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Items: 1 to 20 of 585

1.

rs1488104707 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    14:103475168 (GRCh38)
    14:103941505 (GRCh37)
    Canonical SPDI:
    NC_000014.9:103475167:G:T
    Gene:
    MARK3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000014.9:g.103475168G>T, NC_000014.8:g.103941505G>T, NG_030339.2:g.94805G>T, NM_002376.7:c.1440G>T, NM_002376.6:c.1440G>T, NM_002376.5:c.1440G>T, NM_001128918.3:c.1440G>T, NM_001128918.2:c.1440G>T, NM_001128918.1:c.1440G>T, NM_001128919.3:c.1440G>T, NM_001128919.2:c.1440G>T, NM_001128919.1:c.1440G>T, NM_001128920.3:c.1392G>T, NM_001128920.2:c.1392G>T, NM_001128920.1:c.1392G>T, NM_001128921.3:c.1203G>T, NM_001128921.2:c.1203G>T, NM_001128921.1:c.1203G>T, NM_001411055.1:c.1386G>T, NM_001411056.1:c.1248G>T, XM_005267641.6:c.1440G>T, XM_005267641.5:c.1440G>T, XM_005267641.4:c.1440G>T, XM_005267641.3:c.1440G>T, XM_005267641.2:c.1440G>T, XM_005267641.1:c.1440G>T, XM_005267642.6:c.1392G>T, XM_005267642.5:c.1392G>T, XM_005267642.4:c.1392G>T, XM_005267642.3:c.1392G>T, XM_005267642.2:c.1392G>T, XM_005267642.1:c.1392G>T, XM_005267643.6:c.1440G>T, XM_005267643.5:c.1440G>T, XM_005267643.4:c.1440G>T, XM_005267643.3:c.1440G>T, XM_005267643.2:c.1440G>T, XM_005267643.1:c.1440G>T, XM_011536769.4:c.1200G>T, XM_011536769.3:c.1200G>T, XM_011536769.2:c.1200G>T, XM_011536769.1:c.1200G>T, XM_017021291.3:c.1392G>T, XM_017021291.2:c.1392G>T, XM_017021291.1:c.1392G>T, XM_017021292.3:c.1392G>T, XM_017021292.2:c.1392G>T, XM_017021292.1:c.1392G>T, XM_017021294.3:c.1248G>T, XM_017021294.2:c.1248G>T, XM_017021294.1:c.1248G>T, XM_017021295.3:c.1248G>T, XM_017021295.2:c.1248G>T, XM_017021295.1:c.1248G>T, XM_017021296.3:c.1248G>T, XM_017021297.3:c.1200G>T, XM_017021297.2:c.1200G>T, XM_017021297.1:c.1200G>T, XM_017021301.3:c.1047G>T, XM_017021301.2:c.1047G>T, XM_017021301.1:c.1047G>T, XM_017021298.3:c.1248G>T, XM_017021298.2:c.1248G>T, XM_017021298.1:c.1248G>T, XM_017021299.3:c.1200G>T, XM_017021299.2:c.1200G>T, XM_017021299.1:c.1200G>T, XM_047431378.1:c.1386G>T, XM_047431380.1:c.1386G>T, XM_047431382.1:c.1386G>T, XM_047431384.1:c.1386G>T, XM_047431388.1:c.1338G>T, XM_047431390.1:c.1200G>T, XM_047431391.1:c.1392G>T, XM_047431392.1:c.1386G>T, XM_047431381.1:c.1350G>T, XM_047431385.1:c.1350G>T, XM_047431386.1:c.1296G>T, XM_047431377.1:c.1398G>T, XM_047431379.1:c.1398G>T, XM_047431383.1:c.1398G>T, XM_047431387.1:c.1350G>T, XM_047431389.1:c.1200G>T, XM_047431393.1:c.969G>T, XM_047431394.1:c.969G>T, XM_047431395.1:c.969G>T, XM_047431396.1:c.921G>T, NP_002367.5:p.Lys480Asn, NP_001122390.2:p.Lys480Asn, NP_001122391.2:p.Lys480Asn, NP_001122392.2:p.Lys464Asn, NP_001122393.2:p.Lys401Asn, XP_005267698.2:p.Lys480Asn, XP_005267699.2:p.Lys464Asn, XP_005267700.2:p.Lys480Asn, XP_011535071.1:p.Lys400Asn, XP_016876780.1:p.Lys464Asn, XP_016876781.1:p.Lys464Asn, XP_016876783.1:p.Lys416Asn, XP_016876784.1:p.Lys416Asn, XP_016876785.1:p.Lys416Asn, XP_016876786.1:p.Lys400Asn, XP_016876790.1:p.Lys349Asn, XP_016876787.1:p.Lys416Asn, XP_016876788.1:p.Lys400Asn, XP_047287334.1:p.Lys462Asn, XP_047287336.1:p.Lys462Asn, XP_047287338.1:p.Lys462Asn, XP_047287340.1:p.Lys462Asn, XP_047287344.1:p.Lys446Asn, XP_047287346.1:p.Lys400Asn, XP_047287347.1:p.Lys464Asn, XP_047287348.1:p.Lys462Asn, XP_047287337.1:p.Lys450Asn, XP_047287341.1:p.Lys450Asn, XP_047287342.1:p.Lys432Asn, XP_047287333.1:p.Lys466Asn, XP_047287335.1:p.Lys466Asn, XP_047287339.1:p.Lys466Asn, XP_047287343.1:p.Lys450Asn, XP_047287345.1:p.Lys400Asn, XP_047287349.1:p.Lys323Asn, XP_047287350.1:p.Lys323Asn, XP_047287351.1:p.Lys323Asn, XP_047287352.1:p.Lys307Asn

    2.

    rs1487080642 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      14:103465696 (GRCh38)
      14:103932033 (GRCh37)
      Canonical SPDI:
      NC_000014.9:103465695:A:G
      Gene:
      MARK3 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000111/1 (ALFA)
      G=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.103465696A>G, NC_000014.8:g.103932033A>G, NG_030339.2:g.85333A>G, NM_002376.7:c.680A>G, NM_002376.6:c.680A>G, NM_002376.5:c.680A>G, NM_001128918.3:c.680A>G, NM_001128918.2:c.680A>G, NM_001128918.1:c.680A>G, NM_001128919.3:c.680A>G, NM_001128919.2:c.680A>G, NM_001128919.1:c.680A>G, NM_001128920.3:c.680A>G, NM_001128920.2:c.680A>G, NM_001128920.1:c.680A>G, NM_001411055.1:c.626A>G, NM_001411056.1:c.488A>G, XM_005267641.6:c.680A>G, XM_005267641.5:c.680A>G, XM_005267641.4:c.680A>G, XM_005267641.3:c.680A>G, XM_005267641.2:c.680A>G, XM_005267641.1:c.680A>G, XM_005267642.6:c.680A>G, XM_005267642.5:c.680A>G, XM_005267642.4:c.680A>G, XM_005267642.3:c.680A>G, XM_005267642.2:c.680A>G, XM_005267642.1:c.680A>G, XM_005267643.6:c.680A>G, XM_005267643.5:c.680A>G, XM_005267643.4:c.680A>G, XM_005267643.3:c.680A>G, XM_005267643.2:c.680A>G, XM_005267643.1:c.680A>G, XM_011536769.4:c.440A>G, XM_011536769.3:c.440A>G, XM_011536769.2:c.440A>G, XM_011536769.1:c.440A>G, XM_017021291.3:c.680A>G, XM_017021291.2:c.680A>G, XM_017021291.1:c.680A>G, XM_017021292.3:c.680A>G, XM_017021292.2:c.680A>G, XM_017021292.1:c.680A>G, XM_017021294.3:c.488A>G, XM_017021294.2:c.488A>G, XM_017021294.1:c.488A>G, XM_017021295.3:c.488A>G, XM_017021295.2:c.488A>G, XM_017021295.1:c.488A>G, XM_017021296.3:c.488A>G, XM_017021297.3:c.488A>G, XM_017021297.2:c.488A>G, XM_017021297.1:c.488A>G, XM_017021301.3:c.287A>G, XM_017021301.2:c.287A>G, XM_017021301.1:c.287A>G, XM_017021298.3:c.488A>G, XM_017021298.2:c.488A>G, XM_017021298.1:c.488A>G, XM_017021299.3:c.488A>G, XM_017021299.2:c.488A>G, XM_017021299.1:c.488A>G, XM_047431378.1:c.626A>G, XM_047431380.1:c.626A>G, XM_047431382.1:c.626A>G, XM_047431384.1:c.626A>G, XM_047431388.1:c.626A>G, XM_047431390.1:c.488A>G, XM_047431391.1:c.680A>G, XM_047431392.1:c.626A>G, XM_047431381.1:c.638A>G, XM_047431385.1:c.638A>G, XM_047431386.1:c.584A>G, XM_047431377.1:c.638A>G, XM_047431379.1:c.638A>G, XM_047431383.1:c.638A>G, XM_047431387.1:c.638A>G, XM_047431389.1:c.440A>G, XM_047431393.1:c.209A>G, XM_047431394.1:c.209A>G, XM_047431395.1:c.209A>G, XM_047431396.1:c.209A>G, NP_002367.5:p.Lys227Arg, NP_001122390.2:p.Lys227Arg, NP_001122391.2:p.Lys227Arg, NP_001122392.2:p.Lys227Arg, XP_005267698.2:p.Lys227Arg, XP_005267699.2:p.Lys227Arg, XP_005267700.2:p.Lys227Arg, XP_011535071.1:p.Lys147Arg, XP_016876780.1:p.Lys227Arg, XP_016876781.1:p.Lys227Arg, XP_016876783.1:p.Lys163Arg, XP_016876784.1:p.Lys163Arg, XP_016876785.1:p.Lys163Arg, XP_016876786.1:p.Lys163Arg, XP_016876790.1:p.Lys96Arg, XP_016876787.1:p.Lys163Arg, XP_016876788.1:p.Lys163Arg, XP_047287334.1:p.Lys209Arg, XP_047287336.1:p.Lys209Arg, XP_047287338.1:p.Lys209Arg, XP_047287340.1:p.Lys209Arg, XP_047287344.1:p.Lys209Arg, XP_047287346.1:p.Lys163Arg, XP_047287347.1:p.Lys227Arg, XP_047287348.1:p.Lys209Arg, XP_047287337.1:p.Lys213Arg, XP_047287341.1:p.Lys213Arg, XP_047287342.1:p.Lys195Arg, XP_047287333.1:p.Lys213Arg, XP_047287335.1:p.Lys213Arg, XP_047287339.1:p.Lys213Arg, XP_047287343.1:p.Lys213Arg, XP_047287345.1:p.Lys147Arg, XP_047287349.1:p.Lys70Arg, XP_047287350.1:p.Lys70Arg, XP_047287351.1:p.Lys70Arg, XP_047287352.1:p.Lys70Arg

      3.

      rs1486605452 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        14:103428414 (GRCh38)
        14:103894751 (GRCh37)
        Canonical SPDI:
        NC_000014.9:103428413:C:T
        Gene:
        MARK3 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,stop_gained
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000031/1 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        NC_000014.9:g.103428414C>T, NC_000014.8:g.103894751C>T, NG_030339.2:g.48051C>T, NM_002376.7:c.271C>T, NM_002376.6:c.271C>T, NM_002376.5:c.271C>T, NM_001128918.3:c.271C>T, NM_001128918.2:c.271C>T, NM_001128918.1:c.271C>T, NM_001128919.3:c.271C>T, NM_001128919.2:c.271C>T, NM_001128919.1:c.271C>T, NM_001128920.3:c.271C>T, NM_001128920.2:c.271C>T, NM_001128920.1:c.271C>T, NM_001128921.3:c.271C>T, NM_001128921.2:c.271C>T, NM_001128921.1:c.271C>T, NM_001411056.1:c.79C>T, XM_005267641.6:c.271C>T, XM_005267641.5:c.271C>T, XM_005267641.4:c.271C>T, XM_005267641.3:c.271C>T, XM_005267641.2:c.271C>T, XM_005267641.1:c.271C>T, XM_005267642.6:c.271C>T, XM_005267642.5:c.271C>T, XM_005267642.4:c.271C>T, XM_005267642.3:c.271C>T, XM_005267642.2:c.271C>T, XM_005267642.1:c.271C>T, XM_005267643.6:c.271C>T, XM_005267643.5:c.271C>T, XM_005267643.4:c.271C>T, XM_005267643.3:c.271C>T, XM_005267643.2:c.271C>T, XM_005267643.1:c.271C>T, XM_011536769.4:c.31C>T, XM_011536769.3:c.31C>T, XM_011536769.2:c.31C>T, XM_011536769.1:c.31C>T, XM_017021291.3:c.271C>T, XM_017021291.2:c.271C>T, XM_017021291.1:c.271C>T, XM_017021292.3:c.271C>T, XM_017021292.2:c.271C>T, XM_017021292.1:c.271C>T, XM_017021294.3:c.79C>T, XM_017021294.2:c.79C>T, XM_017021294.1:c.79C>T, XM_017021295.3:c.79C>T, XM_017021295.2:c.79C>T, XM_017021295.1:c.79C>T, XM_017021296.3:c.79C>T, XM_017021297.3:c.79C>T, XM_017021297.2:c.79C>T, XM_017021297.1:c.79C>T, XM_017021301.3:c.-74C>T, XM_017021301.2:c.-74C>T, XM_017021301.1:c.-74C>T, XM_017021298.3:c.79C>T, XM_017021298.2:c.79C>T, XM_017021298.1:c.79C>T, XM_017021299.3:c.79C>T, XM_017021299.2:c.79C>T, XM_017021299.1:c.79C>T, XM_047431390.1:c.79C>T, XM_047431391.1:c.271C>T, XM_047431381.1:c.229C>T, XM_047431385.1:c.229C>T, XM_047431377.1:c.229C>T, XM_047431379.1:c.229C>T, XM_047431383.1:c.229C>T, XM_047431387.1:c.229C>T, XM_047431389.1:c.31C>T, XM_047431394.1:c.-81C>T, NP_002367.5:p.Gln91Ter, NP_001122390.2:p.Gln91Ter, NP_001122391.2:p.Gln91Ter, NP_001122392.2:p.Gln91Ter, NP_001122393.2:p.Gln91Ter, XP_005267698.2:p.Gln91Ter, XP_005267699.2:p.Gln91Ter, XP_005267700.2:p.Gln91Ter, XP_011535071.1:p.Gln11Ter, XP_016876780.1:p.Gln91Ter, XP_016876781.1:p.Gln91Ter, XP_016876783.1:p.Gln27Ter, XP_016876784.1:p.Gln27Ter, XP_016876785.1:p.Gln27Ter, XP_016876786.1:p.Gln27Ter, XP_016876787.1:p.Gln27Ter, XP_016876788.1:p.Gln27Ter, XP_047287346.1:p.Gln27Ter, XP_047287347.1:p.Gln91Ter, XP_047287337.1:p.Gln77Ter, XP_047287341.1:p.Gln77Ter, XP_047287333.1:p.Gln77Ter, XP_047287335.1:p.Gln77Ter, XP_047287339.1:p.Gln77Ter, XP_047287343.1:p.Gln77Ter, XP_047287345.1:p.Gln11Ter

        4.

        rs1483714682 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          14:103451937 (GRCh38)
          14:103918274 (GRCh37)
          Canonical SPDI:
          NC_000014.9:103451936:T:C
          Gene:
          MARK3 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000014.9:g.103451937T>C, NC_000014.8:g.103918274T>C, NG_030339.2:g.71574T>C, NM_002376.7:c.366T>C, NM_002376.6:c.366T>C, NM_002376.5:c.366T>C, NM_001128918.3:c.366T>C, NM_001128918.2:c.366T>C, NM_001128918.1:c.366T>C, NM_001128919.3:c.366T>C, NM_001128919.2:c.366T>C, NM_001128919.1:c.366T>C, NM_001128920.3:c.366T>C, NM_001128920.2:c.366T>C, NM_001128920.1:c.366T>C, NM_001128921.3:c.366T>C, NM_001128921.2:c.366T>C, NM_001128921.1:c.366T>C, NM_001411055.1:c.312T>C, NM_001411056.1:c.174T>C, XM_005267641.6:c.366T>C, XM_005267641.5:c.366T>C, XM_005267641.4:c.366T>C, XM_005267641.3:c.366T>C, XM_005267641.2:c.366T>C, XM_005267641.1:c.366T>C, XM_005267642.6:c.366T>C, XM_005267642.5:c.366T>C, XM_005267642.4:c.366T>C, XM_005267642.3:c.366T>C, XM_005267642.2:c.366T>C, XM_005267642.1:c.366T>C, XM_005267643.6:c.366T>C, XM_005267643.5:c.366T>C, XM_005267643.4:c.366T>C, XM_005267643.3:c.366T>C, XM_005267643.2:c.366T>C, XM_005267643.1:c.366T>C, XM_011536769.4:c.126T>C, XM_011536769.3:c.126T>C, XM_011536769.2:c.126T>C, XM_011536769.1:c.126T>C, XM_017021291.3:c.366T>C, XM_017021291.2:c.366T>C, XM_017021291.1:c.366T>C, XM_017021292.3:c.366T>C, XM_017021292.2:c.366T>C, XM_017021292.1:c.366T>C, XM_017021294.3:c.174T>C, XM_017021294.2:c.174T>C, XM_017021294.1:c.174T>C, XM_017021295.3:c.174T>C, XM_017021295.2:c.174T>C, XM_017021295.1:c.174T>C, XM_017021296.3:c.174T>C, XM_017021297.3:c.174T>C, XM_017021297.2:c.174T>C, XM_017021297.1:c.174T>C, XM_017021301.3:c.-28T>C, XM_017021301.2:c.-28T>C, XM_017021301.1:c.-28T>C, XM_017021298.3:c.174T>C, XM_017021298.2:c.174T>C, XM_017021298.1:c.174T>C, XM_017021299.3:c.174T>C, XM_017021299.2:c.174T>C, XM_017021299.1:c.174T>C, XM_047431378.1:c.312T>C, XM_047431380.1:c.312T>C, XM_047431382.1:c.312T>C, XM_047431384.1:c.312T>C, XM_047431388.1:c.312T>C, XM_047431390.1:c.174T>C, XM_047431391.1:c.366T>C, XM_047431392.1:c.312T>C, XM_047431381.1:c.324T>C, XM_047431385.1:c.324T>C, XM_047431386.1:c.270T>C, XM_047431377.1:c.324T>C, XM_047431379.1:c.324T>C, XM_047431383.1:c.324T>C, XM_047431387.1:c.324T>C, XM_047431389.1:c.126T>C, XM_047431393.1:c.-35T>C, XM_047431394.1:c.-35T>C

          5.

          rs1481848819 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            14:103465672 (GRCh38)
            14:103932009 (GRCh37)
            Canonical SPDI:
            NC_000014.9:103465671:C:A,NC_000014.9:103465671:C:T
            Gene:
            MARK3 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000014.9:g.103465672C>A, NC_000014.9:g.103465672C>T, NC_000014.8:g.103932009C>A, NC_000014.8:g.103932009C>T, NG_030339.2:g.85309C>A, NG_030339.2:g.85309C>T, NM_002376.7:c.656C>A, NM_002376.7:c.656C>T, NM_002376.6:c.656C>A, NM_002376.6:c.656C>T, NM_002376.5:c.656C>A, NM_002376.5:c.656C>T, NM_001128918.3:c.656C>A, NM_001128918.3:c.656C>T, NM_001128918.2:c.656C>A, NM_001128918.2:c.656C>T, NM_001128918.1:c.656C>A, NM_001128918.1:c.656C>T, NM_001128919.3:c.656C>A, NM_001128919.3:c.656C>T, NM_001128919.2:c.656C>A, NM_001128919.2:c.656C>T, NM_001128919.1:c.656C>A, NM_001128919.1:c.656C>T, NM_001128920.3:c.656C>A, NM_001128920.3:c.656C>T, NM_001128920.2:c.656C>A, NM_001128920.2:c.656C>T, NM_001128920.1:c.656C>A, NM_001128920.1:c.656C>T, NM_001411055.1:c.602C>A, NM_001411055.1:c.602C>T, NM_001411056.1:c.464C>A, NM_001411056.1:c.464C>T, XM_005267641.6:c.656C>A, XM_005267641.6:c.656C>T, XM_005267641.5:c.656C>A, XM_005267641.5:c.656C>T, XM_005267641.4:c.656C>A, XM_005267641.4:c.656C>T, XM_005267641.3:c.656C>A, XM_005267641.3:c.656C>T, XM_005267641.2:c.656C>A, XM_005267641.2:c.656C>T, XM_005267641.1:c.656C>A, XM_005267641.1:c.656C>T, XM_005267642.6:c.656C>A, XM_005267642.6:c.656C>T, XM_005267642.5:c.656C>A, XM_005267642.5:c.656C>T, XM_005267642.4:c.656C>A, XM_005267642.4:c.656C>T, XM_005267642.3:c.656C>A, XM_005267642.3:c.656C>T, XM_005267642.2:c.656C>A, XM_005267642.2:c.656C>T, XM_005267642.1:c.656C>A, XM_005267642.1:c.656C>T, XM_005267643.6:c.656C>A, XM_005267643.6:c.656C>T, XM_005267643.5:c.656C>A, XM_005267643.5:c.656C>T, XM_005267643.4:c.656C>A, XM_005267643.4:c.656C>T, XM_005267643.3:c.656C>A, XM_005267643.3:c.656C>T, XM_005267643.2:c.656C>A, XM_005267643.2:c.656C>T, XM_005267643.1:c.656C>A, XM_005267643.1:c.656C>T, XM_011536769.4:c.416C>A, XM_011536769.4:c.416C>T, XM_011536769.3:c.416C>A, XM_011536769.3:c.416C>T, XM_011536769.2:c.416C>A, XM_011536769.2:c.416C>T, XM_011536769.1:c.416C>A, XM_011536769.1:c.416C>T, XM_017021291.3:c.656C>A, XM_017021291.3:c.656C>T, XM_017021291.2:c.656C>A, XM_017021291.2:c.656C>T, XM_017021291.1:c.656C>A, XM_017021291.1:c.656C>T, XM_017021292.3:c.656C>A, XM_017021292.3:c.656C>T, XM_017021292.2:c.656C>A, XM_017021292.2:c.656C>T, XM_017021292.1:c.656C>A, XM_017021292.1:c.656C>T, XM_017021294.3:c.464C>A, XM_017021294.3:c.464C>T, XM_017021294.2:c.464C>A, XM_017021294.2:c.464C>T, XM_017021294.1:c.464C>A, XM_017021294.1:c.464C>T, XM_017021295.3:c.464C>A, XM_017021295.3:c.464C>T, XM_017021295.2:c.464C>A, XM_017021295.2:c.464C>T, XM_017021295.1:c.464C>A, XM_017021295.1:c.464C>T, XM_017021296.3:c.464C>A, XM_017021296.3:c.464C>T, XM_017021297.3:c.464C>A, XM_017021297.3:c.464C>T, XM_017021297.2:c.464C>A, XM_017021297.2:c.464C>T, XM_017021297.1:c.464C>A, XM_017021297.1:c.464C>T, XM_017021301.3:c.263C>A, XM_017021301.3:c.263C>T, XM_017021301.2:c.263C>A, XM_017021301.2:c.263C>T, XM_017021301.1:c.263C>A, XM_017021301.1:c.263C>T, XM_017021298.3:c.464C>A, XM_017021298.3:c.464C>T, XM_017021298.2:c.464C>A, XM_017021298.2:c.464C>T, XM_017021298.1:c.464C>A, XM_017021298.1:c.464C>T, XM_017021299.3:c.464C>A, XM_017021299.3:c.464C>T, XM_017021299.2:c.464C>A, XM_017021299.2:c.464C>T, XM_017021299.1:c.464C>A, XM_017021299.1:c.464C>T, XM_047431378.1:c.602C>A, XM_047431378.1:c.602C>T, XM_047431380.1:c.602C>A, XM_047431380.1:c.602C>T, XM_047431382.1:c.602C>A, XM_047431382.1:c.602C>T, XM_047431384.1:c.602C>A, XM_047431384.1:c.602C>T, XM_047431388.1:c.602C>A, XM_047431388.1:c.602C>T, XM_047431390.1:c.464C>A, XM_047431390.1:c.464C>T, XM_047431391.1:c.656C>A, XM_047431391.1:c.656C>T, XM_047431392.1:c.602C>A, XM_047431392.1:c.602C>T, XM_047431381.1:c.614C>A, XM_047431381.1:c.614C>T, XM_047431385.1:c.614C>A, XM_047431385.1:c.614C>T, XM_047431386.1:c.560C>A, XM_047431386.1:c.560C>T, XM_047431377.1:c.614C>A, XM_047431377.1:c.614C>T, XM_047431379.1:c.614C>A, XM_047431379.1:c.614C>T, XM_047431383.1:c.614C>A, XM_047431383.1:c.614C>T, XM_047431387.1:c.614C>A, XM_047431387.1:c.614C>T, XM_047431389.1:c.416C>A, XM_047431389.1:c.416C>T, XM_047431393.1:c.185C>A, XM_047431393.1:c.185C>T, XM_047431394.1:c.185C>A, XM_047431394.1:c.185C>T, XM_047431395.1:c.185C>A, XM_047431395.1:c.185C>T, XM_047431396.1:c.185C>A, XM_047431396.1:c.185C>T, NP_002367.5:p.Ala219Glu, NP_002367.5:p.Ala219Val, NP_001122390.2:p.Ala219Glu, NP_001122390.2:p.Ala219Val, NP_001122391.2:p.Ala219Glu, NP_001122391.2:p.Ala219Val, NP_001122392.2:p.Ala219Glu, NP_001122392.2:p.Ala219Val, XP_005267698.2:p.Ala219Glu, XP_005267698.2:p.Ala219Val, XP_005267699.2:p.Ala219Glu, XP_005267699.2:p.Ala219Val, XP_005267700.2:p.Ala219Glu, XP_005267700.2:p.Ala219Val, XP_011535071.1:p.Ala139Glu, XP_011535071.1:p.Ala139Val, XP_016876780.1:p.Ala219Glu, XP_016876780.1:p.Ala219Val, XP_016876781.1:p.Ala219Glu, XP_016876781.1:p.Ala219Val, XP_016876783.1:p.Ala155Glu, XP_016876783.1:p.Ala155Val, XP_016876784.1:p.Ala155Glu, XP_016876784.1:p.Ala155Val, XP_016876785.1:p.Ala155Glu, XP_016876785.1:p.Ala155Val, XP_016876786.1:p.Ala155Glu, XP_016876786.1:p.Ala155Val, XP_016876790.1:p.Ala88Glu, XP_016876790.1:p.Ala88Val, XP_016876787.1:p.Ala155Glu, XP_016876787.1:p.Ala155Val, XP_016876788.1:p.Ala155Glu, XP_016876788.1:p.Ala155Val, XP_047287334.1:p.Ala201Glu, XP_047287334.1:p.Ala201Val, XP_047287336.1:p.Ala201Glu, XP_047287336.1:p.Ala201Val, XP_047287338.1:p.Ala201Glu, XP_047287338.1:p.Ala201Val, XP_047287340.1:p.Ala201Glu, XP_047287340.1:p.Ala201Val, XP_047287344.1:p.Ala201Glu, XP_047287344.1:p.Ala201Val, XP_047287346.1:p.Ala155Glu, XP_047287346.1:p.Ala155Val, XP_047287347.1:p.Ala219Glu, XP_047287347.1:p.Ala219Val, XP_047287348.1:p.Ala201Glu, XP_047287348.1:p.Ala201Val, XP_047287337.1:p.Ala205Glu, XP_047287337.1:p.Ala205Val, XP_047287341.1:p.Ala205Glu, XP_047287341.1:p.Ala205Val, XP_047287342.1:p.Ala187Glu, XP_047287342.1:p.Ala187Val, XP_047287333.1:p.Ala205Glu, XP_047287333.1:p.Ala205Val, XP_047287335.1:p.Ala205Glu, XP_047287335.1:p.Ala205Val, XP_047287339.1:p.Ala205Glu, XP_047287339.1:p.Ala205Val, XP_047287343.1:p.Ala205Glu, XP_047287343.1:p.Ala205Val, XP_047287345.1:p.Ala139Glu, XP_047287345.1:p.Ala139Val, XP_047287349.1:p.Ala62Glu, XP_047287349.1:p.Ala62Val, XP_047287350.1:p.Ala62Glu, XP_047287350.1:p.Ala62Val, XP_047287351.1:p.Ala62Glu, XP_047287351.1:p.Ala62Val, XP_047287352.1:p.Ala62Glu, XP_047287352.1:p.Ala62Val

            6.

            rs1481087433 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              14:103428426 (GRCh38)
              14:103894763 (GRCh37)
              Canonical SPDI:
              NC_000014.9:103428425:A:G
              Gene:
              MARK3 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
              HGVS:
              NC_000014.9:g.103428426A>G, NC_000014.8:g.103894763A>G, NG_030339.2:g.48063A>G, NM_002376.7:c.283A>G, NM_002376.6:c.283A>G, NM_002376.5:c.283A>G, NM_001128918.3:c.283A>G, NM_001128918.2:c.283A>G, NM_001128918.1:c.283A>G, NM_001128919.3:c.283A>G, NM_001128919.2:c.283A>G, NM_001128919.1:c.283A>G, NM_001128920.3:c.283A>G, NM_001128920.2:c.283A>G, NM_001128920.1:c.283A>G, NM_001128921.3:c.283A>G, NM_001128921.2:c.283A>G, NM_001128921.1:c.283A>G, NM_001411056.1:c.91A>G, XM_005267641.6:c.283A>G, XM_005267641.5:c.283A>G, XM_005267641.4:c.283A>G, XM_005267641.3:c.283A>G, XM_005267641.2:c.283A>G, XM_005267641.1:c.283A>G, XM_005267642.6:c.283A>G, XM_005267642.5:c.283A>G, XM_005267642.4:c.283A>G, XM_005267642.3:c.283A>G, XM_005267642.2:c.283A>G, XM_005267642.1:c.283A>G, XM_005267643.6:c.283A>G, XM_005267643.5:c.283A>G, XM_005267643.4:c.283A>G, XM_005267643.3:c.283A>G, XM_005267643.2:c.283A>G, XM_005267643.1:c.283A>G, XM_011536769.4:c.43A>G, XM_011536769.3:c.43A>G, XM_011536769.2:c.43A>G, XM_011536769.1:c.43A>G, XM_017021291.3:c.283A>G, XM_017021291.2:c.283A>G, XM_017021291.1:c.283A>G, XM_017021292.3:c.283A>G, XM_017021292.2:c.283A>G, XM_017021292.1:c.283A>G, XM_017021294.3:c.91A>G, XM_017021294.2:c.91A>G, XM_017021294.1:c.91A>G, XM_017021295.3:c.91A>G, XM_017021295.2:c.91A>G, XM_017021295.1:c.91A>G, XM_017021296.3:c.91A>G, XM_017021297.3:c.91A>G, XM_017021297.2:c.91A>G, XM_017021297.1:c.91A>G, XM_017021301.3:c.-62A>G, XM_017021301.2:c.-62A>G, XM_017021301.1:c.-62A>G, XM_017021298.3:c.91A>G, XM_017021298.2:c.91A>G, XM_017021298.1:c.91A>G, XM_017021299.3:c.91A>G, XM_017021299.2:c.91A>G, XM_017021299.1:c.91A>G, XM_047431390.1:c.91A>G, XM_047431391.1:c.283A>G, XM_047431381.1:c.241A>G, XM_047431385.1:c.241A>G, XM_047431377.1:c.241A>G, XM_047431379.1:c.241A>G, XM_047431383.1:c.241A>G, XM_047431387.1:c.241A>G, XM_047431389.1:c.43A>G, XM_047431394.1:c.-69A>G, NP_002367.5:p.Thr95Ala, NP_001122390.2:p.Thr95Ala, NP_001122391.2:p.Thr95Ala, NP_001122392.2:p.Thr95Ala, NP_001122393.2:p.Thr95Ala, XP_005267698.2:p.Thr95Ala, XP_005267699.2:p.Thr95Ala, XP_005267700.2:p.Thr95Ala, XP_011535071.1:p.Thr15Ala, XP_016876780.1:p.Thr95Ala, XP_016876781.1:p.Thr95Ala, XP_016876783.1:p.Thr31Ala, XP_016876784.1:p.Thr31Ala, XP_016876785.1:p.Thr31Ala, XP_016876786.1:p.Thr31Ala, XP_016876787.1:p.Thr31Ala, XP_016876788.1:p.Thr31Ala, XP_047287346.1:p.Thr31Ala, XP_047287347.1:p.Thr95Ala, XP_047287337.1:p.Thr81Ala, XP_047287341.1:p.Thr81Ala, XP_047287333.1:p.Thr81Ala, XP_047287335.1:p.Thr81Ala, XP_047287339.1:p.Thr81Ala, XP_047287343.1:p.Thr81Ala, XP_047287345.1:p.Thr15Ala

              7.

              rs1480796396 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                14:103502923 (GRCh38)
                14:103969260 (GRCh37)
                Canonical SPDI:
                NC_000014.9:103502922:C:G
                Gene:
                MARK3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000014.9:g.103502923C>G, NC_000014.8:g.103969260C>G, NG_030339.2:g.122560C>G, NM_002376.7:c.1886C>G, NM_002376.6:c.1886C>G, NM_002376.5:c.1886C>G, NM_001128918.3:c.1958C>G, NM_001128918.2:c.1958C>G, NM_001128918.1:c.1958C>G, NM_001128919.3:c.1931C>G, NM_001128919.2:c.1931C>G, NM_001128919.1:c.1931C>G, NM_001128920.3:c.1838C>G, NM_001128920.2:c.1838C>G, NM_001128920.1:c.1838C>G, NM_001128921.3:c.1676C>G, NM_001128921.2:c.1676C>G, NM_001128921.1:c.1676C>G, NM_001411055.1:c.1877C>G, NM_001411056.1:c.1721C>G, XM_005267641.6:c.1913C>G, XM_005267641.5:c.1913C>G, XM_005267641.4:c.1913C>G, XM_005267641.3:c.1913C>G, XM_005267641.2:c.1913C>G, XM_005267641.1:c.1913C>G, XM_005267642.6:c.1910C>G, XM_005267642.5:c.1910C>G, XM_005267642.4:c.1910C>G, XM_005267642.3:c.1910C>G, XM_005267642.2:c.1910C>G, XM_005267642.1:c.1910C>G, XM_005267643.6:c.1628C>G, XM_005267643.5:c.1628C>G, XM_005267643.4:c.1628C>G, XM_005267643.3:c.1628C>G, XM_005267643.2:c.1628C>G, XM_005267643.1:c.1628C>G, XM_011536769.4:c.1718C>G, XM_011536769.3:c.1718C>G, XM_011536769.2:c.1718C>G, XM_011536769.1:c.1718C>G, XM_017021291.3:c.1883C>G, XM_017021291.2:c.1883C>G, XM_017021291.1:c.1883C>G, XM_017021292.3:c.1865C>G, XM_017021292.2:c.1865C>G, XM_017021292.1:c.1865C>G, XM_017021294.3:c.1766C>G, XM_017021294.2:c.1766C>G, XM_017021294.1:c.1766C>G, XM_017021295.3:c.1739C>G, XM_017021295.2:c.1739C>G, XM_017021295.1:c.1739C>G, XM_017021296.3:c.1721C>G, XM_017021297.3:c.1718C>G, XM_017021297.2:c.1718C>G, XM_017021297.1:c.1718C>G, XM_017021301.3:c.1565C>G, XM_017021301.2:c.1565C>G, XM_017021301.1:c.1565C>G, XM_017021298.3:c.1694C>G, XM_017021298.2:c.1694C>G, XM_017021298.1:c.1694C>G, XM_017021299.3:c.1691C>G, XM_017021299.2:c.1691C>G, XM_017021299.1:c.1691C>G, XM_047431378.1:c.1904C>G, XM_047431380.1:c.1877C>G, XM_047431382.1:c.1859C>G, XM_047431384.1:c.1832C>G, XM_047431388.1:c.1784C>G, XM_047431390.1:c.1646C>G, XM_047431391.1:c.1580C>G, XM_047431392.1:c.1574C>G, XM_047431381.1:c.1868C>G, XM_047431385.1:c.1823C>G, XM_047431386.1:c.1814C>G, XM_047431377.1:c.1916C>G, XM_047431379.1:c.1889C>G, XM_047431383.1:c.1844C>G, XM_047431387.1:c.1796C>G, XM_047431389.1:c.1646C>G, XM_047431393.1:c.1487C>G, XM_047431394.1:c.1487C>G, XM_047431395.1:c.1487C>G, XM_047431396.1:c.1394C>G, NP_002367.5:p.Ala629Gly, NP_001122390.2:p.Ala653Gly, NP_001122391.2:p.Ala644Gly, NP_001122392.2:p.Ala613Gly, NP_001122393.2:p.Ala559Gly, XP_005267698.2:p.Ala638Gly, XP_005267699.2:p.Ala637Gly, XP_005267700.2:p.Ala543Gly, XP_011535071.1:p.Ala573Gly, XP_016876780.1:p.Ala628Gly, XP_016876781.1:p.Ala622Gly, XP_016876783.1:p.Ala589Gly, XP_016876784.1:p.Ala580Gly, XP_016876785.1:p.Ala574Gly, XP_016876786.1:p.Ala573Gly, XP_016876790.1:p.Ala522Gly, XP_016876787.1:p.Ala565Gly, XP_016876788.1:p.Ala564Gly, XP_047287334.1:p.Ala635Gly, XP_047287336.1:p.Ala626Gly, XP_047287338.1:p.Ala620Gly, XP_047287340.1:p.Ala611Gly, XP_047287344.1:p.Ala595Gly, XP_047287346.1:p.Ala549Gly, XP_047287347.1:p.Ala527Gly, XP_047287348.1:p.Ala525Gly, XP_047287337.1:p.Ala623Gly, XP_047287341.1:p.Ala608Gly, XP_047287342.1:p.Ala605Gly, XP_047287333.1:p.Ala639Gly, XP_047287335.1:p.Ala630Gly, XP_047287339.1:p.Ala615Gly, XP_047287343.1:p.Ala599Gly, XP_047287345.1:p.Ala549Gly, XP_047287349.1:p.Ala496Gly, XP_047287350.1:p.Ala496Gly, XP_047287351.1:p.Ala496Gly, XP_047287352.1:p.Ala465Gly

                8.

                rs1479163259 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  14:103503209 (GRCh38)
                  14:103969546 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:103503208:C:G
                  Gene:
                  MARK3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.103503209C>G, NC_000014.8:g.103969546C>G, NG_030339.2:g.122846C>G, NM_002376.7:c.2172C>G, NM_002376.6:c.2172C>G, NM_002376.5:c.2172C>G, NM_001128918.3:c.2244C>G, NM_001128918.2:c.2244C>G, NM_001128918.1:c.2244C>G, NM_001128919.3:c.2217C>G, NM_001128919.2:c.2217C>G, NM_001128919.1:c.2217C>G, NM_001128920.3:c.2124C>G, NM_001128920.2:c.2124C>G, NM_001128920.1:c.2124C>G, NM_001128921.3:c.1962C>G, NM_001128921.2:c.1962C>G, NM_001128921.1:c.1962C>G, NM_001411055.1:c.2163C>G, NM_001411056.1:c.2007C>G, XM_005267641.6:c.2199C>G, XM_005267641.5:c.2199C>G, XM_005267641.4:c.2199C>G, XM_005267641.3:c.2199C>G, XM_005267641.2:c.2199C>G, XM_005267641.1:c.2199C>G, XM_005267642.6:c.2196C>G, XM_005267642.5:c.2196C>G, XM_005267642.4:c.2196C>G, XM_005267642.3:c.2196C>G, XM_005267642.2:c.2196C>G, XM_005267642.1:c.2196C>G, XM_005267643.6:c.1914C>G, XM_005267643.5:c.1914C>G, XM_005267643.4:c.1914C>G, XM_005267643.3:c.1914C>G, XM_005267643.2:c.1914C>G, XM_005267643.1:c.1914C>G, XM_011536769.4:c.2004C>G, XM_011536769.3:c.2004C>G, XM_011536769.2:c.2004C>G, XM_011536769.1:c.2004C>G, XM_017021291.3:c.2169C>G, XM_017021291.2:c.2169C>G, XM_017021291.1:c.2169C>G, XM_017021292.3:c.2151C>G, XM_017021292.2:c.2151C>G, XM_017021292.1:c.2151C>G, XM_017021294.3:c.2052C>G, XM_017021294.2:c.2052C>G, XM_017021294.1:c.2052C>G, XM_017021295.3:c.2025C>G, XM_017021295.2:c.2025C>G, XM_017021295.1:c.2025C>G, XM_017021296.3:c.2007C>G, XM_017021297.3:c.2004C>G, XM_017021297.2:c.2004C>G, XM_017021297.1:c.2004C>G, XM_017021301.3:c.1851C>G, XM_017021301.2:c.1851C>G, XM_017021301.1:c.1851C>G, XM_017021298.3:c.1980C>G, XM_017021298.2:c.1980C>G, XM_017021298.1:c.1980C>G, XM_017021299.3:c.1977C>G, XM_017021299.2:c.1977C>G, XM_017021299.1:c.1977C>G, XM_047431378.1:c.2190C>G, XM_047431380.1:c.2163C>G, XM_047431382.1:c.2145C>G, XM_047431384.1:c.2118C>G, XM_047431388.1:c.2070C>G, XM_047431390.1:c.1932C>G, XM_047431391.1:c.1866C>G, XM_047431392.1:c.1860C>G, XM_047431381.1:c.2154C>G, XM_047431385.1:c.2109C>G, XM_047431386.1:c.2100C>G, XM_047431377.1:c.2202C>G, XM_047431379.1:c.2175C>G, XM_047431383.1:c.2130C>G, XM_047431387.1:c.2082C>G, XM_047431389.1:c.1932C>G, XM_047431393.1:c.1773C>G, XM_047431394.1:c.1773C>G, XM_047431395.1:c.1773C>G, XM_047431396.1:c.1680C>G

                  9.

                  rs1474311125 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:103466375 (GRCh38)
                    14:103932712 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:103466374:G:A
                    Gene:
                    MARK3 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.103466375G>A, NC_000014.8:g.103932712G>A, NG_030339.2:g.86012G>A, NM_002376.7:c.930G>A, NM_002376.6:c.930G>A, NM_002376.5:c.930G>A, NM_001128918.3:c.930G>A, NM_001128918.2:c.930G>A, NM_001128918.1:c.930G>A, NM_001128919.3:c.930G>A, NM_001128919.2:c.930G>A, NM_001128919.1:c.930G>A, NM_001128920.3:c.930G>A, NM_001128920.2:c.930G>A, NM_001128920.1:c.930G>A, NM_001128921.3:c.693G>A, NM_001128921.2:c.693G>A, NM_001128921.1:c.693G>A, NM_001411055.1:c.876G>A, NM_001411056.1:c.738G>A, XM_005267641.6:c.930G>A, XM_005267641.5:c.930G>A, XM_005267641.4:c.930G>A, XM_005267641.3:c.930G>A, XM_005267641.2:c.930G>A, XM_005267641.1:c.930G>A, XM_005267642.6:c.930G>A, XM_005267642.5:c.930G>A, XM_005267642.4:c.930G>A, XM_005267642.3:c.930G>A, XM_005267642.2:c.930G>A, XM_005267642.1:c.930G>A, XM_005267643.6:c.930G>A, XM_005267643.5:c.930G>A, XM_005267643.4:c.930G>A, XM_005267643.3:c.930G>A, XM_005267643.2:c.930G>A, XM_005267643.1:c.930G>A, XM_011536769.4:c.690G>A, XM_011536769.3:c.690G>A, XM_011536769.2:c.690G>A, XM_011536769.1:c.690G>A, XM_017021291.3:c.930G>A, XM_017021291.2:c.930G>A, XM_017021291.1:c.930G>A, XM_017021292.3:c.930G>A, XM_017021292.2:c.930G>A, XM_017021292.1:c.930G>A, XM_017021294.3:c.738G>A, XM_017021294.2:c.738G>A, XM_017021294.1:c.738G>A, XM_017021295.3:c.738G>A, XM_017021295.2:c.738G>A, XM_017021295.1:c.738G>A, XM_017021296.3:c.738G>A, XM_017021297.3:c.738G>A, XM_017021297.2:c.738G>A, XM_017021297.1:c.738G>A, XM_017021301.3:c.537G>A, XM_017021301.2:c.537G>A, XM_017021301.1:c.537G>A, XM_017021298.3:c.738G>A, XM_017021298.2:c.738G>A, XM_017021298.1:c.738G>A, XM_017021299.3:c.738G>A, XM_017021299.2:c.738G>A, XM_017021299.1:c.738G>A, XM_047431378.1:c.876G>A, XM_047431380.1:c.876G>A, XM_047431382.1:c.876G>A, XM_047431384.1:c.876G>A, XM_047431388.1:c.876G>A, XM_047431390.1:c.738G>A, XM_047431391.1:c.930G>A, XM_047431392.1:c.876G>A, XM_047431381.1:c.888G>A, XM_047431385.1:c.888G>A, XM_047431386.1:c.834G>A, XM_047431377.1:c.888G>A, XM_047431379.1:c.888G>A, XM_047431383.1:c.888G>A, XM_047431387.1:c.888G>A, XM_047431389.1:c.690G>A, XM_047431393.1:c.459G>A, XM_047431394.1:c.459G>A, XM_047431395.1:c.459G>A, XM_047431396.1:c.459G>A

                    10.

                    rs1472212961 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      14:103468098 (GRCh38)
                      14:103934435 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:103468097:T:G
                      Gene:
                      MARK3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.103468098T>G, NC_000014.8:g.103934435T>G, NG_030339.2:g.87735T>G, NM_002376.7:c.1176T>G, NM_002376.6:c.1176T>G, NM_002376.5:c.1176T>G, NM_001128918.3:c.1176T>G, NM_001128918.2:c.1176T>G, NM_001128918.1:c.1176T>G, NM_001128919.3:c.1176T>G, NM_001128919.2:c.1176T>G, NM_001128919.1:c.1176T>G, NM_001128920.3:c.1128T>G, NM_001128920.2:c.1128T>G, NM_001128920.1:c.1128T>G, NM_001128921.3:c.939T>G, NM_001128921.2:c.939T>G, NM_001128921.1:c.939T>G, NM_001411055.1:c.1122T>G, NM_001411056.1:c.984T>G, XM_005267641.6:c.1176T>G, XM_005267641.5:c.1176T>G, XM_005267641.4:c.1176T>G, XM_005267641.3:c.1176T>G, XM_005267641.2:c.1176T>G, XM_005267641.1:c.1176T>G, XM_005267642.6:c.1128T>G, XM_005267642.5:c.1128T>G, XM_005267642.4:c.1128T>G, XM_005267642.3:c.1128T>G, XM_005267642.2:c.1128T>G, XM_005267642.1:c.1128T>G, XM_005267643.6:c.1176T>G, XM_005267643.5:c.1176T>G, XM_005267643.4:c.1176T>G, XM_005267643.3:c.1176T>G, XM_005267643.2:c.1176T>G, XM_005267643.1:c.1176T>G, XM_011536769.4:c.936T>G, XM_011536769.3:c.936T>G, XM_011536769.2:c.936T>G, XM_011536769.1:c.936T>G, XM_017021291.3:c.1128T>G, XM_017021291.2:c.1128T>G, XM_017021291.1:c.1128T>G, XM_017021292.3:c.1128T>G, XM_017021292.2:c.1128T>G, XM_017021292.1:c.1128T>G, XM_017021294.3:c.984T>G, XM_017021294.2:c.984T>G, XM_017021294.1:c.984T>G, XM_017021295.3:c.984T>G, XM_017021295.2:c.984T>G, XM_017021295.1:c.984T>G, XM_017021296.3:c.984T>G, XM_017021297.3:c.936T>G, XM_017021297.2:c.936T>G, XM_017021297.1:c.936T>G, XM_017021301.3:c.783T>G, XM_017021301.2:c.783T>G, XM_017021301.1:c.783T>G, XM_017021298.3:c.984T>G, XM_017021298.2:c.984T>G, XM_017021298.1:c.984T>G, XM_017021299.3:c.936T>G, XM_017021299.2:c.936T>G, XM_017021299.1:c.936T>G, XM_047431378.1:c.1122T>G, XM_047431380.1:c.1122T>G, XM_047431382.1:c.1122T>G, XM_047431384.1:c.1122T>G, XM_047431388.1:c.1074T>G, XM_047431390.1:c.936T>G, XM_047431391.1:c.1128T>G, XM_047431392.1:c.1122T>G, XM_047431381.1:c.1086T>G, XM_047431385.1:c.1086T>G, XM_047431386.1:c.1032T>G, XM_047431377.1:c.1134T>G, XM_047431379.1:c.1134T>G, XM_047431383.1:c.1134T>G, XM_047431387.1:c.1086T>G, XM_047431389.1:c.936T>G, XM_047431393.1:c.705T>G, XM_047431394.1:c.705T>G, XM_047431395.1:c.705T>G, XM_047431396.1:c.657T>G, NP_002367.5:p.Asp392Glu, NP_001122390.2:p.Asp392Glu, NP_001122391.2:p.Asp392Glu, NP_001122392.2:p.Asp376Glu, NP_001122393.2:p.Asp313Glu, XP_005267698.2:p.Asp392Glu, XP_005267699.2:p.Asp376Glu, XP_005267700.2:p.Asp392Glu, XP_011535071.1:p.Asp312Glu, XP_016876780.1:p.Asp376Glu, XP_016876781.1:p.Asp376Glu, XP_016876783.1:p.Asp328Glu, XP_016876784.1:p.Asp328Glu, XP_016876785.1:p.Asp328Glu, XP_016876786.1:p.Asp312Glu, XP_016876790.1:p.Asp261Glu, XP_016876787.1:p.Asp328Glu, XP_016876788.1:p.Asp312Glu, XP_047287334.1:p.Asp374Glu, XP_047287336.1:p.Asp374Glu, XP_047287338.1:p.Asp374Glu, XP_047287340.1:p.Asp374Glu, XP_047287344.1:p.Asp358Glu, XP_047287346.1:p.Asp312Glu, XP_047287347.1:p.Asp376Glu, XP_047287348.1:p.Asp374Glu, XP_047287337.1:p.Asp362Glu, XP_047287341.1:p.Asp362Glu, XP_047287342.1:p.Asp344Glu, XP_047287333.1:p.Asp378Glu, XP_047287335.1:p.Asp378Glu, XP_047287339.1:p.Asp378Glu, XP_047287343.1:p.Asp362Glu, XP_047287345.1:p.Asp312Glu, XP_047287349.1:p.Asp235Glu, XP_047287350.1:p.Asp235Glu, XP_047287351.1:p.Asp235Glu, XP_047287352.1:p.Asp219Glu

                      11.

                      rs1472018882 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        14:103503042 (GRCh38)
                        14:103969379 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:103503041:A:T
                        Gene:
                        MARK3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.103503042A>T, NC_000014.8:g.103969379A>T, NG_030339.2:g.122679A>T, NM_002376.7:c.2005A>T, NM_002376.6:c.2005A>T, NM_002376.5:c.2005A>T, NM_001128918.3:c.2077A>T, NM_001128918.2:c.2077A>T, NM_001128918.1:c.2077A>T, NM_001128919.3:c.2050A>T, NM_001128919.2:c.2050A>T, NM_001128919.1:c.2050A>T, NM_001128920.3:c.1957A>T, NM_001128920.2:c.1957A>T, NM_001128920.1:c.1957A>T, NM_001128921.3:c.1795A>T, NM_001128921.2:c.1795A>T, NM_001128921.1:c.1795A>T, NM_001411055.1:c.1996A>T, NM_001411056.1:c.1840A>T, XM_005267641.6:c.2032A>T, XM_005267641.5:c.2032A>T, XM_005267641.4:c.2032A>T, XM_005267641.3:c.2032A>T, XM_005267641.2:c.2032A>T, XM_005267641.1:c.2032A>T, XM_005267642.6:c.2029A>T, XM_005267642.5:c.2029A>T, XM_005267642.4:c.2029A>T, XM_005267642.3:c.2029A>T, XM_005267642.2:c.2029A>T, XM_005267642.1:c.2029A>T, XM_005267643.6:c.1747A>T, XM_005267643.5:c.1747A>T, XM_005267643.4:c.1747A>T, XM_005267643.3:c.1747A>T, XM_005267643.2:c.1747A>T, XM_005267643.1:c.1747A>T, XM_011536769.4:c.1837A>T, XM_011536769.3:c.1837A>T, XM_011536769.2:c.1837A>T, XM_011536769.1:c.1837A>T, XM_017021291.3:c.2002A>T, XM_017021291.2:c.2002A>T, XM_017021291.1:c.2002A>T, XM_017021292.3:c.1984A>T, XM_017021292.2:c.1984A>T, XM_017021292.1:c.1984A>T, XM_017021294.3:c.1885A>T, XM_017021294.2:c.1885A>T, XM_017021294.1:c.1885A>T, XM_017021295.3:c.1858A>T, XM_017021295.2:c.1858A>T, XM_017021295.1:c.1858A>T, XM_017021296.3:c.1840A>T, XM_017021297.3:c.1837A>T, XM_017021297.2:c.1837A>T, XM_017021297.1:c.1837A>T, XM_017021301.3:c.1684A>T, XM_017021301.2:c.1684A>T, XM_017021301.1:c.1684A>T, XM_017021298.3:c.1813A>T, XM_017021298.2:c.1813A>T, XM_017021298.1:c.1813A>T, XM_017021299.3:c.1810A>T, XM_017021299.2:c.1810A>T, XM_017021299.1:c.1810A>T, XM_047431378.1:c.2023A>T, XM_047431380.1:c.1996A>T, XM_047431382.1:c.1978A>T, XM_047431384.1:c.1951A>T, XM_047431388.1:c.1903A>T, XM_047431390.1:c.1765A>T, XM_047431391.1:c.1699A>T, XM_047431392.1:c.1693A>T, XM_047431381.1:c.1987A>T, XM_047431385.1:c.1942A>T, XM_047431386.1:c.1933A>T, XM_047431377.1:c.2035A>T, XM_047431379.1:c.2008A>T, XM_047431383.1:c.1963A>T, XM_047431387.1:c.1915A>T, XM_047431389.1:c.1765A>T, XM_047431393.1:c.1606A>T, XM_047431394.1:c.1606A>T, XM_047431395.1:c.1606A>T, XM_047431396.1:c.1513A>T, NP_002367.5:p.Arg669Trp, NP_001122390.2:p.Arg693Trp, NP_001122391.2:p.Arg684Trp, NP_001122392.2:p.Arg653Trp, NP_001122393.2:p.Arg599Trp, XP_005267698.2:p.Arg678Trp, XP_005267699.2:p.Arg677Trp, XP_005267700.2:p.Arg583Trp, XP_011535071.1:p.Arg613Trp, XP_016876780.1:p.Arg668Trp, XP_016876781.1:p.Arg662Trp, XP_016876783.1:p.Arg629Trp, XP_016876784.1:p.Arg620Trp, XP_016876785.1:p.Arg614Trp, XP_016876786.1:p.Arg613Trp, XP_016876790.1:p.Arg562Trp, XP_016876787.1:p.Arg605Trp, XP_016876788.1:p.Arg604Trp, XP_047287334.1:p.Arg675Trp, XP_047287336.1:p.Arg666Trp, XP_047287338.1:p.Arg660Trp, XP_047287340.1:p.Arg651Trp, XP_047287344.1:p.Arg635Trp, XP_047287346.1:p.Arg589Trp, XP_047287347.1:p.Arg567Trp, XP_047287348.1:p.Arg565Trp, XP_047287337.1:p.Arg663Trp, XP_047287341.1:p.Arg648Trp, XP_047287342.1:p.Arg645Trp, XP_047287333.1:p.Arg679Trp, XP_047287335.1:p.Arg670Trp, XP_047287339.1:p.Arg655Trp, XP_047287343.1:p.Arg639Trp, XP_047287345.1:p.Arg589Trp, XP_047287349.1:p.Arg536Trp, XP_047287350.1:p.Arg536Trp, XP_047287351.1:p.Arg536Trp, XP_047287352.1:p.Arg505Trp

                        12.

                        rs1471403296 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:103451946 (GRCh38)
                          14:103918283 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:103451945:A:G
                          Gene:
                          MARK3 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000011/3 (TOPMED)
                          G=0.000024/6 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.103451946A>G, NC_000014.8:g.103918283A>G, NG_030339.2:g.71583A>G, NM_002376.7:c.375A>G, NM_002376.6:c.375A>G, NM_002376.5:c.375A>G, NM_001128918.3:c.375A>G, NM_001128918.2:c.375A>G, NM_001128918.1:c.375A>G, NM_001128919.3:c.375A>G, NM_001128919.2:c.375A>G, NM_001128919.1:c.375A>G, NM_001128920.3:c.375A>G, NM_001128920.2:c.375A>G, NM_001128920.1:c.375A>G, NM_001128921.3:c.375A>G, NM_001128921.2:c.375A>G, NM_001128921.1:c.375A>G, NM_001411055.1:c.321A>G, NM_001411056.1:c.183A>G, XM_005267641.6:c.375A>G, XM_005267641.5:c.375A>G, XM_005267641.4:c.375A>G, XM_005267641.3:c.375A>G, XM_005267641.2:c.375A>G, XM_005267641.1:c.375A>G, XM_005267642.6:c.375A>G, XM_005267642.5:c.375A>G, XM_005267642.4:c.375A>G, XM_005267642.3:c.375A>G, XM_005267642.2:c.375A>G, XM_005267642.1:c.375A>G, XM_005267643.6:c.375A>G, XM_005267643.5:c.375A>G, XM_005267643.4:c.375A>G, XM_005267643.3:c.375A>G, XM_005267643.2:c.375A>G, XM_005267643.1:c.375A>G, XM_011536769.4:c.135A>G, XM_011536769.3:c.135A>G, XM_011536769.2:c.135A>G, XM_011536769.1:c.135A>G, XM_017021291.3:c.375A>G, XM_017021291.2:c.375A>G, XM_017021291.1:c.375A>G, XM_017021292.3:c.375A>G, XM_017021292.2:c.375A>G, XM_017021292.1:c.375A>G, XM_017021294.3:c.183A>G, XM_017021294.2:c.183A>G, XM_017021294.1:c.183A>G, XM_017021295.3:c.183A>G, XM_017021295.2:c.183A>G, XM_017021295.1:c.183A>G, XM_017021296.3:c.183A>G, XM_017021297.3:c.183A>G, XM_017021297.2:c.183A>G, XM_017021297.1:c.183A>G, XM_017021301.3:c.-19A>G, XM_017021301.2:c.-19A>G, XM_017021301.1:c.-19A>G, XM_017021298.3:c.183A>G, XM_017021298.2:c.183A>G, XM_017021298.1:c.183A>G, XM_017021299.3:c.183A>G, XM_017021299.2:c.183A>G, XM_017021299.1:c.183A>G, XM_047431378.1:c.321A>G, XM_047431380.1:c.321A>G, XM_047431382.1:c.321A>G, XM_047431384.1:c.321A>G, XM_047431388.1:c.321A>G, XM_047431390.1:c.183A>G, XM_047431391.1:c.375A>G, XM_047431392.1:c.321A>G, XM_047431381.1:c.333A>G, XM_047431385.1:c.333A>G, XM_047431386.1:c.279A>G, XM_047431377.1:c.333A>G, XM_047431379.1:c.333A>G, XM_047431383.1:c.333A>G, XM_047431387.1:c.333A>G, XM_047431389.1:c.135A>G, XM_047431393.1:c.-26A>G, XM_047431394.1:c.-26A>G

                          13.

                          rs1470781655 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:103467124 (GRCh38)
                            14:103933461 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:103467123:C:T
                            Gene:
                            MARK3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000014.9:g.103467124C>T, NC_000014.8:g.103933461C>T, NG_030339.2:g.86761C>T, NM_002376.7:c.1043C>T, NM_002376.6:c.1043C>T, NM_002376.5:c.1043C>T, NM_001128918.3:c.1043C>T, NM_001128918.2:c.1043C>T, NM_001128918.1:c.1043C>T, NM_001128919.3:c.1043C>T, NM_001128919.2:c.1043C>T, NM_001128919.1:c.1043C>T, NM_001128920.3:c.1043C>T, NM_001128920.2:c.1043C>T, NM_001128920.1:c.1043C>T, NM_001128921.3:c.806C>T, NM_001128921.2:c.806C>T, NM_001128921.1:c.806C>T, NM_001411055.1:c.989C>T, NM_001411056.1:c.851C>T, XM_005267641.6:c.1043C>T, XM_005267641.5:c.1043C>T, XM_005267641.4:c.1043C>T, XM_005267641.3:c.1043C>T, XM_005267641.2:c.1043C>T, XM_005267641.1:c.1043C>T, XM_005267642.6:c.1043C>T, XM_005267642.5:c.1043C>T, XM_005267642.4:c.1043C>T, XM_005267642.3:c.1043C>T, XM_005267642.2:c.1043C>T, XM_005267642.1:c.1043C>T, XM_005267643.6:c.1043C>T, XM_005267643.5:c.1043C>T, XM_005267643.4:c.1043C>T, XM_005267643.3:c.1043C>T, XM_005267643.2:c.1043C>T, XM_005267643.1:c.1043C>T, XM_011536769.4:c.803C>T, XM_011536769.3:c.803C>T, XM_011536769.2:c.803C>T, XM_011536769.1:c.803C>T, XM_017021291.3:c.1043C>T, XM_017021291.2:c.1043C>T, XM_017021291.1:c.1043C>T, XM_017021292.3:c.1043C>T, XM_017021292.2:c.1043C>T, XM_017021292.1:c.1043C>T, XM_017021294.3:c.851C>T, XM_017021294.2:c.851C>T, XM_017021294.1:c.851C>T, XM_017021295.3:c.851C>T, XM_017021295.2:c.851C>T, XM_017021295.1:c.851C>T, XM_017021296.3:c.851C>T, XM_017021297.3:c.851C>T, XM_017021297.2:c.851C>T, XM_017021297.1:c.851C>T, XM_017021301.3:c.650C>T, XM_017021301.2:c.650C>T, XM_017021301.1:c.650C>T, XM_017021298.3:c.851C>T, XM_017021298.2:c.851C>T, XM_017021298.1:c.851C>T, XM_017021299.3:c.851C>T, XM_017021299.2:c.851C>T, XM_017021299.1:c.851C>T, XM_047431378.1:c.989C>T, XM_047431380.1:c.989C>T, XM_047431382.1:c.989C>T, XM_047431384.1:c.989C>T, XM_047431388.1:c.989C>T, XM_047431390.1:c.851C>T, XM_047431391.1:c.1043C>T, XM_047431392.1:c.989C>T, XM_047431381.1:c.1001C>T, XM_047431385.1:c.1001C>T, XM_047431386.1:c.947C>T, XM_047431377.1:c.1001C>T, XM_047431379.1:c.1001C>T, XM_047431383.1:c.1001C>T, XM_047431387.1:c.1001C>T, XM_047431389.1:c.803C>T, XM_047431393.1:c.572C>T, XM_047431394.1:c.572C>T, XM_047431395.1:c.572C>T, XM_047431396.1:c.572C>T, NP_002367.5:p.Ser348Phe, NP_001122390.2:p.Ser348Phe, NP_001122391.2:p.Ser348Phe, NP_001122392.2:p.Ser348Phe, NP_001122393.2:p.Ser269Phe, XP_005267698.2:p.Ser348Phe, XP_005267699.2:p.Ser348Phe, XP_005267700.2:p.Ser348Phe, XP_011535071.1:p.Ser268Phe, XP_016876780.1:p.Ser348Phe, XP_016876781.1:p.Ser348Phe, XP_016876783.1:p.Ser284Phe, XP_016876784.1:p.Ser284Phe, XP_016876785.1:p.Ser284Phe, XP_016876786.1:p.Ser284Phe, XP_016876790.1:p.Ser217Phe, XP_016876787.1:p.Ser284Phe, XP_016876788.1:p.Ser284Phe, XP_047287334.1:p.Ser330Phe, XP_047287336.1:p.Ser330Phe, XP_047287338.1:p.Ser330Phe, XP_047287340.1:p.Ser330Phe, XP_047287344.1:p.Ser330Phe, XP_047287346.1:p.Ser284Phe, XP_047287347.1:p.Ser348Phe, XP_047287348.1:p.Ser330Phe, XP_047287337.1:p.Ser334Phe, XP_047287341.1:p.Ser334Phe, XP_047287342.1:p.Ser316Phe, XP_047287333.1:p.Ser334Phe, XP_047287335.1:p.Ser334Phe, XP_047287339.1:p.Ser334Phe, XP_047287343.1:p.Ser334Phe, XP_047287345.1:p.Ser268Phe, XP_047287349.1:p.Ser191Phe, XP_047287350.1:p.Ser191Phe, XP_047287351.1:p.Ser191Phe, XP_047287352.1:p.Ser191Phe

                            14.

                            rs1469581908 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TAAG>- [Show Flanks]
                              Chromosome:
                              14:103448932 (GRCh38)
                              14:103915269 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:103448928:AAGTAAG:AAG
                              Gene:
                              MARK3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AAG=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000014.9:g.103448932_103448935del, NC_000014.8:g.103915269_103915272del, NG_030339.2:g.68569_68572del, NM_002376.7:c.311_314del, NM_002376.6:c.311_314del, NM_002376.5:c.311_314del, NM_001128918.3:c.311_314del, NM_001128918.2:c.311_314del, NM_001128918.1:c.311_314del, NM_001128919.3:c.311_314del, NM_001128919.2:c.311_314del, NM_001128919.1:c.311_314del, NM_001128920.3:c.311_314del, NM_001128920.2:c.311_314del, NM_001128920.1:c.311_314del, NM_001128921.3:c.311_314del, NM_001128921.2:c.311_314del, NM_001128921.1:c.311_314del, NM_001411055.1:c.257_260del, NM_001411056.1:c.119_122del, XM_005267641.6:c.311_314del, XM_005267641.5:c.311_314del, XM_005267641.4:c.311_314del, XM_005267641.3:c.311_314del, XM_005267641.2:c.311_314del, XM_005267641.1:c.311_314del, XM_005267642.6:c.311_314del, XM_005267642.5:c.311_314del, XM_005267642.4:c.311_314del, XM_005267642.3:c.311_314del, XM_005267642.2:c.311_314del, XM_005267642.1:c.311_314del, XM_005267643.6:c.311_314del, XM_005267643.5:c.311_314del, XM_005267643.4:c.311_314del, XM_005267643.3:c.311_314del, XM_005267643.2:c.311_314del, XM_005267643.1:c.311_314del, XM_011536769.4:c.71_74del, XM_011536769.3:c.71_74del, XM_011536769.2:c.71_74del, XM_011536769.1:c.71_74del, XM_017021291.3:c.311_314del, XM_017021291.2:c.311_314del, XM_017021291.1:c.311_314del, XM_017021292.3:c.311_314del, XM_017021292.2:c.311_314del, XM_017021292.1:c.311_314del, XM_017021294.3:c.119_122del, XM_017021294.2:c.119_122del, XM_017021294.1:c.119_122del, XM_017021295.3:c.119_122del, XM_017021295.2:c.119_122del, XM_017021295.1:c.119_122del, XM_017021296.3:c.119_122del, XM_017021297.3:c.119_122del, XM_017021297.2:c.119_122del, XM_017021297.1:c.119_122del, XM_017021298.3:c.119_122del, XM_017021298.2:c.119_122del, XM_017021298.1:c.119_122del, XM_017021299.3:c.119_122del, XM_017021299.2:c.119_122del, XM_017021299.1:c.119_122del, XM_047431378.1:c.257_260del, XM_047431380.1:c.257_260del, XM_047431382.1:c.257_260del, XM_047431384.1:c.257_260del, XM_047431388.1:c.257_260del, XM_047431390.1:c.119_122del, XM_047431391.1:c.311_314del, XM_047431392.1:c.257_260del, XM_047431381.1:c.269_272del, XM_047431385.1:c.269_272del, XM_047431386.1:c.215_218del, XM_047431377.1:c.269_272del, XM_047431379.1:c.269_272del, XM_047431383.1:c.269_272del, XM_047431387.1:c.269_272del, XM_047431389.1:c.71_74del, XM_047431393.1:c.-90_-87del, NP_002367.5:p.Val104fs, NP_001122390.2:p.Val104fs, NP_001122391.2:p.Val104fs, NP_001122392.2:p.Val104fs, NP_001122393.2:p.Val104fs, XP_005267698.2:p.Val104fs, XP_005267699.2:p.Val104fs, XP_005267700.2:p.Val104fs, XP_011535071.1:p.Val24fs, XP_016876780.1:p.Val104fs, XP_016876781.1:p.Val104fs, XP_016876783.1:p.Val40fs, XP_016876784.1:p.Val40fs, XP_016876785.1:p.Val40fs, XP_016876786.1:p.Val40fs, XP_016876787.1:p.Val40fs, XP_016876788.1:p.Val40fs, XP_047287334.1:p.Val86fs, XP_047287336.1:p.Val86fs, XP_047287338.1:p.Val86fs, XP_047287340.1:p.Val86fs, XP_047287344.1:p.Val86fs, XP_047287346.1:p.Val40fs, XP_047287347.1:p.Val104fs, XP_047287348.1:p.Val86fs, XP_047287337.1:p.Val90fs, XP_047287341.1:p.Val90fs, XP_047287342.1:p.Val72fs, XP_047287333.1:p.Val90fs, XP_047287335.1:p.Val90fs, XP_047287339.1:p.Val90fs, XP_047287343.1:p.Val90fs, XP_047287345.1:p.Val24fs

                              15.

                              rs1468881067 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                14:103466354 (GRCh38)
                                14:103932691 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:103466353:G:T
                                Gene:
                                MARK3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.103466354G>T, NC_000014.8:g.103932691G>T, NG_030339.2:g.85991G>T, NM_002376.7:c.909G>T, NM_002376.6:c.909G>T, NM_002376.5:c.909G>T, NM_001128918.3:c.909G>T, NM_001128918.2:c.909G>T, NM_001128918.1:c.909G>T, NM_001128919.3:c.909G>T, NM_001128919.2:c.909G>T, NM_001128919.1:c.909G>T, NM_001128920.3:c.909G>T, NM_001128920.2:c.909G>T, NM_001128920.1:c.909G>T, NM_001128921.3:c.672G>T, NM_001128921.2:c.672G>T, NM_001128921.1:c.672G>T, NM_001411055.1:c.855G>T, NM_001411056.1:c.717G>T, XM_005267641.6:c.909G>T, XM_005267641.5:c.909G>T, XM_005267641.4:c.909G>T, XM_005267641.3:c.909G>T, XM_005267641.2:c.909G>T, XM_005267641.1:c.909G>T, XM_005267642.6:c.909G>T, XM_005267642.5:c.909G>T, XM_005267642.4:c.909G>T, XM_005267642.3:c.909G>T, XM_005267642.2:c.909G>T, XM_005267642.1:c.909G>T, XM_005267643.6:c.909G>T, XM_005267643.5:c.909G>T, XM_005267643.4:c.909G>T, XM_005267643.3:c.909G>T, XM_005267643.2:c.909G>T, XM_005267643.1:c.909G>T, XM_011536769.4:c.669G>T, XM_011536769.3:c.669G>T, XM_011536769.2:c.669G>T, XM_011536769.1:c.669G>T, XM_017021291.3:c.909G>T, XM_017021291.2:c.909G>T, XM_017021291.1:c.909G>T, XM_017021292.3:c.909G>T, XM_017021292.2:c.909G>T, XM_017021292.1:c.909G>T, XM_017021294.3:c.717G>T, XM_017021294.2:c.717G>T, XM_017021294.1:c.717G>T, XM_017021295.3:c.717G>T, XM_017021295.2:c.717G>T, XM_017021295.1:c.717G>T, XM_017021296.3:c.717G>T, XM_017021297.3:c.717G>T, XM_017021297.2:c.717G>T, XM_017021297.1:c.717G>T, XM_017021301.3:c.516G>T, XM_017021301.2:c.516G>T, XM_017021301.1:c.516G>T, XM_017021298.3:c.717G>T, XM_017021298.2:c.717G>T, XM_017021298.1:c.717G>T, XM_017021299.3:c.717G>T, XM_017021299.2:c.717G>T, XM_017021299.1:c.717G>T, XM_047431378.1:c.855G>T, XM_047431380.1:c.855G>T, XM_047431382.1:c.855G>T, XM_047431384.1:c.855G>T, XM_047431388.1:c.855G>T, XM_047431390.1:c.717G>T, XM_047431391.1:c.909G>T, XM_047431392.1:c.855G>T, XM_047431381.1:c.867G>T, XM_047431385.1:c.867G>T, XM_047431386.1:c.813G>T, XM_047431377.1:c.867G>T, XM_047431379.1:c.867G>T, XM_047431383.1:c.867G>T, XM_047431387.1:c.867G>T, XM_047431389.1:c.669G>T, XM_047431393.1:c.438G>T, XM_047431394.1:c.438G>T, XM_047431395.1:c.438G>T, XM_047431396.1:c.438G>T, NP_002367.5:p.Lys303Asn, NP_001122390.2:p.Lys303Asn, NP_001122391.2:p.Lys303Asn, NP_001122392.2:p.Lys303Asn, NP_001122393.2:p.Lys224Asn, XP_005267698.2:p.Lys303Asn, XP_005267699.2:p.Lys303Asn, XP_005267700.2:p.Lys303Asn, XP_011535071.1:p.Lys223Asn, XP_016876780.1:p.Lys303Asn, XP_016876781.1:p.Lys303Asn, XP_016876783.1:p.Lys239Asn, XP_016876784.1:p.Lys239Asn, XP_016876785.1:p.Lys239Asn, XP_016876786.1:p.Lys239Asn, XP_016876790.1:p.Lys172Asn, XP_016876787.1:p.Lys239Asn, XP_016876788.1:p.Lys239Asn, XP_047287334.1:p.Lys285Asn, XP_047287336.1:p.Lys285Asn, XP_047287338.1:p.Lys285Asn, XP_047287340.1:p.Lys285Asn, XP_047287344.1:p.Lys285Asn, XP_047287346.1:p.Lys239Asn, XP_047287347.1:p.Lys303Asn, XP_047287348.1:p.Lys285Asn, XP_047287337.1:p.Lys289Asn, XP_047287341.1:p.Lys289Asn, XP_047287342.1:p.Lys271Asn, XP_047287333.1:p.Lys289Asn, XP_047287335.1:p.Lys289Asn, XP_047287339.1:p.Lys289Asn, XP_047287343.1:p.Lys289Asn, XP_047287345.1:p.Lys223Asn, XP_047287349.1:p.Lys146Asn, XP_047287350.1:p.Lys146Asn, XP_047287351.1:p.Lys146Asn, XP_047287352.1:p.Lys146Asn

                                16.

                                rs1468871680 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  14:103475071 (GRCh38)
                                  14:103941408 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:103475070:A:T
                                  Gene:
                                  MARK3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000014.9:g.103475071A>T, NC_000014.8:g.103941408A>T, NG_030339.2:g.94708A>T, NM_002376.7:c.1343A>T, NM_002376.6:c.1343A>T, NM_002376.5:c.1343A>T, NM_001128918.3:c.1343A>T, NM_001128918.2:c.1343A>T, NM_001128918.1:c.1343A>T, NM_001128919.3:c.1343A>T, NM_001128919.2:c.1343A>T, NM_001128919.1:c.1343A>T, NM_001128920.3:c.1295A>T, NM_001128920.2:c.1295A>T, NM_001128920.1:c.1295A>T, NM_001128921.3:c.1106A>T, NM_001128921.2:c.1106A>T, NM_001128921.1:c.1106A>T, NM_001411055.1:c.1289A>T, NM_001411056.1:c.1151A>T, XM_005267641.6:c.1343A>T, XM_005267641.5:c.1343A>T, XM_005267641.4:c.1343A>T, XM_005267641.3:c.1343A>T, XM_005267641.2:c.1343A>T, XM_005267641.1:c.1343A>T, XM_005267642.6:c.1295A>T, XM_005267642.5:c.1295A>T, XM_005267642.4:c.1295A>T, XM_005267642.3:c.1295A>T, XM_005267642.2:c.1295A>T, XM_005267642.1:c.1295A>T, XM_005267643.6:c.1343A>T, XM_005267643.5:c.1343A>T, XM_005267643.4:c.1343A>T, XM_005267643.3:c.1343A>T, XM_005267643.2:c.1343A>T, XM_005267643.1:c.1343A>T, XM_011536769.4:c.1103A>T, XM_011536769.3:c.1103A>T, XM_011536769.2:c.1103A>T, XM_011536769.1:c.1103A>T, XM_017021291.3:c.1295A>T, XM_017021291.2:c.1295A>T, XM_017021291.1:c.1295A>T, XM_017021292.3:c.1295A>T, XM_017021292.2:c.1295A>T, XM_017021292.1:c.1295A>T, XM_017021294.3:c.1151A>T, XM_017021294.2:c.1151A>T, XM_017021294.1:c.1151A>T, XM_017021295.3:c.1151A>T, XM_017021295.2:c.1151A>T, XM_017021295.1:c.1151A>T, XM_017021296.3:c.1151A>T, XM_017021297.3:c.1103A>T, XM_017021297.2:c.1103A>T, XM_017021297.1:c.1103A>T, XM_017021301.3:c.950A>T, XM_017021301.2:c.950A>T, XM_017021301.1:c.950A>T, XM_017021298.3:c.1151A>T, XM_017021298.2:c.1151A>T, XM_017021298.1:c.1151A>T, XM_017021299.3:c.1103A>T, XM_017021299.2:c.1103A>T, XM_017021299.1:c.1103A>T, XM_047431378.1:c.1289A>T, XM_047431380.1:c.1289A>T, XM_047431382.1:c.1289A>T, XM_047431384.1:c.1289A>T, XM_047431388.1:c.1241A>T, XM_047431390.1:c.1103A>T, XM_047431391.1:c.1295A>T, XM_047431392.1:c.1289A>T, XM_047431381.1:c.1253A>T, XM_047431385.1:c.1253A>T, XM_047431386.1:c.1199A>T, XM_047431377.1:c.1301A>T, XM_047431379.1:c.1301A>T, XM_047431383.1:c.1301A>T, XM_047431387.1:c.1253A>T, XM_047431389.1:c.1103A>T, XM_047431393.1:c.872A>T, XM_047431394.1:c.872A>T, XM_047431395.1:c.872A>T, XM_047431396.1:c.824A>T, NP_002367.5:p.Asp448Val, NP_001122390.2:p.Asp448Val, NP_001122391.2:p.Asp448Val, NP_001122392.2:p.Asp432Val, NP_001122393.2:p.Asp369Val, XP_005267698.2:p.Asp448Val, XP_005267699.2:p.Asp432Val, XP_005267700.2:p.Asp448Val, XP_011535071.1:p.Asp368Val, XP_016876780.1:p.Asp432Val, XP_016876781.1:p.Asp432Val, XP_016876783.1:p.Asp384Val, XP_016876784.1:p.Asp384Val, XP_016876785.1:p.Asp384Val, XP_016876786.1:p.Asp368Val, XP_016876790.1:p.Asp317Val, XP_016876787.1:p.Asp384Val, XP_016876788.1:p.Asp368Val, XP_047287334.1:p.Asp430Val, XP_047287336.1:p.Asp430Val, XP_047287338.1:p.Asp430Val, XP_047287340.1:p.Asp430Val, XP_047287344.1:p.Asp414Val, XP_047287346.1:p.Asp368Val, XP_047287347.1:p.Asp432Val, XP_047287348.1:p.Asp430Val, XP_047287337.1:p.Asp418Val, XP_047287341.1:p.Asp418Val, XP_047287342.1:p.Asp400Val, XP_047287333.1:p.Asp434Val, XP_047287335.1:p.Asp434Val, XP_047287339.1:p.Asp434Val, XP_047287343.1:p.Asp418Val, XP_047287345.1:p.Asp368Val, XP_047287349.1:p.Asp291Val, XP_047287350.1:p.Asp291Val, XP_047287351.1:p.Asp291Val, XP_047287352.1:p.Asp275Val

                                  17.

                                  rs1468637579 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    14:103475017 (GRCh38)
                                    14:103941354 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:103475016:T:C
                                    Gene:
                                    MARK3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.103475017T>C, NC_000014.8:g.103941354T>C, NG_030339.2:g.94654T>C, NM_002376.7:c.1289T>C, NM_002376.6:c.1289T>C, NM_002376.5:c.1289T>C, NM_001128918.3:c.1289T>C, NM_001128918.2:c.1289T>C, NM_001128918.1:c.1289T>C, NM_001128919.3:c.1289T>C, NM_001128919.2:c.1289T>C, NM_001128919.1:c.1289T>C, NM_001128920.3:c.1241T>C, NM_001128920.2:c.1241T>C, NM_001128920.1:c.1241T>C, NM_001128921.3:c.1052T>C, NM_001128921.2:c.1052T>C, NM_001128921.1:c.1052T>C, NM_001411055.1:c.1235T>C, NM_001411056.1:c.1097T>C, XM_005267641.6:c.1289T>C, XM_005267641.5:c.1289T>C, XM_005267641.4:c.1289T>C, XM_005267641.3:c.1289T>C, XM_005267641.2:c.1289T>C, XM_005267641.1:c.1289T>C, XM_005267642.6:c.1241T>C, XM_005267642.5:c.1241T>C, XM_005267642.4:c.1241T>C, XM_005267642.3:c.1241T>C, XM_005267642.2:c.1241T>C, XM_005267642.1:c.1241T>C, XM_005267643.6:c.1289T>C, XM_005267643.5:c.1289T>C, XM_005267643.4:c.1289T>C, XM_005267643.3:c.1289T>C, XM_005267643.2:c.1289T>C, XM_005267643.1:c.1289T>C, XM_011536769.4:c.1049T>C, XM_011536769.3:c.1049T>C, XM_011536769.2:c.1049T>C, XM_011536769.1:c.1049T>C, XM_017021291.3:c.1241T>C, XM_017021291.2:c.1241T>C, XM_017021291.1:c.1241T>C, XM_017021292.3:c.1241T>C, XM_017021292.2:c.1241T>C, XM_017021292.1:c.1241T>C, XM_017021294.3:c.1097T>C, XM_017021294.2:c.1097T>C, XM_017021294.1:c.1097T>C, XM_017021295.3:c.1097T>C, XM_017021295.2:c.1097T>C, XM_017021295.1:c.1097T>C, XM_017021296.3:c.1097T>C, XM_017021297.3:c.1049T>C, XM_017021297.2:c.1049T>C, XM_017021297.1:c.1049T>C, XM_017021301.3:c.896T>C, XM_017021301.2:c.896T>C, XM_017021301.1:c.896T>C, XM_017021298.3:c.1097T>C, XM_017021298.2:c.1097T>C, XM_017021298.1:c.1097T>C, XM_017021299.3:c.1049T>C, XM_017021299.2:c.1049T>C, XM_017021299.1:c.1049T>C, XM_047431378.1:c.1235T>C, XM_047431380.1:c.1235T>C, XM_047431382.1:c.1235T>C, XM_047431384.1:c.1235T>C, XM_047431388.1:c.1187T>C, XM_047431390.1:c.1049T>C, XM_047431391.1:c.1241T>C, XM_047431392.1:c.1235T>C, XM_047431381.1:c.1199T>C, XM_047431385.1:c.1199T>C, XM_047431386.1:c.1145T>C, XM_047431377.1:c.1247T>C, XM_047431379.1:c.1247T>C, XM_047431383.1:c.1247T>C, XM_047431387.1:c.1199T>C, XM_047431389.1:c.1049T>C, XM_047431393.1:c.818T>C, XM_047431394.1:c.818T>C, XM_047431395.1:c.818T>C, XM_047431396.1:c.770T>C, NP_002367.5:p.Val430Ala, NP_001122390.2:p.Val430Ala, NP_001122391.2:p.Val430Ala, NP_001122392.2:p.Val414Ala, NP_001122393.2:p.Val351Ala, XP_005267698.2:p.Val430Ala, XP_005267699.2:p.Val414Ala, XP_005267700.2:p.Val430Ala, XP_011535071.1:p.Val350Ala, XP_016876780.1:p.Val414Ala, XP_016876781.1:p.Val414Ala, XP_016876783.1:p.Val366Ala, XP_016876784.1:p.Val366Ala, XP_016876785.1:p.Val366Ala, XP_016876786.1:p.Val350Ala, XP_016876790.1:p.Val299Ala, XP_016876787.1:p.Val366Ala, XP_016876788.1:p.Val350Ala, XP_047287334.1:p.Val412Ala, XP_047287336.1:p.Val412Ala, XP_047287338.1:p.Val412Ala, XP_047287340.1:p.Val412Ala, XP_047287344.1:p.Val396Ala, XP_047287346.1:p.Val350Ala, XP_047287347.1:p.Val414Ala, XP_047287348.1:p.Val412Ala, XP_047287337.1:p.Val400Ala, XP_047287341.1:p.Val400Ala, XP_047287342.1:p.Val382Ala, XP_047287333.1:p.Val416Ala, XP_047287335.1:p.Val416Ala, XP_047287339.1:p.Val416Ala, XP_047287343.1:p.Val400Ala, XP_047287345.1:p.Val350Ala, XP_047287349.1:p.Val273Ala, XP_047287350.1:p.Val273Ala, XP_047287351.1:p.Val273Ala, XP_047287352.1:p.Val257Ala

                                    18.

                                    rs1468567180 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:103468176 (GRCh38)
                                      14:103934513 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:103468175:C:T
                                      Gene:
                                      MARK3 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.103468176C>T, NC_000014.8:g.103934513C>T, NG_030339.2:g.87813C>T, NM_002376.7:c.1254C>T, NM_002376.6:c.1254C>T, NM_002376.5:c.1254C>T, NM_001128918.3:c.1254C>T, NM_001128918.2:c.1254C>T, NM_001128918.1:c.1254C>T, NM_001128919.3:c.1254C>T, NM_001128919.2:c.1254C>T, NM_001128919.1:c.1254C>T, NM_001128920.3:c.1206C>T, NM_001128920.2:c.1206C>T, NM_001128920.1:c.1206C>T, NM_001128921.3:c.1017C>T, NM_001128921.2:c.1017C>T, NM_001128921.1:c.1017C>T, NM_001411055.1:c.1200C>T, NM_001411056.1:c.1062C>T, XM_005267641.6:c.1254C>T, XM_005267641.5:c.1254C>T, XM_005267641.4:c.1254C>T, XM_005267641.3:c.1254C>T, XM_005267641.2:c.1254C>T, XM_005267641.1:c.1254C>T, XM_005267642.6:c.1206C>T, XM_005267642.5:c.1206C>T, XM_005267642.4:c.1206C>T, XM_005267642.3:c.1206C>T, XM_005267642.2:c.1206C>T, XM_005267642.1:c.1206C>T, XM_005267643.6:c.1254C>T, XM_005267643.5:c.1254C>T, XM_005267643.4:c.1254C>T, XM_005267643.3:c.1254C>T, XM_005267643.2:c.1254C>T, XM_005267643.1:c.1254C>T, XM_011536769.4:c.1014C>T, XM_011536769.3:c.1014C>T, XM_011536769.2:c.1014C>T, XM_011536769.1:c.1014C>T, XM_017021291.3:c.1206C>T, XM_017021291.2:c.1206C>T, XM_017021291.1:c.1206C>T, XM_017021292.3:c.1206C>T, XM_017021292.2:c.1206C>T, XM_017021292.1:c.1206C>T, XM_017021294.3:c.1062C>T, XM_017021294.2:c.1062C>T, XM_017021294.1:c.1062C>T, XM_017021295.3:c.1062C>T, XM_017021295.2:c.1062C>T, XM_017021295.1:c.1062C>T, XM_017021296.3:c.1062C>T, XM_017021297.3:c.1014C>T, XM_017021297.2:c.1014C>T, XM_017021297.1:c.1014C>T, XM_017021301.3:c.861C>T, XM_017021301.2:c.861C>T, XM_017021301.1:c.861C>T, XM_017021298.3:c.1062C>T, XM_017021298.2:c.1062C>T, XM_017021298.1:c.1062C>T, XM_017021299.3:c.1014C>T, XM_017021299.2:c.1014C>T, XM_017021299.1:c.1014C>T, XM_047431378.1:c.1200C>T, XM_047431380.1:c.1200C>T, XM_047431382.1:c.1200C>T, XM_047431384.1:c.1200C>T, XM_047431388.1:c.1152C>T, XM_047431390.1:c.1014C>T, XM_047431391.1:c.1206C>T, XM_047431392.1:c.1200C>T, XM_047431381.1:c.1164C>T, XM_047431385.1:c.1164C>T, XM_047431386.1:c.1110C>T, XM_047431377.1:c.1212C>T, XM_047431379.1:c.1212C>T, XM_047431383.1:c.1212C>T, XM_047431387.1:c.1164C>T, XM_047431389.1:c.1014C>T, XM_047431393.1:c.783C>T, XM_047431394.1:c.783C>T, XM_047431395.1:c.783C>T, XM_047431396.1:c.735C>T

                                      19.

                                      rs1467195253 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        14:103480403 (GRCh38)
                                        14:103946740 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:103480402:G:T
                                        Gene:
                                        MARK3 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.103480403G>T, NC_000014.8:g.103946740G>T, NG_030339.2:g.100040G>T, NM_002376.7:c.1499G>T, NM_002376.6:c.1499G>T, NM_002376.5:c.1499G>T, NM_001128918.3:c.1499G>T, NM_001128918.2:c.1499G>T, NM_001128918.1:c.1499G>T, NM_001128919.3:c.1499G>T, NM_001128919.2:c.1499G>T, NM_001128919.1:c.1499G>T, NM_001128920.3:c.1451G>T, NM_001128920.2:c.1451G>T, NM_001128920.1:c.1451G>T, NM_001128921.3:c.1262G>T, NM_001128921.2:c.1262G>T, NM_001128921.1:c.1262G>T, NM_001411055.1:c.1445G>T, NM_001411056.1:c.1307G>T, XM_005267641.6:c.1499G>T, XM_005267641.5:c.1499G>T, XM_005267641.4:c.1499G>T, XM_005267641.3:c.1499G>T, XM_005267641.2:c.1499G>T, XM_005267641.1:c.1499G>T, XM_005267642.6:c.1451G>T, XM_005267642.5:c.1451G>T, XM_005267642.4:c.1451G>T, XM_005267642.3:c.1451G>T, XM_005267642.2:c.1451G>T, XM_005267642.1:c.1451G>T, XM_005267643.6:c.1499G>T, XM_005267643.5:c.1499G>T, XM_005267643.4:c.1499G>T, XM_005267643.3:c.1499G>T, XM_005267643.2:c.1499G>T, XM_005267643.1:c.1499G>T, XM_011536769.4:c.1259G>T, XM_011536769.3:c.1259G>T, XM_011536769.2:c.1259G>T, XM_011536769.1:c.1259G>T, XM_017021291.3:c.1451G>T, XM_017021291.2:c.1451G>T, XM_017021291.1:c.1451G>T, XM_017021292.3:c.1451G>T, XM_017021292.2:c.1451G>T, XM_017021292.1:c.1451G>T, XM_017021294.3:c.1307G>T, XM_017021294.2:c.1307G>T, XM_017021294.1:c.1307G>T, XM_017021295.3:c.1307G>T, XM_017021295.2:c.1307G>T, XM_017021295.1:c.1307G>T, XM_017021296.3:c.1307G>T, XM_017021297.3:c.1259G>T, XM_017021297.2:c.1259G>T, XM_017021297.1:c.1259G>T, XM_017021301.3:c.1106G>T, XM_017021301.2:c.1106G>T, XM_017021301.1:c.1106G>T, XM_017021298.3:c.1307G>T, XM_017021298.2:c.1307G>T, XM_017021298.1:c.1307G>T, XM_017021299.3:c.1259G>T, XM_017021299.2:c.1259G>T, XM_017021299.1:c.1259G>T, XM_047431378.1:c.1445G>T, XM_047431380.1:c.1445G>T, XM_047431382.1:c.1445G>T, XM_047431384.1:c.1445G>T, XM_047431388.1:c.1397G>T, XM_047431390.1:c.1259G>T, XM_047431391.1:c.1451G>T, XM_047431392.1:c.1445G>T, XM_047431381.1:c.1409G>T, XM_047431385.1:c.1409G>T, XM_047431386.1:c.1355G>T, XM_047431377.1:c.1457G>T, XM_047431379.1:c.1457G>T, XM_047431383.1:c.1457G>T, XM_047431387.1:c.1409G>T, XM_047431389.1:c.1259G>T, XM_047431393.1:c.1028G>T, XM_047431394.1:c.1028G>T, XM_047431395.1:c.1028G>T, XM_047431396.1:c.980G>T, NP_002367.5:p.Gly500Val, NP_001122390.2:p.Gly500Val, NP_001122391.2:p.Gly500Val, NP_001122392.2:p.Gly484Val, NP_001122393.2:p.Gly421Val, XP_005267698.2:p.Gly500Val, XP_005267699.2:p.Gly484Val, XP_005267700.2:p.Gly500Val, XP_011535071.1:p.Gly420Val, XP_016876780.1:p.Gly484Val, XP_016876781.1:p.Gly484Val, XP_016876783.1:p.Gly436Val, XP_016876784.1:p.Gly436Val, XP_016876785.1:p.Gly436Val, XP_016876786.1:p.Gly420Val, XP_016876790.1:p.Gly369Val, XP_016876787.1:p.Gly436Val, XP_016876788.1:p.Gly420Val, XP_047287334.1:p.Gly482Val, XP_047287336.1:p.Gly482Val, XP_047287338.1:p.Gly482Val, XP_047287340.1:p.Gly482Val, XP_047287344.1:p.Gly466Val, XP_047287346.1:p.Gly420Val, XP_047287347.1:p.Gly484Val, XP_047287348.1:p.Gly482Val, XP_047287337.1:p.Gly470Val, XP_047287341.1:p.Gly470Val, XP_047287342.1:p.Gly452Val, XP_047287333.1:p.Gly486Val, XP_047287335.1:p.Gly486Val, XP_047287339.1:p.Gly486Val, XP_047287343.1:p.Gly470Val, XP_047287345.1:p.Gly420Val, XP_047287349.1:p.Gly343Val, XP_047287350.1:p.Gly343Val, XP_047287351.1:p.Gly343Val, XP_047287352.1:p.Gly327Val

                                        20.

                                        rs1467013989 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:103467144 (GRCh38)
                                          14:103933481 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:103467143:G:A
                                          Gene:
                                          MARK3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_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_000014.9:g.103467144G>A, NC_000014.8:g.103933481G>A, NG_030339.2:g.86781G>A, NM_002376.7:c.1063G>A, NM_002376.6:c.1063G>A, NM_002376.5:c.1063G>A, NM_001128918.3:c.1063G>A, NM_001128918.2:c.1063G>A, NM_001128918.1:c.1063G>A, NM_001128919.3:c.1063G>A, NM_001128919.2:c.1063G>A, NM_001128919.1:c.1063G>A, NM_001128920.3:c.1063G>A, NM_001128920.2:c.1063G>A, NM_001128920.1:c.1063G>A, NM_001128921.3:c.826G>A, NM_001128921.2:c.826G>A, NM_001128921.1:c.826G>A, NM_001411055.1:c.1009G>A, NM_001411056.1:c.871G>A, XM_005267641.6:c.1063G>A, XM_005267641.5:c.1063G>A, XM_005267641.4:c.1063G>A, XM_005267641.3:c.1063G>A, XM_005267641.2:c.1063G>A, XM_005267641.1:c.1063G>A, XM_005267642.6:c.1063G>A, XM_005267642.5:c.1063G>A, XM_005267642.4:c.1063G>A, XM_005267642.3:c.1063G>A, XM_005267642.2:c.1063G>A, XM_005267642.1:c.1063G>A, XM_005267643.6:c.1063G>A, XM_005267643.5:c.1063G>A, XM_005267643.4:c.1063G>A, XM_005267643.3:c.1063G>A, XM_005267643.2:c.1063G>A, XM_005267643.1:c.1063G>A, XM_011536769.4:c.823G>A, XM_011536769.3:c.823G>A, XM_011536769.2:c.823G>A, XM_011536769.1:c.823G>A, XM_017021291.3:c.1063G>A, XM_017021291.2:c.1063G>A, XM_017021291.1:c.1063G>A, XM_017021292.3:c.1063G>A, XM_017021292.2:c.1063G>A, XM_017021292.1:c.1063G>A, XM_017021294.3:c.871G>A, XM_017021294.2:c.871G>A, XM_017021294.1:c.871G>A, XM_017021295.3:c.871G>A, XM_017021295.2:c.871G>A, XM_017021295.1:c.871G>A, XM_017021296.3:c.871G>A, XM_017021297.3:c.871G>A, XM_017021297.2:c.871G>A, XM_017021297.1:c.871G>A, XM_017021301.3:c.670G>A, XM_017021301.2:c.670G>A, XM_017021301.1:c.670G>A, XM_017021298.3:c.871G>A, XM_017021298.2:c.871G>A, XM_017021298.1:c.871G>A, XM_017021299.3:c.871G>A, XM_017021299.2:c.871G>A, XM_017021299.1:c.871G>A, XM_047431378.1:c.1009G>A, XM_047431380.1:c.1009G>A, XM_047431382.1:c.1009G>A, XM_047431384.1:c.1009G>A, XM_047431388.1:c.1009G>A, XM_047431390.1:c.871G>A, XM_047431391.1:c.1063G>A, XM_047431392.1:c.1009G>A, XM_047431381.1:c.1021G>A, XM_047431385.1:c.1021G>A, XM_047431386.1:c.967G>A, XM_047431377.1:c.1021G>A, XM_047431379.1:c.1021G>A, XM_047431383.1:c.1021G>A, XM_047431387.1:c.1021G>A, XM_047431389.1:c.823G>A, XM_047431393.1:c.592G>A, XM_047431394.1:c.592G>A, XM_047431395.1:c.592G>A, XM_047431396.1:c.592G>A, NP_002367.5:p.Asp355Asn, NP_001122390.2:p.Asp355Asn, NP_001122391.2:p.Asp355Asn, NP_001122392.2:p.Asp355Asn, NP_001122393.2:p.Asp276Asn, XP_005267698.2:p.Asp355Asn, XP_005267699.2:p.Asp355Asn, XP_005267700.2:p.Asp355Asn, XP_011535071.1:p.Asp275Asn, XP_016876780.1:p.Asp355Asn, XP_016876781.1:p.Asp355Asn, XP_016876783.1:p.Asp291Asn, XP_016876784.1:p.Asp291Asn, XP_016876785.1:p.Asp291Asn, XP_016876786.1:p.Asp291Asn, XP_016876790.1:p.Asp224Asn, XP_016876787.1:p.Asp291Asn, XP_016876788.1:p.Asp291Asn, XP_047287334.1:p.Asp337Asn, XP_047287336.1:p.Asp337Asn, XP_047287338.1:p.Asp337Asn, XP_047287340.1:p.Asp337Asn, XP_047287344.1:p.Asp337Asn, XP_047287346.1:p.Asp291Asn, XP_047287347.1:p.Asp355Asn, XP_047287348.1:p.Asp337Asn, XP_047287337.1:p.Asp341Asn, XP_047287341.1:p.Asp341Asn, XP_047287342.1:p.Asp323Asn, XP_047287333.1:p.Asp341Asn, XP_047287335.1:p.Asp341Asn, XP_047287339.1:p.Asp341Asn, XP_047287343.1:p.Asp341Asn, XP_047287345.1:p.Asp275Asn, XP_047287349.1:p.Asp198Asn, XP_047287350.1:p.Asp198Asn, XP_047287351.1:p.Asp198Asn, XP_047287352.1:p.Asp198Asn

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