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Items: 1 to 20 of 358

1.

rs1486398001 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    X:117899274 (GRCh38)
    X:117033237 (GRCh37)
    Canonical SPDI:
    NC_000023.11:117899273:T:C
    Gene:
    KLHL13 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000005/1 (GnomAD_exomes)
    C=0.000208/1 (1000Genomes)
    HGVS:
    NC_000023.11:g.117899274T>C, NC_000023.10:g.117033237T>C, NG_016759.1:g.223067A>G, NM_033495.3:c.1602A>G, NM_033495.4:c.1602A>G, NM_001168302.2:c.1554A>G, NM_001168302.1:c.1554A>G, NM_001168303.2:c.1476A>G, NM_001168303.4:c.1449A>G, NM_001168303.3:c.1476A>G, NM_001168303.1:c.1476A>G, NM_001168299.2:c.1611A>G, NM_001168299.1:c.1611A>G, NM_001168301.2:c.1554A>G, NM_001168301.1:c.1554A>G, NM_001168300.1:c.1584A>G, NM_001168300.2:c.1584A>G, XM_011531409.4:c.1620A>G, XM_011531409.3:c.1620A>G, XM_011531409.2:c.1620A>G, XM_011531409.1:c.1620A>G, XM_011531410.4:c.1620A>G, XM_011531410.3:c.1620A>G, XM_011531410.2:c.1620A>G, XM_011531410.1:c.1620A>G, NM_001394865.3:c.1449A>G, NM_001394865.2:c.1476A>G, XM_047442623.1:c.1476A>G, XM_047442622.1:c.1554A>G, NM_001394863.1:c.1602A>G, NM_001394864.1:c.1575A>G, NM_001394865.1:c.1476A>G, XM_047442625.1:c.1476A>G, NM_001394866.1:c.1467A>G, XM_047442621.1:c.1620A>G, XM_047442624.1:c.1476A>G

    2.

    rs1482650781 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      X:117901930 (GRCh38)
      X:117035893 (GRCh37)
      Canonical SPDI:
      NC_000023.11:117901929:G:C
      Gene:
      KLHL13 (Varview)
      Functional Consequence:
      stop_gained,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      NC_000023.11:g.117901930G>C, NC_000023.10:g.117035893G>C, NG_016759.1:g.220411C>G, NM_033495.3:c.1383C>G, NM_033495.4:c.1383C>G, NM_001168302.2:c.1335C>G, NM_001168302.1:c.1335C>G, NM_001168303.2:c.1257C>G, NM_001168303.4:c.1230C>G, NM_001168303.3:c.1257C>G, NM_001168303.1:c.1257C>G, NM_001168299.2:c.1392C>G, NM_001168299.1:c.1392C>G, NM_001168301.2:c.1335C>G, NM_001168301.1:c.1335C>G, NM_001168300.1:c.1365C>G, NM_001168300.2:c.1365C>G, XM_011531409.4:c.1401C>G, XM_011531409.3:c.1401C>G, XM_011531409.2:c.1401C>G, XM_011531409.1:c.1401C>G, XM_011531410.4:c.1401C>G, XM_011531410.3:c.1401C>G, XM_011531410.2:c.1401C>G, XM_011531410.1:c.1401C>G, NM_001394865.3:c.1230C>G, NM_001394865.2:c.1257C>G, XM_047442623.1:c.1257C>G, XM_047442622.1:c.1335C>G, NM_001394863.1:c.1383C>G, NM_001394864.1:c.1356C>G, NM_001394865.1:c.1257C>G, XM_047442625.1:c.1257C>G, NM_001394866.1:c.1248C>G, XM_047442621.1:c.1401C>G, XM_047442624.1:c.1257C>G, NP_277030.2:p.Tyr461Ter, NP_001161774.1:p.Tyr445Ter, NP_001161775.2:p.Tyr410Ter, NP_001161771.1:p.Tyr464Ter, NP_001161773.1:p.Tyr445Ter, NP_001161772.1:p.Tyr455Ter, XP_011529711.1:p.Tyr467Ter, XP_011529712.1:p.Tyr467Ter, XP_047298579.1:p.Tyr419Ter, XP_047298578.1:p.Tyr445Ter, NP_001381792.1:p.Tyr461Ter, NP_001381793.1:p.Tyr452Ter, XP_047298581.1:p.Tyr419Ter, NP_001381795.1:p.Tyr416Ter, XP_047298577.1:p.Tyr467Ter, XP_047298580.1:p.Tyr419Ter

      3.

      rs1480072317 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        X:117898931 (GRCh38)
        X:117032894 (GRCh37)
        Canonical SPDI:
        NC_000023.11:117898930:C:G
        Gene:
        KLHL13 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000022/4 (GnomAD_exomes)
        HGVS:
        NC_000023.11:g.117898931C>G, NC_000023.10:g.117032894C>G, NG_016759.1:g.223410G>C, NM_033495.3:c.1945G>C, NM_033495.4:c.1945G>C, NM_001168302.2:c.1897G>C, NM_001168302.1:c.1897G>C, NM_001168303.2:c.1819G>C, NM_001168303.4:c.1792G>C, NM_001168303.3:c.1819G>C, NM_001168303.1:c.1819G>C, NM_001168299.2:c.1954G>C, NM_001168299.1:c.1954G>C, NM_001168301.2:c.1897G>C, NM_001168301.1:c.1897G>C, NM_001168300.1:c.1927G>C, NM_001168300.2:c.1927G>C, XM_011531409.4:c.1963G>C, XM_011531409.3:c.1963G>C, XM_011531409.2:c.1963G>C, XM_011531409.1:c.1963G>C, XM_011531410.4:c.1963G>C, XM_011531410.3:c.1963G>C, XM_011531410.2:c.1963G>C, XM_011531410.1:c.1963G>C, NM_001394865.3:c.1792G>C, NM_001394865.2:c.1819G>C, XM_047442623.1:c.1819G>C, XM_047442622.1:c.1897G>C, NM_001394863.1:c.1945G>C, NM_001394864.1:c.1918G>C, NM_001394865.1:c.1819G>C, XM_047442625.1:c.1819G>C, NM_001394866.1:c.1810G>C, XM_047442621.1:c.1963G>C, XM_047442624.1:c.1819G>C, NP_277030.2:p.Glu649Gln, NP_001161774.1:p.Glu633Gln, NP_001161775.2:p.Glu598Gln, NP_001161771.1:p.Glu652Gln, NP_001161773.1:p.Glu633Gln, NP_001161772.1:p.Glu643Gln, XP_011529711.1:p.Glu655Gln, XP_011529712.1:p.Glu655Gln, XP_047298579.1:p.Glu607Gln, XP_047298578.1:p.Glu633Gln, NP_001381792.1:p.Glu649Gln, NP_001381793.1:p.Glu640Gln, XP_047298581.1:p.Glu607Gln, NP_001381795.1:p.Glu604Gln, XP_047298577.1:p.Glu655Gln, XP_047298580.1:p.Glu607Gln

        4.

        rs1475059625 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          X:117920265 (GRCh38)
          X:117054228 (GRCh37)
          Canonical SPDI:
          NC_000023.11:117920264:T:A,NC_000023.11:117920264:T:C
          Gene:
          KLHL13 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          NC_000023.11:g.117920265T>A, NC_000023.11:g.117920265T>C, NC_000023.10:g.117054228T>A, NC_000023.10:g.117054228T>C, NG_016759.1:g.202076A>T, NG_016759.1:g.202076A>G, NM_033495.3:c.346A>T, NM_033495.3:c.346A>G, NM_033495.4:c.346A>T, NM_033495.4:c.346A>G, NM_001168302.2:c.298A>T, NM_001168302.2:c.298A>G, NM_001168302.1:c.298A>T, NM_001168302.1:c.298A>G, NM_001168303.2:c.220A>T, NM_001168303.2:c.220A>G, NM_001168303.4:c.193A>T, NM_001168303.4:c.193A>G, NM_001168303.3:c.220A>T, NM_001168303.3:c.220A>G, NM_001168303.1:c.220A>T, NM_001168303.1:c.220A>G, NM_001168299.2:c.355A>T, NM_001168299.2:c.355A>G, NM_001168299.1:c.355A>T, NM_001168299.1:c.355A>G, NM_001168301.2:c.298A>T, NM_001168301.2:c.298A>G, NM_001168301.1:c.298A>T, NM_001168301.1:c.298A>G, NM_001168300.1:c.328A>T, NM_001168300.1:c.328A>G, NM_001168300.2:c.328A>T, NM_001168300.2:c.328A>G, XM_011531409.4:c.364A>T, XM_011531409.4:c.364A>G, XM_011531409.3:c.364A>T, XM_011531409.3:c.364A>G, XM_011531409.2:c.364A>T, XM_011531409.2:c.364A>G, XM_011531409.1:c.364A>T, XM_011531409.1:c.364A>G, XM_011531410.4:c.364A>T, XM_011531410.4:c.364A>G, XM_011531410.3:c.364A>T, XM_011531410.3:c.364A>G, XM_011531410.2:c.364A>T, XM_011531410.2:c.364A>G, XM_011531410.1:c.364A>T, XM_011531410.1:c.364A>G, NM_001394865.3:c.193A>T, NM_001394865.3:c.193A>G, NM_001394865.2:c.220A>T, NM_001394865.2:c.220A>G, XM_047442623.1:c.220A>T, XM_047442623.1:c.220A>G, XM_047442622.1:c.298A>T, XM_047442622.1:c.298A>G, NM_001394863.1:c.346A>T, NM_001394863.1:c.346A>G, NM_001394864.1:c.328A>T, NM_001394864.1:c.328A>G, NM_001394865.1:c.220A>T, NM_001394865.1:c.220A>G, XM_047442625.1:c.220A>T, XM_047442625.1:c.220A>G, NM_001394866.1:c.220A>T, NM_001394866.1:c.220A>G, XM_047442621.1:c.364A>T, XM_047442621.1:c.364A>G, XM_047442624.1:c.220A>T, XM_047442624.1:c.220A>G, NP_277030.2:p.Ser116Cys, NP_277030.2:p.Ser116Gly, NP_001161774.1:p.Ser100Cys, NP_001161774.1:p.Ser100Gly, NP_001161775.2:p.Ser65Cys, NP_001161775.2:p.Ser65Gly, NP_001161771.1:p.Ser119Cys, NP_001161771.1:p.Ser119Gly, NP_001161773.1:p.Ser100Cys, NP_001161773.1:p.Ser100Gly, NP_001161772.1:p.Ser110Cys, NP_001161772.1:p.Ser110Gly, XP_011529711.1:p.Ser122Cys, XP_011529711.1:p.Ser122Gly, XP_011529712.1:p.Ser122Cys, XP_011529712.1:p.Ser122Gly, XP_047298579.1:p.Ser74Cys, XP_047298579.1:p.Ser74Gly, XP_047298578.1:p.Ser100Cys, XP_047298578.1:p.Ser100Gly, NP_001381792.1:p.Ser116Cys, NP_001381792.1:p.Ser116Gly, NP_001381793.1:p.Ser110Cys, NP_001381793.1:p.Ser110Gly, XP_047298581.1:p.Ser74Cys, XP_047298581.1:p.Ser74Gly, NP_001381795.1:p.Ser74Cys, NP_001381795.1:p.Ser74Gly, XP_047298577.1:p.Ser122Cys, XP_047298577.1:p.Ser122Gly, XP_047298580.1:p.Ser74Cys, XP_047298580.1:p.Ser74Gly

          5.

          rs1474252320 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:117909400 (GRCh38)
            X:117043363 (GRCh37)
            Canonical SPDI:
            NC_000023.11:117909399:G:A
            Gene:
            KLHL13 (Varview)
            Functional Consequence:
            stop_gained,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.117909400G>A, NC_000023.10:g.117043363G>A, NG_016759.1:g.212941C>T, NM_033495.3:c.1267C>T, NM_033495.4:c.1267C>T, NM_001168302.2:c.1219C>T, NM_001168302.1:c.1219C>T, NM_001168303.2:c.1141C>T, NM_001168303.4:c.1114C>T, NM_001168303.3:c.1141C>T, NM_001168303.1:c.1141C>T, NM_001168299.2:c.1276C>T, NM_001168299.1:c.1276C>T, NM_001168301.2:c.1219C>T, NM_001168301.1:c.1219C>T, NM_001168300.1:c.1249C>T, NM_001168300.2:c.1249C>T, XM_011531409.4:c.1285C>T, XM_011531409.3:c.1285C>T, XM_011531409.2:c.1285C>T, XM_011531409.1:c.1285C>T, XM_011531410.4:c.1285C>T, XM_011531410.3:c.1285C>T, XM_011531410.2:c.1285C>T, XM_011531410.1:c.1285C>T, NM_001394865.3:c.1114C>T, NM_001394865.2:c.1141C>T, XM_047442623.1:c.1141C>T, XM_047442622.1:c.1219C>T, NM_001394863.1:c.1267C>T, NM_001394864.1:c.1249C>T, NM_001394865.1:c.1141C>T, XM_047442625.1:c.1141C>T, NM_001394866.1:c.1141C>T, XM_047442621.1:c.1285C>T, XM_047442624.1:c.1141C>T, NP_277030.2:p.Gln423Ter, NP_001161774.1:p.Gln407Ter, NP_001161775.2:p.Gln372Ter, NP_001161771.1:p.Gln426Ter, NP_001161773.1:p.Gln407Ter, NP_001161772.1:p.Gln417Ter, XP_011529711.1:p.Gln429Ter, XP_011529712.1:p.Gln429Ter, XP_047298579.1:p.Gln381Ter, XP_047298578.1:p.Gln407Ter, NP_001381792.1:p.Gln423Ter, NP_001381793.1:p.Gln417Ter, XP_047298581.1:p.Gln381Ter, NP_001381795.1:p.Gln381Ter, XP_047298577.1:p.Gln429Ter, XP_047298580.1:p.Gln381Ter

            6.

            rs1468573057 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              X:117909821 (GRCh38)
              X:117043784 (GRCh37)
              Canonical SPDI:
              NC_000023.11:117909820:T:A
              Gene:
              KLHL13 (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.117909821T>A, NC_000023.10:g.117043784T>A, NG_016759.1:g.212520A>T, NM_033495.3:c.846A>T, NM_033495.4:c.846A>T, NM_001168302.2:c.798A>T, NM_001168302.1:c.798A>T, NM_001168303.2:c.720A>T, NM_001168303.4:c.693A>T, NM_001168303.3:c.720A>T, NM_001168303.1:c.720A>T, NM_001168299.2:c.855A>T, NM_001168299.1:c.855A>T, NM_001168301.2:c.798A>T, NM_001168301.1:c.798A>T, NM_001168300.1:c.828A>T, NM_001168300.2:c.828A>T, XM_011531409.4:c.864A>T, XM_011531409.3:c.864A>T, XM_011531409.2:c.864A>T, XM_011531409.1:c.864A>T, XM_011531410.4:c.864A>T, XM_011531410.3:c.864A>T, XM_011531410.2:c.864A>T, XM_011531410.1:c.864A>T, NM_001394865.3:c.693A>T, NM_001394865.2:c.720A>T, XM_047442623.1:c.720A>T, XM_047442622.1:c.798A>T, NM_001394863.1:c.846A>T, NM_001394864.1:c.828A>T, NM_001394865.1:c.720A>T, XM_047442625.1:c.720A>T, NM_001394866.1:c.720A>T, XM_047442621.1:c.864A>T, XM_047442624.1:c.720A>T

              7.

              rs1468232813 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:117909465 (GRCh38)
                X:117043428 (GRCh37)
                Canonical SPDI:
                NC_000023.11:117909464:T:C
                Gene:
                KLHL13 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000019/5 (TOPMED)
                HGVS:
                NC_000023.11:g.117909465T>C, NC_000023.10:g.117043428T>C, NG_016759.1:g.212876A>G, NM_033495.3:c.1202A>G, NM_033495.4:c.1202A>G, NM_001168302.2:c.1154A>G, NM_001168302.1:c.1154A>G, NM_001168303.2:c.1076A>G, NM_001168303.4:c.1049A>G, NM_001168303.3:c.1076A>G, NM_001168303.1:c.1076A>G, NM_001168299.2:c.1211A>G, NM_001168299.1:c.1211A>G, NM_001168301.2:c.1154A>G, NM_001168301.1:c.1154A>G, NM_001168300.1:c.1184A>G, NM_001168300.2:c.1184A>G, XM_011531409.4:c.1220A>G, XM_011531409.3:c.1220A>G, XM_011531409.2:c.1220A>G, XM_011531409.1:c.1220A>G, XM_011531410.4:c.1220A>G, XM_011531410.3:c.1220A>G, XM_011531410.2:c.1220A>G, XM_011531410.1:c.1220A>G, NM_001394865.3:c.1049A>G, NM_001394865.2:c.1076A>G, XM_047442623.1:c.1076A>G, XM_047442622.1:c.1154A>G, NM_001394863.1:c.1202A>G, NM_001394864.1:c.1184A>G, NM_001394865.1:c.1076A>G, XM_047442625.1:c.1076A>G, NM_001394866.1:c.1076A>G, XM_047442621.1:c.1220A>G, XM_047442624.1:c.1076A>G, NP_277030.2:p.Asp401Gly, NP_001161774.1:p.Asp385Gly, NP_001161775.2:p.Asp350Gly, NP_001161771.1:p.Asp404Gly, NP_001161773.1:p.Asp385Gly, NP_001161772.1:p.Asp395Gly, XP_011529711.1:p.Asp407Gly, XP_011529712.1:p.Asp407Gly, XP_047298579.1:p.Asp359Gly, XP_047298578.1:p.Asp385Gly, NP_001381792.1:p.Asp401Gly, NP_001381793.1:p.Asp395Gly, XP_047298581.1:p.Asp359Gly, NP_001381795.1:p.Asp359Gly, XP_047298577.1:p.Asp407Gly, XP_047298580.1:p.Asp359Gly

                8.

                rs1462573763 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  X:117909956 (GRCh38)
                  X:117043919 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:117909955:A:G,NC_000023.11:117909955:A:T
                  Gene:
                  KLHL13 (Varview)
                  Functional Consequence:
                  synonymous_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  T=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000023.11:g.117909956A>G, NC_000023.11:g.117909956A>T, NC_000023.10:g.117043919A>G, NC_000023.10:g.117043919A>T, NG_016759.1:g.212385T>C, NG_016759.1:g.212385T>A, NM_033495.3:c.711T>C, NM_033495.3:c.711T>A, NM_033495.4:c.711T>C, NM_033495.4:c.711T>A, NM_001168302.2:c.663T>C, NM_001168302.2:c.663T>A, NM_001168302.1:c.663T>C, NM_001168302.1:c.663T>A, NM_001168303.2:c.585T>C, NM_001168303.2:c.585T>A, NM_001168303.4:c.558T>C, NM_001168303.4:c.558T>A, NM_001168303.3:c.585T>C, NM_001168303.3:c.585T>A, NM_001168303.1:c.585T>C, NM_001168303.1:c.585T>A, NM_001168299.2:c.720T>C, NM_001168299.2:c.720T>A, NM_001168299.1:c.720T>C, NM_001168299.1:c.720T>A, NM_001168301.2:c.663T>C, NM_001168301.2:c.663T>A, NM_001168301.1:c.663T>C, NM_001168301.1:c.663T>A, NM_001168300.1:c.693T>C, NM_001168300.1:c.693T>A, NM_001168300.2:c.693T>C, NM_001168300.2:c.693T>A, XM_011531409.4:c.729T>C, XM_011531409.4:c.729T>A, XM_011531409.3:c.729T>C, XM_011531409.3:c.729T>A, XM_011531409.2:c.729T>C, XM_011531409.2:c.729T>A, XM_011531409.1:c.729T>C, XM_011531409.1:c.729T>A, XM_011531410.4:c.729T>C, XM_011531410.4:c.729T>A, XM_011531410.3:c.729T>C, XM_011531410.3:c.729T>A, XM_011531410.2:c.729T>C, XM_011531410.2:c.729T>A, XM_011531410.1:c.729T>C, XM_011531410.1:c.729T>A, NM_001394865.3:c.558T>C, NM_001394865.3:c.558T>A, NM_001394865.2:c.585T>C, NM_001394865.2:c.585T>A, XM_047442623.1:c.585T>C, XM_047442623.1:c.585T>A, XM_047442622.1:c.663T>C, XM_047442622.1:c.663T>A, NM_001394863.1:c.711T>C, NM_001394863.1:c.711T>A, NM_001394864.1:c.693T>C, NM_001394864.1:c.693T>A, NM_001394865.1:c.585T>C, NM_001394865.1:c.585T>A, XM_047442625.1:c.585T>C, XM_047442625.1:c.585T>A, NM_001394866.1:c.585T>C, NM_001394866.1:c.585T>A, XM_047442621.1:c.729T>C, XM_047442621.1:c.729T>A, XM_047442624.1:c.585T>C, XM_047442624.1:c.585T>A, NP_277030.2:p.Phe237Leu, NP_001161774.1:p.Phe221Leu, NP_001161775.2:p.Phe186Leu, NP_001161771.1:p.Phe240Leu, NP_001161773.1:p.Phe221Leu, NP_001161772.1:p.Phe231Leu, XP_011529711.1:p.Phe243Leu, XP_011529712.1:p.Phe243Leu, XP_047298579.1:p.Phe195Leu, XP_047298578.1:p.Phe221Leu, NP_001381792.1:p.Phe237Leu, NP_001381793.1:p.Phe231Leu, XP_047298581.1:p.Phe195Leu, NP_001381795.1:p.Phe195Leu, XP_047298577.1:p.Phe243Leu, XP_047298580.1:p.Phe195Leu

                  9.

                  rs1461003477 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:117919571 (GRCh38)
                    X:117053534 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:117919570:G:A
                    Gene:
                    KLHL13 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000023.11:g.117919571G>A, NC_000023.10:g.117053534G>A, NG_016759.1:g.202770C>T, NM_033495.3:c.520C>T, NM_033495.4:c.520C>T, NM_001168302.2:c.472C>T, NM_001168302.1:c.472C>T, NM_001168303.2:c.394C>T, NM_001168303.4:c.367C>T, NM_001168303.3:c.394C>T, NM_001168303.1:c.394C>T, NM_001168299.2:c.529C>T, NM_001168299.1:c.529C>T, NM_001168301.2:c.472C>T, NM_001168301.1:c.472C>T, NM_001168300.1:c.502C>T, NM_001168300.2:c.502C>T, XM_011531409.4:c.538C>T, XM_011531409.3:c.538C>T, XM_011531409.2:c.538C>T, XM_011531409.1:c.538C>T, XM_011531410.4:c.538C>T, XM_011531410.3:c.538C>T, XM_011531410.2:c.538C>T, XM_011531410.1:c.538C>T, NM_001394865.3:c.367C>T, NM_001394865.2:c.394C>T, XM_047442623.1:c.394C>T, XM_047442622.1:c.472C>T, NM_001394863.1:c.520C>T, NM_001394864.1:c.502C>T, NM_001394865.1:c.394C>T, XM_047442625.1:c.394C>T, NM_001394866.1:c.394C>T, XM_047442621.1:c.538C>T, XM_047442624.1:c.394C>T

                    10.

                    rs1456143835 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      X:117899002 (GRCh38)
                      X:117032965 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:117899001:G:C
                      Gene:
                      KLHL13 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.00001/1 (GnomAD)
                      HGVS:
                      NC_000023.11:g.117899002G>C, NC_000023.10:g.117032965G>C, NG_016759.1:g.223339C>G, NM_033495.3:c.1874C>G, NM_033495.4:c.1874C>G, NM_001168302.2:c.1826C>G, NM_001168302.1:c.1826C>G, NM_001168303.2:c.1748C>G, NM_001168303.4:c.1721C>G, NM_001168303.3:c.1748C>G, NM_001168303.1:c.1748C>G, NM_001168299.2:c.1883C>G, NM_001168299.1:c.1883C>G, NM_001168301.2:c.1826C>G, NM_001168301.1:c.1826C>G, NM_001168300.1:c.1856C>G, NM_001168300.2:c.1856C>G, XM_011531409.4:c.1892C>G, XM_011531409.3:c.1892C>G, XM_011531409.2:c.1892C>G, XM_011531409.1:c.1892C>G, XM_011531410.4:c.1892C>G, XM_011531410.3:c.1892C>G, XM_011531410.2:c.1892C>G, XM_011531410.1:c.1892C>G, NM_001394865.3:c.1721C>G, NM_001394865.2:c.1748C>G, XM_047442623.1:c.1748C>G, XM_047442622.1:c.1826C>G, NM_001394863.1:c.1874C>G, NM_001394864.1:c.1847C>G, NM_001394865.1:c.1748C>G, XM_047442625.1:c.1748C>G, NM_001394866.1:c.1739C>G, XM_047442621.1:c.1892C>G, XM_047442624.1:c.1748C>G, NP_277030.2:p.Ser625Cys, NP_001161774.1:p.Ser609Cys, NP_001161775.2:p.Ser574Cys, NP_001161771.1:p.Ser628Cys, NP_001161773.1:p.Ser609Cys, NP_001161772.1:p.Ser619Cys, XP_011529711.1:p.Ser631Cys, XP_011529712.1:p.Ser631Cys, XP_047298579.1:p.Ser583Cys, XP_047298578.1:p.Ser609Cys, NP_001381792.1:p.Ser625Cys, NP_001381793.1:p.Ser616Cys, XP_047298581.1:p.Ser583Cys, NP_001381795.1:p.Ser580Cys, XP_047298577.1:p.Ser631Cys, XP_047298580.1:p.Ser583Cys

                      11.

                      rs1453620324 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        X:117909646 (GRCh38)
                        X:117043609 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:117909645:G:A,NC_000023.11:117909645:G:T
                        Gene:
                        KLHL13 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000023.11:g.117909646G>A, NC_000023.11:g.117909646G>T, NC_000023.10:g.117043609G>A, NC_000023.10:g.117043609G>T, NG_016759.1:g.212695C>T, NG_016759.1:g.212695C>A, NM_033495.3:c.1021C>T, NM_033495.3:c.1021C>A, NM_033495.4:c.1021C>T, NM_033495.4:c.1021C>A, NM_001168302.2:c.973C>T, NM_001168302.2:c.973C>A, NM_001168302.1:c.973C>T, NM_001168302.1:c.973C>A, NM_001168303.2:c.895C>T, NM_001168303.2:c.895C>A, NM_001168303.4:c.868C>T, NM_001168303.4:c.868C>A, NM_001168303.3:c.895C>T, NM_001168303.3:c.895C>A, NM_001168303.1:c.895C>T, NM_001168303.1:c.895C>A, NM_001168299.2:c.1030C>T, NM_001168299.2:c.1030C>A, NM_001168299.1:c.1030C>T, NM_001168299.1:c.1030C>A, NM_001168301.2:c.973C>T, NM_001168301.2:c.973C>A, NM_001168301.1:c.973C>T, NM_001168301.1:c.973C>A, NM_001168300.1:c.1003C>T, NM_001168300.1:c.1003C>A, NM_001168300.2:c.1003C>T, NM_001168300.2:c.1003C>A, XM_011531409.4:c.1039C>T, XM_011531409.4:c.1039C>A, XM_011531409.3:c.1039C>T, XM_011531409.3:c.1039C>A, XM_011531409.2:c.1039C>T, XM_011531409.2:c.1039C>A, XM_011531409.1:c.1039C>T, XM_011531409.1:c.1039C>A, XM_011531410.4:c.1039C>T, XM_011531410.4:c.1039C>A, XM_011531410.3:c.1039C>T, XM_011531410.3:c.1039C>A, XM_011531410.2:c.1039C>T, XM_011531410.2:c.1039C>A, XM_011531410.1:c.1039C>T, XM_011531410.1:c.1039C>A, NM_001394865.3:c.868C>T, NM_001394865.3:c.868C>A, NM_001394865.2:c.895C>T, NM_001394865.2:c.895C>A, XM_047442623.1:c.895C>T, XM_047442623.1:c.895C>A, XM_047442622.1:c.973C>T, XM_047442622.1:c.973C>A, NM_001394863.1:c.1021C>T, NM_001394863.1:c.1021C>A, NM_001394864.1:c.1003C>T, NM_001394864.1:c.1003C>A, NM_001394865.1:c.895C>T, NM_001394865.1:c.895C>A, XM_047442625.1:c.895C>T, XM_047442625.1:c.895C>A, NM_001394866.1:c.895C>T, NM_001394866.1:c.895C>A, XM_047442621.1:c.1039C>T, XM_047442621.1:c.1039C>A, XM_047442624.1:c.895C>T, XM_047442624.1:c.895C>A, NP_277030.2:p.His341Tyr, NP_277030.2:p.His341Asn, NP_001161774.1:p.His325Tyr, NP_001161774.1:p.His325Asn, NP_001161775.2:p.His290Tyr, NP_001161775.2:p.His290Asn, NP_001161771.1:p.His344Tyr, NP_001161771.1:p.His344Asn, NP_001161773.1:p.His325Tyr, NP_001161773.1:p.His325Asn, NP_001161772.1:p.His335Tyr, NP_001161772.1:p.His335Asn, XP_011529711.1:p.His347Tyr, XP_011529711.1:p.His347Asn, XP_011529712.1:p.His347Tyr, XP_011529712.1:p.His347Asn, XP_047298579.1:p.His299Tyr, XP_047298579.1:p.His299Asn, XP_047298578.1:p.His325Tyr, XP_047298578.1:p.His325Asn, NP_001381792.1:p.His341Tyr, NP_001381792.1:p.His341Asn, NP_001381793.1:p.His335Tyr, NP_001381793.1:p.His335Asn, XP_047298581.1:p.His299Tyr, XP_047298581.1:p.His299Asn, NP_001381795.1:p.His299Tyr, NP_001381795.1:p.His299Asn, XP_047298577.1:p.His347Tyr, XP_047298577.1:p.His347Asn, XP_047298580.1:p.His299Tyr, XP_047298580.1:p.His299Asn

                        12.

                        rs1453157722 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          X:117972825 (GRCh38)
                          X:117106788 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:117972824:G:C,NC_000023.11:117972824:G:T
                          Gene:
                          KLHL13 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.00001/1 (GnomAD)
                          HGVS:

                          13.

                          rs1451543609 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            X:117901882 (GRCh38)
                            X:117035845 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:117901881:G:T
                            Gene:
                            KLHL13 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.117901882G>T, NC_000023.10:g.117035845G>T, NG_016759.1:g.220459C>A, NM_033495.3:c.1431C>A, NM_033495.4:c.1431C>A, NM_001168302.2:c.1383C>A, NM_001168302.1:c.1383C>A, NM_001168303.2:c.1305C>A, NM_001168303.4:c.1278C>A, NM_001168303.3:c.1305C>A, NM_001168303.1:c.1305C>A, NM_001168299.2:c.1440C>A, NM_001168299.1:c.1440C>A, NM_001168301.2:c.1383C>A, NM_001168301.1:c.1383C>A, NM_001168300.1:c.1413C>A, NM_001168300.2:c.1413C>A, XM_011531409.4:c.1449C>A, XM_011531409.3:c.1449C>A, XM_011531409.2:c.1449C>A, XM_011531409.1:c.1449C>A, XM_011531410.4:c.1449C>A, XM_011531410.3:c.1449C>A, XM_011531410.2:c.1449C>A, XM_011531410.1:c.1449C>A, NM_001394865.3:c.1278C>A, NM_001394865.2:c.1305C>A, XM_047442623.1:c.1305C>A, XM_047442622.1:c.1383C>A, NM_001394863.1:c.1431C>A, NM_001394864.1:c.1404C>A, NM_001394865.1:c.1305C>A, XM_047442625.1:c.1305C>A, NM_001394866.1:c.1296C>A, XM_047442621.1:c.1449C>A, XM_047442624.1:c.1305C>A

                            14.

                            rs1450688096 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:117909548 (GRCh38)
                              X:117043511 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:117909547:G:A
                              Gene:
                              KLHL13 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000023.11:g.117909548G>A, NC_000023.10:g.117043511G>A, NG_016759.1:g.212793C>T, NM_033495.3:c.1119C>T, NM_033495.4:c.1119C>T, NM_001168302.2:c.1071C>T, NM_001168302.1:c.1071C>T, NM_001168303.2:c.993C>T, NM_001168303.4:c.966C>T, NM_001168303.3:c.993C>T, NM_001168303.1:c.993C>T, NM_001168299.2:c.1128C>T, NM_001168299.1:c.1128C>T, NM_001168301.2:c.1071C>T, NM_001168301.1:c.1071C>T, NM_001168300.1:c.1101C>T, NM_001168300.2:c.1101C>T, XM_011531409.4:c.1137C>T, XM_011531409.3:c.1137C>T, XM_011531409.2:c.1137C>T, XM_011531409.1:c.1137C>T, XM_011531410.4:c.1137C>T, XM_011531410.3:c.1137C>T, XM_011531410.2:c.1137C>T, XM_011531410.1:c.1137C>T, NM_001394865.3:c.966C>T, NM_001394865.2:c.993C>T, XM_047442623.1:c.993C>T, XM_047442622.1:c.1071C>T, NM_001394863.1:c.1119C>T, NM_001394864.1:c.1101C>T, NM_001394865.1:c.993C>T, XM_047442625.1:c.993C>T, NM_001394866.1:c.993C>T, XM_047442621.1:c.1137C>T, XM_047442624.1:c.993C>T

                              15.

                              rs1444718191 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                X:117909624 (GRCh38)
                                X:117043587 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:117909623:A:
                                Gene:
                                KLHL13 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant
                                HGVS:
                                NC_000023.11:g.117909624del, NC_000023.10:g.117043587del, NG_016759.1:g.212717del, NM_033495.3:c.1043del, NM_033495.4:c.1043del, NM_001168302.2:c.995del, NM_001168302.1:c.995del, NM_001168303.2:c.917del, NM_001168303.4:c.890del, NM_001168303.3:c.917del, NM_001168303.1:c.917del, NM_001168299.2:c.1052del, NM_001168299.1:c.1052del, NM_001168301.2:c.995del, NM_001168301.1:c.995del, NM_001168300.1:c.1025del, NM_001168300.2:c.1025del, XM_011531409.4:c.1061del, XM_011531409.3:c.1061del, XM_011531409.2:c.1061del, XM_011531409.1:c.1061del, XM_011531410.4:c.1061del, XM_011531410.3:c.1061del, XM_011531410.2:c.1061del, XM_011531410.1:c.1061del, NM_001394865.3:c.890del, NM_001394865.2:c.917del, XM_047442623.1:c.917del, XM_047442622.1:c.995del, NM_001394863.1:c.1043del, NM_001394864.1:c.1025del, NM_001394865.1:c.917del, XM_047442625.1:c.917del, NM_001394866.1:c.917del, XM_047442621.1:c.1061del, XM_047442624.1:c.917del, NP_277030.2:p.Val348fs, NP_001161774.1:p.Val332fs, NP_001161775.2:p.Val297fs, NP_001161771.1:p.Val351fs, NP_001161773.1:p.Val332fs, NP_001161772.1:p.Val342fs, XP_011529711.1:p.Val354fs, XP_011529712.1:p.Val354fs, XP_047298579.1:p.Val306fs, XP_047298578.1:p.Val332fs, NP_001381792.1:p.Val348fs, NP_001381793.1:p.Val342fs, XP_047298581.1:p.Val306fs, NP_001381795.1:p.Val306fs, XP_047298577.1:p.Val354fs, XP_047298580.1:p.Val306fs

                                16.

                                rs1444630417 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  X:117919532 (GRCh38)
                                  X:117053495 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:117919531:G:C
                                  Gene:
                                  KLHL13 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000019/2 (GnomAD)
                                  C=0.000053/14 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.117919532G>C, NC_000023.10:g.117053495G>C, NG_016759.1:g.202809C>G, NM_033495.3:c.559C>G, NM_033495.4:c.559C>G, NM_001168302.2:c.511C>G, NM_001168302.1:c.511C>G, NM_001168303.2:c.433C>G, NM_001168303.4:c.406C>G, NM_001168303.3:c.433C>G, NM_001168303.1:c.433C>G, NM_001168299.2:c.568C>G, NM_001168299.1:c.568C>G, NM_001168301.2:c.511C>G, NM_001168301.1:c.511C>G, NM_001168300.1:c.541C>G, NM_001168300.2:c.541C>G, XM_011531409.4:c.577C>G, XM_011531409.3:c.577C>G, XM_011531409.2:c.577C>G, XM_011531409.1:c.577C>G, XM_011531410.4:c.577C>G, XM_011531410.3:c.577C>G, XM_011531410.2:c.577C>G, XM_011531410.1:c.577C>G, NM_001394865.3:c.406C>G, NM_001394865.2:c.433C>G, XM_047442623.1:c.433C>G, XM_047442622.1:c.511C>G, NM_001394863.1:c.559C>G, NM_001394864.1:c.541C>G, NM_001394865.1:c.433C>G, XM_047442625.1:c.433C>G, NM_001394866.1:c.433C>G, XM_047442621.1:c.577C>G, XM_047442624.1:c.433C>G, NP_277030.2:p.Leu187Val, NP_001161774.1:p.Leu171Val, NP_001161775.2:p.Leu136Val, NP_001161771.1:p.Leu190Val, NP_001161773.1:p.Leu171Val, NP_001161772.1:p.Leu181Val, XP_011529711.1:p.Leu193Val, XP_011529712.1:p.Leu193Val, XP_047298579.1:p.Leu145Val, XP_047298578.1:p.Leu171Val, NP_001381792.1:p.Leu187Val, NP_001381793.1:p.Leu181Val, XP_047298581.1:p.Leu145Val, NP_001381795.1:p.Leu145Val, XP_047298577.1:p.Leu193Val, XP_047298580.1:p.Leu145Val

                                  17.

                                  rs1444526655 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    X:117909756 (GRCh38)
                                    X:117043719 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:117909755:G:A
                                    Gene:
                                    KLHL13 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000023.11:g.117909756G>A, NC_000023.10:g.117043719G>A, NG_016759.1:g.212585C>T, NM_033495.3:c.911C>T, NM_033495.4:c.911C>T, NM_001168302.2:c.863C>T, NM_001168302.1:c.863C>T, NM_001168303.2:c.785C>T, NM_001168303.4:c.758C>T, NM_001168303.3:c.785C>T, NM_001168303.1:c.785C>T, NM_001168299.2:c.920C>T, NM_001168299.1:c.920C>T, NM_001168301.2:c.863C>T, NM_001168301.1:c.863C>T, NM_001168300.1:c.893C>T, NM_001168300.2:c.893C>T, XM_011531409.4:c.929C>T, XM_011531409.3:c.929C>T, XM_011531409.2:c.929C>T, XM_011531409.1:c.929C>T, XM_011531410.4:c.929C>T, XM_011531410.3:c.929C>T, XM_011531410.2:c.929C>T, XM_011531410.1:c.929C>T, NM_001394865.3:c.758C>T, NM_001394865.2:c.785C>T, XM_047442623.1:c.785C>T, XM_047442622.1:c.863C>T, NM_001394863.1:c.911C>T, NM_001394864.1:c.893C>T, NM_001394865.1:c.785C>T, XM_047442625.1:c.785C>T, NM_001394866.1:c.785C>T, XM_047442621.1:c.929C>T, XM_047442624.1:c.785C>T, NP_277030.2:p.Thr304Ile, NP_001161774.1:p.Thr288Ile, NP_001161775.2:p.Thr253Ile, NP_001161771.1:p.Thr307Ile, NP_001161773.1:p.Thr288Ile, NP_001161772.1:p.Thr298Ile, XP_011529711.1:p.Thr310Ile, XP_011529712.1:p.Thr310Ile, XP_047298579.1:p.Thr262Ile, XP_047298578.1:p.Thr288Ile, NP_001381792.1:p.Thr304Ile, NP_001381793.1:p.Thr298Ile, XP_047298581.1:p.Thr262Ile, NP_001381795.1:p.Thr262Ile, XP_047298577.1:p.Thr310Ile, XP_047298580.1:p.Thr262Ile

                                    18.

                                    rs1440730739 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:117919684 (GRCh38)
                                      X:117053647 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:117919683:T:C
                                      Gene:
                                      KLHL13 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.117919684T>C, NC_000023.10:g.117053647T>C, NG_016759.1:g.202657A>G, NM_033495.3:c.407A>G, NM_033495.4:c.407A>G, NM_001168302.2:c.359A>G, NM_001168302.1:c.359A>G, NM_001168303.2:c.281A>G, NM_001168303.4:c.254A>G, NM_001168303.3:c.281A>G, NM_001168303.1:c.281A>G, NM_001168299.2:c.416A>G, NM_001168299.1:c.416A>G, NM_001168301.2:c.359A>G, NM_001168301.1:c.359A>G, NM_001168300.1:c.389A>G, NM_001168300.2:c.389A>G, XM_011531409.4:c.425A>G, XM_011531409.3:c.425A>G, XM_011531409.2:c.425A>G, XM_011531409.1:c.425A>G, XM_011531410.4:c.425A>G, XM_011531410.3:c.425A>G, XM_011531410.2:c.425A>G, XM_011531410.1:c.425A>G, NM_001394865.3:c.254A>G, NM_001394865.2:c.281A>G, XM_047442623.1:c.281A>G, XM_047442622.1:c.359A>G, NM_001394863.1:c.407A>G, NM_001394864.1:c.389A>G, NM_001394865.1:c.281A>G, XM_047442625.1:c.281A>G, NM_001394866.1:c.281A>G, XM_047442621.1:c.425A>G, XM_047442624.1:c.281A>G, NP_277030.2:p.Lys136Arg, NP_001161774.1:p.Lys120Arg, NP_001161775.2:p.Lys85Arg, NP_001161771.1:p.Lys139Arg, NP_001161773.1:p.Lys120Arg, NP_001161772.1:p.Lys130Arg, XP_011529711.1:p.Lys142Arg, XP_011529712.1:p.Lys142Arg, XP_047298579.1:p.Lys94Arg, XP_047298578.1:p.Lys120Arg, NP_001381792.1:p.Lys136Arg, NP_001381793.1:p.Lys130Arg, XP_047298581.1:p.Lys94Arg, NP_001381795.1:p.Lys94Arg, XP_047298577.1:p.Lys142Arg, XP_047298580.1:p.Lys94Arg

                                      19.

                                      rs1431986413 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        X:117898943 (GRCh38)
                                        X:117032906 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:117898942:A:G
                                        Gene:
                                        KLHL13 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000023.11:g.117898943A>G, NC_000023.10:g.117032906A>G, NG_016759.1:g.223398T>C, NM_033495.3:c.1933T>C, NM_033495.4:c.1933T>C, NM_001168302.2:c.1885T>C, NM_001168302.1:c.1885T>C, NM_001168303.2:c.1807T>C, NM_001168303.4:c.1780T>C, NM_001168303.3:c.1807T>C, NM_001168303.1:c.1807T>C, NM_001168299.2:c.1942T>C, NM_001168299.1:c.1942T>C, NM_001168301.2:c.1885T>C, NM_001168301.1:c.1885T>C, NM_001168300.1:c.1915T>C, NM_001168300.2:c.1915T>C, XM_011531409.4:c.1951T>C, XM_011531409.3:c.1951T>C, XM_011531409.2:c.1951T>C, XM_011531409.1:c.1951T>C, XM_011531410.4:c.1951T>C, XM_011531410.3:c.1951T>C, XM_011531410.2:c.1951T>C, XM_011531410.1:c.1951T>C, NM_001394865.3:c.1780T>C, NM_001394865.2:c.1807T>C, XM_047442623.1:c.1807T>C, XM_047442622.1:c.1885T>C, NM_001394863.1:c.1933T>C, NM_001394864.1:c.1906T>C, NM_001394865.1:c.1807T>C, XM_047442625.1:c.1807T>C, NM_001394866.1:c.1798T>C, XM_047442621.1:c.1951T>C, XM_047442624.1:c.1807T>C, NP_277030.2:p.Ser645Pro, NP_001161774.1:p.Ser629Pro, NP_001161775.2:p.Ser594Pro, NP_001161771.1:p.Ser648Pro, NP_001161773.1:p.Ser629Pro, NP_001161772.1:p.Ser639Pro, XP_011529711.1:p.Ser651Pro, XP_011529712.1:p.Ser651Pro, XP_047298579.1:p.Ser603Pro, XP_047298578.1:p.Ser629Pro, NP_001381792.1:p.Ser645Pro, NP_001381793.1:p.Ser636Pro, XP_047298581.1:p.Ser603Pro, NP_001381795.1:p.Ser600Pro, XP_047298577.1:p.Ser651Pro, XP_047298580.1:p.Ser603Pro

                                        20.

                                        rs1431219924 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          X:117899371 (GRCh38)
                                          X:117033334 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:117899370:T:A
                                          Gene:
                                          KLHL13 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.117899371T>A, NC_000023.10:g.117033334T>A, NG_016759.1:g.222970A>T, NM_033495.3:c.1505A>T, NM_033495.4:c.1505A>T, NM_001168302.2:c.1457A>T, NM_001168302.1:c.1457A>T, NM_001168303.2:c.1379A>T, NM_001168303.4:c.1352A>T, NM_001168303.3:c.1379A>T, NM_001168303.1:c.1379A>T, NM_001168299.2:c.1514A>T, NM_001168299.1:c.1514A>T, NM_001168301.2:c.1457A>T, NM_001168301.1:c.1457A>T, NM_001168300.1:c.1487A>T, NM_001168300.2:c.1487A>T, XM_011531409.4:c.1523A>T, XM_011531409.3:c.1523A>T, XM_011531409.2:c.1523A>T, XM_011531409.1:c.1523A>T, XM_011531410.4:c.1523A>T, XM_011531410.3:c.1523A>T, XM_011531410.2:c.1523A>T, XM_011531410.1:c.1523A>T, NM_001394865.3:c.1352A>T, NM_001394865.2:c.1379A>T, XM_047442623.1:c.1379A>T, XM_047442622.1:c.1457A>T, NM_001394863.1:c.1505A>T, NM_001394864.1:c.1478A>T, NM_001394865.1:c.1379A>T, XM_047442625.1:c.1379A>T, NM_001394866.1:c.1370A>T, XM_047442621.1:c.1523A>T, XM_047442624.1:c.1379A>T, NP_277030.2:p.Gln502Leu, NP_001161774.1:p.Gln486Leu, NP_001161775.2:p.Gln451Leu, NP_001161771.1:p.Gln505Leu, NP_001161773.1:p.Gln486Leu, NP_001161772.1:p.Gln496Leu, XP_011529711.1:p.Gln508Leu, XP_011529712.1:p.Gln508Leu, XP_047298579.1:p.Gln460Leu, XP_047298578.1:p.Gln486Leu, NP_001381792.1:p.Gln502Leu, NP_001381793.1:p.Gln493Leu, XP_047298581.1:p.Gln460Leu, NP_001381795.1:p.Gln457Leu, XP_047298577.1:p.Gln508Leu, XP_047298580.1:p.Gln460Leu

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