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Items: 1 to 20 of 2887

1.

rs1490814831 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    2:195906702 (GRCh38)
    2:196771426 (GRCh37)
    Canonical SPDI:
    NC_000002.12:195906701:T:G
    Gene:
    DNAH7 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000002.12:g.195906702T>G, NC_000002.11:g.196771426T>G, XM_011511488.4:c.4172A>C, XM_011511488.3:c.4172A>C, XM_011511488.2:c.4172A>C, XM_011511488.1:c.4172A>C, XM_011511490.4:c.4292A>C, XM_011511490.3:c.4292A>C, XM_011511490.2:c.4292A>C, XM_011511490.1:c.4292A>C, XM_011511491.4:c.4292A>C, XM_011511491.3:c.4292A>C, XM_011511491.2:c.4292A>C, XM_011511491.1:c.4292A>C, XM_011511492.4:c.4292A>C, XM_011511492.3:c.4292A>C, XM_011511492.2:c.4292A>C, XM_011511492.1:c.4292A>C, XR_922968.4:n.4418A>C, XR_922968.3:n.4393A>C, XR_922968.2:n.5565A>C, XR_922968.1:n.5853A>C, XM_011511493.4:c.4292A>C, XM_011511493.3:c.4292A>C, XM_011511493.2:c.4292A>C, XM_011511493.1:c.4292A>C, XM_011511494.4:c.4292A>C, XM_011511494.3:c.4292A>C, XM_011511494.2:c.4292A>C, XM_011511494.1:c.4292A>C, XM_011511495.4:c.4292A>C, XM_011511495.3:c.4292A>C, XM_011511495.2:c.4292A>C, XM_011511495.1:c.4292A>C, NM_018897.3:c.4292A>C, NM_018897.2:c.4292A>C, XM_011511489.3:c.4154A>C, XM_011511489.2:c.4154A>C, XM_011511489.1:c.4154A>C, XM_017004504.3:c.4019A>C, XM_017004504.2:c.4019A>C, XM_017004504.1:c.4019A>C, XP_011509790.1:p.Asn1391Thr, XP_011509792.1:p.Asn1431Thr, XP_011509793.1:p.Asn1431Thr, XP_011509794.1:p.Asn1431Thr, XP_011509795.1:p.Asn1431Thr, XP_011509796.1:p.Asn1431Thr, XP_011509797.1:p.Asn1431Thr, NP_061720.2:p.Asn1431Thr, XP_011509791.1:p.Asn1385Thr, XP_016859993.1:p.Asn1340Thr

    2.

    rs1490609966 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:195872277 (GRCh38)
      2:196737001 (GRCh37)
      Canonical SPDI:
      NC_000002.12:195872276:T:C
      Gene:
      DNAH7 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.195872277T>C, NC_000002.11:g.196737001T>C, XM_011511488.4:c.6486A>G, XM_011511488.3:c.6486A>G, XM_011511488.2:c.6486A>G, XM_011511488.1:c.6486A>G, XM_011511490.4:c.6381A>G, XM_011511490.3:c.6381A>G, XM_011511490.2:c.6381A>G, XM_011511490.1:c.6381A>G, XM_011511491.4:c.6606A>G, XM_011511491.3:c.6606A>G, XM_011511491.2:c.6606A>G, XM_011511491.1:c.6606A>G, XM_011511492.4:c.6606A>G, XM_011511492.3:c.6606A>G, XM_011511492.2:c.6606A>G, XM_011511492.1:c.6606A>G, XR_922968.4:n.6732A>G, XR_922968.3:n.6707A>G, XR_922968.2:n.7879A>G, XR_922968.1:n.8167A>G, XM_011511493.4:c.6606A>G, XM_011511493.3:c.6606A>G, XM_011511493.2:c.6606A>G, XM_011511493.1:c.6606A>G, XM_011511494.4:c.6606A>G, XM_011511494.3:c.6606A>G, XM_011511494.2:c.6606A>G, XM_011511494.1:c.6606A>G, XM_011511495.4:c.6606A>G, XM_011511495.3:c.6606A>G, XM_011511495.2:c.6606A>G, XM_011511495.1:c.6606A>G, NM_018897.3:c.6606A>G, NM_018897.2:c.6606A>G, XM_011511489.3:c.6468A>G, XM_011511489.2:c.6468A>G, XM_011511489.1:c.6468A>G, XM_017004504.3:c.6333A>G, XM_017004504.2:c.6333A>G, XM_017004504.1:c.6333A>G, XM_011511497.3:c.978A>G, XM_011511497.2:c.978A>G, XM_011511497.1:c.978A>G

      3.

      rs1490345189 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:195864534 (GRCh38)
        2:196729258 (GRCh37)
        Canonical SPDI:
        NC_000002.12:195864533:G:A
        Gene:
        DNAH7 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.195864534G>A, NC_000002.11:g.196729258G>A, XM_011511488.4:c.7001C>T, XM_011511488.3:c.7001C>T, XM_011511488.2:c.7001C>T, XM_011511488.1:c.7001C>T, XM_011511490.4:c.6896C>T, XM_011511490.3:c.6896C>T, XM_011511490.2:c.6896C>T, XM_011511490.1:c.6896C>T, XM_011511491.4:c.7121C>T, XM_011511491.3:c.7121C>T, XM_011511491.2:c.7121C>T, XM_011511491.1:c.7121C>T, XM_011511492.4:c.7121C>T, XM_011511492.3:c.7121C>T, XM_011511492.2:c.7121C>T, XM_011511492.1:c.7121C>T, XR_922968.4:n.7247C>T, XR_922968.3:n.7222C>T, XR_922968.2:n.8394C>T, XR_922968.1:n.8682C>T, XM_011511493.4:c.7121C>T, XM_011511493.3:c.7121C>T, XM_011511493.2:c.7121C>T, XM_011511493.1:c.7121C>T, XM_011511494.4:c.7121C>T, XM_011511494.3:c.7121C>T, XM_011511494.2:c.7121C>T, XM_011511494.1:c.7121C>T, XM_011511495.4:c.7121C>T, XM_011511495.3:c.7121C>T, XM_011511495.2:c.7121C>T, XM_011511495.1:c.7121C>T, NM_018897.3:c.7121C>T, NM_018897.2:c.7121C>T, XM_011511489.3:c.6983C>T, XM_011511489.2:c.6983C>T, XM_011511489.1:c.6983C>T, XM_017004504.3:c.6848C>T, XM_017004504.2:c.6848C>T, XM_017004504.1:c.6848C>T, XM_011511497.3:c.1493C>T, XM_011511497.2:c.1493C>T, XM_011511497.1:c.1493C>T, XP_011509790.1:p.Thr2334Ile, XP_011509792.1:p.Thr2299Ile, XP_011509793.1:p.Thr2374Ile, XP_011509794.1:p.Thr2374Ile, XP_011509795.1:p.Thr2374Ile, XP_011509796.1:p.Thr2374Ile, XP_011509797.1:p.Thr2374Ile, NP_061720.2:p.Thr2374Ile, XP_011509791.1:p.Thr2328Ile, XP_016859993.1:p.Thr2283Ile, XP_011509799.1:p.Thr498Ile

        4.

        rs1489692267 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:195873686 (GRCh38)
          2:196738410 (GRCh37)
          Canonical SPDI:
          NC_000002.12:195873685:G:A
          Gene:
          DNAH7 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,stop_gained,coding_sequence_variant
          HGVS:
          NC_000002.12:g.195873686G>A, NC_000002.11:g.196738410G>A, XM_011511488.4:c.6175C>T, XM_011511488.3:c.6175C>T, XM_011511488.2:c.6175C>T, XM_011511488.1:c.6175C>T, XM_011511490.4:c.6070C>T, XM_011511490.3:c.6070C>T, XM_011511490.2:c.6070C>T, XM_011511490.1:c.6070C>T, XM_011511491.4:c.6295C>T, XM_011511491.3:c.6295C>T, XM_011511491.2:c.6295C>T, XM_011511491.1:c.6295C>T, XM_011511492.4:c.6295C>T, XM_011511492.3:c.6295C>T, XM_011511492.2:c.6295C>T, XM_011511492.1:c.6295C>T, XR_922968.4:n.6421C>T, XR_922968.3:n.6396C>T, XR_922968.2:n.7568C>T, XR_922968.1:n.7856C>T, XM_011511493.4:c.6295C>T, XM_011511493.3:c.6295C>T, XM_011511493.2:c.6295C>T, XM_011511493.1:c.6295C>T, XM_011511494.4:c.6295C>T, XM_011511494.3:c.6295C>T, XM_011511494.2:c.6295C>T, XM_011511494.1:c.6295C>T, XM_011511495.4:c.6295C>T, XM_011511495.3:c.6295C>T, XM_011511495.2:c.6295C>T, XM_011511495.1:c.6295C>T, NM_018897.3:c.6295C>T, NM_018897.2:c.6295C>T, XM_011511489.3:c.6157C>T, XM_011511489.2:c.6157C>T, XM_011511489.1:c.6157C>T, XM_017004504.3:c.6022C>T, XM_017004504.2:c.6022C>T, XM_017004504.1:c.6022C>T, XM_011511497.3:c.667C>T, XM_011511497.2:c.667C>T, XM_011511497.1:c.667C>T, XP_011509790.1:p.Arg2059Ter, XP_011509792.1:p.Arg2024Ter, XP_011509793.1:p.Arg2099Ter, XP_011509794.1:p.Arg2099Ter, XP_011509795.1:p.Arg2099Ter, XP_011509796.1:p.Arg2099Ter, XP_011509797.1:p.Arg2099Ter, NP_061720.2:p.Arg2099Ter, XP_011509791.1:p.Arg2053Ter, XP_016859993.1:p.Arg2008Ter, XP_011509799.1:p.Arg223Ter

          5.

          rs1489032769 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            2:195876686 (GRCh38)
            2:196741410 (GRCh37)
            Canonical SPDI:
            NC_000002.12:195876685:TTT:TT
            Gene:
            DNAH7 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TT=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.195876688del, NC_000002.11:g.196741412del, XM_011511488.4:c.5855del, XM_011511488.3:c.5855del, XM_011511488.2:c.5855del, XM_011511488.1:c.5855del, XM_011511490.4:c.5750del, XM_011511490.3:c.5750del, XM_011511490.2:c.5750del, XM_011511490.1:c.5750del, XM_011511491.4:c.5975del, XM_011511491.3:c.5975del, XM_011511491.2:c.5975del, XM_011511491.1:c.5975del, XM_011511492.4:c.5975del, XM_011511492.3:c.5975del, XM_011511492.2:c.5975del, XM_011511492.1:c.5975del, XR_922968.4:n.6101del, XR_922968.3:n.6076del, XR_922968.2:n.7248del, XR_922968.1:n.7536del, XM_011511493.4:c.5975del, XM_011511493.3:c.5975del, XM_011511493.2:c.5975del, XM_011511493.1:c.5975del, XM_011511494.4:c.5975del, XM_011511494.3:c.5975del, XM_011511494.2:c.5975del, XM_011511494.1:c.5975del, XM_011511495.4:c.5975del, XM_011511495.3:c.5975del, XM_011511495.2:c.5975del, XM_011511495.1:c.5975del, NM_018897.3:c.5975del, NM_018897.2:c.5975del, XM_011511489.3:c.5837del, XM_011511489.2:c.5837del, XM_011511489.1:c.5837del, XM_017004504.3:c.5702del, XM_017004504.2:c.5702del, XM_017004504.1:c.5702del, XM_011511497.3:c.347del, XM_011511497.2:c.347del, XM_011511497.1:c.347del, XP_011509790.1:p.Asn1952fs, XP_011509792.1:p.Asn1917fs, XP_011509793.1:p.Asn1992fs, XP_011509794.1:p.Asn1992fs, XP_011509795.1:p.Asn1992fs, XP_011509796.1:p.Asn1992fs, XP_011509797.1:p.Asn1992fs, NP_061720.2:p.Asn1992fs, XP_011509791.1:p.Asn1946fs, XP_016859993.1:p.Asn1901fs, XP_011509799.1:p.Asn116fs

            6.

            rs1489024277 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:196048325 (GRCh38)
              2:196913049 (GRCh37)
              Canonical SPDI:
              NC_000002.12:196048324:G:A
              Gene:
              DNAH7 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000002.12:g.196048325G>A, NC_000002.11:g.196913049G>A, XM_011511488.4:c.221C>T, XM_011511488.3:c.221C>T, XM_011511488.2:c.221C>T, XM_011511488.1:c.221C>T, XM_011511490.4:c.221C>T, XM_011511490.3:c.221C>T, XM_011511490.2:c.221C>T, XM_011511490.1:c.221C>T, XM_011511491.4:c.221C>T, XM_011511491.3:c.221C>T, XM_011511491.2:c.221C>T, XM_011511491.1:c.221C>T, XM_011511492.4:c.221C>T, XM_011511492.3:c.221C>T, XM_011511492.2:c.221C>T, XM_011511492.1:c.221C>T, XR_922968.4:n.347C>T, XR_922968.3:n.322C>T, XR_922968.2:n.1494C>T, XR_922968.1:n.1782C>T, XM_011511493.4:c.221C>T, XM_011511493.3:c.221C>T, XM_011511493.2:c.221C>T, XM_011511493.1:c.221C>T, XM_011511494.4:c.221C>T, XM_011511494.3:c.221C>T, XM_011511494.2:c.221C>T, XM_011511494.1:c.221C>T, XM_011511495.4:c.221C>T, XM_011511495.3:c.221C>T, XM_011511495.2:c.221C>T, XM_011511495.1:c.221C>T, NM_018897.3:c.221C>T, NM_018897.2:c.221C>T, XM_011511489.3:c.83C>T, XM_011511489.2:c.83C>T, XM_011511489.1:c.83C>T, XM_017004504.3:c.221C>T, XM_017004504.2:c.221C>T, XM_017004504.1:c.221C>T, XP_011509790.1:p.Pro74Leu, XP_011509792.1:p.Pro74Leu, XP_011509793.1:p.Pro74Leu, XP_011509794.1:p.Pro74Leu, XP_011509795.1:p.Pro74Leu, XP_011509796.1:p.Pro74Leu, XP_011509797.1:p.Pro74Leu, NP_061720.2:p.Pro74Leu, XP_011509791.1:p.Pro28Leu, XP_016859993.1:p.Pro74Leu

              7.

              rs1488548017 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                2:195936661 (GRCh38)
                2:196801385 (GRCh37)
                Canonical SPDI:
                NC_000002.12:195936660:T:A,NC_000002.12:195936660:T:G
                Gene:
                DNAH7 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.195936661T>A, NC_000002.12:g.195936661T>G, NC_000002.11:g.196801385T>A, NC_000002.11:g.196801385T>G, XM_011511488.4:c.3090A>T, XM_011511488.4:c.3090A>C, XM_011511488.3:c.3090A>T, XM_011511488.3:c.3090A>C, XM_011511488.2:c.3090A>T, XM_011511488.2:c.3090A>C, XM_011511488.1:c.3090A>T, XM_011511488.1:c.3090A>C, XM_011511490.4:c.3210A>T, XM_011511490.4:c.3210A>C, XM_011511490.3:c.3210A>T, XM_011511490.3:c.3210A>C, XM_011511490.2:c.3210A>T, XM_011511490.2:c.3210A>C, XM_011511490.1:c.3210A>T, XM_011511490.1:c.3210A>C, XM_011511491.4:c.3210A>T, XM_011511491.4:c.3210A>C, XM_011511491.3:c.3210A>T, XM_011511491.3:c.3210A>C, XM_011511491.2:c.3210A>T, XM_011511491.2:c.3210A>C, XM_011511491.1:c.3210A>T, XM_011511491.1:c.3210A>C, XM_011511492.4:c.3210A>T, XM_011511492.4:c.3210A>C, XM_011511492.3:c.3210A>T, XM_011511492.3:c.3210A>C, XM_011511492.2:c.3210A>T, XM_011511492.2:c.3210A>C, XM_011511492.1:c.3210A>T, XM_011511492.1:c.3210A>C, XR_922968.4:n.3336A>T, XR_922968.4:n.3336A>C, XR_922968.3:n.3311A>T, XR_922968.3:n.3311A>C, XR_922968.2:n.4483A>T, XR_922968.2:n.4483A>C, XR_922968.1:n.4771A>T, XR_922968.1:n.4771A>C, XM_011511493.4:c.3210A>T, XM_011511493.4:c.3210A>C, XM_011511493.3:c.3210A>T, XM_011511493.3:c.3210A>C, XM_011511493.2:c.3210A>T, XM_011511493.2:c.3210A>C, XM_011511493.1:c.3210A>T, XM_011511493.1:c.3210A>C, XM_011511494.4:c.3210A>T, XM_011511494.4:c.3210A>C, XM_011511494.3:c.3210A>T, XM_011511494.3:c.3210A>C, XM_011511494.2:c.3210A>T, XM_011511494.2:c.3210A>C, XM_011511494.1:c.3210A>T, XM_011511494.1:c.3210A>C, XM_011511495.4:c.3210A>T, XM_011511495.4:c.3210A>C, XM_011511495.3:c.3210A>T, XM_011511495.3:c.3210A>C, XM_011511495.2:c.3210A>T, XM_011511495.2:c.3210A>C, XM_011511495.1:c.3210A>T, XM_011511495.1:c.3210A>C, NM_018897.3:c.3210A>T, NM_018897.3:c.3210A>C, NM_018897.2:c.3210A>T, NM_018897.2:c.3210A>C, XM_011511489.3:c.3072A>T, XM_011511489.3:c.3072A>C, XM_011511489.2:c.3072A>T, XM_011511489.2:c.3072A>C, XM_011511489.1:c.3072A>T, XM_011511489.1:c.3072A>C, XM_017004504.3:c.2937A>T, XM_017004504.3:c.2937A>C, XM_017004504.2:c.2937A>T, XM_017004504.2:c.2937A>C, XM_017004504.1:c.2937A>T, XM_017004504.1:c.2937A>C, XP_011509790.1:p.Arg1030Ser, XP_011509790.1:p.Arg1030Ser, XP_011509792.1:p.Arg1070Ser, XP_011509792.1:p.Arg1070Ser, XP_011509793.1:p.Arg1070Ser, XP_011509793.1:p.Arg1070Ser, XP_011509794.1:p.Arg1070Ser, XP_011509794.1:p.Arg1070Ser, XP_011509795.1:p.Arg1070Ser, XP_011509795.1:p.Arg1070Ser, XP_011509796.1:p.Arg1070Ser, XP_011509796.1:p.Arg1070Ser, XP_011509797.1:p.Arg1070Ser, XP_011509797.1:p.Arg1070Ser, NP_061720.2:p.Arg1070Ser, NP_061720.2:p.Arg1070Ser, XP_011509791.1:p.Arg1024Ser, XP_011509791.1:p.Arg1024Ser, XP_016859993.1:p.Arg979Ser, XP_016859993.1:p.Arg979Ser

                8.

                rs1488008501 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  2:195910145 (GRCh38)
                  2:196774869 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:195910144:G:A,NC_000002.12:195910144:G:T
                  Gene:
                  DNAH7 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000002.12:g.195910145G>A, NC_000002.12:g.195910145G>T, NC_000002.11:g.196774869G>A, NC_000002.11:g.196774869G>T, XM_011511488.4:c.3866C>T, XM_011511488.4:c.3866C>A, XM_011511488.3:c.3866C>T, XM_011511488.3:c.3866C>A, XM_011511488.2:c.3866C>T, XM_011511488.2:c.3866C>A, XM_011511488.1:c.3866C>T, XM_011511488.1:c.3866C>A, XM_011511490.4:c.3986C>T, XM_011511490.4:c.3986C>A, XM_011511490.3:c.3986C>T, XM_011511490.3:c.3986C>A, XM_011511490.2:c.3986C>T, XM_011511490.2:c.3986C>A, XM_011511490.1:c.3986C>T, XM_011511490.1:c.3986C>A, XM_011511491.4:c.3986C>T, XM_011511491.4:c.3986C>A, XM_011511491.3:c.3986C>T, XM_011511491.3:c.3986C>A, XM_011511491.2:c.3986C>T, XM_011511491.2:c.3986C>A, XM_011511491.1:c.3986C>T, XM_011511491.1:c.3986C>A, XM_011511492.4:c.3986C>T, XM_011511492.4:c.3986C>A, XM_011511492.3:c.3986C>T, XM_011511492.3:c.3986C>A, XM_011511492.2:c.3986C>T, XM_011511492.2:c.3986C>A, XM_011511492.1:c.3986C>T, XM_011511492.1:c.3986C>A, XR_922968.4:n.4112C>T, XR_922968.4:n.4112C>A, XR_922968.3:n.4087C>T, XR_922968.3:n.4087C>A, XR_922968.2:n.5259C>T, XR_922968.2:n.5259C>A, XR_922968.1:n.5547C>T, XR_922968.1:n.5547C>A, XM_011511493.4:c.3986C>T, XM_011511493.4:c.3986C>A, XM_011511493.3:c.3986C>T, XM_011511493.3:c.3986C>A, XM_011511493.2:c.3986C>T, XM_011511493.2:c.3986C>A, XM_011511493.1:c.3986C>T, XM_011511493.1:c.3986C>A, XM_011511494.4:c.3986C>T, XM_011511494.4:c.3986C>A, XM_011511494.3:c.3986C>T, XM_011511494.3:c.3986C>A, XM_011511494.2:c.3986C>T, XM_011511494.2:c.3986C>A, XM_011511494.1:c.3986C>T, XM_011511494.1:c.3986C>A, XM_011511495.4:c.3986C>T, XM_011511495.4:c.3986C>A, XM_011511495.3:c.3986C>T, XM_011511495.3:c.3986C>A, XM_011511495.2:c.3986C>T, XM_011511495.2:c.3986C>A, XM_011511495.1:c.3986C>T, XM_011511495.1:c.3986C>A, NM_018897.3:c.3986C>T, NM_018897.3:c.3986C>A, NM_018897.2:c.3986C>T, NM_018897.2:c.3986C>A, XM_011511489.3:c.3848C>T, XM_011511489.3:c.3848C>A, XM_011511489.2:c.3848C>T, XM_011511489.2:c.3848C>A, XM_011511489.1:c.3848C>T, XM_011511489.1:c.3848C>A, XM_017004504.3:c.3713C>T, XM_017004504.3:c.3713C>A, XM_017004504.2:c.3713C>T, XM_017004504.2:c.3713C>A, XM_017004504.1:c.3713C>T, XM_017004504.1:c.3713C>A, XP_011509790.1:p.Pro1289Leu, XP_011509790.1:p.Pro1289Gln, XP_011509792.1:p.Pro1329Leu, XP_011509792.1:p.Pro1329Gln, XP_011509793.1:p.Pro1329Leu, XP_011509793.1:p.Pro1329Gln, XP_011509794.1:p.Pro1329Leu, XP_011509794.1:p.Pro1329Gln, XP_011509795.1:p.Pro1329Leu, XP_011509795.1:p.Pro1329Gln, XP_011509796.1:p.Pro1329Leu, XP_011509796.1:p.Pro1329Gln, XP_011509797.1:p.Pro1329Leu, XP_011509797.1:p.Pro1329Gln, NP_061720.2:p.Pro1329Leu, NP_061720.2:p.Pro1329Gln, XP_011509791.1:p.Pro1283Leu, XP_011509791.1:p.Pro1283Gln, XP_016859993.1:p.Pro1238Leu, XP_016859993.1:p.Pro1238Gln

                  9.

                  rs1487565986 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:195858518 (GRCh38)
                    2:196723242 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:195858517:T:C
                    Gene:
                    DNAH7 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.195858518T>C, NC_000002.11:g.196723242T>C, NG_082777.1:g.398T>C, XM_011511488.4:c.7903A>G, XM_011511488.3:c.7903A>G, XM_011511488.2:c.7903A>G, XM_011511488.1:c.7903A>G, XM_011511490.4:c.7798A>G, XM_011511490.3:c.7798A>G, XM_011511490.2:c.7798A>G, XM_011511490.1:c.7798A>G, XM_011511491.4:c.8023A>G, XM_011511491.3:c.8023A>G, XM_011511491.2:c.8023A>G, XM_011511491.1:c.8023A>G, XM_011511492.4:c.8023A>G, XM_011511492.3:c.8023A>G, XM_011511492.2:c.8023A>G, XM_011511492.1:c.8023A>G, XR_922968.4:n.8149A>G, XR_922968.3:n.8124A>G, XR_922968.2:n.9296A>G, XR_922968.1:n.9584A>G, XM_011511493.4:c.8023A>G, XM_011511493.3:c.8023A>G, XM_011511493.2:c.8023A>G, XM_011511493.1:c.8023A>G, XM_011511494.4:c.8023A>G, XM_011511494.3:c.8023A>G, XM_011511494.2:c.8023A>G, XM_011511494.1:c.8023A>G, XM_011511495.4:c.8023A>G, XM_011511495.3:c.8023A>G, XM_011511495.2:c.8023A>G, XM_011511495.1:c.8023A>G, NM_018897.3:c.8023A>G, NM_018897.2:c.8023A>G, XM_011511489.3:c.7885A>G, XM_011511489.2:c.7885A>G, XM_011511489.1:c.7885A>G, XM_017004504.3:c.7750A>G, XM_017004504.2:c.7750A>G, XM_017004504.1:c.7750A>G, XM_011511497.3:c.2395A>G, XM_011511497.2:c.2395A>G, XM_011511497.1:c.2395A>G, XP_011509790.1:p.Ile2635Val, XP_011509792.1:p.Ile2600Val, XP_011509793.1:p.Ile2675Val, XP_011509794.1:p.Ile2675Val, XP_011509795.1:p.Ile2675Val, XP_011509796.1:p.Ile2675Val, XP_011509797.1:p.Ile2675Val, NP_061720.2:p.Ile2675Val, XP_011509791.1:p.Ile2629Val, XP_016859993.1:p.Ile2584Val, XP_011509799.1:p.Ile799Val

                    10.

                    rs1487461606 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:196026929 (GRCh38)
                      2:196891653 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:196026928:A:G
                      Gene:
                      DNAH7 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.196026929A>G, NC_000002.11:g.196891653A>G, XM_011511488.4:c.498T>C, XM_011511488.3:c.498T>C, XM_011511488.2:c.498T>C, XM_011511488.1:c.498T>C, XM_011511490.4:c.498T>C, XM_011511490.3:c.498T>C, XM_011511490.2:c.498T>C, XM_011511490.1:c.498T>C, XM_011511491.4:c.498T>C, XM_011511491.3:c.498T>C, XM_011511491.2:c.498T>C, XM_011511491.1:c.498T>C, XM_011511492.4:c.498T>C, XM_011511492.3:c.498T>C, XM_011511492.2:c.498T>C, XM_011511492.1:c.498T>C, XR_922968.4:n.624T>C, XR_922968.3:n.599T>C, XR_922968.2:n.1771T>C, XR_922968.1:n.2059T>C, XM_011511493.4:c.498T>C, XM_011511493.3:c.498T>C, XM_011511493.2:c.498T>C, XM_011511493.1:c.498T>C, XM_011511494.4:c.498T>C, XM_011511494.3:c.498T>C, XM_011511494.2:c.498T>C, XM_011511494.1:c.498T>C, XM_011511495.4:c.498T>C, XM_011511495.3:c.498T>C, XM_011511495.2:c.498T>C, XM_011511495.1:c.498T>C, NM_018897.3:c.498T>C, NM_018897.2:c.498T>C, XM_011511489.3:c.360T>C, XM_011511489.2:c.360T>C, XM_011511489.1:c.360T>C, XM_017004504.3:c.498T>C, XM_017004504.2:c.498T>C, XM_017004504.1:c.498T>C

                      11.

                      rs1487304891 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:195881832 (GRCh38)
                        2:196746556 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:195881831:A:G
                        Gene:
                        DNAH7 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (GnomAD_exomes)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000002.12:g.195881832A>G, NC_000002.11:g.196746556A>G, XM_011511488.4:c.5804T>C, XM_011511488.3:c.5804T>C, XM_011511488.2:c.5804T>C, XM_011511488.1:c.5804T>C, XM_011511490.4:c.5699T>C, XM_011511490.3:c.5699T>C, XM_011511490.2:c.5699T>C, XM_011511490.1:c.5699T>C, XM_011511491.4:c.5924T>C, XM_011511491.3:c.5924T>C, XM_011511491.2:c.5924T>C, XM_011511491.1:c.5924T>C, XM_011511492.4:c.5924T>C, XM_011511492.3:c.5924T>C, XM_011511492.2:c.5924T>C, XM_011511492.1:c.5924T>C, XR_922968.4:n.6050T>C, XR_922968.3:n.6025T>C, XR_922968.2:n.7197T>C, XR_922968.1:n.7485T>C, XM_011511493.4:c.5924T>C, XM_011511493.3:c.5924T>C, XM_011511493.2:c.5924T>C, XM_011511493.1:c.5924T>C, XM_011511494.4:c.5924T>C, XM_011511494.3:c.5924T>C, XM_011511494.2:c.5924T>C, XM_011511494.1:c.5924T>C, XM_011511495.4:c.5924T>C, XM_011511495.3:c.5924T>C, XM_011511495.2:c.5924T>C, XM_011511495.1:c.5924T>C, NM_018897.3:c.5924T>C, NM_018897.2:c.5924T>C, XM_011511489.3:c.5786T>C, XM_011511489.2:c.5786T>C, XM_011511489.1:c.5786T>C, XM_017004504.3:c.5651T>C, XM_017004504.2:c.5651T>C, XM_017004504.1:c.5651T>C, XM_011511497.3:c.296T>C, XM_011511497.2:c.296T>C, XM_011511497.1:c.296T>C, XP_011509790.1:p.Val1935Ala, XP_011509792.1:p.Val1900Ala, XP_011509793.1:p.Val1975Ala, XP_011509794.1:p.Val1975Ala, XP_011509795.1:p.Val1975Ala, XP_011509796.1:p.Val1975Ala, XP_011509797.1:p.Val1975Ala, NP_061720.2:p.Val1975Ala, XP_011509791.1:p.Val1929Ala, XP_016859993.1:p.Val1884Ala, XP_011509799.1:p.Val99Ala

                        12.

                        rs1487014283 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          2:195906769 (GRCh38)
                          2:196771493 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:195906768:C:G,NC_000002.12:195906768:C:T
                          Gene:
                          DNAH7 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.195906769C>G, NC_000002.12:g.195906769C>T, NC_000002.11:g.196771493C>G, NC_000002.11:g.196771493C>T, XM_011511488.4:c.4105G>C, XM_011511488.4:c.4105G>A, XM_011511488.3:c.4105G>C, XM_011511488.3:c.4105G>A, XM_011511488.2:c.4105G>C, XM_011511488.2:c.4105G>A, XM_011511488.1:c.4105G>C, XM_011511488.1:c.4105G>A, XM_011511490.4:c.4225G>C, XM_011511490.4:c.4225G>A, XM_011511490.3:c.4225G>C, XM_011511490.3:c.4225G>A, XM_011511490.2:c.4225G>C, XM_011511490.2:c.4225G>A, XM_011511490.1:c.4225G>C, XM_011511490.1:c.4225G>A, XM_011511491.4:c.4225G>C, XM_011511491.4:c.4225G>A, XM_011511491.3:c.4225G>C, XM_011511491.3:c.4225G>A, XM_011511491.2:c.4225G>C, XM_011511491.2:c.4225G>A, XM_011511491.1:c.4225G>C, XM_011511491.1:c.4225G>A, XM_011511492.4:c.4225G>C, XM_011511492.4:c.4225G>A, XM_011511492.3:c.4225G>C, XM_011511492.3:c.4225G>A, XM_011511492.2:c.4225G>C, XM_011511492.2:c.4225G>A, XM_011511492.1:c.4225G>C, XM_011511492.1:c.4225G>A, XR_922968.4:n.4351G>C, XR_922968.4:n.4351G>A, XR_922968.3:n.4326G>C, XR_922968.3:n.4326G>A, XR_922968.2:n.5498G>C, XR_922968.2:n.5498G>A, XR_922968.1:n.5786G>C, XR_922968.1:n.5786G>A, XM_011511493.4:c.4225G>C, XM_011511493.4:c.4225G>A, XM_011511493.3:c.4225G>C, XM_011511493.3:c.4225G>A, XM_011511493.2:c.4225G>C, XM_011511493.2:c.4225G>A, XM_011511493.1:c.4225G>C, XM_011511493.1:c.4225G>A, XM_011511494.4:c.4225G>C, XM_011511494.4:c.4225G>A, XM_011511494.3:c.4225G>C, XM_011511494.3:c.4225G>A, XM_011511494.2:c.4225G>C, XM_011511494.2:c.4225G>A, XM_011511494.1:c.4225G>C, XM_011511494.1:c.4225G>A, XM_011511495.4:c.4225G>C, XM_011511495.4:c.4225G>A, XM_011511495.3:c.4225G>C, XM_011511495.3:c.4225G>A, XM_011511495.2:c.4225G>C, XM_011511495.2:c.4225G>A, XM_011511495.1:c.4225G>C, XM_011511495.1:c.4225G>A, NM_018897.3:c.4225G>C, NM_018897.3:c.4225G>A, NM_018897.2:c.4225G>C, NM_018897.2:c.4225G>A, XM_011511489.3:c.4087G>C, XM_011511489.3:c.4087G>A, XM_011511489.2:c.4087G>C, XM_011511489.2:c.4087G>A, XM_011511489.1:c.4087G>C, XM_011511489.1:c.4087G>A, XM_017004504.3:c.3952G>C, XM_017004504.3:c.3952G>A, XM_017004504.2:c.3952G>C, XM_017004504.2:c.3952G>A, XM_017004504.1:c.3952G>C, XM_017004504.1:c.3952G>A, XP_011509790.1:p.Asp1369His, XP_011509790.1:p.Asp1369Asn, XP_011509792.1:p.Asp1409His, XP_011509792.1:p.Asp1409Asn, XP_011509793.1:p.Asp1409His, XP_011509793.1:p.Asp1409Asn, XP_011509794.1:p.Asp1409His, XP_011509794.1:p.Asp1409Asn, XP_011509795.1:p.Asp1409His, XP_011509795.1:p.Asp1409Asn, XP_011509796.1:p.Asp1409His, XP_011509796.1:p.Asp1409Asn, XP_011509797.1:p.Asp1409His, XP_011509797.1:p.Asp1409Asn, NP_061720.2:p.Asp1409His, NP_061720.2:p.Asp1409Asn, XP_011509791.1:p.Asp1363His, XP_011509791.1:p.Asp1363Asn, XP_016859993.1:p.Asp1318His, XP_016859993.1:p.Asp1318Asn

                          13.

                          rs1486834011 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:196000757 (GRCh38)
                            2:196865481 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:196000756:T:C
                            Gene:
                            DNAH7 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.196000757T>C, NC_000002.11:g.196865481T>C, XM_011511488.4:c.1180A>G, XM_011511488.3:c.1180A>G, XM_011511488.2:c.1180A>G, XM_011511488.1:c.1180A>G, XM_011511490.4:c.1300A>G, XM_011511490.3:c.1300A>G, XM_011511490.2:c.1300A>G, XM_011511490.1:c.1300A>G, XM_011511491.4:c.1300A>G, XM_011511491.3:c.1300A>G, XM_011511491.2:c.1300A>G, XM_011511491.1:c.1300A>G, XM_011511492.4:c.1300A>G, XM_011511492.3:c.1300A>G, XM_011511492.2:c.1300A>G, XM_011511492.1:c.1300A>G, XR_922968.4:n.1426A>G, XR_922968.3:n.1401A>G, XR_922968.2:n.2573A>G, XR_922968.1:n.2861A>G, XM_011511493.4:c.1300A>G, XM_011511493.3:c.1300A>G, XM_011511493.2:c.1300A>G, XM_011511493.1:c.1300A>G, XM_011511494.4:c.1300A>G, XM_011511494.3:c.1300A>G, XM_011511494.2:c.1300A>G, XM_011511494.1:c.1300A>G, XM_011511495.4:c.1300A>G, XM_011511495.3:c.1300A>G, XM_011511495.2:c.1300A>G, XM_011511495.1:c.1300A>G, NM_018897.3:c.1300A>G, NM_018897.2:c.1300A>G, XM_011511489.3:c.1162A>G, XM_011511489.2:c.1162A>G, XM_011511489.1:c.1162A>G, XM_017004504.3:c.1300A>G, XM_017004504.2:c.1300A>G, XM_017004504.1:c.1300A>G, XP_011509790.1:p.Ile394Val, XP_011509792.1:p.Ile434Val, XP_011509793.1:p.Ile434Val, XP_011509794.1:p.Ile434Val, XP_011509795.1:p.Ile434Val, XP_011509796.1:p.Ile434Val, XP_011509797.1:p.Ile434Val, NP_061720.2:p.Ile434Val, XP_011509791.1:p.Ile388Val, XP_016859993.1:p.Ile434Val

                            14.

                            rs1486808441 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              2:196001685 (GRCh38)
                              2:196866409 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:196001684:G:A,NC_000002.12:196001684:G:T
                              Gene:
                              DNAH7 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.196001685G>A, NC_000002.12:g.196001685G>T, NC_000002.11:g.196866409G>A, NC_000002.11:g.196866409G>T, XM_011511488.4:c.1043C>T, XM_011511488.4:c.1043C>A, XM_011511488.3:c.1043C>T, XM_011511488.3:c.1043C>A, XM_011511488.2:c.1043C>T, XM_011511488.2:c.1043C>A, XM_011511488.1:c.1043C>T, XM_011511488.1:c.1043C>A, XM_011511490.4:c.1163C>T, XM_011511490.4:c.1163C>A, XM_011511490.3:c.1163C>T, XM_011511490.3:c.1163C>A, XM_011511490.2:c.1163C>T, XM_011511490.2:c.1163C>A, XM_011511490.1:c.1163C>T, XM_011511490.1:c.1163C>A, XM_011511491.4:c.1163C>T, XM_011511491.4:c.1163C>A, XM_011511491.3:c.1163C>T, XM_011511491.3:c.1163C>A, XM_011511491.2:c.1163C>T, XM_011511491.2:c.1163C>A, XM_011511491.1:c.1163C>T, XM_011511491.1:c.1163C>A, XM_011511492.4:c.1163C>T, XM_011511492.4:c.1163C>A, XM_011511492.3:c.1163C>T, XM_011511492.3:c.1163C>A, XM_011511492.2:c.1163C>T, XM_011511492.2:c.1163C>A, XM_011511492.1:c.1163C>T, XM_011511492.1:c.1163C>A, XR_922968.4:n.1289C>T, XR_922968.4:n.1289C>A, XR_922968.3:n.1264C>T, XR_922968.3:n.1264C>A, XR_922968.2:n.2436C>T, XR_922968.2:n.2436C>A, XR_922968.1:n.2724C>T, XR_922968.1:n.2724C>A, XM_011511493.4:c.1163C>T, XM_011511493.4:c.1163C>A, XM_011511493.3:c.1163C>T, XM_011511493.3:c.1163C>A, XM_011511493.2:c.1163C>T, XM_011511493.2:c.1163C>A, XM_011511493.1:c.1163C>T, XM_011511493.1:c.1163C>A, XM_011511494.4:c.1163C>T, XM_011511494.4:c.1163C>A, XM_011511494.3:c.1163C>T, XM_011511494.3:c.1163C>A, XM_011511494.2:c.1163C>T, XM_011511494.2:c.1163C>A, XM_011511494.1:c.1163C>T, XM_011511494.1:c.1163C>A, XM_011511495.4:c.1163C>T, XM_011511495.4:c.1163C>A, XM_011511495.3:c.1163C>T, XM_011511495.3:c.1163C>A, XM_011511495.2:c.1163C>T, XM_011511495.2:c.1163C>A, XM_011511495.1:c.1163C>T, XM_011511495.1:c.1163C>A, NM_018897.3:c.1163C>T, NM_018897.3:c.1163C>A, NM_018897.2:c.1163C>T, NM_018897.2:c.1163C>A, XM_011511489.3:c.1025C>T, XM_011511489.3:c.1025C>A, XM_011511489.2:c.1025C>T, XM_011511489.2:c.1025C>A, XM_011511489.1:c.1025C>T, XM_011511489.1:c.1025C>A, XM_017004504.3:c.1163C>T, XM_017004504.3:c.1163C>A, XM_017004504.2:c.1163C>T, XM_017004504.2:c.1163C>A, XM_017004504.1:c.1163C>T, XM_017004504.1:c.1163C>A, XP_011509790.1:p.Ala348Val, XP_011509790.1:p.Ala348Glu, XP_011509792.1:p.Ala388Val, XP_011509792.1:p.Ala388Glu, XP_011509793.1:p.Ala388Val, XP_011509793.1:p.Ala388Glu, XP_011509794.1:p.Ala388Val, XP_011509794.1:p.Ala388Glu, XP_011509795.1:p.Ala388Val, XP_011509795.1:p.Ala388Glu, XP_011509796.1:p.Ala388Val, XP_011509796.1:p.Ala388Glu, XP_011509797.1:p.Ala388Val, XP_011509797.1:p.Ala388Glu, NP_061720.2:p.Ala388Val, NP_061720.2:p.Ala388Glu, XP_011509791.1:p.Ala342Val, XP_011509791.1:p.Ala342Glu, XP_016859993.1:p.Ala388Val, XP_016859993.1:p.Ala388Glu

                              15.

                              rs1486775050 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                2:195895064 (GRCh38)
                                2:196759788 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:195895063:T:
                                Gene:
                                DNAH7 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.000111/1 (ALFA)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000002.12:g.195895064del, NC_000002.11:g.196759788del, XM_011511488.4:c.4688del, XM_011511488.3:c.4688del, XM_011511488.2:c.4688del, XM_011511488.1:c.4688del, XM_011511490.4:c.4808del, XM_011511490.3:c.4808del, XM_011511490.2:c.4808del, XM_011511490.1:c.4808del, XM_011511491.4:c.4808del, XM_011511491.3:c.4808del, XM_011511491.2:c.4808del, XM_011511491.1:c.4808del, XM_011511492.4:c.4808del, XM_011511492.3:c.4808del, XM_011511492.2:c.4808del, XM_011511492.1:c.4808del, XR_922968.4:n.4934del, XR_922968.3:n.4909del, XR_922968.2:n.6081del, XR_922968.1:n.6369del, XM_011511493.4:c.4808del, XM_011511493.3:c.4808del, XM_011511493.2:c.4808del, XM_011511493.1:c.4808del, XM_011511494.4:c.4808del, XM_011511494.3:c.4808del, XM_011511494.2:c.4808del, XM_011511494.1:c.4808del, XM_011511495.4:c.4808del, XM_011511495.3:c.4808del, XM_011511495.2:c.4808del, XM_011511495.1:c.4808del, NM_018897.3:c.4808del, NM_018897.2:c.4808del, XM_011511489.3:c.4670del, XM_011511489.2:c.4670del, XM_011511489.1:c.4670del, XM_017004504.3:c.4535del, XM_017004504.2:c.4535del, XM_017004504.1:c.4535del, XP_011509790.1:p.His1563fs, XP_011509792.1:p.His1603fs, XP_011509793.1:p.His1603fs, XP_011509794.1:p.His1603fs, XP_011509795.1:p.His1603fs, XP_011509796.1:p.His1603fs, XP_011509797.1:p.His1603fs, NP_061720.2:p.His1603fs, XP_011509791.1:p.His1557fs, XP_016859993.1:p.His1512fs

                                16.

                                rs1486769187 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:195858592 (GRCh38)
                                  2:196723316 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:195858591:A:G
                                  Gene:
                                  DNAH7 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.195858592A>G, NC_000002.11:g.196723316A>G, NG_082777.1:g.472A>G, XM_011511488.4:c.7829T>C, XM_011511488.3:c.7829T>C, XM_011511488.2:c.7829T>C, XM_011511488.1:c.7829T>C, XM_011511490.4:c.7724T>C, XM_011511490.3:c.7724T>C, XM_011511490.2:c.7724T>C, XM_011511490.1:c.7724T>C, XM_011511491.4:c.7949T>C, XM_011511491.3:c.7949T>C, XM_011511491.2:c.7949T>C, XM_011511491.1:c.7949T>C, XM_011511492.4:c.7949T>C, XM_011511492.3:c.7949T>C, XM_011511492.2:c.7949T>C, XM_011511492.1:c.7949T>C, XR_922968.4:n.8075T>C, XR_922968.3:n.8050T>C, XR_922968.2:n.9222T>C, XR_922968.1:n.9510T>C, XM_011511493.4:c.7949T>C, XM_011511493.3:c.7949T>C, XM_011511493.2:c.7949T>C, XM_011511493.1:c.7949T>C, XM_011511494.4:c.7949T>C, XM_011511494.3:c.7949T>C, XM_011511494.2:c.7949T>C, XM_011511494.1:c.7949T>C, XM_011511495.4:c.7949T>C, XM_011511495.3:c.7949T>C, XM_011511495.2:c.7949T>C, XM_011511495.1:c.7949T>C, NM_018897.3:c.7949T>C, NM_018897.2:c.7949T>C, XM_011511489.3:c.7811T>C, XM_011511489.2:c.7811T>C, XM_011511489.1:c.7811T>C, XM_017004504.3:c.7676T>C, XM_017004504.2:c.7676T>C, XM_017004504.1:c.7676T>C, XM_011511497.3:c.2321T>C, XM_011511497.2:c.2321T>C, XM_011511497.1:c.2321T>C, XP_011509790.1:p.Ile2610Thr, XP_011509792.1:p.Ile2575Thr, XP_011509793.1:p.Ile2650Thr, XP_011509794.1:p.Ile2650Thr, XP_011509795.1:p.Ile2650Thr, XP_011509796.1:p.Ile2650Thr, XP_011509797.1:p.Ile2650Thr, NP_061720.2:p.Ile2650Thr, XP_011509791.1:p.Ile2604Thr, XP_016859993.1:p.Ile2559Thr, XP_011509799.1:p.Ile774Thr

                                  17.

                                  rs1485475219 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    2:195926433 (GRCh38)
                                    2:196791157 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:195926432:C:A,NC_000002.12:195926432:C:T
                                    Gene:
                                    DNAH7 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    T=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.195926433C>A, NC_000002.12:g.195926433C>T, NC_000002.11:g.196791157C>A, NC_000002.11:g.196791157C>T, XM_011511488.4:c.3485G>T, XM_011511488.4:c.3485G>A, XM_011511488.3:c.3485G>T, XM_011511488.3:c.3485G>A, XM_011511488.2:c.3485G>T, XM_011511488.2:c.3485G>A, XM_011511488.1:c.3485G>T, XM_011511488.1:c.3485G>A, XM_011511490.4:c.3605G>T, XM_011511490.4:c.3605G>A, XM_011511490.3:c.3605G>T, XM_011511490.3:c.3605G>A, XM_011511490.2:c.3605G>T, XM_011511490.2:c.3605G>A, XM_011511490.1:c.3605G>T, XM_011511490.1:c.3605G>A, XM_011511491.4:c.3605G>T, XM_011511491.4:c.3605G>A, XM_011511491.3:c.3605G>T, XM_011511491.3:c.3605G>A, XM_011511491.2:c.3605G>T, XM_011511491.2:c.3605G>A, XM_011511491.1:c.3605G>T, XM_011511491.1:c.3605G>A, XM_011511492.4:c.3605G>T, XM_011511492.4:c.3605G>A, XM_011511492.3:c.3605G>T, XM_011511492.3:c.3605G>A, XM_011511492.2:c.3605G>T, XM_011511492.2:c.3605G>A, XM_011511492.1:c.3605G>T, XM_011511492.1:c.3605G>A, XR_922968.4:n.3731G>T, XR_922968.4:n.3731G>A, XR_922968.3:n.3706G>T, XR_922968.3:n.3706G>A, XR_922968.2:n.4878G>T, XR_922968.2:n.4878G>A, XR_922968.1:n.5166G>T, XR_922968.1:n.5166G>A, XM_011511493.4:c.3605G>T, XM_011511493.4:c.3605G>A, XM_011511493.3:c.3605G>T, XM_011511493.3:c.3605G>A, XM_011511493.2:c.3605G>T, XM_011511493.2:c.3605G>A, XM_011511493.1:c.3605G>T, XM_011511493.1:c.3605G>A, XM_011511494.4:c.3605G>T, XM_011511494.4:c.3605G>A, XM_011511494.3:c.3605G>T, XM_011511494.3:c.3605G>A, XM_011511494.2:c.3605G>T, XM_011511494.2:c.3605G>A, XM_011511494.1:c.3605G>T, XM_011511494.1:c.3605G>A, XM_011511495.4:c.3605G>T, XM_011511495.4:c.3605G>A, XM_011511495.3:c.3605G>T, XM_011511495.3:c.3605G>A, XM_011511495.2:c.3605G>T, XM_011511495.2:c.3605G>A, XM_011511495.1:c.3605G>T, XM_011511495.1:c.3605G>A, NM_018897.3:c.3605G>T, NM_018897.3:c.3605G>A, NM_018897.2:c.3605G>T, NM_018897.2:c.3605G>A, XM_011511489.3:c.3467G>T, XM_011511489.3:c.3467G>A, XM_011511489.2:c.3467G>T, XM_011511489.2:c.3467G>A, XM_011511489.1:c.3467G>T, XM_011511489.1:c.3467G>A, XM_017004504.3:c.3332G>T, XM_017004504.3:c.3332G>A, XM_017004504.2:c.3332G>T, XM_017004504.2:c.3332G>A, XM_017004504.1:c.3332G>T, XM_017004504.1:c.3332G>A, XP_011509790.1:p.Gly1162Val, XP_011509790.1:p.Gly1162Glu, XP_011509792.1:p.Gly1202Val, XP_011509792.1:p.Gly1202Glu, XP_011509793.1:p.Gly1202Val, XP_011509793.1:p.Gly1202Glu, XP_011509794.1:p.Gly1202Val, XP_011509794.1:p.Gly1202Glu, XP_011509795.1:p.Gly1202Val, XP_011509795.1:p.Gly1202Glu, XP_011509796.1:p.Gly1202Val, XP_011509796.1:p.Gly1202Glu, XP_011509797.1:p.Gly1202Val, XP_011509797.1:p.Gly1202Glu, NP_061720.2:p.Gly1202Val, NP_061720.2:p.Gly1202Glu, XP_011509791.1:p.Gly1156Val, XP_011509791.1:p.Gly1156Glu, XP_016859993.1:p.Gly1111Val, XP_016859993.1:p.Gly1111Glu

                                    18.

                                    rs1485296067 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      2:195987082 (GRCh38)
                                      2:196851806 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:195987081:G:C
                                      Gene:
                                      DNAH7 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000002.12:g.195987082G>C, NC_000002.11:g.196851806G>C, XM_011511488.4:c.1618C>G, XM_011511488.3:c.1618C>G, XM_011511488.2:c.1618C>G, XM_011511488.1:c.1618C>G, XM_011511490.4:c.1738C>G, XM_011511490.3:c.1738C>G, XM_011511490.2:c.1738C>G, XM_011511490.1:c.1738C>G, XM_011511491.4:c.1738C>G, XM_011511491.3:c.1738C>G, XM_011511491.2:c.1738C>G, XM_011511491.1:c.1738C>G, XM_011511492.4:c.1738C>G, XM_011511492.3:c.1738C>G, XM_011511492.2:c.1738C>G, XM_011511492.1:c.1738C>G, XR_922968.4:n.1864C>G, XR_922968.3:n.1839C>G, XR_922968.2:n.3011C>G, XR_922968.1:n.3299C>G, XM_011511493.4:c.1738C>G, XM_011511493.3:c.1738C>G, XM_011511493.2:c.1738C>G, XM_011511493.1:c.1738C>G, XM_011511494.4:c.1738C>G, XM_011511494.3:c.1738C>G, XM_011511494.2:c.1738C>G, XM_011511494.1:c.1738C>G, XM_011511495.4:c.1738C>G, XM_011511495.3:c.1738C>G, XM_011511495.2:c.1738C>G, XM_011511495.1:c.1738C>G, NM_018897.3:c.1738C>G, NM_018897.2:c.1738C>G, XM_011511489.3:c.1600C>G, XM_011511489.2:c.1600C>G, XM_011511489.1:c.1600C>G, XM_017004504.3:c.1465C>G, XM_017004504.2:c.1465C>G, XM_017004504.1:c.1465C>G, XP_011509790.1:p.Gln540Glu, XP_011509792.1:p.Gln580Glu, XP_011509793.1:p.Gln580Glu, XP_011509794.1:p.Gln580Glu, XP_011509795.1:p.Gln580Glu, XP_011509796.1:p.Gln580Glu, XP_011509797.1:p.Gln580Glu, NP_061720.2:p.Gln580Glu, XP_011509791.1:p.Gln534Glu, XP_016859993.1:p.Gln489Glu

                                      19.

                                      rs1484903494 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        2:195873582 (GRCh38)
                                        2:196738306 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:195873581:C:A,NC_000002.12:195873581:C:G
                                        Gene:
                                        DNAH7 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.195873582C>A, NC_000002.12:g.195873582C>G, NC_000002.11:g.196738306C>A, NC_000002.11:g.196738306C>G, XM_011511488.4:c.6279G>T, XM_011511488.4:c.6279G>C, XM_011511488.3:c.6279G>T, XM_011511488.3:c.6279G>C, XM_011511488.2:c.6279G>T, XM_011511488.2:c.6279G>C, XM_011511488.1:c.6279G>T, XM_011511488.1:c.6279G>C, XM_011511490.4:c.6174G>T, XM_011511490.4:c.6174G>C, XM_011511490.3:c.6174G>T, XM_011511490.3:c.6174G>C, XM_011511490.2:c.6174G>T, XM_011511490.2:c.6174G>C, XM_011511490.1:c.6174G>T, XM_011511490.1:c.6174G>C, XM_011511491.4:c.6399G>T, XM_011511491.4:c.6399G>C, XM_011511491.3:c.6399G>T, XM_011511491.3:c.6399G>C, XM_011511491.2:c.6399G>T, XM_011511491.2:c.6399G>C, XM_011511491.1:c.6399G>T, XM_011511491.1:c.6399G>C, XM_011511492.4:c.6399G>T, XM_011511492.4:c.6399G>C, XM_011511492.3:c.6399G>T, XM_011511492.3:c.6399G>C, XM_011511492.2:c.6399G>T, XM_011511492.2:c.6399G>C, XM_011511492.1:c.6399G>T, XM_011511492.1:c.6399G>C, XR_922968.4:n.6525G>T, XR_922968.4:n.6525G>C, XR_922968.3:n.6500G>T, XR_922968.3:n.6500G>C, XR_922968.2:n.7672G>T, XR_922968.2:n.7672G>C, XR_922968.1:n.7960G>T, XR_922968.1:n.7960G>C, XM_011511493.4:c.6399G>T, XM_011511493.4:c.6399G>C, XM_011511493.3:c.6399G>T, XM_011511493.3:c.6399G>C, XM_011511493.2:c.6399G>T, XM_011511493.2:c.6399G>C, XM_011511493.1:c.6399G>T, XM_011511493.1:c.6399G>C, XM_011511494.4:c.6399G>T, XM_011511494.4:c.6399G>C, XM_011511494.3:c.6399G>T, XM_011511494.3:c.6399G>C, XM_011511494.2:c.6399G>T, XM_011511494.2:c.6399G>C, XM_011511494.1:c.6399G>T, XM_011511494.1:c.6399G>C, XM_011511495.4:c.6399G>T, XM_011511495.4:c.6399G>C, XM_011511495.3:c.6399G>T, XM_011511495.3:c.6399G>C, XM_011511495.2:c.6399G>T, XM_011511495.2:c.6399G>C, XM_011511495.1:c.6399G>T, XM_011511495.1:c.6399G>C, NM_018897.3:c.6399G>T, NM_018897.3:c.6399G>C, NM_018897.2:c.6399G>T, NM_018897.2:c.6399G>C, XM_011511489.3:c.6261G>T, XM_011511489.3:c.6261G>C, XM_011511489.2:c.6261G>T, XM_011511489.2:c.6261G>C, XM_011511489.1:c.6261G>T, XM_011511489.1:c.6261G>C, XM_017004504.3:c.6126G>T, XM_017004504.3:c.6126G>C, XM_017004504.2:c.6126G>T, XM_017004504.2:c.6126G>C, XM_017004504.1:c.6126G>T, XM_017004504.1:c.6126G>C, XM_011511497.3:c.771G>T, XM_011511497.3:c.771G>C, XM_011511497.2:c.771G>T, XM_011511497.2:c.771G>C, XM_011511497.1:c.771G>T, XM_011511497.1:c.771G>C, XP_011509790.1:p.Trp2093Cys, XP_011509790.1:p.Trp2093Cys, XP_011509792.1:p.Trp2058Cys, XP_011509792.1:p.Trp2058Cys, XP_011509793.1:p.Trp2133Cys, XP_011509793.1:p.Trp2133Cys, XP_011509794.1:p.Trp2133Cys, XP_011509794.1:p.Trp2133Cys, XP_011509795.1:p.Trp2133Cys, XP_011509795.1:p.Trp2133Cys, XP_011509796.1:p.Trp2133Cys, XP_011509796.1:p.Trp2133Cys, XP_011509797.1:p.Trp2133Cys, XP_011509797.1:p.Trp2133Cys, NP_061720.2:p.Trp2133Cys, NP_061720.2:p.Trp2133Cys, XP_011509791.1:p.Trp2087Cys, XP_011509791.1:p.Trp2087Cys, XP_016859993.1:p.Trp2042Cys, XP_016859993.1:p.Trp2042Cys, XP_011509799.1:p.Trp257Cys, XP_011509799.1:p.Trp257Cys

                                        20.

                                        rs1484609475 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          2:196047377 (GRCh38)
                                          2:196912102 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:196047377:AAA:AAAA
                                          Gene:
                                          DNAH7 (Varview)
                                          Functional Consequence:
                                          stop_gained,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AAAA=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.196047380dup, NC_000002.11:g.196912104dup, XM_011511488.4:c.372dup, XM_011511488.3:c.372dup, XM_011511488.2:c.372dup, XM_011511488.1:c.372dup, XM_011511490.4:c.372dup, XM_011511490.3:c.372dup, XM_011511490.2:c.372dup, XM_011511490.1:c.372dup, XM_011511491.4:c.372dup, XM_011511491.3:c.372dup, XM_011511491.2:c.372dup, XM_011511491.1:c.372dup, XM_011511492.4:c.372dup, XM_011511492.3:c.372dup, XM_011511492.2:c.372dup, XM_011511492.1:c.372dup, XR_922968.4:n.498dup, XR_922968.3:n.473dup, XR_922968.2:n.1645dup, XR_922968.1:n.1933dup, XM_011511493.4:c.372dup, XM_011511493.3:c.372dup, XM_011511493.2:c.372dup, XM_011511493.1:c.372dup, XM_011511494.4:c.372dup, XM_011511494.3:c.372dup, XM_011511494.2:c.372dup, XM_011511494.1:c.372dup, XM_011511495.4:c.372dup, XM_011511495.3:c.372dup, XM_011511495.2:c.372dup, XM_011511495.1:c.372dup, NM_018897.3:c.372dup, NM_018897.2:c.372dup, XM_011511489.3:c.234dup, XM_011511489.2:c.234dup, XM_011511489.1:c.234dup, XM_017004504.3:c.372dup, XM_017004504.2:c.372dup, XM_017004504.1:c.372dup, XP_011509790.1:p.Arg125Ter, XP_011509792.1:p.Arg125Ter, XP_011509793.1:p.Arg125Ter, XP_011509794.1:p.Arg125Ter, XP_011509795.1:p.Arg125Ter, XP_011509796.1:p.Arg125Ter, XP_011509797.1:p.Arg125Ter, NP_061720.2:p.Arg125Ter, XP_011509791.1:p.Arg79Ter, XP_016859993.1:p.Arg125Ter

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