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Items: 1 to 20 of 140

1.

rs1484384525 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:149933700 (GRCh38)
    X:149101918 (GRCh37)
    Canonical SPDI:
    NC_000023.11:149933699:C:T
    Gene:
    EOLA2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000023.11:g.149933700C>T, NW_004070890.2:g.5458098C>T, NC_000023.10:g.149101918C>T, XM_005274701.4:c.175G>A, XM_005274701.3:c.175G>A, XM_005274701.2:c.175G>A, XM_005274701.1:c.175G>A, XM_011531181.4:c.175G>A, XM_011531181.3:c.175G>A, XM_011531181.2:c.175G>A, XM_011531181.1:c.175G>A, XM_006724826.4:c.175G>A, XM_006724826.3:c.175G>A, XM_006724826.2:c.175G>A, XM_006724826.1:c.175G>A, XM_005274702.4:c.175G>A, XM_005274702.3:c.175G>A, XM_005274702.2:c.175G>A, XM_005274702.1:c.175G>A, XM_017029588.3:c.175G>A, XM_017029588.2:c.175G>A, XM_017029588.1:c.175G>A, XM_017029591.3:c.175G>A, XM_017029591.2:c.175G>A, XM_017029591.1:c.175G>A, XM_011531180.3:c.175G>A, XM_011531180.2:c.175G>A, XM_011531180.1:c.175G>A, XM_017029593.3:c.175G>A, XM_017029593.2:c.175G>A, XM_017029593.1:c.175G>A, XM_005274700.3:c.175G>A, XM_005274700.2:c.175G>A, XM_005274700.1:c.175G>A, XM_017029592.3:c.175G>A, XM_017029592.2:c.175G>A, XM_017029592.1:c.175G>A, XM_017029585.3:c.175G>A, XM_017029585.2:c.175G>A, XM_017029585.1:c.175G>A, XM_005274699.3:c.175G>A, XM_005274699.2:c.175G>A, XM_005274699.1:c.175G>A, XM_005274698.3:c.175G>A, XM_005274698.2:c.175G>A, XM_005274698.1:c.175G>A, XM_017029589.2:c.175G>A, XM_017029589.1:c.175G>A, NM_001013845.2:c.175G>A, NM_001013845.1:c.175G>A, XM_024452391.2:c.175G>A, XM_024452391.1:c.175G>A, XM_047442175.1:c.175G>A, XM_047442177.1:c.175G>A, XM_047442176.1:c.175G>A, XM_047442174.1:c.175G>A, XM_047442178.1:c.175G>A, XM_047442179.1:c.175G>A, XP_005274758.1:p.Glu59Lys, XP_011529483.1:p.Glu59Lys, XP_006724889.1:p.Glu59Lys, XP_005274759.1:p.Glu59Lys, XP_016885077.1:p.Glu59Lys, XP_016885080.1:p.Glu59Lys, XP_011529482.1:p.Glu59Lys, XP_016885082.1:p.Glu59Lys, XP_005274757.1:p.Glu59Lys, XP_016885081.1:p.Glu59Lys, XP_016885074.1:p.Glu59Lys, XP_005274756.1:p.Glu59Lys, XP_005274755.1:p.Glu59Lys, XP_016885078.1:p.Glu59Lys, NP_001013867.1:p.Glu59Lys, XP_024308159.1:p.Glu59Lys, XP_047298131.1:p.Glu59Lys, XP_047298133.1:p.Glu59Lys, XP_047298132.1:p.Glu59Lys, XP_047298130.1:p.Glu59Lys, XP_047298134.1:p.Glu59Lys, XP_047298135.1:p.Glu59Lys

    2.

    rs1473950933 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:149933771 (GRCh38)
      X:149101989 (GRCh37)
      Canonical SPDI:
      NC_000023.11:149933770:C:T
      Gene:
      EOLA2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000005/1 (GnomAD_exomes)
      T=0.000029/3 (GnomAD)
      T=0.00003/8 (TOPMED)
      HGVS:
      NC_000023.11:g.149933771C>T, NW_004070890.2:g.5458169C>T, NC_000023.10:g.149101989C>T, XM_005274701.4:c.104G>A, XM_005274701.3:c.104G>A, XM_005274701.2:c.104G>A, XM_005274701.1:c.104G>A, XM_011531181.4:c.104G>A, XM_011531181.3:c.104G>A, XM_011531181.2:c.104G>A, XM_011531181.1:c.104G>A, XM_006724826.4:c.104G>A, XM_006724826.3:c.104G>A, XM_006724826.2:c.104G>A, XM_006724826.1:c.104G>A, XM_005274702.4:c.104G>A, XM_005274702.3:c.104G>A, XM_005274702.2:c.104G>A, XM_005274702.1:c.104G>A, XM_017029588.3:c.104G>A, XM_017029588.2:c.104G>A, XM_017029588.1:c.104G>A, XM_017029591.3:c.104G>A, XM_017029591.2:c.104G>A, XM_017029591.1:c.104G>A, XM_011531180.3:c.104G>A, XM_011531180.2:c.104G>A, XM_011531180.1:c.104G>A, XM_017029593.3:c.104G>A, XM_017029593.2:c.104G>A, XM_017029593.1:c.104G>A, XM_005274700.3:c.104G>A, XM_005274700.2:c.104G>A, XM_005274700.1:c.104G>A, XM_017029592.3:c.104G>A, XM_017029592.2:c.104G>A, XM_017029592.1:c.104G>A, XM_017029585.3:c.104G>A, XM_017029585.2:c.104G>A, XM_017029585.1:c.104G>A, XM_005274699.3:c.104G>A, XM_005274699.2:c.104G>A, XM_005274699.1:c.104G>A, XM_005274698.3:c.104G>A, XM_005274698.2:c.104G>A, XM_005274698.1:c.104G>A, XM_017029589.2:c.104G>A, XM_017029589.1:c.104G>A, NM_001013845.2:c.104G>A, NM_001013845.1:c.104G>A, XM_024452391.2:c.104G>A, XM_024452391.1:c.104G>A, XM_047442175.1:c.104G>A, XM_047442177.1:c.104G>A, XM_047442176.1:c.104G>A, XM_047442174.1:c.104G>A, XM_047442178.1:c.104G>A, XM_047442179.1:c.104G>A, XP_005274758.1:p.Arg35Gln, XP_011529483.1:p.Arg35Gln, XP_006724889.1:p.Arg35Gln, XP_005274759.1:p.Arg35Gln, XP_016885077.1:p.Arg35Gln, XP_016885080.1:p.Arg35Gln, XP_011529482.1:p.Arg35Gln, XP_016885082.1:p.Arg35Gln, XP_005274757.1:p.Arg35Gln, XP_016885081.1:p.Arg35Gln, XP_016885074.1:p.Arg35Gln, XP_005274756.1:p.Arg35Gln, XP_005274755.1:p.Arg35Gln, XP_016885078.1:p.Arg35Gln, NP_001013867.1:p.Arg35Gln, XP_024308159.1:p.Arg35Gln, XP_047298131.1:p.Arg35Gln, XP_047298133.1:p.Arg35Gln, XP_047298132.1:p.Arg35Gln, XP_047298130.1:p.Arg35Gln, XP_047298134.1:p.Arg35Gln, XP_047298135.1:p.Arg35Gln

      3.

      rs1467693994 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:149932597 (GRCh38)
        X:149100815 (GRCh37)
        Canonical SPDI:
        NC_000023.11:149932596:C:T
        Gene:
        EOLA2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.00001/1 (GnomAD)
        HGVS:
        NC_000023.11:g.149932597C>T, NW_004070890.2:g.5456995C>T, NC_000023.10:g.149100815C>T, XM_005274701.4:c.424G>A, XM_005274701.3:c.424G>A, XM_005274701.2:c.424G>A, XM_005274701.1:c.424G>A, XM_011531181.4:c.424G>A, XM_011531181.3:c.424G>A, XM_011531181.2:c.424G>A, XM_011531181.1:c.424G>A, XM_006724826.4:c.424G>A, XM_006724826.3:c.424G>A, XM_006724826.2:c.424G>A, XM_006724826.1:c.424G>A, XM_005274702.4:c.424G>A, XM_005274702.3:c.424G>A, XM_005274702.2:c.424G>A, XM_005274702.1:c.424G>A, XM_017029588.3:c.424G>A, XM_017029588.2:c.424G>A, XM_017029588.1:c.424G>A, XM_017029591.3:c.424G>A, XM_017029591.2:c.424G>A, XM_017029591.1:c.424G>A, XM_011531180.3:c.424G>A, XM_011531180.2:c.424G>A, XM_011531180.1:c.424G>A, XM_017029593.3:c.424G>A, XM_017029593.2:c.424G>A, XM_017029593.1:c.424G>A, XM_005274700.3:c.424G>A, XM_005274700.2:c.424G>A, XM_005274700.1:c.424G>A, XM_017029592.3:c.424G>A, XM_017029592.2:c.424G>A, XM_017029592.1:c.424G>A, XM_017029585.3:c.424G>A, XM_017029585.2:c.424G>A, XM_017029585.1:c.424G>A, XM_005274699.3:c.424G>A, XM_005274699.2:c.424G>A, XM_005274699.1:c.424G>A, XM_005274698.3:c.424G>A, XM_005274698.2:c.424G>A, XM_005274698.1:c.424G>A, XM_017029589.2:c.424G>A, XM_017029589.1:c.424G>A, NM_001013845.2:c.424G>A, NM_001013845.1:c.424G>A, XM_024452391.2:c.424G>A, XM_024452391.1:c.424G>A, XM_047442175.1:c.424G>A, XM_047442177.1:c.424G>A, XM_047442176.1:c.424G>A, XM_047442174.1:c.424G>A, XM_047442178.1:c.424G>A, XM_047442179.1:c.424G>A, XP_005274758.1:p.Val142Ile, XP_011529483.1:p.Val142Ile, XP_006724889.1:p.Val142Ile, XP_005274759.1:p.Val142Ile, XP_016885077.1:p.Val142Ile, XP_016885080.1:p.Val142Ile, XP_011529482.1:p.Val142Ile, XP_016885082.1:p.Val142Ile, XP_005274757.1:p.Val142Ile, XP_016885081.1:p.Val142Ile, XP_016885074.1:p.Val142Ile, XP_005274756.1:p.Val142Ile, XP_005274755.1:p.Val142Ile, XP_016885078.1:p.Val142Ile, NP_001013867.1:p.Val142Ile, XP_024308159.1:p.Val142Ile, XP_047298131.1:p.Val142Ile, XP_047298133.1:p.Val142Ile, XP_047298132.1:p.Val142Ile, XP_047298130.1:p.Val142Ile, XP_047298134.1:p.Val142Ile, XP_047298135.1:p.Val142Ile

        4.

        rs1440747543 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          X:149932547 (GRCh38)
          X:149100765 (GRCh37)
          Canonical SPDI:
          NC_000023.11:149932546:C:A,NC_000023.11:149932546:C:T
          Gene:
          EOLA2 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000005/1 (GnomAD_exomes)
          T=0.000008/2 (TOPMED)
          T=0.00002/2 (GnomAD)
          HGVS:
          NC_000023.11:g.149932547C>A, NC_000023.11:g.149932547C>T, NW_004070890.2:g.5456945C>A, NW_004070890.2:g.5456945C>T, NC_000023.10:g.149100765C>A, NC_000023.10:g.149100765C>T, XM_005274701.4:c.474G>T, XM_005274701.4:c.474G>A, XM_005274701.3:c.474G>T, XM_005274701.3:c.474G>A, XM_005274701.2:c.474G>T, XM_005274701.2:c.474G>A, XM_005274701.1:c.474G>T, XM_005274701.1:c.474G>A, XM_006724826.4:c.474G>T, XM_006724826.4:c.474G>A, XM_006724826.3:c.474G>T, XM_006724826.3:c.474G>A, XM_006724826.2:c.474G>T, XM_006724826.2:c.474G>A, XM_006724826.1:c.474G>T, XM_006724826.1:c.474G>A, XM_005274702.4:c.474G>T, XM_005274702.4:c.474G>A, XM_005274702.3:c.474G>T, XM_005274702.3:c.474G>A, XM_005274702.2:c.474G>T, XM_005274702.2:c.474G>A, XM_005274702.1:c.474G>T, XM_005274702.1:c.474G>A, XM_017029588.3:c.474G>T, XM_017029588.3:c.474G>A, XM_017029588.2:c.474G>T, XM_017029588.2:c.474G>A, XM_017029588.1:c.474G>T, XM_017029588.1:c.474G>A, XM_011531180.3:c.474G>T, XM_011531180.3:c.474G>A, XM_011531180.2:c.474G>T, XM_011531180.2:c.474G>A, XM_011531180.1:c.474G>T, XM_011531180.1:c.474G>A, XM_005274700.3:c.474G>T, XM_005274700.3:c.474G>A, XM_005274700.2:c.474G>T, XM_005274700.2:c.474G>A, XM_005274700.1:c.474G>T, XM_005274700.1:c.474G>A, XM_017029585.3:c.474G>T, XM_017029585.3:c.474G>A, XM_017029585.2:c.474G>T, XM_017029585.2:c.474G>A, XM_017029585.1:c.474G>T, XM_017029585.1:c.474G>A, XM_005274699.3:c.474G>T, XM_005274699.3:c.474G>A, XM_005274699.2:c.474G>T, XM_005274699.2:c.474G>A, XM_005274699.1:c.474G>T, XM_005274699.1:c.474G>A, XM_005274698.3:c.474G>T, XM_005274698.3:c.474G>A, XM_005274698.2:c.474G>T, XM_005274698.2:c.474G>A, XM_005274698.1:c.474G>T, XM_005274698.1:c.474G>A, XM_017029589.2:c.474G>T, XM_017029589.2:c.474G>A, XM_017029589.1:c.474G>T, XM_017029589.1:c.474G>A, NM_001013845.2:c.474G>T, NM_001013845.2:c.474G>A, NM_001013845.1:c.474G>T, NM_001013845.1:c.474G>A, XM_047442175.1:c.474G>T, XM_047442175.1:c.474G>A, XM_047442176.1:c.474G>T, XM_047442176.1:c.474G>A, XM_047442174.1:c.474G>T, XM_047442174.1:c.474G>A

          5.

          rs1438960119 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            X:149933777 (GRCh38)
            X:149101995 (GRCh37)
            Canonical SPDI:
            NC_000023.11:149933776:C:A
            Gene:
            EOLA2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.00001/1 (GnomAD)
            A=0.000016/3 (GnomAD_exomes)
            A=0.00003/8 (TOPMED)
            HGVS:
            NC_000023.11:g.149933777C>A, NW_004070890.2:g.5458175C>A, NC_000023.10:g.149101995C>A, XM_005274701.4:c.98G>T, XM_005274701.3:c.98G>T, XM_005274701.2:c.98G>T, XM_005274701.1:c.98G>T, XM_011531181.4:c.98G>T, XM_011531181.3:c.98G>T, XM_011531181.2:c.98G>T, XM_011531181.1:c.98G>T, XM_006724826.4:c.98G>T, XM_006724826.3:c.98G>T, XM_006724826.2:c.98G>T, XM_006724826.1:c.98G>T, XM_005274702.4:c.98G>T, XM_005274702.3:c.98G>T, XM_005274702.2:c.98G>T, XM_005274702.1:c.98G>T, XM_017029588.3:c.98G>T, XM_017029588.2:c.98G>T, XM_017029588.1:c.98G>T, XM_017029591.3:c.98G>T, XM_017029591.2:c.98G>T, XM_017029591.1:c.98G>T, XM_011531180.3:c.98G>T, XM_011531180.2:c.98G>T, XM_011531180.1:c.98G>T, XM_017029593.3:c.98G>T, XM_017029593.2:c.98G>T, XM_017029593.1:c.98G>T, XM_005274700.3:c.98G>T, XM_005274700.2:c.98G>T, XM_005274700.1:c.98G>T, XM_017029592.3:c.98G>T, XM_017029592.2:c.98G>T, XM_017029592.1:c.98G>T, XM_017029585.3:c.98G>T, XM_017029585.2:c.98G>T, XM_017029585.1:c.98G>T, XM_005274699.3:c.98G>T, XM_005274699.2:c.98G>T, XM_005274699.1:c.98G>T, XM_005274698.3:c.98G>T, XM_005274698.2:c.98G>T, XM_005274698.1:c.98G>T, XM_017029589.2:c.98G>T, XM_017029589.1:c.98G>T, NM_001013845.2:c.98G>T, NM_001013845.1:c.98G>T, XM_024452391.2:c.98G>T, XM_024452391.1:c.98G>T, XM_047442175.1:c.98G>T, XM_047442177.1:c.98G>T, XM_047442176.1:c.98G>T, XM_047442174.1:c.98G>T, XM_047442178.1:c.98G>T, XM_047442179.1:c.98G>T, XP_005274758.1:p.Ser33Ile, XP_011529483.1:p.Ser33Ile, XP_006724889.1:p.Ser33Ile, XP_005274759.1:p.Ser33Ile, XP_016885077.1:p.Ser33Ile, XP_016885080.1:p.Ser33Ile, XP_011529482.1:p.Ser33Ile, XP_016885082.1:p.Ser33Ile, XP_005274757.1:p.Ser33Ile, XP_016885081.1:p.Ser33Ile, XP_016885074.1:p.Ser33Ile, XP_005274756.1:p.Ser33Ile, XP_005274755.1:p.Ser33Ile, XP_016885078.1:p.Ser33Ile, NP_001013867.1:p.Ser33Ile, XP_024308159.1:p.Ser33Ile, XP_047298131.1:p.Ser33Ile, XP_047298133.1:p.Ser33Ile, XP_047298132.1:p.Ser33Ile, XP_047298130.1:p.Ser33Ile, XP_047298134.1:p.Ser33Ile, XP_047298135.1:p.Ser33Ile

            6.

            rs1433336456 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              X:149932562 (GRCh38)
              X:149100780 (GRCh37)
              Canonical SPDI:
              NC_000023.11:149932561:A:T
              Gene:
              EOLA2 (Varview)
              Functional Consequence:
              synonymous_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000023.11:g.149932562A>T, NW_004070890.2:g.5456960A>T, NC_000023.10:g.149100780A>T, XM_005274701.4:c.459T>A, XM_005274701.3:c.459T>A, XM_005274701.2:c.459T>A, XM_005274701.1:c.459T>A, XM_006724826.4:c.459T>A, XM_006724826.3:c.459T>A, XM_006724826.2:c.459T>A, XM_006724826.1:c.459T>A, XM_005274702.4:c.459T>A, XM_005274702.3:c.459T>A, XM_005274702.2:c.459T>A, XM_005274702.1:c.459T>A, XM_017029588.3:c.459T>A, XM_017029588.2:c.459T>A, XM_017029588.1:c.459T>A, XM_011531180.3:c.459T>A, XM_011531180.2:c.459T>A, XM_011531180.1:c.459T>A, XM_005274700.3:c.459T>A, XM_005274700.2:c.459T>A, XM_005274700.1:c.459T>A, XM_017029585.3:c.459T>A, XM_017029585.2:c.459T>A, XM_017029585.1:c.459T>A, XM_005274699.3:c.459T>A, XM_005274699.2:c.459T>A, XM_005274699.1:c.459T>A, XM_005274698.3:c.459T>A, XM_005274698.2:c.459T>A, XM_005274698.1:c.459T>A, XM_017029589.2:c.459T>A, XM_017029589.1:c.459T>A, NM_001013845.2:c.459T>A, NM_001013845.1:c.459T>A, XM_047442175.1:c.459T>A, XM_047442176.1:c.459T>A, XM_047442174.1:c.459T>A

              7.

              rs1430472169 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:149932702 (GRCh38)
                X:149100920 (GRCh37)
                Canonical SPDI:
                NC_000023.11:149932701:G:A
                Gene:
                EOLA2 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000023.11:g.149932702G>A, NW_004070890.2:g.5457100G>A, NC_000023.10:g.149100920G>A, XM_005274701.4:c.319C>T, XM_005274701.3:c.319C>T, XM_005274701.2:c.319C>T, XM_005274701.1:c.319C>T, XM_011531181.4:c.319C>T, XM_011531181.3:c.319C>T, XM_011531181.2:c.319C>T, XM_011531181.1:c.319C>T, XM_006724826.4:c.319C>T, XM_006724826.3:c.319C>T, XM_006724826.2:c.319C>T, XM_006724826.1:c.319C>T, XM_005274702.4:c.319C>T, XM_005274702.3:c.319C>T, XM_005274702.2:c.319C>T, XM_005274702.1:c.319C>T, XM_017029588.3:c.319C>T, XM_017029588.2:c.319C>T, XM_017029588.1:c.319C>T, XM_017029591.3:c.319C>T, XM_017029591.2:c.319C>T, XM_017029591.1:c.319C>T, XM_011531180.3:c.319C>T, XM_011531180.2:c.319C>T, XM_011531180.1:c.319C>T, XM_017029593.3:c.319C>T, XM_017029593.2:c.319C>T, XM_017029593.1:c.319C>T, XM_005274700.3:c.319C>T, XM_005274700.2:c.319C>T, XM_005274700.1:c.319C>T, XM_017029592.3:c.319C>T, XM_017029592.2:c.319C>T, XM_017029592.1:c.319C>T, XM_017029585.3:c.319C>T, XM_017029585.2:c.319C>T, XM_017029585.1:c.319C>T, XM_005274699.3:c.319C>T, XM_005274699.2:c.319C>T, XM_005274699.1:c.319C>T, XM_005274698.3:c.319C>T, XM_005274698.2:c.319C>T, XM_005274698.1:c.319C>T, XM_017029589.2:c.319C>T, XM_017029589.1:c.319C>T, NM_001013845.2:c.319C>T, NM_001013845.1:c.319C>T, XM_024452391.2:c.319C>T, XM_024452391.1:c.319C>T, XM_047442175.1:c.319C>T, XM_047442177.1:c.319C>T, XM_047442176.1:c.319C>T, XM_047442174.1:c.319C>T, XM_047442178.1:c.319C>T, XM_047442179.1:c.319C>T

                8.

                rs1430253914 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:149933748 (GRCh38)
                  X:149101966 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:149933747:T:C
                  Gene:
                  EOLA2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000142/2 (ALFA)
                  C=0.000005/1 (GnomAD_exomes)
                  C=0.000068/18 (TOPMED)
                  HGVS:
                  NC_000023.11:g.149933748T>C, NW_004070890.2:g.5458146T>C, NC_000023.10:g.149101966T>C, XM_005274701.4:c.127A>G, XM_005274701.3:c.127A>G, XM_005274701.2:c.127A>G, XM_005274701.1:c.127A>G, XM_011531181.4:c.127A>G, XM_011531181.3:c.127A>G, XM_011531181.2:c.127A>G, XM_011531181.1:c.127A>G, XM_006724826.4:c.127A>G, XM_006724826.3:c.127A>G, XM_006724826.2:c.127A>G, XM_006724826.1:c.127A>G, XM_005274702.4:c.127A>G, XM_005274702.3:c.127A>G, XM_005274702.2:c.127A>G, XM_005274702.1:c.127A>G, XM_017029588.3:c.127A>G, XM_017029588.2:c.127A>G, XM_017029588.1:c.127A>G, XM_017029591.3:c.127A>G, XM_017029591.2:c.127A>G, XM_017029591.1:c.127A>G, XM_011531180.3:c.127A>G, XM_011531180.2:c.127A>G, XM_011531180.1:c.127A>G, XM_017029593.3:c.127A>G, XM_017029593.2:c.127A>G, XM_017029593.1:c.127A>G, XM_005274700.3:c.127A>G, XM_005274700.2:c.127A>G, XM_005274700.1:c.127A>G, XM_017029592.3:c.127A>G, XM_017029592.2:c.127A>G, XM_017029592.1:c.127A>G, XM_017029585.3:c.127A>G, XM_017029585.2:c.127A>G, XM_017029585.1:c.127A>G, XM_005274699.3:c.127A>G, XM_005274699.2:c.127A>G, XM_005274699.1:c.127A>G, XM_005274698.3:c.127A>G, XM_005274698.2:c.127A>G, XM_005274698.1:c.127A>G, XM_017029589.2:c.127A>G, XM_017029589.1:c.127A>G, NM_001013845.2:c.127A>G, NM_001013845.1:c.127A>G, XM_024452391.2:c.127A>G, XM_024452391.1:c.127A>G, XM_047442175.1:c.127A>G, XM_047442177.1:c.127A>G, XM_047442176.1:c.127A>G, XM_047442174.1:c.127A>G, XM_047442178.1:c.127A>G, XM_047442179.1:c.127A>G, XP_005274758.1:p.Ile43Val, XP_011529483.1:p.Ile43Val, XP_006724889.1:p.Ile43Val, XP_005274759.1:p.Ile43Val, XP_016885077.1:p.Ile43Val, XP_016885080.1:p.Ile43Val, XP_011529482.1:p.Ile43Val, XP_016885082.1:p.Ile43Val, XP_005274757.1:p.Ile43Val, XP_016885081.1:p.Ile43Val, XP_016885074.1:p.Ile43Val, XP_005274756.1:p.Ile43Val, XP_005274755.1:p.Ile43Val, XP_016885078.1:p.Ile43Val, NP_001013867.1:p.Ile43Val, XP_024308159.1:p.Ile43Val, XP_047298131.1:p.Ile43Val, XP_047298133.1:p.Ile43Val, XP_047298132.1:p.Ile43Val, XP_047298130.1:p.Ile43Val, XP_047298134.1:p.Ile43Val, XP_047298135.1:p.Ile43Val

                  9.

                  rs1416754586 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    X:149933734 (GRCh38)
                    X:149101952 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:149933733:G:C
                    Gene:
                    EOLA2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000029/3 (GnomAD)
                    C=0.000038/10 (TOPMED)
                    HGVS:
                    NC_000023.11:g.149933734G>C, NW_004070890.2:g.5458132G>C, NC_000023.10:g.149101952G>C, XM_005274701.4:c.141C>G, XM_005274701.3:c.141C>G, XM_005274701.2:c.141C>G, XM_005274701.1:c.141C>G, XM_011531181.4:c.141C>G, XM_011531181.3:c.141C>G, XM_011531181.2:c.141C>G, XM_011531181.1:c.141C>G, XM_006724826.4:c.141C>G, XM_006724826.3:c.141C>G, XM_006724826.2:c.141C>G, XM_006724826.1:c.141C>G, XM_005274702.4:c.141C>G, XM_005274702.3:c.141C>G, XM_005274702.2:c.141C>G, XM_005274702.1:c.141C>G, XM_017029588.3:c.141C>G, XM_017029588.2:c.141C>G, XM_017029588.1:c.141C>G, XM_017029591.3:c.141C>G, XM_017029591.2:c.141C>G, XM_017029591.1:c.141C>G, XM_011531180.3:c.141C>G, XM_011531180.2:c.141C>G, XM_011531180.1:c.141C>G, XM_017029593.3:c.141C>G, XM_017029593.2:c.141C>G, XM_017029593.1:c.141C>G, XM_005274700.3:c.141C>G, XM_005274700.2:c.141C>G, XM_005274700.1:c.141C>G, XM_017029592.3:c.141C>G, XM_017029592.2:c.141C>G, XM_017029592.1:c.141C>G, XM_017029585.3:c.141C>G, XM_017029585.2:c.141C>G, XM_017029585.1:c.141C>G, XM_005274699.3:c.141C>G, XM_005274699.2:c.141C>G, XM_005274699.1:c.141C>G, XM_005274698.3:c.141C>G, XM_005274698.2:c.141C>G, XM_005274698.1:c.141C>G, XM_017029589.2:c.141C>G, XM_017029589.1:c.141C>G, NM_001013845.2:c.141C>G, NM_001013845.1:c.141C>G, XM_024452391.2:c.141C>G, XM_024452391.1:c.141C>G, XM_047442175.1:c.141C>G, XM_047442177.1:c.141C>G, XM_047442176.1:c.141C>G, XM_047442174.1:c.141C>G, XM_047442178.1:c.141C>G, XM_047442179.1:c.141C>G, XP_005274758.1:p.Asp47Glu, XP_011529483.1:p.Asp47Glu, XP_006724889.1:p.Asp47Glu, XP_005274759.1:p.Asp47Glu, XP_016885077.1:p.Asp47Glu, XP_016885080.1:p.Asp47Glu, XP_011529482.1:p.Asp47Glu, XP_016885082.1:p.Asp47Glu, XP_005274757.1:p.Asp47Glu, XP_016885081.1:p.Asp47Glu, XP_016885074.1:p.Asp47Glu, XP_005274756.1:p.Asp47Glu, XP_005274755.1:p.Asp47Glu, XP_016885078.1:p.Asp47Glu, NP_001013867.1:p.Asp47Glu, XP_024308159.1:p.Asp47Glu, XP_047298131.1:p.Asp47Glu, XP_047298133.1:p.Asp47Glu, XP_047298132.1:p.Asp47Glu, XP_047298130.1:p.Asp47Glu, XP_047298134.1:p.Asp47Glu, XP_047298135.1:p.Asp47Glu

                    10.

                    rs1409204280 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:149933804 (GRCh38)
                      X:149102022 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:149933803:T:C
                      Gene:
                      EOLA2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000023/6 (TOPMED)
                      HGVS:
                      NC_000023.11:g.149933804T>C, NW_004070890.2:g.5458202T>C, NC_000023.10:g.149102022T>C, XM_005274701.4:c.71A>G, XM_005274701.3:c.71A>G, XM_005274701.2:c.71A>G, XM_005274701.1:c.71A>G, XM_011531181.4:c.71A>G, XM_011531181.3:c.71A>G, XM_011531181.2:c.71A>G, XM_011531181.1:c.71A>G, XM_006724826.4:c.71A>G, XM_006724826.3:c.71A>G, XM_006724826.2:c.71A>G, XM_006724826.1:c.71A>G, XM_005274702.4:c.71A>G, XM_005274702.3:c.71A>G, XM_005274702.2:c.71A>G, XM_005274702.1:c.71A>G, XM_017029588.3:c.71A>G, XM_017029588.2:c.71A>G, XM_017029588.1:c.71A>G, XM_017029591.3:c.71A>G, XM_017029591.2:c.71A>G, XM_017029591.1:c.71A>G, XM_011531180.3:c.71A>G, XM_011531180.2:c.71A>G, XM_011531180.1:c.71A>G, XM_017029593.3:c.71A>G, XM_017029593.2:c.71A>G, XM_017029593.1:c.71A>G, XM_005274700.3:c.71A>G, XM_005274700.2:c.71A>G, XM_005274700.1:c.71A>G, XM_017029592.3:c.71A>G, XM_017029592.2:c.71A>G, XM_017029592.1:c.71A>G, XM_017029585.3:c.71A>G, XM_017029585.2:c.71A>G, XM_017029585.1:c.71A>G, XM_005274699.3:c.71A>G, XM_005274699.2:c.71A>G, XM_005274699.1:c.71A>G, XM_005274698.3:c.71A>G, XM_005274698.2:c.71A>G, XM_005274698.1:c.71A>G, XM_017029589.2:c.71A>G, XM_017029589.1:c.71A>G, NM_001013845.2:c.71A>G, NM_001013845.1:c.71A>G, XM_024452391.2:c.71A>G, XM_024452391.1:c.71A>G, XM_047442175.1:c.71A>G, XM_047442177.1:c.71A>G, XM_047442176.1:c.71A>G, XM_047442174.1:c.71A>G, XM_047442178.1:c.71A>G, XM_047442179.1:c.71A>G, XP_005274758.1:p.Glu24Gly, XP_011529483.1:p.Glu24Gly, XP_006724889.1:p.Glu24Gly, XP_005274759.1:p.Glu24Gly, XP_016885077.1:p.Glu24Gly, XP_016885080.1:p.Glu24Gly, XP_011529482.1:p.Glu24Gly, XP_016885082.1:p.Glu24Gly, XP_005274757.1:p.Glu24Gly, XP_016885081.1:p.Glu24Gly, XP_016885074.1:p.Glu24Gly, XP_005274756.1:p.Glu24Gly, XP_005274755.1:p.Glu24Gly, XP_016885078.1:p.Glu24Gly, NP_001013867.1:p.Glu24Gly, XP_024308159.1:p.Glu24Gly, XP_047298131.1:p.Glu24Gly, XP_047298133.1:p.Glu24Gly, XP_047298132.1:p.Glu24Gly, XP_047298130.1:p.Glu24Gly, XP_047298134.1:p.Glu24Gly, XP_047298135.1:p.Glu24Gly

                      11.

                      rs1398380184 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:149933751 (GRCh38)
                        X:149101969 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:149933750:G:A
                        Gene:
                        EOLA2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000005/1 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        A=0.000029/3 (GnomAD)
                        HGVS:
                        NC_000023.11:g.149933751G>A, NW_004070890.2:g.5458149G>A, NC_000023.10:g.149101969G>A, XM_005274701.4:c.124C>T, XM_005274701.3:c.124C>T, XM_005274701.2:c.124C>T, XM_005274701.1:c.124C>T, XM_011531181.4:c.124C>T, XM_011531181.3:c.124C>T, XM_011531181.2:c.124C>T, XM_011531181.1:c.124C>T, XM_006724826.4:c.124C>T, XM_006724826.3:c.124C>T, XM_006724826.2:c.124C>T, XM_006724826.1:c.124C>T, XM_005274702.4:c.124C>T, XM_005274702.3:c.124C>T, XM_005274702.2:c.124C>T, XM_005274702.1:c.124C>T, XM_017029588.3:c.124C>T, XM_017029588.2:c.124C>T, XM_017029588.1:c.124C>T, XM_017029591.3:c.124C>T, XM_017029591.2:c.124C>T, XM_017029591.1:c.124C>T, XM_011531180.3:c.124C>T, XM_011531180.2:c.124C>T, XM_011531180.1:c.124C>T, XM_017029593.3:c.124C>T, XM_017029593.2:c.124C>T, XM_017029593.1:c.124C>T, XM_005274700.3:c.124C>T, XM_005274700.2:c.124C>T, XM_005274700.1:c.124C>T, XM_017029592.3:c.124C>T, XM_017029592.2:c.124C>T, XM_017029592.1:c.124C>T, XM_017029585.3:c.124C>T, XM_017029585.2:c.124C>T, XM_017029585.1:c.124C>T, XM_005274699.3:c.124C>T, XM_005274699.2:c.124C>T, XM_005274699.1:c.124C>T, XM_005274698.3:c.124C>T, XM_005274698.2:c.124C>T, XM_005274698.1:c.124C>T, XM_017029589.2:c.124C>T, XM_017029589.1:c.124C>T, NM_001013845.2:c.124C>T, NM_001013845.1:c.124C>T, XM_024452391.2:c.124C>T, XM_024452391.1:c.124C>T, XM_047442175.1:c.124C>T, XM_047442177.1:c.124C>T, XM_047442176.1:c.124C>T, XM_047442174.1:c.124C>T, XM_047442178.1:c.124C>T, XM_047442179.1:c.124C>T, XP_005274758.1:p.His42Tyr, XP_011529483.1:p.His42Tyr, XP_006724889.1:p.His42Tyr, XP_005274759.1:p.His42Tyr, XP_016885077.1:p.His42Tyr, XP_016885080.1:p.His42Tyr, XP_011529482.1:p.His42Tyr, XP_016885082.1:p.His42Tyr, XP_005274757.1:p.His42Tyr, XP_016885081.1:p.His42Tyr, XP_016885074.1:p.His42Tyr, XP_005274756.1:p.His42Tyr, XP_005274755.1:p.His42Tyr, XP_016885078.1:p.His42Tyr, NP_001013867.1:p.His42Tyr, XP_024308159.1:p.His42Tyr, XP_047298131.1:p.His42Tyr, XP_047298133.1:p.His42Tyr, XP_047298132.1:p.His42Tyr, XP_047298130.1:p.His42Tyr, XP_047298134.1:p.His42Tyr, XP_047298135.1:p.His42Tyr

                        12.

                        rs1392019845 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:149932706 (GRCh38)
                          X:149100924 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:149932705:C:T
                          Gene:
                          EOLA2 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000011/2 (GnomAD_exomes)
                          T=0.00003/3 (GnomAD)
                          T=0.000045/12 (TOPMED)
                          HGVS:
                          NC_000023.11:g.149932706C>T, NW_004070890.2:g.5457104C>T, NC_000023.10:g.149100924C>T, XM_005274701.4:c.315G>A, XM_005274701.3:c.315G>A, XM_005274701.2:c.315G>A, XM_005274701.1:c.315G>A, XM_011531181.4:c.315G>A, XM_011531181.3:c.315G>A, XM_011531181.2:c.315G>A, XM_011531181.1:c.315G>A, XM_006724826.4:c.315G>A, XM_006724826.3:c.315G>A, XM_006724826.2:c.315G>A, XM_006724826.1:c.315G>A, XM_005274702.4:c.315G>A, XM_005274702.3:c.315G>A, XM_005274702.2:c.315G>A, XM_005274702.1:c.315G>A, XM_017029588.3:c.315G>A, XM_017029588.2:c.315G>A, XM_017029588.1:c.315G>A, XM_017029591.3:c.315G>A, XM_017029591.2:c.315G>A, XM_017029591.1:c.315G>A, XM_011531180.3:c.315G>A, XM_011531180.2:c.315G>A, XM_011531180.1:c.315G>A, XM_017029593.3:c.315G>A, XM_017029593.2:c.315G>A, XM_017029593.1:c.315G>A, XM_005274700.3:c.315G>A, XM_005274700.2:c.315G>A, XM_005274700.1:c.315G>A, XM_017029592.3:c.315G>A, XM_017029592.2:c.315G>A, XM_017029592.1:c.315G>A, XM_017029585.3:c.315G>A, XM_017029585.2:c.315G>A, XM_017029585.1:c.315G>A, XM_005274699.3:c.315G>A, XM_005274699.2:c.315G>A, XM_005274699.1:c.315G>A, XM_005274698.3:c.315G>A, XM_005274698.2:c.315G>A, XM_005274698.1:c.315G>A, XM_017029589.2:c.315G>A, XM_017029589.1:c.315G>A, NM_001013845.2:c.315G>A, NM_001013845.1:c.315G>A, XM_024452391.2:c.315G>A, XM_024452391.1:c.315G>A, XM_047442175.1:c.315G>A, XM_047442177.1:c.315G>A, XM_047442176.1:c.315G>A, XM_047442174.1:c.315G>A, XM_047442178.1:c.315G>A, XM_047442179.1:c.315G>A

                          13.

                          rs1391116487 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            X:149933805 (GRCh38)
                            X:149102023 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:149933804:C:G
                            Gene:
                            EOLA2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000023.11:g.149933805C>G, NW_004070890.2:g.5458203C>G, NC_000023.10:g.149102023C>G, XM_005274701.4:c.70G>C, XM_005274701.3:c.70G>C, XM_005274701.2:c.70G>C, XM_005274701.1:c.70G>C, XM_011531181.4:c.70G>C, XM_011531181.3:c.70G>C, XM_011531181.2:c.70G>C, XM_011531181.1:c.70G>C, XM_006724826.4:c.70G>C, XM_006724826.3:c.70G>C, XM_006724826.2:c.70G>C, XM_006724826.1:c.70G>C, XM_005274702.4:c.70G>C, XM_005274702.3:c.70G>C, XM_005274702.2:c.70G>C, XM_005274702.1:c.70G>C, XM_017029588.3:c.70G>C, XM_017029588.2:c.70G>C, XM_017029588.1:c.70G>C, XM_017029591.3:c.70G>C, XM_017029591.2:c.70G>C, XM_017029591.1:c.70G>C, XM_011531180.3:c.70G>C, XM_011531180.2:c.70G>C, XM_011531180.1:c.70G>C, XM_017029593.3:c.70G>C, XM_017029593.2:c.70G>C, XM_017029593.1:c.70G>C, XM_005274700.3:c.70G>C, XM_005274700.2:c.70G>C, XM_005274700.1:c.70G>C, XM_017029592.3:c.70G>C, XM_017029592.2:c.70G>C, XM_017029592.1:c.70G>C, XM_017029585.3:c.70G>C, XM_017029585.2:c.70G>C, XM_017029585.1:c.70G>C, XM_005274699.3:c.70G>C, XM_005274699.2:c.70G>C, XM_005274699.1:c.70G>C, XM_005274698.3:c.70G>C, XM_005274698.2:c.70G>C, XM_005274698.1:c.70G>C, XM_017029589.2:c.70G>C, XM_017029589.1:c.70G>C, NM_001013845.2:c.70G>C, NM_001013845.1:c.70G>C, XM_024452391.2:c.70G>C, XM_024452391.1:c.70G>C, XM_047442175.1:c.70G>C, XM_047442177.1:c.70G>C, XM_047442176.1:c.70G>C, XM_047442174.1:c.70G>C, XM_047442178.1:c.70G>C, XM_047442179.1:c.70G>C, XP_005274758.1:p.Glu24Gln, XP_011529483.1:p.Glu24Gln, XP_006724889.1:p.Glu24Gln, XP_005274759.1:p.Glu24Gln, XP_016885077.1:p.Glu24Gln, XP_016885080.1:p.Glu24Gln, XP_011529482.1:p.Glu24Gln, XP_016885082.1:p.Glu24Gln, XP_005274757.1:p.Glu24Gln, XP_016885081.1:p.Glu24Gln, XP_016885074.1:p.Glu24Gln, XP_005274756.1:p.Glu24Gln, XP_005274755.1:p.Glu24Gln, XP_016885078.1:p.Glu24Gln, NP_001013867.1:p.Glu24Gln, XP_024308159.1:p.Glu24Gln, XP_047298131.1:p.Glu24Gln, XP_047298133.1:p.Glu24Gln, XP_047298132.1:p.Glu24Gln, XP_047298130.1:p.Glu24Gln, XP_047298134.1:p.Glu24Gln, XP_047298135.1:p.Glu24Gln

                            14.

                            rs1368777170 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:149932720 (GRCh38)
                              X:149100938 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:149932719:G:A
                              Gene:
                              EOLA2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000023.11:g.149932720G>A, NW_004070890.2:g.5457118G>A, NC_000023.10:g.149100938G>A, XM_005274701.4:c.301C>T, XM_005274701.3:c.301C>T, XM_005274701.2:c.301C>T, XM_005274701.1:c.301C>T, XM_011531181.4:c.301C>T, XM_011531181.3:c.301C>T, XM_011531181.2:c.301C>T, XM_011531181.1:c.301C>T, XM_006724826.4:c.301C>T, XM_006724826.3:c.301C>T, XM_006724826.2:c.301C>T, XM_006724826.1:c.301C>T, XM_005274702.4:c.301C>T, XM_005274702.3:c.301C>T, XM_005274702.2:c.301C>T, XM_005274702.1:c.301C>T, XM_017029588.3:c.301C>T, XM_017029588.2:c.301C>T, XM_017029588.1:c.301C>T, XM_017029591.3:c.301C>T, XM_017029591.2:c.301C>T, XM_017029591.1:c.301C>T, XM_011531180.3:c.301C>T, XM_011531180.2:c.301C>T, XM_011531180.1:c.301C>T, XM_017029593.3:c.301C>T, XM_017029593.2:c.301C>T, XM_017029593.1:c.301C>T, XM_005274700.3:c.301C>T, XM_005274700.2:c.301C>T, XM_005274700.1:c.301C>T, XM_017029592.3:c.301C>T, XM_017029592.2:c.301C>T, XM_017029592.1:c.301C>T, XM_017029585.3:c.301C>T, XM_017029585.2:c.301C>T, XM_017029585.1:c.301C>T, XM_005274699.3:c.301C>T, XM_005274699.2:c.301C>T, XM_005274699.1:c.301C>T, XM_005274698.3:c.301C>T, XM_005274698.2:c.301C>T, XM_005274698.1:c.301C>T, XM_017029589.2:c.301C>T, XM_017029589.1:c.301C>T, NM_001013845.2:c.301C>T, NM_001013845.1:c.301C>T, XM_024452391.2:c.301C>T, XM_024452391.1:c.301C>T, XM_047442175.1:c.301C>T, XM_047442177.1:c.301C>T, XM_047442176.1:c.301C>T, XM_047442174.1:c.301C>T, XM_047442178.1:c.301C>T, XM_047442179.1:c.301C>T, XP_005274758.1:p.Pro101Ser, XP_011529483.1:p.Pro101Ser, XP_006724889.1:p.Pro101Ser, XP_005274759.1:p.Pro101Ser, XP_016885077.1:p.Pro101Ser, XP_016885080.1:p.Pro101Ser, XP_011529482.1:p.Pro101Ser, XP_016885082.1:p.Pro101Ser, XP_005274757.1:p.Pro101Ser, XP_016885081.1:p.Pro101Ser, XP_016885074.1:p.Pro101Ser, XP_005274756.1:p.Pro101Ser, XP_005274755.1:p.Pro101Ser, XP_016885078.1:p.Pro101Ser, NP_001013867.1:p.Pro101Ser, XP_024308159.1:p.Pro101Ser, XP_047298131.1:p.Pro101Ser, XP_047298133.1:p.Pro101Ser, XP_047298132.1:p.Pro101Ser, XP_047298130.1:p.Pro101Ser, XP_047298134.1:p.Pro101Ser, XP_047298135.1:p.Pro101Ser

                              15.

                              rs1366349074 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:149933628 (GRCh38)
                                X:149101846 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:149933627:T:C
                                Gene:
                                EOLA2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000023.11:g.149933628T>C, NW_004070890.2:g.5458026T>C, NC_000023.10:g.149101846T>C, XM_005274701.4:c.247A>G, XM_005274701.3:c.247A>G, XM_005274701.2:c.247A>G, XM_005274701.1:c.247A>G, XM_011531181.4:c.247A>G, XM_011531181.3:c.247A>G, XM_011531181.2:c.247A>G, XM_011531181.1:c.247A>G, XM_006724826.4:c.247A>G, XM_006724826.3:c.247A>G, XM_006724826.2:c.247A>G, XM_006724826.1:c.247A>G, XM_005274702.4:c.247A>G, XM_005274702.3:c.247A>G, XM_005274702.2:c.247A>G, XM_005274702.1:c.247A>G, XM_017029588.3:c.247A>G, XM_017029588.2:c.247A>G, XM_017029588.1:c.247A>G, XM_017029591.3:c.247A>G, XM_017029591.2:c.247A>G, XM_017029591.1:c.247A>G, XM_011531180.3:c.247A>G, XM_011531180.2:c.247A>G, XM_011531180.1:c.247A>G, XM_017029593.3:c.247A>G, XM_017029593.2:c.247A>G, XM_017029593.1:c.247A>G, XM_005274700.3:c.247A>G, XM_005274700.2:c.247A>G, XM_005274700.1:c.247A>G, XM_017029592.3:c.247A>G, XM_017029592.2:c.247A>G, XM_017029592.1:c.247A>G, XM_017029585.3:c.247A>G, XM_017029585.2:c.247A>G, XM_017029585.1:c.247A>G, XM_005274699.3:c.247A>G, XM_005274699.2:c.247A>G, XM_005274699.1:c.247A>G, XM_005274698.3:c.247A>G, XM_005274698.2:c.247A>G, XM_005274698.1:c.247A>G, XM_017029589.2:c.247A>G, XM_017029589.1:c.247A>G, NM_001013845.2:c.247A>G, NM_001013845.1:c.247A>G, XM_024452391.2:c.247A>G, XM_024452391.1:c.247A>G, XM_047442175.1:c.247A>G, XM_047442177.1:c.247A>G, XM_047442176.1:c.247A>G, XM_047442174.1:c.247A>G, XM_047442178.1:c.247A>G, XM_047442179.1:c.247A>G, XP_005274758.1:p.Ile83Val, XP_011529483.1:p.Ile83Val, XP_006724889.1:p.Ile83Val, XP_005274759.1:p.Ile83Val, XP_016885077.1:p.Ile83Val, XP_016885080.1:p.Ile83Val, XP_011529482.1:p.Ile83Val, XP_016885082.1:p.Ile83Val, XP_005274757.1:p.Ile83Val, XP_016885081.1:p.Ile83Val, XP_016885074.1:p.Ile83Val, XP_005274756.1:p.Ile83Val, XP_005274755.1:p.Ile83Val, XP_016885078.1:p.Ile83Val, NP_001013867.1:p.Ile83Val, XP_024308159.1:p.Ile83Val, XP_047298131.1:p.Ile83Val, XP_047298133.1:p.Ile83Val, XP_047298132.1:p.Ile83Val, XP_047298130.1:p.Ile83Val, XP_047298134.1:p.Ile83Val, XP_047298135.1:p.Ile83Val

                                16.

                                rs1343575206 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:149932663 (GRCh38)
                                  X:149100881 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:149932662:A:G
                                  Gene:
                                  EOLA2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000023.11:g.149932663A>G, NW_004070890.2:g.5457061A>G, NC_000023.10:g.149100881A>G, XM_005274701.4:c.358T>C, XM_005274701.3:c.358T>C, XM_005274701.2:c.358T>C, XM_005274701.1:c.358T>C, XM_011531181.4:c.358T>C, XM_011531181.3:c.358T>C, XM_011531181.2:c.358T>C, XM_011531181.1:c.358T>C, XM_006724826.4:c.358T>C, XM_006724826.3:c.358T>C, XM_006724826.2:c.358T>C, XM_006724826.1:c.358T>C, XM_005274702.4:c.358T>C, XM_005274702.3:c.358T>C, XM_005274702.2:c.358T>C, XM_005274702.1:c.358T>C, XM_017029588.3:c.358T>C, XM_017029588.2:c.358T>C, XM_017029588.1:c.358T>C, XM_017029591.3:c.358T>C, XM_017029591.2:c.358T>C, XM_017029591.1:c.358T>C, XM_011531180.3:c.358T>C, XM_011531180.2:c.358T>C, XM_011531180.1:c.358T>C, XM_017029593.3:c.358T>C, XM_017029593.2:c.358T>C, XM_017029593.1:c.358T>C, XM_005274700.3:c.358T>C, XM_005274700.2:c.358T>C, XM_005274700.1:c.358T>C, XM_017029592.3:c.358T>C, XM_017029592.2:c.358T>C, XM_017029592.1:c.358T>C, XM_017029585.3:c.358T>C, XM_017029585.2:c.358T>C, XM_017029585.1:c.358T>C, XM_005274699.3:c.358T>C, XM_005274699.2:c.358T>C, XM_005274699.1:c.358T>C, XM_005274698.3:c.358T>C, XM_005274698.2:c.358T>C, XM_005274698.1:c.358T>C, XM_017029589.2:c.358T>C, XM_017029589.1:c.358T>C, NM_001013845.2:c.358T>C, NM_001013845.1:c.358T>C, XM_024452391.2:c.358T>C, XM_024452391.1:c.358T>C, XM_047442175.1:c.358T>C, XM_047442177.1:c.358T>C, XM_047442176.1:c.358T>C, XM_047442174.1:c.358T>C, XM_047442178.1:c.358T>C, XM_047442179.1:c.358T>C, XP_005274758.1:p.Tyr120His, XP_011529483.1:p.Tyr120His, XP_006724889.1:p.Tyr120His, XP_005274759.1:p.Tyr120His, XP_016885077.1:p.Tyr120His, XP_016885080.1:p.Tyr120His, XP_011529482.1:p.Tyr120His, XP_016885082.1:p.Tyr120His, XP_005274757.1:p.Tyr120His, XP_016885081.1:p.Tyr120His, XP_016885074.1:p.Tyr120His, XP_005274756.1:p.Tyr120His, XP_005274755.1:p.Tyr120His, XP_016885078.1:p.Tyr120His, NP_001013867.1:p.Tyr120His, XP_024308159.1:p.Tyr120His, XP_047298131.1:p.Tyr120His, XP_047298133.1:p.Tyr120His, XP_047298132.1:p.Tyr120His, XP_047298130.1:p.Tyr120His, XP_047298134.1:p.Tyr120His, XP_047298135.1:p.Tyr120His

                                  17.

                                  rs1335131709 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:149932678 (GRCh38)
                                    X:149100896 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:149932677:T:C
                                    Gene:
                                    EOLA2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000005/1 (GnomAD_exomes)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000023.11:g.149932678T>C, NW_004070890.2:g.5457076T>C, NC_000023.10:g.149100896T>C, XM_005274701.4:c.343A>G, XM_005274701.3:c.343A>G, XM_005274701.2:c.343A>G, XM_005274701.1:c.343A>G, XM_011531181.4:c.343A>G, XM_011531181.3:c.343A>G, XM_011531181.2:c.343A>G, XM_011531181.1:c.343A>G, XM_006724826.4:c.343A>G, XM_006724826.3:c.343A>G, XM_006724826.2:c.343A>G, XM_006724826.1:c.343A>G, XM_005274702.4:c.343A>G, XM_005274702.3:c.343A>G, XM_005274702.2:c.343A>G, XM_005274702.1:c.343A>G, XM_017029588.3:c.343A>G, XM_017029588.2:c.343A>G, XM_017029588.1:c.343A>G, XM_017029591.3:c.343A>G, XM_017029591.2:c.343A>G, XM_017029591.1:c.343A>G, XM_011531180.3:c.343A>G, XM_011531180.2:c.343A>G, XM_011531180.1:c.343A>G, XM_017029593.3:c.343A>G, XM_017029593.2:c.343A>G, XM_017029593.1:c.343A>G, XM_005274700.3:c.343A>G, XM_005274700.2:c.343A>G, XM_005274700.1:c.343A>G, XM_017029592.3:c.343A>G, XM_017029592.2:c.343A>G, XM_017029592.1:c.343A>G, XM_017029585.3:c.343A>G, XM_017029585.2:c.343A>G, XM_017029585.1:c.343A>G, XM_005274699.3:c.343A>G, XM_005274699.2:c.343A>G, XM_005274699.1:c.343A>G, XM_005274698.3:c.343A>G, XM_005274698.2:c.343A>G, XM_005274698.1:c.343A>G, XM_017029589.2:c.343A>G, XM_017029589.1:c.343A>G, NM_001013845.2:c.343A>G, NM_001013845.1:c.343A>G, XM_024452391.2:c.343A>G, XM_024452391.1:c.343A>G, XM_047442175.1:c.343A>G, XM_047442177.1:c.343A>G, XM_047442176.1:c.343A>G, XM_047442174.1:c.343A>G, XM_047442178.1:c.343A>G, XM_047442179.1:c.343A>G, XP_005274758.1:p.Asn115Asp, XP_011529483.1:p.Asn115Asp, XP_006724889.1:p.Asn115Asp, XP_005274759.1:p.Asn115Asp, XP_016885077.1:p.Asn115Asp, XP_016885080.1:p.Asn115Asp, XP_011529482.1:p.Asn115Asp, XP_016885082.1:p.Asn115Asp, XP_005274757.1:p.Asn115Asp, XP_016885081.1:p.Asn115Asp, XP_016885074.1:p.Asn115Asp, XP_005274756.1:p.Asn115Asp, XP_005274755.1:p.Asn115Asp, XP_016885078.1:p.Asn115Asp, NP_001013867.1:p.Asn115Asp, XP_024308159.1:p.Asn115Asp, XP_047298131.1:p.Asn115Asp, XP_047298133.1:p.Asn115Asp, XP_047298132.1:p.Asn115Asp, XP_047298130.1:p.Asn115Asp, XP_047298134.1:p.Asn115Asp, XP_047298135.1:p.Asn115Asp

                                    18.

                                    rs1326143348 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:149933725 (GRCh38)
                                      X:149101943 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:149933724:G:A
                                      Gene:
                                      EOLA2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00001/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000023.11:g.149933725G>A, NW_004070890.2:g.5458123G>A, NC_000023.10:g.149101943G>A, XM_005274701.4:c.150C>T, XM_005274701.3:c.150C>T, XM_005274701.2:c.150C>T, XM_005274701.1:c.150C>T, XM_011531181.4:c.150C>T, XM_011531181.3:c.150C>T, XM_011531181.2:c.150C>T, XM_011531181.1:c.150C>T, XM_006724826.4:c.150C>T, XM_006724826.3:c.150C>T, XM_006724826.2:c.150C>T, XM_006724826.1:c.150C>T, XM_005274702.4:c.150C>T, XM_005274702.3:c.150C>T, XM_005274702.2:c.150C>T, XM_005274702.1:c.150C>T, XM_017029588.3:c.150C>T, XM_017029588.2:c.150C>T, XM_017029588.1:c.150C>T, XM_017029591.3:c.150C>T, XM_017029591.2:c.150C>T, XM_017029591.1:c.150C>T, XM_011531180.3:c.150C>T, XM_011531180.2:c.150C>T, XM_011531180.1:c.150C>T, XM_017029593.3:c.150C>T, XM_017029593.2:c.150C>T, XM_017029593.1:c.150C>T, XM_005274700.3:c.150C>T, XM_005274700.2:c.150C>T, XM_005274700.1:c.150C>T, XM_017029592.3:c.150C>T, XM_017029592.2:c.150C>T, XM_017029592.1:c.150C>T, XM_017029585.3:c.150C>T, XM_017029585.2:c.150C>T, XM_017029585.1:c.150C>T, XM_005274699.3:c.150C>T, XM_005274699.2:c.150C>T, XM_005274699.1:c.150C>T, XM_005274698.3:c.150C>T, XM_005274698.2:c.150C>T, XM_005274698.1:c.150C>T, XM_017029589.2:c.150C>T, XM_017029589.1:c.150C>T, NM_001013845.2:c.150C>T, NM_001013845.1:c.150C>T, XM_024452391.2:c.150C>T, XM_024452391.1:c.150C>T, XM_047442175.1:c.150C>T, XM_047442177.1:c.150C>T, XM_047442176.1:c.150C>T, XM_047442174.1:c.150C>T, XM_047442178.1:c.150C>T, XM_047442179.1:c.150C>T

                                      19.

                                      rs1312289896 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        X:149932696 (GRCh38)
                                        X:149100914 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:149932695:T:C
                                        Gene:
                                        EOLA2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.00001/1 (GnomAD)
                                        HGVS:
                                        NC_000023.11:g.149932696T>C, NW_004070890.2:g.5457094T>C, NC_000023.10:g.149100914T>C, XM_005274701.4:c.325A>G, XM_005274701.3:c.325A>G, XM_005274701.2:c.325A>G, XM_005274701.1:c.325A>G, XM_011531181.4:c.325A>G, XM_011531181.3:c.325A>G, XM_011531181.2:c.325A>G, XM_011531181.1:c.325A>G, XM_006724826.4:c.325A>G, XM_006724826.3:c.325A>G, XM_006724826.2:c.325A>G, XM_006724826.1:c.325A>G, XM_005274702.4:c.325A>G, XM_005274702.3:c.325A>G, XM_005274702.2:c.325A>G, XM_005274702.1:c.325A>G, XM_017029588.3:c.325A>G, XM_017029588.2:c.325A>G, XM_017029588.1:c.325A>G, XM_017029591.3:c.325A>G, XM_017029591.2:c.325A>G, XM_017029591.1:c.325A>G, XM_011531180.3:c.325A>G, XM_011531180.2:c.325A>G, XM_011531180.1:c.325A>G, XM_017029593.3:c.325A>G, XM_017029593.2:c.325A>G, XM_017029593.1:c.325A>G, XM_005274700.3:c.325A>G, XM_005274700.2:c.325A>G, XM_005274700.1:c.325A>G, XM_017029592.3:c.325A>G, XM_017029592.2:c.325A>G, XM_017029592.1:c.325A>G, XM_017029585.3:c.325A>G, XM_017029585.2:c.325A>G, XM_017029585.1:c.325A>G, XM_005274699.3:c.325A>G, XM_005274699.2:c.325A>G, XM_005274699.1:c.325A>G, XM_005274698.3:c.325A>G, XM_005274698.2:c.325A>G, XM_005274698.1:c.325A>G, XM_017029589.2:c.325A>G, XM_017029589.1:c.325A>G, NM_001013845.2:c.325A>G, NM_001013845.1:c.325A>G, XM_024452391.2:c.325A>G, XM_024452391.1:c.325A>G, XM_047442175.1:c.325A>G, XM_047442177.1:c.325A>G, XM_047442176.1:c.325A>G, XM_047442174.1:c.325A>G, XM_047442178.1:c.325A>G, XM_047442179.1:c.325A>G, XP_005274758.1:p.Asn109Asp, XP_011529483.1:p.Asn109Asp, XP_006724889.1:p.Asn109Asp, XP_005274759.1:p.Asn109Asp, XP_016885077.1:p.Asn109Asp, XP_016885080.1:p.Asn109Asp, XP_011529482.1:p.Asn109Asp, XP_016885082.1:p.Asn109Asp, XP_005274757.1:p.Asn109Asp, XP_016885081.1:p.Asn109Asp, XP_016885074.1:p.Asn109Asp, XP_005274756.1:p.Asn109Asp, XP_005274755.1:p.Asn109Asp, XP_016885078.1:p.Asn109Asp, NP_001013867.1:p.Asn109Asp, XP_024308159.1:p.Asn109Asp, XP_047298131.1:p.Asn109Asp, XP_047298133.1:p.Asn109Asp, XP_047298132.1:p.Asn109Asp, XP_047298130.1:p.Asn109Asp, XP_047298134.1:p.Asn109Asp, XP_047298135.1:p.Asn109Asp

                                        20.

                                        rs1303561364 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          X:149933645 (GRCh38)
                                          X:149101863 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:149933644:T:A
                                          Gene:
                                          EOLA2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000015/4 (TOPMED)
                                          A=0.00005/5 (GnomAD)
                                          HGVS:
                                          NC_000023.11:g.149933645T>A, NW_004070890.2:g.5458043T>A, NC_000023.10:g.149101863T>A, XM_005274701.4:c.230A>T, XM_005274701.3:c.230A>T, XM_005274701.2:c.230A>T, XM_005274701.1:c.230A>T, XM_011531181.4:c.230A>T, XM_011531181.3:c.230A>T, XM_011531181.2:c.230A>T, XM_011531181.1:c.230A>T, XM_006724826.4:c.230A>T, XM_006724826.3:c.230A>T, XM_006724826.2:c.230A>T, XM_006724826.1:c.230A>T, XM_005274702.4:c.230A>T, XM_005274702.3:c.230A>T, XM_005274702.2:c.230A>T, XM_005274702.1:c.230A>T, XM_017029588.3:c.230A>T, XM_017029588.2:c.230A>T, XM_017029588.1:c.230A>T, XM_017029591.3:c.230A>T, XM_017029591.2:c.230A>T, XM_017029591.1:c.230A>T, XM_011531180.3:c.230A>T, XM_011531180.2:c.230A>T, XM_011531180.1:c.230A>T, XM_017029593.3:c.230A>T, XM_017029593.2:c.230A>T, XM_017029593.1:c.230A>T, XM_005274700.3:c.230A>T, XM_005274700.2:c.230A>T, XM_005274700.1:c.230A>T, XM_017029592.3:c.230A>T, XM_017029592.2:c.230A>T, XM_017029592.1:c.230A>T, XM_017029585.3:c.230A>T, XM_017029585.2:c.230A>T, XM_017029585.1:c.230A>T, XM_005274699.3:c.230A>T, XM_005274699.2:c.230A>T, XM_005274699.1:c.230A>T, XM_005274698.3:c.230A>T, XM_005274698.2:c.230A>T, XM_005274698.1:c.230A>T, XM_017029589.2:c.230A>T, XM_017029589.1:c.230A>T, NM_001013845.2:c.230A>T, NM_001013845.1:c.230A>T, XM_024452391.2:c.230A>T, XM_024452391.1:c.230A>T, XM_047442175.1:c.230A>T, XM_047442177.1:c.230A>T, XM_047442176.1:c.230A>T, XM_047442174.1:c.230A>T, XM_047442178.1:c.230A>T, XM_047442179.1:c.230A>T, XP_005274758.1:p.Lys77Met, XP_011529483.1:p.Lys77Met, XP_006724889.1:p.Lys77Met, XP_005274759.1:p.Lys77Met, XP_016885077.1:p.Lys77Met, XP_016885080.1:p.Lys77Met, XP_011529482.1:p.Lys77Met, XP_016885082.1:p.Lys77Met, XP_005274757.1:p.Lys77Met, XP_016885081.1:p.Lys77Met, XP_016885074.1:p.Lys77Met, XP_005274756.1:p.Lys77Met, XP_005274755.1:p.Lys77Met, XP_016885078.1:p.Lys77Met, NP_001013867.1:p.Lys77Met, XP_024308159.1:p.Lys77Met, XP_047298131.1:p.Lys77Met, XP_047298133.1:p.Lys77Met, XP_047298132.1:p.Lys77Met, XP_047298130.1:p.Lys77Met, XP_047298134.1:p.Lys77Met, XP_047298135.1:p.Lys77Met

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