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Items: 1 to 20 of 320

1.

rs1490600320 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:177753202 (GRCh38)
    5:177180203 (GRCh37)
    Canonical SPDI:
    NC_000005.10:177753201:C:T
    Gene:
    FAM153A (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.177753202C>T, NC_000005.9:g.177180203C>T, XM_005265889.4:c.5G>A, XM_005265889.3:c.5G>A, XM_005265889.2:c.5G>A, XM_005265889.1:c.5G>A, XM_011534520.3:c.5G>A, XM_011534520.2:c.5G>A, XM_011534520.1:c.5G>A, XM_011534528.3:c.5G>A, XM_011534528.2:c.5G>A, XM_011534528.1:c.5G>A, XM_017009355.2:c.5G>A, XM_017009355.1:c.5G>A, XM_017009352.2:c.5G>A, XM_017009352.1:c.5G>A, XM_017009362.2:c.5G>A, XM_017009362.1:c.5G>A, XM_017009357.2:c.5G>A, XM_017009357.1:c.5G>A, XM_017009354.2:c.5G>A, XM_017009354.1:c.5G>A, XM_017009356.2:c.5G>A, XM_017009356.1:c.5G>A, XM_017009360.2:c.5G>A, XM_017009360.1:c.5G>A, XM_017009361.2:c.5G>A, XM_017009361.1:c.5G>A, XM_017009359.2:c.5G>A, XM_017009359.1:c.5G>A, XM_017009358.2:c.5G>A, XM_017009358.1:c.5G>A, XM_047417106.1:c.5G>A, XM_047417108.1:c.5G>A, NM_001394339.1:c.5G>A, XP_005265946.1:p.Gly2Glu, XP_011532822.1:p.Gly2Glu, XP_011532830.1:p.Gly2Glu, XP_016864844.1:p.Gly2Glu, XP_016864841.1:p.Gly2Glu, XP_016864851.1:p.Gly2Glu, XP_016864846.1:p.Gly2Glu, XP_016864843.1:p.Gly2Glu, XP_016864845.1:p.Gly2Glu, XP_016864849.1:p.Gly2Glu, XP_016864850.1:p.Gly2Glu, XP_016864848.1:p.Gly2Glu, XP_016864847.1:p.Gly2Glu, XP_047273062.1:p.Gly2Glu, XP_047273064.1:p.Gly2Glu, NP_001381268.1:p.Gly2Glu

    2.

    rs1489904734 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      5:177724143 (GRCh38)
      5:177151144 (GRCh37)
      Canonical SPDI:
      NC_000005.10:177724142:C:T
      Gene:
      FAM153A (Varview), LOC107986489 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,coding_sequence_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_000005.10:g.177724143C>T, NC_000005.9:g.177151144C>T, NM_173663.5:c.903G>A, NM_173663.4:c.903G>A, NM_173663.3:c.903G>A, XM_011534521.4:c.903G>A, XM_011534521.3:c.903G>A, XM_011534521.2:c.903G>A, XM_011534521.1:c.903G>A, XM_006714849.4:c.903G>A, XM_006714849.3:c.903G>A, XM_006714849.2:c.903G>A, XM_006714849.1:c.903G>A, XM_005265889.4:c.1134G>A, XM_005265889.3:c.1134G>A, XM_005265889.2:c.1134G>A, XM_005265889.1:c.1134G>A, XM_011534520.3:c.1128G>A, XM_011534520.2:c.1128G>A, XM_011534520.1:c.1128G>A, XM_011534528.3:c.738G>A, XM_011534528.2:c.738G>A, XM_011534528.1:c.738G>A, XM_017009355.2:c.1134G>A, XM_017009355.1:c.1134G>A, XM_017009352.2:c.1134G>A, XM_017009352.1:c.1134G>A, XM_017009363.2:c.975G>A, XM_017009363.1:c.975G>A, XM_017009365.2:c.969G>A, XM_017009365.1:c.969G>A, XM_017009369.2:c.903G>A, XM_017009369.1:c.903G>A, XM_017009364.2:c.975G>A, XM_017009364.1:c.975G>A, NR_146226.2:n.1157G>A, NR_146226.1:n.1157G>A, XM_017009362.2:c.990G>A, XM_017009362.1:c.990G>A, NR_146227.2:n.1193G>A, NR_146227.1:n.1193G>A, XM_017009357.2:c.1134G>A, XM_017009357.1:c.1134G>A, XM_017009354.2:c.1134G>A, XM_017009354.1:c.1134G>A, XM_017009356.2:c.1134G>A, XM_017009356.1:c.1134G>A, XM_017009360.2:c.1134G>A, XM_017009360.1:c.1134G>A, XM_017009361.2:c.1134G>A, XM_017009361.1:c.1134G>A, XM_017009359.2:c.1134G>A, XM_017009359.1:c.1134G>A, XM_017009358.2:c.1134G>A, XM_017009358.1:c.1134G>A, XM_047417106.1:c.1032G>A, XM_047417107.1:c.903G>A, XM_047417108.1:c.636G>A, NM_001394339.1:c.1134G>A

      3.

      rs1489635872 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:177748695 (GRCh38)
        5:177175696 (GRCh37)
        Canonical SPDI:
        NC_000005.10:177748694:G:A
        Gene:
        FAM153A (Varview)
        Functional Consequence:
        5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.00003/2 (GnomAD)
        HGVS:
        NC_000005.10:g.177748695G>A, NC_000005.9:g.177175696G>A, NM_173663.5:c.-52C>T, NM_173663.4:c.-52C>T, NM_173663.3:c.-52C>T, XM_011534521.4:c.-52C>T, XM_011534521.3:c.-52C>T, XM_011534521.2:c.-52C>T, XM_011534521.1:c.-52C>T, XM_006714849.4:c.-52C>T, XM_006714849.3:c.-52C>T, XM_006714849.2:c.-52C>T, XM_006714849.1:c.-52C>T, XM_005265889.4:c.180C>T, XM_005265889.3:c.180C>T, XM_005265889.2:c.180C>T, XM_005265889.1:c.180C>T, XM_011534520.3:c.180C>T, XM_011534520.2:c.180C>T, XM_011534520.1:c.180C>T, XM_011534528.3:c.180C>T, XM_011534528.2:c.180C>T, XM_011534528.1:c.180C>T, XM_017009355.2:c.180C>T, XM_017009355.1:c.180C>T, XM_017009352.2:c.180C>T, XM_017009352.1:c.180C>T, XM_017009363.2:c.21C>T, XM_017009363.1:c.21C>T, XM_017009365.2:c.21C>T, XM_017009365.1:c.21C>T, XM_017009369.2:c.-52C>T, XM_017009369.1:c.-52C>T, XM_017009364.2:c.21C>T, XM_017009364.1:c.21C>T, NR_146226.2:n.203C>T, NR_146226.1:n.203C>T, XM_017009362.2:c.36C>T, XM_017009362.1:c.36C>T, NR_146227.2:n.239C>T, NR_146227.1:n.239C>T, XM_017009357.2:c.180C>T, XM_017009357.1:c.180C>T, XM_017009354.2:c.180C>T, XM_017009354.1:c.180C>T, XM_017009356.2:c.180C>T, XM_017009356.1:c.180C>T, XM_017009360.2:c.180C>T, XM_017009360.1:c.180C>T, XM_017009361.2:c.180C>T, XM_017009361.1:c.180C>T, XM_017009359.2:c.180C>T, XM_017009359.1:c.180C>T, XM_017009358.2:c.180C>T, XM_017009358.1:c.180C>T, XM_047417106.1:c.180C>T, XM_047417107.1:c.-52C>T, XM_047417108.1:c.180C>T, NM_001394339.1:c.180C>T

        4.

        rs1489577039 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          5:177740786 (GRCh38)
          5:177167787 (GRCh37)
          Canonical SPDI:
          NC_000005.10:177740785:G:C
          Gene:
          FAM153A (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.177740786G>C, NC_000005.9:g.177167787G>C, NM_173663.5:c.226C>G, NM_173663.4:c.226C>G, NM_173663.3:c.226C>G, XM_011534521.4:c.226C>G, XM_011534521.3:c.226C>G, XM_011534521.2:c.226C>G, XM_011534521.1:c.226C>G, XM_006714849.4:c.226C>G, XM_006714849.3:c.226C>G, XM_006714849.2:c.226C>G, XM_006714849.1:c.226C>G, XM_005265889.4:c.457C>G, XM_005265889.3:c.457C>G, XM_005265889.2:c.457C>G, XM_005265889.1:c.457C>G, XM_011534520.3:c.457C>G, XM_011534520.2:c.457C>G, XM_011534520.1:c.457C>G, XM_017009355.2:c.457C>G, XM_017009355.1:c.457C>G, XM_017009352.2:c.457C>G, XM_017009352.1:c.457C>G, XM_017009363.2:c.298C>G, XM_017009363.1:c.298C>G, XM_017009365.2:c.298C>G, XM_017009365.1:c.298C>G, XM_017009369.2:c.226C>G, XM_017009369.1:c.226C>G, XM_017009364.2:c.298C>G, XM_017009364.1:c.298C>G, NR_146226.2:n.480C>G, NR_146226.1:n.480C>G, XM_017009362.2:c.313C>G, XM_017009362.1:c.313C>G, NR_146227.2:n.516C>G, NR_146227.1:n.516C>G, XM_017009357.2:c.457C>G, XM_017009357.1:c.457C>G, XM_017009354.2:c.457C>G, XM_017009354.1:c.457C>G, XM_017009356.2:c.457C>G, XM_017009356.1:c.457C>G, XM_017009360.2:c.457C>G, XM_017009360.1:c.457C>G, XM_017009361.2:c.457C>G, XM_017009361.1:c.457C>G, XM_017009359.2:c.457C>G, XM_017009359.1:c.457C>G, XM_017009358.2:c.457C>G, XM_017009358.1:c.457C>G, XM_047417106.1:c.457C>G, XM_047417107.1:c.226C>G, NM_001394339.1:c.457C>G, NP_775934.3:p.Pro76Ala, XP_011532823.1:p.Pro76Ala, XP_006714912.1:p.Pro76Ala, XP_005265946.1:p.Pro153Ala, XP_011532822.1:p.Pro153Ala, XP_016864844.1:p.Pro153Ala, XP_016864841.1:p.Pro153Ala, XP_016864852.1:p.Pro100Ala, XP_016864854.1:p.Pro100Ala, XP_016864858.1:p.Pro76Ala, XP_016864853.1:p.Pro100Ala, XP_016864851.1:p.Pro105Ala, XP_016864846.1:p.Pro153Ala, XP_016864843.1:p.Pro153Ala, XP_016864845.1:p.Pro153Ala, XP_016864849.1:p.Pro153Ala, XP_016864850.1:p.Pro153Ala, XP_016864848.1:p.Pro153Ala, XP_016864847.1:p.Pro153Ala, XP_047273062.1:p.Pro153Ala, XP_047273063.1:p.Pro76Ala, NP_001381268.1:p.Pro153Ala

          5.

          rs1487875348 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            5:177734908 (GRCh38)
            5:177161909 (GRCh37)
            Canonical SPDI:
            NC_000005.10:177734907:C:A
            Gene:
            FAM153A (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            NC_000005.10:g.177734908C>A, NC_000005.9:g.177161909C>A, NM_173663.5:c.459G>T, NM_173663.4:c.459G>T, NM_173663.3:c.459G>T, XM_011534521.4:c.459G>T, XM_011534521.3:c.459G>T, XM_011534521.2:c.459G>T, XM_011534521.1:c.459G>T, XM_006714849.4:c.459G>T, XM_006714849.3:c.459G>T, XM_006714849.2:c.459G>T, XM_006714849.1:c.459G>T, XM_005265889.4:c.690G>T, XM_005265889.3:c.690G>T, XM_005265889.2:c.690G>T, XM_005265889.1:c.690G>T, XM_011534520.3:c.690G>T, XM_011534520.2:c.690G>T, XM_011534520.1:c.690G>T, XM_017009355.2:c.690G>T, XM_017009355.1:c.690G>T, XM_017009352.2:c.690G>T, XM_017009352.1:c.690G>T, XM_017009363.2:c.531G>T, XM_017009363.1:c.531G>T, XM_017009365.2:c.531G>T, XM_017009365.1:c.531G>T, XM_017009369.2:c.459G>T, XM_017009369.1:c.459G>T, XM_017009364.2:c.531G>T, XM_017009364.1:c.531G>T, NR_146226.2:n.713G>T, NR_146226.1:n.713G>T, XM_017009362.2:c.546G>T, XM_017009362.1:c.546G>T, NR_146227.2:n.749G>T, NR_146227.1:n.749G>T, XM_017009357.2:c.690G>T, XM_017009357.1:c.690G>T, XM_017009354.2:c.690G>T, XM_017009354.1:c.690G>T, XM_017009356.2:c.690G>T, XM_017009356.1:c.690G>T, XM_017009360.2:c.690G>T, XM_017009360.1:c.690G>T, XM_017009361.2:c.690G>T, XM_017009361.1:c.690G>T, XM_017009359.2:c.690G>T, XM_017009359.1:c.690G>T, XM_017009358.2:c.690G>T, XM_017009358.1:c.690G>T, XM_047417106.1:c.690G>T, XM_047417107.1:c.459G>T, NM_001394339.1:c.690G>T, NP_775934.3:p.Glu153Asp, XP_011532823.1:p.Glu153Asp, XP_006714912.1:p.Glu153Asp, XP_005265946.1:p.Glu230Asp, XP_011532822.1:p.Glu230Asp, XP_016864844.1:p.Glu230Asp, XP_016864841.1:p.Glu230Asp, XP_016864852.1:p.Glu177Asp, XP_016864854.1:p.Glu177Asp, XP_016864858.1:p.Glu153Asp, XP_016864853.1:p.Glu177Asp, XP_016864851.1:p.Glu182Asp, XP_016864846.1:p.Glu230Asp, XP_016864843.1:p.Glu230Asp, XP_016864845.1:p.Glu230Asp, XP_016864849.1:p.Glu230Asp, XP_016864850.1:p.Glu230Asp, XP_016864848.1:p.Glu230Asp, XP_016864847.1:p.Glu230Asp, XP_047273062.1:p.Glu230Asp, XP_047273063.1:p.Glu153Asp, NP_001381268.1:p.Glu230Asp

            6.

            rs1487861845 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:177744960 (GRCh38)
              5:177171961 (GRCh37)
              Canonical SPDI:
              NC_000005.10:177744959:C:T
              Gene:
              FAM153A (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              HGVS:
              NC_000005.10:g.177744960C>T, NC_000005.9:g.177171961C>T, NM_173663.5:c.36G>A, NM_173663.4:c.36G>A, NM_173663.3:c.36G>A, XM_011534521.4:c.36G>A, XM_011534521.3:c.36G>A, XM_011534521.2:c.36G>A, XM_011534521.1:c.36G>A, XM_006714849.4:c.36G>A, XM_006714849.3:c.36G>A, XM_006714849.2:c.36G>A, XM_006714849.1:c.36G>A, XM_005265889.4:c.267G>A, XM_005265889.3:c.267G>A, XM_005265889.2:c.267G>A, XM_005265889.1:c.267G>A, XM_011534520.3:c.267G>A, XM_011534520.2:c.267G>A, XM_011534520.1:c.267G>A, XM_011534528.3:c.267G>A, XM_011534528.2:c.267G>A, XM_011534528.1:c.267G>A, XM_017009355.2:c.267G>A, XM_017009355.1:c.267G>A, XM_017009352.2:c.267G>A, XM_017009352.1:c.267G>A, XM_017009363.2:c.108G>A, XM_017009363.1:c.108G>A, XM_017009365.2:c.108G>A, XM_017009365.1:c.108G>A, XM_017009369.2:c.36G>A, XM_017009369.1:c.36G>A, XM_017009364.2:c.108G>A, XM_017009364.1:c.108G>A, NR_146226.2:n.290G>A, NR_146226.1:n.290G>A, XM_017009362.2:c.123G>A, XM_017009362.1:c.123G>A, NR_146227.2:n.326G>A, NR_146227.1:n.326G>A, XM_017009357.2:c.267G>A, XM_017009357.1:c.267G>A, XM_017009354.2:c.267G>A, XM_017009354.1:c.267G>A, XM_017009356.2:c.267G>A, XM_017009356.1:c.267G>A, XM_017009360.2:c.267G>A, XM_017009360.1:c.267G>A, XM_017009361.2:c.267G>A, XM_017009361.1:c.267G>A, XM_017009359.2:c.267G>A, XM_017009359.1:c.267G>A, XM_017009358.2:c.267G>A, XM_017009358.1:c.267G>A, XM_047417106.1:c.267G>A, XM_047417107.1:c.36G>A, XM_047417108.1:c.267G>A, NM_001394339.1:c.267G>A, NP_775934.3:p.Met12Ile, XP_011532823.1:p.Met12Ile, XP_006714912.1:p.Met12Ile, XP_005265946.1:p.Met89Ile, XP_011532822.1:p.Met89Ile, XP_011532830.1:p.Met89Ile, XP_016864844.1:p.Met89Ile, XP_016864841.1:p.Met89Ile, XP_016864852.1:p.Met36Ile, XP_016864854.1:p.Met36Ile, XP_016864858.1:p.Met12Ile, XP_016864853.1:p.Met36Ile, XP_016864851.1:p.Met41Ile, XP_016864846.1:p.Met89Ile, XP_016864843.1:p.Met89Ile, XP_016864845.1:p.Met89Ile, XP_016864849.1:p.Met89Ile, XP_016864850.1:p.Met89Ile, XP_016864848.1:p.Met89Ile, XP_016864847.1:p.Met89Ile, XP_047273062.1:p.Met89Ile, XP_047273063.1:p.Met12Ile, XP_047273064.1:p.Met89Ile, NP_001381268.1:p.Met89Ile

              7.

              rs1485598537 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                5:177729495 (GRCh38)
                5:177156496 (GRCh37)
                Canonical SPDI:
                NC_000005.10:177729494:C:G,NC_000005.10:177729494:C:T
                Gene:
                FAM153A (Varview), LOC107986489 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000005.10:g.177729495C>G, NC_000005.10:g.177729495C>T, NC_000005.9:g.177156496C>G, NC_000005.9:g.177156496C>T, NM_173663.5:c.692G>C, NM_173663.5:c.692G>A, NM_173663.4:c.692G>C, NM_173663.4:c.692G>A, NM_173663.3:c.692G>C, NM_173663.3:c.692G>A, XM_011534521.4:c.692G>C, XM_011534521.4:c.692G>A, XM_011534521.3:c.692G>C, XM_011534521.3:c.692G>A, XM_011534521.2:c.692G>C, XM_011534521.2:c.692G>A, XM_011534521.1:c.692G>C, XM_011534521.1:c.692G>A, XM_006714849.4:c.692G>C, XM_006714849.4:c.692G>A, XM_006714849.3:c.692G>C, XM_006714849.3:c.692G>A, XM_006714849.2:c.692G>C, XM_006714849.2:c.692G>A, XM_006714849.1:c.692G>C, XM_006714849.1:c.692G>A, XM_005265889.4:c.923G>C, XM_005265889.4:c.923G>A, XM_005265889.3:c.923G>C, XM_005265889.3:c.923G>A, XM_005265889.2:c.923G>C, XM_005265889.2:c.923G>A, XM_005265889.1:c.923G>C, XM_005265889.1:c.923G>A, XM_011534520.3:c.917G>C, XM_011534520.3:c.917G>A, XM_011534520.2:c.917G>C, XM_011534520.2:c.917G>A, XM_011534520.1:c.917G>C, XM_011534520.1:c.917G>A, XM_011534528.3:c.527G>C, XM_011534528.3:c.527G>A, XM_011534528.2:c.527G>C, XM_011534528.2:c.527G>A, XM_011534528.1:c.527G>C, XM_011534528.1:c.527G>A, XM_017009355.2:c.923G>C, XM_017009355.2:c.923G>A, XM_017009355.1:c.923G>C, XM_017009355.1:c.923G>A, XM_017009352.2:c.923G>C, XM_017009352.2:c.923G>A, XM_017009352.1:c.923G>C, XM_017009352.1:c.923G>A, XM_017009363.2:c.764G>C, XM_017009363.2:c.764G>A, XM_017009363.1:c.764G>C, XM_017009363.1:c.764G>A, XM_017009365.2:c.758G>C, XM_017009365.2:c.758G>A, XM_017009365.1:c.758G>C, XM_017009365.1:c.758G>A, XM_017009369.2:c.692G>C, XM_017009369.2:c.692G>A, XM_017009369.1:c.692G>C, XM_017009369.1:c.692G>A, XM_017009364.2:c.764G>C, XM_017009364.2:c.764G>A, XM_017009364.1:c.764G>C, XM_017009364.1:c.764G>A, NR_146226.2:n.946G>C, NR_146226.2:n.946G>A, NR_146226.1:n.946G>C, NR_146226.1:n.946G>A, XM_017009362.2:c.779G>C, XM_017009362.2:c.779G>A, XM_017009362.1:c.779G>C, XM_017009362.1:c.779G>A, NR_146227.2:n.982G>C, NR_146227.2:n.982G>A, NR_146227.1:n.982G>C, NR_146227.1:n.982G>A, XM_017009357.2:c.923G>C, XM_017009357.2:c.923G>A, XM_017009357.1:c.923G>C, XM_017009357.1:c.923G>A, XM_017009354.2:c.923G>C, XM_017009354.2:c.923G>A, XM_017009354.1:c.923G>C, XM_017009354.1:c.923G>A, XM_017009356.2:c.923G>C, XM_017009356.2:c.923G>A, XM_017009356.1:c.923G>C, XM_017009356.1:c.923G>A, XM_017009360.2:c.923G>C, XM_017009360.2:c.923G>A, XM_017009360.1:c.923G>C, XM_017009360.1:c.923G>A, XM_017009361.2:c.923G>C, XM_017009361.2:c.923G>A, XM_017009361.1:c.923G>C, XM_017009361.1:c.923G>A, XM_017009359.2:c.923G>C, XM_017009359.2:c.923G>A, XM_017009359.1:c.923G>C, XM_017009359.1:c.923G>A, XM_017009358.2:c.923G>C, XM_017009358.2:c.923G>A, XM_017009358.1:c.923G>C, XM_017009358.1:c.923G>A, XR_001743022.2:n.1787C>G, XR_001743022.2:n.1787C>T, XR_001743022.1:n.1786C>G, XR_001743022.1:n.1786C>T, XR_001743021.2:n.663C>G, XR_001743021.2:n.663C>T, XR_001743021.1:n.661C>G, XR_001743021.1:n.661C>T, XR_001743020.2:n.658C>G, XR_001743020.2:n.658C>T, XR_001743020.1:n.658C>G, XR_001743020.1:n.658C>T, XR_001743018.2:n.588C>G, XR_001743018.2:n.588C>T, XR_001743018.1:n.571C>G, XR_001743018.1:n.571C>T, XR_001743023.2:n.564C>G, XR_001743023.2:n.564C>T, XR_001743023.1:n.564C>G, XR_001743023.1:n.564C>T, XR_001743024.2:n.545C>G, XR_001743024.2:n.545C>T, XR_001743024.1:n.528C>G, XR_001743024.1:n.528C>T, XR_001743019.2:n.534C>G, XR_001743019.2:n.534C>T, XR_001743019.1:n.534C>G, XR_001743019.1:n.534C>T, XM_047417107.1:c.692G>C, XM_047417107.1:c.692G>A, NM_001394339.1:c.923G>C, NM_001394339.1:c.923G>A, NP_775934.3:p.Gly231Ala, NP_775934.3:p.Gly231Glu, XP_011532823.1:p.Gly231Ala, XP_011532823.1:p.Gly231Glu, XP_006714912.1:p.Gly231Ala, XP_006714912.1:p.Gly231Glu, XP_005265946.1:p.Gly308Ala, XP_005265946.1:p.Gly308Glu, XP_011532822.1:p.Gly306Ala, XP_011532822.1:p.Gly306Glu, XP_011532830.1:p.Gly176Ala, XP_011532830.1:p.Gly176Glu, XP_016864844.1:p.Gly308Ala, XP_016864844.1:p.Gly308Glu, XP_016864841.1:p.Gly308Ala, XP_016864841.1:p.Gly308Glu, XP_016864852.1:p.Gly255Ala, XP_016864852.1:p.Gly255Glu, XP_016864854.1:p.Gly253Ala, XP_016864854.1:p.Gly253Glu, XP_016864858.1:p.Gly231Ala, XP_016864858.1:p.Gly231Glu, XP_016864853.1:p.Gly255Ala, XP_016864853.1:p.Gly255Glu, XP_016864851.1:p.Gly260Ala, XP_016864851.1:p.Gly260Glu, XP_016864846.1:p.Gly308Ala, XP_016864846.1:p.Gly308Glu, XP_016864843.1:p.Gly308Ala, XP_016864843.1:p.Gly308Glu, XP_016864845.1:p.Gly308Ala, XP_016864845.1:p.Gly308Glu, XP_016864849.1:p.Gly308Ala, XP_016864849.1:p.Gly308Glu, XP_016864850.1:p.Gly308Ala, XP_016864850.1:p.Gly308Glu, XP_016864848.1:p.Gly308Ala, XP_016864848.1:p.Gly308Glu, XP_016864847.1:p.Gly308Ala, XP_016864847.1:p.Gly308Glu, XP_047273063.1:p.Gly231Ala, XP_047273063.1:p.Gly231Glu, NP_001381268.1:p.Gly308Ala, NP_001381268.1:p.Gly308Glu

                8.

                rs1483632468 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:177748685 (GRCh38)
                  5:177175686 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:177748684:G:A
                  Gene:
                  FAM153A (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  NC_000005.10:g.177748685G>A, NC_000005.9:g.177175686G>A, NM_173663.5:c.-42C>T, NM_173663.4:c.-42C>T, NM_173663.3:c.-42C>T, XM_011534521.4:c.-42C>T, XM_011534521.3:c.-42C>T, XM_011534521.2:c.-42C>T, XM_011534521.1:c.-42C>T, XM_006714849.4:c.-42C>T, XM_006714849.3:c.-42C>T, XM_006714849.2:c.-42C>T, XM_006714849.1:c.-42C>T, XM_005265889.4:c.190C>T, XM_005265889.3:c.190C>T, XM_005265889.2:c.190C>T, XM_005265889.1:c.190C>T, XM_011534520.3:c.190C>T, XM_011534520.2:c.190C>T, XM_011534520.1:c.190C>T, XM_011534528.3:c.190C>T, XM_011534528.2:c.190C>T, XM_011534528.1:c.190C>T, XM_017009355.2:c.190C>T, XM_017009355.1:c.190C>T, XM_017009352.2:c.190C>T, XM_017009352.1:c.190C>T, XM_017009363.2:c.31C>T, XM_017009363.1:c.31C>T, XM_017009365.2:c.31C>T, XM_017009365.1:c.31C>T, XM_017009369.2:c.-42C>T, XM_017009369.1:c.-42C>T, XM_017009364.2:c.31C>T, XM_017009364.1:c.31C>T, NR_146226.2:n.213C>T, NR_146226.1:n.213C>T, XM_017009362.2:c.46C>T, XM_017009362.1:c.46C>T, NR_146227.2:n.249C>T, NR_146227.1:n.249C>T, XM_017009357.2:c.190C>T, XM_017009357.1:c.190C>T, XM_017009354.2:c.190C>T, XM_017009354.1:c.190C>T, XM_017009356.2:c.190C>T, XM_017009356.1:c.190C>T, XM_017009360.2:c.190C>T, XM_017009360.1:c.190C>T, XM_017009361.2:c.190C>T, XM_017009361.1:c.190C>T, XM_017009359.2:c.190C>T, XM_017009359.1:c.190C>T, XM_017009358.2:c.190C>T, XM_017009358.1:c.190C>T, XM_047417106.1:c.190C>T, XM_047417107.1:c.-42C>T, XM_047417108.1:c.190C>T, NM_001394339.1:c.190C>T

                  9.

                  rs1483217366 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    5:177724335 (GRCh38)
                    5:177151336 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:177724334:C:G,NC_000005.10:177724334:C:T
                    Gene:
                    FAM153A (Varview), LOC107986489 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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_000005.10:g.177724335C>G, NC_000005.10:g.177724335C>T, NC_000005.9:g.177151336C>G, NC_000005.9:g.177151336C>T, NM_173663.5:c.799G>C, NM_173663.5:c.799G>A, NM_173663.4:c.799G>C, NM_173663.4:c.799G>A, NM_173663.3:c.799G>C, NM_173663.3:c.799G>A, XM_011534521.4:c.799G>C, XM_011534521.4:c.799G>A, XM_011534521.3:c.799G>C, XM_011534521.3:c.799G>A, XM_011534521.2:c.799G>C, XM_011534521.2:c.799G>A, XM_011534521.1:c.799G>C, XM_011534521.1:c.799G>A, XM_006714849.4:c.799G>C, XM_006714849.4:c.799G>A, XM_006714849.3:c.799G>C, XM_006714849.3:c.799G>A, XM_006714849.2:c.799G>C, XM_006714849.2:c.799G>A, XM_006714849.1:c.799G>C, XM_006714849.1:c.799G>A, XM_005265889.4:c.1030G>C, XM_005265889.4:c.1030G>A, XM_005265889.3:c.1030G>C, XM_005265889.3:c.1030G>A, XM_005265889.2:c.1030G>C, XM_005265889.2:c.1030G>A, XM_005265889.1:c.1030G>C, XM_005265889.1:c.1030G>A, XM_011534520.3:c.1024G>C, XM_011534520.3:c.1024G>A, XM_011534520.2:c.1024G>C, XM_011534520.2:c.1024G>A, XM_011534520.1:c.1024G>C, XM_011534520.1:c.1024G>A, XM_011534528.3:c.634G>C, XM_011534528.3:c.634G>A, XM_011534528.2:c.634G>C, XM_011534528.2:c.634G>A, XM_011534528.1:c.634G>C, XM_011534528.1:c.634G>A, XM_017009355.2:c.1030G>C, XM_017009355.2:c.1030G>A, XM_017009355.1:c.1030G>C, XM_017009355.1:c.1030G>A, XM_017009352.2:c.1030G>C, XM_017009352.2:c.1030G>A, XM_017009352.1:c.1030G>C, XM_017009352.1:c.1030G>A, XM_017009363.2:c.871G>C, XM_017009363.2:c.871G>A, XM_017009363.1:c.871G>C, XM_017009363.1:c.871G>A, XM_017009365.2:c.865G>C, XM_017009365.2:c.865G>A, XM_017009365.1:c.865G>C, XM_017009365.1:c.865G>A, XM_017009369.2:c.799G>C, XM_017009369.2:c.799G>A, XM_017009369.1:c.799G>C, XM_017009369.1:c.799G>A, XM_017009364.2:c.871G>C, XM_017009364.2:c.871G>A, XM_017009364.1:c.871G>C, XM_017009364.1:c.871G>A, NR_146226.2:n.1053G>C, NR_146226.2:n.1053G>A, NR_146226.1:n.1053G>C, NR_146226.1:n.1053G>A, XM_017009362.2:c.886G>C, XM_017009362.2:c.886G>A, XM_017009362.1:c.886G>C, XM_017009362.1:c.886G>A, NR_146227.2:n.1089G>C, NR_146227.2:n.1089G>A, NR_146227.1:n.1089G>C, NR_146227.1:n.1089G>A, XM_017009357.2:c.1030G>C, XM_017009357.2:c.1030G>A, XM_017009357.1:c.1030G>C, XM_017009357.1:c.1030G>A, XM_017009354.2:c.1030G>C, XM_017009354.2:c.1030G>A, XM_017009354.1:c.1030G>C, XM_017009354.1:c.1030G>A, XM_017009356.2:c.1030G>C, XM_017009356.2:c.1030G>A, XM_017009356.1:c.1030G>C, XM_017009356.1:c.1030G>A, XM_017009360.2:c.1030G>C, XM_017009360.2:c.1030G>A, XM_017009360.1:c.1030G>C, XM_017009360.1:c.1030G>A, XM_017009361.2:c.1030G>C, XM_017009361.2:c.1030G>A, XM_017009361.1:c.1030G>C, XM_017009361.1:c.1030G>A, XM_017009359.2:c.1030G>C, XM_017009359.2:c.1030G>A, XM_017009359.1:c.1030G>C, XM_017009359.1:c.1030G>A, XM_017009358.2:c.1030G>C, XM_017009358.2:c.1030G>A, XM_017009358.1:c.1030G>C, XM_017009358.1:c.1030G>A, XM_047417106.1:c.928G>C, XM_047417106.1:c.928G>A, XM_047417107.1:c.799G>C, XM_047417107.1:c.799G>A, XM_047417108.1:c.532G>C, XM_047417108.1:c.532G>A, NM_001394339.1:c.1030G>C, NM_001394339.1:c.1030G>A, NP_775934.3:p.Ala267Pro, NP_775934.3:p.Ala267Thr, XP_011532823.1:p.Ala267Pro, XP_011532823.1:p.Ala267Thr, XP_006714912.1:p.Ala267Pro, XP_006714912.1:p.Ala267Thr, XP_005265946.1:p.Ala344Pro, XP_005265946.1:p.Ala344Thr, XP_011532822.1:p.Ala342Pro, XP_011532822.1:p.Ala342Thr, XP_011532830.1:p.Ala212Pro, XP_011532830.1:p.Ala212Thr, XP_016864844.1:p.Ala344Pro, XP_016864844.1:p.Ala344Thr, XP_016864841.1:p.Ala344Pro, XP_016864841.1:p.Ala344Thr, XP_016864852.1:p.Ala291Pro, XP_016864852.1:p.Ala291Thr, XP_016864854.1:p.Ala289Pro, XP_016864854.1:p.Ala289Thr, XP_016864858.1:p.Ala267Pro, XP_016864858.1:p.Ala267Thr, XP_016864853.1:p.Ala291Pro, XP_016864853.1:p.Ala291Thr, XP_016864851.1:p.Ala296Pro, XP_016864851.1:p.Ala296Thr, XP_016864846.1:p.Ala344Pro, XP_016864846.1:p.Ala344Thr, XP_016864843.1:p.Ala344Pro, XP_016864843.1:p.Ala344Thr, XP_016864845.1:p.Ala344Pro, XP_016864845.1:p.Ala344Thr, XP_016864849.1:p.Ala344Pro, XP_016864849.1:p.Ala344Thr, XP_016864850.1:p.Ala344Pro, XP_016864850.1:p.Ala344Thr, XP_016864848.1:p.Ala344Pro, XP_016864848.1:p.Ala344Thr, XP_016864847.1:p.Ala344Pro, XP_016864847.1:p.Ala344Thr, XP_047273062.1:p.Ala310Pro, XP_047273062.1:p.Ala310Thr, XP_047273063.1:p.Ala267Pro, XP_047273063.1:p.Ala267Thr, XP_047273064.1:p.Ala178Pro, XP_047273064.1:p.Ala178Thr, NP_001381268.1:p.Ala344Pro, NP_001381268.1:p.Ala344Thr

                    10.

                    rs1482781511 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      5:177744889 (GRCh38)
                      5:177171890 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:177744888:T:C
                      Gene:
                      FAM153A (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.00001/1 (GnomAD)
                      HGVS:
                      NC_000005.10:g.177744889T>C, NC_000005.9:g.177171890T>C, NM_173663.5:c.107A>G, NM_173663.4:c.107A>G, NM_173663.3:c.107A>G, XM_011534521.4:c.107A>G, XM_011534521.3:c.107A>G, XM_011534521.2:c.107A>G, XM_011534521.1:c.107A>G, XM_006714849.4:c.107A>G, XM_006714849.3:c.107A>G, XM_006714849.2:c.107A>G, XM_006714849.1:c.107A>G, XM_005265889.4:c.338A>G, XM_005265889.3:c.338A>G, XM_005265889.2:c.338A>G, XM_005265889.1:c.338A>G, XM_011534520.3:c.338A>G, XM_011534520.2:c.338A>G, XM_011534520.1:c.338A>G, XM_011534528.3:c.338A>G, XM_011534528.2:c.338A>G, XM_011534528.1:c.338A>G, XM_017009355.2:c.338A>G, XM_017009355.1:c.338A>G, XM_017009352.2:c.338A>G, XM_017009352.1:c.338A>G, XM_017009363.2:c.179A>G, XM_017009363.1:c.179A>G, XM_017009365.2:c.179A>G, XM_017009365.1:c.179A>G, XM_017009369.2:c.107A>G, XM_017009369.1:c.107A>G, XM_017009364.2:c.179A>G, XM_017009364.1:c.179A>G, NR_146226.2:n.361A>G, NR_146226.1:n.361A>G, XM_017009362.2:c.194A>G, XM_017009362.1:c.194A>G, NR_146227.2:n.397A>G, NR_146227.1:n.397A>G, XM_017009357.2:c.338A>G, XM_017009357.1:c.338A>G, XM_017009354.2:c.338A>G, XM_017009354.1:c.338A>G, XM_017009356.2:c.338A>G, XM_017009356.1:c.338A>G, XM_017009360.2:c.338A>G, XM_017009360.1:c.338A>G, XM_017009361.2:c.338A>G, XM_017009361.1:c.338A>G, XM_017009359.2:c.338A>G, XM_017009359.1:c.338A>G, XM_017009358.2:c.338A>G, XM_017009358.1:c.338A>G, XM_047417106.1:c.338A>G, XM_047417107.1:c.107A>G, XM_047417108.1:c.338A>G, NM_001394339.1:c.338A>G, NP_775934.3:p.Lys36Arg, XP_011532823.1:p.Lys36Arg, XP_006714912.1:p.Lys36Arg, XP_005265946.1:p.Lys113Arg, XP_011532822.1:p.Lys113Arg, XP_011532830.1:p.Lys113Arg, XP_016864844.1:p.Lys113Arg, XP_016864841.1:p.Lys113Arg, XP_016864852.1:p.Lys60Arg, XP_016864854.1:p.Lys60Arg, XP_016864858.1:p.Lys36Arg, XP_016864853.1:p.Lys60Arg, XP_016864851.1:p.Lys65Arg, XP_016864846.1:p.Lys113Arg, XP_016864843.1:p.Lys113Arg, XP_016864845.1:p.Lys113Arg, XP_016864849.1:p.Lys113Arg, XP_016864850.1:p.Lys113Arg, XP_016864848.1:p.Lys113Arg, XP_016864847.1:p.Lys113Arg, XP_047273062.1:p.Lys113Arg, XP_047273063.1:p.Lys36Arg, XP_047273064.1:p.Lys113Arg, NP_001381268.1:p.Lys113Arg

                      11.

                      rs1482721384 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:177750981 (GRCh38)
                        5:177177982 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:177750980:C:T
                        Gene:
                        FAM153A (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000111/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000005.10:g.177750981C>T, NC_000005.9:g.177177982C>T, XM_005265889.4:c.103G>A, XM_005265889.3:c.103G>A, XM_005265889.2:c.103G>A, XM_005265889.1:c.103G>A, XM_011534520.3:c.103G>A, XM_011534520.2:c.103G>A, XM_011534520.1:c.103G>A, XM_011534528.3:c.103G>A, XM_011534528.2:c.103G>A, XM_011534528.1:c.103G>A, XM_017009355.2:c.103G>A, XM_017009355.1:c.103G>A, XM_017009352.2:c.103G>A, XM_017009352.1:c.103G>A, XM_017009357.2:c.103G>A, XM_017009357.1:c.103G>A, XM_017009354.2:c.103G>A, XM_017009354.1:c.103G>A, XM_017009356.2:c.103G>A, XM_017009356.1:c.103G>A, XM_017009360.2:c.103G>A, XM_017009360.1:c.103G>A, XM_017009361.2:c.103G>A, XM_017009361.1:c.103G>A, XM_017009359.2:c.103G>A, XM_017009359.1:c.103G>A, XM_017009358.2:c.103G>A, XM_017009358.1:c.103G>A, XM_047417106.1:c.103G>A, XM_047417107.1:c.-79G>A, XM_047417108.1:c.103G>A, NM_001394339.1:c.103G>A, XP_005265946.1:p.Glu35Lys, XP_011532822.1:p.Glu35Lys, XP_011532830.1:p.Glu35Lys, XP_016864844.1:p.Glu35Lys, XP_016864841.1:p.Glu35Lys, XP_016864846.1:p.Glu35Lys, XP_016864843.1:p.Glu35Lys, XP_016864845.1:p.Glu35Lys, XP_016864849.1:p.Glu35Lys, XP_016864850.1:p.Glu35Lys, XP_016864848.1:p.Glu35Lys, XP_016864847.1:p.Glu35Lys, XP_047273062.1:p.Glu35Lys, XP_047273064.1:p.Glu35Lys, NP_001381268.1:p.Glu35Lys

                        12.

                        rs1481456550 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:177737105 (GRCh38)
                          5:177164106 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:177737104:C:T
                          Gene:
                          FAM153A (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.177737105C>T, NC_000005.9:g.177164106C>T, NM_173663.5:c.339G>A, NM_173663.4:c.339G>A, NM_173663.3:c.339G>A, XM_011534521.4:c.339G>A, XM_011534521.3:c.339G>A, XM_011534521.2:c.339G>A, XM_011534521.1:c.339G>A, XM_006714849.4:c.339G>A, XM_006714849.3:c.339G>A, XM_006714849.2:c.339G>A, XM_006714849.1:c.339G>A, XM_005265889.4:c.570G>A, XM_005265889.3:c.570G>A, XM_005265889.2:c.570G>A, XM_005265889.1:c.570G>A, XM_011534520.3:c.570G>A, XM_011534520.2:c.570G>A, XM_011534520.1:c.570G>A, XM_017009355.2:c.570G>A, XM_017009355.1:c.570G>A, XM_017009352.2:c.570G>A, XM_017009352.1:c.570G>A, XM_017009363.2:c.411G>A, XM_017009363.1:c.411G>A, XM_017009365.2:c.411G>A, XM_017009365.1:c.411G>A, XM_017009369.2:c.339G>A, XM_017009369.1:c.339G>A, XM_017009364.2:c.411G>A, XM_017009364.1:c.411G>A, NR_146226.2:n.593G>A, NR_146226.1:n.593G>A, XM_017009362.2:c.426G>A, XM_017009362.1:c.426G>A, NR_146227.2:n.629G>A, NR_146227.1:n.629G>A, XM_017009357.2:c.570G>A, XM_017009357.1:c.570G>A, XM_017009354.2:c.570G>A, XM_017009354.1:c.570G>A, XM_017009356.2:c.570G>A, XM_017009356.1:c.570G>A, XM_017009360.2:c.570G>A, XM_017009360.1:c.570G>A, XM_017009361.2:c.570G>A, XM_017009361.1:c.570G>A, XM_017009359.2:c.570G>A, XM_017009359.1:c.570G>A, XM_017009358.2:c.570G>A, XM_017009358.1:c.570G>A, XM_047417106.1:c.570G>A, XM_047417107.1:c.339G>A, NM_001394339.1:c.570G>A

                          13.

                          rs1471247867 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            5:177724302 (GRCh38)
                            5:177151303 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:177724301:C:T
                            Gene:
                            FAM153A (Varview), LOC107986489 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000016/2 (GnomAD)
                            HGVS:
                            NC_000005.10:g.177724302C>T, NC_000005.9:g.177151303C>T, NM_173663.5:c.832G>A, NM_173663.4:c.832G>A, NM_173663.3:c.832G>A, XM_011534521.4:c.832G>A, XM_011534521.3:c.832G>A, XM_011534521.2:c.832G>A, XM_011534521.1:c.832G>A, XM_006714849.4:c.832G>A, XM_006714849.3:c.832G>A, XM_006714849.2:c.832G>A, XM_006714849.1:c.832G>A, XM_005265889.4:c.1063G>A, XM_005265889.3:c.1063G>A, XM_005265889.2:c.1063G>A, XM_005265889.1:c.1063G>A, XM_011534520.3:c.1057G>A, XM_011534520.2:c.1057G>A, XM_011534520.1:c.1057G>A, XM_011534528.3:c.667G>A, XM_011534528.2:c.667G>A, XM_011534528.1:c.667G>A, XM_017009355.2:c.1063G>A, XM_017009355.1:c.1063G>A, XM_017009352.2:c.1063G>A, XM_017009352.1:c.1063G>A, XM_017009363.2:c.904G>A, XM_017009363.1:c.904G>A, XM_017009365.2:c.898G>A, XM_017009365.1:c.898G>A, XM_017009369.2:c.832G>A, XM_017009369.1:c.832G>A, XM_017009364.2:c.904G>A, XM_017009364.1:c.904G>A, NR_146226.2:n.1086G>A, NR_146226.1:n.1086G>A, XM_017009362.2:c.919G>A, XM_017009362.1:c.919G>A, NR_146227.2:n.1122G>A, NR_146227.1:n.1122G>A, XM_017009357.2:c.1063G>A, XM_017009357.1:c.1063G>A, XM_017009354.2:c.1063G>A, XM_017009354.1:c.1063G>A, XM_017009356.2:c.1063G>A, XM_017009356.1:c.1063G>A, XM_017009360.2:c.1063G>A, XM_017009360.1:c.1063G>A, XM_017009361.2:c.1063G>A, XM_017009361.1:c.1063G>A, XM_017009359.2:c.1063G>A, XM_017009359.1:c.1063G>A, XM_017009358.2:c.1063G>A, XM_017009358.1:c.1063G>A, XM_047417106.1:c.961G>A, XM_047417107.1:c.832G>A, XM_047417108.1:c.565G>A, NM_001394339.1:c.1063G>A, NP_775934.3:p.Glu278Lys, XP_011532823.1:p.Glu278Lys, XP_006714912.1:p.Glu278Lys, XP_005265946.1:p.Glu355Lys, XP_011532822.1:p.Glu353Lys, XP_011532830.1:p.Glu223Lys, XP_016864844.1:p.Glu355Lys, XP_016864841.1:p.Glu355Lys, XP_016864852.1:p.Glu302Lys, XP_016864854.1:p.Glu300Lys, XP_016864858.1:p.Glu278Lys, XP_016864853.1:p.Glu302Lys, XP_016864851.1:p.Glu307Lys, XP_016864846.1:p.Glu355Lys, XP_016864843.1:p.Glu355Lys, XP_016864845.1:p.Glu355Lys, XP_016864849.1:p.Glu355Lys, XP_016864850.1:p.Glu355Lys, XP_016864848.1:p.Glu355Lys, XP_016864847.1:p.Glu355Lys, XP_047273062.1:p.Glu321Lys, XP_047273063.1:p.Glu278Lys, XP_047273064.1:p.Glu189Lys, NP_001381268.1:p.Glu355Lys

                            14.

                            rs1467646292 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:177750927 (GRCh38)
                              5:177177928 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:177750926:T:C
                              Gene:
                              FAM153A (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.177750927T>C, NC_000005.9:g.177177928T>C, XM_005265889.4:c.157A>G, XM_005265889.3:c.157A>G, XM_005265889.2:c.157A>G, XM_005265889.1:c.157A>G, XM_011534520.3:c.157A>G, XM_011534520.2:c.157A>G, XM_011534520.1:c.157A>G, XM_011534528.3:c.157A>G, XM_011534528.2:c.157A>G, XM_011534528.1:c.157A>G, XM_017009355.2:c.157A>G, XM_017009355.1:c.157A>G, XM_017009352.2:c.157A>G, XM_017009352.1:c.157A>G, XM_017009357.2:c.157A>G, XM_017009357.1:c.157A>G, XM_017009354.2:c.157A>G, XM_017009354.1:c.157A>G, XM_017009356.2:c.157A>G, XM_017009356.1:c.157A>G, XM_017009360.2:c.157A>G, XM_017009360.1:c.157A>G, XM_017009361.2:c.157A>G, XM_017009361.1:c.157A>G, XM_017009359.2:c.157A>G, XM_017009359.1:c.157A>G, XM_017009358.2:c.157A>G, XM_017009358.1:c.157A>G, XM_047417106.1:c.157A>G, XM_047417108.1:c.157A>G, NM_001394339.1:c.157A>G, XP_005265946.1:p.Arg53Gly, XP_011532822.1:p.Arg53Gly, XP_011532830.1:p.Arg53Gly, XP_016864844.1:p.Arg53Gly, XP_016864841.1:p.Arg53Gly, XP_016864846.1:p.Arg53Gly, XP_016864843.1:p.Arg53Gly, XP_016864845.1:p.Arg53Gly, XP_016864849.1:p.Arg53Gly, XP_016864850.1:p.Arg53Gly, XP_016864848.1:p.Arg53Gly, XP_016864847.1:p.Arg53Gly, XP_047273062.1:p.Arg53Gly, XP_047273064.1:p.Arg53Gly, NP_001381268.1:p.Arg53Gly

                              15.

                              rs1466816163 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                5:177731574 (GRCh38)
                                5:177158575 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:177731573:G:T
                                Gene:
                                FAM153A (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                HGVS:
                                NC_000005.10:g.177731574G>T, NC_000005.9:g.177158575G>T, NM_173663.5:c.626C>A, NM_173663.4:c.626C>A, NM_173663.3:c.626C>A, XM_011534521.4:c.626C>A, XM_011534521.3:c.626C>A, XM_011534521.2:c.626C>A, XM_011534521.1:c.626C>A, XM_006714849.4:c.626C>A, XM_006714849.3:c.626C>A, XM_006714849.2:c.626C>A, XM_006714849.1:c.626C>A, XM_005265889.4:c.857C>A, XM_005265889.3:c.857C>A, XM_005265889.2:c.857C>A, XM_005265889.1:c.857C>A, XM_011534520.3:c.851C>A, XM_011534520.2:c.851C>A, XM_011534520.1:c.851C>A, XM_011534528.3:c.461C>A, XM_011534528.2:c.461C>A, XM_011534528.1:c.461C>A, XM_017009355.2:c.857C>A, XM_017009355.1:c.857C>A, XM_017009352.2:c.857C>A, XM_017009352.1:c.857C>A, XM_017009363.2:c.698C>A, XM_017009363.1:c.698C>A, XM_017009365.2:c.692C>A, XM_017009365.1:c.692C>A, XM_017009369.2:c.626C>A, XM_017009369.1:c.626C>A, XM_017009364.2:c.698C>A, XM_017009364.1:c.698C>A, NR_146226.2:n.880C>A, NR_146226.1:n.880C>A, XM_017009362.2:c.713C>A, XM_017009362.1:c.713C>A, NR_146227.2:n.916C>A, NR_146227.1:n.916C>A, XM_017009357.2:c.857C>A, XM_017009357.1:c.857C>A, XM_017009354.2:c.857C>A, XM_017009354.1:c.857C>A, XM_017009356.2:c.857C>A, XM_017009356.1:c.857C>A, XM_017009360.2:c.857C>A, XM_017009360.1:c.857C>A, XM_017009361.2:c.857C>A, XM_017009361.1:c.857C>A, XM_017009359.2:c.857C>A, XM_017009359.1:c.857C>A, XM_017009358.2:c.857C>A, XM_017009358.1:c.857C>A, XM_047417107.1:c.626C>A, NM_001394339.1:c.857C>A, NP_775934.3:p.Ala209Glu, XP_011532823.1:p.Ala209Glu, XP_006714912.1:p.Ala209Glu, XP_005265946.1:p.Ala286Glu, XP_011532822.1:p.Ala284Glu, XP_011532830.1:p.Ala154Glu, XP_016864844.1:p.Ala286Glu, XP_016864841.1:p.Ala286Glu, XP_016864852.1:p.Ala233Glu, XP_016864854.1:p.Ala231Glu, XP_016864858.1:p.Ala209Glu, XP_016864853.1:p.Ala233Glu, XP_016864851.1:p.Ala238Glu, XP_016864846.1:p.Ala286Glu, XP_016864843.1:p.Ala286Glu, XP_016864845.1:p.Ala286Glu, XP_016864849.1:p.Ala286Glu, XP_016864850.1:p.Ala286Glu, XP_016864848.1:p.Ala286Glu, XP_016864847.1:p.Ala286Glu, XP_047273063.1:p.Ala209Glu, NP_001381268.1:p.Ala286Glu

                                16.

                                rs1459507719 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:177750987 (GRCh38)
                                  5:177177988 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:177750986:C:T
                                  Gene:
                                  FAM153A (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000015/2 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.177750987C>T, NC_000005.9:g.177177988C>T, XM_005265889.4:c.97G>A, XM_005265889.3:c.97G>A, XM_005265889.2:c.97G>A, XM_005265889.1:c.97G>A, XM_011534520.3:c.97G>A, XM_011534520.2:c.97G>A, XM_011534520.1:c.97G>A, XM_011534528.3:c.97G>A, XM_011534528.2:c.97G>A, XM_011534528.1:c.97G>A, XM_017009355.2:c.97G>A, XM_017009355.1:c.97G>A, XM_017009352.2:c.97G>A, XM_017009352.1:c.97G>A, XM_017009357.2:c.97G>A, XM_017009357.1:c.97G>A, XM_017009354.2:c.97G>A, XM_017009354.1:c.97G>A, XM_017009356.2:c.97G>A, XM_017009356.1:c.97G>A, XM_017009360.2:c.97G>A, XM_017009360.1:c.97G>A, XM_017009361.2:c.97G>A, XM_017009361.1:c.97G>A, XM_017009359.2:c.97G>A, XM_017009359.1:c.97G>A, XM_017009358.2:c.97G>A, XM_017009358.1:c.97G>A, XM_047417106.1:c.97G>A, XM_047417107.1:c.-85G>A, XM_047417108.1:c.97G>A, NM_001394339.1:c.97G>A, XP_005265946.1:p.Glu33Lys, XP_011532822.1:p.Glu33Lys, XP_011532830.1:p.Glu33Lys, XP_016864844.1:p.Glu33Lys, XP_016864841.1:p.Glu33Lys, XP_016864846.1:p.Glu33Lys, XP_016864843.1:p.Glu33Lys, XP_016864845.1:p.Glu33Lys, XP_016864849.1:p.Glu33Lys, XP_016864850.1:p.Glu33Lys, XP_016864848.1:p.Glu33Lys, XP_016864847.1:p.Glu33Lys, XP_047273062.1:p.Glu33Lys, XP_047273064.1:p.Glu33Lys, NP_001381268.1:p.Glu33Lys

                                  17.

                                  rs1457182926 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:177724315 (GRCh38)
                                    5:177151316 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:177724314:C:T
                                    Gene:
                                    FAM153A (Varview), LOC107986489 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000005.10:g.177724315C>T, NC_000005.9:g.177151316C>T, NM_173663.5:c.819G>A, NM_173663.4:c.819G>A, NM_173663.3:c.819G>A, XM_011534521.4:c.819G>A, XM_011534521.3:c.819G>A, XM_011534521.2:c.819G>A, XM_011534521.1:c.819G>A, XM_006714849.4:c.819G>A, XM_006714849.3:c.819G>A, XM_006714849.2:c.819G>A, XM_006714849.1:c.819G>A, XM_005265889.4:c.1050G>A, XM_005265889.3:c.1050G>A, XM_005265889.2:c.1050G>A, XM_005265889.1:c.1050G>A, XM_011534520.3:c.1044G>A, XM_011534520.2:c.1044G>A, XM_011534520.1:c.1044G>A, XM_011534528.3:c.654G>A, XM_011534528.2:c.654G>A, XM_011534528.1:c.654G>A, XM_017009355.2:c.1050G>A, XM_017009355.1:c.1050G>A, XM_017009352.2:c.1050G>A, XM_017009352.1:c.1050G>A, XM_017009363.2:c.891G>A, XM_017009363.1:c.891G>A, XM_017009365.2:c.885G>A, XM_017009365.1:c.885G>A, XM_017009369.2:c.819G>A, XM_017009369.1:c.819G>A, XM_017009364.2:c.891G>A, XM_017009364.1:c.891G>A, NR_146226.2:n.1073G>A, NR_146226.1:n.1073G>A, XM_017009362.2:c.906G>A, XM_017009362.1:c.906G>A, NR_146227.2:n.1109G>A, NR_146227.1:n.1109G>A, XM_017009357.2:c.1050G>A, XM_017009357.1:c.1050G>A, XM_017009354.2:c.1050G>A, XM_017009354.1:c.1050G>A, XM_017009356.2:c.1050G>A, XM_017009356.1:c.1050G>A, XM_017009360.2:c.1050G>A, XM_017009360.1:c.1050G>A, XM_017009361.2:c.1050G>A, XM_017009361.1:c.1050G>A, XM_017009359.2:c.1050G>A, XM_017009359.1:c.1050G>A, XM_017009358.2:c.1050G>A, XM_017009358.1:c.1050G>A, XM_047417106.1:c.948G>A, XM_047417107.1:c.819G>A, XM_047417108.1:c.552G>A, NM_001394339.1:c.1050G>A

                                    18.

                                    rs1456117028 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:177741324 (GRCh38)
                                      5:177168325 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:177741323:C:T
                                      Gene:
                                      FAM153A (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.00003/2 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.177741324C>T, NC_000005.9:g.177168325C>T, NM_173663.5:c.142G>A, NM_173663.4:c.142G>A, NM_173663.3:c.142G>A, XM_011534521.4:c.142G>A, XM_011534521.3:c.142G>A, XM_011534521.2:c.142G>A, XM_011534521.1:c.142G>A, XM_006714849.4:c.142G>A, XM_006714849.3:c.142G>A, XM_006714849.2:c.142G>A, XM_006714849.1:c.142G>A, XM_005265889.4:c.373G>A, XM_005265889.3:c.373G>A, XM_005265889.2:c.373G>A, XM_005265889.1:c.373G>A, XM_011534520.3:c.373G>A, XM_011534520.2:c.373G>A, XM_011534520.1:c.373G>A, XM_017009355.2:c.373G>A, XM_017009355.1:c.373G>A, XM_017009352.2:c.373G>A, XM_017009352.1:c.373G>A, XM_017009363.2:c.214G>A, XM_017009363.1:c.214G>A, XM_017009365.2:c.214G>A, XM_017009365.1:c.214G>A, XM_017009369.2:c.142G>A, XM_017009369.1:c.142G>A, XM_017009364.2:c.214G>A, XM_017009364.1:c.214G>A, NR_146226.2:n.396G>A, NR_146226.1:n.396G>A, XM_017009362.2:c.229G>A, XM_017009362.1:c.229G>A, NR_146227.2:n.432G>A, NR_146227.1:n.432G>A, XM_017009357.2:c.373G>A, XM_017009357.1:c.373G>A, XM_017009354.2:c.373G>A, XM_017009354.1:c.373G>A, XM_017009356.2:c.373G>A, XM_017009356.1:c.373G>A, XM_017009360.2:c.373G>A, XM_017009360.1:c.373G>A, XM_017009361.2:c.373G>A, XM_017009361.1:c.373G>A, XM_017009359.2:c.373G>A, XM_017009359.1:c.373G>A, XM_017009358.2:c.373G>A, XM_017009358.1:c.373G>A, XM_047417106.1:c.373G>A, XM_047417107.1:c.142G>A, NM_001394339.1:c.373G>A, NP_775934.3:p.Glu48Lys, XP_011532823.1:p.Glu48Lys, XP_006714912.1:p.Glu48Lys, XP_005265946.1:p.Glu125Lys, XP_011532822.1:p.Glu125Lys, XP_016864844.1:p.Glu125Lys, XP_016864841.1:p.Glu125Lys, XP_016864852.1:p.Glu72Lys, XP_016864854.1:p.Glu72Lys, XP_016864858.1:p.Glu48Lys, XP_016864853.1:p.Glu72Lys, XP_016864851.1:p.Glu77Lys, XP_016864846.1:p.Glu125Lys, XP_016864843.1:p.Glu125Lys, XP_016864845.1:p.Glu125Lys, XP_016864849.1:p.Glu125Lys, XP_016864850.1:p.Glu125Lys, XP_016864848.1:p.Glu125Lys, XP_016864847.1:p.Glu125Lys, XP_047273062.1:p.Glu125Lys, XP_047273063.1:p.Glu48Lys, NP_001381268.1:p.Glu125Lys

                                      19.

                                      rs1454193106 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        5:177741273 (GRCh38)
                                        5:177168274 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:177741272:A:G
                                        Gene:
                                        FAM153A (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000005.10:g.177741273A>G, NC_000005.9:g.177168274A>G, NM_173663.5:c.193T>C, NM_173663.4:c.193T>C, NM_173663.3:c.193T>C, XM_011534521.4:c.193T>C, XM_011534521.3:c.193T>C, XM_011534521.2:c.193T>C, XM_011534521.1:c.193T>C, XM_006714849.4:c.193T>C, XM_006714849.3:c.193T>C, XM_006714849.2:c.193T>C, XM_006714849.1:c.193T>C, XM_005265889.4:c.424T>C, XM_005265889.3:c.424T>C, XM_005265889.2:c.424T>C, XM_005265889.1:c.424T>C, XM_011534520.3:c.424T>C, XM_011534520.2:c.424T>C, XM_011534520.1:c.424T>C, XM_017009355.2:c.424T>C, XM_017009355.1:c.424T>C, XM_017009352.2:c.424T>C, XM_017009352.1:c.424T>C, XM_017009363.2:c.265T>C, XM_017009363.1:c.265T>C, XM_017009365.2:c.265T>C, XM_017009365.1:c.265T>C, XM_017009369.2:c.193T>C, XM_017009369.1:c.193T>C, XM_017009364.2:c.265T>C, XM_017009364.1:c.265T>C, NR_146226.2:n.447T>C, NR_146226.1:n.447T>C, XM_017009362.2:c.280T>C, XM_017009362.1:c.280T>C, NR_146227.2:n.483T>C, NR_146227.1:n.483T>C, XM_017009357.2:c.424T>C, XM_017009357.1:c.424T>C, XM_017009354.2:c.424T>C, XM_017009354.1:c.424T>C, XM_017009356.2:c.424T>C, XM_017009356.1:c.424T>C, XM_017009360.2:c.424T>C, XM_017009360.1:c.424T>C, XM_017009361.2:c.424T>C, XM_017009361.1:c.424T>C, XM_017009359.2:c.424T>C, XM_017009359.1:c.424T>C, XM_017009358.2:c.424T>C, XM_017009358.1:c.424T>C, XM_047417106.1:c.424T>C, XM_047417107.1:c.193T>C, NM_001394339.1:c.424T>C

                                        20.

                                        rs1447584614 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          5:177750999 (GRCh38)
                                          5:177178000 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:177750998:C:A,NC_000005.10:177750998:C:T
                                          Gene:
                                          FAM153A (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.00008/6 (GnomAD_exomes)
                                          T=0.00069/2 (KOREAN)
                                          HGVS:
                                          NC_000005.10:g.177750999C>A, NC_000005.10:g.177750999C>T, NC_000005.9:g.177178000C>A, NC_000005.9:g.177178000C>T, XM_005265889.4:c.85G>T, XM_005265889.4:c.85G>A, XM_005265889.3:c.85G>T, XM_005265889.3:c.85G>A, XM_005265889.2:c.85G>T, XM_005265889.2:c.85G>A, XM_005265889.1:c.85G>T, XM_005265889.1:c.85G>A, XM_011534520.3:c.85G>T, XM_011534520.3:c.85G>A, XM_011534520.2:c.85G>T, XM_011534520.2:c.85G>A, XM_011534520.1:c.85G>T, XM_011534520.1:c.85G>A, XM_011534528.3:c.85G>T, XM_011534528.3:c.85G>A, XM_011534528.2:c.85G>T, XM_011534528.2:c.85G>A, XM_011534528.1:c.85G>T, XM_011534528.1:c.85G>A, XM_017009355.2:c.85G>T, XM_017009355.2:c.85G>A, XM_017009355.1:c.85G>T, XM_017009355.1:c.85G>A, XM_017009352.2:c.85G>T, XM_017009352.2:c.85G>A, XM_017009352.1:c.85G>T, XM_017009352.1:c.85G>A, XM_017009357.2:c.85G>T, XM_017009357.2:c.85G>A, XM_017009357.1:c.85G>T, XM_017009357.1:c.85G>A, XM_017009354.2:c.85G>T, XM_017009354.2:c.85G>A, XM_017009354.1:c.85G>T, XM_017009354.1:c.85G>A, XM_017009356.2:c.85G>T, XM_017009356.2:c.85G>A, XM_017009356.1:c.85G>T, XM_017009356.1:c.85G>A, XM_017009360.2:c.85G>T, XM_017009360.2:c.85G>A, XM_017009360.1:c.85G>T, XM_017009360.1:c.85G>A, XM_017009361.2:c.85G>T, XM_017009361.2:c.85G>A, XM_017009361.1:c.85G>T, XM_017009361.1:c.85G>A, XM_017009359.2:c.85G>T, XM_017009359.2:c.85G>A, XM_017009359.1:c.85G>T, XM_017009359.1:c.85G>A, XM_017009358.2:c.85G>T, XM_017009358.2:c.85G>A, XM_017009358.1:c.85G>T, XM_017009358.1:c.85G>A, XM_047417106.1:c.85G>T, XM_047417106.1:c.85G>A, XM_047417107.1:c.-97G>T, XM_047417107.1:c.-97G>A, XM_047417108.1:c.85G>T, XM_047417108.1:c.85G>A, NM_001394339.1:c.85G>T, NM_001394339.1:c.85G>A, XP_005265946.1:p.Val29Phe, XP_005265946.1:p.Val29Ile, XP_011532822.1:p.Val29Phe, XP_011532822.1:p.Val29Ile, XP_011532830.1:p.Val29Phe, XP_011532830.1:p.Val29Ile, XP_016864844.1:p.Val29Phe, XP_016864844.1:p.Val29Ile, XP_016864841.1:p.Val29Phe, XP_016864841.1:p.Val29Ile, XP_016864846.1:p.Val29Phe, XP_016864846.1:p.Val29Ile, XP_016864843.1:p.Val29Phe, XP_016864843.1:p.Val29Ile, XP_016864845.1:p.Val29Phe, XP_016864845.1:p.Val29Ile, XP_016864849.1:p.Val29Phe, XP_016864849.1:p.Val29Ile, XP_016864850.1:p.Val29Phe, XP_016864850.1:p.Val29Ile, XP_016864848.1:p.Val29Phe, XP_016864848.1:p.Val29Ile, XP_016864847.1:p.Val29Phe, XP_016864847.1:p.Val29Ile, XP_047273062.1:p.Val29Phe, XP_047273062.1:p.Val29Ile, XP_047273064.1:p.Val29Phe, XP_047273064.1:p.Val29Ile, NP_001381268.1:p.Val29Phe, NP_001381268.1:p.Val29Ile

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