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Items: 1 to 20 of 3330

1.

rs1490954829 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CAACAA>- [Show Flanks]
    Chromosome:
    2:84815999 (GRCh38)
    2:85043123 (GRCh37)
    Canonical SPDI:
    NC_000002.12:84815997:ACAACAA:A
    Gene:
    DNAH6 (Varview)
    Functional Consequence:
    inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.84815999_84816004del, NC_000002.11:g.85043123_85043128del, NG_050957.1:g.361460_361465del, NM_001370.2:c.12289_12294del, NM_001370.1:c.12289_12294del, XM_011532650.4:c.12289_12294del, XM_011532650.3:c.12289_12294del, XM_011532650.2:c.12289_12294del, XM_011532650.1:c.12289_12294del, XM_006711956.3:c.12289_12294del, XM_006711956.2:c.12289_12294del, XM_006711956.1:c.12289_12294del, XM_011532649.3:c.12289_12294del, XM_011532649.2:c.12289_12294del, XM_011532649.1:c.12289_12294del, XM_011532652.2:c.12163_12168del, XM_011532652.1:c.12163_12168del, XM_011532653.2:c.12142_12147del, XM_011532653.1:c.12142_12147del, XM_017003521.2:c.12016_12021del, XM_017003521.1:c.12016_12021del, XM_011532655.2:c.11305_11310del, XM_011532655.1:c.11305_11310del, XM_011532654.1:c.11899_11904del, XM_011532657.1:c.11026_11031del, XM_047443589.1:c.11026_11031del, XM_047443590.1:c.10297_10302del, NP_001361.1:p.Gln4097_Gln4098del, XP_011530952.1:p.Gln4097_Gln4098del, XP_006712019.1:p.Gln4097_Gln4098del, XP_011530951.1:p.Gln4097_Gln4098del, XP_011530954.1:p.Gln4055_Gln4056del, XP_011530955.1:p.Gln4048_Gln4049del, XP_016859010.1:p.Gln4006_Gln4007del, XP_011530957.1:p.Gln3769_Gln3770del, XP_011530956.1:p.Gln3967_Gln3968del, XP_011530959.1:p.Gln3676_Gln3677del, XP_047299545.1:p.Gln3676_Gln3677del, XP_047299546.1:p.Gln3433_Gln3434del

    2.

    rs1490882216 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:84710313 (GRCh38)
      2:84937437 (GRCh37)
      Canonical SPDI:
      NC_000002.12:84710312:A:G
      Gene:
      DNAH6 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000006/1 (GnomAD_exomes)
      G=0.000011/3 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:

      3.

      rs1490816714 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        2:84641987 (GRCh38)
        2:84869111 (GRCh37)
        Canonical SPDI:
        NC_000002.12:84641986:G:T
        Gene:
        DNAH6 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000006/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.84641987G>T, NC_000002.11:g.84869111G>T, NG_050957.1:g.187448G>T, NM_001370.2:c.5011G>T, NM_001370.1:c.5011G>T, XM_011532650.4:c.5011G>T, XM_011532650.3:c.5011G>T, XM_011532650.2:c.5011G>T, XM_011532650.1:c.5011G>T, XM_006711956.3:c.5011G>T, XM_006711956.2:c.5011G>T, XM_006711956.1:c.5011G>T, XM_011532649.3:c.5011G>T, XM_011532649.2:c.5011G>T, XM_011532649.1:c.5011G>T, XM_011532652.2:c.4885G>T, XM_011532652.1:c.4885G>T, XM_011532653.2:c.5011G>T, XM_011532653.1:c.5011G>T, XM_017003521.2:c.4885G>T, XM_017003521.1:c.4885G>T, XM_011532655.2:c.4027G>T, XM_011532655.1:c.4027G>T, XM_011532660.2:c.5011G>T, XM_011532660.1:c.5011G>T, XM_017003524.2:c.5011G>T, XM_017003524.1:c.5011G>T, XM_011532654.1:c.4621G>T, XM_011532657.1:c.3748G>T, XM_047443589.1:c.3748G>T, XM_047443590.1:c.3019G>T, NP_001361.1:p.Val1671Leu, XP_011530952.1:p.Val1671Leu, XP_006712019.1:p.Val1671Leu, XP_011530951.1:p.Val1671Leu, XP_011530954.1:p.Val1629Leu, XP_011530955.1:p.Val1671Leu, XP_016859010.1:p.Val1629Leu, XP_011530957.1:p.Val1343Leu, XP_011530962.1:p.Val1671Leu, XP_016859013.1:p.Val1671Leu, XP_011530956.1:p.Val1541Leu, XP_011530959.1:p.Val1250Leu, XP_047299545.1:p.Val1250Leu, XP_047299546.1:p.Val1007Leu

        4.

        rs1490324785 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:84653607 (GRCh38)
          2:84880731 (GRCh37)
          Canonical SPDI:
          NC_000002.12:84653606:T:C
          Gene:
          DNAH6 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.000006/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.84653607T>C, NC_000002.11:g.84880731T>C, NG_050957.1:g.199068T>C, NM_001370.2:c.5367T>C, NM_001370.1:c.5367T>C, XM_011532650.4:c.5367T>C, XM_011532650.3:c.5367T>C, XM_011532650.2:c.5367T>C, XM_011532650.1:c.5367T>C, XM_006711956.3:c.5367T>C, XM_006711956.2:c.5367T>C, XM_006711956.1:c.5367T>C, XM_011532649.3:c.5367T>C, XM_011532649.2:c.5367T>C, XM_011532649.1:c.5367T>C, XM_011532652.2:c.5241T>C, XM_011532652.1:c.5241T>C, XM_011532653.2:c.5367T>C, XM_011532653.1:c.5367T>C, XM_017003521.2:c.5241T>C, XM_017003521.1:c.5241T>C, XM_011532655.2:c.4383T>C, XM_011532655.1:c.4383T>C, XM_011532660.2:c.5367T>C, XM_011532660.1:c.5367T>C, XM_017003524.2:c.5367T>C, XM_017003524.1:c.5367T>C, XM_011532654.1:c.4977T>C, XM_011532657.1:c.4104T>C, XM_047443589.1:c.4104T>C, XM_047443590.1:c.3375T>C

          5.

          rs1489391453 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TGA>- [Show Flanks]
            Chromosome:
            2:84727686 (GRCh38)
            2:84954810 (GRCh37)
            Canonical SPDI:
            NC_000002.12:84727685:TGA:
            Gene:
            DNAH6 (Varview)
            Functional Consequence:
            inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.84727686_84727688del, NC_000002.11:g.84954810_84954812del, NG_050957.1:g.273147_273149del, NM_001370.2:c.9990_9992del, NM_001370.1:c.9990_9992del, XM_011532650.4:c.9990_9992del, XM_011532650.3:c.9990_9992del, XM_011532650.2:c.9990_9992del, XM_011532650.1:c.9990_9992del, XM_006711956.3:c.9990_9992del, XM_006711956.2:c.9990_9992del, XM_006711956.1:c.9990_9992del, XM_011532649.3:c.9990_9992del, XM_011532649.2:c.9990_9992del, XM_011532649.1:c.9990_9992del, XM_011532652.2:c.9864_9866del, XM_011532652.1:c.9864_9866del, XM_011532653.2:c.9843_9845del, XM_011532653.1:c.9843_9845del, XM_017003521.2:c.9717_9719del, XM_017003521.1:c.9717_9719del, XM_011532655.2:c.9006_9008del, XM_011532655.1:c.9006_9008del, XM_011532654.1:c.9600_9602del, XM_011532657.1:c.8727_8729del, XM_047443589.1:c.8727_8729del, XM_047443590.1:c.7998_8000del, NP_001361.1:p.Glu3331del, XP_011530952.1:p.Glu3331del, XP_006712019.1:p.Glu3331del, XP_011530951.1:p.Glu3331del, XP_011530954.1:p.Glu3289del, XP_011530955.1:p.Glu3282del, XP_016859010.1:p.Glu3240del, XP_011530957.1:p.Glu3003del, XP_011530956.1:p.Glu3201del, XP_011530959.1:p.Glu2910del, XP_047299545.1:p.Glu2910del, XP_047299546.1:p.Glu2667del

            6.

            rs1489175594 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:84787256 (GRCh38)
              2:85014380 (GRCh37)
              Canonical SPDI:
              NC_000002.12:84787255:T:C
              Gene:
              DNAH6 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000111/1 (ALFA)
              C=0.000006/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1489166323 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:84727880 (GRCh38)
                2:84955004 (GRCh37)
                Canonical SPDI:
                NC_000002.12:84727879:G:A
                Gene:
                DNAH6 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000013/2 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.84727880G>A, NC_000002.11:g.84955004G>A, NG_050957.1:g.273341G>A, NM_001370.2:c.10184G>A, NM_001370.1:c.10184G>A, XM_011532650.4:c.10184G>A, XM_011532650.3:c.10184G>A, XM_011532650.2:c.10184G>A, XM_011532650.1:c.10184G>A, XM_006711956.3:c.10184G>A, XM_006711956.2:c.10184G>A, XM_006711956.1:c.10184G>A, XM_011532649.3:c.10184G>A, XM_011532649.2:c.10184G>A, XM_011532649.1:c.10184G>A, XM_011532652.2:c.10058G>A, XM_011532652.1:c.10058G>A, XM_011532653.2:c.10037G>A, XM_011532653.1:c.10037G>A, XM_017003521.2:c.9911G>A, XM_017003521.1:c.9911G>A, XM_011532655.2:c.9200G>A, XM_011532655.1:c.9200G>A, XM_011532654.1:c.9794G>A, XM_011532657.1:c.8921G>A, XM_047443589.1:c.8921G>A, XM_047443590.1:c.8192G>A, NP_001361.1:p.Arg3395Gln, XP_011530952.1:p.Arg3395Gln, XP_006712019.1:p.Arg3395Gln, XP_011530951.1:p.Arg3395Gln, XP_011530954.1:p.Arg3353Gln, XP_011530955.1:p.Arg3346Gln, XP_016859010.1:p.Arg3304Gln, XP_011530957.1:p.Arg3067Gln, XP_011530956.1:p.Arg3265Gln, XP_011530959.1:p.Arg2974Gln, XP_047299545.1:p.Arg2974Gln, XP_047299546.1:p.Arg2731Gln

                8.

                rs1489133538 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:84781508 (GRCh38)
                  2:85008632 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:84781507:A:G
                  Gene:
                  DNAH6 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000006/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1488956778 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    2:84529032 (GRCh38)
                    2:84756156 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:84529031:A:T
                    Gene:
                    DNAH6 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000006/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.84529032A>T, NC_000002.11:g.84756156A>T, NG_050957.1:g.74493A>T, NM_001370.2:c.528A>T, NM_001370.1:c.528A>T, XM_011532650.4:c.528A>T, XM_011532650.3:c.528A>T, XM_011532650.2:c.528A>T, XM_011532650.1:c.528A>T, XM_006711956.3:c.528A>T, XM_006711956.2:c.528A>T, XM_006711956.1:c.528A>T, XM_011532649.3:c.528A>T, XM_011532649.2:c.528A>T, XM_011532649.1:c.528A>T, XM_011532652.2:c.528A>T, XM_011532652.1:c.528A>T, XM_011532653.2:c.528A>T, XM_011532653.1:c.528A>T, XM_017003521.2:c.528A>T, XM_017003521.1:c.528A>T, XM_011532660.2:c.528A>T, XM_011532660.1:c.528A>T, XM_017003524.2:c.528A>T, XM_017003524.1:c.528A>T, XM_011532654.1:c.138A>T, NP_001361.1:p.Glu176Asp, XP_011530952.1:p.Glu176Asp, XP_006712019.1:p.Glu176Asp, XP_011530951.1:p.Glu176Asp, XP_011530954.1:p.Glu176Asp, XP_011530955.1:p.Glu176Asp, XP_016859010.1:p.Glu176Asp, XP_011530962.1:p.Glu176Asp, XP_016859013.1:p.Glu176Asp, XP_011530956.1:p.Glu46Asp

                    10.

                    rs1488785314 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:84672359 (GRCh38)
                      2:84899483 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:84672358:G:A
                      Gene:
                      DNAH6 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000002.12:g.84672359G>A, NC_000002.11:g.84899483G>A, NG_050957.1:g.217820G>A, NM_001370.2:c.6487G>A, NM_001370.1:c.6487G>A, XM_011532650.4:c.6487G>A, XM_011532650.3:c.6487G>A, XM_011532650.2:c.6487G>A, XM_011532650.1:c.6487G>A, XM_006711956.3:c.6487G>A, XM_006711956.2:c.6487G>A, XM_006711956.1:c.6487G>A, XM_011532649.3:c.6487G>A, XM_011532649.2:c.6487G>A, XM_011532649.1:c.6487G>A, XM_011532652.2:c.6361G>A, XM_011532652.1:c.6361G>A, XM_011532653.2:c.6487G>A, XM_011532653.1:c.6487G>A, XM_017003521.2:c.6361G>A, XM_017003521.1:c.6361G>A, XM_011532655.2:c.5503G>A, XM_011532655.1:c.5503G>A, XM_011532660.2:c.6487G>A, XM_011532660.1:c.6487G>A, XM_017003524.2:c.6487G>A, XM_017003524.1:c.6487G>A, XM_011532654.1:c.6097G>A, XM_011532657.1:c.5224G>A, XM_047443589.1:c.5224G>A, XM_047443590.1:c.4495G>A, NM_145299.1:c.550G>A, NP_001361.1:p.Val2163Ile, XP_011530952.1:p.Val2163Ile, XP_006712019.1:p.Val2163Ile, XP_011530951.1:p.Val2163Ile, XP_011530954.1:p.Val2121Ile, XP_011530955.1:p.Val2163Ile, XP_016859010.1:p.Val2121Ile, XP_011530957.1:p.Val1835Ile, XP_011530962.1:p.Val2163Ile, XP_016859013.1:p.Val2163Ile, XP_011530956.1:p.Val2033Ile, XP_011530959.1:p.Val1742Ile, XP_047299545.1:p.Val1742Ile, XP_047299546.1:p.Val1499Ile

                      11.

                      rs1488017176 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:84727809 (GRCh38)
                        2:84954933 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:84727808:C:T
                        Gene:
                        DNAH6 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1487704742 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:84703449 (GRCh38)
                          2:84930573 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:84703448:G:C
                          Gene:
                          DNAH6 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.84703449G>C, NC_000002.11:g.84930573G>C, NG_050957.1:g.248910G>C, NM_001370.2:c.8116G>C, NM_001370.1:c.8116G>C, XM_011532650.4:c.8116G>C, XM_011532650.3:c.8116G>C, XM_011532650.2:c.8116G>C, XM_011532650.1:c.8116G>C, XM_006711956.3:c.8116G>C, XM_006711956.2:c.8116G>C, XM_006711956.1:c.8116G>C, XM_011532649.3:c.8116G>C, XM_011532649.2:c.8116G>C, XM_011532649.1:c.8116G>C, XM_011532652.2:c.7990G>C, XM_011532652.1:c.7990G>C, XM_011532653.2:c.7969G>C, XM_011532653.1:c.7969G>C, XM_017003521.2:c.7843G>C, XM_017003521.1:c.7843G>C, XM_011532655.2:c.7132G>C, XM_011532655.1:c.7132G>C, XM_011532654.1:c.7726G>C, XM_011532657.1:c.6853G>C, XM_047443589.1:c.6853G>C, XM_047443590.1:c.6124G>C, NP_001361.1:p.Val2706Leu, XP_011530952.1:p.Val2706Leu, XP_006712019.1:p.Val2706Leu, XP_011530951.1:p.Val2706Leu, XP_011530954.1:p.Val2664Leu, XP_011530955.1:p.Val2657Leu, XP_016859010.1:p.Val2615Leu, XP_011530957.1:p.Val2378Leu, XP_011530956.1:p.Val2576Leu, XP_011530959.1:p.Val2285Leu, XP_047299545.1:p.Val2285Leu, XP_047299546.1:p.Val2042Leu

                          13.

                          rs1487440155 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            2:84681520 (GRCh38)
                            2:84908644 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:84681519:G:A,NC_000002.12:84681519:G:T
                            Gene:
                            DNAH6 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            A=0.000013/2 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.84681520G>A, NC_000002.12:g.84681520G>T, NC_000002.11:g.84908644G>A, NC_000002.11:g.84908644G>T, NG_050957.1:g.226981G>A, NG_050957.1:g.226981G>T, NM_001370.2:c.6908G>A, NM_001370.2:c.6908G>T, NM_001370.1:c.6908G>A, NM_001370.1:c.6908G>T, XM_011532650.4:c.6908G>A, XM_011532650.4:c.6908G>T, XM_011532650.3:c.6908G>A, XM_011532650.3:c.6908G>T, XM_011532650.2:c.6908G>A, XM_011532650.2:c.6908G>T, XM_011532650.1:c.6908G>A, XM_011532650.1:c.6908G>T, XM_006711956.3:c.6908G>A, XM_006711956.3:c.6908G>T, XM_006711956.2:c.6908G>A, XM_006711956.2:c.6908G>T, XM_006711956.1:c.6908G>A, XM_006711956.1:c.6908G>T, XM_011532649.3:c.6908G>A, XM_011532649.3:c.6908G>T, XM_011532649.2:c.6908G>A, XM_011532649.2:c.6908G>T, XM_011532649.1:c.6908G>A, XM_011532649.1:c.6908G>T, XM_011532652.2:c.6782G>A, XM_011532652.2:c.6782G>T, XM_011532652.1:c.6782G>A, XM_011532652.1:c.6782G>T, XM_011532653.2:c.6908G>A, XM_011532653.2:c.6908G>T, XM_011532653.1:c.6908G>A, XM_011532653.1:c.6908G>T, XM_017003521.2:c.6782G>A, XM_017003521.2:c.6782G>T, XM_017003521.1:c.6782G>A, XM_017003521.1:c.6782G>T, XM_011532655.2:c.5924G>A, XM_011532655.2:c.5924G>T, XM_011532655.1:c.5924G>A, XM_011532655.1:c.5924G>T, XM_011532654.1:c.6518G>A, XM_011532654.1:c.6518G>T, XM_011532657.1:c.5645G>A, XM_011532657.1:c.5645G>T, XM_047443589.1:c.5645G>A, XM_047443589.1:c.5645G>T, XM_047443590.1:c.4916G>A, XM_047443590.1:c.4916G>T, NM_145299.1:c.971G>A, NM_145299.1:c.971G>T, NP_001361.1:p.Cys2303Tyr, NP_001361.1:p.Cys2303Phe, XP_011530952.1:p.Cys2303Tyr, XP_011530952.1:p.Cys2303Phe, XP_006712019.1:p.Cys2303Tyr, XP_006712019.1:p.Cys2303Phe, XP_011530951.1:p.Cys2303Tyr, XP_011530951.1:p.Cys2303Phe, XP_011530954.1:p.Cys2261Tyr, XP_011530954.1:p.Cys2261Phe, XP_011530955.1:p.Cys2303Tyr, XP_011530955.1:p.Cys2303Phe, XP_016859010.1:p.Cys2261Tyr, XP_016859010.1:p.Cys2261Phe, XP_011530957.1:p.Cys1975Tyr, XP_011530957.1:p.Cys1975Phe, XP_011530956.1:p.Cys2173Tyr, XP_011530956.1:p.Cys2173Phe, XP_011530959.1:p.Cys1882Tyr, XP_011530959.1:p.Cys1882Phe, XP_047299545.1:p.Cys1882Tyr, XP_047299545.1:p.Cys1882Phe, XP_047299546.1:p.Cys1639Tyr, XP_047299546.1:p.Cys1639Phe

                            14.

                            rs1487289581 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:84813080 (GRCh38)
                              2:85040204 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:84813079:C:T
                              Gene:
                              DNAH6 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.84813080C>T, NC_000002.11:g.85040204C>T, NG_050957.1:g.358541C>T, NM_001370.2:c.11948C>T, NM_001370.1:c.11948C>T, XM_011532650.4:c.11948C>T, XM_011532650.3:c.11948C>T, XM_011532650.2:c.11948C>T, XM_011532650.1:c.11948C>T, XM_006711956.3:c.11948C>T, XM_006711956.2:c.11948C>T, XM_006711956.1:c.11948C>T, XM_011532649.3:c.11948C>T, XM_011532649.2:c.11948C>T, XM_011532649.1:c.11948C>T, XM_011532652.2:c.11822C>T, XM_011532652.1:c.11822C>T, XM_011532653.2:c.11801C>T, XM_011532653.1:c.11801C>T, XM_017003521.2:c.11675C>T, XM_017003521.1:c.11675C>T, XM_011532655.2:c.10964C>T, XM_011532655.1:c.10964C>T, XM_011532654.1:c.11558C>T, XM_011532657.1:c.10685C>T, XM_047443589.1:c.10685C>T, XM_047443590.1:c.9956C>T, NP_001361.1:p.Pro3983Leu, XP_011530952.1:p.Pro3983Leu, XP_006712019.1:p.Pro3983Leu, XP_011530951.1:p.Pro3983Leu, XP_011530954.1:p.Pro3941Leu, XP_011530955.1:p.Pro3934Leu, XP_016859010.1:p.Pro3892Leu, XP_011530957.1:p.Pro3655Leu, XP_011530956.1:p.Pro3853Leu, XP_011530959.1:p.Pro3562Leu, XP_047299545.1:p.Pro3562Leu, XP_047299546.1:p.Pro3319Leu

                              15.

                              rs1486899821 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:84605565 (GRCh38)
                                2:84832689 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:84605564:T:C
                                Gene:
                                DNAH6 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000002.12:g.84605565T>C, NC_000002.11:g.84832689T>C, NG_050957.1:g.151026T>C, NM_001370.2:c.3147T>C, NM_001370.1:c.3147T>C, XM_011532650.4:c.3147T>C, XM_011532650.3:c.3147T>C, XM_011532650.2:c.3147T>C, XM_011532650.1:c.3147T>C, XM_006711956.3:c.3147T>C, XM_006711956.2:c.3147T>C, XM_006711956.1:c.3147T>C, XM_011532649.3:c.3147T>C, XM_011532649.2:c.3147T>C, XM_011532649.1:c.3147T>C, XM_011532652.2:c.3147T>C, XM_011532652.1:c.3147T>C, XM_011532653.2:c.3147T>C, XM_011532653.1:c.3147T>C, XM_017003521.2:c.3147T>C, XM_017003521.1:c.3147T>C, XM_011532655.2:c.2163T>C, XM_011532655.1:c.2163T>C, XM_011532660.2:c.3147T>C, XM_011532660.1:c.3147T>C, XM_017003524.2:c.3147T>C, XM_017003524.1:c.3147T>C, XM_011532654.1:c.2757T>C, XM_011532657.1:c.1884T>C, XM_047443589.1:c.1884T>C, XM_047443590.1:c.1155T>C

                                16.

                                rs1486365510 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:84634617 (GRCh38)
                                  2:84861741 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:84634616:C:T
                                  Gene:
                                  DNAH6 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.84634617C>T, NC_000002.11:g.84861741C>T, NG_050957.1:g.180078C>T, NM_001370.2:c.4629C>T, NM_001370.1:c.4629C>T, XM_011532650.4:c.4629C>T, XM_011532650.3:c.4629C>T, XM_011532650.2:c.4629C>T, XM_011532650.1:c.4629C>T, XM_006711956.3:c.4629C>T, XM_006711956.2:c.4629C>T, XM_006711956.1:c.4629C>T, XM_011532649.3:c.4629C>T, XM_011532649.2:c.4629C>T, XM_011532649.1:c.4629C>T, XM_011532652.2:c.4503C>T, XM_011532652.1:c.4503C>T, XM_011532653.2:c.4629C>T, XM_011532653.1:c.4629C>T, XM_017003521.2:c.4503C>T, XM_017003521.1:c.4503C>T, XM_011532655.2:c.3645C>T, XM_011532655.1:c.3645C>T, XM_011532660.2:c.4629C>T, XM_011532660.1:c.4629C>T, XM_017003524.2:c.4629C>T, XM_017003524.1:c.4629C>T, XM_011532654.1:c.4239C>T, XM_011532657.1:c.3366C>T, XM_047443589.1:c.3366C>T, XM_047443590.1:c.2637C>T

                                  17.

                                  rs1486228390 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:84594029 (GRCh38)
                                    2:84821153 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:84594028:C:T
                                    Gene:
                                    DNAH6 (Varview)
                                    Functional Consequence:
                                    stop_gained,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000006/1 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.84594029C>T, NC_000002.11:g.84821153C>T, NG_050957.1:g.139490C>T, NM_001370.2:c.2668C>T, NM_001370.1:c.2668C>T, XM_011532650.4:c.2668C>T, XM_011532650.3:c.2668C>T, XM_011532650.2:c.2668C>T, XM_011532650.1:c.2668C>T, XM_006711956.3:c.2668C>T, XM_006711956.2:c.2668C>T, XM_006711956.1:c.2668C>T, XM_011532649.3:c.2668C>T, XM_011532649.2:c.2668C>T, XM_011532649.1:c.2668C>T, XM_011532652.2:c.2668C>T, XM_011532652.1:c.2668C>T, XM_011532653.2:c.2668C>T, XM_011532653.1:c.2668C>T, XM_017003521.2:c.2668C>T, XM_017003521.1:c.2668C>T, XM_011532655.2:c.1684C>T, XM_011532655.1:c.1684C>T, XM_011532660.2:c.2668C>T, XM_011532660.1:c.2668C>T, XM_017003524.2:c.2668C>T, XM_017003524.1:c.2668C>T, XM_011532654.1:c.2278C>T, XM_011532657.1:c.1405C>T, XM_047443589.1:c.1405C>T, XM_047443590.1:c.676C>T, NP_001361.1:p.Gln890Ter, XP_011530952.1:p.Gln890Ter, XP_006712019.1:p.Gln890Ter, XP_011530951.1:p.Gln890Ter, XP_011530954.1:p.Gln890Ter, XP_011530955.1:p.Gln890Ter, XP_016859010.1:p.Gln890Ter, XP_011530957.1:p.Gln562Ter, XP_011530962.1:p.Gln890Ter, XP_016859013.1:p.Gln890Ter, XP_011530956.1:p.Gln760Ter, XP_011530959.1:p.Gln469Ter, XP_047299545.1:p.Gln469Ter, XP_047299546.1:p.Gln226Ter

                                    18.

                                    rs1486214391 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      2:84813108 (GRCh38)
                                      2:85040232 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:84813107:C:G,NC_000002.12:84813107:C:T
                                      Gene:
                                      DNAH6 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.84813108C>G, NC_000002.12:g.84813108C>T, NC_000002.11:g.85040232C>G, NC_000002.11:g.85040232C>T, NG_050957.1:g.358569C>G, NG_050957.1:g.358569C>T, NM_001370.2:c.11976C>G, NM_001370.2:c.11976C>T, NM_001370.1:c.11976C>G, NM_001370.1:c.11976C>T, XM_011532650.4:c.11976C>G, XM_011532650.4:c.11976C>T, XM_011532650.3:c.11976C>G, XM_011532650.3:c.11976C>T, XM_011532650.2:c.11976C>G, XM_011532650.2:c.11976C>T, XM_011532650.1:c.11976C>G, XM_011532650.1:c.11976C>T, XM_006711956.3:c.11976C>G, XM_006711956.3:c.11976C>T, XM_006711956.2:c.11976C>G, XM_006711956.2:c.11976C>T, XM_006711956.1:c.11976C>G, XM_006711956.1:c.11976C>T, XM_011532649.3:c.11976C>G, XM_011532649.3:c.11976C>T, XM_011532649.2:c.11976C>G, XM_011532649.2:c.11976C>T, XM_011532649.1:c.11976C>G, XM_011532649.1:c.11976C>T, XM_011532652.2:c.11850C>G, XM_011532652.2:c.11850C>T, XM_011532652.1:c.11850C>G, XM_011532652.1:c.11850C>T, XM_011532653.2:c.11829C>G, XM_011532653.2:c.11829C>T, XM_011532653.1:c.11829C>G, XM_011532653.1:c.11829C>T, XM_017003521.2:c.11703C>G, XM_017003521.2:c.11703C>T, XM_017003521.1:c.11703C>G, XM_017003521.1:c.11703C>T, XM_011532655.2:c.10992C>G, XM_011532655.2:c.10992C>T, XM_011532655.1:c.10992C>G, XM_011532655.1:c.10992C>T, XM_011532654.1:c.11586C>G, XM_011532654.1:c.11586C>T, XM_011532657.1:c.10713C>G, XM_011532657.1:c.10713C>T, XM_047443589.1:c.10713C>G, XM_047443589.1:c.10713C>T, XM_047443590.1:c.9984C>G, XM_047443590.1:c.9984C>T, NP_001361.1:p.Phe3992Leu, XP_011530952.1:p.Phe3992Leu, XP_006712019.1:p.Phe3992Leu, XP_011530951.1:p.Phe3992Leu, XP_011530954.1:p.Phe3950Leu, XP_011530955.1:p.Phe3943Leu, XP_016859010.1:p.Phe3901Leu, XP_011530957.1:p.Phe3664Leu, XP_011530956.1:p.Phe3862Leu, XP_011530959.1:p.Phe3571Leu, XP_047299545.1:p.Phe3571Leu, XP_047299546.1:p.Phe3328Leu

                                      19.

                                      rs1485975808 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        2:84624272 (GRCh38)
                                        2:84851396 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:84624271:A:T
                                        Gene:
                                        DNAH6 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.84624272A>T, NC_000002.11:g.84851396A>T, NG_050957.1:g.169733A>T, NM_001370.2:c.4079A>T, NM_001370.1:c.4079A>T, XM_011532650.4:c.4079A>T, XM_011532650.3:c.4079A>T, XM_011532650.2:c.4079A>T, XM_011532650.1:c.4079A>T, XM_006711956.3:c.4079A>T, XM_006711956.2:c.4079A>T, XM_006711956.1:c.4079A>T, XM_011532649.3:c.4079A>T, XM_011532649.2:c.4079A>T, XM_011532649.1:c.4079A>T, XM_011532653.2:c.4079A>T, XM_011532653.1:c.4079A>T, XM_011532655.2:c.3095A>T, XM_011532655.1:c.3095A>T, XM_011532660.2:c.4079A>T, XM_011532660.1:c.4079A>T, XM_017003524.2:c.4079A>T, XM_017003524.1:c.4079A>T, XM_011532654.1:c.3689A>T, XM_011532657.1:c.2816A>T, XM_047443589.1:c.2816A>T, XM_047443590.1:c.2087A>T, NP_001361.1:p.Asn1360Ile, XP_011530952.1:p.Asn1360Ile, XP_006712019.1:p.Asn1360Ile, XP_011530951.1:p.Asn1360Ile, XP_011530955.1:p.Asn1360Ile, XP_011530957.1:p.Asn1032Ile, XP_011530962.1:p.Asn1360Ile, XP_016859013.1:p.Asn1360Ile, XP_011530956.1:p.Asn1230Ile, XP_011530959.1:p.Asn939Ile, XP_047299545.1:p.Asn939Ile, XP_047299546.1:p.Asn696Ile

                                        20.

                                        rs1485965653 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:84688527 (GRCh38)
                                          2:84915651 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:84688526:A:G
                                          Gene:
                                          DNAH6 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.84688527A>G, NC_000002.11:g.84915651A>G, NG_050957.1:g.233988A>G, NM_001370.2:c.7226A>G, NM_001370.1:c.7226A>G, XM_011532650.4:c.7226A>G, XM_011532650.3:c.7226A>G, XM_011532650.2:c.7226A>G, XM_011532650.1:c.7226A>G, XM_006711956.3:c.7226A>G, XM_006711956.2:c.7226A>G, XM_006711956.1:c.7226A>G, XM_011532649.3:c.7226A>G, XM_011532649.2:c.7226A>G, XM_011532649.1:c.7226A>G, XM_011532652.2:c.7100A>G, XM_011532652.1:c.7100A>G, XM_011532653.2:c.7079A>G, XM_011532653.1:c.7079A>G, XM_017003521.2:c.6953A>G, XM_017003521.1:c.6953A>G, XM_011532655.2:c.6242A>G, XM_011532655.1:c.6242A>G, XM_011532654.1:c.6836A>G, XM_011532657.1:c.5963A>G, XM_047443589.1:c.5963A>G, XM_047443590.1:c.5234A>G, NM_145299.1:c.1142A>G, NP_001361.1:p.Tyr2409Cys, XP_011530952.1:p.Tyr2409Cys, XP_006712019.1:p.Tyr2409Cys, XP_011530951.1:p.Tyr2409Cys, XP_011530954.1:p.Tyr2367Cys, XP_011530955.1:p.Tyr2360Cys, XP_016859010.1:p.Tyr2318Cys, XP_011530957.1:p.Tyr2081Cys, XP_011530956.1:p.Tyr2279Cys, XP_011530959.1:p.Tyr1988Cys, XP_047299545.1:p.Tyr1988Cys, XP_047299546.1:p.Tyr1745Cys

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