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Items: 1 to 20 of 967

1.

rs1490212601 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:54460785 (GRCh38)
    19:54971965 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54460784:G:A
    Gene:
    LENG8 (Varview)
    Functional Consequence:
    missense_variant,3_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/1 (GnomAD)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000019.10:g.54460785G>A, NW_004166865.1:g.435152G>A, NT_187693.1:g.443079G>A, NC_000019.9:g.54971965G>A, NW_003571060.1:g.365473G>A, NW_003571054.1:g.367299G>A, XM_005278250.6:c.*1879G>A, XM_005278250.5:c.*1879G>A, XM_005278250.4:c.*1879G>A, XM_005278250.1:c.*1879G>A, XM_005278252.6:c.*1879G>A, XM_005278252.5:c.*1879G>A, XM_005278252.4:c.*1879G>A, XM_005278252.1:c.*1879G>A, XM_006722997.5:c.*1879G>A, XM_006722997.4:c.*1879G>A, XM_006722997.3:c.*1879G>A, XM_011526414.4:c.*1879G>A, XM_011526414.3:c.*1879G>A, XM_011526414.2:c.*1879G>A, NM_052925.4:c.2260G>A, NM_052925.3:c.2260G>A, NM_052925.2:c.2260G>A, XM_011526415.4:c.2260G>A, XM_011526415.3:c.2260G>A, XM_011526415.2:c.2260G>A, XM_011526415.1:c.2260G>A, NM_001375638.1:c.*1879G>A, NM_001375641.1:c.*1879G>A, NM_001375640.1:c.*1879G>A, NM_001375639.1:c.*1879G>A, XM_047438123.1:c.*1879G>A, NM_001411063.1:c.*1879G>A, XM_047438124.1:c.2260G>A, XM_047438126.1:c.2149G>A, XM_047438125.1:c.2149G>A, XM_047438127.1:c.2149G>A, NP_443157.1:p.Val754Ile, XP_011524717.1:p.Val754Ile, XP_047294080.1:p.Val754Ile, XP_047294082.1:p.Val717Ile, XP_047294081.1:p.Val717Ile, XP_047294083.1:p.Val717Ile

    2.

    rs1489324490 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      19:54454481 (GRCh38)
      19:54965660 (GRCh37)
      Canonical SPDI:
      NC_000019.10:54454480:C:A
      Gene:
      LENG8 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.54454481C>A, NW_004166865.1:g.428848C>A, NT_187693.1:g.436774C>A, NC_000019.9:g.54965660C>A, NW_003571060.1:g.359168C>A, NW_003571054.1:g.360995C>A, XM_005278250.6:c.424C>A, XM_005278250.5:c.424C>A, XM_005278250.4:c.424C>A, XM_005278250.3:c.424C>A, XM_005278250.2:c.424C>A, XM_005278250.1:c.424C>A, XM_005278252.6:c.367C>A, XM_005278252.5:c.367C>A, XM_005278252.4:c.367C>A, XM_005278252.3:c.367C>A, XM_005278252.2:c.367C>A, XM_005278252.1:c.367C>A, XM_006722997.5:c.313C>A, XM_006722997.4:c.313C>A, XM_006722997.3:c.313C>A, XM_006722997.2:c.313C>A, XM_006722997.1:c.313C>A, XM_011526414.4:c.367C>A, XM_011526414.3:c.367C>A, XM_011526414.2:c.367C>A, XM_011526414.1:c.367C>A, NM_052925.4:c.478C>A, NM_052925.3:c.478C>A, NM_052925.2:c.478C>A, XM_011526415.4:c.478C>A, XM_011526415.3:c.478C>A, XM_011526415.2:c.478C>A, XM_011526415.1:c.478C>A, NM_001375638.1:c.478C>A, NM_001375641.1:c.478C>A, NM_001375640.1:c.478C>A, NM_001375639.1:c.424C>A, XM_047438123.1:c.367C>A, NM_001411063.1:c.367C>A, XM_047438124.1:c.478C>A, XM_047438126.1:c.367C>A, XM_047438125.1:c.367C>A, XM_047438127.1:c.367C>A, XP_005278307.1:p.Gln142Lys, XP_005278309.1:p.Gln123Lys, XP_006723060.1:p.Gln105Lys, XP_011524716.1:p.Gln123Lys, NP_443157.1:p.Gln160Lys, XP_011524717.1:p.Gln160Lys, NP_001362567.1:p.Gln160Lys, NP_001362570.1:p.Gln160Lys, NP_001362569.1:p.Gln160Lys, NP_001362568.1:p.Gln142Lys, XP_047294079.1:p.Gln123Lys, XP_047294080.1:p.Gln160Lys, XP_047294082.1:p.Gln123Lys, XP_047294081.1:p.Gln123Lys, XP_047294083.1:p.Gln123Lys

      3.

      rs1488418496 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:54456734 (GRCh38)
        19:54967913 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54456733:G:A
        Gene:
        LENG8 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.54456734G>A, NW_004166865.1:g.431101G>A, NT_187693.1:g.439027G>A, NC_000019.9:g.54967913G>A, NW_003571060.1:g.361421G>A, NW_003571054.1:g.363248G>A, XM_005278250.6:c.1490G>A, XM_005278250.5:c.1490G>A, XM_005278250.4:c.1490G>A, XM_005278250.3:c.1490G>A, XM_005278250.2:c.1490G>A, XM_005278250.1:c.1490G>A, XM_005278252.6:c.1433G>A, XM_005278252.5:c.1433G>A, XM_005278252.4:c.1433G>A, XM_005278252.3:c.1433G>A, XM_005278252.2:c.1433G>A, XM_005278252.1:c.1433G>A, XM_006722997.5:c.1379G>A, XM_006722997.4:c.1379G>A, XM_006722997.3:c.1379G>A, XM_006722997.2:c.1379G>A, XM_006722997.1:c.1379G>A, XM_011526414.4:c.1433G>A, XM_011526414.3:c.1433G>A, XM_011526414.2:c.1433G>A, XM_011526414.1:c.1433G>A, NM_052925.4:c.1544G>A, NM_052925.3:c.1544G>A, NM_052925.2:c.1544G>A, XM_011526415.4:c.1544G>A, XM_011526415.3:c.1544G>A, XM_011526415.2:c.1544G>A, XM_011526415.1:c.1544G>A, NM_001375638.1:c.1544G>A, NM_001375641.1:c.1544G>A, NM_001375639.1:c.1490G>A, XM_047438123.1:c.1433G>A, XM_047438124.1:c.1544G>A, XM_047438126.1:c.1433G>A, XM_047438125.1:c.1433G>A, NM_001375640.1:c.1544G>A, NM_001411063.1:c.1433G>A, XM_047438127.1:c.1433G>A, XP_005278307.1:p.Arg497His, XP_005278309.1:p.Arg478His, XP_006723060.1:p.Arg460His, XP_011524716.1:p.Arg478His, NP_443157.1:p.Arg515His, XP_011524717.1:p.Arg515His, NP_001362567.1:p.Arg515His, NP_001362570.1:p.Arg515His, NP_001362568.1:p.Arg497His, XP_047294079.1:p.Arg478His, XP_047294080.1:p.Arg515His, XP_047294082.1:p.Arg478His, XP_047294081.1:p.Arg478His, NP_001362569.1:p.Arg515His, XP_047294083.1:p.Arg478His

        4.

        rs1488360704 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          19:54457997 (GRCh38)
          19:54969176 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54457996:G:A,NC_000019.10:54457996:G:C
          Gene:
          LENG8 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000031/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.54457997G>A, NC_000019.10:g.54457997G>C, NW_004166865.1:g.432364G>A, NW_004166865.1:g.432364G>C, NT_187693.1:g.440290G>A, NT_187693.1:g.440290G>C, NC_000019.9:g.54969176G>A, NC_000019.9:g.54969176G>C, NW_003571060.1:g.362684G>A, NW_003571060.1:g.362684G>C, NW_003571054.1:g.364511G>A, NW_003571054.1:g.364511G>C, XM_005278250.6:c.1843G>A, XM_005278250.6:c.1843G>C, XM_005278250.5:c.1843G>A, XM_005278250.5:c.1843G>C, XM_005278250.4:c.1843G>A, XM_005278250.4:c.1843G>C, XM_005278250.3:c.1843G>A, XM_005278250.3:c.1843G>C, XM_005278250.2:c.1843G>A, XM_005278250.2:c.1843G>C, XM_005278250.1:c.1843G>A, XM_005278250.1:c.1843G>C, XM_005278252.6:c.1786G>A, XM_005278252.6:c.1786G>C, XM_005278252.5:c.1786G>A, XM_005278252.5:c.1786G>C, XM_005278252.4:c.1786G>A, XM_005278252.4:c.1786G>C, XM_005278252.3:c.1786G>A, XM_005278252.3:c.1786G>C, XM_005278252.2:c.1786G>A, XM_005278252.2:c.1786G>C, XM_005278252.1:c.1786G>A, XM_005278252.1:c.1786G>C, XM_006722997.5:c.1732G>A, XM_006722997.5:c.1732G>C, XM_006722997.4:c.1732G>A, XM_006722997.4:c.1732G>C, XM_006722997.3:c.1732G>A, XM_006722997.3:c.1732G>C, XM_006722997.2:c.1732G>A, XM_006722997.2:c.1732G>C, XM_006722997.1:c.1732G>A, XM_006722997.1:c.1732G>C, XM_011526414.4:c.1786G>A, XM_011526414.4:c.1786G>C, XM_011526414.3:c.1786G>A, XM_011526414.3:c.1786G>C, XM_011526414.2:c.1786G>A, XM_011526414.2:c.1786G>C, XM_011526414.1:c.1786G>A, XM_011526414.1:c.1786G>C, NM_052925.4:c.1897G>A, NM_052925.4:c.1897G>C, NM_052925.3:c.1897G>A, NM_052925.3:c.1897G>C, NM_052925.2:c.1897G>A, NM_052925.2:c.1897G>C, XM_011526415.4:c.1897G>A, XM_011526415.4:c.1897G>C, XM_011526415.3:c.1897G>A, XM_011526415.3:c.1897G>C, XM_011526415.2:c.1897G>A, XM_011526415.2:c.1897G>C, XM_011526415.1:c.1897G>A, XM_011526415.1:c.1897G>C, NM_001375638.1:c.1897G>A, NM_001375638.1:c.1897G>C, NM_001375641.1:c.1897G>A, NM_001375641.1:c.1897G>C, NM_001375640.1:c.1897G>A, NM_001375640.1:c.1897G>C, NM_001375639.1:c.1843G>A, NM_001375639.1:c.1843G>C, XM_047438123.1:c.1786G>A, XM_047438123.1:c.1786G>C, NM_001411063.1:c.1786G>A, NM_001411063.1:c.1786G>C, XM_047438124.1:c.1897G>A, XM_047438124.1:c.1897G>C, XM_047438126.1:c.1786G>A, XM_047438126.1:c.1786G>C, XM_047438125.1:c.1786G>A, XM_047438125.1:c.1786G>C, XM_047438127.1:c.1786G>A, XM_047438127.1:c.1786G>C, XP_005278307.1:p.Glu615Lys, XP_005278307.1:p.Glu615Gln, XP_005278309.1:p.Glu596Lys, XP_005278309.1:p.Glu596Gln, XP_006723060.1:p.Glu578Lys, XP_006723060.1:p.Glu578Gln, XP_011524716.1:p.Glu596Lys, XP_011524716.1:p.Glu596Gln, NP_443157.1:p.Glu633Lys, NP_443157.1:p.Glu633Gln, XP_011524717.1:p.Glu633Lys, XP_011524717.1:p.Glu633Gln, NP_001362567.1:p.Glu633Lys, NP_001362567.1:p.Glu633Gln, NP_001362570.1:p.Glu633Lys, NP_001362570.1:p.Glu633Gln, NP_001362569.1:p.Glu633Lys, NP_001362569.1:p.Glu633Gln, NP_001362568.1:p.Glu615Lys, NP_001362568.1:p.Glu615Gln, XP_047294079.1:p.Glu596Lys, XP_047294079.1:p.Glu596Gln, XP_047294080.1:p.Glu633Lys, XP_047294080.1:p.Glu633Gln, XP_047294082.1:p.Glu596Lys, XP_047294082.1:p.Glu596Gln, XP_047294081.1:p.Glu596Lys, XP_047294081.1:p.Glu596Gln, XP_047294083.1:p.Glu596Lys, XP_047294083.1:p.Glu596Gln

          5.

          rs1485966821 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:54456665 (GRCh38)
            19:54967844 (GRCh37)
            Canonical SPDI:
            NC_000019.10:54456664:G:A
            Gene:
            LENG8 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.54456665G>A, NW_004166865.1:g.431032G>A, NT_187693.1:g.438958G>A, NC_000019.9:g.54967844G>A, NW_003571060.1:g.361352G>A, NW_003571054.1:g.363179G>A, XM_005278250.6:c.1421G>A, XM_005278250.5:c.1421G>A, XM_005278250.4:c.1421G>A, XM_005278250.3:c.1421G>A, XM_005278250.2:c.1421G>A, XM_005278250.1:c.1421G>A, XM_005278252.6:c.1364G>A, XM_005278252.5:c.1364G>A, XM_005278252.4:c.1364G>A, XM_005278252.3:c.1364G>A, XM_005278252.2:c.1364G>A, XM_005278252.1:c.1364G>A, XM_006722997.5:c.1310G>A, XM_006722997.4:c.1310G>A, XM_006722997.3:c.1310G>A, XM_006722997.2:c.1310G>A, XM_006722997.1:c.1310G>A, XM_011526414.4:c.1364G>A, XM_011526414.3:c.1364G>A, XM_011526414.2:c.1364G>A, XM_011526414.1:c.1364G>A, NM_052925.4:c.1475G>A, NM_052925.3:c.1475G>A, NM_052925.2:c.1475G>A, XM_011526415.4:c.1475G>A, XM_011526415.3:c.1475G>A, XM_011526415.2:c.1475G>A, XM_011526415.1:c.1475G>A, NM_001375638.1:c.1475G>A, NM_001375641.1:c.1475G>A, NM_001375640.1:c.1475G>A, NM_001375639.1:c.1421G>A, XM_047438123.1:c.1364G>A, NM_001411063.1:c.1364G>A, XM_047438124.1:c.1475G>A, XM_047438126.1:c.1364G>A, XM_047438125.1:c.1364G>A, XM_047438127.1:c.1364G>A, XP_005278307.1:p.Arg474Gln, XP_005278309.1:p.Arg455Gln, XP_006723060.1:p.Arg437Gln, XP_011524716.1:p.Arg455Gln, NP_443157.1:p.Arg492Gln, XP_011524717.1:p.Arg492Gln, NP_001362567.1:p.Arg492Gln, NP_001362570.1:p.Arg492Gln, NP_001362569.1:p.Arg492Gln, NP_001362568.1:p.Arg474Gln, XP_047294079.1:p.Arg455Gln, XP_047294080.1:p.Arg492Gln, XP_047294082.1:p.Arg455Gln, XP_047294081.1:p.Arg455Gln, XP_047294083.1:p.Arg455Gln

            6.

            rs1485156496 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:54457935 (GRCh38)
              19:54969114 (GRCh37)
              Canonical SPDI:
              NC_000019.10:54457934:T:C
              Gene:
              LENG8 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.54457935T>C, NW_004166865.1:g.432302T>C, NT_187693.1:g.440228T>C, NC_000019.9:g.54969114T>C, NW_003571060.1:g.362622T>C, NW_003571054.1:g.364449T>C, XM_005278250.6:c.1781T>C, XM_005278250.5:c.1781T>C, XM_005278250.4:c.1781T>C, XM_005278250.3:c.1781T>C, XM_005278250.2:c.1781T>C, XM_005278250.1:c.1781T>C, XM_005278252.6:c.1724T>C, XM_005278252.5:c.1724T>C, XM_005278252.4:c.1724T>C, XM_005278252.3:c.1724T>C, XM_005278252.2:c.1724T>C, XM_005278252.1:c.1724T>C, XM_006722997.5:c.1670T>C, XM_006722997.4:c.1670T>C, XM_006722997.3:c.1670T>C, XM_006722997.2:c.1670T>C, XM_006722997.1:c.1670T>C, XM_011526414.4:c.1724T>C, XM_011526414.3:c.1724T>C, XM_011526414.2:c.1724T>C, XM_011526414.1:c.1724T>C, NM_052925.4:c.1835T>C, NM_052925.3:c.1835T>C, NM_052925.2:c.1835T>C, XM_011526415.4:c.1835T>C, XM_011526415.3:c.1835T>C, XM_011526415.2:c.1835T>C, XM_011526415.1:c.1835T>C, NM_001375638.1:c.1835T>C, NM_001375641.1:c.1835T>C, NM_001375640.1:c.1835T>C, NM_001375639.1:c.1781T>C, XM_047438123.1:c.1724T>C, NM_001411063.1:c.1724T>C, XM_047438124.1:c.1835T>C, XM_047438126.1:c.1724T>C, XM_047438125.1:c.1724T>C, XM_047438127.1:c.1724T>C, XP_005278307.1:p.Val594Ala, XP_005278309.1:p.Val575Ala, XP_006723060.1:p.Val557Ala, XP_011524716.1:p.Val575Ala, NP_443157.1:p.Val612Ala, XP_011524717.1:p.Val612Ala, NP_001362567.1:p.Val612Ala, NP_001362570.1:p.Val612Ala, NP_001362569.1:p.Val612Ala, NP_001362568.1:p.Val594Ala, XP_047294079.1:p.Val575Ala, XP_047294080.1:p.Val612Ala, XP_047294082.1:p.Val575Ala, XP_047294081.1:p.Val575Ala, XP_047294083.1:p.Val575Ala

              7.

              rs1484243603 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                19:54455087 (GRCh38)
                19:54966266 (GRCh37)
                Canonical SPDI:
                NC_000019.10:54455086:C:G
                Gene:
                LENG8 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000019.10:g.54455087C>G, NW_004166865.1:g.429454C>G, NT_187693.1:g.437380C>G, NC_000019.9:g.54966266C>G, NW_003571060.1:g.359774C>G, NW_003571054.1:g.361601C>G, XM_005278250.6:c.762C>G, XM_005278250.5:c.762C>G, XM_005278250.4:c.762C>G, XM_005278250.3:c.762C>G, XM_005278250.2:c.762C>G, XM_005278250.1:c.762C>G, XM_005278252.6:c.705C>G, XM_005278252.5:c.705C>G, XM_005278252.4:c.705C>G, XM_005278252.3:c.705C>G, XM_005278252.2:c.705C>G, XM_005278252.1:c.705C>G, XM_006722997.5:c.651C>G, XM_006722997.4:c.651C>G, XM_006722997.3:c.651C>G, XM_006722997.2:c.651C>G, XM_006722997.1:c.651C>G, XM_011526414.4:c.705C>G, XM_011526414.3:c.705C>G, XM_011526414.2:c.705C>G, XM_011526414.1:c.705C>G, NM_052925.4:c.816C>G, NM_052925.3:c.816C>G, NM_052925.2:c.816C>G, XM_011526415.4:c.816C>G, XM_011526415.3:c.816C>G, XM_011526415.2:c.816C>G, XM_011526415.1:c.816C>G, NM_001375638.1:c.816C>G, NM_001375641.1:c.816C>G, NM_001375640.1:c.816C>G, NM_001375639.1:c.762C>G, XM_047438123.1:c.705C>G, NM_001411063.1:c.705C>G, XM_047438124.1:c.816C>G, XM_047438126.1:c.705C>G, XM_047438125.1:c.705C>G, XM_047438127.1:c.705C>G, XP_005278307.1:p.Asn254Lys, XP_005278309.1:p.Asn235Lys, XP_006723060.1:p.Asn217Lys, XP_011524716.1:p.Asn235Lys, NP_443157.1:p.Asn272Lys, XP_011524717.1:p.Asn272Lys, NP_001362567.1:p.Asn272Lys, NP_001362570.1:p.Asn272Lys, NP_001362569.1:p.Asn272Lys, NP_001362568.1:p.Asn254Lys, XP_047294079.1:p.Asn235Lys, XP_047294080.1:p.Asn272Lys, XP_047294082.1:p.Asn235Lys, XP_047294081.1:p.Asn235Lys, XP_047294083.1:p.Asn235Lys

                8.

                rs1483911447 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  19:54454591 (GRCh38)
                  19:54965770 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:54454590:GGGG:GGG
                  Gene:
                  LENG8 (Varview)
                  Functional Consequence:
                  frameshift_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GGG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000019.10:g.54454594del, NW_004166865.1:g.428961del, NT_187693.1:g.436887del, NC_000019.9:g.54965773del, NW_003571060.1:g.359281del, NW_003571054.1:g.361108del, XM_005278250.6:c.537del, XM_005278250.5:c.537del, XM_005278250.4:c.537del, XM_005278250.3:c.537del, XM_005278250.2:c.537del, XM_005278250.1:c.537del, XM_005278252.6:c.480del, XM_005278252.5:c.480del, XM_005278252.4:c.480del, XM_005278252.3:c.480del, XM_005278252.2:c.480del, XM_005278252.1:c.480del, XM_006722997.5:c.426del, XM_006722997.4:c.426del, XM_006722997.3:c.426del, XM_006722997.2:c.426del, XM_006722997.1:c.426del, XM_011526414.4:c.480del, XM_011526414.3:c.480del, XM_011526414.2:c.480del, XM_011526414.1:c.480del, NM_052925.4:c.591del, NM_052925.3:c.591del, NM_052925.2:c.591del, XM_011526415.4:c.591del, XM_011526415.3:c.591del, XM_011526415.2:c.591del, XM_011526415.1:c.591del, NM_001375638.1:c.591del, NM_001375641.1:c.591del, NM_001375640.1:c.591del, NM_001375639.1:c.537del, XM_047438123.1:c.480del, NM_001411063.1:c.480del, XM_047438124.1:c.591del, XM_047438126.1:c.480del, XM_047438125.1:c.480del, XM_047438127.1:c.480del, XP_005278307.1:p.Ala181fs, XP_005278309.1:p.Ala162fs, XP_006723060.1:p.Ala144fs, XP_011524716.1:p.Ala162fs, NP_443157.1:p.Ala199fs, XP_011524717.1:p.Ala199fs, NP_001362567.1:p.Ala199fs, NP_001362570.1:p.Ala199fs, NP_001362569.1:p.Ala199fs, NP_001362568.1:p.Ala181fs, XP_047294079.1:p.Ala162fs, XP_047294080.1:p.Ala199fs, XP_047294082.1:p.Ala162fs, XP_047294081.1:p.Ala162fs, XP_047294083.1:p.Ala162fs

                  9.

                  rs1482325765 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:54456845 (GRCh38)
                    19:54968024 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:54456844:G:A
                    Gene:
                    LENG8 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000019.10:g.54456845G>A, NW_004166865.1:g.431212G>A, NT_187693.1:g.439138G>A, NC_000019.9:g.54968024G>A, NW_003571060.1:g.361532G>A, NW_003571054.1:g.363359G>A, XM_005278250.6:c.1601G>A, XM_005278250.5:c.1601G>A, XM_005278250.4:c.1601G>A, XM_005278250.3:c.1601G>A, XM_005278250.2:c.1601G>A, XM_005278250.1:c.1601G>A, XM_005278252.6:c.1544G>A, XM_005278252.5:c.1544G>A, XM_005278252.4:c.1544G>A, XM_005278252.3:c.1544G>A, XM_005278252.2:c.1544G>A, XM_005278252.1:c.1544G>A, XM_006722997.5:c.1490G>A, XM_006722997.4:c.1490G>A, XM_006722997.3:c.1490G>A, XM_006722997.2:c.1490G>A, XM_006722997.1:c.1490G>A, XM_011526414.4:c.1544G>A, XM_011526414.3:c.1544G>A, XM_011526414.2:c.1544G>A, XM_011526414.1:c.1544G>A, NM_052925.4:c.1655G>A, NM_052925.3:c.1655G>A, NM_052925.2:c.1655G>A, XM_011526415.4:c.1655G>A, XM_011526415.3:c.1655G>A, XM_011526415.2:c.1655G>A, XM_011526415.1:c.1655G>A, NM_001375638.1:c.1655G>A, NM_001375641.1:c.1655G>A, NM_001375639.1:c.1601G>A, XM_047438123.1:c.1544G>A, XM_047438124.1:c.1655G>A, XM_047438126.1:c.1544G>A, XM_047438125.1:c.1544G>A, NM_001375640.1:c.1655G>A, NM_001411063.1:c.1544G>A, XM_047438127.1:c.1544G>A, XP_005278307.1:p.Gly534Asp, XP_005278309.1:p.Gly515Asp, XP_006723060.1:p.Gly497Asp, XP_011524716.1:p.Gly515Asp, NP_443157.1:p.Gly552Asp, XP_011524717.1:p.Gly552Asp, NP_001362567.1:p.Gly552Asp, NP_001362570.1:p.Gly552Asp, NP_001362568.1:p.Gly534Asp, XP_047294079.1:p.Gly515Asp, XP_047294080.1:p.Gly552Asp, XP_047294082.1:p.Gly515Asp, XP_047294081.1:p.Gly515Asp, NP_001362569.1:p.Gly552Asp, XP_047294083.1:p.Gly515Asp

                    10.

                    rs1482116928 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:54460896 (GRCh38)
                      19:54972076 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:54460895:C:T
                      Gene:
                      LENG8 (Varview)
                      Functional Consequence:
                      missense_variant,3_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.54460896C>T, NW_004166865.1:g.435263C>T, NT_187693.1:g.443190C>T, NC_000019.9:g.54972076C>T, NW_003571060.1:g.365584C>T, NW_003571054.1:g.367410C>T, XM_005278250.6:c.*1990C>T, XM_005278250.5:c.*1990C>T, XM_005278250.4:c.*1990C>T, XM_005278252.6:c.*1990C>T, XM_005278252.5:c.*1990C>T, XM_005278252.4:c.*1990C>T, XM_006722997.5:c.*1990C>T, XM_006722997.4:c.*1990C>T, XM_006722997.3:c.*1990C>T, XM_011526414.4:c.*1990C>T, XM_011526414.3:c.*1990C>T, XM_011526414.2:c.*1990C>T, NM_052925.4:c.2371C>T, NM_052925.3:c.2371C>T, NM_052925.2:c.2371C>T, XM_011526415.4:c.2371C>T, XM_011526415.3:c.2371C>T, XM_011526415.2:c.2371C>T, XM_011526415.1:c.2371C>T, NM_001375638.1:c.*1990C>T, NM_001375641.1:c.*1990C>T, NM_001375640.1:c.*1990C>T, NM_001375639.1:c.*1990C>T, XM_047438123.1:c.*1990C>T, NM_001411063.1:c.*1990C>T, XM_047438124.1:c.2371C>T, XM_047438126.1:c.2260C>T, XM_047438125.1:c.2260C>T, XM_047438127.1:c.2260C>T, NP_443157.1:p.Arg791Cys, XP_011524717.1:p.Arg791Cys, XP_047294080.1:p.Arg791Cys, XP_047294082.1:p.Arg754Cys, XP_047294081.1:p.Arg754Cys, XP_047294083.1:p.Arg754Cys

                      11.

                      rs1481881330 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        19:54454515 (GRCh38)
                        19:54965694 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:54454514:A:T
                        Gene:
                        LENG8 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000023/6 (TOPMED)
                        T=0.000029/4 (GnomAD)
                        HGVS:
                        NC_000019.10:g.54454515A>T, NW_004166865.1:g.428882A>T, NT_187693.1:g.436808A>T, NC_000019.9:g.54965694A>T, NW_003571060.1:g.359202A>T, NW_003571054.1:g.361029A>T, XM_005278250.6:c.458A>T, XM_005278250.5:c.458A>T, XM_005278250.4:c.458A>T, XM_005278250.3:c.458A>T, XM_005278250.2:c.458A>T, XM_005278250.1:c.458A>T, XM_005278252.6:c.401A>T, XM_005278252.5:c.401A>T, XM_005278252.4:c.401A>T, XM_005278252.3:c.401A>T, XM_005278252.2:c.401A>T, XM_005278252.1:c.401A>T, XM_006722997.5:c.347A>T, XM_006722997.4:c.347A>T, XM_006722997.3:c.347A>T, XM_006722997.2:c.347A>T, XM_006722997.1:c.347A>T, XM_011526414.4:c.401A>T, XM_011526414.3:c.401A>T, XM_011526414.2:c.401A>T, XM_011526414.1:c.401A>T, NM_052925.4:c.512A>T, NM_052925.3:c.512A>T, NM_052925.2:c.512A>T, XM_011526415.4:c.512A>T, XM_011526415.3:c.512A>T, XM_011526415.2:c.512A>T, XM_011526415.1:c.512A>T, NM_001375638.1:c.512A>T, NM_001375641.1:c.512A>T, NM_001375640.1:c.512A>T, NM_001375639.1:c.458A>T, XM_047438123.1:c.401A>T, NM_001411063.1:c.401A>T, XM_047438126.1:c.401A>T, XM_047438125.1:c.401A>T, XM_047438124.1:c.512A>T, XM_047438127.1:c.401A>T, XP_005278307.1:p.Asn153Ile, XP_005278309.1:p.Asn134Ile, XP_006723060.1:p.Asn116Ile, XP_011524716.1:p.Asn134Ile, NP_443157.1:p.Asn171Ile, XP_011524717.1:p.Asn171Ile, NP_001362567.1:p.Asn171Ile, NP_001362570.1:p.Asn171Ile, NP_001362569.1:p.Asn171Ile, NP_001362568.1:p.Asn153Ile, XP_047294079.1:p.Asn134Ile, XP_047294082.1:p.Asn134Ile, XP_047294081.1:p.Asn134Ile, XP_047294080.1:p.Asn171Ile, XP_047294083.1:p.Asn134Ile

                        12.

                        rs1481326252 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:54452230 (GRCh38)
                          19:54963407 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:54452229:C:T
                          Gene:
                          LENG8 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.54452230C>T, NW_004166865.1:g.426597C>T, NT_187693.1:g.434521C>T, NC_000019.9:g.54963407C>T, NW_003571060.1:g.356915C>T, NW_003571054.1:g.358742C>T, XM_005278250.6:c.122C>T, XM_005278250.5:c.122C>T, XM_005278250.4:c.122C>T, XM_005278250.3:c.122C>T, XM_005278250.2:c.122C>T, XM_005278250.1:c.122C>T, XM_005278252.6:c.176C>T, XM_005278252.5:c.176C>T, XM_005278252.4:c.176C>T, XM_005278252.3:c.176C>T, XM_005278252.2:c.176C>T, XM_005278252.1:c.176C>T, XM_006722997.5:c.122C>T, XM_006722997.4:c.122C>T, XM_006722997.3:c.122C>T, XM_006722997.2:c.122C>T, XM_006722997.1:c.122C>T, XM_011526414.4:c.176C>T, XM_011526414.3:c.176C>T, XM_011526414.2:c.176C>T, XM_011526414.1:c.176C>T, NM_052925.4:c.176C>T, NM_052925.3:c.176C>T, NM_052925.2:c.176C>T, XM_011526415.4:c.176C>T, XM_011526415.3:c.176C>T, XM_011526415.2:c.176C>T, XM_011526415.1:c.176C>T, NM_001375638.1:c.176C>T, NM_001375641.1:c.176C>T, NM_001375640.1:c.176C>T, NM_001375639.1:c.122C>T, XM_047438123.1:c.176C>T, NM_001411063.1:c.176C>T, XM_047438124.1:c.176C>T, XM_047438126.1:c.176C>T, XM_047438125.1:c.176C>T, XM_047438127.1:c.176C>T, XP_005278307.1:p.Ala41Val, XP_005278309.1:p.Ala59Val, XP_006723060.1:p.Ala41Val, XP_011524716.1:p.Ala59Val, NP_443157.1:p.Ala59Val, XP_011524717.1:p.Ala59Val, NP_001362567.1:p.Ala59Val, NP_001362570.1:p.Ala59Val, NP_001362569.1:p.Ala59Val, NP_001362568.1:p.Ala41Val, XP_047294079.1:p.Ala59Val, XP_047294080.1:p.Ala59Val, XP_047294082.1:p.Ala59Val, XP_047294081.1:p.Ala59Val, XP_047294083.1:p.Ala59Val

                          13.

                          rs1480956411 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            19:54460835 (GRCh38)
                            19:54972015 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:54460834:G:C
                            Gene:
                            LENG8 (Varview)
                            Functional Consequence:
                            synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.54460835G>C, NW_004166865.1:g.435202G>C, NT_187693.1:g.443129G>C, NC_000019.9:g.54972015G>C, NW_003571060.1:g.365523G>C, NW_003571054.1:g.367349G>C, XM_005278250.6:c.*1929G>C, XM_005278250.5:c.*1929G>C, XM_005278250.4:c.*1929G>C, XM_005278250.1:c.*1929G>C, XM_005278252.6:c.*1929G>C, XM_005278252.5:c.*1929G>C, XM_005278252.4:c.*1929G>C, XM_005278252.1:c.*1929G>C, XM_006722997.5:c.*1929G>C, XM_006722997.4:c.*1929G>C, XM_006722997.3:c.*1929G>C, XM_011526414.4:c.*1929G>C, XM_011526414.3:c.*1929G>C, XM_011526414.2:c.*1929G>C, NM_052925.4:c.2310G>C, NM_052925.3:c.2310G>C, NM_052925.2:c.2310G>C, XM_011526415.4:c.2310G>C, XM_011526415.3:c.2310G>C, XM_011526415.2:c.2310G>C, XM_011526415.1:c.2310G>C, NM_001375638.1:c.*1929G>C, NM_001375641.1:c.*1929G>C, NM_001375640.1:c.*1929G>C, NM_001375639.1:c.*1929G>C, XM_047438123.1:c.*1929G>C, NM_001411063.1:c.*1929G>C, XM_047438124.1:c.2310G>C, XM_047438126.1:c.2199G>C, XM_047438125.1:c.2199G>C, XM_047438127.1:c.2199G>C

                            14.

                            rs1479681578 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              19:54455069 (GRCh38)
                              19:54966248 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:54455068:C:A
                              Gene:
                              LENG8 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.54455069C>A, NW_004166865.1:g.429436C>A, NT_187693.1:g.437362C>A, NC_000019.9:g.54966248C>A, NW_003571060.1:g.359756C>A, NW_003571054.1:g.361583C>A, XM_005278250.6:c.744C>A, XM_005278250.5:c.744C>A, XM_005278250.4:c.744C>A, XM_005278250.3:c.744C>A, XM_005278250.2:c.744C>A, XM_005278250.1:c.744C>A, XM_005278252.6:c.687C>A, XM_005278252.5:c.687C>A, XM_005278252.4:c.687C>A, XM_005278252.3:c.687C>A, XM_005278252.2:c.687C>A, XM_005278252.1:c.687C>A, XM_006722997.5:c.633C>A, XM_006722997.4:c.633C>A, XM_006722997.3:c.633C>A, XM_006722997.2:c.633C>A, XM_006722997.1:c.633C>A, XM_011526414.4:c.687C>A, XM_011526414.3:c.687C>A, XM_011526414.2:c.687C>A, XM_011526414.1:c.687C>A, NM_052925.4:c.798C>A, NM_052925.3:c.798C>A, NM_052925.2:c.798C>A, XM_011526415.4:c.798C>A, XM_011526415.3:c.798C>A, XM_011526415.2:c.798C>A, XM_011526415.1:c.798C>A, NM_001375638.1:c.798C>A, NM_001375641.1:c.798C>A, NM_001375639.1:c.744C>A, XM_047438123.1:c.687C>A, NM_001411063.1:c.687C>A, XM_047438124.1:c.798C>A, XM_047438126.1:c.687C>A, XM_047438125.1:c.687C>A, XM_047438127.1:c.687C>A, NM_001375640.1:c.798C>A, XP_005278307.1:p.Asn248Lys, XP_005278309.1:p.Asn229Lys, XP_006723060.1:p.Asn211Lys, XP_011524716.1:p.Asn229Lys, NP_443157.1:p.Asn266Lys, XP_011524717.1:p.Asn266Lys, NP_001362567.1:p.Asn266Lys, NP_001362570.1:p.Asn266Lys, NP_001362568.1:p.Asn248Lys, XP_047294079.1:p.Asn229Lys, XP_047294080.1:p.Asn266Lys, XP_047294082.1:p.Asn229Lys, XP_047294081.1:p.Asn229Lys, XP_047294083.1:p.Asn229Lys, NP_001362569.1:p.Asn266Lys

                              15.

                              rs1478182705 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                19:54458196 (GRCh38)
                                19:54969375 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:54458195:C:A,NC_000019.10:54458195:C:T
                                Gene:
                                LENG8 (Varview)
                                Functional Consequence:
                                stop_gained,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                A=0.00004/1 (TOMMO)
                                HGVS:
                                NC_000019.10:g.54458196C>A, NC_000019.10:g.54458196C>T, NW_004166865.1:g.432563C>A, NW_004166865.1:g.432563C>T, NT_187693.1:g.440489C>A, NT_187693.1:g.440489C>T, NC_000019.9:g.54969375C>A, NC_000019.9:g.54969375C>T, NW_003571060.1:g.362883C>A, NW_003571060.1:g.362883C>T, NW_003571054.1:g.364710C>A, NW_003571054.1:g.364710C>T, XM_005278250.6:c.1942C>A, XM_005278250.6:c.1942C>T, XM_005278250.5:c.1942C>A, XM_005278250.5:c.1942C>T, XM_005278250.4:c.1942C>A, XM_005278250.4:c.1942C>T, XM_005278250.3:c.1942C>A, XM_005278250.3:c.1942C>T, XM_005278250.2:c.1942C>A, XM_005278250.2:c.1942C>T, XM_005278250.1:c.1942C>A, XM_005278250.1:c.1942C>T, XM_005278252.6:c.1885C>A, XM_005278252.6:c.1885C>T, XM_005278252.5:c.1885C>A, XM_005278252.5:c.1885C>T, XM_005278252.4:c.1885C>A, XM_005278252.4:c.1885C>T, XM_005278252.3:c.1885C>A, XM_005278252.3:c.1885C>T, XM_005278252.2:c.1885C>A, XM_005278252.2:c.1885C>T, XM_005278252.1:c.1885C>A, XM_005278252.1:c.1885C>T, XM_006722997.5:c.1831C>A, XM_006722997.5:c.1831C>T, XM_006722997.4:c.1831C>A, XM_006722997.4:c.1831C>T, XM_006722997.3:c.1831C>A, XM_006722997.3:c.1831C>T, XM_006722997.2:c.1831C>A, XM_006722997.2:c.1831C>T, XM_006722997.1:c.1831C>A, XM_006722997.1:c.1831C>T, XM_011526414.4:c.1885C>A, XM_011526414.4:c.1885C>T, XM_011526414.3:c.1885C>A, XM_011526414.3:c.1885C>T, XM_011526414.2:c.1885C>A, XM_011526414.2:c.1885C>T, XM_011526414.1:c.1885C>A, XM_011526414.1:c.1885C>T, NM_052925.4:c.1996C>A, NM_052925.4:c.1996C>T, NM_052925.3:c.1996C>A, NM_052925.3:c.1996C>T, NM_052925.2:c.1996C>A, NM_052925.2:c.1996C>T, XM_011526415.4:c.1996C>A, XM_011526415.4:c.1996C>T, XM_011526415.3:c.1996C>A, XM_011526415.3:c.1996C>T, XM_011526415.2:c.1996C>A, XM_011526415.2:c.1996C>T, XM_011526415.1:c.1996C>A, XM_011526415.1:c.1996C>T, NM_001375638.1:c.1996C>A, NM_001375638.1:c.1996C>T, NM_001375641.1:c.1996C>A, NM_001375641.1:c.1996C>T, NM_001375640.1:c.1996C>A, NM_001375640.1:c.1996C>T, NM_001375639.1:c.1942C>A, NM_001375639.1:c.1942C>T, XM_047438123.1:c.1885C>A, XM_047438123.1:c.1885C>T, NM_001411063.1:c.1885C>A, NM_001411063.1:c.1885C>T, XM_047438124.1:c.1996C>A, XM_047438124.1:c.1996C>T, XM_047438126.1:c.1885C>A, XM_047438126.1:c.1885C>T, XM_047438125.1:c.1885C>A, XM_047438125.1:c.1885C>T, XM_047438127.1:c.1885C>A, XM_047438127.1:c.1885C>T, XP_005278307.1:p.Arg648Ter, XP_005278309.1:p.Arg629Ter, XP_006723060.1:p.Arg611Ter, XP_011524716.1:p.Arg629Ter, NP_443157.1:p.Arg666Ter, XP_011524717.1:p.Arg666Ter, NP_001362567.1:p.Arg666Ter, NP_001362570.1:p.Arg666Ter, NP_001362569.1:p.Arg666Ter, NP_001362568.1:p.Arg648Ter, XP_047294079.1:p.Arg629Ter, XP_047294080.1:p.Arg666Ter, XP_047294082.1:p.Arg629Ter, XP_047294081.1:p.Arg629Ter, XP_047294083.1:p.Arg629Ter

                                16.

                                rs1477632350 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  19:54454650 (GRCh38)
                                  19:54965829 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:54454649:A:C,NC_000019.10:54454649:A:G
                                  Gene:
                                  LENG8 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.54454650A>C, NC_000019.10:g.54454650A>G, NW_004166865.1:g.429017A>C, NW_004166865.1:g.429017A>G, NT_187693.1:g.436943A>C, NT_187693.1:g.436943A>G, NC_000019.9:g.54965829A>C, NC_000019.9:g.54965829A>G, NW_003571060.1:g.359337A>C, NW_003571060.1:g.359337A>G, NW_003571054.1:g.361164A>C, NW_003571054.1:g.361164A>G, XM_005278250.6:c.593A>C, XM_005278250.6:c.593A>G, XM_005278250.5:c.593A>C, XM_005278250.5:c.593A>G, XM_005278250.4:c.593A>C, XM_005278250.4:c.593A>G, XM_005278250.3:c.593A>C, XM_005278250.3:c.593A>G, XM_005278250.2:c.593A>C, XM_005278250.2:c.593A>G, XM_005278250.1:c.593A>C, XM_005278250.1:c.593A>G, XM_005278252.6:c.536A>C, XM_005278252.6:c.536A>G, XM_005278252.5:c.536A>C, XM_005278252.5:c.536A>G, XM_005278252.4:c.536A>C, XM_005278252.4:c.536A>G, XM_005278252.3:c.536A>C, XM_005278252.3:c.536A>G, XM_005278252.2:c.536A>C, XM_005278252.2:c.536A>G, XM_005278252.1:c.536A>C, XM_005278252.1:c.536A>G, XM_006722997.5:c.482A>C, XM_006722997.5:c.482A>G, XM_006722997.4:c.482A>C, XM_006722997.4:c.482A>G, XM_006722997.3:c.482A>C, XM_006722997.3:c.482A>G, XM_006722997.2:c.482A>C, XM_006722997.2:c.482A>G, XM_006722997.1:c.482A>C, XM_006722997.1:c.482A>G, XM_011526414.4:c.536A>C, XM_011526414.4:c.536A>G, XM_011526414.3:c.536A>C, XM_011526414.3:c.536A>G, XM_011526414.2:c.536A>C, XM_011526414.2:c.536A>G, XM_011526414.1:c.536A>C, XM_011526414.1:c.536A>G, NM_052925.4:c.647A>C, NM_052925.4:c.647A>G, NM_052925.3:c.647A>C, NM_052925.3:c.647A>G, NM_052925.2:c.647A>C, NM_052925.2:c.647A>G, XM_011526415.4:c.647A>C, XM_011526415.4:c.647A>G, XM_011526415.3:c.647A>C, XM_011526415.3:c.647A>G, XM_011526415.2:c.647A>C, XM_011526415.2:c.647A>G, XM_011526415.1:c.647A>C, XM_011526415.1:c.647A>G, NM_001375638.1:c.647A>C, NM_001375638.1:c.647A>G, NM_001375641.1:c.647A>C, NM_001375641.1:c.647A>G, NM_001375639.1:c.593A>C, NM_001375639.1:c.593A>G, XM_047438123.1:c.536A>C, XM_047438123.1:c.536A>G, NM_001411063.1:c.536A>C, NM_001411063.1:c.536A>G, XM_047438124.1:c.647A>C, XM_047438124.1:c.647A>G, XM_047438126.1:c.536A>C, XM_047438126.1:c.536A>G, XM_047438125.1:c.536A>C, XM_047438125.1:c.536A>G, XM_047438127.1:c.536A>C, XM_047438127.1:c.536A>G, NM_001375640.1:c.647A>C, NM_001375640.1:c.647A>G, XP_005278307.1:p.Lys198Thr, XP_005278307.1:p.Lys198Arg, XP_005278309.1:p.Lys179Thr, XP_005278309.1:p.Lys179Arg, XP_006723060.1:p.Lys161Thr, XP_006723060.1:p.Lys161Arg, XP_011524716.1:p.Lys179Thr, XP_011524716.1:p.Lys179Arg, NP_443157.1:p.Lys216Thr, NP_443157.1:p.Lys216Arg, XP_011524717.1:p.Lys216Thr, XP_011524717.1:p.Lys216Arg, NP_001362567.1:p.Lys216Thr, NP_001362567.1:p.Lys216Arg, NP_001362570.1:p.Lys216Thr, NP_001362570.1:p.Lys216Arg, NP_001362568.1:p.Lys198Thr, NP_001362568.1:p.Lys198Arg, XP_047294079.1:p.Lys179Thr, XP_047294079.1:p.Lys179Arg, XP_047294080.1:p.Lys216Thr, XP_047294080.1:p.Lys216Arg, XP_047294082.1:p.Lys179Thr, XP_047294082.1:p.Lys179Arg, XP_047294081.1:p.Lys179Thr, XP_047294081.1:p.Lys179Arg, XP_047294083.1:p.Lys179Thr, XP_047294083.1:p.Lys179Arg, NP_001362569.1:p.Lys216Thr, NP_001362569.1:p.Lys216Arg

                                  17.

                                  rs1476280290 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:54456781 (GRCh38)
                                    19:54967960 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:54456780:C:T
                                    Gene:
                                    LENG8 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.54456781C>T, NW_004166865.1:g.431148C>T, NT_187693.1:g.439074C>T, NC_000019.9:g.54967960C>T, NW_003571060.1:g.361468C>T, NW_003571054.1:g.363295C>T, XM_005278250.6:c.1537C>T, XM_005278250.5:c.1537C>T, XM_005278250.4:c.1537C>T, XM_005278250.3:c.1537C>T, XM_005278250.2:c.1537C>T, XM_005278250.1:c.1537C>T, XM_005278252.6:c.1480C>T, XM_005278252.5:c.1480C>T, XM_005278252.4:c.1480C>T, XM_005278252.3:c.1480C>T, XM_005278252.2:c.1480C>T, XM_005278252.1:c.1480C>T, XM_006722997.5:c.1426C>T, XM_006722997.4:c.1426C>T, XM_006722997.3:c.1426C>T, XM_006722997.2:c.1426C>T, XM_006722997.1:c.1426C>T, XM_011526414.4:c.1480C>T, XM_011526414.3:c.1480C>T, XM_011526414.2:c.1480C>T, XM_011526414.1:c.1480C>T, NM_052925.4:c.1591C>T, NM_052925.3:c.1591C>T, NM_052925.2:c.1591C>T, XM_011526415.4:c.1591C>T, XM_011526415.3:c.1591C>T, XM_011526415.2:c.1591C>T, XM_011526415.1:c.1591C>T, NM_001375638.1:c.1591C>T, NM_001375641.1:c.1591C>T, NM_001375640.1:c.1591C>T, NM_001375639.1:c.1537C>T, XM_047438123.1:c.1480C>T, NM_001411063.1:c.1480C>T, XM_047438124.1:c.1591C>T, XM_047438126.1:c.1480C>T, XM_047438125.1:c.1480C>T, XM_047438127.1:c.1480C>T

                                    18.

                                    rs1474680735 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      19:54456062 (GRCh38)
                                      19:54967241 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:54456061:G:C,NC_000019.10:54456061:G:T
                                      Gene:
                                      LENG8 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.54456062G>C, NC_000019.10:g.54456062G>T, NW_004166865.1:g.430429G>C, NW_004166865.1:g.430429G>T, NT_187693.1:g.438355G>C, NT_187693.1:g.438355G>T, NC_000019.9:g.54967241G>C, NC_000019.9:g.54967241G>T, NW_003571060.1:g.360749G>C, NW_003571060.1:g.360749G>T, NW_003571054.1:g.362576G>C, NW_003571054.1:g.362576G>T, XM_005278250.6:c.1067G>C, XM_005278250.6:c.1067G>T, XM_005278250.5:c.1067G>C, XM_005278250.5:c.1067G>T, XM_005278250.4:c.1067G>C, XM_005278250.4:c.1067G>T, XM_005278250.3:c.1067G>C, XM_005278250.3:c.1067G>T, XM_005278250.2:c.1067G>C, XM_005278250.2:c.1067G>T, XM_005278250.1:c.1067G>C, XM_005278250.1:c.1067G>T, XM_005278252.6:c.1010G>C, XM_005278252.6:c.1010G>T, XM_005278252.5:c.1010G>C, XM_005278252.5:c.1010G>T, XM_005278252.4:c.1010G>C, XM_005278252.4:c.1010G>T, XM_005278252.3:c.1010G>C, XM_005278252.3:c.1010G>T, XM_005278252.2:c.1010G>C, XM_005278252.2:c.1010G>T, XM_005278252.1:c.1010G>C, XM_005278252.1:c.1010G>T, XM_006722997.5:c.956G>C, XM_006722997.5:c.956G>T, XM_006722997.4:c.956G>C, XM_006722997.4:c.956G>T, XM_006722997.3:c.956G>C, XM_006722997.3:c.956G>T, XM_006722997.2:c.956G>C, XM_006722997.2:c.956G>T, XM_006722997.1:c.956G>C, XM_006722997.1:c.956G>T, XM_011526414.4:c.1010G>C, XM_011526414.4:c.1010G>T, XM_011526414.3:c.1010G>C, XM_011526414.3:c.1010G>T, XM_011526414.2:c.1010G>C, XM_011526414.2:c.1010G>T, XM_011526414.1:c.1010G>C, XM_011526414.1:c.1010G>T, NM_052925.4:c.1121G>C, NM_052925.4:c.1121G>T, NM_052925.3:c.1121G>C, NM_052925.3:c.1121G>T, NM_052925.2:c.1121G>C, NM_052925.2:c.1121G>T, XM_011526415.4:c.1121G>C, XM_011526415.4:c.1121G>T, XM_011526415.3:c.1121G>C, XM_011526415.3:c.1121G>T, XM_011526415.2:c.1121G>C, XM_011526415.2:c.1121G>T, XM_011526415.1:c.1121G>C, XM_011526415.1:c.1121G>T, NM_001375638.1:c.1121G>C, NM_001375638.1:c.1121G>T, NM_001375641.1:c.1121G>C, NM_001375641.1:c.1121G>T, NM_001375640.1:c.1121G>C, NM_001375640.1:c.1121G>T, NM_001375639.1:c.1067G>C, NM_001375639.1:c.1067G>T, XM_047438123.1:c.1010G>C, XM_047438123.1:c.1010G>T, NM_001411063.1:c.1010G>C, NM_001411063.1:c.1010G>T, XM_047438124.1:c.1121G>C, XM_047438124.1:c.1121G>T, XM_047438126.1:c.1010G>C, XM_047438126.1:c.1010G>T, XM_047438125.1:c.1010G>C, XM_047438125.1:c.1010G>T, XM_047438127.1:c.1010G>C, XM_047438127.1:c.1010G>T, XP_005278307.1:p.Arg356Thr, XP_005278307.1:p.Arg356Met, XP_005278309.1:p.Arg337Thr, XP_005278309.1:p.Arg337Met, XP_006723060.1:p.Arg319Thr, XP_006723060.1:p.Arg319Met, XP_011524716.1:p.Arg337Thr, XP_011524716.1:p.Arg337Met, NP_443157.1:p.Arg374Thr, NP_443157.1:p.Arg374Met, XP_011524717.1:p.Arg374Thr, XP_011524717.1:p.Arg374Met, NP_001362567.1:p.Arg374Thr, NP_001362567.1:p.Arg374Met, NP_001362570.1:p.Arg374Thr, NP_001362570.1:p.Arg374Met, NP_001362569.1:p.Arg374Thr, NP_001362569.1:p.Arg374Met, NP_001362568.1:p.Arg356Thr, NP_001362568.1:p.Arg356Met, XP_047294079.1:p.Arg337Thr, XP_047294079.1:p.Arg337Met, XP_047294080.1:p.Arg374Thr, XP_047294080.1:p.Arg374Met, XP_047294082.1:p.Arg337Thr, XP_047294082.1:p.Arg337Met, XP_047294081.1:p.Arg337Thr, XP_047294081.1:p.Arg337Met, XP_047294083.1:p.Arg337Thr, XP_047294083.1:p.Arg337Met

                                      19.

                                      rs1471418826 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        19:54455426 (GRCh38)
                                        19:54966605 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:54455425:A:T
                                        Gene:
                                        LENG8 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.54455426A>T, NW_004166865.1:g.429793A>T, NT_187693.1:g.437719A>T, NC_000019.9:g.54966605A>T, NW_003571060.1:g.360113A>T, NW_003571054.1:g.361940A>T, XM_005278250.6:c.830A>T, XM_005278250.5:c.830A>T, XM_005278250.4:c.830A>T, XM_005278250.3:c.830A>T, XM_005278250.2:c.830A>T, XM_005278250.1:c.830A>T, XM_005278252.6:c.773A>T, XM_005278252.5:c.773A>T, XM_005278252.4:c.773A>T, XM_005278252.3:c.773A>T, XM_005278252.2:c.773A>T, XM_005278252.1:c.773A>T, XM_006722997.5:c.719A>T, XM_006722997.4:c.719A>T, XM_006722997.3:c.719A>T, XM_006722997.2:c.719A>T, XM_006722997.1:c.719A>T, XM_011526414.4:c.773A>T, XM_011526414.3:c.773A>T, XM_011526414.2:c.773A>T, XM_011526414.1:c.773A>T, NM_052925.4:c.884A>T, NM_052925.3:c.884A>T, NM_052925.2:c.884A>T, XM_011526415.4:c.884A>T, XM_011526415.3:c.884A>T, XM_011526415.2:c.884A>T, XM_011526415.1:c.884A>T, NM_001375638.1:c.884A>T, NM_001375641.1:c.884A>T, NM_001375640.1:c.884A>T, NM_001375639.1:c.830A>T, XM_047438123.1:c.773A>T, NM_001411063.1:c.773A>T, XM_047438124.1:c.884A>T, XM_047438126.1:c.773A>T, XM_047438125.1:c.773A>T, XM_047438127.1:c.773A>T, XP_005278307.1:p.Glu277Val, XP_005278309.1:p.Glu258Val, XP_006723060.1:p.Glu240Val, XP_011524716.1:p.Glu258Val, NP_443157.1:p.Glu295Val, XP_011524717.1:p.Glu295Val, NP_001362567.1:p.Glu295Val, NP_001362570.1:p.Glu295Val, NP_001362569.1:p.Glu295Val, NP_001362568.1:p.Glu277Val, XP_047294079.1:p.Glu258Val, XP_047294080.1:p.Glu295Val, XP_047294082.1:p.Glu258Val, XP_047294081.1:p.Glu258Val, XP_047294083.1:p.Glu258Val

                                        20.

                                        rs1471235144 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:54460912 (GRCh38)
                                          19:54972092 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:54460911:A:G
                                          Gene:
                                          LENG8 (Varview)
                                          Functional Consequence:
                                          missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000019/5 (TOPMED)
                                          G=0.000034/5 (GnomAD_exomes)
                                          G=0.000156/1 (1000Genomes)
                                          HGVS:
                                          NC_000019.10:g.54460912A>G, NW_004166865.1:g.435279A>G, NT_187693.1:g.443206A>G, NC_000019.9:g.54972092A>G, NW_003571060.1:g.365600A>G, NW_003571054.1:g.367426A>G, XM_005278250.6:c.*2006A>G, XM_005278250.5:c.*2006A>G, XM_005278250.4:c.*2006A>G, XM_005278252.6:c.*2006A>G, XM_005278252.5:c.*2006A>G, XM_005278252.4:c.*2006A>G, XM_006722997.5:c.*2006A>G, XM_006722997.4:c.*2006A>G, XM_006722997.3:c.*2006A>G, XM_011526414.4:c.*2006A>G, XM_011526414.3:c.*2006A>G, XM_011526414.2:c.*2006A>G, NM_052925.4:c.2387A>G, NM_052925.3:c.2387A>G, NM_052925.2:c.2387A>G, XM_011526415.4:c.2387A>G, XM_011526415.3:c.2387A>G, XM_011526415.2:c.2387A>G, XM_011526415.1:c.2387A>G, NM_001375638.1:c.*2006A>G, NM_001375641.1:c.*2006A>G, NM_001375640.1:c.*2006A>G, NM_001375639.1:c.*2006A>G, XM_047438123.1:c.*2006A>G, NM_001411063.1:c.*2006A>G, XM_047438124.1:c.2387A>G, XM_047438126.1:c.2276A>G, XM_047438125.1:c.2276A>G, XM_047438127.1:c.2276A>G, NP_443157.1:p.Gln796Arg, XP_011524717.1:p.Gln796Arg, XP_047294080.1:p.Gln796Arg, XP_047294082.1:p.Gln759Arg, XP_047294081.1:p.Gln759Arg, XP_047294083.1:p.Gln759Arg

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