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Items: 1 to 20 of 655

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.

    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

      3.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              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

                8.

                rs1477661405 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  18:49092577 (GRCh38)
                  18:46618947 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:49092576:C:T
                  Gene:
                  DYM (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  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

                    10.

                    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

                      11.

                      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

                        12.

                        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

                          13.

                          rs1469887394 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            18:49118897 (GRCh38)
                            18:46645267 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:49118896:C:A
                            Gene:
                            DYM (Varview)
                            Functional Consequence:
                            synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000018.10:g.49118897C>A, NC_000018.9:g.46645267C>A, NG_009239.2:g.346837G>T, NM_017653.6:c.1593G>T, NM_017653.5:c.1593G>T, NM_017653.4:c.1593G>T, NM_017653.3:c.1593G>T, NM_001353214.3:c.1758G>T, NM_001353214.2:c.1758G>T, NM_001353214.1:c.1758G>T, NM_001353213.3:c.1755G>T, NM_001353213.2:c.1755G>T, NM_001353213.1:c.1755G>T, NM_001353212.3:c.1755G>T, NM_001353212.2:c.1755G>T, NM_001353212.1:c.1755G>T, NM_001353211.3:c.1590G>T, NM_001353211.2:c.1590G>T, NM_001353211.1:c.1590G>T, NM_001353210.3:c.1590G>T, NM_001353210.2:c.1590G>T, NM_001353210.1:c.1590G>T, NM_001374428.1:c.1758G>T, NM_001374430.1:c.1758G>T, NM_001374429.1:c.1752G>T, NM_001374433.1:c.1593G>T, NM_001374431.1:c.1758G>T, NM_001374432.1:c.1632G>T, NM_001374434.1:c.1593G>T, NM_001374435.1:c.1590G>T, NM_001374436.1:c.1467G>T, NM_001374437.1:c.1410G>T, NM_001374440.1:c.1365G>T, NM_001374441.1:c.1188G>T, NM_001374442.1:c.1023G>T, NM_001374443.1:c.1020G>T, XM_011526036.3:c.1593G>T, XM_011526036.2:c.1593G>T, XM_011526036.1:c.1593G>T, XM_011526038.3:c.1590G>T, XM_011526038.2:c.1590G>T, XM_011526038.1:c.1590G>T, XM_011526042.3:c.1593G>T, XM_011526042.2:c.1593G>T, XM_011526042.1:c.1593G>T, XM_011526039.3:c.1593G>T, XM_011526039.2:c.1593G>T, XM_011526039.1:c.1593G>T, XM_011526037.2:c.1590G>T, XM_011526037.1:c.1590G>T, XM_017025795.2:c.1587G>T, XM_017025795.1:c.1587G>T, XM_047437555.1:c.1590G>T, XM_047437554.1:c.1590G>T, XM_047437553.1:c.1587G>T, XM_047437560.1:c.1758G>T, XM_047437557.1:c.1593G>T

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  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

                                    18.

                                    rs1461661004 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      18:49379700 (GRCh38)
                                      18:46906070 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:49379699:T:C
                                      Gene:
                                      DYM (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000018.10:g.49379700T>C, NC_000018.9:g.46906070T>C, NG_009239.2:g.86034A>G, NM_017653.6:c.252A>G, NM_017653.5:c.252A>G, NM_017653.4:c.252A>G, NM_017653.3:c.252A>G, NM_001353214.3:c.252A>G, NM_001353214.2:c.252A>G, NM_001353214.1:c.252A>G, NM_001353213.3:c.252A>G, NM_001353213.2:c.252A>G, NM_001353213.1:c.252A>G, NM_001353212.3:c.249A>G, NM_001353212.2:c.249A>G, NM_001353212.1:c.249A>G, NM_001353211.3:c.249A>G, NM_001353211.2:c.249A>G, NM_001353211.1:c.249A>G, NM_001353210.3:c.252A>G, NM_001353210.2:c.252A>G, NM_001353210.1:c.252A>G, NM_001353215.3:c.252A>G, NM_001353215.2:c.252A>G, NM_001353215.1:c.252A>G, NM_001353216.3:c.252A>G, NM_001353216.2:c.252A>G, NM_001353216.1:c.252A>G, NM_001374428.1:c.252A>G, NM_001374430.1:c.252A>G, NM_001374429.1:c.249A>G, NM_001374433.1:c.252A>G, NM_001374431.1:c.252A>G, NM_001374432.1:c.252A>G, NM_001374434.1:c.252A>G, NM_001374435.1:c.252A>G, NM_001374436.1:c.252A>G, NM_001374437.1:c.252A>G, NM_001374438.1:c.252A>G, NM_001374439.1:c.249A>G, XM_006722492.5:c.252A>G, XM_006722492.4:c.252A>G, XM_006722492.3:c.252A>G, XM_006722492.2:c.252A>G, XM_006722492.1:c.252A>G, XM_011526036.3:c.252A>G, XM_011526036.2:c.252A>G, XM_011526036.1:c.252A>G, XM_011526038.3:c.252A>G, XM_011526038.2:c.252A>G, XM_011526038.1:c.252A>G, XM_011526041.3:c.252A>G, XM_011526041.2:c.252A>G, XM_011526041.1:c.252A>G, XM_011526042.3:c.252A>G, XM_011526042.2:c.252A>G, XM_011526042.1:c.252A>G, XM_011526039.3:c.252A>G, XM_011526039.2:c.252A>G, XM_011526039.1:c.252A>G, XM_011526037.2:c.249A>G, XM_011526037.1:c.249A>G, XM_017025795.2:c.249A>G, XM_017025795.1:c.249A>G, XM_047437555.1:c.252A>G, XM_047437554.1:c.249A>G, XM_047437553.1:c.249A>G, XM_047437558.1:c.252A>G, XM_047437559.1:c.249A>G, XM_047437556.1:c.249A>G, XM_047437560.1:c.252A>G, XM_047437557.1:c.252A>G

                                      19.

                                      rs1456702853 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        18:49118826 (GRCh38)
                                        18:46645196 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:49118825:T:C
                                        Gene:
                                        DYM (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000018.10:g.49118826T>C, NC_000018.9:g.46645196T>C, NG_009239.2:g.346908A>G, NM_017653.6:c.1664A>G, NM_017653.5:c.1664A>G, NM_017653.4:c.1664A>G, NM_017653.3:c.1664A>G, NM_001353214.3:c.1829A>G, NM_001353214.2:c.1829A>G, NM_001353214.1:c.1829A>G, NM_001353213.3:c.1826A>G, NM_001353213.2:c.1826A>G, NM_001353213.1:c.1826A>G, NM_001353212.3:c.1826A>G, NM_001353212.2:c.1826A>G, NM_001353212.1:c.1826A>G, NM_001353211.3:c.1661A>G, NM_001353211.2:c.1661A>G, NM_001353211.1:c.1661A>G, NM_001353210.3:c.1661A>G, NM_001353210.2:c.1661A>G, NM_001353210.1:c.1661A>G, NM_001374428.1:c.1829A>G, NM_001374430.1:c.1829A>G, NM_001374429.1:c.1823A>G, NM_001374433.1:c.1664A>G, NM_001374431.1:c.1829A>G, NM_001374432.1:c.1703A>G, NM_001374434.1:c.1664A>G, NM_001374435.1:c.1661A>G, NM_001374436.1:c.1538A>G, NM_001374437.1:c.1481A>G, NM_001374440.1:c.1436A>G, NM_001374441.1:c.1259A>G, NM_001374442.1:c.1094A>G, NM_001374443.1:c.1091A>G, XM_011526036.3:c.1664A>G, XM_011526036.2:c.1664A>G, XM_011526036.1:c.1664A>G, XM_011526038.3:c.1661A>G, XM_011526038.2:c.1661A>G, XM_011526038.1:c.1661A>G, XM_011526042.3:c.1664A>G, XM_011526042.2:c.1664A>G, XM_011526042.1:c.1664A>G, XM_011526039.3:c.1664A>G, XM_011526039.2:c.1664A>G, XM_011526039.1:c.1664A>G, XM_011526037.2:c.1661A>G, XM_011526037.1:c.1661A>G, XM_017025795.2:c.1658A>G, XM_017025795.1:c.1658A>G, XM_047437555.1:c.1661A>G, XM_047437554.1:c.1661A>G, XM_047437553.1:c.1658A>G, XM_047437560.1:c.1829A>G, XM_047437557.1:c.1664A>G, NP_060123.3:p.Tyr555Cys, NP_001340143.1:p.Tyr610Cys, NP_001340142.1:p.Tyr609Cys, NP_001340141.1:p.Tyr609Cys, NP_001340140.1:p.Tyr554Cys, NP_001340139.1:p.Tyr554Cys, NP_001361357.1:p.Tyr610Cys, NP_001361359.1:p.Tyr610Cys, NP_001361358.1:p.Tyr608Cys, NP_001361362.1:p.Tyr555Cys, NP_001361360.1:p.Tyr610Cys, NP_001361361.1:p.Tyr568Cys, NP_001361363.1:p.Tyr555Cys, NP_001361364.1:p.Tyr554Cys, NP_001361365.1:p.Tyr513Cys, NP_001361366.1:p.Tyr494Cys, NP_001361369.1:p.Tyr479Cys, NP_001361370.1:p.Tyr420Cys, NP_001361371.1:p.Tyr365Cys, NP_001361372.1:p.Tyr364Cys, XP_011524338.1:p.Tyr555Cys, XP_011524340.1:p.Tyr554Cys, XP_011524344.1:p.Tyr555Cys, XP_011524341.1:p.Tyr555Cys, XP_011524339.1:p.Tyr554Cys, XP_016881284.1:p.Tyr553Cys, XP_047293511.1:p.Tyr554Cys, XP_047293510.1:p.Tyr554Cys, XP_047293509.1:p.Tyr553Cys, XP_047293516.1:p.Tyr610Cys, XP_047293513.1:p.Tyr555Cys

                                        20.

                                        rs1455969623 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          18:49391623 (GRCh38)
                                          18:46917993 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:49391622:C:G,NC_000018.10:49391622:C:T
                                          Gene:
                                          DYM (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.49391623C>G, NC_000018.10:g.49391623C>T, NC_000018.9:g.46917993C>G, NC_000018.9:g.46917993C>T, NG_009239.2:g.74111G>C, NG_009239.2:g.74111G>A, NM_017653.6:c.163G>C, NM_017653.6:c.163G>A, NM_017653.5:c.163G>C, NM_017653.5:c.163G>A, NM_017653.4:c.163G>C, NM_017653.4:c.163G>A, NM_017653.3:c.163G>C, NM_017653.3:c.163G>A, NM_001353214.3:c.163G>C, NM_001353214.3:c.163G>A, NM_001353214.2:c.163G>C, NM_001353214.2:c.163G>A, NM_001353214.1:c.163G>C, NM_001353214.1:c.163G>A, NM_001353213.3:c.163G>C, NM_001353213.3:c.163G>A, NM_001353213.2:c.163G>C, NM_001353213.2:c.163G>A, NM_001353213.1:c.163G>C, NM_001353213.1:c.163G>A, NM_001353212.3:c.160G>C, NM_001353212.3:c.160G>A, NM_001353212.2:c.160G>C, NM_001353212.2:c.160G>A, NM_001353212.1:c.160G>C, NM_001353212.1:c.160G>A, NM_001353211.3:c.160G>C, NM_001353211.3:c.160G>A, NM_001353211.2:c.160G>C, NM_001353211.2:c.160G>A, NM_001353211.1:c.160G>C, NM_001353211.1:c.160G>A, NM_001353210.3:c.163G>C, NM_001353210.3:c.163G>A, NM_001353210.2:c.163G>C, NM_001353210.2:c.163G>A, NM_001353210.1:c.163G>C, NM_001353210.1:c.163G>A, NM_001353215.3:c.163G>C, NM_001353215.3:c.163G>A, NM_001353215.2:c.163G>C, NM_001353215.2:c.163G>A, NM_001353215.1:c.163G>C, NM_001353215.1:c.163G>A, NM_001353216.3:c.163G>C, NM_001353216.3:c.163G>A, NM_001353216.2:c.163G>C, NM_001353216.2:c.163G>A, NM_001353216.1:c.163G>C, NM_001353216.1:c.163G>A, NM_001374428.1:c.163G>C, NM_001374428.1:c.163G>A, NM_001374430.1:c.163G>C, NM_001374430.1:c.163G>A, NM_001374429.1:c.160G>C, NM_001374429.1:c.160G>A, NM_001374433.1:c.163G>C, NM_001374433.1:c.163G>A, NM_001374431.1:c.163G>C, NM_001374431.1:c.163G>A, NM_001374432.1:c.163G>C, NM_001374432.1:c.163G>A, NM_001374434.1:c.163G>C, NM_001374434.1:c.163G>A, NM_001374435.1:c.163G>C, NM_001374435.1:c.163G>A, NM_001374436.1:c.163G>C, NM_001374436.1:c.163G>A, NM_001374437.1:c.163G>C, NM_001374437.1:c.163G>A, NM_001374438.1:c.163G>C, NM_001374438.1:c.163G>A, NM_001374439.1:c.160G>C, NM_001374439.1:c.160G>A, NM_001374440.1:c.163G>C, NM_001374440.1:c.163G>A, NM_001374441.1:c.163G>C, NM_001374441.1:c.163G>A, NM_001374442.1:c.163G>C, NM_001374442.1:c.163G>A, NM_001374443.1:c.163G>C, NM_001374443.1:c.163G>A, NM_001374444.1:c.163G>C, NM_001374444.1:c.163G>A, XM_006722492.5:c.163G>C, XM_006722492.5:c.163G>A, XM_006722492.4:c.163G>C, XM_006722492.4:c.163G>A, XM_006722492.3:c.163G>C, XM_006722492.3:c.163G>A, XM_006722492.2:c.163G>C, XM_006722492.2:c.163G>A, XM_006722492.1:c.163G>C, XM_006722492.1:c.163G>A, XM_011526036.3:c.163G>C, XM_011526036.3:c.163G>A, XM_011526036.2:c.163G>C, XM_011526036.2:c.163G>A, XM_011526036.1:c.163G>C, XM_011526036.1:c.163G>A, XM_011526038.3:c.163G>C, XM_011526038.3:c.163G>A, XM_011526038.2:c.163G>C, XM_011526038.2:c.163G>A, XM_011526038.1:c.163G>C, XM_011526038.1:c.163G>A, XM_011526041.3:c.163G>C, XM_011526041.3:c.163G>A, XM_011526041.2:c.163G>C, XM_011526041.2:c.163G>A, XM_011526041.1:c.163G>C, XM_011526041.1:c.163G>A, XM_011526042.3:c.163G>C, XM_011526042.3:c.163G>A, XM_011526042.2:c.163G>C, XM_011526042.2:c.163G>A, XM_011526042.1:c.163G>C, XM_011526042.1:c.163G>A, XM_011526039.3:c.163G>C, XM_011526039.3:c.163G>A, XM_011526039.2:c.163G>C, XM_011526039.2:c.163G>A, XM_011526039.1:c.163G>C, XM_011526039.1:c.163G>A, XM_011526037.2:c.160G>C, XM_011526037.2:c.160G>A, XM_011526037.1:c.160G>C, XM_011526037.1:c.160G>A, XM_017025795.2:c.160G>C, XM_017025795.2:c.160G>A, XM_017025795.1:c.160G>C, XM_017025795.1:c.160G>A, XM_047437555.1:c.163G>C, XM_047437555.1:c.163G>A, XM_047437554.1:c.160G>C, XM_047437554.1:c.160G>A, XM_047437553.1:c.160G>C, XM_047437553.1:c.160G>A, XM_047437558.1:c.163G>C, XM_047437558.1:c.163G>A, XM_047437559.1:c.160G>C, XM_047437559.1:c.160G>A, XM_047437556.1:c.160G>C, XM_047437556.1:c.160G>A, XM_047437560.1:c.163G>C, XM_047437560.1:c.163G>A, XM_047437557.1:c.163G>C, XM_047437557.1:c.163G>A, NP_060123.3:p.Glu55Gln, NP_060123.3:p.Glu55Lys, NP_001340143.1:p.Glu55Gln, NP_001340143.1:p.Glu55Lys, NP_001340142.1:p.Glu55Gln, NP_001340142.1:p.Glu55Lys, NP_001340141.1:p.Glu54Gln, NP_001340141.1:p.Glu54Lys, NP_001340140.1:p.Glu54Gln, NP_001340140.1:p.Glu54Lys, NP_001340139.1:p.Glu55Gln, NP_001340139.1:p.Glu55Lys, NP_001340144.1:p.Glu55Gln, NP_001340144.1:p.Glu55Lys, NP_001340145.1:p.Glu55Gln, NP_001340145.1:p.Glu55Lys, NP_001361357.1:p.Glu55Gln, NP_001361357.1:p.Glu55Lys, NP_001361359.1:p.Glu55Gln, NP_001361359.1:p.Glu55Lys, NP_001361358.1:p.Glu54Gln, NP_001361358.1:p.Glu54Lys, NP_001361362.1:p.Glu55Gln, NP_001361362.1:p.Glu55Lys, NP_001361360.1:p.Glu55Gln, NP_001361360.1:p.Glu55Lys, NP_001361361.1:p.Glu55Gln, NP_001361361.1:p.Glu55Lys, NP_001361363.1:p.Glu55Gln, NP_001361363.1:p.Glu55Lys, NP_001361364.1:p.Glu55Gln, NP_001361364.1:p.Glu55Lys, NP_001361365.1:p.Glu55Gln, NP_001361365.1:p.Glu55Lys, NP_001361366.1:p.Glu55Gln, NP_001361366.1:p.Glu55Lys, NP_001361367.1:p.Glu55Gln, NP_001361367.1:p.Glu55Lys, NP_001361368.1:p.Glu54Gln, NP_001361368.1:p.Glu54Lys, NP_001361369.1:p.Glu55Gln, NP_001361369.1:p.Glu55Lys, NP_001361370.1:p.Glu55Gln, NP_001361370.1:p.Glu55Lys, NP_001361371.1:p.Glu55Gln, NP_001361371.1:p.Glu55Lys, NP_001361372.1:p.Glu55Gln, NP_001361372.1:p.Glu55Lys, NP_001361373.1:p.Glu55Gln, NP_001361373.1:p.Glu55Lys, XP_006722555.1:p.Glu55Gln, XP_006722555.1:p.Glu55Lys, XP_011524338.1:p.Glu55Gln, XP_011524338.1:p.Glu55Lys, XP_011524340.1:p.Glu55Gln, XP_011524340.1:p.Glu55Lys, XP_011524343.1:p.Glu55Gln, XP_011524343.1:p.Glu55Lys, XP_011524344.1:p.Glu55Gln, XP_011524344.1:p.Glu55Lys, XP_011524341.1:p.Glu55Gln, XP_011524341.1:p.Glu55Lys, XP_011524339.1:p.Glu54Gln, XP_011524339.1:p.Glu54Lys, XP_016881284.1:p.Glu54Gln, XP_016881284.1:p.Glu54Lys, XP_047293511.1:p.Glu55Gln, XP_047293511.1:p.Glu55Lys, XP_047293510.1:p.Glu54Gln, XP_047293510.1:p.Glu54Lys, XP_047293509.1:p.Glu54Gln, XP_047293509.1:p.Glu54Lys, XP_047293514.1:p.Glu55Gln, XP_047293514.1:p.Glu55Lys, XP_047293515.1:p.Glu54Gln, XP_047293515.1:p.Glu54Lys, XP_047293512.1:p.Glu54Gln, XP_047293512.1:p.Glu54Lys, XP_047293516.1:p.Glu55Gln, XP_047293516.1:p.Glu55Lys, XP_047293513.1:p.Glu55Gln, XP_047293513.1:p.Glu55Lys

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