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Items: 1 to 20 of 3726

1.

rs1490937488 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:225318668 (GRCh38)
    1:225506370 (GRCh37)
    Canonical SPDI:
    NC_000001.11:225318667:C:A
    Gene:
    DNAH14 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000008/2 (TOPMED)
    A=0.000013/2 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.225318668C>A, NC_000001.10:g.225506370C>A, NG_053088.1:g.395247C>A, NM_001367479.1:c.9326C>A, XM_006711735.4:c.9233C>A, XM_006711735.3:c.9233C>A, XM_006711735.2:c.9233C>A, XM_006711735.1:c.9233C>A, XM_011544073.3:c.7574C>A, XM_011544073.2:c.7574C>A, XM_011544073.1:c.7574C>A, XM_011544058.3:c.9323C>A, XM_011544058.2:c.9323C>A, XM_011544058.1:c.9323C>A, XM_011544059.3:c.9278C>A, XM_011544059.2:c.9278C>A, XM_011544059.1:c.9278C>A, XM_011544061.3:c.9221C>A, XM_011544061.2:c.9221C>A, XM_011544061.1:c.9221C>A, XM_011544062.3:c.9326C>A, XM_011544062.2:c.9326C>A, XM_011544062.1:c.9326C>A, XM_011544063.3:c.9167C>A, XM_011544063.2:c.9167C>A, XM_011544063.1:c.9167C>A, XM_011544064.3:c.9158C>A, XM_011544064.2:c.9158C>A, XM_011544064.1:c.9158C>A, XM_011544065.3:c.9134C>A, XM_011544065.2:c.9134C>A, XM_011544065.1:c.9134C>A, XM_011544066.3:c.9110C>A, XM_011544066.2:c.9110C>A, XM_011544066.1:c.9110C>A, XM_011544067.3:c.9326C>A, XM_011544067.2:c.9326C>A, XM_011544067.1:c.9326C>A, XM_011544069.3:c.8972C>A, XM_011544069.2:c.8972C>A, XM_011544069.1:c.8972C>A, XM_011544070.3:c.8948C>A, XM_011544070.2:c.8948C>A, XM_011544070.1:c.8948C>A, XM_011544071.3:c.8798C>A, XM_011544071.2:c.8798C>A, XM_011544071.1:c.8798C>A, XM_011544072.3:c.8009C>A, XM_011544072.2:c.8009C>A, XM_011544072.1:c.8009C>A, XM_011544074.3:c.6944C>A, XM_011544074.2:c.6944C>A, XM_011544074.1:c.6944C>A, XM_017000295.2:c.9251C>A, XM_017000295.1:c.9251C>A, XM_017000296.2:c.9326C>A, XM_017000296.1:c.9326C>A, XM_017000297.2:c.9209C>A, XM_017000297.1:c.9209C>A, XM_017000298.2:c.9326C>A, XM_017000298.1:c.9326C>A, XM_011544076.2:c.6173C>A, XM_011544076.1:c.6173C>A, XM_017000299.2:c.4733C>A, XM_017000299.1:c.4733C>A, XM_011544081.2:c.3884C>A, XM_011544081.1:c.3884C>A, XM_047445624.1:c.9326C>A, NM_001373.1:c.9047C>A, XM_047445671.1:c.2906C>A, NP_001354408.1:p.Ala3109Asp, XP_006711798.1:p.Ala3078Asp, XP_011542375.1:p.Ala2525Asp, XP_011542360.1:p.Ala3108Asp, XP_011542361.1:p.Ala3093Asp, XP_011542363.1:p.Ala3074Asp, XP_011542364.1:p.Ala3109Asp, XP_011542365.1:p.Ala3056Asp, XP_011542366.1:p.Ala3053Asp, XP_011542367.1:p.Ala3045Asp, XP_011542368.1:p.Ala3037Asp, XP_011542369.1:p.Ala3109Asp, XP_011542371.1:p.Ala2991Asp, XP_011542372.1:p.Ala2983Asp, XP_011542373.1:p.Ala2933Asp, XP_011542374.1:p.Ala2670Asp, XP_011542376.1:p.Ala2315Asp, XP_016855784.1:p.Ala3084Asp, XP_016855785.1:p.Ala3109Asp, XP_016855786.1:p.Ala3070Asp, XP_016855787.1:p.Ala3109Asp, XP_011542378.1:p.Ala2058Asp, XP_016855788.1:p.Ala1578Asp, XP_011542383.1:p.Ala1295Asp, XP_047301580.1:p.Ala3109Asp, XP_047301627.1:p.Ala969Asp

    2.

    rs1490703338 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:225399217 (GRCh38)
      1:225586919 (GRCh37)
      Canonical SPDI:
      NC_000001.11:225399216:G:C
      Gene:
      DNAH14 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      C=0.000006/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.225399217G>C, NC_000001.10:g.225586919G>C, NG_053088.1:g.475796G>C, NM_001367479.1:c.13802G>C, XM_006711735.4:c.13709G>C, XM_006711735.3:c.13709G>C, XM_006711735.2:c.13709G>C, XM_006711735.1:c.13709G>C, XM_011544073.3:c.12050G>C, XM_011544073.2:c.12050G>C, XM_011544073.1:c.12050G>C, XM_011544058.3:c.13799G>C, XM_011544058.2:c.13799G>C, XM_011544058.1:c.13799G>C, XM_011544059.3:c.13754G>C, XM_011544059.2:c.13754G>C, XM_011544059.1:c.13754G>C, XM_011544061.3:c.13697G>C, XM_011544061.2:c.13697G>C, XM_011544061.1:c.13697G>C, XM_011544062.3:c.13646G>C, XM_011544062.2:c.13646G>C, XM_011544062.1:c.13646G>C, XM_011544063.3:c.13643G>C, XM_011544063.2:c.13643G>C, XM_011544063.1:c.13643G>C, XM_011544064.3:c.13634G>C, XM_011544064.2:c.13634G>C, XM_011544064.1:c.13634G>C, XM_011544065.3:c.13610G>C, XM_011544065.2:c.13610G>C, XM_011544065.1:c.13610G>C, XM_011544066.3:c.13586G>C, XM_011544066.2:c.13586G>C, XM_011544066.1:c.13586G>C, XM_011544067.3:c.13574G>C, XM_011544067.2:c.13574G>C, XM_011544067.1:c.13574G>C, XM_011544069.3:c.13448G>C, XM_011544069.2:c.13448G>C, XM_011544069.1:c.13448G>C, XM_011544070.3:c.13424G>C, XM_011544070.2:c.13424G>C, XM_011544070.1:c.13424G>C, XM_011544071.3:c.13274G>C, XM_011544071.2:c.13274G>C, XM_011544071.1:c.13274G>C, XM_011544072.3:c.12485G>C, XM_011544072.2:c.12485G>C, XM_011544072.1:c.12485G>C, XM_011544074.3:c.11420G>C, XM_011544074.2:c.11420G>C, XM_011544074.1:c.11420G>C, XM_017000295.2:c.13727G>C, XM_017000295.1:c.13727G>C, XM_017000296.2:c.13703G>C, XM_017000296.1:c.13703G>C, XM_017000297.2:c.13685G>C, XM_017000297.1:c.13685G>C, XM_011544076.2:c.10649G>C, XM_011544076.1:c.10649G>C, XM_017000299.2:c.9209G>C, XM_017000299.1:c.9209G>C, XM_011544081.2:c.8360G>C, XM_011544081.1:c.8360G>C, NM_001373.1:c.13496G>C, XM_047445671.1:c.7382G>C, NP_001354408.1:p.Ser4601Thr, XP_006711798.1:p.Ser4570Thr, XP_011542375.1:p.Ser4017Thr, XP_011542360.1:p.Ser4600Thr, XP_011542361.1:p.Ser4585Thr, XP_011542363.1:p.Ser4566Thr, XP_011542364.1:p.Ser4549Thr, XP_011542365.1:p.Ser4548Thr, XP_011542366.1:p.Ser4545Thr, XP_011542367.1:p.Ser4537Thr, XP_011542368.1:p.Ser4529Thr, XP_011542369.1:p.Ser4525Thr, XP_011542371.1:p.Ser4483Thr, XP_011542372.1:p.Ser4475Thr, XP_011542373.1:p.Ser4425Thr, XP_011542374.1:p.Ser4162Thr, XP_011542376.1:p.Ser3807Thr, XP_016855784.1:p.Ser4576Thr, XP_016855785.1:p.Ser4568Thr, XP_016855786.1:p.Ser4562Thr, XP_011542378.1:p.Ser3550Thr, XP_016855788.1:p.Ser3070Thr, XP_011542383.1:p.Ser2787Thr, XP_047301627.1:p.Ser2461Thr

      3.

      rs1490493593 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:225144551 (GRCh38)
        1:225332253 (GRCh37)
        Canonical SPDI:
        NC_000001.11:225144550:C:T
        Gene:
        DNAH14 (Varview)
        Functional Consequence:
        synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000006/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.225144551C>T, NC_000001.10:g.225332253C>T, NG_053088.1:g.221130C>T, NM_001367479.1:c.4663C>T, XM_006711735.4:c.4663C>T, XM_006711735.3:c.4663C>T, XM_006711735.2:c.4663C>T, XM_006711735.1:c.4663C>T, XM_011544073.3:c.2911C>T, XM_011544073.2:c.2911C>T, XM_011544073.1:c.2911C>T, XM_011544058.3:c.4663C>T, XM_011544058.2:c.4663C>T, XM_011544058.1:c.4663C>T, XM_011544059.3:c.4663C>T, XM_011544059.2:c.4663C>T, XM_011544059.1:c.4663C>T, XM_011544061.3:c.4663C>T, XM_011544061.2:c.4663C>T, XM_011544061.1:c.4663C>T, XM_011544062.3:c.4663C>T, XM_011544062.2:c.4663C>T, XM_011544062.1:c.4663C>T, XM_011544063.3:c.4663C>T, XM_011544063.2:c.4663C>T, XM_011544063.1:c.4663C>T, XM_011544064.3:c.4663C>T, XM_011544064.2:c.4663C>T, XM_011544064.1:c.4663C>T, XM_011544065.3:c.4663C>T, XM_011544065.2:c.4663C>T, XM_011544065.1:c.4663C>T, XM_011544066.3:c.4663C>T, XM_011544066.2:c.4663C>T, XM_011544066.1:c.4663C>T, XM_011544067.3:c.4663C>T, XM_011544067.2:c.4663C>T, XM_011544067.1:c.4663C>T, XM_011544069.3:c.4663C>T, XM_011544069.2:c.4663C>T, XM_011544069.1:c.4663C>T, XM_011544070.3:c.4285C>T, XM_011544070.2:c.4285C>T, XM_011544070.1:c.4285C>T, XM_011544071.3:c.4135C>T, XM_011544071.2:c.4135C>T, XM_011544071.1:c.4135C>T, XM_011544072.3:c.3346C>T, XM_011544072.2:c.3346C>T, XM_011544072.1:c.3346C>T, XM_011544074.3:c.2281C>T, XM_011544074.2:c.2281C>T, XM_011544074.1:c.2281C>T, XM_017000295.2:c.4588C>T, XM_017000295.1:c.4588C>T, XM_017000296.2:c.4663C>T, XM_017000296.1:c.4663C>T, XM_017000297.2:c.4663C>T, XM_017000297.1:c.4663C>T, XM_017000298.2:c.4663C>T, XM_017000298.1:c.4663C>T, XM_011544076.2:c.1510C>T, XM_011544076.1:c.1510C>T, XM_017000299.2:c.70C>T, XM_017000299.1:c.70C>T, XM_047445624.1:c.4663C>T, NM_001373.1:c.4612C>T

        4.

        rs1490493029 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          1:225123597 (GRCh38)
          1:225311299 (GRCh37)
          Canonical SPDI:
          NC_000001.11:225123596:C:A
          Gene:
          DNAH14 (Varview)
          Functional Consequence:
          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.225123597C>A, NC_000001.10:g.225311299C>A, NG_053088.1:g.200176C>A, NM_001367479.1:c.4237C>A, XM_006711735.4:c.4237C>A, XM_006711735.3:c.4237C>A, XM_006711735.2:c.4237C>A, XM_006711735.1:c.4237C>A, XM_011544073.3:c.2485C>A, XM_011544073.2:c.2485C>A, XM_011544073.1:c.2485C>A, XM_011544058.3:c.4237C>A, XM_011544058.2:c.4237C>A, XM_011544058.1:c.4237C>A, XM_011544059.3:c.4237C>A, XM_011544059.2:c.4237C>A, XM_011544059.1:c.4237C>A, XM_011544061.3:c.4237C>A, XM_011544061.2:c.4237C>A, XM_011544061.1:c.4237C>A, XM_011544062.3:c.4237C>A, XM_011544062.2:c.4237C>A, XM_011544062.1:c.4237C>A, XM_011544063.3:c.4237C>A, XM_011544063.2:c.4237C>A, XM_011544063.1:c.4237C>A, XM_011544064.3:c.4237C>A, XM_011544064.2:c.4237C>A, XM_011544064.1:c.4237C>A, XM_011544065.3:c.4237C>A, XM_011544065.2:c.4237C>A, XM_011544065.1:c.4237C>A, XM_011544066.3:c.4237C>A, XM_011544066.2:c.4237C>A, XM_011544066.1:c.4237C>A, XM_011544067.3:c.4237C>A, XM_011544067.2:c.4237C>A, XM_011544067.1:c.4237C>A, XM_011544069.3:c.4237C>A, XM_011544069.2:c.4237C>A, XM_011544069.1:c.4237C>A, XM_011544070.3:c.3859C>A, XM_011544070.2:c.3859C>A, XM_011544070.1:c.3859C>A, XM_011544071.3:c.3709C>A, XM_011544071.2:c.3709C>A, XM_011544071.1:c.3709C>A, XM_011544072.3:c.2920C>A, XM_011544072.2:c.2920C>A, XM_011544072.1:c.2920C>A, XM_011544074.3:c.1855C>A, XM_011544074.2:c.1855C>A, XM_011544074.1:c.1855C>A, XM_017000295.2:c.4162C>A, XM_017000295.1:c.4162C>A, XM_017000296.2:c.4237C>A, XM_017000296.1:c.4237C>A, XM_017000297.2:c.4237C>A, XM_017000297.1:c.4237C>A, XM_017000298.2:c.4237C>A, XM_017000298.1:c.4237C>A, XM_011544076.2:c.1084C>A, XM_011544076.1:c.1084C>A, XM_017000299.2:c.23C>A, XM_017000299.1:c.23C>A, XM_047445624.1:c.4237C>A, NP_001354408.1:p.Gln1413Lys, XP_006711798.1:p.Gln1413Lys, XP_011542375.1:p.Gln829Lys, XP_011542360.1:p.Gln1413Lys, XP_011542361.1:p.Gln1413Lys, XP_011542363.1:p.Gln1413Lys, XP_011542364.1:p.Gln1413Lys, XP_011542365.1:p.Gln1413Lys, XP_011542366.1:p.Gln1413Lys, XP_011542367.1:p.Gln1413Lys, XP_011542368.1:p.Gln1413Lys, XP_011542369.1:p.Gln1413Lys, XP_011542371.1:p.Gln1413Lys, XP_011542372.1:p.Gln1287Lys, XP_011542373.1:p.Gln1237Lys, XP_011542374.1:p.Gln974Lys, XP_011542376.1:p.Gln619Lys, XP_016855784.1:p.Gln1388Lys, XP_016855785.1:p.Gln1413Lys, XP_016855786.1:p.Gln1413Lys, XP_016855787.1:p.Gln1413Lys, XP_011542378.1:p.Gln362Lys, XP_016855788.1:p.Thr8Lys, XP_047301580.1:p.Gln1413Lys

          5.

          rs1490270863 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:225079518 (GRCh38)
            1:225267220 (GRCh37)
            Canonical SPDI:
            NC_000001.11:225079517:A:G
            Gene:
            DNAH14 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000029/4 (GnomAD)
            HGVS:
            NC_000001.11:g.225079518A>G, NC_000001.10:g.225267220A>G, NG_053088.1:g.156097A>G, NM_001367479.1:c.2736A>G, XM_006711735.4:c.2736A>G, XM_006711735.3:c.2736A>G, XM_006711735.2:c.2736A>G, XM_006711735.1:c.2736A>G, XM_011544073.3:c.984A>G, XM_011544073.2:c.984A>G, XM_011544073.1:c.984A>G, XM_011544058.3:c.2736A>G, XM_011544058.2:c.2736A>G, XM_011544058.1:c.2736A>G, XM_011544059.3:c.2736A>G, XM_011544059.2:c.2736A>G, XM_011544059.1:c.2736A>G, XM_011544061.3:c.2736A>G, XM_011544061.2:c.2736A>G, XM_011544061.1:c.2736A>G, XM_011544062.3:c.2736A>G, XM_011544062.2:c.2736A>G, XM_011544062.1:c.2736A>G, XM_011544063.3:c.2736A>G, XM_011544063.2:c.2736A>G, XM_011544063.1:c.2736A>G, XM_011544064.3:c.2736A>G, XM_011544064.2:c.2736A>G, XM_011544064.1:c.2736A>G, XM_011544065.3:c.2736A>G, XM_011544065.2:c.2736A>G, XM_011544065.1:c.2736A>G, XM_011544066.3:c.2736A>G, XM_011544066.2:c.2736A>G, XM_011544066.1:c.2736A>G, XM_011544067.3:c.2736A>G, XM_011544067.2:c.2736A>G, XM_011544067.1:c.2736A>G, XM_011544069.3:c.2736A>G, XM_011544069.2:c.2736A>G, XM_011544069.1:c.2736A>G, XM_011544070.3:c.2358A>G, XM_011544070.2:c.2358A>G, XM_011544070.1:c.2358A>G, XM_011544071.3:c.2208A>G, XM_011544071.2:c.2208A>G, XM_011544071.1:c.2208A>G, XM_011544072.3:c.1419A>G, XM_011544072.2:c.1419A>G, XM_011544072.1:c.1419A>G, XM_011544074.3:c.354A>G, XM_011544074.2:c.354A>G, XM_011544074.1:c.354A>G, XM_017000295.2:c.2736A>G, XM_017000295.1:c.2736A>G, XM_017000296.2:c.2736A>G, XM_017000296.1:c.2736A>G, XM_017000297.2:c.2736A>G, XM_017000297.1:c.2736A>G, XM_017000298.2:c.2736A>G, XM_017000298.1:c.2736A>G, XM_011544076.2:c.-48A>G, XM_011544076.1:c.-48A>G, XM_047445624.1:c.2736A>G, NM_001373.1:c.2736A>G

            6.

            rs1490181827 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              1:225381448 (GRCh38)
              1:225569150 (GRCh37)
              Canonical SPDI:
              NC_000001.11:225381447:AA:
              Gene:
              DNAH14 (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000014/2 (GnomAD)
              -=0.000045/12 (TOPMED)
              -=0.000046/7 (GnomAD_exomes)
              -=0.000142/2 (TOMMO)
              HGVS:
              NC_000001.11:g.225381448_225381449del, NC_000001.10:g.225569150_225569151del, NG_053088.1:g.458027_458028del, NM_001367479.1:c.12946_12947del, XM_006711735.4:c.12853_12854del, XM_006711735.3:c.12853_12854del, XM_006711735.2:c.12853_12854del, XM_006711735.1:c.12853_12854del, XM_011544073.3:c.11194_11195del, XM_011544073.2:c.11194_11195del, XM_011544073.1:c.11194_11195del, XM_011544058.3:c.12943_12944del, XM_011544058.2:c.12943_12944del, XM_011544058.1:c.12943_12944del, XM_011544059.3:c.12898_12899del, XM_011544059.2:c.12898_12899del, XM_011544059.1:c.12898_12899del, XM_011544061.3:c.12841_12842del, XM_011544061.2:c.12841_12842del, XM_011544061.1:c.12841_12842del, XM_011544062.3:c.12790_12791del, XM_011544062.2:c.12790_12791del, XM_011544062.1:c.12790_12791del, XM_011544063.3:c.12787_12788del, XM_011544063.2:c.12787_12788del, XM_011544063.1:c.12787_12788del, XM_011544064.3:c.12778_12779del, XM_011544064.2:c.12778_12779del, XM_011544064.1:c.12778_12779del, XM_011544065.3:c.12754_12755del, XM_011544065.2:c.12754_12755del, XM_011544065.1:c.12754_12755del, XM_011544066.3:c.12730_12731del, XM_011544066.2:c.12730_12731del, XM_011544066.1:c.12730_12731del, XM_011544067.3:c.12718_12719del, XM_011544067.2:c.12718_12719del, XM_011544067.1:c.12718_12719del, XM_011544069.3:c.12592_12593del, XM_011544069.2:c.12592_12593del, XM_011544069.1:c.12592_12593del, XM_011544070.3:c.12568_12569del, XM_011544070.2:c.12568_12569del, XM_011544070.1:c.12568_12569del, XM_011544071.3:c.12418_12419del, XM_011544071.2:c.12418_12419del, XM_011544071.1:c.12418_12419del, XM_011544072.3:c.11629_11630del, XM_011544072.2:c.11629_11630del, XM_011544072.1:c.11629_11630del, XM_011544074.3:c.10564_10565del, XM_011544074.2:c.10564_10565del, XM_011544074.1:c.10564_10565del, XM_017000295.2:c.12871_12872del, XM_017000295.1:c.12871_12872del, XM_017000296.2:c.12847_12848del, XM_017000296.1:c.12847_12848del, XM_017000297.2:c.12829_12830del, XM_017000297.1:c.12829_12830del, XM_011544076.2:c.9793_9794del, XM_011544076.1:c.9793_9794del, XM_017000299.2:c.8353_8354del, XM_017000299.1:c.8353_8354del, XM_011544081.2:c.7504_7505del, XM_011544081.1:c.7504_7505del, XM_047445624.1:c.12946_12947del, NM_001373.1:c.12640_12641del, XM_047445671.1:c.6526_6527del, NP_001354408.1:p.Lys4316fs, XP_006711798.1:p.Lys4285fs, XP_011542375.1:p.Lys3732fs, XP_011542360.1:p.Lys4315fs, XP_011542361.1:p.Lys4300fs, XP_011542363.1:p.Lys4281fs, XP_011542364.1:p.Lys4264fs, XP_011542365.1:p.Lys4263fs, XP_011542366.1:p.Lys4260fs, XP_011542367.1:p.Lys4252fs, XP_011542368.1:p.Lys4244fs, XP_011542369.1:p.Lys4240fs, XP_011542371.1:p.Lys4198fs, XP_011542372.1:p.Lys4190fs, XP_011542373.1:p.Lys4140fs, XP_011542374.1:p.Lys3877fs, XP_011542376.1:p.Lys3522fs, XP_016855784.1:p.Lys4291fs, XP_016855785.1:p.Lys4283fs, XP_016855786.1:p.Lys4277fs, XP_011542378.1:p.Lys3265fs, XP_016855788.1:p.Lys2785fs, XP_011542383.1:p.Lys2502fs, XP_047301580.1:p.Lys4316fs, XP_047301627.1:p.Lys2176fs

              7.

              rs1489999025 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:225140931 (GRCh38)
                1:225328633 (GRCh37)
                Canonical SPDI:
                NC_000001.11:225140930:C:T
                Gene:
                DNAH14 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000006/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.225140931C>T, NC_000001.10:g.225328633C>T, NG_053088.1:g.217510C>T, NM_001367479.1:c.4418C>T, XM_006711735.4:c.4418C>T, XM_006711735.3:c.4418C>T, XM_006711735.2:c.4418C>T, XM_006711735.1:c.4418C>T, XM_011544073.3:c.2666C>T, XM_011544073.2:c.2666C>T, XM_011544073.1:c.2666C>T, XM_011544058.3:c.4418C>T, XM_011544058.2:c.4418C>T, XM_011544058.1:c.4418C>T, XM_011544059.3:c.4418C>T, XM_011544059.2:c.4418C>T, XM_011544059.1:c.4418C>T, XM_011544061.3:c.4418C>T, XM_011544061.2:c.4418C>T, XM_011544061.1:c.4418C>T, XM_011544062.3:c.4418C>T, XM_011544062.2:c.4418C>T, XM_011544062.1:c.4418C>T, XM_011544063.3:c.4418C>T, XM_011544063.2:c.4418C>T, XM_011544063.1:c.4418C>T, XM_011544064.3:c.4418C>T, XM_011544064.2:c.4418C>T, XM_011544064.1:c.4418C>T, XM_011544065.3:c.4418C>T, XM_011544065.2:c.4418C>T, XM_011544065.1:c.4418C>T, XM_011544066.3:c.4418C>T, XM_011544066.2:c.4418C>T, XM_011544066.1:c.4418C>T, XM_011544067.3:c.4418C>T, XM_011544067.2:c.4418C>T, XM_011544067.1:c.4418C>T, XM_011544069.3:c.4418C>T, XM_011544069.2:c.4418C>T, XM_011544069.1:c.4418C>T, XM_011544070.3:c.4040C>T, XM_011544070.2:c.4040C>T, XM_011544070.1:c.4040C>T, XM_011544071.3:c.3890C>T, XM_011544071.2:c.3890C>T, XM_011544071.1:c.3890C>T, XM_011544072.3:c.3101C>T, XM_011544072.2:c.3101C>T, XM_011544072.1:c.3101C>T, XM_011544074.3:c.2036C>T, XM_011544074.2:c.2036C>T, XM_011544074.1:c.2036C>T, XM_017000295.2:c.4343C>T, XM_017000295.1:c.4343C>T, XM_017000296.2:c.4418C>T, XM_017000296.1:c.4418C>T, XM_017000297.2:c.4418C>T, XM_017000297.1:c.4418C>T, XM_017000298.2:c.4418C>T, XM_017000298.1:c.4418C>T, XM_011544076.2:c.1265C>T, XM_011544076.1:c.1265C>T, XM_047445624.1:c.4418C>T, NM_001373.1:c.4367C>T, NP_001354408.1:p.Ala1473Val, XP_006711798.1:p.Ala1473Val, XP_011542375.1:p.Ala889Val, XP_011542360.1:p.Ala1473Val, XP_011542361.1:p.Ala1473Val, XP_011542363.1:p.Ala1473Val, XP_011542364.1:p.Ala1473Val, XP_011542365.1:p.Ala1473Val, XP_011542366.1:p.Ala1473Val, XP_011542367.1:p.Ala1473Val, XP_011542368.1:p.Ala1473Val, XP_011542369.1:p.Ala1473Val, XP_011542371.1:p.Ala1473Val, XP_011542372.1:p.Ala1347Val, XP_011542373.1:p.Ala1297Val, XP_011542374.1:p.Ala1034Val, XP_011542376.1:p.Ala679Val, XP_016855784.1:p.Ala1448Val, XP_016855785.1:p.Ala1473Val, XP_016855786.1:p.Ala1473Val, XP_016855787.1:p.Ala1473Val, XP_011542378.1:p.Ala422Val, XP_047301580.1:p.Ala1473Val

                8.

                rs1489790513 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  1:225307553 (GRCh38)
                  1:225495255 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:225307552:T:A,NC_000001.11:225307552:T:C
                  Gene:
                  DNAH14 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.225307553T>A, NC_000001.11:g.225307553T>C, NC_000001.10:g.225495255T>A, NC_000001.10:g.225495255T>C, NG_053088.1:g.384132T>A, NG_053088.1:g.384132T>C, NM_001367479.1:c.9098T>A, NM_001367479.1:c.9098T>C, XM_006711735.4:c.9005T>A, XM_006711735.4:c.9005T>C, XM_006711735.3:c.9005T>A, XM_006711735.3:c.9005T>C, XM_006711735.2:c.9005T>A, XM_006711735.2:c.9005T>C, XM_006711735.1:c.9005T>A, XM_006711735.1:c.9005T>C, XM_011544073.3:c.7346T>A, XM_011544073.3:c.7346T>C, XM_011544073.2:c.7346T>A, XM_011544073.2:c.7346T>C, XM_011544073.1:c.7346T>A, XM_011544073.1:c.7346T>C, XM_011544058.3:c.9095T>A, XM_011544058.3:c.9095T>C, XM_011544058.2:c.9095T>A, XM_011544058.2:c.9095T>C, XM_011544058.1:c.9095T>A, XM_011544058.1:c.9095T>C, XM_011544059.3:c.9050T>A, XM_011544059.3:c.9050T>C, XM_011544059.2:c.9050T>A, XM_011544059.2:c.9050T>C, XM_011544059.1:c.9050T>A, XM_011544059.1:c.9050T>C, XM_011544061.3:c.8993T>A, XM_011544061.3:c.8993T>C, XM_011544061.2:c.8993T>A, XM_011544061.2:c.8993T>C, XM_011544061.1:c.8993T>A, XM_011544061.1:c.8993T>C, XM_011544062.3:c.9098T>A, XM_011544062.3:c.9098T>C, XM_011544062.2:c.9098T>A, XM_011544062.2:c.9098T>C, XM_011544062.1:c.9098T>A, XM_011544062.1:c.9098T>C, XM_011544063.3:c.8939T>A, XM_011544063.3:c.8939T>C, XM_011544063.2:c.8939T>A, XM_011544063.2:c.8939T>C, XM_011544063.1:c.8939T>A, XM_011544063.1:c.8939T>C, XM_011544064.3:c.8930T>A, XM_011544064.3:c.8930T>C, XM_011544064.2:c.8930T>A, XM_011544064.2:c.8930T>C, XM_011544064.1:c.8930T>A, XM_011544064.1:c.8930T>C, XM_011544065.3:c.8906T>A, XM_011544065.3:c.8906T>C, XM_011544065.2:c.8906T>A, XM_011544065.2:c.8906T>C, XM_011544065.1:c.8906T>A, XM_011544065.1:c.8906T>C, XM_011544066.3:c.8882T>A, XM_011544066.3:c.8882T>C, XM_011544066.2:c.8882T>A, XM_011544066.2:c.8882T>C, XM_011544066.1:c.8882T>A, XM_011544066.1:c.8882T>C, XM_011544067.3:c.9098T>A, XM_011544067.3:c.9098T>C, XM_011544067.2:c.9098T>A, XM_011544067.2:c.9098T>C, XM_011544067.1:c.9098T>A, XM_011544067.1:c.9098T>C, XM_011544069.3:c.8744T>A, XM_011544069.3:c.8744T>C, XM_011544069.2:c.8744T>A, XM_011544069.2:c.8744T>C, XM_011544069.1:c.8744T>A, XM_011544069.1:c.8744T>C, XM_011544070.3:c.8720T>A, XM_011544070.3:c.8720T>C, XM_011544070.2:c.8720T>A, XM_011544070.2:c.8720T>C, XM_011544070.1:c.8720T>A, XM_011544070.1:c.8720T>C, XM_011544071.3:c.8570T>A, XM_011544071.3:c.8570T>C, XM_011544071.2:c.8570T>A, XM_011544071.2:c.8570T>C, XM_011544071.1:c.8570T>A, XM_011544071.1:c.8570T>C, XM_011544072.3:c.7781T>A, XM_011544072.3:c.7781T>C, XM_011544072.2:c.7781T>A, XM_011544072.2:c.7781T>C, XM_011544072.1:c.7781T>A, XM_011544072.1:c.7781T>C, XM_011544074.3:c.6716T>A, XM_011544074.3:c.6716T>C, XM_011544074.2:c.6716T>A, XM_011544074.2:c.6716T>C, XM_011544074.1:c.6716T>A, XM_011544074.1:c.6716T>C, XM_017000295.2:c.9023T>A, XM_017000295.2:c.9023T>C, XM_017000295.1:c.9023T>A, XM_017000295.1:c.9023T>C, XM_017000296.2:c.9098T>A, XM_017000296.2:c.9098T>C, XM_017000296.1:c.9098T>A, XM_017000296.1:c.9098T>C, XM_017000297.2:c.8981T>A, XM_017000297.2:c.8981T>C, XM_017000297.1:c.8981T>A, XM_017000297.1:c.8981T>C, XM_017000298.2:c.9098T>A, XM_017000298.2:c.9098T>C, XM_017000298.1:c.9098T>A, XM_017000298.1:c.9098T>C, XM_011544076.2:c.5945T>A, XM_011544076.2:c.5945T>C, XM_011544076.1:c.5945T>A, XM_011544076.1:c.5945T>C, XM_017000299.2:c.4505T>A, XM_017000299.2:c.4505T>C, XM_017000299.1:c.4505T>A, XM_017000299.1:c.4505T>C, XM_011544081.2:c.3656T>A, XM_011544081.2:c.3656T>C, XM_011544081.1:c.3656T>A, XM_011544081.1:c.3656T>C, XM_047445624.1:c.9098T>A, XM_047445624.1:c.9098T>C, NM_001373.1:c.8819T>A, NM_001373.1:c.8819T>C, XM_047445671.1:c.2678T>A, XM_047445671.1:c.2678T>C, NP_001354408.1:p.Val3033Glu, NP_001354408.1:p.Val3033Ala, XP_006711798.1:p.Val3002Glu, XP_006711798.1:p.Val3002Ala, XP_011542375.1:p.Val2449Glu, XP_011542375.1:p.Val2449Ala, XP_011542360.1:p.Val3032Glu, XP_011542360.1:p.Val3032Ala, XP_011542361.1:p.Val3017Glu, XP_011542361.1:p.Val3017Ala, XP_011542363.1:p.Val2998Glu, XP_011542363.1:p.Val2998Ala, XP_011542364.1:p.Val3033Glu, XP_011542364.1:p.Val3033Ala, XP_011542365.1:p.Val2980Glu, XP_011542365.1:p.Val2980Ala, XP_011542366.1:p.Val2977Glu, XP_011542366.1:p.Val2977Ala, XP_011542367.1:p.Val2969Glu, XP_011542367.1:p.Val2969Ala, XP_011542368.1:p.Val2961Glu, XP_011542368.1:p.Val2961Ala, XP_011542369.1:p.Val3033Glu, XP_011542369.1:p.Val3033Ala, XP_011542371.1:p.Val2915Glu, XP_011542371.1:p.Val2915Ala, XP_011542372.1:p.Val2907Glu, XP_011542372.1:p.Val2907Ala, XP_011542373.1:p.Val2857Glu, XP_011542373.1:p.Val2857Ala, XP_011542374.1:p.Val2594Glu, XP_011542374.1:p.Val2594Ala, XP_011542376.1:p.Val2239Glu, XP_011542376.1:p.Val2239Ala, XP_016855784.1:p.Val3008Glu, XP_016855784.1:p.Val3008Ala, XP_016855785.1:p.Val3033Glu, XP_016855785.1:p.Val3033Ala, XP_016855786.1:p.Val2994Glu, XP_016855786.1:p.Val2994Ala, XP_016855787.1:p.Val3033Glu, XP_016855787.1:p.Val3033Ala, XP_011542378.1:p.Val1982Glu, XP_011542378.1:p.Val1982Ala, XP_016855788.1:p.Val1502Glu, XP_016855788.1:p.Val1502Ala, XP_011542383.1:p.Val1219Glu, XP_011542383.1:p.Val1219Ala, XP_047301580.1:p.Val3033Glu, XP_047301580.1:p.Val3033Ala, XP_047301627.1:p.Val893Glu, XP_047301627.1:p.Val893Ala

                  9.

                  rs1489756993 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    1:225307569 (GRCh38)
                    1:225495271 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:225307568:GG:G
                    Gene:
                    DNAH14 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,splice_donor_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GG=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1489019805 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTAA>- [Show Flanks]
                      Chromosome:
                      1:225333481 (GRCh38)
                      1:225521183 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:225333476:TTAATTAA:TTAA
                      Gene:
                      DNAH14 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTAATTAA=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.225333477TTAA[1], NC_000001.10:g.225521179TTAA[1], NG_053088.1:g.410056TTAA[1], NM_001367479.1:c.10055_10058del, XM_006711735.4:c.9962_9965del, XM_006711735.3:c.9962_9965del, XM_006711735.2:c.9962_9965del, XM_006711735.1:c.9962_9965del, XM_011544073.3:c.8303_8306del, XM_011544073.2:c.8303_8306del, XM_011544073.1:c.8303_8306del, XM_011544058.3:c.10052_10055del, XM_011544058.2:c.10052_10055del, XM_011544058.1:c.10052_10055del, XM_011544059.3:c.10007_10010del, XM_011544059.2:c.10007_10010del, XM_011544059.1:c.10007_10010del, XM_011544061.3:c.9950_9953del, XM_011544061.2:c.9950_9953del, XM_011544061.1:c.9950_9953del, XM_011544062.3:c.10055_10058del, XM_011544062.2:c.10055_10058del, XM_011544062.1:c.10055_10058del, XM_011544063.3:c.9896_9899del, XM_011544063.2:c.9896_9899del, XM_011544063.1:c.9896_9899del, XM_011544064.3:c.9887_9890del, XM_011544064.2:c.9887_9890del, XM_011544064.1:c.9887_9890del, XM_011544065.3:c.9863_9866del, XM_011544065.2:c.9863_9866del, XM_011544065.1:c.9863_9866del, XM_011544066.3:c.9839_9842del, XM_011544066.2:c.9839_9842del, XM_011544066.1:c.9839_9842del, XM_011544067.3:c.10055_10058del, XM_011544067.2:c.10055_10058del, XM_011544067.1:c.10055_10058del, XM_011544069.3:c.9701_9704del, XM_011544069.2:c.9701_9704del, XM_011544069.1:c.9701_9704del, XM_011544070.3:c.9677_9680del, XM_011544070.2:c.9677_9680del, XM_011544070.1:c.9677_9680del, XM_011544071.3:c.9527_9530del, XM_011544071.2:c.9527_9530del, XM_011544071.1:c.9527_9530del, XM_011544072.3:c.8738_8741del, XM_011544072.2:c.8738_8741del, XM_011544072.1:c.8738_8741del, XM_011544074.3:c.7673_7676del, XM_011544074.2:c.7673_7676del, XM_011544074.1:c.7673_7676del, XM_017000295.2:c.9980_9983del, XM_017000295.1:c.9980_9983del, XM_017000296.2:c.10055_10058del, XM_017000296.1:c.10055_10058del, XM_017000297.2:c.9938_9941del, XM_017000297.1:c.9938_9941del, XM_017000298.2:c.10055_10058del, XM_017000298.1:c.10055_10058del, XM_011544076.2:c.6902_6905del, XM_011544076.1:c.6902_6905del, XM_017000299.2:c.5462_5465del, XM_017000299.1:c.5462_5465del, XM_011544081.2:c.4613_4616del, XM_011544081.1:c.4613_4616del, XM_047445624.1:c.10055_10058del, NM_001373.1:c.9776_9779del, XM_047445671.1:c.3635_3638del, NP_001354408.1:p.Ile3352fs, XP_006711798.1:p.Ile3321fs, XP_011542375.1:p.Ile2768fs, XP_011542360.1:p.Ile3351fs, XP_011542361.1:p.Ile3336fs, XP_011542363.1:p.Ile3317fs, XP_011542364.1:p.Ile3352fs, XP_011542365.1:p.Ile3299fs, XP_011542366.1:p.Ile3296fs, XP_011542367.1:p.Ile3288fs, XP_011542368.1:p.Ile3280fs, XP_011542369.1:p.Ile3352fs, XP_011542371.1:p.Ile3234fs, XP_011542372.1:p.Ile3226fs, XP_011542373.1:p.Ile3176fs, XP_011542374.1:p.Ile2913fs, XP_011542376.1:p.Ile2558fs, XP_016855784.1:p.Ile3327fs, XP_016855785.1:p.Ile3352fs, XP_016855786.1:p.Ile3313fs, XP_016855787.1:p.Ile3352fs, XP_011542378.1:p.Ile2301fs, XP_016855788.1:p.Ile1821fs, XP_011542383.1:p.Ile1538fs, XP_047301580.1:p.Ile3352fs, XP_047301627.1:p.Ile1212fs

                      11.

                      rs1488501599 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        1:225043007 (GRCh38)
                        1:225230709 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:225043006:T:
                        Gene:
                        DNAH14 (Varview)
                        Functional Consequence:
                        frameshift_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        -=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.225043007del, NC_000001.10:g.225230709del, NG_053088.1:g.119586del, NM_001367479.1:c.1661del, XM_006711735.4:c.1661del, XM_006711735.3:c.1661del, XM_006711735.2:c.1661del, XM_006711735.1:c.1661del, XM_011544073.3:c.7del, XM_011544073.2:c.7del, XM_011544073.1:c.7del, XM_011544058.3:c.1661del, XM_011544058.2:c.1661del, XM_011544058.1:c.1661del, XM_011544059.3:c.1661del, XM_011544059.2:c.1661del, XM_011544059.1:c.1661del, XM_011544061.3:c.1661del, XM_011544061.2:c.1661del, XM_011544061.1:c.1661del, XM_011544062.3:c.1661del, XM_011544062.2:c.1661del, XM_011544062.1:c.1661del, XM_011544063.3:c.1661del, XM_011544063.2:c.1661del, XM_011544063.1:c.1661del, XM_011544064.3:c.1661del, XM_011544064.2:c.1661del, XM_011544064.1:c.1661del, XM_011544065.3:c.1661del, XM_011544065.2:c.1661del, XM_011544065.1:c.1661del, XM_011544066.3:c.1661del, XM_011544066.2:c.1661del, XM_011544066.1:c.1661del, XM_011544067.3:c.1661del, XM_011544067.2:c.1661del, XM_011544067.1:c.1661del, XM_011544069.3:c.1661del, XM_011544069.2:c.1661del, XM_011544069.1:c.1661del, XM_011544071.3:c.1133del, XM_011544071.2:c.1133del, XM_011544071.1:c.1133del, XM_017000295.2:c.1661del, XM_017000295.1:c.1661del, XM_017000296.2:c.1661del, XM_017000296.1:c.1661del, XM_017000297.2:c.1661del, XM_017000297.1:c.1661del, XM_017000298.2:c.1661del, XM_017000298.1:c.1661del, XM_047445624.1:c.1661del, NM_001373.1:c.1661del, NP_001354408.1:p.Met554fs, XP_006711798.1:p.Met554fs, XP_011542375.1:p.Cys3fs, XP_011542360.1:p.Met554fs, XP_011542361.1:p.Met554fs, XP_011542363.1:p.Met554fs, XP_011542364.1:p.Met554fs, XP_011542365.1:p.Met554fs, XP_011542366.1:p.Met554fs, XP_011542367.1:p.Met554fs, XP_011542368.1:p.Met554fs, XP_011542369.1:p.Met554fs, XP_011542371.1:p.Met554fs, XP_011542373.1:p.Met378fs, XP_016855784.1:p.Met554fs, XP_016855785.1:p.Met554fs, XP_016855786.1:p.Met554fs, XP_016855787.1:p.Met554fs, XP_047301580.1:p.Met554fs

                        12.

                        rs1488342663 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:225338136 (GRCh38)
                          1:225525838 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:225338135:T:C
                          Gene:
                          DNAH14 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000001.11:g.225338136T>C, NC_000001.10:g.225525838T>C, NG_053088.1:g.414715T>C, NM_001367479.1:c.10387T>C, XM_006711735.4:c.10294T>C, XM_006711735.3:c.10294T>C, XM_006711735.2:c.10294T>C, XM_006711735.1:c.10294T>C, XM_011544073.3:c.8635T>C, XM_011544073.2:c.8635T>C, XM_011544073.1:c.8635T>C, XM_011544058.3:c.10384T>C, XM_011544058.2:c.10384T>C, XM_011544058.1:c.10384T>C, XM_011544059.3:c.10339T>C, XM_011544059.2:c.10339T>C, XM_011544059.1:c.10339T>C, XM_011544061.3:c.10282T>C, XM_011544061.2:c.10282T>C, XM_011544061.1:c.10282T>C, XM_011544062.3:c.10387T>C, XM_011544062.2:c.10387T>C, XM_011544062.1:c.10387T>C, XM_011544063.3:c.10228T>C, XM_011544063.2:c.10228T>C, XM_011544063.1:c.10228T>C, XM_011544064.3:c.10219T>C, XM_011544064.2:c.10219T>C, XM_011544064.1:c.10219T>C, XM_011544065.3:c.10195T>C, XM_011544065.2:c.10195T>C, XM_011544065.1:c.10195T>C, XM_011544066.3:c.10171T>C, XM_011544066.2:c.10171T>C, XM_011544066.1:c.10171T>C, XM_011544067.3:c.10387T>C, XM_011544067.2:c.10387T>C, XM_011544067.1:c.10387T>C, XM_011544069.3:c.10033T>C, XM_011544069.2:c.10033T>C, XM_011544069.1:c.10033T>C, XM_011544070.3:c.10009T>C, XM_011544070.2:c.10009T>C, XM_011544070.1:c.10009T>C, XM_011544071.3:c.9859T>C, XM_011544071.2:c.9859T>C, XM_011544071.1:c.9859T>C, XM_011544072.3:c.9070T>C, XM_011544072.2:c.9070T>C, XM_011544072.1:c.9070T>C, XM_011544074.3:c.8005T>C, XM_011544074.2:c.8005T>C, XM_011544074.1:c.8005T>C, XM_017000295.2:c.10312T>C, XM_017000295.1:c.10312T>C, XM_017000296.2:c.10387T>C, XM_017000296.1:c.10387T>C, XM_017000297.2:c.10270T>C, XM_017000297.1:c.10270T>C, XM_017000298.2:c.10387T>C, XM_017000298.1:c.10387T>C, XM_011544076.2:c.7234T>C, XM_011544076.1:c.7234T>C, XM_017000299.2:c.5794T>C, XM_017000299.1:c.5794T>C, XM_011544081.2:c.4945T>C, XM_011544081.1:c.4945T>C, XM_047445624.1:c.10387T>C, NM_001373.1:c.10108T>C, XM_047445671.1:c.3967T>C, NP_001354408.1:p.Phe3463Leu, XP_006711798.1:p.Phe3432Leu, XP_011542375.1:p.Phe2879Leu, XP_011542360.1:p.Phe3462Leu, XP_011542361.1:p.Phe3447Leu, XP_011542363.1:p.Phe3428Leu, XP_011542364.1:p.Phe3463Leu, XP_011542365.1:p.Phe3410Leu, XP_011542366.1:p.Phe3407Leu, XP_011542367.1:p.Phe3399Leu, XP_011542368.1:p.Phe3391Leu, XP_011542369.1:p.Phe3463Leu, XP_011542371.1:p.Phe3345Leu, XP_011542372.1:p.Phe3337Leu, XP_011542373.1:p.Phe3287Leu, XP_011542374.1:p.Phe3024Leu, XP_011542376.1:p.Phe2669Leu, XP_016855784.1:p.Phe3438Leu, XP_016855785.1:p.Phe3463Leu, XP_016855786.1:p.Phe3424Leu, XP_016855787.1:p.Phe3463Leu, XP_011542378.1:p.Phe2412Leu, XP_016855788.1:p.Phe1932Leu, XP_011542383.1:p.Phe1649Leu, XP_047301580.1:p.Phe3463Leu, XP_047301627.1:p.Phe1323Leu

                          13.

                          rs1488271474 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:225079216 (GRCh38)
                            1:225266918 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:225079215:T:C
                            Gene:
                            DNAH14 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000001.11:g.225079216T>C, NC_000001.10:g.225266918T>C, NG_053088.1:g.155795T>C, NM_001367479.1:c.2434T>C, XM_006711735.4:c.2434T>C, XM_006711735.3:c.2434T>C, XM_006711735.2:c.2434T>C, XM_006711735.1:c.2434T>C, XM_011544073.3:c.682T>C, XM_011544073.2:c.682T>C, XM_011544073.1:c.682T>C, XM_011544058.3:c.2434T>C, XM_011544058.2:c.2434T>C, XM_011544058.1:c.2434T>C, XM_011544059.3:c.2434T>C, XM_011544059.2:c.2434T>C, XM_011544059.1:c.2434T>C, XM_011544061.3:c.2434T>C, XM_011544061.2:c.2434T>C, XM_011544061.1:c.2434T>C, XM_011544062.3:c.2434T>C, XM_011544062.2:c.2434T>C, XM_011544062.1:c.2434T>C, XM_011544063.3:c.2434T>C, XM_011544063.2:c.2434T>C, XM_011544063.1:c.2434T>C, XM_011544064.3:c.2434T>C, XM_011544064.2:c.2434T>C, XM_011544064.1:c.2434T>C, XM_011544065.3:c.2434T>C, XM_011544065.2:c.2434T>C, XM_011544065.1:c.2434T>C, XM_011544066.3:c.2434T>C, XM_011544066.2:c.2434T>C, XM_011544066.1:c.2434T>C, XM_011544067.3:c.2434T>C, XM_011544067.2:c.2434T>C, XM_011544067.1:c.2434T>C, XM_011544069.3:c.2434T>C, XM_011544069.2:c.2434T>C, XM_011544069.1:c.2434T>C, XM_011544070.3:c.2056T>C, XM_011544070.2:c.2056T>C, XM_011544070.1:c.2056T>C, XM_011544071.3:c.1906T>C, XM_011544071.2:c.1906T>C, XM_011544071.1:c.1906T>C, XM_011544072.3:c.1117T>C, XM_011544072.2:c.1117T>C, XM_011544072.1:c.1117T>C, XM_011544074.3:c.52T>C, XM_011544074.2:c.52T>C, XM_011544074.1:c.52T>C, XM_017000295.2:c.2434T>C, XM_017000295.1:c.2434T>C, XM_017000296.2:c.2434T>C, XM_017000296.1:c.2434T>C, XM_017000297.2:c.2434T>C, XM_017000297.1:c.2434T>C, XM_017000298.2:c.2434T>C, XM_017000298.1:c.2434T>C, XM_047445624.1:c.2434T>C, NM_001373.1:c.2434T>C, NP_001354408.1:p.Ser812Pro, XP_006711798.1:p.Ser812Pro, XP_011542375.1:p.Ser228Pro, XP_011542360.1:p.Ser812Pro, XP_011542361.1:p.Ser812Pro, XP_011542363.1:p.Ser812Pro, XP_011542364.1:p.Ser812Pro, XP_011542365.1:p.Ser812Pro, XP_011542366.1:p.Ser812Pro, XP_011542367.1:p.Ser812Pro, XP_011542368.1:p.Ser812Pro, XP_011542369.1:p.Ser812Pro, XP_011542371.1:p.Ser812Pro, XP_011542372.1:p.Ser686Pro, XP_011542373.1:p.Ser636Pro, XP_011542374.1:p.Ser373Pro, XP_011542376.1:p.Ser18Pro, XP_016855784.1:p.Ser812Pro, XP_016855785.1:p.Ser812Pro, XP_016855786.1:p.Ser812Pro, XP_016855787.1:p.Ser812Pro, XP_047301580.1:p.Ser812Pro

                            14.

                            rs1487878876 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:225051493 (GRCh38)
                              1:225239195 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:225051492:G:T
                              Gene:
                              DNAH14 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.225051493G>T, NC_000001.10:g.225239195G>T, NG_053088.1:g.128072G>T, NM_001367479.1:c.2122G>T, XM_006711735.4:c.2122G>T, XM_006711735.3:c.2122G>T, XM_006711735.2:c.2122G>T, XM_006711735.1:c.2122G>T, XM_011544073.3:c.370G>T, XM_011544073.2:c.370G>T, XM_011544073.1:c.370G>T, XM_011544058.3:c.2122G>T, XM_011544058.2:c.2122G>T, XM_011544058.1:c.2122G>T, XM_011544059.3:c.2122G>T, XM_011544059.2:c.2122G>T, XM_011544059.1:c.2122G>T, XM_011544061.3:c.2122G>T, XM_011544061.2:c.2122G>T, XM_011544061.1:c.2122G>T, XM_011544062.3:c.2122G>T, XM_011544062.2:c.2122G>T, XM_011544062.1:c.2122G>T, XM_011544063.3:c.2122G>T, XM_011544063.2:c.2122G>T, XM_011544063.1:c.2122G>T, XM_011544064.3:c.2122G>T, XM_011544064.2:c.2122G>T, XM_011544064.1:c.2122G>T, XM_011544065.3:c.2122G>T, XM_011544065.2:c.2122G>T, XM_011544065.1:c.2122G>T, XM_011544066.3:c.2122G>T, XM_011544066.2:c.2122G>T, XM_011544066.1:c.2122G>T, XM_011544067.3:c.2122G>T, XM_011544067.2:c.2122G>T, XM_011544067.1:c.2122G>T, XM_011544069.3:c.2122G>T, XM_011544069.2:c.2122G>T, XM_011544069.1:c.2122G>T, XM_011544070.3:c.1744G>T, XM_011544070.2:c.1744G>T, XM_011544070.1:c.1744G>T, XM_011544071.3:c.1594G>T, XM_011544071.2:c.1594G>T, XM_011544071.1:c.1594G>T, XM_017000295.2:c.2122G>T, XM_017000295.1:c.2122G>T, XM_017000296.2:c.2122G>T, XM_017000296.1:c.2122G>T, XM_017000297.2:c.2122G>T, XM_017000297.1:c.2122G>T, XM_017000298.2:c.2122G>T, XM_017000298.1:c.2122G>T, XM_047445624.1:c.2122G>T, NM_001373.1:c.2122G>T, NP_001354408.1:p.Val708Phe, XP_006711798.1:p.Val708Phe, XP_011542375.1:p.Val124Phe, XP_011542360.1:p.Val708Phe, XP_011542361.1:p.Val708Phe, XP_011542363.1:p.Val708Phe, XP_011542364.1:p.Val708Phe, XP_011542365.1:p.Val708Phe, XP_011542366.1:p.Val708Phe, XP_011542367.1:p.Val708Phe, XP_011542368.1:p.Val708Phe, XP_011542369.1:p.Val708Phe, XP_011542371.1:p.Val708Phe, XP_011542372.1:p.Val582Phe, XP_011542373.1:p.Val532Phe, XP_016855784.1:p.Val708Phe, XP_016855785.1:p.Val708Phe, XP_016855786.1:p.Val708Phe, XP_016855787.1:p.Val708Phe, XP_047301580.1:p.Val708Phe

                              15.

                              rs1487657799 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:225082679 (GRCh38)
                                1:225270381 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:225082678:T:C
                                Gene:
                                DNAH14 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000006/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.225082679T>C, NC_000001.10:g.225270381T>C, NG_053088.1:g.159258T>C, NM_001367479.1:c.3267T>C, XM_006711735.4:c.3267T>C, XM_006711735.3:c.3267T>C, XM_006711735.2:c.3267T>C, XM_006711735.1:c.3267T>C, XM_011544073.3:c.1515T>C, XM_011544073.2:c.1515T>C, XM_011544073.1:c.1515T>C, XM_011544058.3:c.3267T>C, XM_011544058.2:c.3267T>C, XM_011544058.1:c.3267T>C, XM_011544059.3:c.3267T>C, XM_011544059.2:c.3267T>C, XM_011544059.1:c.3267T>C, XM_011544061.3:c.3267T>C, XM_011544061.2:c.3267T>C, XM_011544061.1:c.3267T>C, XM_011544062.3:c.3267T>C, XM_011544062.2:c.3267T>C, XM_011544062.1:c.3267T>C, XM_011544063.3:c.3267T>C, XM_011544063.2:c.3267T>C, XM_011544063.1:c.3267T>C, XM_011544064.3:c.3267T>C, XM_011544064.2:c.3267T>C, XM_011544064.1:c.3267T>C, XM_011544065.3:c.3267T>C, XM_011544065.2:c.3267T>C, XM_011544065.1:c.3267T>C, XM_011544066.3:c.3267T>C, XM_011544066.2:c.3267T>C, XM_011544066.1:c.3267T>C, XM_011544067.3:c.3267T>C, XM_011544067.2:c.3267T>C, XM_011544067.1:c.3267T>C, XM_011544069.3:c.3267T>C, XM_011544069.2:c.3267T>C, XM_011544069.1:c.3267T>C, XM_011544070.3:c.2889T>C, XM_011544070.2:c.2889T>C, XM_011544070.1:c.2889T>C, XM_011544071.3:c.2739T>C, XM_011544071.2:c.2739T>C, XM_011544071.1:c.2739T>C, XM_011544072.3:c.1950T>C, XM_011544072.2:c.1950T>C, XM_011544072.1:c.1950T>C, XM_011544074.3:c.885T>C, XM_011544074.2:c.885T>C, XM_011544074.1:c.885T>C, XM_017000295.2:c.3267T>C, XM_017000295.1:c.3267T>C, XM_017000296.2:c.3267T>C, XM_017000296.1:c.3267T>C, XM_017000297.2:c.3267T>C, XM_017000297.1:c.3267T>C, XM_017000298.2:c.3267T>C, XM_017000298.1:c.3267T>C, XM_011544076.2:c.114T>C, XM_011544076.1:c.114T>C, XM_047445624.1:c.3267T>C, NM_001373.1:c.3267T>C

                                16.

                                rs1487558922 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:225338131 (GRCh38)
                                  1:225525833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:225338130:A:G
                                  Gene:
                                  DNAH14 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  HGVS:
                                  NC_000001.11:g.225338131A>G, NC_000001.10:g.225525833A>G, NG_053088.1:g.414710A>G, NM_001367479.1:c.10382A>G, XM_006711735.4:c.10289A>G, XM_006711735.3:c.10289A>G, XM_006711735.2:c.10289A>G, XM_006711735.1:c.10289A>G, XM_011544073.3:c.8630A>G, XM_011544073.2:c.8630A>G, XM_011544073.1:c.8630A>G, XM_011544058.3:c.10379A>G, XM_011544058.2:c.10379A>G, XM_011544058.1:c.10379A>G, XM_011544059.3:c.10334A>G, XM_011544059.2:c.10334A>G, XM_011544059.1:c.10334A>G, XM_011544061.3:c.10277A>G, XM_011544061.2:c.10277A>G, XM_011544061.1:c.10277A>G, XM_011544062.3:c.10382A>G, XM_011544062.2:c.10382A>G, XM_011544062.1:c.10382A>G, XM_011544063.3:c.10223A>G, XM_011544063.2:c.10223A>G, XM_011544063.1:c.10223A>G, XM_011544064.3:c.10214A>G, XM_011544064.2:c.10214A>G, XM_011544064.1:c.10214A>G, XM_011544065.3:c.10190A>G, XM_011544065.2:c.10190A>G, XM_011544065.1:c.10190A>G, XM_011544066.3:c.10166A>G, XM_011544066.2:c.10166A>G, XM_011544066.1:c.10166A>G, XM_011544067.3:c.10382A>G, XM_011544067.2:c.10382A>G, XM_011544067.1:c.10382A>G, XM_011544069.3:c.10028A>G, XM_011544069.2:c.10028A>G, XM_011544069.1:c.10028A>G, XM_011544070.3:c.10004A>G, XM_011544070.2:c.10004A>G, XM_011544070.1:c.10004A>G, XM_011544071.3:c.9854A>G, XM_011544071.2:c.9854A>G, XM_011544071.1:c.9854A>G, XM_011544072.3:c.9065A>G, XM_011544072.2:c.9065A>G, XM_011544072.1:c.9065A>G, XM_011544074.3:c.8000A>G, XM_011544074.2:c.8000A>G, XM_011544074.1:c.8000A>G, XM_017000295.2:c.10307A>G, XM_017000295.1:c.10307A>G, XM_017000296.2:c.10382A>G, XM_017000296.1:c.10382A>G, XM_017000297.2:c.10265A>G, XM_017000297.1:c.10265A>G, XM_017000298.2:c.10382A>G, XM_017000298.1:c.10382A>G, XM_011544076.2:c.7229A>G, XM_011544076.1:c.7229A>G, XM_017000299.2:c.5789A>G, XM_017000299.1:c.5789A>G, XM_011544081.2:c.4940A>G, XM_011544081.1:c.4940A>G, XM_047445624.1:c.10382A>G, NM_001373.1:c.10103A>G, XM_047445671.1:c.3962A>G, NP_001354408.1:p.His3461Arg, XP_006711798.1:p.His3430Arg, XP_011542375.1:p.His2877Arg, XP_011542360.1:p.His3460Arg, XP_011542361.1:p.His3445Arg, XP_011542363.1:p.His3426Arg, XP_011542364.1:p.His3461Arg, XP_011542365.1:p.His3408Arg, XP_011542366.1:p.His3405Arg, XP_011542367.1:p.His3397Arg, XP_011542368.1:p.His3389Arg, XP_011542369.1:p.His3461Arg, XP_011542371.1:p.His3343Arg, XP_011542372.1:p.His3335Arg, XP_011542373.1:p.His3285Arg, XP_011542374.1:p.His3022Arg, XP_011542376.1:p.His2667Arg, XP_016855784.1:p.His3436Arg, XP_016855785.1:p.His3461Arg, XP_016855786.1:p.His3422Arg, XP_016855787.1:p.His3461Arg, XP_011542378.1:p.His2410Arg, XP_016855788.1:p.His1930Arg, XP_011542383.1:p.His1647Arg, XP_047301580.1:p.His3461Arg, XP_047301627.1:p.His1321Arg

                                  17.

                                  rs1487497404 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    1:225331517 (GRCh38)
                                    1:225519219 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:225331516:A:C,NC_000001.11:225331516:A:G
                                    Gene:
                                    DNAH14 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.225331517A>C, NC_000001.11:g.225331517A>G, NC_000001.10:g.225519219A>C, NC_000001.10:g.225519219A>G, NG_053088.1:g.408096A>C, NG_053088.1:g.408096A>G, NM_001367479.1:c.9804A>C, NM_001367479.1:c.9804A>G, XM_006711735.4:c.9711A>C, XM_006711735.4:c.9711A>G, XM_006711735.3:c.9711A>C, XM_006711735.3:c.9711A>G, XM_006711735.2:c.9711A>C, XM_006711735.2:c.9711A>G, XM_006711735.1:c.9711A>C, XM_006711735.1:c.9711A>G, XM_011544073.3:c.8052A>C, XM_011544073.3:c.8052A>G, XM_011544073.2:c.8052A>C, XM_011544073.2:c.8052A>G, XM_011544073.1:c.8052A>C, XM_011544073.1:c.8052A>G, XM_011544058.3:c.9801A>C, XM_011544058.3:c.9801A>G, XM_011544058.2:c.9801A>C, XM_011544058.2:c.9801A>G, XM_011544058.1:c.9801A>C, XM_011544058.1:c.9801A>G, XM_011544059.3:c.9756A>C, XM_011544059.3:c.9756A>G, XM_011544059.2:c.9756A>C, XM_011544059.2:c.9756A>G, XM_011544059.1:c.9756A>C, XM_011544059.1:c.9756A>G, XM_011544061.3:c.9699A>C, XM_011544061.3:c.9699A>G, XM_011544061.2:c.9699A>C, XM_011544061.2:c.9699A>G, XM_011544061.1:c.9699A>C, XM_011544061.1:c.9699A>G, XM_011544062.3:c.9804A>C, XM_011544062.3:c.9804A>G, XM_011544062.2:c.9804A>C, XM_011544062.2:c.9804A>G, XM_011544062.1:c.9804A>C, XM_011544062.1:c.9804A>G, XM_011544063.3:c.9645A>C, XM_011544063.3:c.9645A>G, XM_011544063.2:c.9645A>C, XM_011544063.2:c.9645A>G, XM_011544063.1:c.9645A>C, XM_011544063.1:c.9645A>G, XM_011544064.3:c.9636A>C, XM_011544064.3:c.9636A>G, XM_011544064.2:c.9636A>C, XM_011544064.2:c.9636A>G, XM_011544064.1:c.9636A>C, XM_011544064.1:c.9636A>G, XM_011544065.3:c.9612A>C, XM_011544065.3:c.9612A>G, XM_011544065.2:c.9612A>C, XM_011544065.2:c.9612A>G, XM_011544065.1:c.9612A>C, XM_011544065.1:c.9612A>G, XM_011544066.3:c.9588A>C, XM_011544066.3:c.9588A>G, XM_011544066.2:c.9588A>C, XM_011544066.2:c.9588A>G, XM_011544066.1:c.9588A>C, XM_011544066.1:c.9588A>G, XM_011544067.3:c.9804A>C, XM_011544067.3:c.9804A>G, XM_011544067.2:c.9804A>C, XM_011544067.2:c.9804A>G, XM_011544067.1:c.9804A>C, XM_011544067.1:c.9804A>G, XM_011544069.3:c.9450A>C, XM_011544069.3:c.9450A>G, XM_011544069.2:c.9450A>C, XM_011544069.2:c.9450A>G, XM_011544069.1:c.9450A>C, XM_011544069.1:c.9450A>G, XM_011544070.3:c.9426A>C, XM_011544070.3:c.9426A>G, XM_011544070.2:c.9426A>C, XM_011544070.2:c.9426A>G, XM_011544070.1:c.9426A>C, XM_011544070.1:c.9426A>G, XM_011544071.3:c.9276A>C, XM_011544071.3:c.9276A>G, XM_011544071.2:c.9276A>C, XM_011544071.2:c.9276A>G, XM_011544071.1:c.9276A>C, XM_011544071.1:c.9276A>G, XM_011544072.3:c.8487A>C, XM_011544072.3:c.8487A>G, XM_011544072.2:c.8487A>C, XM_011544072.2:c.8487A>G, XM_011544072.1:c.8487A>C, XM_011544072.1:c.8487A>G, XM_011544074.3:c.7422A>C, XM_011544074.3:c.7422A>G, XM_011544074.2:c.7422A>C, XM_011544074.2:c.7422A>G, XM_011544074.1:c.7422A>C, XM_011544074.1:c.7422A>G, XM_017000295.2:c.9729A>C, XM_017000295.2:c.9729A>G, XM_017000295.1:c.9729A>C, XM_017000295.1:c.9729A>G, XM_017000296.2:c.9804A>C, XM_017000296.2:c.9804A>G, XM_017000296.1:c.9804A>C, XM_017000296.1:c.9804A>G, XM_017000297.2:c.9687A>C, XM_017000297.2:c.9687A>G, XM_017000297.1:c.9687A>C, XM_017000297.1:c.9687A>G, XM_017000298.2:c.9804A>C, XM_017000298.2:c.9804A>G, XM_017000298.1:c.9804A>C, XM_017000298.1:c.9804A>G, XM_011544076.2:c.6651A>C, XM_011544076.2:c.6651A>G, XM_011544076.1:c.6651A>C, XM_011544076.1:c.6651A>G, XM_017000299.2:c.5211A>C, XM_017000299.2:c.5211A>G, XM_017000299.1:c.5211A>C, XM_017000299.1:c.5211A>G, XM_011544081.2:c.4362A>C, XM_011544081.2:c.4362A>G, XM_011544081.1:c.4362A>C, XM_011544081.1:c.4362A>G, XM_047445624.1:c.9804A>C, XM_047445624.1:c.9804A>G, NM_001373.1:c.9525A>C, NM_001373.1:c.9525A>G, XM_047445671.1:c.3384A>C, XM_047445671.1:c.3384A>G

                                    18.

                                    rs1487477320 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:225337363 (GRCh38)
                                      1:225525065 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:225337362:A:G
                                      Gene:
                                      DNAH14 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000111/1 (ALFA)
                                      G=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.225337363A>G, NC_000001.10:g.225525065A>G, NG_053088.1:g.413942A>G, NM_001367479.1:c.10178A>G, XM_006711735.4:c.10085A>G, XM_006711735.3:c.10085A>G, XM_006711735.2:c.10085A>G, XM_006711735.1:c.10085A>G, XM_011544073.3:c.8426A>G, XM_011544073.2:c.8426A>G, XM_011544073.1:c.8426A>G, XM_011544058.3:c.10175A>G, XM_011544058.2:c.10175A>G, XM_011544058.1:c.10175A>G, XM_011544059.3:c.10130A>G, XM_011544059.2:c.10130A>G, XM_011544059.1:c.10130A>G, XM_011544061.3:c.10073A>G, XM_011544061.2:c.10073A>G, XM_011544061.1:c.10073A>G, XM_011544062.3:c.10178A>G, XM_011544062.2:c.10178A>G, XM_011544062.1:c.10178A>G, XM_011544063.3:c.10019A>G, XM_011544063.2:c.10019A>G, XM_011544063.1:c.10019A>G, XM_011544064.3:c.10010A>G, XM_011544064.2:c.10010A>G, XM_011544064.1:c.10010A>G, XM_011544065.3:c.9986A>G, XM_011544065.2:c.9986A>G, XM_011544065.1:c.9986A>G, XM_011544066.3:c.9962A>G, XM_011544066.2:c.9962A>G, XM_011544066.1:c.9962A>G, XM_011544067.3:c.10178A>G, XM_011544067.2:c.10178A>G, XM_011544067.1:c.10178A>G, XM_011544069.3:c.9824A>G, XM_011544069.2:c.9824A>G, XM_011544069.1:c.9824A>G, XM_011544070.3:c.9800A>G, XM_011544070.2:c.9800A>G, XM_011544070.1:c.9800A>G, XM_011544071.3:c.9650A>G, XM_011544071.2:c.9650A>G, XM_011544071.1:c.9650A>G, XM_011544072.3:c.8861A>G, XM_011544072.2:c.8861A>G, XM_011544072.1:c.8861A>G, XM_011544074.3:c.7796A>G, XM_011544074.2:c.7796A>G, XM_011544074.1:c.7796A>G, XM_017000295.2:c.10103A>G, XM_017000295.1:c.10103A>G, XM_017000296.2:c.10178A>G, XM_017000296.1:c.10178A>G, XM_017000297.2:c.10061A>G, XM_017000297.1:c.10061A>G, XM_017000298.2:c.10178A>G, XM_017000298.1:c.10178A>G, XM_011544076.2:c.7025A>G, XM_011544076.1:c.7025A>G, XM_017000299.2:c.5585A>G, XM_017000299.1:c.5585A>G, XM_011544081.2:c.4736A>G, XM_011544081.1:c.4736A>G, XM_047445624.1:c.10178A>G, NM_001373.1:c.9899A>G, XM_047445671.1:c.3758A>G, NP_001354408.1:p.Asp3393Gly, XP_006711798.1:p.Asp3362Gly, XP_011542375.1:p.Asp2809Gly, XP_011542360.1:p.Asp3392Gly, XP_011542361.1:p.Asp3377Gly, XP_011542363.1:p.Asp3358Gly, XP_011542364.1:p.Asp3393Gly, XP_011542365.1:p.Asp3340Gly, XP_011542366.1:p.Asp3337Gly, XP_011542367.1:p.Asp3329Gly, XP_011542368.1:p.Asp3321Gly, XP_011542369.1:p.Asp3393Gly, XP_011542371.1:p.Asp3275Gly, XP_011542372.1:p.Asp3267Gly, XP_011542373.1:p.Asp3217Gly, XP_011542374.1:p.Asp2954Gly, XP_011542376.1:p.Asp2599Gly, XP_016855784.1:p.Asp3368Gly, XP_016855785.1:p.Asp3393Gly, XP_016855786.1:p.Asp3354Gly, XP_016855787.1:p.Asp3393Gly, XP_011542378.1:p.Asp2342Gly, XP_016855788.1:p.Asp1862Gly, XP_011542383.1:p.Asp1579Gly, XP_047301580.1:p.Asp3393Gly, XP_047301627.1:p.Asp1253Gly

                                      19.

                                      rs1487381962 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        1:225346179 (GRCh38)
                                        1:225533881 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:225346178:C:A
                                        Gene:
                                        DNAH14 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.225346179C>A, NC_000001.10:g.225533881C>A, NG_053088.1:g.422758C>A, NM_001367479.1:c.10896C>A, XM_006711735.4:c.10803C>A, XM_006711735.3:c.10803C>A, XM_006711735.2:c.10803C>A, XM_006711735.1:c.10803C>A, XM_011544073.3:c.9144C>A, XM_011544073.2:c.9144C>A, XM_011544073.1:c.9144C>A, XM_011544058.3:c.10893C>A, XM_011544058.2:c.10893C>A, XM_011544058.1:c.10893C>A, XM_011544059.3:c.10848C>A, XM_011544059.2:c.10848C>A, XM_011544059.1:c.10848C>A, XM_011544061.3:c.10791C>A, XM_011544061.2:c.10791C>A, XM_011544061.1:c.10791C>A, XM_011544062.3:c.10896C>A, XM_011544062.2:c.10896C>A, XM_011544062.1:c.10896C>A, XM_011544063.3:c.10737C>A, XM_011544063.2:c.10737C>A, XM_011544063.1:c.10737C>A, XM_011544064.3:c.10728C>A, XM_011544064.2:c.10728C>A, XM_011544064.1:c.10728C>A, XM_011544065.3:c.10704C>A, XM_011544065.2:c.10704C>A, XM_011544065.1:c.10704C>A, XM_011544066.3:c.10680C>A, XM_011544066.2:c.10680C>A, XM_011544066.1:c.10680C>A, XM_011544067.3:c.10896C>A, XM_011544067.2:c.10896C>A, XM_011544067.1:c.10896C>A, XM_011544069.3:c.10542C>A, XM_011544069.2:c.10542C>A, XM_011544069.1:c.10542C>A, XM_011544070.3:c.10518C>A, XM_011544070.2:c.10518C>A, XM_011544070.1:c.10518C>A, XM_011544071.3:c.10368C>A, XM_011544071.2:c.10368C>A, XM_011544071.1:c.10368C>A, XM_011544072.3:c.9579C>A, XM_011544072.2:c.9579C>A, XM_011544072.1:c.9579C>A, XM_011544074.3:c.8514C>A, XM_011544074.2:c.8514C>A, XM_011544074.1:c.8514C>A, XM_017000295.2:c.10821C>A, XM_017000295.1:c.10821C>A, XM_017000296.2:c.10896C>A, XM_017000296.1:c.10896C>A, XM_017000297.2:c.10779C>A, XM_017000297.1:c.10779C>A, XM_017000298.2:c.10896C>A, XM_017000298.1:c.10896C>A, XM_011544076.2:c.7743C>A, XM_011544076.1:c.7743C>A, XM_017000299.2:c.6303C>A, XM_017000299.1:c.6303C>A, XM_011544081.2:c.5454C>A, XM_011544081.1:c.5454C>A, XM_047445624.1:c.10896C>A, NM_001373.1:c.10617C>A, XM_047445671.1:c.4476C>A, NP_001354408.1:p.Asp3632Glu, XP_006711798.1:p.Asp3601Glu, XP_011542375.1:p.Asp3048Glu, XP_011542360.1:p.Asp3631Glu, XP_011542361.1:p.Asp3616Glu, XP_011542363.1:p.Asp3597Glu, XP_011542364.1:p.Asp3632Glu, XP_011542365.1:p.Asp3579Glu, XP_011542366.1:p.Asp3576Glu, XP_011542367.1:p.Asp3568Glu, XP_011542368.1:p.Asp3560Glu, XP_011542369.1:p.Asp3632Glu, XP_011542371.1:p.Asp3514Glu, XP_011542372.1:p.Asp3506Glu, XP_011542373.1:p.Asp3456Glu, XP_011542374.1:p.Asp3193Glu, XP_011542376.1:p.Asp2838Glu, XP_016855784.1:p.Asp3607Glu, XP_016855785.1:p.Asp3632Glu, XP_016855786.1:p.Asp3593Glu, XP_016855787.1:p.Asp3632Glu, XP_011542378.1:p.Asp2581Glu, XP_016855788.1:p.Asp2101Glu, XP_011542383.1:p.Asp1818Glu, XP_047301580.1:p.Asp3632Glu, XP_047301627.1:p.Asp1492Glu

                                        20.

                                        rs1487033477 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:225043103 (GRCh38)
                                          1:225230805 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:225043102:A:G
                                          Gene:
                                          DNAH14 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.225043103A>G, NC_000001.10:g.225230805A>G, NG_053088.1:g.119682A>G, NM_001367479.1:c.1757A>G, XM_006711735.4:c.1757A>G, XM_006711735.3:c.1757A>G, XM_006711735.2:c.1757A>G, XM_006711735.1:c.1757A>G, XM_011544073.3:c.103A>G, XM_011544073.2:c.103A>G, XM_011544073.1:c.103A>G, XM_011544058.3:c.1757A>G, XM_011544058.2:c.1757A>G, XM_011544058.1:c.1757A>G, XM_011544059.3:c.1757A>G, XM_011544059.2:c.1757A>G, XM_011544059.1:c.1757A>G, XM_011544061.3:c.1757A>G, XM_011544061.2:c.1757A>G, XM_011544061.1:c.1757A>G, XM_011544062.3:c.1757A>G, XM_011544062.2:c.1757A>G, XM_011544062.1:c.1757A>G, XM_011544063.3:c.1757A>G, XM_011544063.2:c.1757A>G, XM_011544063.1:c.1757A>G, XM_011544064.3:c.1757A>G, XM_011544064.2:c.1757A>G, XM_011544064.1:c.1757A>G, XM_011544065.3:c.1757A>G, XM_011544065.2:c.1757A>G, XM_011544065.1:c.1757A>G, XM_011544066.3:c.1757A>G, XM_011544066.2:c.1757A>G, XM_011544066.1:c.1757A>G, XM_011544067.3:c.1757A>G, XM_011544067.2:c.1757A>G, XM_011544067.1:c.1757A>G, XM_011544069.3:c.1757A>G, XM_011544069.2:c.1757A>G, XM_011544069.1:c.1757A>G, XM_011544071.3:c.1229A>G, XM_011544071.2:c.1229A>G, XM_011544071.1:c.1229A>G, XM_017000295.2:c.1757A>G, XM_017000295.1:c.1757A>G, XM_017000296.2:c.1757A>G, XM_017000296.1:c.1757A>G, XM_017000297.2:c.1757A>G, XM_017000297.1:c.1757A>G, XM_017000298.2:c.1757A>G, XM_017000298.1:c.1757A>G, XM_047445624.1:c.1757A>G, NM_001373.1:c.1757A>G, NP_001354408.1:p.Asp586Gly, XP_006711798.1:p.Asp586Gly, XP_011542375.1:p.Ile35Val, XP_011542360.1:p.Asp586Gly, XP_011542361.1:p.Asp586Gly, XP_011542363.1:p.Asp586Gly, XP_011542364.1:p.Asp586Gly, XP_011542365.1:p.Asp586Gly, XP_011542366.1:p.Asp586Gly, XP_011542367.1:p.Asp586Gly, XP_011542368.1:p.Asp586Gly, XP_011542369.1:p.Asp586Gly, XP_011542371.1:p.Asp586Gly, XP_011542373.1:p.Asp410Gly, XP_016855784.1:p.Asp586Gly, XP_016855785.1:p.Asp586Gly, XP_016855786.1:p.Asp586Gly, XP_016855787.1:p.Asp586Gly, XP_047301580.1:p.Asp586Gly

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