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Items: 1 to 20 of 264

1.

rs1489839582 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:51056478 (GRCh38)
    12:51450261 (GRCh37)
    Canonical SPDI:
    NC_000012.12:51056477:G:A
    Gene:
    LETMD1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.51056478G>A, NC_000012.11:g.51450261G>A, NG_029858.2:g.13259G>A, NM_015416.5:c.891G>A, NM_015416.4:c.891G>A, NR_045020.3:n.433G>A, NR_045020.2:n.461G>A, NR_045020.1:n.461G>A, NR_147119.2:n.1476G>A, NR_147119.1:n.1504G>A, NM_001351324.2:c.609G>A, NM_001351324.1:c.609G>A, NM_001351319.2:c.723G>A, NM_001351319.1:c.723G>A, NR_147118.2:n.1442G>A, NR_147118.1:n.1470G>A, NM_001351335.2:c.420G>A, NM_001351335.1:c.420G>A, NM_001351320.2:c.723G>A, NM_001351320.1:c.723G>A, NM_001351336.2:c.420G>A, NM_001351336.1:c.420G>A, NM_001351327.2:c.573G>A, NM_001351327.1:c.573G>A, NR_147109.2:n.1324G>A, NR_147109.1:n.1352G>A, NR_147104.2:n.1277G>A, NR_147104.1:n.1305G>A, NR_147107.2:n.1277G>A, NR_147107.1:n.1305G>A, NR_147100.2:n.1241G>A, NR_147100.1:n.1269G>A, NR_147105.2:n.1104G>A, NR_147105.1:n.1132G>A, NR_147101.2:n.1090G>A, NR_147101.1:n.1118G>A, NM_001351337.2:c.519G>A, NM_001351337.1:c.519G>A, NR_147103.2:n.988G>A, NR_147103.1:n.1016G>A, NR_147120.2:n.988G>A, NR_147120.1:n.1016G>A, NM_001243689.2:c.930G>A, NM_001243689.1:c.930G>A, NM_001351315.2:c.912G>A, NM_001351315.1:c.912G>A, NM_001351322.2:c.609G>A, NM_001351322.1:c.609G>A, NM_001351334.2:c.420G>A, NM_001351334.1:c.420G>A, NM_001351317.2:c.891G>A, NM_001351317.1:c.891G>A, NM_001351316.2:c.912G>A, NM_001351316.1:c.912G>A, NM_001351323.2:c.609G>A, NM_001351323.1:c.609G>A, NR_147108.2:n.838G>A, NR_147108.1:n.866G>A, NM_001351312.2:c.723G>A, NM_001351312.1:c.723G>A, NM_001351313.2:c.420G>A, NM_001351313.1:c.420G>A, NR_045019.2:n.722G>A, NR_045019.1:n.750G>A, NM_001351326.2:c.573G>A, NM_001351326.1:c.573G>A, NM_001351321.2:c.621G>A, NM_001351321.1:c.621G>A, NM_001351325.2:c.588G>A, NM_001351325.1:c.588G>A, NR_147106.2:n.615G>A, NR_147106.1:n.643G>A, NR_147110.2:n.570G>A, NR_147110.1:n.598G>A, NM_001351332.2:c.540G>A, NM_001351332.1:c.540G>A, NM_001351330.2:c.540G>A, NM_001351330.1:c.540G>A, NM_001351328.2:c.540G>A, NM_001351328.1:c.540G>A, NM_001300765.2:c.519G>A, NM_001300765.1:c.519G>A, NR_147114.2:n.326G>A, NR_147114.1:n.354G>A, NR_147115.2:n.433G>A, NR_147115.1:n.461G>A, NM_001351333.2:c.519G>A, NM_001351333.1:c.519G>A, NR_147112.2:n.433G>A, NR_147112.1:n.461G>A, NR_147099.2:n.428G>A, NR_147099.1:n.456G>A, NR_147111.2:n.383G>A, NR_147111.1:n.411G>A, NR_147116.2:n.433G>A, NR_147116.1:n.461G>A, NR_147113.2:n.326G>A, NR_147113.1:n.354G>A, NR_147117.2:n.281G>A, NR_147117.1:n.309G>A, NR_147102.2:n.281G>A, NR_147102.1:n.309G>A, NR_147098.1:n.360G>A, XM_047428688.1:c.891G>A, NM_001351318.1:c.912G>A, NM_001024668.1:c.723G>A, NR_045018.1:n.833G>A, NM_001024669.1:c.*358G>A, NR_045017.1:n.824G>A, NM_001024670.1:c.*392G>A, NM_001024671.1:c.403G>A, XM_047428687.1:c.912G>A

    2.

    rs1485501262 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      12:51056396 (GRCh38)
      12:51450179 (GRCh37)
      Canonical SPDI:
      NC_000012.12:51056395:C:G,NC_000012.12:51056395:C:T
      Gene:
      LETMD1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000012.12:g.51056396C>G, NC_000012.12:g.51056396C>T, NC_000012.11:g.51450179C>G, NC_000012.11:g.51450179C>T, NG_029858.2:g.13177C>G, NG_029858.2:g.13177C>T, NM_015416.5:c.809C>G, NM_015416.5:c.809C>T, NM_015416.4:c.809C>G, NM_015416.4:c.809C>T, NR_045020.3:n.351C>G, NR_045020.3:n.351C>T, NR_045020.2:n.379C>G, NR_045020.2:n.379C>T, NR_045020.1:n.379C>G, NR_045020.1:n.379C>T, NR_147119.2:n.1394C>G, NR_147119.2:n.1394C>T, NR_147119.1:n.1422C>G, NR_147119.1:n.1422C>T, NM_001351324.2:c.527C>G, NM_001351324.2:c.527C>T, NM_001351324.1:c.527C>G, NM_001351324.1:c.527C>T, NM_001351319.2:c.641C>G, NM_001351319.2:c.641C>T, NM_001351319.1:c.641C>G, NM_001351319.1:c.641C>T, NR_147118.2:n.1360C>G, NR_147118.2:n.1360C>T, NR_147118.1:n.1388C>G, NR_147118.1:n.1388C>T, NM_001351335.2:c.338C>G, NM_001351335.2:c.338C>T, NM_001351335.1:c.338C>G, NM_001351335.1:c.338C>T, NM_001351320.2:c.641C>G, NM_001351320.2:c.641C>T, NM_001351320.1:c.641C>G, NM_001351320.1:c.641C>T, NM_001351336.2:c.338C>G, NM_001351336.2:c.338C>T, NM_001351336.1:c.338C>G, NM_001351336.1:c.338C>T, NM_001351327.2:c.491C>G, NM_001351327.2:c.491C>T, NM_001351327.1:c.491C>G, NM_001351327.1:c.491C>T, NR_147109.2:n.1242C>G, NR_147109.2:n.1242C>T, NR_147109.1:n.1270C>G, NR_147109.1:n.1270C>T, NR_147104.2:n.1195C>G, NR_147104.2:n.1195C>T, NR_147104.1:n.1223C>G, NR_147104.1:n.1223C>T, NR_147107.2:n.1195C>G, NR_147107.2:n.1195C>T, NR_147107.1:n.1223C>G, NR_147107.1:n.1223C>T, NR_147100.2:n.1159C>G, NR_147100.2:n.1159C>T, NR_147100.1:n.1187C>G, NR_147100.1:n.1187C>T, NR_147105.2:n.1022C>G, NR_147105.2:n.1022C>T, NR_147105.1:n.1050C>G, NR_147105.1:n.1050C>T, NR_147101.2:n.1008C>G, NR_147101.2:n.1008C>T, NR_147101.1:n.1036C>G, NR_147101.1:n.1036C>T, NM_001351337.2:c.437C>G, NM_001351337.2:c.437C>T, NM_001351337.1:c.437C>G, NM_001351337.1:c.437C>T, NR_147103.2:n.906C>G, NR_147103.2:n.906C>T, NR_147103.1:n.934C>G, NR_147103.1:n.934C>T, NR_147120.2:n.906C>G, NR_147120.2:n.906C>T, NR_147120.1:n.934C>G, NR_147120.1:n.934C>T, NM_001243689.2:c.848C>G, NM_001243689.2:c.848C>T, NM_001243689.1:c.848C>G, NM_001243689.1:c.848C>T, NM_001351315.2:c.830C>G, NM_001351315.2:c.830C>T, NM_001351315.1:c.830C>G, NM_001351315.1:c.830C>T, NM_001351322.2:c.527C>G, NM_001351322.2:c.527C>T, NM_001351322.1:c.527C>G, NM_001351322.1:c.527C>T, NM_001351334.2:c.338C>G, NM_001351334.2:c.338C>T, NM_001351334.1:c.338C>G, NM_001351334.1:c.338C>T, NM_001351317.2:c.809C>G, NM_001351317.2:c.809C>T, NM_001351317.1:c.809C>G, NM_001351317.1:c.809C>T, NM_001351316.2:c.830C>G, NM_001351316.2:c.830C>T, NM_001351316.1:c.830C>G, NM_001351316.1:c.830C>T, NM_001351323.2:c.527C>G, NM_001351323.2:c.527C>T, NM_001351323.1:c.527C>G, NM_001351323.1:c.527C>T, NR_147108.2:n.756C>G, NR_147108.2:n.756C>T, NR_147108.1:n.784C>G, NR_147108.1:n.784C>T, NM_001351312.2:c.641C>G, NM_001351312.2:c.641C>T, NM_001351312.1:c.641C>G, NM_001351312.1:c.641C>T, NM_001351313.2:c.338C>G, NM_001351313.2:c.338C>T, NM_001351313.1:c.338C>G, NM_001351313.1:c.338C>T, NR_045019.2:n.640C>G, NR_045019.2:n.640C>T, NR_045019.1:n.668C>G, NR_045019.1:n.668C>T, NM_001351326.2:c.491C>G, NM_001351326.2:c.491C>T, NM_001351326.1:c.491C>G, NM_001351326.1:c.491C>T, NM_001351321.2:c.539C>G, NM_001351321.2:c.539C>T, NM_001351321.1:c.539C>G, NM_001351321.1:c.539C>T, NM_001351325.2:c.506C>G, NM_001351325.2:c.506C>T, NM_001351325.1:c.506C>G, NM_001351325.1:c.506C>T, NR_147106.2:n.533C>G, NR_147106.2:n.533C>T, NR_147106.1:n.561C>G, NR_147106.1:n.561C>T, NR_147110.2:n.488C>G, NR_147110.2:n.488C>T, NR_147110.1:n.516C>G, NR_147110.1:n.516C>T, NM_001351332.2:c.458C>G, NM_001351332.2:c.458C>T, NM_001351332.1:c.458C>G, NM_001351332.1:c.458C>T, NM_001351330.2:c.458C>G, NM_001351330.2:c.458C>T, NM_001351330.1:c.458C>G, NM_001351330.1:c.458C>T, NM_001351328.2:c.458C>G, NM_001351328.2:c.458C>T, NM_001351328.1:c.458C>G, NM_001351328.1:c.458C>T, NM_001300765.2:c.437C>G, NM_001300765.2:c.437C>T, NM_001300765.1:c.437C>G, NM_001300765.1:c.437C>T, NR_147114.2:n.244C>G, NR_147114.2:n.244C>T, NR_147114.1:n.272C>G, NR_147114.1:n.272C>T, NR_147115.2:n.351C>G, NR_147115.2:n.351C>T, NR_147115.1:n.379C>G, NR_147115.1:n.379C>T, NM_001351333.2:c.437C>G, NM_001351333.2:c.437C>T, NM_001351333.1:c.437C>G, NM_001351333.1:c.437C>T, NR_147112.2:n.351C>G, NR_147112.2:n.351C>T, NR_147112.1:n.379C>G, NR_147112.1:n.379C>T, NR_147099.2:n.346C>G, NR_147099.2:n.346C>T, NR_147099.1:n.374C>G, NR_147099.1:n.374C>T, NR_147111.2:n.301C>G, NR_147111.2:n.301C>T, NR_147111.1:n.329C>G, NR_147111.1:n.329C>T, NR_147116.2:n.351C>G, NR_147116.2:n.351C>T, NR_147116.1:n.379C>G, NR_147116.1:n.379C>T, NR_147113.2:n.244C>G, NR_147113.2:n.244C>T, NR_147113.1:n.272C>G, NR_147113.1:n.272C>T, NR_147117.2:n.199C>G, NR_147117.2:n.199C>T, NR_147117.1:n.227C>G, NR_147117.1:n.227C>T, NR_147102.2:n.199C>G, NR_147102.2:n.199C>T, NR_147102.1:n.227C>G, NR_147102.1:n.227C>T, NR_147098.1:n.278C>G, NR_147098.1:n.278C>T, XM_047428688.1:c.809C>G, XM_047428688.1:c.809C>T, NM_001351318.1:c.830C>G, NM_001351318.1:c.830C>T, NM_001024668.1:c.641C>G, NM_001024668.1:c.641C>T, NR_045018.1:n.751C>G, NR_045018.1:n.751C>T, NM_001024669.1:c.*276C>G, NM_001024669.1:c.*276C>T, NR_045017.1:n.742C>G, NR_045017.1:n.742C>T, NM_001024670.1:c.*310C>G, NM_001024670.1:c.*310C>T, NM_001024671.1:c.321C>G, NM_001024671.1:c.321C>T, XM_047428687.1:c.830C>G, XM_047428687.1:c.830C>T, NP_056231.3:p.Pro270Arg, NP_056231.3:p.Pro270Leu, NP_001338253.1:p.Pro176Arg, NP_001338253.1:p.Pro176Leu, NP_001338248.1:p.Pro214Arg, NP_001338248.1:p.Pro214Leu, NP_001338264.1:p.Pro113Arg, NP_001338264.1:p.Pro113Leu, NP_001338249.1:p.Pro214Arg, NP_001338249.1:p.Pro214Leu, NP_001338265.1:p.Pro113Arg, NP_001338265.1:p.Pro113Leu, NP_001338256.1:p.Pro164Arg, NP_001338256.1:p.Pro164Leu, NP_001338266.1:p.Pro146Arg, NP_001338266.1:p.Pro146Leu, NP_001230618.1:p.Pro283Arg, NP_001230618.1:p.Pro283Leu, NP_001338244.1:p.Pro277Arg, NP_001338244.1:p.Pro277Leu, NP_001338251.1:p.Pro176Arg, NP_001338251.1:p.Pro176Leu, NP_001338263.1:p.Pro113Arg, NP_001338263.1:p.Pro113Leu, NP_001338246.1:p.Pro270Arg, NP_001338246.1:p.Pro270Leu, NP_001338245.1:p.Pro277Arg, NP_001338245.1:p.Pro277Leu, NP_001338252.1:p.Pro176Arg, NP_001338252.1:p.Pro176Leu, NP_001338241.1:p.Pro214Arg, NP_001338241.1:p.Pro214Leu, NP_001338242.1:p.Pro113Arg, NP_001338242.1:p.Pro113Leu, NP_001338255.1:p.Pro164Arg, NP_001338255.1:p.Pro164Leu, NP_001338250.1:p.Pro180Arg, NP_001338250.1:p.Pro180Leu, NP_001338254.1:p.Pro169Arg, NP_001338254.1:p.Pro169Leu, NP_001338261.1:p.Pro153Arg, NP_001338261.1:p.Pro153Leu, NP_001338259.1:p.Pro153Arg, NP_001338259.1:p.Pro153Leu, NP_001338257.1:p.Pro153Arg, NP_001338257.1:p.Pro153Leu, NP_001287694.1:p.Pro146Arg, NP_001287694.1:p.Pro146Leu, NP_001338262.1:p.Pro146Arg, NP_001338262.1:p.Pro146Leu, XP_047284644.1:p.Pro270Arg, XP_047284644.1:p.Pro270Leu, XP_047284643.1:p.Pro277Arg, XP_047284643.1:p.Pro277Leu

      3.

      rs1479797320 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:51056020 (GRCh38)
        12:51449803 (GRCh37)
        Canonical SPDI:
        NC_000012.12:51056019:A:G
        Gene:
        LETMD1 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000047/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.51056020A>G, NC_000012.11:g.51449803A>G, NG_029858.2:g.12801A>G, NM_015416.5:c.659A>G, NM_015416.4:c.659A>G, NR_147119.2:n.1244A>G, NR_147119.1:n.1272A>G, NM_001351324.2:c.377A>G, NM_001351324.1:c.377A>G, NM_001351319.2:c.491A>G, NM_001351319.1:c.491A>G, NR_147118.2:n.1210A>G, NR_147118.1:n.1238A>G, NM_001351335.2:c.188A>G, NM_001351335.1:c.188A>G, NM_001351320.2:c.491A>G, NM_001351320.1:c.491A>G, NM_001351336.2:c.188A>G, NM_001351336.1:c.188A>G, NM_001351327.2:c.341A>G, NM_001351327.1:c.341A>G, NR_147109.2:n.1092A>G, NR_147109.1:n.1120A>G, NR_147104.2:n.1045A>G, NR_147104.1:n.1073A>G, NR_147107.2:n.1045A>G, NR_147107.1:n.1073A>G, NR_147100.2:n.1009A>G, NR_147100.1:n.1037A>G, NM_001243689.2:c.698A>G, NM_001243689.1:c.698A>G, NM_001351315.2:c.680A>G, NM_001351315.1:c.680A>G, NM_001351322.2:c.377A>G, NM_001351322.1:c.377A>G, NM_001351334.2:c.188A>G, NM_001351334.1:c.188A>G, NM_001351317.2:c.659A>G, NM_001351317.1:c.659A>G, NM_001351316.2:c.680A>G, NM_001351316.1:c.680A>G, NM_001351323.2:c.377A>G, NM_001351323.1:c.377A>G, NR_147108.2:n.606A>G, NR_147108.1:n.634A>G, NM_001351312.2:c.491A>G, NM_001351312.1:c.491A>G, NM_001351313.2:c.188A>G, NM_001351313.1:c.188A>G, NR_045019.2:n.490A>G, NR_045019.1:n.518A>G, NM_001351326.2:c.341A>G, NM_001351326.1:c.341A>G, NR_147106.2:n.383A>G, NR_147106.1:n.411A>G, NR_147110.2:n.338A>G, NR_147110.1:n.366A>G, NM_001351332.2:c.308A>G, NM_001351332.1:c.308A>G, NM_001351330.2:c.308A>G, NM_001351330.1:c.308A>G, XM_047428688.1:c.659A>G, NM_001351318.1:c.680A>G, NM_001024668.1:c.491A>G, NR_045018.1:n.601A>G, NM_001024669.1:c.*126A>G, NR_045017.1:n.592A>G, NM_001024670.1:c.*160A>G, XM_047428687.1:c.680A>G, NP_056231.3:p.Lys220Arg, NP_001338253.1:p.Lys126Arg, NP_001338248.1:p.Lys164Arg, NP_001338264.1:p.Lys63Arg, NP_001338249.1:p.Lys164Arg, NP_001338265.1:p.Lys63Arg, NP_001338256.1:p.Lys114Arg, NP_001230618.1:p.Lys233Arg, NP_001338244.1:p.Lys227Arg, NP_001338251.1:p.Lys126Arg, NP_001338263.1:p.Lys63Arg, NP_001338246.1:p.Lys220Arg, NP_001338245.1:p.Lys227Arg, NP_001338252.1:p.Lys126Arg, NP_001338241.1:p.Lys164Arg, NP_001338242.1:p.Lys63Arg, NP_001338255.1:p.Lys114Arg, NP_001338261.1:p.Lys103Arg, NP_001338259.1:p.Lys103Arg, XP_047284644.1:p.Lys220Arg, XP_047284643.1:p.Lys227Arg

        4.

        rs1479399434 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          12:51056193 (GRCh38)
          12:51449976 (GRCh37)
          Canonical SPDI:
          NC_000012.12:51056187:GAGAGAG:GAGAG
          Gene:
          LETMD1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,non_coding_transcript_variant,frameshift_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.51056189AG[2], NC_000012.11:g.51449972AG[2], NG_029858.2:g.12970AG[2], NM_015416.5:c.710_711del, NM_015416.4:c.710_711del, NR_147119.2:n.1291AG[2], NR_147119.1:n.1319AG[2], NM_001351324.2:c.428_429del, NM_001351324.1:c.428_429del, NM_001351319.2:c.542_543del, NM_001351319.1:c.542_543del, NR_147118.2:n.1257AG[2], NR_147118.1:n.1285AG[2], NM_001351335.2:c.239_240del, NM_001351335.1:c.239_240del, NM_001351320.2:c.542_543del, NM_001351320.1:c.542_543del, NM_001351336.2:c.239_240del, NM_001351336.1:c.239_240del, NM_001351327.2:c.392_393del, NM_001351327.1:c.392_393del, NR_147109.2:n.1139AG[2], NR_147109.1:n.1167AG[2], NR_147104.2:n.1092AG[2], NR_147104.1:n.1120AG[2], NR_147107.2:n.1092AG[2], NR_147107.1:n.1120AG[2], NR_147100.2:n.1056AG[2], NR_147100.1:n.1084AG[2], NR_147101.2:n.905AG[2], NR_147101.1:n.933AG[2], NM_001243689.2:c.749_750del, NM_001243689.1:c.749_750del, NM_001351315.2:c.731_732del, NM_001351315.1:c.731_732del, NM_001351322.2:c.428_429del, NM_001351322.1:c.428_429del, NM_001351334.2:c.239_240del, NM_001351334.1:c.239_240del, NM_001351317.2:c.710_711del, NM_001351317.1:c.710_711del, NM_001351316.2:c.731_732del, NM_001351316.1:c.731_732del, NM_001351323.2:c.428_429del, NM_001351323.1:c.428_429del, NR_147108.2:n.653AG[2], NR_147108.1:n.681AG[2], NM_001351312.2:c.542_543del, NM_001351312.1:c.542_543del, NM_001351313.2:c.239_240del, NM_001351313.1:c.239_240del, NR_045019.2:n.537AG[2], NR_045019.1:n.565AG[2], NM_001351326.2:c.392_393del, NM_001351326.1:c.392_393del, NM_001351321.2:c.440_441del, NM_001351321.1:c.440_441del, NM_001351325.2:c.407_408del, NM_001351325.1:c.407_408del, NR_147106.2:n.430AG[2], NR_147106.1:n.458AG[2], NR_147110.2:n.385AG[2], NR_147110.1:n.413AG[2], NM_001351332.2:c.359_360del, NM_001351332.1:c.359_360del, NM_001351330.2:c.359_360del, NM_001351330.1:c.359_360del, NR_147099.2:n.243AG[2], NR_147099.1:n.271AG[2], NR_147111.2:n.198AG[2], NR_147111.1:n.226AG[2], XM_047428688.1:c.710_711del, NM_001351318.1:c.731_732del, NM_001024668.1:c.542_543del, NR_045018.1:n.648AG[2], NM_001024669.1:c.*173AG[2], NR_045017.1:n.639AG[2], NM_001024670.1:c.*207AG[2], XM_047428687.1:c.731_732del, NP_056231.3:p.Glu237fs, NP_001338253.1:p.Glu143fs, NP_001338248.1:p.Glu181fs, NP_001338264.1:p.Glu80fs, NP_001338249.1:p.Glu181fs, NP_001338265.1:p.Glu80fs, NP_001338256.1:p.Glu131fs, NP_001230618.1:p.Glu250fs, NP_001338244.1:p.Glu244fs, NP_001338251.1:p.Glu143fs, NP_001338263.1:p.Glu80fs, NP_001338246.1:p.Glu237fs, NP_001338245.1:p.Glu244fs, NP_001338252.1:p.Glu143fs, NP_001338241.1:p.Glu181fs, NP_001338242.1:p.Glu80fs, NP_001338255.1:p.Glu131fs, NP_001338250.1:p.Glu147fs, NP_001338254.1:p.Glu136fs, NP_001338261.1:p.Glu120fs, NP_001338259.1:p.Glu120fs, XP_047284644.1:p.Glu237fs, XP_047284643.1:p.Glu244fs

          5.

          rs1473639463 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            12:51053836 (GRCh38)
            12:51447619 (GRCh37)
            Canonical SPDI:
            NC_000012.12:51053835:C:G
            Gene:
            LETMD1 (Varview)
            Functional Consequence:
            missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.51053836C>G, NC_000012.11:g.51447619C>G, NG_029858.2:g.10617C>G, NM_015416.5:c.449C>G, NM_015416.4:c.449C>G, NR_147119.2:n.1034C>G, NR_147119.1:n.1062C>G, NM_001351324.2:c.167C>G, NM_001351324.1:c.167C>G, NM_001351319.2:c.281C>G, NM_001351319.1:c.281C>G, NR_147118.2:n.1000C>G, NR_147118.1:n.1028C>G, NM_001351335.2:c.-23C>G, NM_001351335.1:c.-23C>G, NM_001351320.2:c.281C>G, NM_001351320.1:c.281C>G, NM_001351336.2:c.-23C>G, NM_001351336.1:c.-23C>G, NM_001351327.2:c.131C>G, NM_001351327.1:c.131C>G, NR_147109.2:n.1034C>G, NR_147109.1:n.1062C>G, NM_001243689.2:c.488C>G, NM_001243689.1:c.488C>G, NM_001351315.2:c.470C>G, NM_001351315.1:c.470C>G, NM_001351322.2:c.167C>G, NM_001351322.1:c.167C>G, NM_001351334.2:c.-23C>G, NM_001351334.1:c.-23C>G, NM_001351317.2:c.449C>G, NM_001351317.1:c.449C>G, NM_001351316.2:c.470C>G, NM_001351316.1:c.470C>G, NM_001351323.2:c.167C>G, NM_001351323.1:c.167C>G, NM_001351312.2:c.281C>G, NM_001351312.1:c.281C>G, NM_001351313.2:c.-23C>G, NM_001351313.1:c.-23C>G, NM_001351326.2:c.131C>G, NM_001351326.1:c.131C>G, NM_001351325.2:c.333C>G, NM_001351325.1:c.333C>G, XM_047428688.1:c.449C>G, NM_001351318.1:c.470C>G, NM_001024668.1:c.281C>G, NR_045018.1:n.391C>G, NM_001024669.1:c.333C>G, NR_045017.1:n.382C>G, XM_047428687.1:c.470C>G, NP_056231.3:p.Ala150Gly, NP_001338253.1:p.Ala56Gly, NP_001338248.1:p.Ala94Gly, NP_001338249.1:p.Ala94Gly, NP_001338256.1:p.Ala44Gly, NP_001230618.1:p.Ala163Gly, NP_001338244.1:p.Ala157Gly, NP_001338251.1:p.Ala56Gly, NP_001338246.1:p.Ala150Gly, NP_001338245.1:p.Ala157Gly, NP_001338252.1:p.Ala56Gly, NP_001338241.1:p.Ala94Gly, NP_001338255.1:p.Ala44Gly, NP_001338254.1:p.Cys111Trp, XP_047284644.1:p.Ala150Gly, XP_047284643.1:p.Ala157Gly

            6.

            rs1473295764 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:51052124 (GRCh38)
              12:51445907 (GRCh37)
              Canonical SPDI:
              NC_000012.12:51052123:G:A
              Gene:
              LETMD1 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000012.12:g.51052124G>A, NC_000012.11:g.51445907G>A, NG_029858.2:g.8905G>A, NM_015416.5:c.307G>A, NM_015416.4:c.307G>A, NR_147119.2:n.892G>A, NR_147119.1:n.920G>A, NM_001351324.2:c.25G>A, NM_001351324.1:c.25G>A, NM_001351319.2:c.139G>A, NM_001351319.1:c.139G>A, NR_147118.2:n.892G>A, NR_147118.1:n.920G>A, NM_001351335.2:c.-131G>A, NM_001351335.1:c.-131G>A, NM_001351320.2:c.139G>A, NM_001351320.1:c.139G>A, NR_147109.2:n.892G>A, NR_147109.1:n.920G>A, NR_147100.2:n.892G>A, NR_147100.1:n.920G>A, NR_147105.2:n.892G>A, NR_147105.1:n.920G>A, NM_001351337.2:c.307G>A, NM_001351337.1:c.307G>A, NM_001243689.2:c.307G>A, NM_001243689.1:c.307G>A, NM_001351315.2:c.328G>A, NM_001351315.1:c.328G>A, NM_001351322.2:c.25G>A, NM_001351322.1:c.25G>A, NM_001351334.2:c.-131G>A, NM_001351334.1:c.-131G>A, NM_001351317.2:c.307G>A, NM_001351317.1:c.307G>A, NM_001351316.2:c.328G>A, NM_001351316.1:c.328G>A, NM_001351323.2:c.25G>A, NM_001351323.1:c.25G>A, NR_147108.2:n.337G>A, NR_147108.1:n.365G>A, NM_001351312.2:c.139G>A, NM_001351312.1:c.139G>A, NM_001351321.2:c.307G>A, NM_001351321.1:c.307G>A, NM_001351328.2:c.328G>A, NM_001351328.1:c.328G>A, NM_001300765.2:c.307G>A, NM_001300765.1:c.307G>A, NM_001351333.2:c.307G>A, NM_001351333.1:c.307G>A, XM_047428688.1:c.307G>A, NM_001351318.1:c.328G>A, NM_001024668.1:c.139G>A, NR_045017.1:n.240G>A, XM_047428687.1:c.328G>A, NP_056231.3:p.Ala103Thr, NP_001338253.1:p.Ala9Thr, NP_001338248.1:p.Ala47Thr, NP_001338249.1:p.Ala47Thr, NP_001338266.1:p.Ala103Thr, NP_001230618.1:p.Ala103Thr, NP_001338244.1:p.Ala110Thr, NP_001338251.1:p.Ala9Thr, NP_001338246.1:p.Ala103Thr, NP_001338245.1:p.Ala110Thr, NP_001338252.1:p.Ala9Thr, NP_001338241.1:p.Ala47Thr, NP_001338250.1:p.Ala103Thr, NP_001338257.1:p.Ala110Thr, NP_001287694.1:p.Ala103Thr, NP_001338262.1:p.Ala103Thr, XP_047284644.1:p.Ala103Thr, XP_047284643.1:p.Ala110Thr

              7.

              rs1472593873 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                12:51055862 (GRCh38)
                12:51449645 (GRCh37)
                Canonical SPDI:
                NC_000012.12:51055861:C:A,NC_000012.12:51055861:C:G
                Gene:
                LETMD1 (Varview)
                Functional Consequence:
                missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000057/2 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.51055862C>A, NC_000012.12:g.51055862C>G, NC_000012.11:g.51449645C>A, NC_000012.11:g.51449645C>G, NG_029858.2:g.12643C>A, NG_029858.2:g.12643C>G, NM_015416.5:c.501C>A, NM_015416.5:c.501C>G, NM_015416.4:c.501C>A, NM_015416.4:c.501C>G, NR_147119.2:n.1086C>A, NR_147119.2:n.1086C>G, NR_147119.1:n.1114C>A, NR_147119.1:n.1114C>G, NM_001351324.2:c.219C>A, NM_001351324.2:c.219C>G, NM_001351324.1:c.219C>A, NM_001351324.1:c.219C>G, NM_001351319.2:c.333C>A, NM_001351319.2:c.333C>G, NM_001351319.1:c.333C>A, NM_001351319.1:c.333C>G, NR_147118.2:n.1052C>A, NR_147118.2:n.1052C>G, NR_147118.1:n.1080C>A, NR_147118.1:n.1080C>G, NM_001351335.2:c.30C>A, NM_001351335.2:c.30C>G, NM_001351335.1:c.30C>A, NM_001351335.1:c.30C>G, NM_001351320.2:c.333C>A, NM_001351320.2:c.333C>G, NM_001351320.1:c.333C>A, NM_001351320.1:c.333C>G, NM_001351336.2:c.30C>A, NM_001351336.2:c.30C>G, NM_001351336.1:c.30C>A, NM_001351336.1:c.30C>G, NM_001351327.2:c.183C>A, NM_001351327.2:c.183C>G, NM_001351327.1:c.183C>A, NM_001351327.1:c.183C>G, NR_147104.2:n.887C>A, NR_147104.2:n.887C>G, NR_147104.1:n.915C>A, NR_147104.1:n.915C>G, NR_147107.2:n.887C>A, NR_147107.2:n.887C>G, NR_147107.1:n.915C>A, NR_147107.1:n.915C>G, NM_001243689.2:c.540C>A, NM_001243689.2:c.540C>G, NM_001243689.1:c.540C>A, NM_001243689.1:c.540C>G, NM_001351315.2:c.522C>A, NM_001351315.2:c.522C>G, NM_001351315.1:c.522C>A, NM_001351315.1:c.522C>G, NM_001351322.2:c.219C>A, NM_001351322.2:c.219C>G, NM_001351322.1:c.219C>A, NM_001351322.1:c.219C>G, NM_001351334.2:c.30C>A, NM_001351334.2:c.30C>G, NM_001351334.1:c.30C>A, NM_001351334.1:c.30C>G, NM_001351317.2:c.501C>A, NM_001351317.2:c.501C>G, NM_001351317.1:c.501C>A, NM_001351317.1:c.501C>G, NM_001351316.2:c.522C>A, NM_001351316.2:c.522C>G, NM_001351316.1:c.522C>A, NM_001351316.1:c.522C>G, NM_001351323.2:c.219C>A, NM_001351323.2:c.219C>G, NM_001351323.1:c.219C>A, NM_001351323.1:c.219C>G, NR_147108.2:n.448C>A, NR_147108.2:n.448C>G, NR_147108.1:n.476C>A, NR_147108.1:n.476C>G, NM_001351312.2:c.333C>A, NM_001351312.2:c.333C>G, NM_001351312.1:c.333C>A, NM_001351312.1:c.333C>G, NM_001351313.2:c.30C>A, NM_001351313.2:c.30C>G, NM_001351313.1:c.30C>A, NM_001351313.1:c.30C>G, NR_045019.2:n.332C>A, NR_045019.2:n.332C>G, NR_045019.1:n.360C>A, NR_045019.1:n.360C>G, NM_001351326.2:c.183C>A, NM_001351326.2:c.183C>G, NM_001351326.1:c.183C>A, NM_001351326.1:c.183C>G, NR_147106.2:n.225C>A, NR_147106.2:n.225C>G, NR_147106.1:n.253C>A, NR_147106.1:n.253C>G, NR_147110.2:n.180C>A, NR_147110.2:n.180C>G, NR_147110.1:n.208C>A, NR_147110.1:n.208C>G, NM_001351330.2:c.150C>A, NM_001351330.2:c.150C>G, NM_001351330.1:c.150C>A, NM_001351330.1:c.150C>G, XM_047428688.1:c.501C>A, XM_047428688.1:c.501C>G, NM_001351318.1:c.522C>A, NM_001351318.1:c.522C>G, NM_001024668.1:c.333C>A, NM_001024668.1:c.333C>G, NR_045018.1:n.443C>A, NR_045018.1:n.443C>G, NM_001024669.1:c.385C>A, NM_001024669.1:c.385C>G, NR_045017.1:n.434C>A, NR_045017.1:n.434C>G, NM_001024670.1:c.*2C>A, NM_001024670.1:c.*2C>G, XM_047428687.1:c.522C>A, XM_047428687.1:c.522C>G, NP_056231.3:p.Ile167Met, NP_001338253.1:p.Ile73Met, NP_001338248.1:p.Ile111Met, NP_001338264.1:p.Ile10Met, NP_001338249.1:p.Ile111Met, NP_001338265.1:p.Ile10Met, NP_001338256.1:p.Ile61Met, NP_001230618.1:p.Ile180Met, NP_001338244.1:p.Ile174Met, NP_001338251.1:p.Ile73Met, NP_001338263.1:p.Ile10Met, NP_001338246.1:p.Ile167Met, NP_001338245.1:p.Ile174Met, NP_001338252.1:p.Ile73Met, NP_001338241.1:p.Ile111Met, NP_001338242.1:p.Ile10Met, NP_001338255.1:p.Ile61Met, NP_001338259.1:p.Ile50Met, XP_047284644.1:p.Ile167Met, XP_047284643.1:p.Ile174Met

                8.

                rs1468941271 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TC>- [Show Flanks]
                  Chromosome:
                  12:51055972 (GRCh38)
                  12:51449755 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:51055968:CTCTC:CTC
                  Gene:
                  LETMD1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,non_coding_transcript_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CTC=0./0 (ALFA)
                  -=0.000004/1 (GnomAD_exomes)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000012.12:g.51055970TC[1], NC_000012.11:g.51449753TC[1], NG_029858.2:g.12751TC[1], NM_015416.5:c.611_612del, NM_015416.4:c.611_612del, NR_147119.2:n.1194TC[1], NR_147119.1:n.1222TC[1], NM_001351324.2:c.329_330del, NM_001351324.1:c.329_330del, NM_001351319.2:c.443_444del, NM_001351319.1:c.443_444del, NR_147118.2:n.1160TC[1], NR_147118.1:n.1188TC[1], NM_001351335.2:c.140_141del, NM_001351335.1:c.140_141del, NM_001351320.2:c.443_444del, NM_001351320.1:c.443_444del, NM_001351336.2:c.140_141del, NM_001351336.1:c.140_141del, NM_001351327.2:c.293_294del, NM_001351327.1:c.293_294del, NR_147104.2:n.995TC[1], NR_147104.1:n.1023TC[1], NR_147107.2:n.995TC[1], NR_147107.1:n.1023TC[1], NM_001243689.2:c.650_651del, NM_001243689.1:c.650_651del, NM_001351315.2:c.632_633del, NM_001351315.1:c.632_633del, NM_001351322.2:c.329_330del, NM_001351322.1:c.329_330del, NM_001351334.2:c.140_141del, NM_001351334.1:c.140_141del, NM_001351317.2:c.611_612del, NM_001351317.1:c.611_612del, NM_001351316.2:c.632_633del, NM_001351316.1:c.632_633del, NM_001351323.2:c.329_330del, NM_001351323.1:c.329_330del, NR_147108.2:n.556TC[1], NR_147108.1:n.584TC[1], NM_001351312.2:c.443_444del, NM_001351312.1:c.443_444del, NM_001351313.2:c.140_141del, NM_001351313.1:c.140_141del, NR_045019.2:n.440TC[1], NR_045019.1:n.468TC[1], NM_001351326.2:c.293_294del, NM_001351326.1:c.293_294del, NR_147106.2:n.333TC[1], NR_147106.1:n.361TC[1], NR_147110.2:n.288TC[1], NR_147110.1:n.316TC[1], NM_001351330.2:c.260_261del, NM_001351330.1:c.260_261del, XM_047428688.1:c.611_612del, NM_001351318.1:c.632_633del, NM_001024668.1:c.443_444del, NR_045018.1:n.551TC[1], NM_001024669.1:c.*76TC[1], NR_045017.1:n.542TC[1], NM_001024670.1:c.*110TC[1], XM_047428687.1:c.632_633del, NP_056231.3:p.Leu204fs, NP_001338253.1:p.Leu110fs, NP_001338248.1:p.Leu148fs, NP_001338264.1:p.Leu47fs, NP_001338249.1:p.Leu148fs, NP_001338265.1:p.Leu47fs, NP_001338256.1:p.Leu98fs, NP_001230618.1:p.Leu217fs, NP_001338244.1:p.Leu211fs, NP_001338251.1:p.Leu110fs, NP_001338263.1:p.Leu47fs, NP_001338246.1:p.Leu204fs, NP_001338245.1:p.Leu211fs, NP_001338252.1:p.Leu110fs, NP_001338241.1:p.Leu148fs, NP_001338242.1:p.Leu47fs, NP_001338255.1:p.Leu98fs, NP_001338259.1:p.Leu87fs, XP_047284644.1:p.Leu204fs, XP_047284643.1:p.Leu211fs

                  9.

                  rs1460258673 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:51059390 (GRCh38)
                    12:51453173 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:51059389:G:A
                    Gene:
                    LETMD1 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000012.12:g.51059390G>A, NC_000012.11:g.51453173G>A, NG_029858.2:g.16171G>A, NM_015416.5:c.1042G>A, NM_015416.4:c.1042G>A, NR_045020.3:n.584G>A, NR_045020.2:n.612G>A, NR_045020.1:n.612G>A, NR_147119.2:n.1635G>A, NR_147119.1:n.1663G>A, NM_001351324.2:c.760G>A, NM_001351324.1:c.760G>A, NM_001351319.2:c.874G>A, NM_001351319.1:c.874G>A, NR_147118.2:n.1601G>A, NR_147118.1:n.1629G>A, NM_001351335.2:c.571G>A, NM_001351335.1:c.571G>A, NM_001351320.2:c.777G>A, NM_001351320.1:c.777G>A, NM_001351336.2:c.571G>A, NM_001351336.1:c.571G>A, NM_001351327.2:c.724G>A, NM_001351327.1:c.724G>A, NR_147109.2:n.1475G>A, NR_147109.1:n.1503G>A, NR_147104.2:n.1428G>A, NR_147104.1:n.1456G>A, NR_147107.2:n.1425G>A, NR_147107.1:n.1453G>A, NR_147100.2:n.1392G>A, NR_147100.1:n.1420G>A, NR_147105.2:n.1255G>A, NR_147105.1:n.1283G>A, NR_147101.2:n.1241G>A, NR_147101.1:n.1269G>A, NR_147103.2:n.1165G>A, NR_147103.1:n.1193G>A, NR_147120.2:n.1139G>A, NR_147120.1:n.1167G>A, NM_001243689.2:c.1081G>A, NM_001243689.1:c.1081G>A, NM_001351315.2:c.1063G>A, NM_001351315.1:c.1063G>A, NM_001351322.2:c.760G>A, NM_001351322.1:c.760G>A, NM_001351334.2:c.571G>A, NM_001351334.1:c.571G>A, NM_001351317.2:c.*33G>A, NM_001351317.1:c.*33G>A, NM_001351316.2:c.966G>A, NM_001351316.1:c.966G>A, NM_001351323.2:c.760G>A, NM_001351323.1:c.760G>A, NR_147108.2:n.989G>A, NR_147108.1:n.1017G>A, NM_001351312.2:c.874G>A, NM_001351312.1:c.874G>A, NM_001351313.2:c.571G>A, NM_001351313.1:c.571G>A, NR_045019.2:n.873G>A, NR_045019.1:n.901G>A, NM_001351326.2:c.724G>A, NM_001351326.1:c.724G>A, NM_001351321.2:c.772G>A, NM_001351321.1:c.772G>A, NM_001351325.2:c.739G>A, NM_001351325.1:c.739G>A, NR_147106.2:n.766G>A, NR_147106.1:n.794G>A, NR_147110.2:n.747G>A, NR_147110.1:n.775G>A, NM_001351332.2:c.691G>A, NM_001351332.1:c.691G>A, NM_001351330.2:c.691G>A, NM_001351330.1:c.691G>A, NM_001351328.2:c.691G>A, NM_001351328.1:c.691G>A, NM_001300765.2:c.670G>A, NM_001300765.1:c.670G>A, NR_147114.2:n.612G>A, NR_147114.1:n.640G>A, NR_147115.2:n.610G>A, NR_147115.1:n.638G>A, NM_001351333.2:c.573G>A, NM_001351333.1:c.573G>A, NR_147112.2:n.581G>A, NR_147112.1:n.609G>A, NR_147099.2:n.579G>A, NR_147099.1:n.607G>A, NR_147111.2:n.534G>A, NR_147111.1:n.562G>A, NR_147116.2:n.487G>A, NR_147116.1:n.515G>A, NR_147113.2:n.477G>A, NR_147113.1:n.505G>A, NR_147117.2:n.440G>A, NR_147117.1:n.468G>A, NR_147102.2:n.432G>A, NR_147102.1:n.460G>A, NR_147098.1:n.511G>A, NM_001351318.1:c.966G>A, NM_001024668.1:c.874G>A, NR_045018.1:n.984G>A, NM_001024669.1:c.*509G>A, NR_045017.1:n.975G>A, NM_001024670.1:c.*543G>A, NM_001024671.1:c.*86G>A, NP_056231.3:p.Val348Met, NP_001338253.1:p.Val254Met, NP_001338248.1:p.Val292Met, NP_001338264.1:p.Val191Met, NP_001338265.1:p.Val191Met, NP_001338256.1:p.Val242Met, NP_001230618.1:p.Val361Met, NP_001338244.1:p.Val355Met, NP_001338251.1:p.Val254Met, NP_001338263.1:p.Val191Met, NP_001338252.1:p.Val254Met, NP_001338241.1:p.Val292Met, NP_001338242.1:p.Val191Met, NP_001338255.1:p.Val242Met, NP_001338250.1:p.Val258Met, NP_001338254.1:p.Val247Met, NP_001338261.1:p.Val231Met, NP_001338259.1:p.Val231Met, NP_001338257.1:p.Val231Met, NP_001287694.1:p.Val224Met

                    10.

                    rs1455883325 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:51049137 (GRCh38)
                      12:51442920 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:51049136:G:A
                      Gene:
                      LETMD1 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.51049137G>A, NC_000012.11:g.51442920G>A, NG_029858.2:g.5918G>A, NM_015416.5:c.226G>A, NM_015416.4:c.226G>A, NR_045020.3:n.256G>A, NR_045020.2:n.284G>A, NR_045020.1:n.284G>A, NR_147119.2:n.811G>A, NR_147119.1:n.839G>A, NM_001351324.2:c.-61G>A, NM_001351324.1:c.-61G>A, NM_001351319.2:c.58G>A, NM_001351319.1:c.58G>A, NR_147118.2:n.811G>A, NR_147118.1:n.839G>A, NM_001351335.2:c.-212G>A, NM_001351335.1:c.-212G>A, NM_001351320.2:c.58G>A, NM_001351320.1:c.58G>A, NM_001351336.2:c.-130G>A, NM_001351336.1:c.-130G>A, NM_001351327.2:c.58G>A, NM_001351327.1:c.58G>A, NR_147109.2:n.811G>A, NR_147109.1:n.839G>A, NR_147104.2:n.811G>A, NR_147104.1:n.839G>A, NR_147107.2:n.811G>A, NR_147107.1:n.839G>A, NR_147100.2:n.811G>A, NR_147100.1:n.839G>A, NR_147105.2:n.811G>A, NR_147105.1:n.839G>A, NR_147101.2:n.811G>A, NR_147101.1:n.839G>A, NM_001351337.2:c.226G>A, NM_001351337.1:c.226G>A, NR_147103.2:n.811G>A, NR_147103.1:n.839G>A, NR_147120.2:n.811G>A, NR_147120.1:n.839G>A, NM_001243689.2:c.226G>A, NM_001243689.1:c.226G>A, NM_001351315.2:c.247G>A, NM_001351315.1:c.247G>A, NM_001351322.2:c.-61G>A, NM_001351322.1:c.-61G>A, NM_001351334.2:c.-212G>A, NM_001351334.1:c.-212G>A, NM_001351317.2:c.226G>A, NM_001351317.1:c.226G>A, NM_001351316.2:c.247G>A, NM_001351316.1:c.247G>A, NM_001351323.2:c.-61G>A, NM_001351323.1:c.-61G>A, NR_147108.2:n.256G>A, NR_147108.1:n.284G>A, NM_001351312.2:c.58G>A, NM_001351312.1:c.58G>A, NM_001351313.2:c.-130G>A, NM_001351313.1:c.-130G>A, NR_045019.2:n.256G>A, NR_045019.1:n.284G>A, NM_001351326.2:c.58G>A, NM_001351326.1:c.58G>A, NM_001351321.2:c.226G>A, NM_001351321.1:c.226G>A, NM_001351325.2:c.226G>A, NM_001351325.1:c.226G>A, NR_147106.2:n.149G>A, NR_147106.1:n.177G>A, NM_001351332.2:c.226G>A, NM_001351332.1:c.226G>A, NM_001351328.2:c.247G>A, NM_001351328.1:c.247G>A, NM_001300765.2:c.226G>A, NM_001300765.1:c.226G>A, NR_147114.2:n.149G>A, NR_147114.1:n.177G>A, NR_147115.2:n.256G>A, NR_147115.1:n.284G>A, NM_001351333.2:c.226G>A, NM_001351333.1:c.226G>A, NR_147112.2:n.256G>A, NR_147112.1:n.284G>A, NR_147099.2:n.149G>A, NR_147099.1:n.177G>A, NR_147116.2:n.256G>A, NR_147116.1:n.284G>A, NR_147113.2:n.149G>A, NR_147113.1:n.177G>A, NR_147098.1:n.183G>A, XM_047428688.1:c.226G>A, NM_001351318.1:c.247G>A, NM_001024668.1:c.58G>A, NR_045018.1:n.284G>A, NM_001024669.1:c.226G>A, NR_045017.1:n.159G>A, NM_001024670.1:c.226G>A, NM_001024671.1:c.226G>A, XM_047428687.1:c.247G>A, NP_056231.3:p.Gly76Ser, NP_001338248.1:p.Gly20Ser, NP_001338249.1:p.Gly20Ser, NP_001338256.1:p.Gly20Ser, NP_001338266.1:p.Gly76Ser, NP_001230618.1:p.Gly76Ser, NP_001338244.1:p.Gly83Ser, NP_001338246.1:p.Gly76Ser, NP_001338245.1:p.Gly83Ser, NP_001338241.1:p.Gly20Ser, NP_001338255.1:p.Gly20Ser, NP_001338250.1:p.Gly76Ser, NP_001338254.1:p.Gly76Ser, NP_001338261.1:p.Gly76Ser, NP_001338257.1:p.Gly83Ser, NP_001287694.1:p.Gly76Ser, NP_001338262.1:p.Gly76Ser, XP_047284644.1:p.Gly76Ser, XP_047284643.1:p.Gly83Ser

                      11.

                      rs1442052323 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        12:51053780 (GRCh38)
                        12:51447563 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:51053779:C:A
                        Gene:
                        LETMD1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000012.12:g.51053780C>A, NC_000012.11:g.51447563C>A, NG_029858.2:g.10561C>A, NM_015416.5:c.393C>A, NM_015416.4:c.393C>A, NR_147119.2:n.978C>A, NR_147119.1:n.1006C>A, NM_001351324.2:c.111C>A, NM_001351324.1:c.111C>A, NM_001351319.2:c.225C>A, NM_001351319.1:c.225C>A, NM_001351320.2:c.225C>A, NM_001351320.1:c.225C>A, NM_001351336.2:c.-79C>A, NM_001351336.1:c.-79C>A, NR_147109.2:n.978C>A, NR_147109.1:n.1006C>A, NM_001243689.2:c.432C>A, NM_001243689.1:c.432C>A, NM_001351315.2:c.414C>A, NM_001351315.1:c.414C>A, NM_001351322.2:c.111C>A, NM_001351322.1:c.111C>A, NM_001351317.2:c.393C>A, NM_001351317.1:c.393C>A, NM_001351316.2:c.414C>A, NM_001351316.1:c.414C>A, NM_001351323.2:c.111C>A, NM_001351323.1:c.111C>A, NM_001351312.2:c.225C>A, NM_001351312.1:c.225C>A, NM_001351313.2:c.-79C>A, NM_001351313.1:c.-79C>A, NM_001351325.2:c.277C>A, NM_001351325.1:c.277C>A, XM_047428688.1:c.393C>A, NM_001351318.1:c.414C>A, NM_001024668.1:c.225C>A, NR_045018.1:n.335C>A, NM_001024669.1:c.277C>A, NR_045017.1:n.326C>A, XM_047428687.1:c.414C>A, NP_056231.3:p.Phe131Leu, NP_001338253.1:p.Phe37Leu, NP_001338248.1:p.Phe75Leu, NP_001338249.1:p.Phe75Leu, NP_001230618.1:p.Phe144Leu, NP_001338244.1:p.Phe138Leu, NP_001338251.1:p.Phe37Leu, NP_001338246.1:p.Phe131Leu, NP_001338245.1:p.Phe138Leu, NP_001338252.1:p.Phe37Leu, NP_001338241.1:p.Phe75Leu, NP_001338254.1:p.Pro93Thr, XP_047284644.1:p.Phe131Leu, XP_047284643.1:p.Phe138Leu

                        12.

                        rs1441491228 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          12:51049109 (GRCh38)
                          12:51442892 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:51049108:GA:
                          Gene:
                          LETMD1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,frameshift_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000008/2 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000012.12:g.51049109_51049110del, NC_000012.11:g.51442892_51442893del, NG_029858.2:g.5890_5891del, NM_015416.5:c.198_199del, NM_015416.4:c.198_199del, NR_045020.3:n.228_229del, NR_045020.2:n.256_257del, NR_045020.1:n.256_257del, NR_147119.2:n.783_784del, NR_147119.1:n.811_812del, NM_001351324.2:c.-89_-88del, NM_001351324.1:c.-89_-88del, NM_001351319.2:c.30_31del, NM_001351319.1:c.30_31del, NR_147118.2:n.783_784del, NR_147118.1:n.811_812del, NM_001351335.2:c.-240_-239del, NM_001351335.1:c.-240_-239del, NM_001351320.2:c.30_31del, NM_001351320.1:c.30_31del, NM_001351336.2:c.-158_-157del, NM_001351336.1:c.-158_-157del, NM_001351327.2:c.30_31del, NM_001351327.1:c.30_31del, NR_147109.2:n.783_784del, NR_147109.1:n.811_812del, NR_147104.2:n.783_784del, NR_147104.1:n.811_812del, NR_147107.2:n.783_784del, NR_147107.1:n.811_812del, NR_147100.2:n.783_784del, NR_147100.1:n.811_812del, NR_147105.2:n.783_784del, NR_147105.1:n.811_812del, NR_147101.2:n.783_784del, NR_147101.1:n.811_812del, NM_001351337.2:c.198_199del, NM_001351337.1:c.198_199del, NR_147103.2:n.783_784del, NR_147103.1:n.811_812del, NR_147120.2:n.783_784del, NR_147120.1:n.811_812del, NM_001243689.2:c.198_199del, NM_001243689.1:c.198_199del, NM_001351315.2:c.219_220del, NM_001351315.1:c.219_220del, NM_001351322.2:c.-89_-88del, NM_001351322.1:c.-89_-88del, NM_001351334.2:c.-240_-239del, NM_001351334.1:c.-240_-239del, NM_001351317.2:c.198_199del, NM_001351317.1:c.198_199del, NM_001351316.2:c.219_220del, NM_001351316.1:c.219_220del, NM_001351323.2:c.-89_-88del, NM_001351323.1:c.-89_-88del, NR_147108.2:n.228_229del, NR_147108.1:n.256_257del, NM_001351312.2:c.30_31del, NM_001351312.1:c.30_31del, NM_001351313.2:c.-158_-157del, NM_001351313.1:c.-158_-157del, NR_045019.2:n.228_229del, NR_045019.1:n.256_257del, NM_001351326.2:c.30_31del, NM_001351326.1:c.30_31del, NM_001351321.2:c.198_199del, NM_001351321.1:c.198_199del, NM_001351325.2:c.198_199del, NM_001351325.1:c.198_199del, NR_147106.2:n.121_122del, NR_147106.1:n.149_150del, NM_001351332.2:c.198_199del, NM_001351332.1:c.198_199del, NM_001351328.2:c.219_220del, NM_001351328.1:c.219_220del, NM_001300765.2:c.198_199del, NM_001300765.1:c.198_199del, NR_147114.2:n.121_122del, NR_147114.1:n.149_150del, NR_147115.2:n.228_229del, NR_147115.1:n.256_257del, NM_001351333.2:c.198_199del, NM_001351333.1:c.198_199del, NR_147112.2:n.228_229del, NR_147112.1:n.256_257del, NR_147099.2:n.121_122del, NR_147099.1:n.149_150del, NR_147116.2:n.228_229del, NR_147116.1:n.256_257del, NR_147113.2:n.121_122del, NR_147113.1:n.149_150del, NR_147098.1:n.155_156del, XM_047428688.1:c.198_199del, NM_001351318.1:c.219_220del, NM_001024668.1:c.30_31del, NR_045018.1:n.256_257del, NM_001024669.1:c.198_199del, NR_045017.1:n.131_132del, NM_001024670.1:c.198_199del, NM_001024671.1:c.198_199del, XM_047428687.1:c.219_220del, NP_056231.3:p.Ala66_Ile67insTer, NP_001338248.1:p.Ala10_Ile11insTer, NP_001338249.1:p.Ala10_Ile11insTer, NP_001338256.1:p.Ala10_Ile11insTer, NP_001338266.1:p.Ala66_Ile67insTer, NP_001230618.1:p.Ala66_Ile67insTer, NP_001338244.1:p.Ala73_Ile74insTer, NP_001338246.1:p.Ala66_Ile67insTer, NP_001338245.1:p.Ala73_Ile74insTer, NP_001338241.1:p.Ala10_Ile11insTer, NP_001338255.1:p.Ala10_Ile11insTer, NP_001338250.1:p.Ala66_Ile67insTer, NP_001338254.1:p.Ala66_Ile67insTer, NP_001338261.1:p.Ala66_Ile67insTer, NP_001338257.1:p.Ala73_Ile74insTer, NP_001287694.1:p.Ala66_Ile67insTer, NP_001338262.1:p.Ala66_Ile67insTer, XP_047284644.1:p.Ala66_Ile67insTer, XP_047284643.1:p.Ala73_Ile74insTer

                          13.

                          rs1437549970 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TG>- [Show Flanks]
                            Chromosome:
                            12:51049090 (GRCh38)
                            12:51442873 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:51049087:TGTG:TG
                            Gene:
                            LETMD1 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TGTG=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000012.12:g.51049088TG[1], NC_000012.11:g.51442871TG[1], NG_029858.2:g.5869TG[1], NM_015416.5:c.179_180del, NM_015416.4:c.179_180del, NR_045020.3:n.207TG[1], NR_045020.2:n.235TG[1], NR_045020.1:n.235TG[1], NR_147119.2:n.762TG[1], NR_147119.1:n.790TG[1], NM_001351324.2:c.-110TG[1], NM_001351324.1:c.-110TG[1], NM_001351319.2:c.11_12del, NM_001351319.1:c.11_12del, NR_147118.2:n.762TG[1], NR_147118.1:n.790TG[1], NM_001351335.2:c.-261TG[1], NM_001351335.1:c.-261TG[1], NM_001351320.2:c.11_12del, NM_001351320.1:c.11_12del, NM_001351336.2:c.-179TG[1], NM_001351336.1:c.-179TG[1], NM_001351327.2:c.11_12del, NM_001351327.1:c.11_12del, NR_147109.2:n.762TG[1], NR_147109.1:n.790TG[1], NR_147104.2:n.762TG[1], NR_147104.1:n.790TG[1], NR_147107.2:n.762TG[1], NR_147107.1:n.790TG[1], NR_147100.2:n.762TG[1], NR_147100.1:n.790TG[1], NR_147105.2:n.762TG[1], NR_147105.1:n.790TG[1], NR_147101.2:n.762TG[1], NR_147101.1:n.790TG[1], NM_001351337.2:c.179_180del, NM_001351337.1:c.179_180del, NR_147103.2:n.762TG[1], NR_147103.1:n.790TG[1], NR_147120.2:n.762TG[1], NR_147120.1:n.790TG[1], NM_001243689.2:c.179_180del, NM_001243689.1:c.179_180del, NM_001351315.2:c.200_201del, NM_001351315.1:c.200_201del, NM_001351322.2:c.-110TG[1], NM_001351322.1:c.-110TG[1], NM_001351334.2:c.-261TG[1], NM_001351334.1:c.-261TG[1], NM_001351317.2:c.179_180del, NM_001351317.1:c.179_180del, NM_001351316.2:c.200_201del, NM_001351316.1:c.200_201del, NM_001351323.2:c.-110TG[1], NM_001351323.1:c.-110TG[1], NR_147108.2:n.207TG[1], NR_147108.1:n.235TG[1], NM_001351312.2:c.11_12del, NM_001351312.1:c.11_12del, NM_001351313.2:c.-179TG[1], NM_001351313.1:c.-179TG[1], NR_045019.2:n.207TG[1], NR_045019.1:n.235TG[1], NM_001351326.2:c.11_12del, NM_001351326.1:c.11_12del, NM_001351321.2:c.179_180del, NM_001351321.1:c.179_180del, NM_001351325.2:c.179_180del, NM_001351325.1:c.179_180del, NR_147106.2:n.100TG[1], NR_147106.1:n.128TG[1], NM_001351332.2:c.179_180del, NM_001351332.1:c.179_180del, NM_001351328.2:c.200_201del, NM_001351328.1:c.200_201del, NM_001300765.2:c.179_180del, NM_001300765.1:c.179_180del, NR_147114.2:n.100TG[1], NR_147114.1:n.128TG[1], NR_147115.2:n.207TG[1], NR_147115.1:n.235TG[1], NM_001351333.2:c.179_180del, NM_001351333.1:c.179_180del, NR_147112.2:n.207TG[1], NR_147112.1:n.235TG[1], NR_147099.2:n.100TG[1], NR_147099.1:n.128TG[1], NR_147116.2:n.207TG[1], NR_147116.1:n.235TG[1], NR_147113.2:n.100TG[1], NR_147113.1:n.128TG[1], NR_147098.1:n.134TG[1], XM_047428688.1:c.179_180del, NM_001351318.1:c.200_201del, NM_001024668.1:c.11_12del, NR_045018.1:n.235TG[1], NM_001024669.1:c.179_180del, NR_045017.1:n.110TG[1], NM_001024670.1:c.179_180del, NM_001024671.1:c.179_180del, XM_047428687.1:c.200_201del, NP_056231.3:p.Val60fs, NP_001338248.1:p.Val4fs, NP_001338249.1:p.Val4fs, NP_001338256.1:p.Val4fs, NP_001338266.1:p.Val60fs, NP_001230618.1:p.Val60fs, NP_001338244.1:p.Val67fs, NP_001338246.1:p.Val60fs, NP_001338245.1:p.Val67fs, NP_001338241.1:p.Val4fs, NP_001338255.1:p.Val4fs, NP_001338250.1:p.Val60fs, NP_001338254.1:p.Val60fs, NP_001338261.1:p.Val60fs, NP_001338257.1:p.Val67fs, NP_001287694.1:p.Val60fs, NP_001338262.1:p.Val60fs, XP_047284644.1:p.Val60fs, XP_047284643.1:p.Val67fs

                            14.

                            rs1432586958 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              12:51055976 (GRCh38)
                              12:51449759 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:51055975:T:A
                              Gene:
                              LETMD1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.51055976T>A, NC_000012.11:g.51449759T>A, NG_029858.2:g.12757T>A, NM_015416.5:c.615T>A, NM_015416.4:c.615T>A, NR_147119.2:n.1200T>A, NR_147119.1:n.1228T>A, NM_001351324.2:c.333T>A, NM_001351324.1:c.333T>A, NM_001351319.2:c.447T>A, NM_001351319.1:c.447T>A, NR_147118.2:n.1166T>A, NR_147118.1:n.1194T>A, NM_001351335.2:c.144T>A, NM_001351335.1:c.144T>A, NM_001351320.2:c.447T>A, NM_001351320.1:c.447T>A, NM_001351336.2:c.144T>A, NM_001351336.1:c.144T>A, NM_001351327.2:c.297T>A, NM_001351327.1:c.297T>A, NR_147104.2:n.1001T>A, NR_147104.1:n.1029T>A, NR_147107.2:n.1001T>A, NR_147107.1:n.1029T>A, NM_001243689.2:c.654T>A, NM_001243689.1:c.654T>A, NM_001351315.2:c.636T>A, NM_001351315.1:c.636T>A, NM_001351322.2:c.333T>A, NM_001351322.1:c.333T>A, NM_001351334.2:c.144T>A, NM_001351334.1:c.144T>A, NM_001351317.2:c.615T>A, NM_001351317.1:c.615T>A, NM_001351316.2:c.636T>A, NM_001351316.1:c.636T>A, NM_001351323.2:c.333T>A, NM_001351323.1:c.333T>A, NR_147108.2:n.562T>A, NR_147108.1:n.590T>A, NM_001351312.2:c.447T>A, NM_001351312.1:c.447T>A, NM_001351313.2:c.144T>A, NM_001351313.1:c.144T>A, NR_045019.2:n.446T>A, NR_045019.1:n.474T>A, NM_001351326.2:c.297T>A, NM_001351326.1:c.297T>A, NR_147106.2:n.339T>A, NR_147106.1:n.367T>A, NR_147110.2:n.294T>A, NR_147110.1:n.322T>A, NM_001351330.2:c.264T>A, NM_001351330.1:c.264T>A, XM_047428688.1:c.615T>A, NM_001351318.1:c.636T>A, NM_001024668.1:c.447T>A, NR_045018.1:n.557T>A, NM_001024669.1:c.*82T>A, NR_045017.1:n.548T>A, NM_001024670.1:c.*116T>A, XM_047428687.1:c.636T>A

                              15.

                              rs1432566727 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                12:51059401 (GRCh38)
                                12:51453184 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:51059400:C:G
                                Gene:
                                LETMD1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_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_000012.12:g.51059401C>G, NC_000012.11:g.51453184C>G, NG_029858.2:g.16182C>G, NM_015416.5:c.1053C>G, NM_015416.4:c.1053C>G, NR_045020.3:n.595C>G, NR_045020.2:n.623C>G, NR_045020.1:n.623C>G, NR_147119.2:n.1646C>G, NR_147119.1:n.1674C>G, NM_001351324.2:c.771C>G, NM_001351324.1:c.771C>G, NM_001351319.2:c.885C>G, NM_001351319.1:c.885C>G, NR_147118.2:n.1612C>G, NR_147118.1:n.1640C>G, NM_001351335.2:c.582C>G, NM_001351335.1:c.582C>G, NM_001351320.2:c.788C>G, NM_001351320.1:c.788C>G, NM_001351336.2:c.582C>G, NM_001351336.1:c.582C>G, NM_001351327.2:c.735C>G, NM_001351327.1:c.735C>G, NR_147109.2:n.1486C>G, NR_147109.1:n.1514C>G, NR_147104.2:n.1439C>G, NR_147104.1:n.1467C>G, NR_147107.2:n.1436C>G, NR_147107.1:n.1464C>G, NR_147100.2:n.1403C>G, NR_147100.1:n.1431C>G, NR_147105.2:n.1266C>G, NR_147105.1:n.1294C>G, NR_147101.2:n.1252C>G, NR_147101.1:n.1280C>G, NR_147103.2:n.1176C>G, NR_147103.1:n.1204C>G, NR_147120.2:n.1150C>G, NR_147120.1:n.1178C>G, NM_001243689.2:c.1092C>G, NM_001243689.1:c.1092C>G, NM_001351315.2:c.1074C>G, NM_001351315.1:c.1074C>G, NM_001351322.2:c.771C>G, NM_001351322.1:c.771C>G, NM_001351334.2:c.582C>G, NM_001351334.1:c.582C>G, NM_001351317.2:c.*44C>G, NM_001351317.1:c.*44C>G, NM_001351316.2:c.977C>G, NM_001351316.1:c.977C>G, NM_001351323.2:c.771C>G, NM_001351323.1:c.771C>G, NR_147108.2:n.1000C>G, NR_147108.1:n.1028C>G, NM_001351312.2:c.885C>G, NM_001351312.1:c.885C>G, NM_001351313.2:c.582C>G, NM_001351313.1:c.582C>G, NR_045019.2:n.884C>G, NR_045019.1:n.912C>G, NM_001351326.2:c.735C>G, NM_001351326.1:c.735C>G, NM_001351321.2:c.783C>G, NM_001351321.1:c.783C>G, NM_001351325.2:c.750C>G, NM_001351325.1:c.750C>G, NR_147106.2:n.777C>G, NR_147106.1:n.805C>G, NR_147110.2:n.758C>G, NR_147110.1:n.786C>G, NM_001351332.2:c.702C>G, NM_001351332.1:c.702C>G, NM_001351330.2:c.702C>G, NM_001351330.1:c.702C>G, NM_001351328.2:c.702C>G, NM_001351328.1:c.702C>G, NM_001300765.2:c.681C>G, NM_001300765.1:c.681C>G, NR_147114.2:n.623C>G, NR_147114.1:n.651C>G, NR_147115.2:n.621C>G, NR_147115.1:n.649C>G, NM_001351333.2:c.584C>G, NM_001351333.1:c.584C>G, NR_147112.2:n.592C>G, NR_147112.1:n.620C>G, NR_147099.2:n.590C>G, NR_147099.1:n.618C>G, NR_147111.2:n.545C>G, NR_147111.1:n.573C>G, NR_147116.2:n.498C>G, NR_147116.1:n.526C>G, NR_147113.2:n.488C>G, NR_147113.1:n.516C>G, NR_147117.2:n.451C>G, NR_147117.1:n.479C>G, NR_147102.2:n.443C>G, NR_147102.1:n.471C>G, NR_147098.1:n.522C>G, NM_001351318.1:c.977C>G, NM_001024668.1:c.885C>G, NR_045018.1:n.995C>G, NM_001024669.1:c.*520C>G, NR_045017.1:n.986C>G, NM_001024670.1:c.*554C>G, NM_001024671.1:c.*97C>G, NP_001338249.1:p.Ser263Cys, NP_001338245.1:p.Ser326Cys, NP_001338262.1:p.Ser195Cys

                                16.

                                rs1425312129 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  12:51056177 (GRCh38)
                                  12:51449960 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:51056176:A:C
                                  Gene:
                                  LETMD1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000012.12:g.51056177A>C, NC_000012.11:g.51449960A>C, NG_029858.2:g.12958A>C, NM_015416.5:c.694A>C, NM_015416.4:c.694A>C, NR_147119.2:n.1279A>C, NR_147119.1:n.1307A>C, NM_001351324.2:c.412A>C, NM_001351324.1:c.412A>C, NM_001351319.2:c.526A>C, NM_001351319.1:c.526A>C, NR_147118.2:n.1245A>C, NR_147118.1:n.1273A>C, NM_001351335.2:c.223A>C, NM_001351335.1:c.223A>C, NM_001351320.2:c.526A>C, NM_001351320.1:c.526A>C, NM_001351336.2:c.223A>C, NM_001351336.1:c.223A>C, NM_001351327.2:c.376A>C, NM_001351327.1:c.376A>C, NR_147109.2:n.1127A>C, NR_147109.1:n.1155A>C, NR_147104.2:n.1080A>C, NR_147104.1:n.1108A>C, NR_147107.2:n.1080A>C, NR_147107.1:n.1108A>C, NR_147100.2:n.1044A>C, NR_147100.1:n.1072A>C, NR_147101.2:n.893A>C, NR_147101.1:n.921A>C, NM_001243689.2:c.733A>C, NM_001243689.1:c.733A>C, NM_001351315.2:c.715A>C, NM_001351315.1:c.715A>C, NM_001351322.2:c.412A>C, NM_001351322.1:c.412A>C, NM_001351334.2:c.223A>C, NM_001351334.1:c.223A>C, NM_001351317.2:c.694A>C, NM_001351317.1:c.694A>C, NM_001351316.2:c.715A>C, NM_001351316.1:c.715A>C, NM_001351323.2:c.412A>C, NM_001351323.1:c.412A>C, NR_147108.2:n.641A>C, NR_147108.1:n.669A>C, NM_001351312.2:c.526A>C, NM_001351312.1:c.526A>C, NM_001351313.2:c.223A>C, NM_001351313.1:c.223A>C, NR_045019.2:n.525A>C, NR_045019.1:n.553A>C, NM_001351326.2:c.376A>C, NM_001351326.1:c.376A>C, NM_001351321.2:c.424A>C, NM_001351321.1:c.424A>C, NM_001351325.2:c.391A>C, NM_001351325.1:c.391A>C, NR_147106.2:n.418A>C, NR_147106.1:n.446A>C, NR_147110.2:n.373A>C, NR_147110.1:n.401A>C, NM_001351332.2:c.343A>C, NM_001351332.1:c.343A>C, NM_001351330.2:c.343A>C, NM_001351330.1:c.343A>C, NR_147099.2:n.231A>C, NR_147099.1:n.259A>C, NR_147111.2:n.186A>C, NR_147111.1:n.214A>C, XM_047428688.1:c.694A>C, NM_001351318.1:c.715A>C, NM_001024668.1:c.526A>C, NR_045018.1:n.636A>C, NM_001024669.1:c.*161A>C, NR_045017.1:n.627A>C, NM_001024670.1:c.*195A>C, XM_047428687.1:c.715A>C, NP_056231.3:p.Ile232Leu, NP_001338253.1:p.Ile138Leu, NP_001338248.1:p.Ile176Leu, NP_001338264.1:p.Ile75Leu, NP_001338249.1:p.Ile176Leu, NP_001338265.1:p.Ile75Leu, NP_001338256.1:p.Ile126Leu, NP_001230618.1:p.Ile245Leu, NP_001338244.1:p.Ile239Leu, NP_001338251.1:p.Ile138Leu, NP_001338263.1:p.Ile75Leu, NP_001338246.1:p.Ile232Leu, NP_001338245.1:p.Ile239Leu, NP_001338252.1:p.Ile138Leu, NP_001338241.1:p.Ile176Leu, NP_001338242.1:p.Ile75Leu, NP_001338255.1:p.Ile126Leu, NP_001338250.1:p.Ile142Leu, NP_001338254.1:p.Ile131Leu, NP_001338261.1:p.Ile115Leu, NP_001338259.1:p.Ile115Leu, XP_047284644.1:p.Ile232Leu, XP_047284643.1:p.Ile239Leu

                                  17.

                                  rs1418687053 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    12:51055858 (GRCh38)
                                    12:51449641 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:51055857:T:G
                                    Gene:
                                    LETMD1 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                                    HGVS:
                                    NC_000012.12:g.51055858T>G, NC_000012.11:g.51449641T>G, NG_029858.2:g.12639T>G, NM_015416.5:c.497T>G, NM_015416.4:c.497T>G, NR_147119.2:n.1082T>G, NR_147119.1:n.1110T>G, NM_001351324.2:c.215T>G, NM_001351324.1:c.215T>G, NM_001351319.2:c.329T>G, NM_001351319.1:c.329T>G, NR_147118.2:n.1048T>G, NR_147118.1:n.1076T>G, NM_001351335.2:c.26T>G, NM_001351335.1:c.26T>G, NM_001351320.2:c.329T>G, NM_001351320.1:c.329T>G, NM_001351336.2:c.26T>G, NM_001351336.1:c.26T>G, NM_001351327.2:c.179T>G, NM_001351327.1:c.179T>G, NR_147104.2:n.883T>G, NR_147104.1:n.911T>G, NR_147107.2:n.883T>G, NR_147107.1:n.911T>G, NM_001243689.2:c.536T>G, NM_001243689.1:c.536T>G, NM_001351315.2:c.518T>G, NM_001351315.1:c.518T>G, NM_001351322.2:c.215T>G, NM_001351322.1:c.215T>G, NM_001351334.2:c.26T>G, NM_001351334.1:c.26T>G, NM_001351317.2:c.497T>G, NM_001351317.1:c.497T>G, NM_001351316.2:c.518T>G, NM_001351316.1:c.518T>G, NM_001351323.2:c.215T>G, NM_001351323.1:c.215T>G, NR_147108.2:n.444T>G, NR_147108.1:n.472T>G, NM_001351312.2:c.329T>G, NM_001351312.1:c.329T>G, NM_001351313.2:c.26T>G, NM_001351313.1:c.26T>G, NR_045019.2:n.328T>G, NR_045019.1:n.356T>G, NM_001351326.2:c.179T>G, NM_001351326.1:c.179T>G, NR_147106.2:n.221T>G, NR_147106.1:n.249T>G, NR_147110.2:n.176T>G, NR_147110.1:n.204T>G, NM_001351330.2:c.146T>G, NM_001351330.1:c.146T>G, XM_047428688.1:c.497T>G, NM_001351318.1:c.518T>G, NM_001024668.1:c.329T>G, NR_045018.1:n.439T>G, NM_001024669.1:c.381T>G, NR_045017.1:n.430T>G, NM_001024670.1:c.298T>G, XM_047428687.1:c.518T>G, NP_056231.3:p.Leu166Arg, NP_001338253.1:p.Leu72Arg, NP_001338248.1:p.Leu110Arg, NP_001338264.1:p.Leu9Arg, NP_001338249.1:p.Leu110Arg, NP_001338265.1:p.Leu9Arg, NP_001338256.1:p.Leu60Arg, NP_001230618.1:p.Leu179Arg, NP_001338244.1:p.Leu173Arg, NP_001338251.1:p.Leu72Arg, NP_001338263.1:p.Leu9Arg, NP_001338246.1:p.Leu166Arg, NP_001338245.1:p.Leu173Arg, NP_001338252.1:p.Leu72Arg, NP_001338241.1:p.Leu110Arg, NP_001338242.1:p.Leu9Arg, NP_001338255.1:p.Leu60Arg, NP_001338259.1:p.Leu49Arg, XP_047284644.1:p.Leu166Arg, XP_047284643.1:p.Leu173Arg

                                    18.

                                    rs1417803419 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:51049165 (GRCh38)
                                      12:51442948 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:51049164:T:C
                                      Gene:
                                      LETMD1 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000015/4 (TOPMED)
                                      C=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.51049165T>C, NC_000012.11:g.51442948T>C, NG_029858.2:g.5946T>C, NM_015416.5:c.254T>C, NM_015416.4:c.254T>C, NR_045020.3:n.284T>C, NR_045020.2:n.312T>C, NR_045020.1:n.312T>C, NR_147119.2:n.839T>C, NR_147119.1:n.867T>C, NM_001351324.2:c.-33T>C, NM_001351324.1:c.-33T>C, NM_001351319.2:c.86T>C, NM_001351319.1:c.86T>C, NR_147118.2:n.839T>C, NR_147118.1:n.867T>C, NM_001351335.2:c.-184T>C, NM_001351335.1:c.-184T>C, NM_001351320.2:c.86T>C, NM_001351320.1:c.86T>C, NM_001351336.2:c.-102T>C, NM_001351336.1:c.-102T>C, NM_001351327.2:c.86T>C, NM_001351327.1:c.86T>C, NR_147109.2:n.839T>C, NR_147109.1:n.867T>C, NR_147104.2:n.839T>C, NR_147104.1:n.867T>C, NR_147107.2:n.839T>C, NR_147107.1:n.867T>C, NR_147100.2:n.839T>C, NR_147100.1:n.867T>C, NR_147105.2:n.839T>C, NR_147105.1:n.867T>C, NR_147101.2:n.839T>C, NR_147101.1:n.867T>C, NM_001351337.2:c.254T>C, NM_001351337.1:c.254T>C, NR_147103.2:n.839T>C, NR_147103.1:n.867T>C, NR_147120.2:n.839T>C, NR_147120.1:n.867T>C, NM_001243689.2:c.254T>C, NM_001243689.1:c.254T>C, NM_001351315.2:c.275T>C, NM_001351315.1:c.275T>C, NM_001351322.2:c.-33T>C, NM_001351322.1:c.-33T>C, NM_001351334.2:c.-184T>C, NM_001351334.1:c.-184T>C, NM_001351317.2:c.254T>C, NM_001351317.1:c.254T>C, NM_001351316.2:c.275T>C, NM_001351316.1:c.275T>C, NM_001351323.2:c.-33T>C, NM_001351323.1:c.-33T>C, NR_147108.2:n.284T>C, NR_147108.1:n.312T>C, NM_001351312.2:c.86T>C, NM_001351312.1:c.86T>C, NM_001351313.2:c.-102T>C, NM_001351313.1:c.-102T>C, NR_045019.2:n.284T>C, NR_045019.1:n.312T>C, NM_001351326.2:c.86T>C, NM_001351326.1:c.86T>C, NM_001351321.2:c.254T>C, NM_001351321.1:c.254T>C, NM_001351325.2:c.254T>C, NM_001351325.1:c.254T>C, NR_147106.2:n.177T>C, NR_147106.1:n.205T>C, NM_001351332.2:c.254T>C, NM_001351332.1:c.254T>C, NM_001351328.2:c.275T>C, NM_001351328.1:c.275T>C, NM_001300765.2:c.254T>C, NM_001300765.1:c.254T>C, NR_147114.2:n.177T>C, NR_147114.1:n.205T>C, NR_147115.2:n.284T>C, NR_147115.1:n.312T>C, NM_001351333.2:c.254T>C, NM_001351333.1:c.254T>C, NR_147112.2:n.284T>C, NR_147112.1:n.312T>C, NR_147099.2:n.177T>C, NR_147099.1:n.205T>C, NR_147116.2:n.284T>C, NR_147116.1:n.312T>C, NR_147113.2:n.177T>C, NR_147113.1:n.205T>C, NR_147098.1:n.211T>C, XM_047428688.1:c.254T>C, NM_001351318.1:c.275T>C, NM_001024668.1:c.86T>C, NR_045018.1:n.312T>C, NM_001024669.1:c.254T>C, NR_045017.1:n.187T>C, NM_001024670.1:c.254T>C, NM_001024671.1:c.254T>C, XM_047428687.1:c.275T>C, NP_056231.3:p.Leu85Pro, NP_001338248.1:p.Leu29Pro, NP_001338249.1:p.Leu29Pro, NP_001338256.1:p.Leu29Pro, NP_001338266.1:p.Leu85Pro, NP_001230618.1:p.Leu85Pro, NP_001338244.1:p.Leu92Pro, NP_001338246.1:p.Leu85Pro, NP_001338245.1:p.Leu92Pro, NP_001338241.1:p.Leu29Pro, NP_001338255.1:p.Leu29Pro, NP_001338250.1:p.Leu85Pro, NP_001338254.1:p.Leu85Pro, NP_001338261.1:p.Leu85Pro, NP_001338257.1:p.Leu92Pro, NP_001287694.1:p.Leu85Pro, NP_001338262.1:p.Leu85Pro, XP_047284644.1:p.Leu85Pro, XP_047284643.1:p.Leu92Pro

                                      19.

                                      rs1398155972 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        12:51056148 (GRCh38)
                                        12:51449931 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:51056147:A:C,NC_000012.12:51056147:A:G
                                        Gene:
                                        LETMD1 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000012.12:g.51056148A>C, NC_000012.12:g.51056148A>G, NC_000012.11:g.51449931A>C, NC_000012.11:g.51449931A>G, NG_029858.2:g.12929A>C, NG_029858.2:g.12929A>G, NM_015416.5:c.665A>C, NM_015416.5:c.665A>G, NM_015416.4:c.665A>C, NM_015416.4:c.665A>G, NR_147119.2:n.1250A>C, NR_147119.2:n.1250A>G, NR_147119.1:n.1278A>C, NR_147119.1:n.1278A>G, NM_001351324.2:c.383A>C, NM_001351324.2:c.383A>G, NM_001351324.1:c.383A>C, NM_001351324.1:c.383A>G, NM_001351319.2:c.497A>C, NM_001351319.2:c.497A>G, NM_001351319.1:c.497A>C, NM_001351319.1:c.497A>G, NR_147118.2:n.1216A>C, NR_147118.2:n.1216A>G, NR_147118.1:n.1244A>C, NR_147118.1:n.1244A>G, NM_001351335.2:c.194A>C, NM_001351335.2:c.194A>G, NM_001351335.1:c.194A>C, NM_001351335.1:c.194A>G, NM_001351320.2:c.497A>C, NM_001351320.2:c.497A>G, NM_001351320.1:c.497A>C, NM_001351320.1:c.497A>G, NM_001351336.2:c.194A>C, NM_001351336.2:c.194A>G, NM_001351336.1:c.194A>C, NM_001351336.1:c.194A>G, NM_001351327.2:c.347A>C, NM_001351327.2:c.347A>G, NM_001351327.1:c.347A>C, NM_001351327.1:c.347A>G, NR_147109.2:n.1098A>C, NR_147109.2:n.1098A>G, NR_147109.1:n.1126A>C, NR_147109.1:n.1126A>G, NR_147104.2:n.1051A>C, NR_147104.2:n.1051A>G, NR_147104.1:n.1079A>C, NR_147104.1:n.1079A>G, NR_147107.2:n.1051A>C, NR_147107.2:n.1051A>G, NR_147107.1:n.1079A>C, NR_147107.1:n.1079A>G, NR_147100.2:n.1015A>C, NR_147100.2:n.1015A>G, NR_147100.1:n.1043A>C, NR_147100.1:n.1043A>G, NR_147101.2:n.864A>C, NR_147101.2:n.864A>G, NR_147101.1:n.892A>C, NR_147101.1:n.892A>G, NM_001243689.2:c.704A>C, NM_001243689.2:c.704A>G, NM_001243689.1:c.704A>C, NM_001243689.1:c.704A>G, NM_001351315.2:c.686A>C, NM_001351315.2:c.686A>G, NM_001351315.1:c.686A>C, NM_001351315.1:c.686A>G, NM_001351322.2:c.383A>C, NM_001351322.2:c.383A>G, NM_001351322.1:c.383A>C, NM_001351322.1:c.383A>G, NM_001351334.2:c.194A>C, NM_001351334.2:c.194A>G, NM_001351334.1:c.194A>C, NM_001351334.1:c.194A>G, NM_001351317.2:c.665A>C, NM_001351317.2:c.665A>G, NM_001351317.1:c.665A>C, NM_001351317.1:c.665A>G, NM_001351316.2:c.686A>C, NM_001351316.2:c.686A>G, NM_001351316.1:c.686A>C, NM_001351316.1:c.686A>G, NM_001351323.2:c.383A>C, NM_001351323.2:c.383A>G, NM_001351323.1:c.383A>C, NM_001351323.1:c.383A>G, NR_147108.2:n.612A>C, NR_147108.2:n.612A>G, NR_147108.1:n.640A>C, NR_147108.1:n.640A>G, NM_001351312.2:c.497A>C, NM_001351312.2:c.497A>G, NM_001351312.1:c.497A>C, NM_001351312.1:c.497A>G, NM_001351313.2:c.194A>C, NM_001351313.2:c.194A>G, NM_001351313.1:c.194A>C, NM_001351313.1:c.194A>G, NR_045019.2:n.496A>C, NR_045019.2:n.496A>G, NR_045019.1:n.524A>C, NR_045019.1:n.524A>G, NM_001351326.2:c.347A>C, NM_001351326.2:c.347A>G, NM_001351326.1:c.347A>C, NM_001351326.1:c.347A>G, NM_001351321.2:c.395A>C, NM_001351321.2:c.395A>G, NM_001351321.1:c.395A>C, NM_001351321.1:c.395A>G, NM_001351325.2:c.362A>C, NM_001351325.2:c.362A>G, NM_001351325.1:c.362A>C, NM_001351325.1:c.362A>G, NR_147106.2:n.389A>C, NR_147106.2:n.389A>G, NR_147106.1:n.417A>C, NR_147106.1:n.417A>G, NR_147110.2:n.344A>C, NR_147110.2:n.344A>G, NR_147110.1:n.372A>C, NR_147110.1:n.372A>G, NM_001351332.2:c.314A>C, NM_001351332.2:c.314A>G, NM_001351332.1:c.314A>C, NM_001351332.1:c.314A>G, NM_001351330.2:c.314A>C, NM_001351330.2:c.314A>G, NM_001351330.1:c.314A>C, NM_001351330.1:c.314A>G, NR_147099.2:n.202A>C, NR_147099.2:n.202A>G, NR_147099.1:n.230A>C, NR_147099.1:n.230A>G, NR_147111.2:n.157A>C, NR_147111.2:n.157A>G, NR_147111.1:n.185A>C, NR_147111.1:n.185A>G, XM_047428688.1:c.665A>C, XM_047428688.1:c.665A>G, NM_001351318.1:c.686A>C, NM_001351318.1:c.686A>G, NM_001024668.1:c.497A>C, NM_001024668.1:c.497A>G, NR_045018.1:n.607A>C, NR_045018.1:n.607A>G, NM_001024669.1:c.*132A>C, NM_001024669.1:c.*132A>G, NR_045017.1:n.598A>C, NR_045017.1:n.598A>G, NM_001024670.1:c.*166A>C, NM_001024670.1:c.*166A>G, XM_047428687.1:c.686A>C, XM_047428687.1:c.686A>G, NP_056231.3:p.Gln222Pro, NP_056231.3:p.Gln222Arg, NP_001338253.1:p.Gln128Pro, NP_001338253.1:p.Gln128Arg, NP_001338248.1:p.Gln166Pro, NP_001338248.1:p.Gln166Arg, NP_001338264.1:p.Gln65Pro, NP_001338264.1:p.Gln65Arg, NP_001338249.1:p.Gln166Pro, NP_001338249.1:p.Gln166Arg, NP_001338265.1:p.Gln65Pro, NP_001338265.1:p.Gln65Arg, NP_001338256.1:p.Gln116Pro, NP_001338256.1:p.Gln116Arg, NP_001230618.1:p.Gln235Pro, NP_001230618.1:p.Gln235Arg, NP_001338244.1:p.Gln229Pro, NP_001338244.1:p.Gln229Arg, NP_001338251.1:p.Gln128Pro, NP_001338251.1:p.Gln128Arg, NP_001338263.1:p.Gln65Pro, NP_001338263.1:p.Gln65Arg, NP_001338246.1:p.Gln222Pro, NP_001338246.1:p.Gln222Arg, NP_001338245.1:p.Gln229Pro, NP_001338245.1:p.Gln229Arg, NP_001338252.1:p.Gln128Pro, NP_001338252.1:p.Gln128Arg, NP_001338241.1:p.Gln166Pro, NP_001338241.1:p.Gln166Arg, NP_001338242.1:p.Gln65Pro, NP_001338242.1:p.Gln65Arg, NP_001338255.1:p.Gln116Pro, NP_001338255.1:p.Gln116Arg, NP_001338250.1:p.Gln132Pro, NP_001338250.1:p.Gln132Arg, NP_001338254.1:p.Gln121Pro, NP_001338254.1:p.Gln121Arg, NP_001338261.1:p.Gln105Pro, NP_001338261.1:p.Gln105Arg, NP_001338259.1:p.Gln105Pro, NP_001338259.1:p.Gln105Arg, XP_047284644.1:p.Gln222Pro, XP_047284644.1:p.Gln222Arg, XP_047284643.1:p.Gln229Pro, XP_047284643.1:p.Gln229Arg

                                        20.

                                        rs1395110514 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          12:51055882 (GRCh38)
                                          12:51449665 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:51055881:A:G,NC_000012.12:51055881:A:T
                                          Gene:
                                          LETMD1 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000028/1 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000012.12:g.51055882A>G, NC_000012.12:g.51055882A>T, NC_000012.11:g.51449665A>G, NC_000012.11:g.51449665A>T, NG_029858.2:g.12663A>G, NG_029858.2:g.12663A>T, NM_015416.5:c.521A>G, NM_015416.5:c.521A>T, NM_015416.4:c.521A>G, NM_015416.4:c.521A>T, NR_147119.2:n.1106A>G, NR_147119.2:n.1106A>T, NR_147119.1:n.1134A>G, NR_147119.1:n.1134A>T, NM_001351324.2:c.239A>G, NM_001351324.2:c.239A>T, NM_001351324.1:c.239A>G, NM_001351324.1:c.239A>T, NM_001351319.2:c.353A>G, NM_001351319.2:c.353A>T, NM_001351319.1:c.353A>G, NM_001351319.1:c.353A>T, NR_147118.2:n.1072A>G, NR_147118.2:n.1072A>T, NR_147118.1:n.1100A>G, NR_147118.1:n.1100A>T, NM_001351335.2:c.50A>G, NM_001351335.2:c.50A>T, NM_001351335.1:c.50A>G, NM_001351335.1:c.50A>T, NM_001351320.2:c.353A>G, NM_001351320.2:c.353A>T, NM_001351320.1:c.353A>G, NM_001351320.1:c.353A>T, NM_001351336.2:c.50A>G, NM_001351336.2:c.50A>T, NM_001351336.1:c.50A>G, NM_001351336.1:c.50A>T, NM_001351327.2:c.203A>G, NM_001351327.2:c.203A>T, NM_001351327.1:c.203A>G, NM_001351327.1:c.203A>T, NR_147104.2:n.907A>G, NR_147104.2:n.907A>T, NR_147104.1:n.935A>G, NR_147104.1:n.935A>T, NR_147107.2:n.907A>G, NR_147107.2:n.907A>T, NR_147107.1:n.935A>G, NR_147107.1:n.935A>T, NM_001243689.2:c.560A>G, NM_001243689.2:c.560A>T, NM_001243689.1:c.560A>G, NM_001243689.1:c.560A>T, NM_001351315.2:c.542A>G, NM_001351315.2:c.542A>T, NM_001351315.1:c.542A>G, NM_001351315.1:c.542A>T, NM_001351322.2:c.239A>G, NM_001351322.2:c.239A>T, NM_001351322.1:c.239A>G, NM_001351322.1:c.239A>T, NM_001351334.2:c.50A>G, NM_001351334.2:c.50A>T, NM_001351334.1:c.50A>G, NM_001351334.1:c.50A>T, NM_001351317.2:c.521A>G, NM_001351317.2:c.521A>T, NM_001351317.1:c.521A>G, NM_001351317.1:c.521A>T, NM_001351316.2:c.542A>G, NM_001351316.2:c.542A>T, NM_001351316.1:c.542A>G, NM_001351316.1:c.542A>T, NM_001351323.2:c.239A>G, NM_001351323.2:c.239A>T, NM_001351323.1:c.239A>G, NM_001351323.1:c.239A>T, NR_147108.2:n.468A>G, NR_147108.2:n.468A>T, NR_147108.1:n.496A>G, NR_147108.1:n.496A>T, NM_001351312.2:c.353A>G, NM_001351312.2:c.353A>T, NM_001351312.1:c.353A>G, NM_001351312.1:c.353A>T, NM_001351313.2:c.50A>G, NM_001351313.2:c.50A>T, NM_001351313.1:c.50A>G, NM_001351313.1:c.50A>T, NR_045019.2:n.352A>G, NR_045019.2:n.352A>T, NR_045019.1:n.380A>G, NR_045019.1:n.380A>T, NM_001351326.2:c.203A>G, NM_001351326.2:c.203A>T, NM_001351326.1:c.203A>G, NM_001351326.1:c.203A>T, NR_147106.2:n.245A>G, NR_147106.2:n.245A>T, NR_147106.1:n.273A>G, NR_147106.1:n.273A>T, NR_147110.2:n.200A>G, NR_147110.2:n.200A>T, NR_147110.1:n.228A>G, NR_147110.1:n.228A>T, NM_001351330.2:c.170A>G, NM_001351330.2:c.170A>T, NM_001351330.1:c.170A>G, NM_001351330.1:c.170A>T, XM_047428688.1:c.521A>G, XM_047428688.1:c.521A>T, NM_001351318.1:c.542A>G, NM_001351318.1:c.542A>T, NM_001024668.1:c.353A>G, NM_001024668.1:c.353A>T, NR_045018.1:n.463A>G, NR_045018.1:n.463A>T, NM_001024669.1:c.405A>G, NM_001024669.1:c.405A>T, NR_045017.1:n.454A>G, NR_045017.1:n.454A>T, NM_001024670.1:c.*22A>G, NM_001024670.1:c.*22A>T, XM_047428687.1:c.542A>G, XM_047428687.1:c.542A>T, NP_056231.3:p.Lys174Arg, NP_056231.3:p.Lys174Ile, NP_001338253.1:p.Lys80Arg, NP_001338253.1:p.Lys80Ile, NP_001338248.1:p.Lys118Arg, NP_001338248.1:p.Lys118Ile, NP_001338264.1:p.Lys17Arg, NP_001338264.1:p.Lys17Ile, NP_001338249.1:p.Lys118Arg, NP_001338249.1:p.Lys118Ile, NP_001338265.1:p.Lys17Arg, NP_001338265.1:p.Lys17Ile, NP_001338256.1:p.Lys68Arg, NP_001338256.1:p.Lys68Ile, NP_001230618.1:p.Lys187Arg, NP_001230618.1:p.Lys187Ile, NP_001338244.1:p.Lys181Arg, NP_001338244.1:p.Lys181Ile, NP_001338251.1:p.Lys80Arg, NP_001338251.1:p.Lys80Ile, NP_001338263.1:p.Lys17Arg, NP_001338263.1:p.Lys17Ile, NP_001338246.1:p.Lys174Arg, NP_001338246.1:p.Lys174Ile, NP_001338245.1:p.Lys181Arg, NP_001338245.1:p.Lys181Ile, NP_001338252.1:p.Lys80Arg, NP_001338252.1:p.Lys80Ile, NP_001338241.1:p.Lys118Arg, NP_001338241.1:p.Lys118Ile, NP_001338242.1:p.Lys17Arg, NP_001338242.1:p.Lys17Ile, NP_001338255.1:p.Lys68Arg, NP_001338255.1:p.Lys68Ile, NP_001338259.1:p.Lys57Arg, NP_001338259.1:p.Lys57Ile, XP_047284644.1:p.Lys174Arg, XP_047284644.1:p.Lys174Ile, XP_047284643.1:p.Lys181Arg, XP_047284643.1:p.Lys181Ile

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