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Items: 1 to 20 of 636

1.

rs1489264417 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    18:49272287 (GRCh38)
    18:46798657 (GRCh37)
    Canonical SPDI:
    NC_000018.10:49272286:T:C
    Gene:
    DYM (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    HGVS:
    NC_000018.10:g.49272287T>C, NC_000018.9:g.46798657T>C, NG_009239.2:g.193447A>G, NM_017653.6:c.1142A>G, NM_017653.5:c.1142A>G, NM_017653.4:c.1142A>G, NM_017653.3:c.1142A>G, NM_001353214.3:c.1142A>G, NM_001353214.2:c.1142A>G, NM_001353214.1:c.1142A>G, NM_001353213.3:c.1139A>G, NM_001353213.2:c.1139A>G, NM_001353213.1:c.1139A>G, NM_001353212.3:c.1139A>G, NM_001353212.2:c.1139A>G, NM_001353212.1:c.1139A>G, NM_001353211.3:c.1139A>G, NM_001353211.2:c.1139A>G, NM_001353211.1:c.1139A>G, NM_001353210.3:c.1139A>G, NM_001353210.2:c.1139A>G, NM_001353210.1:c.1139A>G, NM_001353215.3:c.1142A>G, NM_001353215.2:c.1142A>G, NM_001353215.1:c.1142A>G, NM_001353216.3:c.1142A>G, NM_001353216.2:c.1142A>G, NM_001353216.1:c.1142A>G, NM_001374428.1:c.1142A>G, NM_001374430.1:c.1142A>G, NM_001374429.1:c.1136A>G, NM_001374433.1:c.1142A>G, NM_001374431.1:c.1142A>G, NM_001374432.1:c.1016A>G, NM_001374434.1:c.1142A>G, NM_001374435.1:c.1139A>G, NM_001374436.1:c.1016A>G, NM_001374437.1:c.959A>G, NM_001374438.1:c.1139A>G, NM_001374439.1:c.1136A>G, NM_001374440.1:c.914A>G, NM_001374441.1:c.572A>G, NM_001374442.1:c.572A>G, NM_001374443.1:c.569A>G, NM_001374444.1:c.572A>G, XM_006722492.5:c.1142A>G, XM_006722492.4:c.1142A>G, XM_006722492.3:c.1142A>G, XM_006722492.2:c.1142A>G, XM_006722492.1:c.1142A>G, XM_011526036.3:c.1142A>G, XM_011526036.2:c.1142A>G, XM_011526036.1:c.1142A>G, XM_011526038.3:c.1139A>G, XM_011526038.2:c.1139A>G, XM_011526038.1:c.1139A>G, XM_011526041.3:c.1142A>G, XM_011526041.2:c.1142A>G, XM_011526041.1:c.1142A>G, XM_011526042.3:c.1142A>G, XM_011526042.2:c.1142A>G, XM_011526042.1:c.1142A>G, XM_011526039.3:c.1142A>G, XM_011526039.2:c.1142A>G, XM_011526039.1:c.1142A>G, XM_011526037.2:c.1139A>G, XM_011526037.1:c.1139A>G, XM_017025795.2:c.1136A>G, XM_017025795.1:c.1136A>G, XM_047437555.1:c.1139A>G, XM_047437554.1:c.1139A>G, XM_047437553.1:c.1136A>G, XM_047437558.1:c.1142A>G, XM_047437559.1:c.1136A>G, XM_047437556.1:c.1139A>G, XM_047437560.1:c.1142A>G, XM_047437557.1:c.1142A>G, NP_060123.3:p.Glu381Gly, NP_001340143.1:p.Glu381Gly, NP_001340142.1:p.Glu380Gly, NP_001340141.1:p.Glu380Gly, NP_001340140.1:p.Glu380Gly, NP_001340139.1:p.Glu380Gly, NP_001340144.1:p.Glu381Gly, NP_001340145.1:p.Glu381Gly, NP_001361357.1:p.Glu381Gly, NP_001361359.1:p.Glu381Gly, NP_001361358.1:p.Glu379Gly, NP_001361362.1:p.Glu381Gly, NP_001361360.1:p.Glu381Gly, NP_001361361.1:p.Glu339Gly, NP_001361363.1:p.Glu381Gly, NP_001361364.1:p.Glu380Gly, NP_001361365.1:p.Glu339Gly, NP_001361366.1:p.Glu320Gly, NP_001361367.1:p.Glu380Gly, NP_001361368.1:p.Glu379Gly, NP_001361369.1:p.Glu305Gly, NP_001361370.1:p.Glu191Gly, NP_001361371.1:p.Glu191Gly, NP_001361372.1:p.Glu190Gly, NP_001361373.1:p.Glu191Gly, XP_006722555.1:p.Glu381Gly, XP_011524338.1:p.Glu381Gly, XP_011524340.1:p.Glu380Gly, XP_011524343.1:p.Glu381Gly, XP_011524344.1:p.Glu381Gly, XP_011524341.1:p.Glu381Gly, XP_011524339.1:p.Glu380Gly, XP_016881284.1:p.Glu379Gly, XP_047293511.1:p.Glu380Gly, XP_047293510.1:p.Glu380Gly, XP_047293509.1:p.Glu379Gly, XP_047293514.1:p.Glu381Gly, XP_047293515.1:p.Glu379Gly, XP_047293512.1:p.Glu380Gly, XP_047293516.1:p.Glu381Gly, XP_047293513.1:p.Glu381Gly

    2.

    rs1488866469 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      18:49044099 (GRCh38)
      18:46570469 (GRCh37)
      Canonical SPDI:
      NC_000018.10:49044098:A:G
      Gene:
      DYM (Varview), DYM-AS1 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000018.10:g.49044099A>G, NC_000018.9:g.46570469A>G, NG_009239.2:g.421635T>C, NM_017653.6:c.1966T>C, NM_017653.5:c.1966T>C, NM_017653.4:c.1966T>C, NM_017653.3:c.1966T>C, NM_001353214.3:c.2131T>C, NM_001353214.2:c.2131T>C, NM_001353214.1:c.2131T>C, NM_001353213.3:c.2128T>C, NM_001353213.2:c.2128T>C, NM_001353213.1:c.2128T>C, NM_001353212.3:c.2128T>C, NM_001353212.2:c.2128T>C, NM_001353212.1:c.2128T>C, NM_001353211.3:c.1963T>C, NM_001353211.2:c.1963T>C, NM_001353211.1:c.1963T>C, NM_001353210.3:c.1963T>C, NM_001353210.2:c.1963T>C, NM_001353210.1:c.1963T>C, NM_001353215.3:c.1948T>C, NM_001353215.2:c.1948T>C, NM_001353215.1:c.1948T>C, NM_001353216.3:c.1783T>C, NM_001353216.2:c.1783T>C, NM_001353216.1:c.1783T>C, NM_001374428.1:c.2131T>C, NM_001374430.1:c.*90T>C, NM_001374429.1:c.2125T>C, NM_001374433.1:c.*90T>C, NM_001374431.1:c.2017T>C, NM_001374432.1:c.2005T>C, NM_001374434.1:c.1852T>C, NM_001374435.1:c.1849T>C, NM_001374436.1:c.1840T>C, NM_001374437.1:c.1783T>C, NM_001374438.1:c.1780T>C, NM_001374439.1:c.1777T>C, NM_001374440.1:c.1738T>C, NM_001374441.1:c.1561T>C, NM_001374442.1:c.1396T>C, NM_001374443.1:c.1393T>C, NM_001374444.1:c.1213T>C, XM_011526036.3:c.2084T>C, XM_011526036.2:c.2084T>C, XM_011526036.1:c.2084T>C, XM_011526038.3:c.2081T>C, XM_011526038.2:c.2081T>C, XM_011526038.1:c.2081T>C, XM_011526041.3:c.1901T>C, XM_011526041.2:c.1901T>C, XM_011526041.1:c.1901T>C, XM_011526037.2:c.2081T>C, XM_011526037.1:c.2081T>C, XM_017025795.2:c.2078T>C, XM_017025795.1:c.2078T>C, XM_047437555.1:c.*90T>C, XM_047437554.1:c.*90T>C, XM_047437553.1:c.1960T>C, XM_047437558.1:c.*90T>C, XM_047437559.1:c.*90T>C, XM_047437556.1:c.1780T>C, NP_060123.3:p.Trp656Arg, NP_001340143.1:p.Trp711Arg, NP_001340142.1:p.Trp710Arg, NP_001340141.1:p.Trp710Arg, NP_001340140.1:p.Trp655Arg, NP_001340139.1:p.Trp655Arg, NP_001340144.1:p.Trp650Arg, NP_001340145.1:p.Trp595Arg, NP_001361357.1:p.Trp711Arg, NP_001361358.1:p.Trp709Arg, NP_001361360.1:p.Trp673Arg, NP_001361361.1:p.Trp669Arg, NP_001361363.1:p.Trp618Arg, NP_001361364.1:p.Trp617Arg, NP_001361365.1:p.Trp614Arg, NP_001361366.1:p.Trp595Arg, NP_001361367.1:p.Trp594Arg, NP_001361368.1:p.Trp593Arg, NP_001361369.1:p.Trp580Arg, NP_001361370.1:p.Trp521Arg, NP_001361371.1:p.Trp466Arg, NP_001361372.1:p.Trp465Arg, NP_001361373.1:p.Trp405Arg, XP_011524338.1:p.Leu695Pro, XP_011524340.1:p.Leu694Pro, XP_011524343.1:p.Leu634Pro, XP_011524339.1:p.Leu694Pro, XP_016881284.1:p.Leu693Pro, XP_047293509.1:p.Trp654Arg, XP_047293512.1:p.Trp594Arg

      3.

      rs1487363551 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        18:49163761 (GRCh38)
        18:46690131 (GRCh37)
        Canonical SPDI:
        NC_000018.10:49163760:T:A
        Gene:
        DYM (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=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000018.10:g.49163761T>A, NC_000018.9:g.46690131T>A, NG_009239.2:g.301973A>T, NM_017653.6:c.1487A>T, NM_017653.5:c.1487A>T, NM_017653.4:c.1487A>T, NM_017653.3:c.1487A>T, NM_001353214.3:c.1652A>T, NM_001353214.2:c.1652A>T, NM_001353214.1:c.1652A>T, NM_001353213.3:c.1649A>T, NM_001353213.2:c.1649A>T, NM_001353213.1:c.1649A>T, NM_001353212.3:c.1649A>T, NM_001353212.2:c.1649A>T, NM_001353212.1:c.1649A>T, NM_001353211.3:c.1484A>T, NM_001353211.2:c.1484A>T, NM_001353211.1:c.1484A>T, NM_001353210.3:c.1484A>T, NM_001353210.2:c.1484A>T, NM_001353210.1:c.1484A>T, NM_001353215.3:c.1652A>T, NM_001353215.2:c.1652A>T, NM_001353215.1:c.1652A>T, NM_001353216.3:c.1487A>T, NM_001353216.2:c.1487A>T, NM_001353216.1:c.1487A>T, NM_001374428.1:c.1652A>T, NM_001374430.1:c.1652A>T, NM_001374429.1:c.1646A>T, NM_001374433.1:c.1487A>T, NM_001374431.1:c.1652A>T, NM_001374432.1:c.1526A>T, NM_001374434.1:c.1487A>T, NM_001374435.1:c.1484A>T, NM_001374436.1:c.1361A>T, NM_001374437.1:c.1304A>T, NM_001374438.1:c.1484A>T, NM_001374439.1:c.1481A>T, NM_001374440.1:c.1259A>T, NM_001374441.1:c.1082A>T, NM_001374442.1:c.917A>T, NM_001374443.1:c.914A>T, NM_001374444.1:c.917A>T, XM_011526036.3:c.1487A>T, XM_011526036.2:c.1487A>T, XM_011526036.1:c.1487A>T, XM_011526038.3:c.1484A>T, XM_011526038.2:c.1484A>T, XM_011526038.1:c.1484A>T, XM_011526041.3:c.1487A>T, XM_011526041.2:c.1487A>T, XM_011526041.1:c.1487A>T, XM_011526042.3:c.1487A>T, XM_011526042.2:c.1487A>T, XM_011526042.1:c.1487A>T, XM_011526039.3:c.1487A>T, XM_011526039.2:c.1487A>T, XM_011526039.1:c.1487A>T, XM_011526037.2:c.1484A>T, XM_011526037.1:c.1484A>T, XM_017025795.2:c.1481A>T, XM_017025795.1:c.1481A>T, XM_047437555.1:c.1484A>T, XM_047437554.1:c.1484A>T, XM_047437553.1:c.1481A>T, XM_047437558.1:c.1487A>T, XM_047437559.1:c.1481A>T, XM_047437556.1:c.1484A>T, XM_047437560.1:c.1652A>T, XM_047437557.1:c.1487A>T, NP_060123.3:p.His496Leu, NP_001340143.1:p.His551Leu, NP_001340142.1:p.His550Leu, NP_001340141.1:p.His550Leu, NP_001340140.1:p.His495Leu, NP_001340139.1:p.His495Leu, NP_001340144.1:p.His551Leu, NP_001340145.1:p.His496Leu, NP_001361357.1:p.His551Leu, NP_001361359.1:p.His551Leu, NP_001361358.1:p.His549Leu, NP_001361362.1:p.His496Leu, NP_001361360.1:p.His551Leu, NP_001361361.1:p.His509Leu, NP_001361363.1:p.His496Leu, NP_001361364.1:p.His495Leu, NP_001361365.1:p.His454Leu, NP_001361366.1:p.His435Leu, NP_001361367.1:p.His495Leu, NP_001361368.1:p.His494Leu, NP_001361369.1:p.His420Leu, NP_001361370.1:p.His361Leu, NP_001361371.1:p.His306Leu, NP_001361372.1:p.His305Leu, NP_001361373.1:p.His306Leu, XP_011524338.1:p.His496Leu, XP_011524340.1:p.His495Leu, XP_011524343.1:p.His496Leu, XP_011524344.1:p.His496Leu, XP_011524341.1:p.His496Leu, XP_011524339.1:p.His495Leu, XP_016881284.1:p.His494Leu, XP_047293511.1:p.His495Leu, XP_047293510.1:p.His495Leu, XP_047293509.1:p.His494Leu, XP_047293514.1:p.His496Leu, XP_047293515.1:p.His494Leu, XP_047293512.1:p.His495Leu, XP_047293516.1:p.His551Leu, XP_047293513.1:p.His496Leu

        4.

        rs1486600578 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          18:49379746 (GRCh38)
          18:46906116 (GRCh37)
          Canonical SPDI:
          NC_000018.10:49379745:G:A
          Gene:
          DYM (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000018.10:g.49379746G>A, NC_000018.9:g.46906116G>A, NG_009239.2:g.85988C>T, NM_017653.6:c.206C>T, NM_017653.5:c.206C>T, NM_017653.4:c.206C>T, NM_017653.3:c.206C>T, NM_001353214.3:c.206C>T, NM_001353214.2:c.206C>T, NM_001353214.1:c.206C>T, NM_001353213.3:c.206C>T, NM_001353213.2:c.206C>T, NM_001353213.1:c.206C>T, NM_001353212.3:c.203C>T, NM_001353212.2:c.203C>T, NM_001353212.1:c.203C>T, NM_001353211.3:c.203C>T, NM_001353211.2:c.203C>T, NM_001353211.1:c.203C>T, NM_001353210.3:c.206C>T, NM_001353210.2:c.206C>T, NM_001353210.1:c.206C>T, NM_001353215.3:c.206C>T, NM_001353215.2:c.206C>T, NM_001353215.1:c.206C>T, NM_001353216.3:c.206C>T, NM_001353216.2:c.206C>T, NM_001353216.1:c.206C>T, NM_001374428.1:c.206C>T, NM_001374430.1:c.206C>T, NM_001374429.1:c.203C>T, NM_001374433.1:c.206C>T, NM_001374431.1:c.206C>T, NM_001374432.1:c.206C>T, NM_001374434.1:c.206C>T, NM_001374435.1:c.206C>T, NM_001374436.1:c.206C>T, NM_001374437.1:c.206C>T, NM_001374438.1:c.206C>T, NM_001374439.1:c.203C>T, XM_006722492.5:c.206C>T, XM_006722492.4:c.206C>T, XM_006722492.3:c.206C>T, XM_006722492.2:c.206C>T, XM_006722492.1:c.206C>T, XM_011526036.3:c.206C>T, XM_011526036.2:c.206C>T, XM_011526036.1:c.206C>T, XM_011526038.3:c.206C>T, XM_011526038.2:c.206C>T, XM_011526038.1:c.206C>T, XM_011526041.3:c.206C>T, XM_011526041.2:c.206C>T, XM_011526041.1:c.206C>T, XM_011526042.3:c.206C>T, XM_011526042.2:c.206C>T, XM_011526042.1:c.206C>T, XM_011526039.3:c.206C>T, XM_011526039.2:c.206C>T, XM_011526039.1:c.206C>T, XM_011526037.2:c.203C>T, XM_011526037.1:c.203C>T, XM_017025795.2:c.203C>T, XM_017025795.1:c.203C>T, XM_047437555.1:c.206C>T, XM_047437554.1:c.203C>T, XM_047437553.1:c.203C>T, XM_047437558.1:c.206C>T, XM_047437559.1:c.203C>T, XM_047437556.1:c.203C>T, XM_047437560.1:c.206C>T, XM_047437557.1:c.206C>T, NP_060123.3:p.Pro69Leu, NP_001340143.1:p.Pro69Leu, NP_001340142.1:p.Pro69Leu, NP_001340141.1:p.Pro68Leu, NP_001340140.1:p.Pro68Leu, NP_001340139.1:p.Pro69Leu, NP_001340144.1:p.Pro69Leu, NP_001340145.1:p.Pro69Leu, NP_001361357.1:p.Pro69Leu, NP_001361359.1:p.Pro69Leu, NP_001361358.1:p.Pro68Leu, NP_001361362.1:p.Pro69Leu, NP_001361360.1:p.Pro69Leu, NP_001361361.1:p.Pro69Leu, NP_001361363.1:p.Pro69Leu, NP_001361364.1:p.Pro69Leu, NP_001361365.1:p.Pro69Leu, NP_001361366.1:p.Pro69Leu, NP_001361367.1:p.Pro69Leu, NP_001361368.1:p.Pro68Leu, XP_006722555.1:p.Pro69Leu, XP_011524338.1:p.Pro69Leu, XP_011524340.1:p.Pro69Leu, XP_011524343.1:p.Pro69Leu, XP_011524344.1:p.Pro69Leu, XP_011524341.1:p.Pro69Leu, XP_011524339.1:p.Pro68Leu, XP_016881284.1:p.Pro68Leu, XP_047293511.1:p.Pro69Leu, XP_047293510.1:p.Pro68Leu, XP_047293509.1:p.Pro68Leu, XP_047293514.1:p.Pro69Leu, XP_047293515.1:p.Pro68Leu, XP_047293512.1:p.Pro68Leu, XP_047293516.1:p.Pro69Leu, XP_047293513.1:p.Pro69Leu

          5.

          rs1485550228 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            18:49093266 (GRCh38)
            18:46619636 (GRCh37)
            Canonical SPDI:
            NC_000018.10:49093265:A:G
            Gene:
            DYM (Varview)
            Functional Consequence:
            intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000018.10:g.49093266A>G, NC_000018.9:g.46619636A>G, NG_009239.2:g.372468T>C, NM_001374430.1:c.2071T>C, NM_001374433.1:c.1906T>C, XM_011526036.3:c.1929T>C, XM_011526036.2:c.1929T>C, XM_011526036.1:c.1929T>C, XM_011526038.3:c.1926T>C, XM_011526038.2:c.1926T>C, XM_011526038.1:c.1926T>C, XM_011526041.3:c.1746T>C, XM_011526041.2:c.1746T>C, XM_011526041.1:c.1746T>C, XM_011526042.3:c.1929T>C, XM_011526042.2:c.1929T>C, XM_011526042.1:c.1929T>C, XM_011526039.3:c.1906T>C, XM_011526039.2:c.1906T>C, XM_011526039.1:c.1906T>C, XM_011526037.2:c.1926T>C, XM_011526037.1:c.1926T>C, XM_017025795.2:c.1923T>C, XM_017025795.1:c.1923T>C, XM_047437555.1:c.1903T>C, XM_047437554.1:c.1903T>C, XM_047437558.1:c.1723T>C, XM_047437559.1:c.1717T>C, XM_047437560.1:c.2071T>C, NP_001361359.1:p.Phe691Leu, NP_001361362.1:p.Phe636Leu, XP_011524341.1:p.Phe636Leu, XP_047293511.1:p.Phe635Leu, XP_047293510.1:p.Phe635Leu, XP_047293514.1:p.Phe575Leu, XP_047293515.1:p.Phe573Leu, XP_047293516.1:p.Phe691Leu

            6.

            rs1484496297 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              18:49044152 (GRCh38)
              18:46570522 (GRCh37)
              Canonical SPDI:
              NC_000018.10:49044147:AAAAAA:AAAA
              Gene:
              DYM (Varview), DYM-AS1 (Varview)
              Functional Consequence:
              frameshift_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              AAAA=0./0 (ALFA)
              HGVS:
              NC_000018.10:g.49044152_49044153del, NC_000018.9:g.46570522_46570523del, NG_009239.2:g.421585_421586del, NM_017653.6:c.1916_1917del, NM_017653.5:c.1916_1917del, NM_017653.4:c.1916_1917del, NM_017653.3:c.1916_1917del, NM_001353214.3:c.2081_2082del, NM_001353214.2:c.2081_2082del, NM_001353214.1:c.2081_2082del, NM_001353213.3:c.2078_2079del, NM_001353213.2:c.2078_2079del, NM_001353213.1:c.2078_2079del, NM_001353212.3:c.2078_2079del, NM_001353212.2:c.2078_2079del, NM_001353212.1:c.2078_2079del, NM_001353211.3:c.1913_1914del, NM_001353211.2:c.1913_1914del, NM_001353211.1:c.1913_1914del, NM_001353210.3:c.1913_1914del, NM_001353210.2:c.1913_1914del, NM_001353210.1:c.1913_1914del, NM_001353215.3:c.1898_1899del, NM_001353215.2:c.1898_1899del, NM_001353215.1:c.1898_1899del, NM_001353216.3:c.1733_1734del, NM_001353216.2:c.1733_1734del, NM_001353216.1:c.1733_1734del, NM_001374428.1:c.2081_2082del, NM_001374430.1:c.*40_*41del, NM_001374429.1:c.2075_2076del, NM_001374433.1:c.*40_*41del, NM_001374431.1:c.1967_1968del, NM_001374432.1:c.1955_1956del, NM_001374434.1:c.1802_1803del, NM_001374435.1:c.1799_1800del, NM_001374436.1:c.1790_1791del, NM_001374437.1:c.1733_1734del, NM_001374438.1:c.1730_1731del, NM_001374439.1:c.1727_1728del, NM_001374440.1:c.1688_1689del, NM_001374441.1:c.1511_1512del, NM_001374442.1:c.1346_1347del, NM_001374443.1:c.1343_1344del, NM_001374444.1:c.1163_1164del, XM_011526036.3:c.2034_2035del, XM_011526036.2:c.2034_2035del, XM_011526036.1:c.2034_2035del, XM_011526038.3:c.2031_2032del, XM_011526038.2:c.2031_2032del, XM_011526038.1:c.2031_2032del, XM_011526041.3:c.1851_1852del, XM_011526041.2:c.1851_1852del, XM_011526041.1:c.1851_1852del, XM_011526037.2:c.2031_2032del, XM_011526037.1:c.2031_2032del, XM_017025795.2:c.2028_2029del, XM_017025795.1:c.2028_2029del, XM_047437555.1:c.*40_*41del, XM_047437554.1:c.*40_*41del, XM_047437553.1:c.1910_1911del, XM_047437558.1:c.*40_*41del, XM_047437559.1:c.*40_*41del, XM_047437556.1:c.1730_1731del, NP_060123.3:p.Phe639fs, NP_001340143.1:p.Phe694fs, NP_001340142.1:p.Phe693fs, NP_001340141.1:p.Phe693fs, NP_001340140.1:p.Phe638fs, NP_001340139.1:p.Phe638fs, NP_001340144.1:p.Phe633fs, NP_001340145.1:p.Phe578fs, NP_001361357.1:p.Phe694fs, NP_001361358.1:p.Phe692fs, NP_001361360.1:p.Phe656fs, NP_001361361.1:p.Phe652fs, NP_001361363.1:p.Phe601fs, NP_001361364.1:p.Phe600fs, NP_001361365.1:p.Phe597fs, NP_001361366.1:p.Phe578fs, NP_001361367.1:p.Phe577fs, NP_001361368.1:p.Phe576fs, NP_001361369.1:p.Phe563fs, NP_001361370.1:p.Phe504fs, NP_001361371.1:p.Phe449fs, NP_001361372.1:p.Phe448fs, NP_001361373.1:p.Phe388fs, XP_011524338.1:p.Phe678fs, XP_011524340.1:p.Phe677fs, XP_011524343.1:p.Phe617fs, XP_011524339.1:p.Phe677fs, XP_016881284.1:p.Phe676fs, XP_047293509.1:p.Phe637fs, XP_047293512.1:p.Phe577fs

              7.

              rs1484131169 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                18:49282071 (GRCh38)
                18:46808441 (GRCh37)
                Canonical SPDI:
                NC_000018.10:49282070:G:A
                Gene:
                DYM (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000012/3 (GnomAD_exomes)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000018.10:g.49282071G>A, NC_000018.9:g.46808441G>A, NG_009239.2:g.183663C>T, NM_017653.6:c.1051C>T, NM_017653.5:c.1051C>T, NM_017653.4:c.1051C>T, NM_017653.3:c.1051C>T, NM_001353214.3:c.1051C>T, NM_001353214.2:c.1051C>T, NM_001353214.1:c.1051C>T, NM_001353213.3:c.1048C>T, NM_001353213.2:c.1048C>T, NM_001353213.1:c.1048C>T, NM_001353212.3:c.1048C>T, NM_001353212.2:c.1048C>T, NM_001353212.1:c.1048C>T, NM_001353211.3:c.1048C>T, NM_001353211.2:c.1048C>T, NM_001353211.1:c.1048C>T, NM_001353210.3:c.1048C>T, NM_001353210.2:c.1048C>T, NM_001353210.1:c.1048C>T, NM_001353215.3:c.1051C>T, NM_001353215.2:c.1051C>T, NM_001353215.1:c.1051C>T, NM_001353216.3:c.1051C>T, NM_001353216.2:c.1051C>T, NM_001353216.1:c.1051C>T, NM_001374428.1:c.1051C>T, NM_001374430.1:c.1051C>T, NM_001374429.1:c.1045C>T, NM_001374433.1:c.1051C>T, NM_001374431.1:c.1051C>T, NM_001374432.1:c.925C>T, NM_001374434.1:c.1051C>T, NM_001374435.1:c.1048C>T, NM_001374436.1:c.925C>T, NM_001374437.1:c.868C>T, NM_001374438.1:c.1048C>T, NM_001374439.1:c.1045C>T, NM_001374440.1:c.823C>T, NM_001374441.1:c.481C>T, NM_001374442.1:c.481C>T, NM_001374443.1:c.478C>T, NM_001374444.1:c.481C>T, XM_006722492.5:c.1051C>T, XM_006722492.4:c.1051C>T, XM_006722492.3:c.1051C>T, XM_006722492.2:c.1051C>T, XM_006722492.1:c.1051C>T, XM_011526036.3:c.1051C>T, XM_011526036.2:c.1051C>T, XM_011526036.1:c.1051C>T, XM_011526038.3:c.1048C>T, XM_011526038.2:c.1048C>T, XM_011526038.1:c.1048C>T, XM_011526041.3:c.1051C>T, XM_011526041.2:c.1051C>T, XM_011526041.1:c.1051C>T, XM_011526042.3:c.1051C>T, XM_011526042.2:c.1051C>T, XM_011526042.1:c.1051C>T, XM_011526039.3:c.1051C>T, XM_011526039.2:c.1051C>T, XM_011526039.1:c.1051C>T, XM_011526037.2:c.1048C>T, XM_011526037.1:c.1048C>T, XM_017025795.2:c.1045C>T, XM_017025795.1:c.1045C>T, XM_047437555.1:c.1048C>T, XM_047437554.1:c.1048C>T, XM_047437553.1:c.1045C>T, XM_047437558.1:c.1051C>T, XM_047437559.1:c.1045C>T, XM_047437556.1:c.1048C>T, XM_047437560.1:c.1051C>T, XM_047437557.1:c.1051C>T, NP_060123.3:p.Leu351Phe, NP_001340143.1:p.Leu351Phe, NP_001340142.1:p.Leu350Phe, NP_001340141.1:p.Leu350Phe, NP_001340140.1:p.Leu350Phe, NP_001340139.1:p.Leu350Phe, NP_001340144.1:p.Leu351Phe, NP_001340145.1:p.Leu351Phe, NP_001361357.1:p.Leu351Phe, NP_001361359.1:p.Leu351Phe, NP_001361358.1:p.Leu349Phe, NP_001361362.1:p.Leu351Phe, NP_001361360.1:p.Leu351Phe, NP_001361361.1:p.Leu309Phe, NP_001361363.1:p.Leu351Phe, NP_001361364.1:p.Leu350Phe, NP_001361365.1:p.Leu309Phe, NP_001361366.1:p.Leu290Phe, NP_001361367.1:p.Leu350Phe, NP_001361368.1:p.Leu349Phe, NP_001361369.1:p.Leu275Phe, NP_001361370.1:p.Leu161Phe, NP_001361371.1:p.Leu161Phe, NP_001361372.1:p.Leu160Phe, NP_001361373.1:p.Leu161Phe, XP_006722555.1:p.Leu351Phe, XP_011524338.1:p.Leu351Phe, XP_011524340.1:p.Leu350Phe, XP_011524343.1:p.Leu351Phe, XP_011524344.1:p.Leu351Phe, XP_011524341.1:p.Leu351Phe, XP_011524339.1:p.Leu350Phe, XP_016881284.1:p.Leu349Phe, XP_047293511.1:p.Leu350Phe, XP_047293510.1:p.Leu350Phe, XP_047293509.1:p.Leu349Phe, XP_047293514.1:p.Leu351Phe, XP_047293515.1:p.Leu349Phe, XP_047293512.1:p.Leu350Phe, XP_047293516.1:p.Leu351Phe, XP_047293513.1:p.Leu351Phe

                8.

                rs1479072607 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  18:49258390 (GRCh38)
                  18:46784760 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:49258389:G:A,NC_000018.10:49258389:G:C
                  Gene:
                  DYM (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000031/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000018.10:g.49258390G>A, NC_000018.10:g.49258390G>C, NC_000018.9:g.46784760G>A, NC_000018.9:g.46784760G>C, NG_009239.2:g.207344C>T, NG_009239.2:g.207344C>G, NM_017653.6:c.1355C>T, NM_017653.6:c.1355C>G, NM_017653.5:c.1355C>T, NM_017653.5:c.1355C>G, NM_017653.4:c.1355C>T, NM_017653.4:c.1355C>G, NM_017653.3:c.1355C>T, NM_017653.3:c.1355C>G, NM_001353214.3:c.1355C>T, NM_001353214.3:c.1355C>G, NM_001353214.2:c.1355C>T, NM_001353214.2:c.1355C>G, NM_001353214.1:c.1355C>T, NM_001353214.1:c.1355C>G, NM_001353213.3:c.1352C>T, NM_001353213.3:c.1352C>G, NM_001353213.2:c.1352C>T, NM_001353213.2:c.1352C>G, NM_001353213.1:c.1352C>T, NM_001353213.1:c.1352C>G, NM_001353212.3:c.1352C>T, NM_001353212.3:c.1352C>G, NM_001353212.2:c.1352C>T, NM_001353212.2:c.1352C>G, NM_001353212.1:c.1352C>T, NM_001353212.1:c.1352C>G, NM_001353211.3:c.1352C>T, NM_001353211.3:c.1352C>G, NM_001353211.2:c.1352C>T, NM_001353211.2:c.1352C>G, NM_001353211.1:c.1352C>T, NM_001353211.1:c.1352C>G, NM_001353210.3:c.1352C>T, NM_001353210.3:c.1352C>G, NM_001353210.2:c.1352C>T, NM_001353210.2:c.1352C>G, NM_001353210.1:c.1352C>T, NM_001353210.1:c.1352C>G, NM_001353215.3:c.1355C>T, NM_001353215.3:c.1355C>G, NM_001353215.2:c.1355C>T, NM_001353215.2:c.1355C>G, NM_001353215.1:c.1355C>T, NM_001353215.1:c.1355C>G, NM_001353216.3:c.1355C>T, NM_001353216.3:c.1355C>G, NM_001353216.2:c.1355C>T, NM_001353216.2:c.1355C>G, NM_001353216.1:c.1355C>T, NM_001353216.1:c.1355C>G, NM_001374428.1:c.1355C>T, NM_001374428.1:c.1355C>G, NM_001374430.1:c.1355C>T, NM_001374430.1:c.1355C>G, NM_001374429.1:c.1349C>T, NM_001374429.1:c.1349C>G, NM_001374433.1:c.1355C>T, NM_001374433.1:c.1355C>G, NM_001374431.1:c.1355C>T, NM_001374431.1:c.1355C>G, NM_001374432.1:c.1229C>T, NM_001374432.1:c.1229C>G, NM_001374434.1:c.1355C>T, NM_001374434.1:c.1355C>G, NM_001374435.1:c.1352C>T, NM_001374435.1:c.1352C>G, NM_001374436.1:c.1229C>T, NM_001374436.1:c.1229C>G, NM_001374437.1:c.1172C>T, NM_001374437.1:c.1172C>G, NM_001374438.1:c.1352C>T, NM_001374438.1:c.1352C>G, NM_001374439.1:c.1349C>T, NM_001374439.1:c.1349C>G, NM_001374440.1:c.1127C>T, NM_001374440.1:c.1127C>G, NM_001374441.1:c.785C>T, NM_001374441.1:c.785C>G, NM_001374442.1:c.785C>T, NM_001374442.1:c.785C>G, NM_001374443.1:c.782C>T, NM_001374443.1:c.782C>G, NM_001374444.1:c.785C>T, NM_001374444.1:c.785C>G, XM_006722492.5:c.1355C>T, XM_006722492.5:c.1355C>G, XM_006722492.4:c.1355C>T, XM_006722492.4:c.1355C>G, XM_006722492.3:c.1355C>T, XM_006722492.3:c.1355C>G, XM_006722492.2:c.1355C>T, XM_006722492.2:c.1355C>G, XM_006722492.1:c.1355C>T, XM_006722492.1:c.1355C>G, XM_011526036.3:c.1355C>T, XM_011526036.3:c.1355C>G, XM_011526036.2:c.1355C>T, XM_011526036.2:c.1355C>G, XM_011526036.1:c.1355C>T, XM_011526036.1:c.1355C>G, XM_011526038.3:c.1352C>T, XM_011526038.3:c.1352C>G, XM_011526038.2:c.1352C>T, XM_011526038.2:c.1352C>G, XM_011526038.1:c.1352C>T, XM_011526038.1:c.1352C>G, XM_011526041.3:c.1355C>T, XM_011526041.3:c.1355C>G, XM_011526041.2:c.1355C>T, XM_011526041.2:c.1355C>G, XM_011526041.1:c.1355C>T, XM_011526041.1:c.1355C>G, XM_011526042.3:c.1355C>T, XM_011526042.3:c.1355C>G, XM_011526042.2:c.1355C>T, XM_011526042.2:c.1355C>G, XM_011526042.1:c.1355C>T, XM_011526042.1:c.1355C>G, XM_011526039.3:c.1355C>T, XM_011526039.3:c.1355C>G, XM_011526039.2:c.1355C>T, XM_011526039.2:c.1355C>G, XM_011526039.1:c.1355C>T, XM_011526039.1:c.1355C>G, XM_011526037.2:c.1352C>T, XM_011526037.2:c.1352C>G, XM_011526037.1:c.1352C>T, XM_011526037.1:c.1352C>G, XM_017025795.2:c.1349C>T, XM_017025795.2:c.1349C>G, XM_017025795.1:c.1349C>T, XM_017025795.1:c.1349C>G, XM_047437555.1:c.1352C>T, XM_047437555.1:c.1352C>G, XM_047437554.1:c.1352C>T, XM_047437554.1:c.1352C>G, XM_047437553.1:c.1349C>T, XM_047437553.1:c.1349C>G, XM_047437558.1:c.1355C>T, XM_047437558.1:c.1355C>G, XM_047437559.1:c.1349C>T, XM_047437559.1:c.1349C>G, XM_047437556.1:c.1352C>T, XM_047437556.1:c.1352C>G, XM_047437560.1:c.1355C>T, XM_047437560.1:c.1355C>G, XM_047437557.1:c.1355C>T, XM_047437557.1:c.1355C>G, NP_060123.3:p.Thr452Ile, NP_060123.3:p.Thr452Ser, NP_001340143.1:p.Thr452Ile, NP_001340143.1:p.Thr452Ser, NP_001340142.1:p.Thr451Ile, NP_001340142.1:p.Thr451Ser, NP_001340141.1:p.Thr451Ile, NP_001340141.1:p.Thr451Ser, NP_001340140.1:p.Thr451Ile, NP_001340140.1:p.Thr451Ser, NP_001340139.1:p.Thr451Ile, NP_001340139.1:p.Thr451Ser, NP_001340144.1:p.Thr452Ile, NP_001340144.1:p.Thr452Ser, NP_001340145.1:p.Thr452Ile, NP_001340145.1:p.Thr452Ser, NP_001361357.1:p.Thr452Ile, NP_001361357.1:p.Thr452Ser, NP_001361359.1:p.Thr452Ile, NP_001361359.1:p.Thr452Ser, NP_001361358.1:p.Thr450Ile, NP_001361358.1:p.Thr450Ser, NP_001361362.1:p.Thr452Ile, NP_001361362.1:p.Thr452Ser, NP_001361360.1:p.Thr452Ile, NP_001361360.1:p.Thr452Ser, NP_001361361.1:p.Thr410Ile, NP_001361361.1:p.Thr410Ser, NP_001361363.1:p.Thr452Ile, NP_001361363.1:p.Thr452Ser, NP_001361364.1:p.Thr451Ile, NP_001361364.1:p.Thr451Ser, NP_001361365.1:p.Thr410Ile, NP_001361365.1:p.Thr410Ser, NP_001361366.1:p.Thr391Ile, NP_001361366.1:p.Thr391Ser, NP_001361367.1:p.Thr451Ile, NP_001361367.1:p.Thr451Ser, NP_001361368.1:p.Thr450Ile, NP_001361368.1:p.Thr450Ser, NP_001361369.1:p.Thr376Ile, NP_001361369.1:p.Thr376Ser, NP_001361370.1:p.Thr262Ile, NP_001361370.1:p.Thr262Ser, NP_001361371.1:p.Thr262Ile, NP_001361371.1:p.Thr262Ser, NP_001361372.1:p.Thr261Ile, NP_001361372.1:p.Thr261Ser, NP_001361373.1:p.Thr262Ile, NP_001361373.1:p.Thr262Ser, XP_006722555.1:p.Thr452Ile, XP_006722555.1:p.Thr452Ser, XP_011524338.1:p.Thr452Ile, XP_011524338.1:p.Thr452Ser, XP_011524340.1:p.Thr451Ile, XP_011524340.1:p.Thr451Ser, XP_011524343.1:p.Thr452Ile, XP_011524343.1:p.Thr452Ser, XP_011524344.1:p.Thr452Ile, XP_011524344.1:p.Thr452Ser, XP_011524341.1:p.Thr452Ile, XP_011524341.1:p.Thr452Ser, XP_011524339.1:p.Thr451Ile, XP_011524339.1:p.Thr451Ser, XP_016881284.1:p.Thr450Ile, XP_016881284.1:p.Thr450Ser, XP_047293511.1:p.Thr451Ile, XP_047293511.1:p.Thr451Ser, XP_047293510.1:p.Thr451Ile, XP_047293510.1:p.Thr451Ser, XP_047293509.1:p.Thr450Ile, XP_047293509.1:p.Thr450Ser, XP_047293514.1:p.Thr452Ile, XP_047293514.1:p.Thr452Ser, XP_047293515.1:p.Thr450Ile, XP_047293515.1:p.Thr450Ser, XP_047293512.1:p.Thr451Ile, XP_047293512.1:p.Thr451Ser, XP_047293516.1:p.Thr452Ile, XP_047293516.1:p.Thr452Ser, XP_047293513.1:p.Thr452Ile, XP_047293513.1:p.Thr452Ser

                  9.

                  rs1478554065 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    18:49044049 (GRCh38)
                    18:46570419 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:49044048:C:G
                    Gene:
                    DYM (Varview), DYM-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000056/2 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000018.10:g.49044049C>G, NC_000018.9:g.46570419C>G, NG_009239.2:g.421685G>C, NM_017653.6:c.*6G>C, NM_017653.5:c.*6G>C, NM_017653.4:c.*6G>C, NM_017653.3:c.*6G>C, NM_001353214.3:c.*6G>C, NM_001353214.2:c.*6G>C, NM_001353214.1:c.*6G>C, NM_001353213.3:c.*6G>C, NM_001353213.2:c.*6G>C, NM_001353213.1:c.*6G>C, NM_001353212.3:c.*6G>C, NM_001353212.2:c.*6G>C, NM_001353212.1:c.*6G>C, NM_001353211.3:c.*6G>C, NM_001353211.2:c.*6G>C, NM_001353211.1:c.*6G>C, NM_001353210.3:c.*6G>C, NM_001353210.2:c.*6G>C, NM_001353210.1:c.*6G>C, NM_001353215.3:c.*6G>C, NM_001353215.2:c.*6G>C, NM_001353215.1:c.*6G>C, NM_001353216.3:c.*6G>C, NM_001353216.2:c.*6G>C, NM_001353216.1:c.*6G>C, NM_001374428.1:c.*6G>C, NM_001374430.1:c.*140G>C, NM_001374429.1:c.*6G>C, NM_001374433.1:c.*140G>C, NM_001374431.1:c.*6G>C, NM_001374432.1:c.*6G>C, NM_001374434.1:c.*6G>C, NM_001374435.1:c.*6G>C, NM_001374436.1:c.*6G>C, NM_001374437.1:c.*6G>C, NM_001374438.1:c.*6G>C, NM_001374439.1:c.*6G>C, NM_001374440.1:c.*6G>C, NM_001374441.1:c.*6G>C, NM_001374442.1:c.*6G>C, NM_001374443.1:c.*6G>C, NM_001374444.1:c.*6G>C, XM_011526036.3:c.2134G>C, XM_011526036.2:c.2134G>C, XM_011526036.1:c.2134G>C, XM_011526038.3:c.2131G>C, XM_011526038.2:c.2131G>C, XM_011526038.1:c.2131G>C, XM_011526041.3:c.1951G>C, XM_011526041.2:c.1951G>C, XM_011526041.1:c.1951G>C, XM_011526037.2:c.2131G>C, XM_011526037.1:c.2131G>C, XM_017025795.2:c.2128G>C, XM_017025795.1:c.2128G>C, XM_047437555.1:c.*140G>C, XM_047437554.1:c.*140G>C, XM_047437553.1:c.*6G>C, XM_047437558.1:c.*140G>C, XM_047437559.1:c.*140G>C, XM_047437556.1:c.*6G>C, XP_011524338.1:p.Gly712Arg, XP_011524340.1:p.Gly711Arg, XP_011524343.1:p.Gly651Arg, XP_011524339.1:p.Gly711Arg, XP_016881284.1:p.Gly710Arg

                    10.

                    rs1478140625 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      18:49378591 (GRCh38)
                      18:46904961 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:49378590:C:T
                      Gene:
                      DYM (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000018.10:g.49378591C>T, NC_000018.9:g.46904961C>T, NG_009239.2:g.87143G>A, NM_017653.6:c.397G>A, NM_017653.5:c.397G>A, NM_017653.4:c.397G>A, NM_017653.3:c.397G>A, NM_001353214.3:c.397G>A, NM_001353214.2:c.397G>A, NM_001353214.1:c.397G>A, NM_001353213.3:c.397G>A, NM_001353213.2:c.397G>A, NM_001353213.1:c.397G>A, NM_001353212.3:c.394G>A, NM_001353212.2:c.394G>A, NM_001353212.1:c.394G>A, NM_001353211.3:c.394G>A, NM_001353211.2:c.394G>A, NM_001353211.1:c.394G>A, NM_001353210.3:c.397G>A, NM_001353210.2:c.397G>A, NM_001353210.1:c.397G>A, NM_001353215.3:c.397G>A, NM_001353215.2:c.397G>A, NM_001353215.1:c.397G>A, NM_001353216.3:c.397G>A, NM_001353216.2:c.397G>A, NM_001353216.1:c.397G>A, NM_001374428.1:c.397G>A, NM_001374430.1:c.397G>A, NM_001374429.1:c.394G>A, NM_001374433.1:c.397G>A, NM_001374431.1:c.397G>A, NM_001374432.1:c.397G>A, NM_001374434.1:c.397G>A, NM_001374435.1:c.397G>A, NM_001374436.1:c.397G>A, NM_001374437.1:c.397G>A, NM_001374438.1:c.397G>A, NM_001374439.1:c.394G>A, XM_006722492.5:c.397G>A, XM_006722492.4:c.397G>A, XM_006722492.3:c.397G>A, XM_006722492.2:c.397G>A, XM_006722492.1:c.397G>A, XM_011526036.3:c.397G>A, XM_011526036.2:c.397G>A, XM_011526036.1:c.397G>A, XM_011526038.3:c.397G>A, XM_011526038.2:c.397G>A, XM_011526038.1:c.397G>A, XM_011526041.3:c.397G>A, XM_011526041.2:c.397G>A, XM_011526041.1:c.397G>A, XM_011526042.3:c.397G>A, XM_011526042.2:c.397G>A, XM_011526042.1:c.397G>A, XM_011526039.3:c.397G>A, XM_011526039.2:c.397G>A, XM_011526039.1:c.397G>A, XM_011526037.2:c.394G>A, XM_011526037.1:c.394G>A, XM_017025795.2:c.394G>A, XM_017025795.1:c.394G>A, XM_047437555.1:c.397G>A, XM_047437554.1:c.394G>A, XM_047437553.1:c.394G>A, XM_047437558.1:c.397G>A, XM_047437559.1:c.394G>A, XM_047437556.1:c.394G>A, XM_047437560.1:c.397G>A, XM_047437557.1:c.397G>A, NP_060123.3:p.Glu133Lys, NP_001340143.1:p.Glu133Lys, NP_001340142.1:p.Glu133Lys, NP_001340141.1:p.Glu132Lys, NP_001340140.1:p.Glu132Lys, NP_001340139.1:p.Glu133Lys, NP_001340144.1:p.Glu133Lys, NP_001340145.1:p.Glu133Lys, NP_001361357.1:p.Glu133Lys, NP_001361359.1:p.Glu133Lys, NP_001361358.1:p.Glu132Lys, NP_001361362.1:p.Glu133Lys, NP_001361360.1:p.Glu133Lys, NP_001361361.1:p.Glu133Lys, NP_001361363.1:p.Glu133Lys, NP_001361364.1:p.Glu133Lys, NP_001361365.1:p.Glu133Lys, NP_001361366.1:p.Glu133Lys, NP_001361367.1:p.Glu133Lys, NP_001361368.1:p.Glu132Lys, XP_006722555.1:p.Glu133Lys, XP_011524338.1:p.Glu133Lys, XP_011524340.1:p.Glu133Lys, XP_011524343.1:p.Glu133Lys, XP_011524344.1:p.Glu133Lys, XP_011524341.1:p.Glu133Lys, XP_011524339.1:p.Glu132Lys, XP_016881284.1:p.Glu132Lys, XP_047293511.1:p.Glu133Lys, XP_047293510.1:p.Glu132Lys, XP_047293509.1:p.Glu132Lys, XP_047293514.1:p.Glu133Lys, XP_047293515.1:p.Glu132Lys, XP_047293512.1:p.Glu132Lys, XP_047293516.1:p.Glu133Lys, XP_047293513.1:p.Glu133Lys

                      11.

                      rs1476828930 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        18:49391611 (GRCh38)
                        18:46917981 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:49391610:A:C
                        Gene:
                        DYM (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0./0 (GnomAD)
                        HGVS:
                        NC_000018.10:g.49391611A>C, NC_000018.9:g.46917981A>C, NG_009239.2:g.74123T>G, NM_017653.6:c.175T>G, NM_017653.5:c.175T>G, NM_017653.4:c.175T>G, NM_017653.3:c.175T>G, NM_001353214.3:c.175T>G, NM_001353214.2:c.175T>G, NM_001353214.1:c.175T>G, NM_001353213.3:c.175T>G, NM_001353213.2:c.175T>G, NM_001353213.1:c.175T>G, NM_001353212.3:c.172T>G, NM_001353212.2:c.172T>G, NM_001353212.1:c.172T>G, NM_001353211.3:c.172T>G, NM_001353211.2:c.172T>G, NM_001353211.1:c.172T>G, NM_001353210.3:c.175T>G, NM_001353210.2:c.175T>G, NM_001353210.1:c.175T>G, NM_001353215.3:c.175T>G, NM_001353215.2:c.175T>G, NM_001353215.1:c.175T>G, NM_001353216.3:c.175T>G, NM_001353216.2:c.175T>G, NM_001353216.1:c.175T>G, NM_001374428.1:c.175T>G, NM_001374430.1:c.175T>G, NM_001374429.1:c.172T>G, NM_001374433.1:c.175T>G, NM_001374431.1:c.175T>G, NM_001374432.1:c.175T>G, NM_001374434.1:c.175T>G, NM_001374435.1:c.175T>G, NM_001374436.1:c.175T>G, NM_001374437.1:c.175T>G, NM_001374438.1:c.175T>G, NM_001374439.1:c.172T>G, NM_001374440.1:c.175T>G, NM_001374441.1:c.175T>G, NM_001374442.1:c.175T>G, NM_001374443.1:c.175T>G, NM_001374444.1:c.175T>G, XM_006722492.5:c.175T>G, XM_006722492.4:c.175T>G, XM_006722492.3:c.175T>G, XM_006722492.2:c.175T>G, XM_006722492.1:c.175T>G, XM_011526036.3:c.175T>G, XM_011526036.2:c.175T>G, XM_011526036.1:c.175T>G, XM_011526038.3:c.175T>G, XM_011526038.2:c.175T>G, XM_011526038.1:c.175T>G, XM_011526041.3:c.175T>G, XM_011526041.2:c.175T>G, XM_011526041.1:c.175T>G, XM_011526042.3:c.175T>G, XM_011526042.2:c.175T>G, XM_011526042.1:c.175T>G, XM_011526039.3:c.175T>G, XM_011526039.2:c.175T>G, XM_011526039.1:c.175T>G, XM_011526037.2:c.172T>G, XM_011526037.1:c.172T>G, XM_017025795.2:c.172T>G, XM_017025795.1:c.172T>G, XM_047437555.1:c.175T>G, XM_047437554.1:c.172T>G, XM_047437553.1:c.172T>G, XM_047437558.1:c.175T>G, XM_047437559.1:c.172T>G, XM_047437556.1:c.172T>G, XM_047437560.1:c.175T>G, XM_047437557.1:c.175T>G, NP_060123.3:p.Ser59Ala, NP_001340143.1:p.Ser59Ala, NP_001340142.1:p.Ser59Ala, NP_001340141.1:p.Ser58Ala, NP_001340140.1:p.Ser58Ala, NP_001340139.1:p.Ser59Ala, NP_001340144.1:p.Ser59Ala, NP_001340145.1:p.Ser59Ala, NP_001361357.1:p.Ser59Ala, NP_001361359.1:p.Ser59Ala, NP_001361358.1:p.Ser58Ala, NP_001361362.1:p.Ser59Ala, NP_001361360.1:p.Ser59Ala, NP_001361361.1:p.Ser59Ala, NP_001361363.1:p.Ser59Ala, NP_001361364.1:p.Ser59Ala, NP_001361365.1:p.Ser59Ala, NP_001361366.1:p.Ser59Ala, NP_001361367.1:p.Ser59Ala, NP_001361368.1:p.Ser58Ala, NP_001361369.1:p.Ser59Ala, NP_001361370.1:p.Ser59Ala, NP_001361371.1:p.Ser59Ala, NP_001361372.1:p.Ser59Ala, NP_001361373.1:p.Ser59Ala, XP_006722555.1:p.Ser59Ala, XP_011524338.1:p.Ser59Ala, XP_011524340.1:p.Ser59Ala, XP_011524343.1:p.Ser59Ala, XP_011524344.1:p.Ser59Ala, XP_011524341.1:p.Ser59Ala, XP_011524339.1:p.Ser58Ala, XP_016881284.1:p.Ser58Ala, XP_047293511.1:p.Ser59Ala, XP_047293510.1:p.Ser58Ala, XP_047293509.1:p.Ser58Ala, XP_047293514.1:p.Ser59Ala, XP_047293515.1:p.Ser58Ala, XP_047293512.1:p.Ser58Ala, XP_047293516.1:p.Ser59Ala, XP_047293513.1:p.Ser59Ala

                        12.

                        rs1476637312 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          18:49430317 (GRCh38)
                          18:46956687 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:49430316:G:T
                          Gene:
                          DYM (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000047/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000018.10:g.49430317G>T, NC_000018.9:g.46956687G>T, NG_009239.2:g.35417C>A, NM_017653.6:c.78C>A, NM_017653.5:c.78C>A, NM_017653.4:c.78C>A, NM_017653.3:c.78C>A, NM_001353214.3:c.78C>A, NM_001353214.2:c.78C>A, NM_001353214.1:c.78C>A, NM_001353213.3:c.78C>A, NM_001353213.2:c.78C>A, NM_001353213.1:c.78C>A, NM_001353212.3:c.78C>A, NM_001353212.2:c.78C>A, NM_001353212.1:c.78C>A, NM_001353211.3:c.78C>A, NM_001353211.2:c.78C>A, NM_001353211.1:c.78C>A, NM_001353210.3:c.78C>A, NM_001353210.2:c.78C>A, NM_001353210.1:c.78C>A, NM_001353215.3:c.78C>A, NM_001353215.2:c.78C>A, NM_001353215.1:c.78C>A, NM_001353216.3:c.78C>A, NM_001353216.2:c.78C>A, NM_001353216.1:c.78C>A, NM_001374428.1:c.78C>A, NM_001374430.1:c.78C>A, NM_001374429.1:c.78C>A, NM_001374433.1:c.78C>A, NM_001374431.1:c.78C>A, NM_001374432.1:c.78C>A, NM_001374434.1:c.78C>A, NM_001374435.1:c.78C>A, NM_001374436.1:c.78C>A, NM_001374437.1:c.78C>A, NM_001374438.1:c.78C>A, NM_001374439.1:c.78C>A, NM_001374440.1:c.78C>A, NM_001374441.1:c.78C>A, NM_001374442.1:c.78C>A, NM_001374443.1:c.78C>A, NM_001374444.1:c.78C>A, XM_006722492.5:c.78C>A, XM_006722492.4:c.78C>A, XM_006722492.3:c.78C>A, XM_006722492.2:c.78C>A, XM_006722492.1:c.78C>A, XM_011526036.3:c.78C>A, XM_011526036.2:c.78C>A, XM_011526036.1:c.78C>A, XM_011526038.3:c.78C>A, XM_011526038.2:c.78C>A, XM_011526038.1:c.78C>A, XM_011526041.3:c.78C>A, XM_011526041.2:c.78C>A, XM_011526041.1:c.78C>A, XM_011526042.3:c.78C>A, XM_011526042.2:c.78C>A, XM_011526042.1:c.78C>A, XM_011526039.3:c.78C>A, XM_011526039.2:c.78C>A, XM_011526039.1:c.78C>A, XM_011526037.2:c.78C>A, XM_011526037.1:c.78C>A, XM_017025795.2:c.78C>A, XM_017025795.1:c.78C>A, XM_047437555.1:c.78C>A, XM_047437554.1:c.78C>A, XM_047437553.1:c.78C>A, XM_047437558.1:c.78C>A, XM_047437559.1:c.78C>A, XM_047437556.1:c.78C>A, XM_047437560.1:c.78C>A, XM_047437557.1:c.78C>A

                          13.

                          rs1474441840 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            18:49093298 (GRCh38)
                            18:46619668 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:49093297:C:A,NC_000018.10:49093297:C:T
                            Gene:
                            DYM (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000018.10:g.49093298C>A, NC_000018.10:g.49093298C>T, NC_000018.9:g.46619668C>A, NC_000018.9:g.46619668C>T, NG_009239.2:g.372436G>T, NG_009239.2:g.372436G>A, NM_001374430.1:c.2039G>T, NM_001374430.1:c.2039G>A, NM_001374433.1:c.1874G>T, NM_001374433.1:c.1874G>A, XM_011526036.3:c.1897G>T, XM_011526036.3:c.1897G>A, XM_011526036.2:c.1897G>T, XM_011526036.2:c.1897G>A, XM_011526036.1:c.1897G>T, XM_011526036.1:c.1897G>A, XM_011526038.3:c.1894G>T, XM_011526038.3:c.1894G>A, XM_011526038.2:c.1894G>T, XM_011526038.2:c.1894G>A, XM_011526038.1:c.1894G>T, XM_011526038.1:c.1894G>A, XM_011526041.3:c.1714G>T, XM_011526041.3:c.1714G>A, XM_011526041.2:c.1714G>T, XM_011526041.2:c.1714G>A, XM_011526041.1:c.1714G>T, XM_011526041.1:c.1714G>A, XM_011526042.3:c.1897G>T, XM_011526042.3:c.1897G>A, XM_011526042.2:c.1897G>T, XM_011526042.2:c.1897G>A, XM_011526042.1:c.1897G>T, XM_011526042.1:c.1897G>A, XM_011526039.3:c.1874G>T, XM_011526039.3:c.1874G>A, XM_011526039.2:c.1874G>T, XM_011526039.2:c.1874G>A, XM_011526039.1:c.1874G>T, XM_011526039.1:c.1874G>A, XM_011526037.2:c.1894G>T, XM_011526037.2:c.1894G>A, XM_011526037.1:c.1894G>T, XM_011526037.1:c.1894G>A, XM_017025795.2:c.1891G>T, XM_017025795.2:c.1891G>A, XM_017025795.1:c.1891G>T, XM_017025795.1:c.1891G>A, XM_047437555.1:c.1871G>T, XM_047437555.1:c.1871G>A, XM_047437554.1:c.1871G>T, XM_047437554.1:c.1871G>A, XM_047437558.1:c.1691G>T, XM_047437558.1:c.1691G>A, XM_047437559.1:c.1685G>T, XM_047437559.1:c.1685G>A, XM_047437560.1:c.2039G>T, XM_047437560.1:c.2039G>A, NP_001361359.1:p.Arg680Leu, NP_001361359.1:p.Arg680His, NP_001361362.1:p.Arg625Leu, NP_001361362.1:p.Arg625His, XP_011524338.1:p.Val633Phe, XP_011524338.1:p.Val633Ile, XP_011524340.1:p.Val632Phe, XP_011524340.1:p.Val632Ile, XP_011524343.1:p.Val572Phe, XP_011524343.1:p.Val572Ile, XP_011524344.1:p.Val633Phe, XP_011524344.1:p.Val633Ile, XP_011524341.1:p.Arg625Leu, XP_011524341.1:p.Arg625His, XP_011524339.1:p.Val632Phe, XP_011524339.1:p.Val632Ile, XP_016881284.1:p.Val631Phe, XP_016881284.1:p.Val631Ile, XP_047293511.1:p.Arg624Leu, XP_047293511.1:p.Arg624His, XP_047293510.1:p.Arg624Leu, XP_047293510.1:p.Arg624His, XP_047293514.1:p.Arg564Leu, XP_047293514.1:p.Arg564His, XP_047293515.1:p.Arg562Leu, XP_047293515.1:p.Arg562His, XP_047293516.1:p.Arg680Leu, XP_047293516.1:p.Arg680His

                            14.

                            rs1472538742 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              18:49430375 (GRCh38)
                              18:46956745 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:49430374:C:G
                              Gene:
                              DYM (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000018.10:g.49430375C>G, NC_000018.9:g.46956745C>G, NG_009239.2:g.35359G>C, NM_017653.6:c.20G>C, NM_017653.5:c.20G>C, NM_017653.4:c.20G>C, NM_017653.3:c.20G>C, NM_001353214.3:c.20G>C, NM_001353214.2:c.20G>C, NM_001353214.1:c.20G>C, NM_001353213.3:c.20G>C, NM_001353213.2:c.20G>C, NM_001353213.1:c.20G>C, NM_001353212.3:c.20G>C, NM_001353212.2:c.20G>C, NM_001353212.1:c.20G>C, NM_001353211.3:c.20G>C, NM_001353211.2:c.20G>C, NM_001353211.1:c.20G>C, NM_001353210.3:c.20G>C, NM_001353210.2:c.20G>C, NM_001353210.1:c.20G>C, NM_001353215.3:c.20G>C, NM_001353215.2:c.20G>C, NM_001353215.1:c.20G>C, NM_001353216.3:c.20G>C, NM_001353216.2:c.20G>C, NM_001353216.1:c.20G>C, NM_001374428.1:c.20G>C, NM_001374430.1:c.20G>C, NM_001374429.1:c.20G>C, NM_001374433.1:c.20G>C, NM_001374431.1:c.20G>C, NM_001374432.1:c.20G>C, NM_001374434.1:c.20G>C, NM_001374435.1:c.20G>C, NM_001374436.1:c.20G>C, NM_001374437.1:c.20G>C, NM_001374438.1:c.20G>C, NM_001374439.1:c.20G>C, NM_001374440.1:c.20G>C, NM_001374441.1:c.20G>C, NM_001374442.1:c.20G>C, NM_001374443.1:c.20G>C, NM_001374444.1:c.20G>C, XM_006722492.5:c.20G>C, XM_006722492.4:c.20G>C, XM_006722492.3:c.20G>C, XM_006722492.2:c.20G>C, XM_006722492.1:c.20G>C, XM_011526036.3:c.20G>C, XM_011526036.2:c.20G>C, XM_011526036.1:c.20G>C, XM_011526038.3:c.20G>C, XM_011526038.2:c.20G>C, XM_011526038.1:c.20G>C, XM_011526041.3:c.20G>C, XM_011526041.2:c.20G>C, XM_011526041.1:c.20G>C, XM_011526042.3:c.20G>C, XM_011526042.2:c.20G>C, XM_011526042.1:c.20G>C, XM_011526039.3:c.20G>C, XM_011526039.2:c.20G>C, XM_011526039.1:c.20G>C, XM_011526037.2:c.20G>C, XM_011526037.1:c.20G>C, XM_017025795.2:c.20G>C, XM_017025795.1:c.20G>C, XM_047437555.1:c.20G>C, XM_047437554.1:c.20G>C, XM_047437553.1:c.20G>C, XM_047437558.1:c.20G>C, XM_047437559.1:c.20G>C, XM_047437556.1:c.20G>C, XM_047437560.1:c.20G>C, XM_047437557.1:c.20G>C, NP_060123.3:p.Arg7Thr, NP_001340143.1:p.Arg7Thr, NP_001340142.1:p.Arg7Thr, NP_001340141.1:p.Arg7Thr, NP_001340140.1:p.Arg7Thr, NP_001340139.1:p.Arg7Thr, NP_001340144.1:p.Arg7Thr, NP_001340145.1:p.Arg7Thr, NP_001361357.1:p.Arg7Thr, NP_001361359.1:p.Arg7Thr, NP_001361358.1:p.Arg7Thr, NP_001361362.1:p.Arg7Thr, NP_001361360.1:p.Arg7Thr, NP_001361361.1:p.Arg7Thr, NP_001361363.1:p.Arg7Thr, NP_001361364.1:p.Arg7Thr, NP_001361365.1:p.Arg7Thr, NP_001361366.1:p.Arg7Thr, NP_001361367.1:p.Arg7Thr, NP_001361368.1:p.Arg7Thr, NP_001361369.1:p.Arg7Thr, NP_001361370.1:p.Arg7Thr, NP_001361371.1:p.Arg7Thr, NP_001361372.1:p.Arg7Thr, NP_001361373.1:p.Arg7Thr, XP_006722555.1:p.Arg7Thr, XP_011524338.1:p.Arg7Thr, XP_011524340.1:p.Arg7Thr, XP_011524343.1:p.Arg7Thr, XP_011524344.1:p.Arg7Thr, XP_011524341.1:p.Arg7Thr, XP_011524339.1:p.Arg7Thr, XP_016881284.1:p.Arg7Thr, XP_047293511.1:p.Arg7Thr, XP_047293510.1:p.Arg7Thr, XP_047293509.1:p.Arg7Thr, XP_047293514.1:p.Arg7Thr, XP_047293515.1:p.Arg7Thr, XP_047293512.1:p.Arg7Thr, XP_047293516.1:p.Arg7Thr, XP_047293513.1:p.Arg7Thr

                              15.

                              rs1471488189 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                18:49044187 (GRCh38)
                                18:46570557 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:49044186:TTT:TT
                                Gene:
                                DYM (Varview), DYM-AS1 (Varview)
                                Functional Consequence:
                                frameshift_variant,terminator_codon_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Clinical significance:
                                likely-pathogenic,pathogenic
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TT=0./0 (ALFA)
                                -=0.000026/7 (TOPMED)
                                -=0.000032/8 (GnomAD_exomes)
                                HGVS:
                                NC_000018.10:g.49044189del, NC_000018.9:g.46570559del, NG_009239.2:g.421547del, NM_017653.6:c.1878del, NM_017653.5:c.1878del, NM_017653.4:c.1878del, NM_017653.3:c.1878del, NM_001353214.3:c.2043del, NM_001353214.2:c.2043del, NM_001353214.1:c.2043del, NM_001353213.3:c.2040del, NM_001353213.2:c.2040del, NM_001353213.1:c.2040del, NM_001353212.3:c.2040del, NM_001353212.2:c.2040del, NM_001353212.1:c.2040del, NM_001353211.3:c.1875del, NM_001353211.2:c.1875del, NM_001353211.1:c.1875del, NM_001353210.3:c.1875del, NM_001353210.2:c.1875del, NM_001353210.1:c.1875del, NM_001353215.3:c.1860del, NM_001353215.2:c.1860del, NM_001353215.1:c.1860del, NM_001353216.3:c.1695del, NM_001353216.2:c.1695del, NM_001353216.1:c.1695del, NM_001374428.1:c.2043del, NM_001374430.1:c.*2del, NM_001374429.1:c.2037del, NM_001374433.1:c.*2del, NM_001374431.1:c.1929del, NM_001374432.1:c.1917del, NM_001374434.1:c.1764del, NM_001374435.1:c.1761del, NM_001374436.1:c.1752del, NM_001374437.1:c.1695del, NM_001374438.1:c.1692del, NM_001374439.1:c.1689del, NM_001374440.1:c.1650del, NM_001374441.1:c.1473del, NM_001374442.1:c.1308del, NM_001374443.1:c.1305del, NM_001374444.1:c.1125del, XM_011526036.3:c.1996del, XM_011526036.2:c.1996del, XM_011526036.1:c.1996del, XM_011526038.3:c.1993del, XM_011526038.2:c.1993del, XM_011526038.1:c.1993del, XM_011526041.3:c.1813del, XM_011526041.2:c.1813del, XM_011526041.1:c.1813del, XM_011526037.2:c.1993del, XM_011526037.1:c.1993del, XM_017025795.2:c.1990del, XM_017025795.1:c.1990del, XM_047437555.1:c.*2del, XM_047437554.1:c.*2del, XM_047437553.1:c.1872del, XM_047437558.1:c.*2del, XM_047437559.1:c.*2del, XM_047437556.1:c.1692del, NP_060123.3:p.Lys626fs, NP_001340143.1:p.Lys681fs, NP_001340142.1:p.Lys680fs, NP_001340141.1:p.Lys680fs, NP_001340140.1:p.Lys625fs, NP_001340139.1:p.Lys625fs, NP_001340144.1:p.Lys620fs, NP_001340145.1:p.Lys565fs, NP_001361357.1:p.Lys681fs, NP_001361358.1:p.Lys679fs, NP_001361360.1:p.Lys643fs, NP_001361361.1:p.Lys639fs, NP_001361363.1:p.Lys588fs, NP_001361364.1:p.Lys587fs, NP_001361365.1:p.Lys584fs, NP_001361366.1:p.Lys565fs, NP_001361367.1:p.Lys564fs, NP_001361368.1:p.Lys563fs, NP_001361369.1:p.Lys550fs, NP_001361370.1:p.Lys491fs, NP_001361371.1:p.Lys436fs, NP_001361372.1:p.Lys435fs, NP_001361373.1:p.Lys375fs, XP_011524338.1:p.Ile666fs, XP_011524340.1:p.Ile665fs, XP_011524343.1:p.Ile605fs, XP_011524339.1:p.Ile665fs, XP_016881284.1:p.Ile664fs, XP_047293509.1:p.Lys624fs, XP_047293512.1:p.Lys564fs

                                16.

                                rs1469032885 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  18:49286545 (GRCh38)
                                  18:46812915 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:49286544:G:A
                                  Gene:
                                  DYM (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_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_000018.10:g.49286545G>A, NC_000018.9:g.46812915G>A, NG_009239.2:g.179189C>T, NM_017653.6:c.835C>T, NM_017653.5:c.835C>T, NM_017653.4:c.835C>T, NM_017653.3:c.835C>T, NM_001353214.3:c.835C>T, NM_001353214.2:c.835C>T, NM_001353214.1:c.835C>T, NM_001353213.3:c.832C>T, NM_001353213.2:c.832C>T, NM_001353213.1:c.832C>T, NM_001353212.3:c.832C>T, NM_001353212.2:c.832C>T, NM_001353212.1:c.832C>T, NM_001353211.3:c.832C>T, NM_001353211.2:c.832C>T, NM_001353211.1:c.832C>T, NM_001353210.3:c.832C>T, NM_001353210.2:c.832C>T, NM_001353210.1:c.832C>T, NM_001353215.3:c.835C>T, NM_001353215.2:c.835C>T, NM_001353215.1:c.835C>T, NM_001353216.3:c.835C>T, NM_001353216.2:c.835C>T, NM_001353216.1:c.835C>T, NM_001374428.1:c.835C>T, NM_001374430.1:c.835C>T, NM_001374429.1:c.829C>T, NM_001374433.1:c.835C>T, NM_001374431.1:c.835C>T, NM_001374432.1:c.709C>T, NM_001374434.1:c.835C>T, NM_001374435.1:c.832C>T, NM_001374436.1:c.709C>T, NM_001374438.1:c.832C>T, NM_001374439.1:c.829C>T, NM_001374440.1:c.607C>T, NM_001374441.1:c.265C>T, NM_001374442.1:c.265C>T, NM_001374443.1:c.262C>T, NM_001374444.1:c.265C>T, XM_006722492.5:c.835C>T, XM_006722492.4:c.835C>T, XM_006722492.3:c.835C>T, XM_006722492.2:c.835C>T, XM_006722492.1:c.835C>T, XM_011526036.3:c.835C>T, XM_011526036.2:c.835C>T, XM_011526036.1:c.835C>T, XM_011526038.3:c.832C>T, XM_011526038.2:c.832C>T, XM_011526038.1:c.832C>T, XM_011526041.3:c.835C>T, XM_011526041.2:c.835C>T, XM_011526041.1:c.835C>T, XM_011526042.3:c.835C>T, XM_011526042.2:c.835C>T, XM_011526042.1:c.835C>T, XM_011526039.3:c.835C>T, XM_011526039.2:c.835C>T, XM_011526039.1:c.835C>T, XM_011526037.2:c.832C>T, XM_011526037.1:c.832C>T, XM_017025795.2:c.829C>T, XM_017025795.1:c.829C>T, XM_047437555.1:c.832C>T, XM_047437554.1:c.832C>T, XM_047437553.1:c.829C>T, XM_047437558.1:c.835C>T, XM_047437559.1:c.829C>T, XM_047437556.1:c.832C>T, XM_047437560.1:c.835C>T, XM_047437557.1:c.835C>T, NP_060123.3:p.Pro279Ser, NP_001340143.1:p.Pro279Ser, NP_001340142.1:p.Pro278Ser, NP_001340141.1:p.Pro278Ser, NP_001340140.1:p.Pro278Ser, NP_001340139.1:p.Pro278Ser, NP_001340144.1:p.Pro279Ser, NP_001340145.1:p.Pro279Ser, NP_001361357.1:p.Pro279Ser, NP_001361359.1:p.Pro279Ser, NP_001361358.1:p.Pro277Ser, NP_001361362.1:p.Pro279Ser, NP_001361360.1:p.Pro279Ser, NP_001361361.1:p.Pro237Ser, NP_001361363.1:p.Pro279Ser, NP_001361364.1:p.Pro278Ser, NP_001361365.1:p.Pro237Ser, NP_001361367.1:p.Pro278Ser, NP_001361368.1:p.Pro277Ser, NP_001361369.1:p.Pro203Ser, NP_001361370.1:p.Pro89Ser, NP_001361371.1:p.Pro89Ser, NP_001361372.1:p.Pro88Ser, NP_001361373.1:p.Pro89Ser, XP_006722555.1:p.Pro279Ser, XP_011524338.1:p.Pro279Ser, XP_011524340.1:p.Pro278Ser, XP_011524343.1:p.Pro279Ser, XP_011524344.1:p.Pro279Ser, XP_011524341.1:p.Pro279Ser, XP_011524339.1:p.Pro278Ser, XP_016881284.1:p.Pro277Ser, XP_047293511.1:p.Pro278Ser, XP_047293510.1:p.Pro278Ser, XP_047293509.1:p.Pro277Ser, XP_047293514.1:p.Pro279Ser, XP_047293515.1:p.Pro277Ser, XP_047293512.1:p.Pro278Ser, XP_047293516.1:p.Pro279Ser, XP_047293513.1:p.Pro279Ser

                                  17.

                                  rs1468696571 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    18:49378686 (GRCh38)
                                    18:46905056 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:49378685:C:G
                                    Gene:
                                    DYM (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.49378686C>G, NC_000018.9:g.46905056C>G, NG_009239.2:g.87048G>C, NM_017653.6:c.302G>C, NM_017653.5:c.302G>C, NM_017653.4:c.302G>C, NM_017653.3:c.302G>C, NM_001353214.3:c.302G>C, NM_001353214.2:c.302G>C, NM_001353214.1:c.302G>C, NM_001353213.3:c.302G>C, NM_001353213.2:c.302G>C, NM_001353213.1:c.302G>C, NM_001353212.3:c.299G>C, NM_001353212.2:c.299G>C, NM_001353212.1:c.299G>C, NM_001353211.3:c.299G>C, NM_001353211.2:c.299G>C, NM_001353211.1:c.299G>C, NM_001353210.3:c.302G>C, NM_001353210.2:c.302G>C, NM_001353210.1:c.302G>C, NM_001353215.3:c.302G>C, NM_001353215.2:c.302G>C, NM_001353215.1:c.302G>C, NM_001353216.3:c.302G>C, NM_001353216.2:c.302G>C, NM_001353216.1:c.302G>C, NM_001374428.1:c.302G>C, NM_001374430.1:c.302G>C, NM_001374429.1:c.299G>C, NM_001374433.1:c.302G>C, NM_001374431.1:c.302G>C, NM_001374432.1:c.302G>C, NM_001374434.1:c.302G>C, NM_001374435.1:c.302G>C, NM_001374436.1:c.302G>C, NM_001374437.1:c.302G>C, NM_001374438.1:c.302G>C, NM_001374439.1:c.299G>C, XM_006722492.5:c.302G>C, XM_006722492.4:c.302G>C, XM_006722492.3:c.302G>C, XM_006722492.2:c.302G>C, XM_006722492.1:c.302G>C, XM_011526036.3:c.302G>C, XM_011526036.2:c.302G>C, XM_011526036.1:c.302G>C, XM_011526038.3:c.302G>C, XM_011526038.2:c.302G>C, XM_011526038.1:c.302G>C, XM_011526041.3:c.302G>C, XM_011526041.2:c.302G>C, XM_011526041.1:c.302G>C, XM_011526042.3:c.302G>C, XM_011526042.2:c.302G>C, XM_011526042.1:c.302G>C, XM_011526039.3:c.302G>C, XM_011526039.2:c.302G>C, XM_011526039.1:c.302G>C, XM_011526037.2:c.299G>C, XM_011526037.1:c.299G>C, XM_017025795.2:c.299G>C, XM_017025795.1:c.299G>C, XM_047437555.1:c.302G>C, XM_047437554.1:c.299G>C, XM_047437553.1:c.299G>C, XM_047437558.1:c.302G>C, XM_047437559.1:c.299G>C, XM_047437556.1:c.299G>C, XM_047437560.1:c.302G>C, XM_047437557.1:c.302G>C, NP_060123.3:p.Trp101Ser, NP_001340143.1:p.Trp101Ser, NP_001340142.1:p.Trp101Ser, NP_001340141.1:p.Trp100Ser, NP_001340140.1:p.Trp100Ser, NP_001340139.1:p.Trp101Ser, NP_001340144.1:p.Trp101Ser, NP_001340145.1:p.Trp101Ser, NP_001361357.1:p.Trp101Ser, NP_001361359.1:p.Trp101Ser, NP_001361358.1:p.Trp100Ser, NP_001361362.1:p.Trp101Ser, NP_001361360.1:p.Trp101Ser, NP_001361361.1:p.Trp101Ser, NP_001361363.1:p.Trp101Ser, NP_001361364.1:p.Trp101Ser, NP_001361365.1:p.Trp101Ser, NP_001361366.1:p.Trp101Ser, NP_001361367.1:p.Trp101Ser, NP_001361368.1:p.Trp100Ser, XP_006722555.1:p.Trp101Ser, XP_011524338.1:p.Trp101Ser, XP_011524340.1:p.Trp101Ser, XP_011524343.1:p.Trp101Ser, XP_011524344.1:p.Trp101Ser, XP_011524341.1:p.Trp101Ser, XP_011524339.1:p.Trp100Ser, XP_016881284.1:p.Trp100Ser, XP_047293511.1:p.Trp101Ser, XP_047293510.1:p.Trp100Ser, XP_047293509.1:p.Trp100Ser, XP_047293514.1:p.Trp101Ser, XP_047293515.1:p.Trp100Ser, XP_047293512.1:p.Trp100Ser, XP_047293516.1:p.Trp101Ser, XP_047293513.1:p.Trp101Ser

                                    18.

                                    rs1464851711 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      18:49043999 (GRCh38)
                                      18:46570369 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:49043998:A:C
                                      Gene:
                                      DYM (Varview), DYM-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000018.10:g.49043999A>C, NC_000018.9:g.46570369A>C, NG_009239.2:g.421735T>G, NM_017653.6:c.*56T>G, NM_017653.5:c.*56T>G, NM_017653.4:c.*56T>G, NM_017653.3:c.*56T>G, NM_001353214.3:c.*56T>G, NM_001353214.2:c.*56T>G, NM_001353214.1:c.*56T>G, NM_001353213.3:c.*56T>G, NM_001353213.2:c.*56T>G, NM_001353213.1:c.*56T>G, NM_001353212.3:c.*56T>G, NM_001353212.2:c.*56T>G, NM_001353212.1:c.*56T>G, NM_001353211.3:c.*56T>G, NM_001353211.2:c.*56T>G, NM_001353211.1:c.*56T>G, NM_001353210.3:c.*56T>G, NM_001353210.2:c.*56T>G, NM_001353210.1:c.*56T>G, NM_001353215.3:c.*56T>G, NM_001353215.2:c.*56T>G, NM_001353215.1:c.*56T>G, NM_001353216.3:c.*56T>G, NM_001353216.2:c.*56T>G, NM_001353216.1:c.*56T>G, NM_001374428.1:c.*56T>G, NM_001374430.1:c.*190T>G, NM_001374429.1:c.*56T>G, NM_001374433.1:c.*190T>G, NM_001374431.1:c.*56T>G, NM_001374432.1:c.*56T>G, NM_001374434.1:c.*56T>G, NM_001374435.1:c.*56T>G, NM_001374436.1:c.*56T>G, NM_001374437.1:c.*56T>G, NM_001374438.1:c.*56T>G, NM_001374439.1:c.*56T>G, NM_001374440.1:c.*56T>G, NM_001374441.1:c.*56T>G, NM_001374442.1:c.*56T>G, NM_001374443.1:c.*56T>G, NM_001374444.1:c.*56T>G, XM_011526036.3:c.2184T>G, XM_011526036.2:c.2184T>G, XM_011526036.1:c.2184T>G, XM_011526038.3:c.2181T>G, XM_011526038.2:c.2181T>G, XM_011526038.1:c.2181T>G, XM_011526041.3:c.2001T>G, XM_011526041.2:c.2001T>G, XM_011526041.1:c.2001T>G, XM_011526037.2:c.2181T>G, XM_011526037.1:c.2181T>G, XM_017025795.2:c.2178T>G, XM_017025795.1:c.2178T>G, XM_047437555.1:c.*190T>G, XM_047437554.1:c.*190T>G, XM_047437553.1:c.*56T>G, XM_047437558.1:c.*190T>G, XM_047437559.1:c.*190T>G, XM_047437556.1:c.*56T>G, XP_011524338.1:p.Phe728Leu, XP_011524340.1:p.Phe727Leu, XP_011524343.1:p.Phe667Leu, XP_011524339.1:p.Phe727Leu, XP_016881284.1:p.Phe726Leu

                                      19.

                                      rs1463719229 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        18:49430257 (GRCh38)
                                        18:46956627 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:49430256:G:T
                                        Gene:
                                        DYM (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.49430257G>T, NC_000018.9:g.46956627G>T, NG_009239.2:g.35477C>A, NM_017653.6:c.138C>A, NM_017653.5:c.138C>A, NM_017653.4:c.138C>A, NM_017653.3:c.138C>A, NM_001353214.3:c.138C>A, NM_001353214.2:c.138C>A, NM_001353214.1:c.138C>A, NM_001353213.3:c.138C>A, NM_001353213.2:c.138C>A, NM_001353213.1:c.138C>A, NM_001353212.3:c.138C>A, NM_001353212.2:c.138C>A, NM_001353212.1:c.138C>A, NM_001353211.3:c.138C>A, NM_001353211.2:c.138C>A, NM_001353211.1:c.138C>A, NM_001353210.3:c.138C>A, NM_001353210.2:c.138C>A, NM_001353210.1:c.138C>A, NM_001353215.3:c.138C>A, NM_001353215.2:c.138C>A, NM_001353215.1:c.138C>A, NM_001353216.3:c.138C>A, NM_001353216.2:c.138C>A, NM_001353216.1:c.138C>A, NM_001374428.1:c.138C>A, NM_001374430.1:c.138C>A, NM_001374429.1:c.138C>A, NM_001374433.1:c.138C>A, NM_001374431.1:c.138C>A, NM_001374432.1:c.138C>A, NM_001374434.1:c.138C>A, NM_001374435.1:c.138C>A, NM_001374436.1:c.138C>A, NM_001374437.1:c.138C>A, NM_001374438.1:c.138C>A, NM_001374439.1:c.138C>A, NM_001374440.1:c.138C>A, NM_001374441.1:c.138C>A, NM_001374442.1:c.138C>A, NM_001374443.1:c.138C>A, NM_001374444.1:c.138C>A, XM_006722492.5:c.138C>A, XM_006722492.4:c.138C>A, XM_006722492.3:c.138C>A, XM_006722492.2:c.138C>A, XM_006722492.1:c.138C>A, XM_011526036.3:c.138C>A, XM_011526036.2:c.138C>A, XM_011526036.1:c.138C>A, XM_011526038.3:c.138C>A, XM_011526038.2:c.138C>A, XM_011526038.1:c.138C>A, XM_011526041.3:c.138C>A, XM_011526041.2:c.138C>A, XM_011526041.1:c.138C>A, XM_011526042.3:c.138C>A, XM_011526042.2:c.138C>A, XM_011526042.1:c.138C>A, XM_011526039.3:c.138C>A, XM_011526039.2:c.138C>A, XM_011526039.1:c.138C>A, XM_011526037.2:c.138C>A, XM_011526037.1:c.138C>A, XM_017025795.2:c.138C>A, XM_017025795.1:c.138C>A, XM_047437555.1:c.138C>A, XM_047437554.1:c.138C>A, XM_047437553.1:c.138C>A, XM_047437558.1:c.138C>A, XM_047437559.1:c.138C>A, XM_047437556.1:c.138C>A, XM_047437560.1:c.138C>A, XM_047437557.1:c.138C>A, NP_060123.3:p.Ser46Arg, NP_001340143.1:p.Ser46Arg, NP_001340142.1:p.Ser46Arg, NP_001340141.1:p.Ser46Arg, NP_001340140.1:p.Ser46Arg, NP_001340139.1:p.Ser46Arg, NP_001340144.1:p.Ser46Arg, NP_001340145.1:p.Ser46Arg, NP_001361357.1:p.Ser46Arg, NP_001361359.1:p.Ser46Arg, NP_001361358.1:p.Ser46Arg, NP_001361362.1:p.Ser46Arg, NP_001361360.1:p.Ser46Arg, NP_001361361.1:p.Ser46Arg, NP_001361363.1:p.Ser46Arg, NP_001361364.1:p.Ser46Arg, NP_001361365.1:p.Ser46Arg, NP_001361366.1:p.Ser46Arg, NP_001361367.1:p.Ser46Arg, NP_001361368.1:p.Ser46Arg, NP_001361369.1:p.Ser46Arg, NP_001361370.1:p.Ser46Arg, NP_001361371.1:p.Ser46Arg, NP_001361372.1:p.Ser46Arg, NP_001361373.1:p.Ser46Arg, XP_006722555.1:p.Ser46Arg, XP_011524338.1:p.Ser46Arg, XP_011524340.1:p.Ser46Arg, XP_011524343.1:p.Ser46Arg, XP_011524344.1:p.Ser46Arg, XP_011524341.1:p.Ser46Arg, XP_011524339.1:p.Ser46Arg, XP_016881284.1:p.Ser46Arg, XP_047293511.1:p.Ser46Arg, XP_047293510.1:p.Ser46Arg, XP_047293509.1:p.Ser46Arg, XP_047293514.1:p.Ser46Arg, XP_047293515.1:p.Ser46Arg, XP_047293512.1:p.Ser46Arg, XP_047293516.1:p.Ser46Arg, XP_047293513.1:p.Ser46Arg

                                        20.

                                        rs1463473433 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          18:49430260 (GRCh38)
                                          18:46956630 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:49430259:A:G
                                          Gene:
                                          DYM (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.49430260A>G, NC_000018.9:g.46956630A>G, NG_009239.2:g.35474T>C, NM_017653.6:c.135T>C, NM_017653.5:c.135T>C, NM_017653.4:c.135T>C, NM_017653.3:c.135T>C, NM_001353214.3:c.135T>C, NM_001353214.2:c.135T>C, NM_001353214.1:c.135T>C, NM_001353213.3:c.135T>C, NM_001353213.2:c.135T>C, NM_001353213.1:c.135T>C, NM_001353212.3:c.135T>C, NM_001353212.2:c.135T>C, NM_001353212.1:c.135T>C, NM_001353211.3:c.135T>C, NM_001353211.2:c.135T>C, NM_001353211.1:c.135T>C, NM_001353210.3:c.135T>C, NM_001353210.2:c.135T>C, NM_001353210.1:c.135T>C, NM_001353215.3:c.135T>C, NM_001353215.2:c.135T>C, NM_001353215.1:c.135T>C, NM_001353216.3:c.135T>C, NM_001353216.2:c.135T>C, NM_001353216.1:c.135T>C, NM_001374428.1:c.135T>C, NM_001374430.1:c.135T>C, NM_001374429.1:c.135T>C, NM_001374433.1:c.135T>C, NM_001374431.1:c.135T>C, NM_001374432.1:c.135T>C, NM_001374434.1:c.135T>C, NM_001374435.1:c.135T>C, NM_001374436.1:c.135T>C, NM_001374437.1:c.135T>C, NM_001374438.1:c.135T>C, NM_001374439.1:c.135T>C, NM_001374440.1:c.135T>C, NM_001374441.1:c.135T>C, NM_001374442.1:c.135T>C, NM_001374443.1:c.135T>C, NM_001374444.1:c.135T>C, XM_006722492.5:c.135T>C, XM_006722492.4:c.135T>C, XM_006722492.3:c.135T>C, XM_006722492.2:c.135T>C, XM_006722492.1:c.135T>C, XM_011526036.3:c.135T>C, XM_011526036.2:c.135T>C, XM_011526036.1:c.135T>C, XM_011526038.3:c.135T>C, XM_011526038.2:c.135T>C, XM_011526038.1:c.135T>C, XM_011526041.3:c.135T>C, XM_011526041.2:c.135T>C, XM_011526041.1:c.135T>C, XM_011526042.3:c.135T>C, XM_011526042.2:c.135T>C, XM_011526042.1:c.135T>C, XM_011526039.3:c.135T>C, XM_011526039.2:c.135T>C, XM_011526039.1:c.135T>C, XM_011526037.2:c.135T>C, XM_011526037.1:c.135T>C, XM_017025795.2:c.135T>C, XM_017025795.1:c.135T>C, XM_047437555.1:c.135T>C, XM_047437554.1:c.135T>C, XM_047437553.1:c.135T>C, XM_047437558.1:c.135T>C, XM_047437559.1:c.135T>C, XM_047437556.1:c.135T>C, XM_047437560.1:c.135T>C, XM_047437557.1:c.135T>C

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