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Items: 1 to 20 of 144

1.

rs1489951466 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:134789227 (GRCh38)
    X:133923257 (GRCh37)
    Canonical SPDI:
    NC_000023.11:134789226:C:T
    Gene:
    PABIR2 (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)
    T=0.00001/1 (GnomAD)
    HGVS:
    NC_000023.11:g.134789227C>T, NC_000023.10:g.133923257C>T, NG_016348.1:g.13006G>A, NM_145284.5:c.217G>A, NM_001166599.3:c.217G>A, NM_001166599.2:c.217G>A, NM_001166600.3:c.274G>A, NM_001166600.2:c.274G>A, NM_001170757.2:c.115G>A, NM_001170757.1:c.115G>A, NM_001387468.1:c.274G>A, NM_001331088.1:c.286G>A, NM_001331089.1:c.286G>A, NM_001170756.1:c.274G>A, NM_001387469.1:c.286G>A, NM_001331092.1:c.274G>A, NM_001331090.1:c.229G>A, NM_001331091.1:c.229G>A, NM_001331094.1:c.217G>A, NM_001331093.1:c.217G>A, XM_011531282.3:c.286G>A, XM_011531282.2:c.286G>A, XM_011531282.1:c.286G>A, XM_011531283.3:c.286G>A, XM_011531283.2:c.286G>A, XM_011531283.1:c.286G>A, XM_011531284.3:c.274G>A, XM_011531284.2:c.274G>A, XM_011531284.1:c.274G>A, XM_011531285.3:c.274G>A, XM_011531285.2:c.274G>A, XM_011531285.1:c.274G>A, XM_011531286.3:c.229G>A, XM_011531286.2:c.229G>A, XM_011531286.1:c.229G>A, XM_011531288.3:c.217G>A, XM_011531288.2:c.217G>A, XM_011531288.1:c.217G>A, XM_011531290.3:c.217G>A, XM_011531290.2:c.217G>A, XM_011531290.1:c.217G>A, XM_011531292.3:c.286G>A, XM_011531292.2:c.286G>A, XM_011531292.1:c.286G>A, XM_047441874.1:c.229G>A, XM_047441875.1:c.229G>A, XM_047441873.1:c.229G>A, XM_047441876.1:c.274G>A, NP_660327.2:p.Glu73Lys, NP_001160071.1:p.Glu73Lys, NP_001160072.1:p.Glu92Lys, NP_001164228.1:p.Glu39Lys, NP_001374397.1:p.Glu92Lys, NP_001318017.1:p.Glu96Lys, NP_001318018.1:p.Glu96Lys, NP_001164227.1:p.Glu92Lys, NP_001374398.1:p.Glu96Lys, NP_001318021.1:p.Glu92Lys, NP_001318019.1:p.Glu77Lys, NP_001318020.1:p.Glu77Lys, NP_001318023.1:p.Glu73Lys, NP_001318022.1:p.Glu73Lys, XP_011529584.1:p.Glu96Lys, XP_011529585.1:p.Glu96Lys, XP_011529586.1:p.Glu92Lys, XP_011529587.1:p.Glu92Lys, XP_011529588.1:p.Glu77Lys, XP_011529590.1:p.Glu73Lys, XP_011529592.1:p.Glu73Lys, XP_011529594.1:p.Glu96Lys, XP_047297830.1:p.Glu77Lys, XP_047297831.1:p.Glu77Lys, XP_047297829.1:p.Glu77Lys, XP_047297832.1:p.Glu92Lys

    2.

    rs1485986928 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      X:134772259 (GRCh38)
      X:133906289 (GRCh37)
      Canonical SPDI:
      NC_000023.11:134772258:A:G
      Gene:
      PABIR2 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000006/1 (GnomAD_exomes)
      HGVS:
      NC_000023.11:g.134772259A>G, NC_000023.10:g.133906289A>G, NG_016348.1:g.29974T>C, NM_145284.5:c.627T>C, NM_001166599.3:c.624T>C, NM_001166599.2:c.624T>C, NM_001387468.1:c.684T>C, NM_001331088.1:c.696T>C, NM_001331089.1:c.693T>C, NM_001170756.1:c.681T>C, XM_011531282.3:c.696T>C, XM_011531282.2:c.696T>C, XM_011531282.1:c.696T>C, XM_011531283.3:c.693T>C, XM_011531283.2:c.693T>C, XM_011531283.1:c.693T>C, XM_011531284.3:c.684T>C, XM_011531284.2:c.684T>C, XM_011531284.1:c.684T>C, XM_011531285.3:c.681T>C, XM_011531285.2:c.681T>C, XM_011531285.1:c.681T>C, XM_011531286.3:c.639T>C, XM_011531286.2:c.639T>C, XM_011531286.1:c.639T>C, XM_011531288.3:c.627T>C, XM_011531288.2:c.627T>C, XM_011531288.1:c.627T>C, XM_011531290.3:c.624T>C, XM_011531290.2:c.624T>C, XM_011531290.1:c.624T>C, XM_047441874.1:c.639T>C, XM_047441875.1:c.636T>C, XM_047441873.1:c.636T>C

      3.

      rs1483888603 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        X:134793823 (GRCh38)
        X:133927853 (GRCh37)
        Canonical SPDI:
        NC_000023.11:134793822:G:A
        Gene:
        PABIR2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000023.11:g.134793823G>A, NC_000023.10:g.133927853G>A, NG_016383.1:g.2411G>A, NG_016348.1:g.8410C>T, NM_145284.5:c.169C>T, NM_001166599.3:c.169C>T, NM_001166599.2:c.169C>T, NM_001166600.3:c.169C>T, NM_001166600.2:c.169C>T, NM_001170757.2:c.10C>T, NM_001170757.1:c.10C>T, NM_001387468.1:c.169C>T, NM_001331088.1:c.169C>T, NM_001331089.1:c.169C>T, NM_001170756.1:c.169C>T, NM_001387469.1:c.169C>T, NM_001331092.1:c.169C>T, NM_001331090.1:c.169C>T, NM_001331091.1:c.169C>T, NM_001331094.1:c.169C>T, NM_001331093.1:c.169C>T, XM_011531282.3:c.169C>T, XM_011531282.2:c.169C>T, XM_011531282.1:c.169C>T, XM_011531283.3:c.169C>T, XM_011531283.2:c.169C>T, XM_011531283.1:c.169C>T, XM_011531284.3:c.169C>T, XM_011531284.2:c.169C>T, XM_011531284.1:c.169C>T, XM_011531285.3:c.169C>T, XM_011531285.2:c.169C>T, XM_011531285.1:c.169C>T, XM_011531286.3:c.169C>T, XM_011531286.2:c.169C>T, XM_011531286.1:c.169C>T, XM_011531288.3:c.169C>T, XM_011531288.2:c.169C>T, XM_011531288.1:c.169C>T, XM_011531290.3:c.169C>T, XM_011531290.2:c.169C>T, XM_011531290.1:c.169C>T, XM_011531292.3:c.169C>T, XM_011531292.2:c.169C>T, XM_011531292.1:c.169C>T, XM_047441874.1:c.169C>T, XM_047441875.1:c.169C>T, XM_047441873.1:c.169C>T, XM_047441876.1:c.169C>T, NP_660327.2:p.His57Tyr, NP_001160071.1:p.His57Tyr, NP_001160072.1:p.His57Tyr, NP_001164228.1:p.His4Tyr, NP_001374397.1:p.His57Tyr, NP_001318017.1:p.His57Tyr, NP_001318018.1:p.His57Tyr, NP_001164227.1:p.His57Tyr, NP_001374398.1:p.His57Tyr, NP_001318021.1:p.His57Tyr, NP_001318019.1:p.His57Tyr, NP_001318020.1:p.His57Tyr, NP_001318023.1:p.His57Tyr, NP_001318022.1:p.His57Tyr, XP_011529584.1:p.His57Tyr, XP_011529585.1:p.His57Tyr, XP_011529586.1:p.His57Tyr, XP_011529587.1:p.His57Tyr, XP_011529588.1:p.His57Tyr, XP_011529590.1:p.His57Tyr, XP_011529592.1:p.His57Tyr, XP_011529594.1:p.His57Tyr, XP_047297830.1:p.His57Tyr, XP_047297831.1:p.His57Tyr, XP_047297829.1:p.His57Tyr, XP_047297832.1:p.His57Tyr

        4.

        rs1473805228 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:134772198 (GRCh38)
          X:133906228 (GRCh37)
          Canonical SPDI:
          NC_000023.11:134772197:C:T
          Gene:
          PABIR2 (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000023.11:g.134772198C>T, NC_000023.10:g.133906228C>T, NG_016348.1:g.30035G>A, NM_145284.5:c.688G>A, NM_001166599.3:c.685G>A, NM_001166599.2:c.685G>A, NM_001387468.1:c.745G>A, NM_001331088.1:c.757G>A, NM_001331089.1:c.754G>A, NM_001170756.1:c.742G>A, XM_011531282.3:c.757G>A, XM_011531282.2:c.757G>A, XM_011531282.1:c.757G>A, XM_011531283.3:c.754G>A, XM_011531283.2:c.754G>A, XM_011531283.1:c.754G>A, XM_011531284.3:c.745G>A, XM_011531284.2:c.745G>A, XM_011531284.1:c.745G>A, XM_011531285.3:c.742G>A, XM_011531285.2:c.742G>A, XM_011531285.1:c.742G>A, XM_011531286.3:c.700G>A, XM_011531286.2:c.700G>A, XM_011531286.1:c.700G>A, XM_011531288.3:c.688G>A, XM_011531288.2:c.688G>A, XM_011531288.1:c.688G>A, XM_011531290.3:c.685G>A, XM_011531290.2:c.685G>A, XM_011531290.1:c.685G>A, XM_047441874.1:c.700G>A, XM_047441875.1:c.697G>A, XM_047441873.1:c.697G>A, NP_660327.2:p.Val230Ile, NP_001160071.1:p.Val229Ile, NP_001374397.1:p.Val249Ile, NP_001318017.1:p.Val253Ile, NP_001318018.1:p.Val252Ile, NP_001164227.1:p.Val248Ile, XP_011529584.1:p.Val253Ile, XP_011529585.1:p.Val252Ile, XP_011529586.1:p.Val249Ile, XP_011529587.1:p.Val248Ile, XP_011529588.1:p.Val234Ile, XP_011529590.1:p.Val230Ile, XP_011529592.1:p.Val229Ile, XP_047297830.1:p.Val234Ile, XP_047297831.1:p.Val233Ile, XP_047297829.1:p.Val233Ile

          5.

          rs1469531770 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            X:134781857 (GRCh38)
            X:133915887 (GRCh37)
            Canonical SPDI:
            NC_000023.11:134781856:G:C
            Gene:
            PABIR2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000006/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.134781857G>C, NC_000023.10:g.133915887G>C, NG_016348.1:g.20376C>G, NM_145284.5:c.566C>G, NM_001166599.3:c.563C>G, NM_001166599.2:c.563C>G, NM_001166600.3:c.620C>G, NM_001166600.2:c.620C>G, NM_001170757.2:c.464C>G, NM_001170757.1:c.464C>G, NM_001387468.1:c.623C>G, NM_001331088.1:c.635C>G, NM_001331089.1:c.632C>G, NM_001170756.1:c.620C>G, NM_001387469.1:c.635C>G, NM_001331092.1:c.623C>G, NM_001331090.1:c.578C>G, NM_001331091.1:c.575C>G, NM_001331094.1:c.566C>G, NM_001331093.1:c.563C>G, XM_011531282.3:c.635C>G, XM_011531282.2:c.635C>G, XM_011531282.1:c.635C>G, XM_011531283.3:c.632C>G, XM_011531283.2:c.632C>G, XM_011531283.1:c.632C>G, XM_011531284.3:c.623C>G, XM_011531284.2:c.623C>G, XM_011531284.1:c.623C>G, XM_011531285.3:c.620C>G, XM_011531285.2:c.620C>G, XM_011531285.1:c.620C>G, XM_011531286.3:c.578C>G, XM_011531286.2:c.578C>G, XM_011531286.1:c.578C>G, XM_011531288.3:c.566C>G, XM_011531288.2:c.566C>G, XM_011531288.1:c.566C>G, XM_011531290.3:c.563C>G, XM_011531290.2:c.563C>G, XM_011531290.1:c.563C>G, XM_011531292.3:c.632C>G, XM_011531292.2:c.632C>G, XM_011531292.1:c.632C>G, XM_047441874.1:c.578C>G, XM_047441875.1:c.575C>G, XM_047441873.1:c.575C>G, XM_047441876.1:c.620C>G, NP_660327.2:p.Ser189Cys, NP_001160071.1:p.Ser188Cys, NP_001160072.1:p.Ser207Cys, NP_001164228.1:p.Ser155Cys, NP_001374397.1:p.Ser208Cys, NP_001318017.1:p.Ser212Cys, NP_001318018.1:p.Ser211Cys, NP_001164227.1:p.Ser207Cys, NP_001374398.1:p.Ser212Cys, NP_001318021.1:p.Ser208Cys, NP_001318019.1:p.Ser193Cys, NP_001318020.1:p.Ser192Cys, NP_001318023.1:p.Ser189Cys, NP_001318022.1:p.Ser188Cys, XP_011529584.1:p.Ser212Cys, XP_011529585.1:p.Ser211Cys, XP_011529586.1:p.Ser208Cys, XP_011529587.1:p.Ser207Cys, XP_011529588.1:p.Ser193Cys, XP_011529590.1:p.Ser189Cys, XP_011529592.1:p.Ser188Cys, XP_011529594.1:p.Ser211Cys, XP_047297830.1:p.Ser193Cys, XP_047297831.1:p.Ser192Cys, XP_047297829.1:p.Ser192Cys, XP_047297832.1:p.Ser207Cys

            6.

            rs1460630518 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              X:134796199 (GRCh38)
              X:133930229 (GRCh37)
              Canonical SPDI:
              NC_000023.11:134796198:G:C
              Gene:
              PABIR2 (Varview), PABIR3 (Varview)
              Functional Consequence:
              missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000023.11:g.134796199G>C, NC_000023.10:g.133930229G>C, NG_016383.1:g.4787G>C, NG_016348.1:g.6034C>G, NM_145284.5:c.7C>G, NM_001166599.3:c.7C>G, NM_001166599.2:c.7C>G, NM_001166600.3:c.7C>G, NM_001166600.2:c.7C>G, NM_001387468.1:c.7C>G, NM_001331088.1:c.7C>G, NM_001331089.1:c.7C>G, NM_001170756.1:c.7C>G, NM_001387469.1:c.7C>G, NM_001331092.1:c.7C>G, NM_001331090.1:c.7C>G, NM_001331091.1:c.7C>G, NM_001331094.1:c.7C>G, NM_001331093.1:c.7C>G, XM_011531282.3:c.7C>G, XM_011531282.2:c.7C>G, XM_011531282.1:c.7C>G, XM_011531283.3:c.7C>G, XM_011531283.2:c.7C>G, XM_011531283.1:c.7C>G, XM_011531284.3:c.7C>G, XM_011531284.2:c.7C>G, XM_011531284.1:c.7C>G, XM_011531285.3:c.7C>G, XM_011531285.2:c.7C>G, XM_011531285.1:c.7C>G, XM_011531286.3:c.7C>G, XM_011531286.2:c.7C>G, XM_011531286.1:c.7C>G, XM_011531288.3:c.7C>G, XM_011531288.2:c.7C>G, XM_011531288.1:c.7C>G, XM_011531290.3:c.7C>G, XM_011531290.2:c.7C>G, XM_011531290.1:c.7C>G, XM_011531292.3:c.7C>G, XM_011531292.2:c.7C>G, XM_011531292.1:c.7C>G, XM_047441874.1:c.7C>G, XM_047441875.1:c.7C>G, XM_047441873.1:c.7C>G, XM_047441876.1:c.7C>G, NP_660327.2:p.Gln3Glu, NP_001160071.1:p.Gln3Glu, NP_001160072.1:p.Gln3Glu, NP_001374397.1:p.Gln3Glu, NP_001318017.1:p.Gln3Glu, NP_001318018.1:p.Gln3Glu, NP_001164227.1:p.Gln3Glu, NP_001374398.1:p.Gln3Glu, NP_001318021.1:p.Gln3Glu, NP_001318019.1:p.Gln3Glu, NP_001318020.1:p.Gln3Glu, NP_001318023.1:p.Gln3Glu, NP_001318022.1:p.Gln3Glu, XP_011529584.1:p.Gln3Glu, XP_011529585.1:p.Gln3Glu, XP_011529586.1:p.Gln3Glu, XP_011529587.1:p.Gln3Glu, XP_011529588.1:p.Gln3Glu, XP_011529590.1:p.Gln3Glu, XP_011529592.1:p.Gln3Glu, XP_011529594.1:p.Gln3Glu, XP_047297830.1:p.Gln3Glu, XP_047297831.1:p.Gln3Glu, XP_047297829.1:p.Gln3Glu, XP_047297832.1:p.Gln3Glu

              7.

              rs1447757681 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                X:134793858 (GRCh38)
                X:133927888 (GRCh37)
                Canonical SPDI:
                NC_000023.11:134793857:C:G
                Gene:
                PABIR2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,splice_acceptor_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000023.11:g.134793858C>G, NC_000023.10:g.133927888C>G, NG_016383.1:g.2446C>G, NG_016348.1:g.8375G>C, NM_145284.5:c.134G>C, NM_001166599.3:c.134G>C, NM_001166599.2:c.134G>C, NM_001166600.3:c.134G>C, NM_001166600.2:c.134G>C, NM_001387468.1:c.134G>C, NM_001331088.1:c.134G>C, NM_001331089.1:c.134G>C, NM_001170756.1:c.134G>C, NM_001387469.1:c.134G>C, NM_001331092.1:c.134G>C, NM_001331090.1:c.134G>C, NM_001331091.1:c.134G>C, NM_001331094.1:c.134G>C, NM_001331093.1:c.134G>C, XM_011531282.3:c.134G>C, XM_011531282.2:c.134G>C, XM_011531282.1:c.134G>C, XM_011531283.3:c.134G>C, XM_011531283.2:c.134G>C, XM_011531283.1:c.134G>C, XM_011531284.3:c.134G>C, XM_011531284.2:c.134G>C, XM_011531284.1:c.134G>C, XM_011531285.3:c.134G>C, XM_011531285.2:c.134G>C, XM_011531285.1:c.134G>C, XM_011531286.3:c.134G>C, XM_011531286.2:c.134G>C, XM_011531286.1:c.134G>C, XM_011531288.3:c.134G>C, XM_011531288.2:c.134G>C, XM_011531288.1:c.134G>C, XM_011531290.3:c.134G>C, XM_011531290.2:c.134G>C, XM_011531290.1:c.134G>C, XM_011531292.3:c.134G>C, XM_011531292.2:c.134G>C, XM_011531292.1:c.134G>C, XM_047441874.1:c.134G>C, XM_047441875.1:c.134G>C, XM_047441873.1:c.134G>C, XM_047441876.1:c.134G>C, NP_660327.2:p.Arg45Thr, NP_001160071.1:p.Arg45Thr, NP_001160072.1:p.Arg45Thr, NP_001374397.1:p.Arg45Thr, NP_001318017.1:p.Arg45Thr, NP_001318018.1:p.Arg45Thr, NP_001164227.1:p.Arg45Thr, NP_001374398.1:p.Arg45Thr, NP_001318021.1:p.Arg45Thr, NP_001318019.1:p.Arg45Thr, NP_001318020.1:p.Arg45Thr, NP_001318023.1:p.Arg45Thr, NP_001318022.1:p.Arg45Thr, XP_011529584.1:p.Arg45Thr, XP_011529585.1:p.Arg45Thr, XP_011529586.1:p.Arg45Thr, XP_011529587.1:p.Arg45Thr, XP_011529588.1:p.Arg45Thr, XP_011529590.1:p.Arg45Thr, XP_011529592.1:p.Arg45Thr, XP_011529594.1:p.Arg45Thr, XP_047297830.1:p.Arg45Thr, XP_047297831.1:p.Arg45Thr, XP_047297829.1:p.Arg45Thr, XP_047297832.1:p.Arg45Thr

                8.

                rs1443482183 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:134772185 (GRCh38)
                  X:133906215 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:134772184:T:C
                  Gene:
                  PABIR2 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000006/1 (GnomAD_exomes)
                  HGVS:
                  NC_000023.11:g.134772185T>C, NC_000023.10:g.133906215T>C, NG_016348.1:g.30048A>G, NM_145284.5:c.701A>G, NM_001166599.3:c.698A>G, NM_001166599.2:c.698A>G, NM_001387468.1:c.758A>G, NM_001331088.1:c.770A>G, NM_001331089.1:c.767A>G, NM_001170756.1:c.755A>G, XM_011531282.3:c.770A>G, XM_011531282.2:c.770A>G, XM_011531282.1:c.770A>G, XM_011531283.3:c.767A>G, XM_011531283.2:c.767A>G, XM_011531283.1:c.767A>G, XM_011531284.3:c.758A>G, XM_011531284.2:c.758A>G, XM_011531284.1:c.758A>G, XM_011531285.3:c.755A>G, XM_011531285.2:c.755A>G, XM_011531285.1:c.755A>G, XM_011531286.3:c.713A>G, XM_011531286.2:c.713A>G, XM_011531286.1:c.713A>G, XM_011531288.3:c.701A>G, XM_011531288.2:c.701A>G, XM_011531288.1:c.701A>G, XM_011531290.3:c.698A>G, XM_011531290.2:c.698A>G, XM_011531290.1:c.698A>G, XM_047441874.1:c.713A>G, XM_047441875.1:c.710A>G, XM_047441873.1:c.710A>G, NP_660327.2:p.Asn234Ser, NP_001160071.1:p.Asn233Ser, NP_001374397.1:p.Asn253Ser, NP_001318017.1:p.Asn257Ser, NP_001318018.1:p.Asn256Ser, NP_001164227.1:p.Asn252Ser, XP_011529584.1:p.Asn257Ser, XP_011529585.1:p.Asn256Ser, XP_011529586.1:p.Asn253Ser, XP_011529587.1:p.Asn252Ser, XP_011529588.1:p.Asn238Ser, XP_011529590.1:p.Asn234Ser, XP_011529592.1:p.Asn233Ser, XP_047297830.1:p.Asn238Ser, XP_047297831.1:p.Asn237Ser, XP_047297829.1:p.Asn237Ser

                  9.

                  rs1440124995 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:134781861 (GRCh38)
                    X:133915891 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:134781860:A:G
                    Gene:
                    PABIR2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000006/1 (GnomAD_exomes)
                    HGVS:
                    NC_000023.11:g.134781861A>G, NC_000023.10:g.133915891A>G, NG_016348.1:g.20372T>C, NM_145284.5:c.562T>C, NM_001166599.3:c.559T>C, NM_001166599.2:c.559T>C, NM_001166600.3:c.616T>C, NM_001166600.2:c.616T>C, NM_001170757.2:c.460T>C, NM_001170757.1:c.460T>C, NM_001387468.1:c.619T>C, NM_001331088.1:c.631T>C, NM_001331089.1:c.628T>C, NM_001170756.1:c.616T>C, NM_001387469.1:c.631T>C, NM_001331092.1:c.619T>C, NM_001331090.1:c.574T>C, NM_001331091.1:c.571T>C, NM_001331094.1:c.562T>C, NM_001331093.1:c.559T>C, XM_011531282.3:c.631T>C, XM_011531282.2:c.631T>C, XM_011531282.1:c.631T>C, XM_011531283.3:c.628T>C, XM_011531283.2:c.628T>C, XM_011531283.1:c.628T>C, XM_011531284.3:c.619T>C, XM_011531284.2:c.619T>C, XM_011531284.1:c.619T>C, XM_011531285.3:c.616T>C, XM_011531285.2:c.616T>C, XM_011531285.1:c.616T>C, XM_011531286.3:c.574T>C, XM_011531286.2:c.574T>C, XM_011531286.1:c.574T>C, XM_011531288.3:c.562T>C, XM_011531288.2:c.562T>C, XM_011531288.1:c.562T>C, XM_011531290.3:c.559T>C, XM_011531290.2:c.559T>C, XM_011531290.1:c.559T>C, XM_011531292.3:c.628T>C, XM_011531292.2:c.628T>C, XM_011531292.1:c.628T>C, XM_047441874.1:c.574T>C, XM_047441875.1:c.571T>C, XM_047441873.1:c.571T>C, XM_047441876.1:c.616T>C

                    10.

                    rs1434601028 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      X:134789259 (GRCh38)
                      X:133923289 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:134789258:C:G
                      Gene:
                      PABIR2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000011/2 (GnomAD_exomes)
                      G=0.000342/1 (KOREAN)
                      HGVS:
                      NC_000023.11:g.134789259C>G, NC_000023.10:g.133923289C>G, NG_016348.1:g.12974G>C, NM_145284.5:c.185G>C, NM_001166599.3:c.185G>C, NM_001166599.2:c.185G>C, NM_001166600.3:c.242G>C, NM_001166600.2:c.242G>C, NM_001170757.2:c.83G>C, NM_001170757.1:c.83G>C, NM_001387468.1:c.242G>C, NM_001331088.1:c.254G>C, NM_001331089.1:c.254G>C, NM_001170756.1:c.242G>C, NM_001387469.1:c.254G>C, NM_001331092.1:c.242G>C, NM_001331090.1:c.197G>C, NM_001331091.1:c.197G>C, NM_001331094.1:c.185G>C, NM_001331093.1:c.185G>C, XM_011531282.3:c.254G>C, XM_011531282.2:c.254G>C, XM_011531282.1:c.254G>C, XM_011531283.3:c.254G>C, XM_011531283.2:c.254G>C, XM_011531283.1:c.254G>C, XM_011531284.3:c.242G>C, XM_011531284.2:c.242G>C, XM_011531284.1:c.242G>C, XM_011531285.3:c.242G>C, XM_011531285.2:c.242G>C, XM_011531285.1:c.242G>C, XM_011531286.3:c.197G>C, XM_011531286.2:c.197G>C, XM_011531286.1:c.197G>C, XM_011531288.3:c.185G>C, XM_011531288.2:c.185G>C, XM_011531288.1:c.185G>C, XM_011531290.3:c.185G>C, XM_011531290.2:c.185G>C, XM_011531290.1:c.185G>C, XM_011531292.3:c.254G>C, XM_011531292.2:c.254G>C, XM_011531292.1:c.254G>C, XM_047441874.1:c.197G>C, XM_047441875.1:c.197G>C, XM_047441873.1:c.197G>C, XM_047441876.1:c.242G>C, NP_660327.2:p.Gly62Ala, NP_001160071.1:p.Gly62Ala, NP_001160072.1:p.Gly81Ala, NP_001164228.1:p.Gly28Ala, NP_001374397.1:p.Gly81Ala, NP_001318017.1:p.Gly85Ala, NP_001318018.1:p.Gly85Ala, NP_001164227.1:p.Gly81Ala, NP_001374398.1:p.Gly85Ala, NP_001318021.1:p.Gly81Ala, NP_001318019.1:p.Gly66Ala, NP_001318020.1:p.Gly66Ala, NP_001318023.1:p.Gly62Ala, NP_001318022.1:p.Gly62Ala, XP_011529584.1:p.Gly85Ala, XP_011529585.1:p.Gly85Ala, XP_011529586.1:p.Gly81Ala, XP_011529587.1:p.Gly81Ala, XP_011529588.1:p.Gly66Ala, XP_011529590.1:p.Gly62Ala, XP_011529592.1:p.Gly62Ala, XP_011529594.1:p.Gly85Ala, XP_047297830.1:p.Gly66Ala, XP_047297831.1:p.Gly66Ala, XP_047297829.1:p.Gly66Ala, XP_047297832.1:p.Gly81Ala

                      11.

                      rs1432213503 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        X:134781883 (GRCh38)
                        X:133915913 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:134781882:G:
                        Gene:
                        PABIR2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.00001/1 (GnomAD)
                        HGVS:
                        NC_000023.11:g.134781883del, NC_000023.10:g.133915913del, NG_016348.1:g.20350del, NM_145284.5:c.540del, NM_001166599.3:c.537del, NM_001166599.2:c.537del, NM_001166600.3:c.594del, NM_001166600.2:c.594del, NM_001170757.2:c.438del, NM_001170757.1:c.438del, NM_001387468.1:c.597del, NM_001331088.1:c.609del, NM_001331089.1:c.606del, NM_001170756.1:c.594del, NM_001387469.1:c.609del, NM_001331092.1:c.597del, NM_001331090.1:c.552del, NM_001331091.1:c.549del, NM_001331094.1:c.540del, NM_001331093.1:c.537del, XM_011531282.3:c.609del, XM_011531282.2:c.609del, XM_011531282.1:c.609del, XM_011531283.3:c.606del, XM_011531283.2:c.606del, XM_011531283.1:c.606del, XM_011531284.3:c.597del, XM_011531284.2:c.597del, XM_011531284.1:c.597del, XM_011531285.3:c.594del, XM_011531285.2:c.594del, XM_011531285.1:c.594del, XM_011531286.3:c.552del, XM_011531286.2:c.552del, XM_011531286.1:c.552del, XM_011531288.3:c.540del, XM_011531288.2:c.540del, XM_011531288.1:c.540del, XM_011531290.3:c.537del, XM_011531290.2:c.537del, XM_011531290.1:c.537del, XM_011531292.3:c.606del, XM_011531292.2:c.606del, XM_011531292.1:c.606del, XM_047441874.1:c.552del, XM_047441875.1:c.549del, XM_047441873.1:c.549del, XM_047441876.1:c.594del, NP_660327.2:p.Phe181fs, NP_001160071.1:p.Phe180fs, NP_001160072.1:p.Phe199fs, NP_001164228.1:p.Phe147fs, NP_001374397.1:p.Phe200fs, NP_001318017.1:p.Phe204fs, NP_001318018.1:p.Phe203fs, NP_001164227.1:p.Phe199fs, NP_001374398.1:p.Phe204fs, NP_001318021.1:p.Phe200fs, NP_001318019.1:p.Phe185fs, NP_001318020.1:p.Phe184fs, NP_001318023.1:p.Phe181fs, NP_001318022.1:p.Phe180fs, XP_011529584.1:p.Phe204fs, XP_011529585.1:p.Phe203fs, XP_011529586.1:p.Phe200fs, XP_011529587.1:p.Phe199fs, XP_011529588.1:p.Phe185fs, XP_011529590.1:p.Phe181fs, XP_011529592.1:p.Phe180fs, XP_011529594.1:p.Phe203fs, XP_047297830.1:p.Phe185fs, XP_047297831.1:p.Phe184fs, XP_047297829.1:p.Phe184fs, XP_047297832.1:p.Phe199fs

                        12.

                        rs1428794440 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          X:134772165 (GRCh38)
                          X:133906195 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:134772164:A:G
                          Gene:
                          PABIR2 (Varview)
                          Functional Consequence:
                          synonymous_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000023.11:g.134772165A>G, NC_000023.10:g.133906195A>G, NG_016348.1:g.30068T>C, NM_145284.5:c.721T>C, NM_001166599.3:c.718T>C, NM_001166599.2:c.718T>C, NM_001387468.1:c.778T>C, NM_001331088.1:c.790T>C, NM_001331089.1:c.787T>C, NM_001170756.1:c.775T>C, XM_011531282.3:c.790T>C, XM_011531282.2:c.790T>C, XM_011531282.1:c.790T>C, XM_011531283.3:c.787T>C, XM_011531283.2:c.787T>C, XM_011531283.1:c.787T>C, XM_011531284.3:c.778T>C, XM_011531284.2:c.778T>C, XM_011531284.1:c.778T>C, XM_011531285.3:c.775T>C, XM_011531285.2:c.775T>C, XM_011531285.1:c.775T>C, XM_011531286.3:c.733T>C, XM_011531286.2:c.733T>C, XM_011531286.1:c.733T>C, XM_011531288.3:c.721T>C, XM_011531288.2:c.721T>C, XM_011531288.1:c.721T>C, XM_011531290.3:c.718T>C, XM_011531290.2:c.718T>C, XM_011531290.1:c.718T>C, XM_047441874.1:c.733T>C, XM_047441875.1:c.730T>C, XM_047441873.1:c.730T>C

                          13.

                          rs1425640720 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            X:134787482 (GRCh38)
                            X:133921512 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:134787481:G:A
                            Gene:
                            PABIR2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.00001/1 (GnomAD)
                            HGVS:
                            NC_000023.11:g.134787482G>A, NC_000023.10:g.133921512G>A, NG_016348.1:g.14751C>T, NM_145284.5:c.430C>T, NM_001166599.3:c.430C>T, NM_001166599.2:c.430C>T, NM_001166600.3:c.487C>T, NM_001166600.2:c.487C>T, NM_001170757.2:c.328C>T, NM_001170757.1:c.328C>T, NM_001387468.1:c.487C>T, NM_001331088.1:c.499C>T, NM_001331089.1:c.499C>T, NM_001170756.1:c.487C>T, NM_001387469.1:c.499C>T, NM_001331092.1:c.487C>T, NM_001331090.1:c.442C>T, NM_001331091.1:c.442C>T, NM_001331094.1:c.430C>T, NM_001331093.1:c.430C>T, XM_011531282.3:c.499C>T, XM_011531282.2:c.499C>T, XM_011531282.1:c.499C>T, XM_011531283.3:c.499C>T, XM_011531283.2:c.499C>T, XM_011531283.1:c.499C>T, XM_011531284.3:c.487C>T, XM_011531284.2:c.487C>T, XM_011531284.1:c.487C>T, XM_011531285.3:c.487C>T, XM_011531285.2:c.487C>T, XM_011531285.1:c.487C>T, XM_011531286.3:c.442C>T, XM_011531286.2:c.442C>T, XM_011531286.1:c.442C>T, XM_011531288.3:c.430C>T, XM_011531288.2:c.430C>T, XM_011531288.1:c.430C>T, XM_011531290.3:c.430C>T, XM_011531290.2:c.430C>T, XM_011531290.1:c.430C>T, XM_011531292.3:c.499C>T, XM_011531292.2:c.499C>T, XM_011531292.1:c.499C>T, XM_047441874.1:c.442C>T, XM_047441875.1:c.442C>T, XM_047441873.1:c.442C>T, XM_047441876.1:c.487C>T, NP_660327.2:p.Arg144Ter, NP_001160071.1:p.Arg144Ter, NP_001160072.1:p.Arg163Ter, NP_001164228.1:p.Arg110Ter, NP_001374397.1:p.Arg163Ter, NP_001318017.1:p.Arg167Ter, NP_001318018.1:p.Arg167Ter, NP_001164227.1:p.Arg163Ter, NP_001374398.1:p.Arg167Ter, NP_001318021.1:p.Arg163Ter, NP_001318019.1:p.Arg148Ter, NP_001318020.1:p.Arg148Ter, NP_001318023.1:p.Arg144Ter, NP_001318022.1:p.Arg144Ter, XP_011529584.1:p.Arg167Ter, XP_011529585.1:p.Arg167Ter, XP_011529586.1:p.Arg163Ter, XP_011529587.1:p.Arg163Ter, XP_011529588.1:p.Arg148Ter, XP_011529590.1:p.Arg144Ter, XP_011529592.1:p.Arg144Ter, XP_011529594.1:p.Arg167Ter, XP_047297830.1:p.Arg148Ter, XP_047297831.1:p.Arg148Ter, XP_047297829.1:p.Arg148Ter, XP_047297832.1:p.Arg163Ter

                            14.

                            rs1422012907 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:134772160 (GRCh38)
                              X:133906190 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:134772159:C:T
                              Gene:
                              PABIR2 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000029/3 (GnomAD)
                              HGVS:
                              NC_000023.11:g.134772160C>T, NC_000023.10:g.133906190C>T, NG_016348.1:g.30073G>A, NM_145284.5:c.726G>A, NM_001166599.3:c.723G>A, NM_001166599.2:c.723G>A, NM_001387468.1:c.783G>A, NM_001331088.1:c.795G>A, NM_001331089.1:c.792G>A, NM_001170756.1:c.780G>A, XM_011531282.3:c.795G>A, XM_011531282.2:c.795G>A, XM_011531282.1:c.795G>A, XM_011531283.3:c.792G>A, XM_011531283.2:c.792G>A, XM_011531283.1:c.792G>A, XM_011531284.3:c.783G>A, XM_011531284.2:c.783G>A, XM_011531284.1:c.783G>A, XM_011531285.3:c.780G>A, XM_011531285.2:c.780G>A, XM_011531285.1:c.780G>A, XM_011531286.3:c.738G>A, XM_011531286.2:c.738G>A, XM_011531286.1:c.738G>A, XM_011531288.3:c.726G>A, XM_011531288.2:c.726G>A, XM_011531288.1:c.726G>A, XM_011531290.3:c.723G>A, XM_011531290.2:c.723G>A, XM_011531290.1:c.723G>A, XM_047441874.1:c.738G>A, XM_047441875.1:c.735G>A, XM_047441873.1:c.735G>A, NP_660327.2:p.Met242Ile, NP_001160071.1:p.Met241Ile, NP_001374397.1:p.Met261Ile, NP_001318017.1:p.Met265Ile, NP_001318018.1:p.Met264Ile, NP_001164227.1:p.Met260Ile, XP_011529584.1:p.Met265Ile, XP_011529585.1:p.Met264Ile, XP_011529586.1:p.Met261Ile, XP_011529587.1:p.Met260Ile, XP_011529588.1:p.Met246Ile, XP_011529590.1:p.Met242Ile, XP_011529592.1:p.Met241Ile, XP_047297830.1:p.Met246Ile, XP_047297831.1:p.Met245Ile, XP_047297829.1:p.Met245Ile

                              15.

                              rs1406285924 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                X:134787491 (GRCh38)
                                X:133921521 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:134787490:T:C,NC_000023.11:134787490:T:G
                                Gene:
                                PABIR2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000005/1 (GnomAD_exomes)
                                C=0.000685/2 (KOREAN)
                                HGVS:
                                NC_000023.11:g.134787491T>C, NC_000023.11:g.134787491T>G, NC_000023.10:g.133921521T>C, NC_000023.10:g.133921521T>G, NG_016348.1:g.14742A>G, NG_016348.1:g.14742A>C, NM_145284.5:c.421A>G, NM_145284.5:c.421A>C, NM_001166599.3:c.421A>G, NM_001166599.3:c.421A>C, NM_001166599.2:c.421A>G, NM_001166599.2:c.421A>C, NM_001166600.3:c.478A>G, NM_001166600.3:c.478A>C, NM_001166600.2:c.478A>G, NM_001166600.2:c.478A>C, NM_001170757.2:c.319A>G, NM_001170757.2:c.319A>C, NM_001170757.1:c.319A>G, NM_001170757.1:c.319A>C, NM_001387468.1:c.478A>G, NM_001387468.1:c.478A>C, NM_001331088.1:c.490A>G, NM_001331088.1:c.490A>C, NM_001331089.1:c.490A>G, NM_001331089.1:c.490A>C, NM_001170756.1:c.478A>G, NM_001170756.1:c.478A>C, NM_001387469.1:c.490A>G, NM_001387469.1:c.490A>C, NM_001331092.1:c.478A>G, NM_001331092.1:c.478A>C, NM_001331090.1:c.433A>G, NM_001331090.1:c.433A>C, NM_001331091.1:c.433A>G, NM_001331091.1:c.433A>C, NM_001331094.1:c.421A>G, NM_001331094.1:c.421A>C, NM_001331093.1:c.421A>G, NM_001331093.1:c.421A>C, XM_011531282.3:c.490A>G, XM_011531282.3:c.490A>C, XM_011531282.2:c.490A>G, XM_011531282.2:c.490A>C, XM_011531282.1:c.490A>G, XM_011531282.1:c.490A>C, XM_011531283.3:c.490A>G, XM_011531283.3:c.490A>C, XM_011531283.2:c.490A>G, XM_011531283.2:c.490A>C, XM_011531283.1:c.490A>G, XM_011531283.1:c.490A>C, XM_011531284.3:c.478A>G, XM_011531284.3:c.478A>C, XM_011531284.2:c.478A>G, XM_011531284.2:c.478A>C, XM_011531284.1:c.478A>G, XM_011531284.1:c.478A>C, XM_011531285.3:c.478A>G, XM_011531285.3:c.478A>C, XM_011531285.2:c.478A>G, XM_011531285.2:c.478A>C, XM_011531285.1:c.478A>G, XM_011531285.1:c.478A>C, XM_011531286.3:c.433A>G, XM_011531286.3:c.433A>C, XM_011531286.2:c.433A>G, XM_011531286.2:c.433A>C, XM_011531286.1:c.433A>G, XM_011531286.1:c.433A>C, XM_011531288.3:c.421A>G, XM_011531288.3:c.421A>C, XM_011531288.2:c.421A>G, XM_011531288.2:c.421A>C, XM_011531288.1:c.421A>G, XM_011531288.1:c.421A>C, XM_011531290.3:c.421A>G, XM_011531290.3:c.421A>C, XM_011531290.2:c.421A>G, XM_011531290.2:c.421A>C, XM_011531290.1:c.421A>G, XM_011531290.1:c.421A>C, XM_011531292.3:c.490A>G, XM_011531292.3:c.490A>C, XM_011531292.2:c.490A>G, XM_011531292.2:c.490A>C, XM_011531292.1:c.490A>G, XM_011531292.1:c.490A>C, XM_047441874.1:c.433A>G, XM_047441874.1:c.433A>C, XM_047441875.1:c.433A>G, XM_047441875.1:c.433A>C, XM_047441873.1:c.433A>G, XM_047441873.1:c.433A>C, XM_047441876.1:c.478A>G, XM_047441876.1:c.478A>C, NP_660327.2:p.Ser141Gly, NP_660327.2:p.Ser141Arg, NP_001160071.1:p.Ser141Gly, NP_001160071.1:p.Ser141Arg, NP_001160072.1:p.Ser160Gly, NP_001160072.1:p.Ser160Arg, NP_001164228.1:p.Ser107Gly, NP_001164228.1:p.Ser107Arg, NP_001374397.1:p.Ser160Gly, NP_001374397.1:p.Ser160Arg, NP_001318017.1:p.Ser164Gly, NP_001318017.1:p.Ser164Arg, NP_001318018.1:p.Ser164Gly, NP_001318018.1:p.Ser164Arg, NP_001164227.1:p.Ser160Gly, NP_001164227.1:p.Ser160Arg, NP_001374398.1:p.Ser164Gly, NP_001374398.1:p.Ser164Arg, NP_001318021.1:p.Ser160Gly, NP_001318021.1:p.Ser160Arg, NP_001318019.1:p.Ser145Gly, NP_001318019.1:p.Ser145Arg, NP_001318020.1:p.Ser145Gly, NP_001318020.1:p.Ser145Arg, NP_001318023.1:p.Ser141Gly, NP_001318023.1:p.Ser141Arg, NP_001318022.1:p.Ser141Gly, NP_001318022.1:p.Ser141Arg, XP_011529584.1:p.Ser164Gly, XP_011529584.1:p.Ser164Arg, XP_011529585.1:p.Ser164Gly, XP_011529585.1:p.Ser164Arg, XP_011529586.1:p.Ser160Gly, XP_011529586.1:p.Ser160Arg, XP_011529587.1:p.Ser160Gly, XP_011529587.1:p.Ser160Arg, XP_011529588.1:p.Ser145Gly, XP_011529588.1:p.Ser145Arg, XP_011529590.1:p.Ser141Gly, XP_011529590.1:p.Ser141Arg, XP_011529592.1:p.Ser141Gly, XP_011529592.1:p.Ser141Arg, XP_011529594.1:p.Ser164Gly, XP_011529594.1:p.Ser164Arg, XP_047297830.1:p.Ser145Gly, XP_047297830.1:p.Ser145Arg, XP_047297831.1:p.Ser145Gly, XP_047297831.1:p.Ser145Arg, XP_047297829.1:p.Ser145Gly, XP_047297829.1:p.Ser145Arg, XP_047297832.1:p.Ser160Gly, XP_047297832.1:p.Ser160Arg

                                16.

                                rs1404332808 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:134796160 (GRCh38)
                                  X:133930190 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:134796159:A:G
                                  Gene:
                                  PABIR2 (Varview), PABIR3 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.134796160A>G, NC_000023.10:g.133930190A>G, NG_016383.1:g.4748A>G, NG_016348.1:g.6073T>C, NM_145284.5:c.46T>C, NM_001166599.3:c.46T>C, NM_001166599.2:c.46T>C, NM_001166600.3:c.46T>C, NM_001166600.2:c.46T>C, NM_001387468.1:c.46T>C, NM_001331088.1:c.46T>C, NM_001331089.1:c.46T>C, NM_001170756.1:c.46T>C, NM_001387469.1:c.46T>C, NM_001331092.1:c.46T>C, NM_001331090.1:c.46T>C, NM_001331091.1:c.46T>C, NM_001331094.1:c.46T>C, NM_001331093.1:c.46T>C, XM_011531282.3:c.46T>C, XM_011531282.2:c.46T>C, XM_011531282.1:c.46T>C, XM_011531283.3:c.46T>C, XM_011531283.2:c.46T>C, XM_011531283.1:c.46T>C, XM_011531284.3:c.46T>C, XM_011531284.2:c.46T>C, XM_011531284.1:c.46T>C, XM_011531285.3:c.46T>C, XM_011531285.2:c.46T>C, XM_011531285.1:c.46T>C, XM_011531286.3:c.46T>C, XM_011531286.2:c.46T>C, XM_011531286.1:c.46T>C, XM_011531288.3:c.46T>C, XM_011531288.2:c.46T>C, XM_011531288.1:c.46T>C, XM_011531290.3:c.46T>C, XM_011531290.2:c.46T>C, XM_011531290.1:c.46T>C, XM_011531292.3:c.46T>C, XM_011531292.2:c.46T>C, XM_011531292.1:c.46T>C, XM_047441874.1:c.46T>C, XM_047441875.1:c.46T>C, XM_047441873.1:c.46T>C, XM_047441876.1:c.46T>C, NP_660327.2:p.Tyr16His, NP_001160071.1:p.Tyr16His, NP_001160072.1:p.Tyr16His, NP_001374397.1:p.Tyr16His, NP_001318017.1:p.Tyr16His, NP_001318018.1:p.Tyr16His, NP_001164227.1:p.Tyr16His, NP_001374398.1:p.Tyr16His, NP_001318021.1:p.Tyr16His, NP_001318019.1:p.Tyr16His, NP_001318020.1:p.Tyr16His, NP_001318023.1:p.Tyr16His, NP_001318022.1:p.Tyr16His, XP_011529584.1:p.Tyr16His, XP_011529585.1:p.Tyr16His, XP_011529586.1:p.Tyr16His, XP_011529587.1:p.Tyr16His, XP_011529588.1:p.Tyr16His, XP_011529590.1:p.Tyr16His, XP_011529592.1:p.Tyr16His, XP_011529594.1:p.Tyr16His, XP_047297830.1:p.Tyr16His, XP_047297831.1:p.Tyr16His, XP_047297829.1:p.Tyr16His, XP_047297832.1:p.Tyr16His

                                  17.

                                  rs1396101433 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    X:134789255 (GRCh38)
                                    X:133923285 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:134789254:C:A
                                    Gene:
                                    PABIR2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000023.11:g.134789255C>A, NC_000023.10:g.133923285C>A, NG_016348.1:g.12978G>T, NM_145284.5:c.189G>T, NM_001166599.3:c.189G>T, NM_001166599.2:c.189G>T, NM_001166600.3:c.246G>T, NM_001166600.2:c.246G>T, NM_001170757.2:c.87G>T, NM_001170757.1:c.87G>T, NM_001387468.1:c.246G>T, NM_001331088.1:c.258G>T, NM_001331089.1:c.258G>T, NM_001170756.1:c.246G>T, NM_001387469.1:c.258G>T, NM_001331092.1:c.246G>T, NM_001331090.1:c.201G>T, NM_001331091.1:c.201G>T, NM_001331094.1:c.189G>T, NM_001331093.1:c.189G>T, XM_011531282.3:c.258G>T, XM_011531282.2:c.258G>T, XM_011531282.1:c.258G>T, XM_011531283.3:c.258G>T, XM_011531283.2:c.258G>T, XM_011531283.1:c.258G>T, XM_011531284.3:c.246G>T, XM_011531284.2:c.246G>T, XM_011531284.1:c.246G>T, XM_011531285.3:c.246G>T, XM_011531285.2:c.246G>T, XM_011531285.1:c.246G>T, XM_011531286.3:c.201G>T, XM_011531286.2:c.201G>T, XM_011531286.1:c.201G>T, XM_011531288.3:c.189G>T, XM_011531288.2:c.189G>T, XM_011531288.1:c.189G>T, XM_011531290.3:c.189G>T, XM_011531290.2:c.189G>T, XM_011531290.1:c.189G>T, XM_011531292.3:c.258G>T, XM_011531292.2:c.258G>T, XM_011531292.1:c.258G>T, XM_047441874.1:c.201G>T, XM_047441875.1:c.201G>T, XM_047441873.1:c.201G>T, XM_047441876.1:c.246G>T

                                    18.

                                    rs1395885113 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      X:134789601 (GRCh38)
                                      X:133923631 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:134789600:G:T
                                      Gene:
                                      PABIR2 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.00001/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.134789601G>T, NC_000023.10:g.133923631G>T, NG_016348.1:g.12632C>A, NM_001166600.3:c.213C>A, NM_001166600.2:c.213C>A, NM_001170757.2:c.54C>A, NM_001170757.1:c.54C>A, NM_001387468.1:c.213C>A, NM_001331088.1:c.225C>A, NM_001331089.1:c.225C>A, NM_001170756.1:c.213C>A, NM_001387469.1:c.225C>A, NM_001331092.1:c.213C>A, XM_011531282.3:c.225C>A, XM_011531282.2:c.225C>A, XM_011531282.1:c.225C>A, XM_011531283.3:c.225C>A, XM_011531283.2:c.225C>A, XM_011531283.1:c.225C>A, XM_011531284.3:c.213C>A, XM_011531284.2:c.213C>A, XM_011531284.1:c.213C>A, XM_011531285.3:c.213C>A, XM_011531285.2:c.213C>A, XM_011531285.1:c.213C>A, XM_011531292.3:c.225C>A, XM_011531292.2:c.225C>A, XM_011531292.1:c.225C>A, XM_047441876.1:c.213C>A, NP_001160072.1:p.Ser71Arg, NP_001164228.1:p.Ser18Arg, NP_001374397.1:p.Ser71Arg, NP_001318017.1:p.Ser75Arg, NP_001318018.1:p.Ser75Arg, NP_001164227.1:p.Ser71Arg, NP_001374398.1:p.Ser75Arg, NP_001318021.1:p.Ser71Arg, XP_011529584.1:p.Ser75Arg, XP_011529585.1:p.Ser75Arg, XP_011529586.1:p.Ser71Arg, XP_011529587.1:p.Ser71Arg, XP_011529594.1:p.Ser75Arg, XP_047297832.1:p.Ser71Arg

                                      19.

                                      rs1386044773 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        X:134796128 (GRCh38)
                                        X:133930158 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:134796127:A:G
                                        Gene:
                                        PABIR2 (Varview), PABIR3 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000023.11:g.134796128A>G, NC_000023.10:g.133930158A>G, NG_016383.1:g.4716A>G, NG_016348.1:g.6105T>C, NM_145284.5:c.78T>C, NM_001166599.3:c.78T>C, NM_001166599.2:c.78T>C, NM_001166600.3:c.78T>C, NM_001166600.2:c.78T>C, NM_001387468.1:c.78T>C, NM_001331088.1:c.78T>C, NM_001331089.1:c.78T>C, NM_001170756.1:c.78T>C, NM_001387469.1:c.78T>C, NM_001331092.1:c.78T>C, NM_001331090.1:c.78T>C, NM_001331091.1:c.78T>C, NM_001331094.1:c.78T>C, NM_001331093.1:c.78T>C, XM_011531282.3:c.78T>C, XM_011531282.2:c.78T>C, XM_011531282.1:c.78T>C, XM_011531283.3:c.78T>C, XM_011531283.2:c.78T>C, XM_011531283.1:c.78T>C, XM_011531284.3:c.78T>C, XM_011531284.2:c.78T>C, XM_011531284.1:c.78T>C, XM_011531285.3:c.78T>C, XM_011531285.2:c.78T>C, XM_011531285.1:c.78T>C, XM_011531286.3:c.78T>C, XM_011531286.2:c.78T>C, XM_011531286.1:c.78T>C, XM_011531288.3:c.78T>C, XM_011531288.2:c.78T>C, XM_011531288.1:c.78T>C, XM_011531290.3:c.78T>C, XM_011531290.2:c.78T>C, XM_011531290.1:c.78T>C, XM_011531292.3:c.78T>C, XM_011531292.2:c.78T>C, XM_011531292.1:c.78T>C, XM_047441874.1:c.78T>C, XM_047441875.1:c.78T>C, XM_047441873.1:c.78T>C, XM_047441876.1:c.78T>C

                                        20.

                                        rs1381218595 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          X:134789587 (GRCh38)
                                          X:133923617 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:134789586:A:G
                                          Gene:
                                          PABIR2 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.00001/1 (GnomAD_exomes)
                                          G=0.000029/3 (GnomAD)
                                          HGVS:
                                          NC_000023.11:g.134789587A>G, NC_000023.10:g.133923617A>G, NG_016348.1:g.12646T>C, NM_001166600.3:c.227T>C, NM_001166600.2:c.227T>C, NM_001170757.2:c.68T>C, NM_001170757.1:c.68T>C, NM_001387468.1:c.227T>C, NM_001331088.1:c.239T>C, NM_001331089.1:c.239T>C, NM_001170756.1:c.227T>C, NM_001387469.1:c.239T>C, NM_001331092.1:c.227T>C, XM_011531282.3:c.239T>C, XM_011531282.2:c.239T>C, XM_011531282.1:c.239T>C, XM_011531283.3:c.239T>C, XM_011531283.2:c.239T>C, XM_011531283.1:c.239T>C, XM_011531284.3:c.227T>C, XM_011531284.2:c.227T>C, XM_011531284.1:c.227T>C, XM_011531285.3:c.227T>C, XM_011531285.2:c.227T>C, XM_011531285.1:c.227T>C, XM_011531292.3:c.239T>C, XM_011531292.2:c.239T>C, XM_011531292.1:c.239T>C, XM_047441876.1:c.227T>C, NP_001160072.1:p.Ile76Thr, NP_001164228.1:p.Ile23Thr, NP_001374397.1:p.Ile76Thr, NP_001318017.1:p.Ile80Thr, NP_001318018.1:p.Ile80Thr, NP_001164227.1:p.Ile76Thr, NP_001374398.1:p.Ile80Thr, NP_001318021.1:p.Ile76Thr, XP_011529584.1:p.Ile80Thr, XP_011529585.1:p.Ile80Thr, XP_011529586.1:p.Ile76Thr, XP_011529587.1:p.Ile76Thr, XP_011529594.1:p.Ile80Thr, XP_047297832.1:p.Ile76Thr

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