tyr314His, NP_001336152.1:p.Tyr302His, NP_001336143.1:p.Tyr409His, NP_001336138.1:p.Tyr386His, NP_001336146.1:p.Tyr314His, NP_001336144.1:p.Tyr386His, XP_011531570.1:p.Tyr409His, XP_016861024.1:p.Tyr337His, NP_001336147.1:p.Tyr314His, NP_001336140.1:p.Tyr386His, NP_001336156.1:p.Tyr226His, XP_011531573.1:p.Tyr337His, XP_016861023.1:p.Tyr337His, NP_001336150.1:p.Tyr314His, NP_001336153.1:p.Tyr302His, NP_001336155.1:p.Tyr302His, XP_024309079.1:p.Tyr267His, NP_001336141.1:p.Tyr244His, NP_001304263.1:p.Tyr244His, XP_047303221.1:p.Tyr409His, XP_047303223.1:p.Tyr409His, XP_047303234.1:p.Tyr325His, XP_047303239.1:p.Tyr325His, XP_047303240.1:p.Tyr314His

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