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Items: 1 to 20 of 478

1.

rs1489239767 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:47577555 (GRCh38)
    11:47599107 (GRCh37)
    Canonical SPDI:
    NC_000011.10:47577554:G:A
    Gene:
    NDUFS3 (Varview), KBTBD4 (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000111/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.47577555G>A, NC_000011.9:g.47599107G>A, NG_011946.2:g.3546G>A, NW_019805496.1:g.5381G>A, NM_016506.7:c.445C>T, NM_016506.6:c.445C>T, NM_016506.5:c.445C>T, NM_018095.6:c.493C>T, NM_018095.5:c.493C>T, NM_018095.4:c.493C>T, NM_001318716.2:c.592C>T, NM_001318716.1:c.592C>T, NM_001318724.2:c.445C>T, NM_001318724.1:c.445C>T, NM_001318723.2:c.445C>T, NM_001318723.1:c.445C>T, NM_001318717.2:c.562C>T, NM_001318717.1:c.562C>T, NM_001318725.2:c.445C>T, NM_001318725.1:c.445C>T, NM_001318718.2:c.520C>T, NM_001318718.1:c.520C>T, NM_001318719.2:c.520C>T, NM_001318719.1:c.520C>T, NM_001318722.2:c.445C>T, NM_001318722.1:c.445C>T, NM_001318720.2:c.514C>T, NM_001318720.1:c.514C>T, NM_001318721.2:c.445C>T, NM_001318721.1:c.445C>T, NR_024222.1:n.553C>T, NP_057590.3:p.Gln149Ter, NP_060565.4:p.Gln165Ter, NP_001305645.1:p.Gln198Ter, NP_001305653.1:p.Gln149Ter, NP_001305652.1:p.Gln149Ter, NP_001305646.1:p.Gln188Ter, NP_001305654.1:p.Gln149Ter, NP_001305647.1:p.Gln174Ter, NP_001305648.1:p.Gln174Ter, NP_001305651.1:p.Gln149Ter, NP_001305649.1:p.Gln172Ter, NP_001305650.1:p.Gln149Ter

    2.

    rs1488259580 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      11:47575637 (GRCh38)
      11:47597189 (GRCh37)
      Canonical SPDI:
      NC_000011.10:47575636:C:G
      Gene:
      KBTBD4 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0./0 (GnomAD)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.47575637C>G, NC_000011.9:g.47597189C>G, NG_011946.2:g.1628C>G, NW_019805496.1:g.3463C>G, NM_016506.7:c.652G>C, NM_016506.6:c.652G>C, NM_016506.5:c.652G>C, NM_018095.6:c.700G>C, NM_018095.5:c.700G>C, NM_018095.4:c.700G>C, NM_001318716.2:c.799G>C, NM_001318716.1:c.799G>C, NM_001318724.2:c.652G>C, NM_001318724.1:c.652G>C, NM_001318723.2:c.652G>C, NM_001318723.1:c.652G>C, NM_001318717.2:c.769G>C, NM_001318717.1:c.769G>C, NM_001318725.2:c.652G>C, NM_001318725.1:c.652G>C, NM_001318718.2:c.727G>C, NM_001318718.1:c.727G>C, NM_001318719.2:c.727G>C, NM_001318719.1:c.727G>C, NM_001318720.2:c.721G>C, NM_001318720.1:c.721G>C, NM_001318722.2:c.652G>C, NM_001318722.1:c.652G>C, NM_001318721.2:c.652G>C, NM_001318721.1:c.652G>C, NR_024222.1:n.760G>C, NP_057590.3:p.Glu218Gln, NP_060565.4:p.Glu234Gln, NP_001305645.1:p.Glu267Gln, NP_001305653.1:p.Glu218Gln, NP_001305652.1:p.Glu218Gln, NP_001305646.1:p.Glu257Gln, NP_001305654.1:p.Glu218Gln, NP_001305647.1:p.Glu243Gln, NP_001305648.1:p.Glu243Gln, NP_001305649.1:p.Glu241Gln, NP_001305651.1:p.Glu218Gln, NP_001305650.1:p.Glu218Gln

      3.

      rs1485827376 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:47573122 (GRCh38)
        11:47594674 (GRCh37)
        Canonical SPDI:
        NC_000011.10:47573121:G:A
        Gene:
        KBTBD4 (Varview), PTPMT1 (Varview)
        Functional Consequence:
        coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.47573122G>A, NC_000011.9:g.47594674G>A, NW_019805496.1:g.948G>A, NM_016506.7:c.1365C>T, NM_016506.6:c.1365C>T, NM_016506.5:c.1365C>T, NM_018095.6:c.1413C>T, NM_018095.5:c.1413C>T, NM_018095.4:c.1413C>T, NM_175732.3:c.*1493G>A, NM_175732.2:c.*1493G>A, NM_001318723.2:c.1365C>T, NM_001318723.1:c.1365C>T, NM_001318717.2:c.1482C>T, NM_001318717.1:c.1482C>T, NM_001318716.2:c.1512C>T, NM_001318716.1:c.1512C>T, NM_001318724.2:c.1365C>T, NM_001318724.1:c.1365C>T, NM_001318725.2:c.1365C>T, NM_001318725.1:c.1365C>T, NM_001318718.2:c.1440C>T, NM_001318718.1:c.1440C>T, NM_001318719.2:c.1440C>T, NM_001318719.1:c.1440C>T, NM_001143984.2:c.*1560G>A, NM_001143984.1:c.*1560G>A, NM_001318720.2:c.1434C>T, NM_001318720.1:c.1434C>T, NM_001318722.2:c.1365C>T, NM_001318722.1:c.1365C>T, NM_001318721.2:c.1365C>T, NM_001318721.1:c.1365C>T, NR_024222.1:n.1473C>T

        4.

        rs1478886748 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          11:47577818 (GRCh38)
          11:47599370 (GRCh37)
          Canonical SPDI:
          NC_000011.10:47577817:A:C
          Gene:
          NDUFS3 (Varview), KBTBD4 (Varview)
          Functional Consequence:
          upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000011.10:g.47577818A>C, NC_000011.9:g.47599370A>C, NG_011946.2:g.3809A>C, NW_019805496.1:g.5644A>C, NM_016506.7:c.182T>G, NM_016506.6:c.182T>G, NM_016506.5:c.182T>G, NM_018095.6:c.230T>G, NM_018095.5:c.230T>G, NM_018095.4:c.230T>G, NM_001318716.2:c.329T>G, NM_001318716.1:c.329T>G, NM_001318724.2:c.182T>G, NM_001318724.1:c.182T>G, NM_001318723.2:c.182T>G, NM_001318723.1:c.182T>G, NM_001318717.2:c.299T>G, NM_001318717.1:c.299T>G, NM_001318725.2:c.182T>G, NM_001318725.1:c.182T>G, NM_001318718.2:c.257T>G, NM_001318718.1:c.257T>G, NM_001318719.2:c.257T>G, NM_001318719.1:c.257T>G, NM_001318720.2:c.251T>G, NM_001318720.1:c.251T>G, NM_001318722.2:c.182T>G, NM_001318722.1:c.182T>G, NM_001318721.2:c.182T>G, NM_001318721.1:c.182T>G, NR_024222.1:n.290T>G, NP_057590.3:p.Leu61Arg, NP_060565.4:p.Leu77Arg, NP_001305645.1:p.Leu110Arg, NP_001305653.1:p.Leu61Arg, NP_001305652.1:p.Leu61Arg, NP_001305646.1:p.Leu100Arg, NP_001305654.1:p.Leu61Arg, NP_001305647.1:p.Leu86Arg, NP_001305648.1:p.Leu86Arg, NP_001305649.1:p.Leu84Arg, NP_001305651.1:p.Leu61Arg, NP_001305650.1:p.Leu61Arg

          5.

          rs1476695065 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:47573481 (GRCh38)
            11:47595033 (GRCh37)
            Canonical SPDI:
            NC_000011.10:47573480:C:T
            Gene:
            KBTBD4 (Varview), PTPMT1 (Varview)
            Functional Consequence:
            missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.47573481C>T, NC_000011.9:g.47595033C>T, NW_019805496.1:g.1307C>T, NM_016506.7:c.1006G>A, NM_016506.6:c.1006G>A, NM_016506.5:c.1006G>A, NM_018095.6:c.1054G>A, NM_018095.5:c.1054G>A, NM_018095.4:c.1054G>A, NM_001318716.2:c.1153G>A, NM_001318716.1:c.1153G>A, NM_001318724.2:c.1006G>A, NM_001318724.1:c.1006G>A, NM_001318723.2:c.1006G>A, NM_001318723.1:c.1006G>A, NM_001318717.2:c.1123G>A, NM_001318717.1:c.1123G>A, NM_001318725.2:c.1006G>A, NM_001318725.1:c.1006G>A, NM_001318718.2:c.1081G>A, NM_001318718.1:c.1081G>A, NM_001318719.2:c.1081G>A, NM_001318719.1:c.1081G>A, NM_001318720.2:c.1075G>A, NM_001318720.1:c.1075G>A, NM_001318722.2:c.1006G>A, NM_001318722.1:c.1006G>A, NM_001318721.2:c.1006G>A, NM_001318721.1:c.1006G>A, NR_024222.1:n.1114G>A, NP_057590.3:p.Gly336Ser, NP_060565.4:p.Gly352Ser, NP_001305645.1:p.Gly385Ser, NP_001305653.1:p.Gly336Ser, NP_001305652.1:p.Gly336Ser, NP_001305646.1:p.Gly375Ser, NP_001305654.1:p.Gly336Ser, NP_001305647.1:p.Gly361Ser, NP_001305648.1:p.Gly361Ser, NP_001305649.1:p.Gly359Ser, NP_001305651.1:p.Gly336Ser, NP_001305650.1:p.Gly336Ser

            6.

            rs1475762642 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:47573134 (GRCh38)
              11:47594686 (GRCh37)
              Canonical SPDI:
              NC_000011.10:47573133:G:A
              Gene:
              KBTBD4 (Varview), PTPMT1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.47573134G>A, NC_000011.9:g.47594686G>A, NW_019805496.1:g.960G>A, NM_016506.7:c.1353C>T, NM_016506.6:c.1353C>T, NM_016506.5:c.1353C>T, NM_018095.6:c.1401C>T, NM_018095.5:c.1401C>T, NM_018095.4:c.1401C>T, NM_175732.3:c.*1505G>A, NM_175732.2:c.*1505G>A, NM_001318723.2:c.1353C>T, NM_001318723.1:c.1353C>T, NM_001318717.2:c.1470C>T, NM_001318717.1:c.1470C>T, NM_001318716.2:c.1500C>T, NM_001318716.1:c.1500C>T, NM_001318724.2:c.1353C>T, NM_001318724.1:c.1353C>T, NM_001318725.2:c.1353C>T, NM_001318725.1:c.1353C>T, NM_001318718.2:c.1428C>T, NM_001318718.1:c.1428C>T, NM_001318719.2:c.1428C>T, NM_001318719.1:c.1428C>T, NM_001143984.2:c.*1572G>A, NM_001143984.1:c.*1572G>A, NM_001318720.2:c.1422C>T, NM_001318720.1:c.1422C>T, NM_001318722.2:c.1353C>T, NM_001318722.1:c.1353C>T, NM_001318721.2:c.1353C>T, NM_001318721.1:c.1353C>T, NR_024222.1:n.1461C>T

              7.

              rs1475650808 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:47575654 (GRCh38)
                11:47597206 (GRCh37)
                Canonical SPDI:
                NC_000011.10:47575653:C:T
                Gene:
                KBTBD4 (Varview)
                Functional Consequence:
                coding_sequence_variant,stop_gained
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.47575654C>T, NC_000011.9:g.47597206C>T, NG_011946.2:g.1645C>T, NW_019805496.1:g.3480C>T, NM_016506.7:c.635G>A, NM_016506.6:c.635G>A, NM_016506.5:c.635G>A, NM_018095.6:c.683G>A, NM_018095.5:c.683G>A, NM_018095.4:c.683G>A, NM_001318716.2:c.782G>A, NM_001318716.1:c.782G>A, NM_001318724.2:c.635G>A, NM_001318724.1:c.635G>A, NM_001318723.2:c.635G>A, NM_001318723.1:c.635G>A, NM_001318717.2:c.752G>A, NM_001318717.1:c.752G>A, NM_001318725.2:c.635G>A, NM_001318725.1:c.635G>A, NM_001318718.2:c.710G>A, NM_001318718.1:c.710G>A, NM_001318719.2:c.710G>A, NM_001318719.1:c.710G>A, NM_001318722.2:c.635G>A, NM_001318722.1:c.635G>A, NM_001318720.2:c.704G>A, NM_001318720.1:c.704G>A, NM_001318721.2:c.635G>A, NM_001318721.1:c.635G>A, NR_024222.1:n.743G>A, NP_057590.3:p.Trp212Ter, NP_060565.4:p.Trp228Ter, NP_001305645.1:p.Trp261Ter, NP_001305653.1:p.Trp212Ter, NP_001305652.1:p.Trp212Ter, NP_001305646.1:p.Trp251Ter, NP_001305654.1:p.Trp212Ter, NP_001305647.1:p.Trp237Ter, NP_001305648.1:p.Trp237Ter, NP_001305651.1:p.Trp212Ter, NP_001305649.1:p.Trp235Ter, NP_001305650.1:p.Trp212Ter

                8.

                rs1472838239 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  11:47577996 (GRCh38)
                  11:47599548 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:47577995:C:G
                  Gene:
                  NDUFS3 (Varview), KBTBD4 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000014/2 (GnomAD)
                  G=0.000023/6 (TOPMED)
                  HGVS:
                  NC_000011.10:g.47577996C>G, NC_000011.9:g.47599548C>G, NG_011946.2:g.3987C>G, NW_019805496.1:g.5822C>G, NM_016506.7:c.4G>C, NM_016506.6:c.4G>C, NM_016506.5:c.4G>C, NM_018095.6:c.52G>C, NM_018095.5:c.52G>C, NM_018095.4:c.52G>C, NM_001318716.2:c.151G>C, NM_001318716.1:c.151G>C, NM_001318724.2:c.4G>C, NM_001318724.1:c.4G>C, NM_001318723.2:c.4G>C, NM_001318723.1:c.4G>C, NM_001318717.2:c.121G>C, NM_001318717.1:c.121G>C, NM_001318725.2:c.4G>C, NM_001318725.1:c.4G>C, NM_001318718.2:c.79G>C, NM_001318718.1:c.79G>C, NM_001318719.2:c.79G>C, NM_001318719.1:c.79G>C, NM_001318720.2:c.73G>C, NM_001318720.1:c.73G>C, NM_001318722.2:c.4G>C, NM_001318722.1:c.4G>C, NM_001318721.2:c.4G>C, NM_001318721.1:c.4G>C, NR_024222.1:n.112G>C, NP_057590.3:p.Glu2Gln, NP_060565.4:p.Glu18Gln, NP_001305645.1:p.Glu51Gln, NP_001305653.1:p.Glu2Gln, NP_001305652.1:p.Glu2Gln, NP_001305646.1:p.Glu41Gln, NP_001305654.1:p.Glu2Gln, NP_001305647.1:p.Glu27Gln, NP_001305648.1:p.Glu27Gln, NP_001305649.1:p.Glu25Gln, NP_001305651.1:p.Glu2Gln, NP_001305650.1:p.Glu2Gln

                  9.

                  rs1470166331 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:47573600 (GRCh38)
                    11:47595152 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:47573599:C:T
                    Gene:
                    KBTBD4 (Varview), PTPMT1 (Varview)
                    Functional Consequence:
                    missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    T=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000011.10:g.47573600C>T, NC_000011.9:g.47595152C>T, NW_019805496.1:g.1426C>T, NM_016506.7:c.887G>A, NM_016506.6:c.887G>A, NM_016506.5:c.887G>A, NM_018095.6:c.935G>A, NM_018095.5:c.935G>A, NM_018095.4:c.935G>A, NM_001318716.2:c.1034G>A, NM_001318716.1:c.1034G>A, NM_001318724.2:c.887G>A, NM_001318724.1:c.887G>A, NM_001318723.2:c.887G>A, NM_001318723.1:c.887G>A, NM_001318717.2:c.1004G>A, NM_001318717.1:c.1004G>A, NM_001318725.2:c.887G>A, NM_001318725.1:c.887G>A, NM_001318718.2:c.962G>A, NM_001318718.1:c.962G>A, NM_001318719.2:c.962G>A, NM_001318719.1:c.962G>A, NM_001318720.2:c.956G>A, NM_001318720.1:c.956G>A, NM_001318722.2:c.887G>A, NM_001318722.1:c.887G>A, NM_001318721.2:c.887G>A, NM_001318721.1:c.887G>A, NR_024222.1:n.995G>A, NP_057590.3:p.Arg296Gln, NP_060565.4:p.Arg312Gln, NP_001305645.1:p.Arg345Gln, NP_001305653.1:p.Arg296Gln, NP_001305652.1:p.Arg296Gln, NP_001305646.1:p.Arg335Gln, NP_001305654.1:p.Arg296Gln, NP_001305647.1:p.Arg321Gln, NP_001305648.1:p.Arg321Gln, NP_001305649.1:p.Arg319Gln, NP_001305651.1:p.Arg296Gln, NP_001305650.1:p.Arg296Gln

                    10.

                    rs1469530219 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CC>- [Show Flanks]
                      Chromosome:
                      11:47573031 (GRCh38)
                      11:47594583 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:47573027:CCCCC:CCC
                      Gene:
                      KBTBD4 (Varview), PTPMT1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCC=0./0 (ALFA)
                      -=0./0 (GnomAD)
                      -=0.000012/3 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.47573031_47573032del, NC_000011.9:g.47594583_47594584del, NW_019805496.1:g.857_858del, NM_016506.7:c.1458_1459del, NM_016506.6:c.1458_1459del, NM_016506.5:c.1458_1459del, NM_018095.6:c.1506_1507del, NM_018095.5:c.1506_1507del, NM_018095.4:c.1506_1507del, NM_175732.3:c.*1402_*1403del, NM_175732.2:c.*1402_*1403del, NM_001318723.2:c.1458_1459del, NM_001318723.1:c.1458_1459del, NM_001318717.2:c.1575_1576del, NM_001318717.1:c.1575_1576del, NM_001318716.2:c.1605_1606del, NM_001318716.1:c.1605_1606del, NM_001318724.2:c.1458_1459del, NM_001318724.1:c.1458_1459del, NM_001318725.2:c.1458_1459del, NM_001318725.1:c.1458_1459del, NM_001318718.2:c.1533_1534del, NM_001318718.1:c.1533_1534del, NM_001318719.2:c.1533_1534del, NM_001318719.1:c.1533_1534del, NM_001143984.2:c.*1469_*1470del, NM_001143984.1:c.*1469_*1470del, NM_001318720.2:c.1527_1528del, NM_001318720.1:c.1527_1528del, NM_001318722.2:c.1458_1459del, NM_001318722.1:c.1458_1459del, NM_001318721.2:c.1458_1459del, NM_001318721.1:c.1458_1459del, NR_024222.1:n.1566_1567del, NP_057590.3:p.Asp487fs, NP_060565.4:p.Asp503fs, NP_001305652.1:p.Asp487fs, NP_001305646.1:p.Asp526fs, NP_001305645.1:p.Asp536fs, NP_001305653.1:p.Asp487fs, NP_001305654.1:p.Asp487fs, NP_001305647.1:p.Asp512fs, NP_001305648.1:p.Asp512fs, NP_001305649.1:p.Asp510fs, NP_001305651.1:p.Asp487fs, NP_001305650.1:p.Asp487fs

                      11.

                      rs1469385772 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:47573779 (GRCh38)
                        11:47595331 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:47573778:C:T
                        Gene:
                        KBTBD4 (Varview), PTPMT1 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1468126417 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:47573380 (GRCh38)
                          11:47594932 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:47573379:T:C
                          Gene:
                          KBTBD4 (Varview), PTPMT1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                          HGVS:
                          NC_000011.10:g.47573380T>C, NC_000011.9:g.47594932T>C, NW_019805496.1:g.1206T>C, NM_016506.7:c.1107A>G, NM_016506.6:c.1107A>G, NM_016506.5:c.1107A>G, NM_018095.6:c.1155A>G, NM_018095.5:c.1155A>G, NM_018095.4:c.1155A>G, NM_175732.3:c.*1751T>C, NM_175732.2:c.*1751T>C, NM_001318723.2:c.1107A>G, NM_001318723.1:c.1107A>G, NM_001318717.2:c.1224A>G, NM_001318717.1:c.1224A>G, NM_001318716.2:c.1254A>G, NM_001318716.1:c.1254A>G, NM_001318724.2:c.1107A>G, NM_001318724.1:c.1107A>G, NM_001318725.2:c.1107A>G, NM_001318725.1:c.1107A>G, NM_001318718.2:c.1182A>G, NM_001318718.1:c.1182A>G, NM_001318719.2:c.1182A>G, NM_001318719.1:c.1182A>G, NM_001143984.2:c.*1818T>C, NM_001143984.1:c.*1818T>C, NM_001318720.2:c.1176A>G, NM_001318720.1:c.1176A>G, NM_001318722.2:c.1107A>G, NM_001318722.1:c.1107A>G, NM_001318721.2:c.1107A>G, NM_001318721.1:c.1107A>G, NR_024222.1:n.1215A>G

                          13.

                          rs1467860733 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            11:47577737 (GRCh38)
                            11:47599289 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:47577736:A:T
                            Gene:
                            NDUFS3 (Varview), KBTBD4 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000011.10:g.47577737A>T, NC_000011.9:g.47599289A>T, NG_011946.2:g.3728A>T, NW_019805496.1:g.5563A>T, NM_016506.7:c.263T>A, NM_016506.6:c.263T>A, NM_016506.5:c.263T>A, NM_018095.6:c.311T>A, NM_018095.5:c.311T>A, NM_018095.4:c.311T>A, NM_001318716.2:c.410T>A, NM_001318716.1:c.410T>A, NM_001318724.2:c.263T>A, NM_001318724.1:c.263T>A, NM_001318723.2:c.263T>A, NM_001318723.1:c.263T>A, NM_001318717.2:c.380T>A, NM_001318717.1:c.380T>A, NM_001318725.2:c.263T>A, NM_001318725.1:c.263T>A, NM_001318718.2:c.338T>A, NM_001318718.1:c.338T>A, NM_001318719.2:c.338T>A, NM_001318719.1:c.338T>A, NM_001318720.2:c.332T>A, NM_001318720.1:c.332T>A, NM_001318722.2:c.263T>A, NM_001318722.1:c.263T>A, NM_001318721.2:c.263T>A, NM_001318721.1:c.263T>A, NR_024222.1:n.371T>A, NP_057590.3:p.Leu88Gln, NP_060565.4:p.Leu104Gln, NP_001305645.1:p.Leu137Gln, NP_001305653.1:p.Leu88Gln, NP_001305652.1:p.Leu88Gln, NP_001305646.1:p.Leu127Gln, NP_001305654.1:p.Leu88Gln, NP_001305647.1:p.Leu113Gln, NP_001305648.1:p.Leu113Gln, NP_001305649.1:p.Leu111Gln, NP_001305651.1:p.Leu88Gln, NP_001305650.1:p.Leu88Gln

                            14.

                            rs1464813550 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:47573720 (GRCh38)
                              11:47595272 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:47573719:G:A
                              Gene:
                              KBTBD4 (Varview), PTPMT1 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.47573720G>A, NC_000011.9:g.47595272G>A, NW_019805496.1:g.1546G>A, NM_016506.7:c.767C>T, NM_016506.6:c.767C>T, NM_016506.5:c.767C>T, NM_018095.6:c.815C>T, NM_018095.5:c.815C>T, NM_018095.4:c.815C>T, NM_001318716.2:c.914C>T, NM_001318716.1:c.914C>T, NM_001318724.2:c.767C>T, NM_001318724.1:c.767C>T, NM_001318723.2:c.767C>T, NM_001318723.1:c.767C>T, NM_001318717.2:c.884C>T, NM_001318717.1:c.884C>T, NM_001318725.2:c.767C>T, NM_001318725.1:c.767C>T, NM_001318718.2:c.842C>T, NM_001318718.1:c.842C>T, NM_001318719.2:c.842C>T, NM_001318719.1:c.842C>T, NM_001318720.2:c.836C>T, NM_001318720.1:c.836C>T, NM_001318722.2:c.767C>T, NM_001318722.1:c.767C>T, NM_001318721.2:c.767C>T, NM_001318721.1:c.767C>T, NR_024222.1:n.875C>T, NP_057590.3:p.Ser256Phe, NP_060565.4:p.Ser272Phe, NP_001305645.1:p.Ser305Phe, NP_001305653.1:p.Ser256Phe, NP_001305652.1:p.Ser256Phe, NP_001305646.1:p.Ser295Phe, NP_001305654.1:p.Ser256Phe, NP_001305647.1:p.Ser281Phe, NP_001305648.1:p.Ser281Phe, NP_001305649.1:p.Ser279Phe, NP_001305651.1:p.Ser256Phe, NP_001305650.1:p.Ser256Phe

                              15.

                              rs1464109676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:47577546 (GRCh38)
                                11:47599098 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:47577545:A:G
                                Gene:
                                NDUFS3 (Varview), KBTBD4 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000011.10:g.47577546A>G, NC_000011.9:g.47599098A>G, NG_011946.2:g.3537A>G, NW_019805496.1:g.5372A>G, NM_016506.7:c.454T>C, NM_016506.6:c.454T>C, NM_016506.5:c.454T>C, NM_018095.6:c.502T>C, NM_018095.5:c.502T>C, NM_018095.4:c.502T>C, NM_001318716.2:c.601T>C, NM_001318716.1:c.601T>C, NM_001318724.2:c.454T>C, NM_001318724.1:c.454T>C, NM_001318723.2:c.454T>C, NM_001318723.1:c.454T>C, NM_001318717.2:c.571T>C, NM_001318717.1:c.571T>C, NM_001318725.2:c.454T>C, NM_001318725.1:c.454T>C, NM_001318718.2:c.529T>C, NM_001318718.1:c.529T>C, NM_001318719.2:c.529T>C, NM_001318719.1:c.529T>C, NM_001318720.2:c.523T>C, NM_001318720.1:c.523T>C, NM_001318722.2:c.454T>C, NM_001318722.1:c.454T>C, NM_001318721.2:c.454T>C, NM_001318721.1:c.454T>C, NR_024222.1:n.562T>C, NP_057590.3:p.Trp152Arg, NP_060565.4:p.Trp168Arg, NP_001305645.1:p.Trp201Arg, NP_001305653.1:p.Trp152Arg, NP_001305652.1:p.Trp152Arg, NP_001305646.1:p.Trp191Arg, NP_001305654.1:p.Trp152Arg, NP_001305647.1:p.Trp177Arg, NP_001305648.1:p.Trp177Arg, NP_001305649.1:p.Trp175Arg, NP_001305651.1:p.Trp152Arg, NP_001305650.1:p.Trp152Arg

                                16.

                                rs1463712760 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:47573409 (GRCh38)
                                  11:47594961 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:47573408:C:T
                                  Gene:
                                  KBTBD4 (Varview), PTPMT1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.47573409C>T, NC_000011.9:g.47594961C>T, NW_019805496.1:g.1235C>T, NM_016506.7:c.1078G>A, NM_016506.6:c.1078G>A, NM_016506.5:c.1078G>A, NM_018095.6:c.1126G>A, NM_018095.5:c.1126G>A, NM_018095.4:c.1126G>A, NM_175732.3:c.*1780C>T, NM_175732.2:c.*1780C>T, NM_001318723.2:c.1078G>A, NM_001318723.1:c.1078G>A, NM_001318717.2:c.1195G>A, NM_001318717.1:c.1195G>A, NM_001318725.2:c.1078G>A, NM_001318725.1:c.1078G>A, NM_001318718.2:c.1153G>A, NM_001318718.1:c.1153G>A, NM_001318719.2:c.1153G>A, NM_001318719.1:c.1153G>A, NM_001143984.2:c.*1847C>T, NM_001143984.1:c.*1847C>T, NM_001318720.2:c.1147G>A, NM_001318720.1:c.1147G>A, NM_001318716.2:c.1225G>A, NM_001318716.1:c.1225G>A, NM_001318724.2:c.1078G>A, NM_001318724.1:c.1078G>A, NM_001318722.2:c.1078G>A, NM_001318722.1:c.1078G>A, NM_001318721.2:c.1078G>A, NM_001318721.1:c.1078G>A, NR_024222.1:n.1186G>A, NP_057590.3:p.Glu360Lys, NP_060565.4:p.Glu376Lys, NP_001305652.1:p.Glu360Lys, NP_001305646.1:p.Glu399Lys, NP_001305654.1:p.Glu360Lys, NP_001305647.1:p.Glu385Lys, NP_001305648.1:p.Glu385Lys, NP_001305649.1:p.Glu383Lys, NP_001305645.1:p.Glu409Lys, NP_001305653.1:p.Glu360Lys, NP_001305651.1:p.Glu360Lys, NP_001305650.1:p.Glu360Lys

                                  17.

                                  rs1461759939 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TT>- [Show Flanks]
                                    Chromosome:
                                    11:47572977 (GRCh38)
                                    11:47594529 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:47572976:TT:
                                    Gene:
                                    KBTBD4 (Varview), PTPMT1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.47572977_47572978del, NC_000011.9:g.47594529_47594530del, NW_019805496.1:g.803_804del, NM_016506.7:c.1509_1510del, NM_016506.6:c.1509_1510del, NM_016506.5:c.1509_1510del, NM_018095.6:c.1557_1558del, NM_018095.5:c.1557_1558del, NM_018095.4:c.1557_1558del, NM_175732.3:c.*1348_*1349del, NM_175732.2:c.*1348_*1349del, NM_001318723.2:c.1509_1510del, NM_001318723.1:c.1509_1510del, NM_001318717.2:c.1626_1627del, NM_001318717.1:c.1626_1627del, NM_001318725.2:c.1509_1510del, NM_001318725.1:c.1509_1510del, NM_001318718.2:c.1584_1585del, NM_001318718.1:c.1584_1585del, NM_001318719.2:c.1584_1585del, NM_001318719.1:c.1584_1585del, NM_001143984.2:c.*1415_*1416del, NM_001143984.1:c.*1415_*1416del, NM_001318720.2:c.1578_1579del, NM_001318720.1:c.1578_1579del, NM_001318716.2:c.1656_1657del, NM_001318716.1:c.1656_1657del, NM_001318724.2:c.1509_1510del, NM_001318724.1:c.1509_1510del, NM_001318722.2:c.1509_1510del, NM_001318722.1:c.1509_1510del, NM_001318721.2:c.1509_1510del, NM_001318721.1:c.1509_1510del, NR_024222.1:n.1617_1618del, NP_057590.3:p.Gly505fs, NP_060565.4:p.Gly521fs, NP_001305652.1:p.Gly505fs, NP_001305646.1:p.Gly544fs, NP_001305654.1:p.Gly505fs, NP_001305647.1:p.Gly530fs, NP_001305648.1:p.Gly530fs, NP_001305649.1:p.Gly528fs, NP_001305645.1:p.Gly554fs, NP_001305653.1:p.Gly505fs, NP_001305651.1:p.Gly505fs, NP_001305650.1:p.Gly505fs

                                    18.

                                    rs1461365833 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:47577510 (GRCh38)
                                      11:47599062 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:47577509:T:C
                                      Gene:
                                      NDUFS3 (Varview), KBTBD4 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.0002/1 (ALFA)
                                      C=0.0002/1 (Estonian)
                                      HGVS:
                                      NC_000011.10:g.47577510T>C, NC_000011.9:g.47599062T>C, NG_011946.2:g.3501T>C, NW_019805496.1:g.5336T>C, NM_016506.7:c.490A>G, NM_016506.6:c.490A>G, NM_016506.5:c.490A>G, NM_018095.6:c.538A>G, NM_018095.5:c.538A>G, NM_018095.4:c.538A>G, NM_001318716.2:c.637A>G, NM_001318716.1:c.637A>G, NM_001318724.2:c.490A>G, NM_001318724.1:c.490A>G, NM_001318723.2:c.490A>G, NM_001318723.1:c.490A>G, NM_001318717.2:c.607A>G, NM_001318717.1:c.607A>G, NM_001318725.2:c.490A>G, NM_001318725.1:c.490A>G, NM_001318718.2:c.565A>G, NM_001318718.1:c.565A>G, NM_001318719.2:c.565A>G, NM_001318719.1:c.565A>G, NM_001318720.2:c.559A>G, NM_001318720.1:c.559A>G, NM_001318722.2:c.490A>G, NM_001318722.1:c.490A>G, NM_001318721.2:c.490A>G, NM_001318721.1:c.490A>G, NR_024222.1:n.598A>G, NP_057590.3:p.Thr164Ala, NP_060565.4:p.Thr180Ala, NP_001305645.1:p.Thr213Ala, NP_001305653.1:p.Thr164Ala, NP_001305652.1:p.Thr164Ala, NP_001305646.1:p.Thr203Ala, NP_001305654.1:p.Thr164Ala, NP_001305647.1:p.Thr189Ala, NP_001305648.1:p.Thr189Ala, NP_001305649.1:p.Thr187Ala, NP_001305651.1:p.Thr164Ala, NP_001305650.1:p.Thr164Ala

                                      19.

                                      rs1457096443 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        11:47573502 (GRCh38)
                                        11:47595054 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:47573501:T:G
                                        Gene:
                                        KBTBD4 (Varview), PTPMT1 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000011.10:g.47573502T>G, NC_000011.9:g.47595054T>G, NW_019805496.1:g.1328T>G, NM_016506.7:c.985A>C, NM_016506.6:c.985A>C, NM_016506.5:c.985A>C, NM_018095.6:c.1033A>C, NM_018095.5:c.1033A>C, NM_018095.4:c.1033A>C, NM_001318716.2:c.1132A>C, NM_001318716.1:c.1132A>C, NM_001318724.2:c.985A>C, NM_001318724.1:c.985A>C, NM_001318723.2:c.985A>C, NM_001318723.1:c.985A>C, NM_001318717.2:c.1102A>C, NM_001318717.1:c.1102A>C, NM_001318725.2:c.985A>C, NM_001318725.1:c.985A>C, NM_001318718.2:c.1060A>C, NM_001318718.1:c.1060A>C, NM_001318719.2:c.1060A>C, NM_001318719.1:c.1060A>C, NM_001318720.2:c.1054A>C, NM_001318720.1:c.1054A>C, NM_001318722.2:c.985A>C, NM_001318722.1:c.985A>C, NM_001318721.2:c.985A>C, NM_001318721.1:c.985A>C, NR_024222.1:n.1093A>C, NP_057590.3:p.Lys329Gln, NP_060565.4:p.Lys345Gln, NP_001305645.1:p.Lys378Gln, NP_001305653.1:p.Lys329Gln, NP_001305652.1:p.Lys329Gln, NP_001305646.1:p.Lys368Gln, NP_001305654.1:p.Lys329Gln, NP_001305647.1:p.Lys354Gln, NP_001305648.1:p.Lys354Gln, NP_001305649.1:p.Lys352Gln, NP_001305651.1:p.Lys329Gln, NP_001305650.1:p.Lys329Gln

                                        20.

                                        rs1456878365 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          11:47577485 (GRCh38)
                                          11:47599037 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:47577484:G:A,NC_000011.10:47577484:G:T
                                          Gene:
                                          NDUFS3 (Varview), KBTBD4 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.47577485G>A, NC_000011.10:g.47577485G>T, NC_000011.9:g.47599037G>A, NC_000011.9:g.47599037G>T, NG_011946.2:g.3476G>A, NG_011946.2:g.3476G>T, NW_019805496.1:g.5311G>A, NW_019805496.1:g.5311G>T, NM_016506.7:c.515C>T, NM_016506.7:c.515C>A, NM_016506.6:c.515C>T, NM_016506.6:c.515C>A, NM_016506.5:c.515C>T, NM_016506.5:c.515C>A, NM_018095.6:c.563C>T, NM_018095.6:c.563C>A, NM_018095.5:c.563C>T, NM_018095.5:c.563C>A, NM_018095.4:c.563C>T, NM_018095.4:c.563C>A, NM_001318716.2:c.662C>T, NM_001318716.2:c.662C>A, NM_001318716.1:c.662C>T, NM_001318716.1:c.662C>A, NM_001318724.2:c.515C>T, NM_001318724.2:c.515C>A, NM_001318724.1:c.515C>T, NM_001318724.1:c.515C>A, NM_001318723.2:c.515C>T, NM_001318723.2:c.515C>A, NM_001318723.1:c.515C>T, NM_001318723.1:c.515C>A, NM_001318717.2:c.632C>T, NM_001318717.2:c.632C>A, NM_001318717.1:c.632C>T, NM_001318717.1:c.632C>A, NM_001318725.2:c.515C>T, NM_001318725.2:c.515C>A, NM_001318725.1:c.515C>T, NM_001318725.1:c.515C>A, NM_001318718.2:c.590C>T, NM_001318718.2:c.590C>A, NM_001318718.1:c.590C>T, NM_001318718.1:c.590C>A, NM_001318719.2:c.590C>T, NM_001318719.2:c.590C>A, NM_001318719.1:c.590C>T, NM_001318719.1:c.590C>A, NM_001318720.2:c.584C>T, NM_001318720.2:c.584C>A, NM_001318720.1:c.584C>T, NM_001318720.1:c.584C>A, NM_001318722.2:c.515C>T, NM_001318722.2:c.515C>A, NM_001318722.1:c.515C>T, NM_001318722.1:c.515C>A, NM_001318721.2:c.515C>T, NM_001318721.2:c.515C>A, NM_001318721.1:c.515C>T, NM_001318721.1:c.515C>A, NR_024222.1:n.623C>T, NR_024222.1:n.623C>A, NP_057590.3:p.Thr172Ile, NP_057590.3:p.Thr172Asn, NP_060565.4:p.Thr188Ile, NP_060565.4:p.Thr188Asn, NP_001305645.1:p.Thr221Ile, NP_001305645.1:p.Thr221Asn, NP_001305653.1:p.Thr172Ile, NP_001305653.1:p.Thr172Asn, NP_001305652.1:p.Thr172Ile, NP_001305652.1:p.Thr172Asn, NP_001305646.1:p.Thr211Ile, NP_001305646.1:p.Thr211Asn, NP_001305654.1:p.Thr172Ile, NP_001305654.1:p.Thr172Asn, NP_001305647.1:p.Thr197Ile, NP_001305647.1:p.Thr197Asn, NP_001305648.1:p.Thr197Ile, NP_001305648.1:p.Thr197Asn, NP_001305649.1:p.Thr195Ile, NP_001305649.1:p.Thr195Asn, NP_001305651.1:p.Thr172Ile, NP_001305651.1:p.Thr172Asn, NP_001305650.1:p.Thr172Ile, NP_001305650.1:p.Thr172Asn

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