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Items: 1 to 20 of 1370

1.

rs1490876355 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    13:75821505 (GRCh38)
    13:76395641 (GRCh37)
    Canonical SPDI:
    NC_000013.11:75821504:A:G
    Gene:
    LMO7 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000013.11:g.75821505A>G, NC_000013.10:g.76395641A>G, NM_005358.5:c.1690A>G, XM_011535095.3:c.835A>G, XM_011535095.2:c.1636A>G, XM_011535095.1:c.835A>G, NM_001306080.2:c.2536A>G, NM_001306080.1:c.2536A>G, NM_015842.2:c.1837A>G, NM_001366632.2:c.1837A>G, NM_001366632.1:c.1837A>G, NM_001366633.2:c.2410A>G, NM_001366633.1:c.2410A>G, NM_001366636.2:c.1555A>G, NM_001366636.1:c.1555A>G, NM_001366634.2:c.1555A>G, NM_001366634.1:c.1555A>G, XM_024449359.2:c.1555A>G, XM_024449359.1:c.1555A>G, XM_024449363.2:c.1417A>G, XM_024449363.1:c.805A>G, XM_047430323.1:c.2041A>G, XM_047430327.1:c.2041A>G, XM_047430314.1:c.2653A>G, XM_047430326.1:c.2041A>G, XM_047430315.1:c.2614A>G, XM_047430307.1:c.2041A>G, XM_047430329.1:c.1837A>G, XM_047430308.1:c.2041A>G, XM_047430309.1:c.2041A>G, XM_047430328.1:c.2041A>G, XM_047430310.1:c.2041A>G, XM_047430311.1:c.2041A>G, XM_047430312.1:c.2041A>G, XM_047430318.1:c.2449A>G, NM_001330583.1:c.1837A>G, XM_047430319.1:c.2410A>G, XM_047430316.1:c.1837A>G, XM_047430317.1:c.1837A>G, XM_047430320.1:c.1555A>G, XM_047430325.1:c.2167A>G, XM_047430321.1:c.1555A>G, XM_047430322.1:c.1555A>G, XM_047430324.1:c.1555A>G, XM_047430352.1:c.835A>G, XM_047430353.1:c.805A>G, XM_047430339.1:c.1447A>G, XM_047430330.1:c.805A>G, XM_047430341.1:c.1408A>G, XM_047430342.1:c.1447A>G, XM_047430344.1:c.1378A>G, XM_047430345.1:c.1408A>G, XM_047430331.1:c.835A>G, XM_047430346.1:c.1447A>G, XM_047430334.1:c.835A>G, XM_047430336.1:c.805A>G, XM_047430347.1:c.1408A>G, XM_047430348.1:c.1447A>G, XM_047430333.1:c.835A>G, XM_047430350.1:c.1408A>G, XM_047430349.1:c.1417A>G, XM_047430338.1:c.835A>G, XM_047430335.1:c.805A>G, XM_047430351.1:c.1447A>G, XM_047430337.1:c.835A>G, XM_047430340.1:c.805A>G, XM_047430343.1:c.805A>G, NM_015843.1:c.34A>G, NP_005349.3:p.Arg564Gly, XP_011533397.3:p.Arg279Gly, NP_001293009.1:p.Arg846Gly, NP_056667.2:p.Arg613Gly, NP_001353561.1:p.Arg613Gly, NP_001353562.1:p.Arg804Gly, NP_001353565.1:p.Arg519Gly, NP_001353563.1:p.Arg519Gly, XP_024305127.1:p.Arg519Gly, XP_024305131.2:p.Arg473Gly, XP_047286279.1:p.Arg681Gly, XP_047286283.1:p.Arg681Gly, XP_047286270.1:p.Arg885Gly, XP_047286282.1:p.Arg681Gly, XP_047286271.1:p.Arg872Gly, XP_047286263.1:p.Arg681Gly, XP_047286285.1:p.Arg613Gly, XP_047286264.1:p.Arg681Gly, XP_047286265.1:p.Arg681Gly, XP_047286284.1:p.Arg681Gly, XP_047286266.1:p.Arg681Gly, XP_047286267.1:p.Arg681Gly, XP_047286268.1:p.Arg681Gly, XP_047286274.1:p.Arg817Gly, NP_001317512.1:p.Arg613Gly, XP_047286275.1:p.Arg804Gly, XP_047286272.1:p.Arg613Gly, XP_047286273.1:p.Arg613Gly, XP_047286276.1:p.Arg519Gly, XP_047286281.1:p.Arg723Gly, XP_047286277.1:p.Arg519Gly, XP_047286278.1:p.Arg519Gly, XP_047286280.1:p.Arg519Gly, XP_047286308.1:p.Arg279Gly, XP_047286309.1:p.Arg269Gly, XP_047286295.1:p.Arg483Gly, XP_047286286.1:p.Arg269Gly, XP_047286297.1:p.Arg470Gly, XP_047286298.1:p.Arg483Gly, XP_047286300.1:p.Arg460Gly, XP_047286301.1:p.Arg470Gly, XP_047286287.1:p.Arg279Gly, XP_047286302.1:p.Arg483Gly, XP_047286290.1:p.Arg279Gly, XP_047286292.1:p.Arg269Gly, XP_047286303.1:p.Arg470Gly, XP_047286304.1:p.Arg483Gly, XP_047286289.1:p.Arg279Gly, XP_047286306.1:p.Arg470Gly, XP_047286305.1:p.Arg473Gly, XP_047286294.1:p.Arg279Gly, XP_047286291.1:p.Arg269Gly, XP_047286307.1:p.Arg483Gly, XP_047286293.1:p.Arg279Gly, XP_047286296.1:p.Arg269Gly, XP_047286299.1:p.Arg269Gly

    2.

    rs1490670959 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      13:75853271 (GRCh38)
      13:76427407 (GRCh37)
      Canonical SPDI:
      NC_000013.11:75853270:C:T
      Gene:
      LMO7 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000013.11:g.75853271C>T, NC_000013.10:g.76427407C>T, NM_005358.5:c.3698C>T, XM_011535095.3:c.2924C>T, XM_011535095.2:c.3725C>T, XM_011535095.1:c.2924C>T, NM_001306080.2:c.4544C>T, NM_001306080.1:c.4544C>T, NM_015842.2:c.3845C>T, NM_001366632.2:c.3845C>T, NM_001366632.1:c.3845C>T, NM_001366633.2:c.4418C>T, NM_001366633.1:c.4418C>T, NM_001366636.2:c.3563C>T, NM_001366636.1:c.3563C>T, NM_001366634.2:c.3563C>T, NM_001366634.1:c.3563C>T, XM_024449359.2:c.3644C>T, XM_024449359.1:c.3644C>T, XM_024449363.2:c.3506C>T, XM_024449363.1:c.2894C>T, XM_047430323.1:c.4172C>T, XM_047430327.1:c.4172C>T, XM_047430314.1:c.4784C>T, XM_047430326.1:c.4172C>T, XM_047430315.1:c.4745C>T, XM_047430307.1:c.4130C>T, XM_047430329.1:c.3968C>T, XM_047430308.1:c.4115C>T, XM_047430309.1:c.4091C>T, XM_047430328.1:c.4172C>T, XM_047430310.1:c.4073C>T, XM_047430311.1:c.4049C>T, XM_047430312.1:c.3992C>T, XM_047430318.1:c.4580C>T, NM_001330583.1:c.3845C>T, XM_047430319.1:c.4541C>T, XM_047430316.1:c.3887C>T, XM_047430317.1:c.3845C>T, XM_047430320.1:c.3686C>T, XM_047430325.1:c.4298C>T, XM_047430321.1:c.3605C>T, XM_047430322.1:c.3563C>T, XM_047430324.1:c.3563C>T, XM_047430352.1:c.2966C>T, XM_047430353.1:c.2837C>T, XM_047430339.1:c.3578C>T, XM_047430330.1:c.2936C>T, XM_047430341.1:c.3539C>T, XM_047430342.1:c.3536C>T, XM_047430344.1:c.3509C>T, XM_047430345.1:c.3497C>T, XM_047430331.1:c.2885C>T, XM_047430346.1:c.3497C>T, XM_047430334.1:c.2867C>T, XM_047430336.1:c.2855C>T, XM_047430347.1:c.3458C>T, XM_047430348.1:c.3455C>T, XM_047430333.1:c.2924C>T, XM_047430350.1:c.3416C>T, XM_047430349.1:c.3425C>T, XM_047430338.1:c.2786C>T, XM_047430335.1:c.2894C>T, XM_047430351.1:c.3398C>T, XM_047430337.1:c.2843C>T, XM_047430340.1:c.2813C>T, XM_047430343.1:c.2756C>T, NM_015843.1:c.2042C>T, NP_005349.3:p.Pro1233Leu, XP_011533397.3:p.Pro975Leu, NP_001293009.1:p.Pro1515Leu, NP_056667.2:p.Pro1282Leu, NP_001353561.1:p.Pro1282Leu, NP_001353562.1:p.Pro1473Leu, NP_001353565.1:p.Pro1188Leu, NP_001353563.1:p.Pro1188Leu, XP_024305127.1:p.Pro1215Leu, XP_024305131.2:p.Pro1169Leu, XP_047286279.1:p.Pro1391Leu, XP_047286283.1:p.Pro1391Leu, XP_047286270.1:p.Pro1595Leu, XP_047286282.1:p.Pro1391Leu, XP_047286271.1:p.Pro1582Leu, XP_047286263.1:p.Pro1377Leu, XP_047286285.1:p.Pro1323Leu, XP_047286264.1:p.Pro1372Leu, XP_047286265.1:p.Pro1364Leu, XP_047286284.1:p.Pro1391Leu, XP_047286266.1:p.Pro1358Leu, XP_047286267.1:p.Pro1350Leu, XP_047286268.1:p.Pro1331Leu, XP_047286274.1:p.Pro1527Leu, NP_001317512.1:p.Pro1282Leu, XP_047286275.1:p.Pro1514Leu, XP_047286272.1:p.Pro1296Leu, XP_047286273.1:p.Pro1282Leu, XP_047286276.1:p.Pro1229Leu, XP_047286281.1:p.Pro1433Leu, XP_047286277.1:p.Pro1202Leu, XP_047286278.1:p.Pro1188Leu, XP_047286280.1:p.Pro1188Leu, XP_047286308.1:p.Pro989Leu, XP_047286309.1:p.Pro946Leu, XP_047286295.1:p.Pro1193Leu, XP_047286286.1:p.Pro979Leu, XP_047286297.1:p.Pro1180Leu, XP_047286298.1:p.Pro1179Leu, XP_047286300.1:p.Pro1170Leu, XP_047286301.1:p.Pro1166Leu, XP_047286287.1:p.Pro962Leu, XP_047286302.1:p.Pro1166Leu, XP_047286290.1:p.Pro956Leu, XP_047286292.1:p.Pro952Leu, XP_047286303.1:p.Pro1153Leu, XP_047286304.1:p.Pro1152Leu, XP_047286289.1:p.Pro975Leu, XP_047286306.1:p.Pro1139Leu, XP_047286305.1:p.Pro1142Leu, XP_047286294.1:p.Pro929Leu, XP_047286291.1:p.Pro965Leu, XP_047286307.1:p.Pro1133Leu, XP_047286293.1:p.Pro948Leu, XP_047286296.1:p.Pro938Leu, XP_047286299.1:p.Pro919Leu

      3.

      rs1490485750 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        13:75804527 (GRCh38)
        13:76378663 (GRCh37)
        Canonical SPDI:
        NC_000013.11:75804526:T:C
        Gene:
        LMO7 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000013.11:g.75804527T>C, NC_000013.10:g.76378663T>C, NM_005358.5:c.1056T>C, XM_011535095.3:c.201T>C, XM_011535095.2:c.1002T>C, XM_011535095.1:c.201T>C, NM_001306080.2:c.900T>C, NM_001306080.1:c.900T>C, NM_015842.2:c.201T>C, NM_001366632.2:c.201T>C, NM_001366632.1:c.201T>C, NM_001366633.2:c.774T>C, NM_001366633.1:c.774T>C, NM_001366636.2:c.201T>C, NM_001366636.1:c.201T>C, NM_001366634.2:c.201T>C, NM_001366634.1:c.201T>C, XM_024449359.2:c.201T>C, XM_024449359.1:c.201T>C, XM_024449363.2:c.813T>C, XM_024449363.1:c.201T>C, XM_047430323.1:c.201T>C, XM_047430327.1:c.201T>C, XM_047430314.1:c.813T>C, XM_047430326.1:c.201T>C, XM_047430315.1:c.774T>C, XM_047430307.1:c.201T>C, XM_047430329.1:c.201T>C, XM_047430308.1:c.201T>C, XM_047430309.1:c.201T>C, XM_047430328.1:c.201T>C, XM_047430310.1:c.201T>C, XM_047430311.1:c.201T>C, XM_047430312.1:c.201T>C, XM_047430318.1:c.813T>C, NM_001330583.1:c.201T>C, XM_047430319.1:c.774T>C, XM_047430316.1:c.201T>C, XM_047430317.1:c.201T>C, XM_047430320.1:c.201T>C, XM_047430325.1:c.813T>C, XM_047430321.1:c.201T>C, XM_047430322.1:c.201T>C, XM_047430324.1:c.201T>C, XM_047430352.1:c.201T>C, XM_047430353.1:c.201T>C, XM_047430339.1:c.813T>C, XM_047430330.1:c.201T>C, XM_047430341.1:c.774T>C, XM_047430342.1:c.813T>C, XM_047430344.1:c.774T>C, XM_047430345.1:c.774T>C, XM_047430331.1:c.201T>C, XM_047430346.1:c.813T>C, XM_047430334.1:c.201T>C, XM_047430336.1:c.201T>C, XM_047430347.1:c.774T>C, XM_047430348.1:c.813T>C, XM_047430333.1:c.201T>C, XM_047430350.1:c.774T>C, XM_047430349.1:c.813T>C, XM_047430338.1:c.201T>C, XM_047430335.1:c.201T>C, XM_047430351.1:c.813T>C, XM_047430337.1:c.201T>C, XM_047430340.1:c.201T>C, XM_047430343.1:c.201T>C

        4.

        rs1489868796 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          13:75819438 (GRCh38)
          13:76393574 (GRCh37)
          Canonical SPDI:
          NC_000013.11:75819437:C:G,NC_000013.11:75819437:C:T
          Gene:
          LMO7 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          C=0.5/1 (SGDP_PRJ)
          HGVS:
          NC_000013.11:g.75819438C>G, NC_000013.11:g.75819438C>T, NC_000013.10:g.76393574C>G, NC_000013.10:g.76393574C>T, NM_005358.5:c.1264C>G, NM_005358.5:c.1264C>T, XM_011535095.3:c.409C>G, XM_011535095.3:c.409C>T, XM_011535095.2:c.1210C>G, XM_011535095.2:c.1210C>T, XM_011535095.1:c.409C>G, XM_011535095.1:c.409C>T, NM_001306080.2:c.2110C>G, NM_001306080.2:c.2110C>T, NM_001306080.1:c.2110C>G, NM_001306080.1:c.2110C>T, NM_015842.2:c.1411C>G, NM_015842.2:c.1411C>T, NM_001366632.2:c.1411C>G, NM_001366632.2:c.1411C>T, NM_001366632.1:c.1411C>G, NM_001366632.1:c.1411C>T, NM_001366633.2:c.1984C>G, NM_001366633.2:c.1984C>T, NM_001366633.1:c.1984C>G, NM_001366633.1:c.1984C>T, NM_001366636.2:c.1129C>G, NM_001366636.2:c.1129C>T, NM_001366636.1:c.1129C>G, NM_001366636.1:c.1129C>T, NM_001366634.2:c.1129C>G, NM_001366634.2:c.1129C>T, NM_001366634.1:c.1129C>G, NM_001366634.1:c.1129C>T, XM_024449359.2:c.1129C>G, XM_024449359.2:c.1129C>T, XM_024449359.1:c.1129C>G, XM_024449359.1:c.1129C>T, XM_024449363.2:c.991C>G, XM_024449363.2:c.991C>T, XM_024449363.1:c.379C>G, XM_024449363.1:c.379C>T, XM_047430323.1:c.1615C>G, XM_047430323.1:c.1615C>T, XM_047430327.1:c.1615C>G, XM_047430327.1:c.1615C>T, XM_047430314.1:c.2227C>G, XM_047430314.1:c.2227C>T, XM_047430326.1:c.1615C>G, XM_047430326.1:c.1615C>T, XM_047430315.1:c.2188C>G, XM_047430315.1:c.2188C>T, XM_047430307.1:c.1615C>G, XM_047430307.1:c.1615C>T, XM_047430329.1:c.1411C>G, XM_047430329.1:c.1411C>T, XM_047430308.1:c.1615C>G, XM_047430308.1:c.1615C>T, XM_047430309.1:c.1615C>G, XM_047430309.1:c.1615C>T, XM_047430328.1:c.1615C>G, XM_047430328.1:c.1615C>T, XM_047430310.1:c.1615C>G, XM_047430310.1:c.1615C>T, XM_047430311.1:c.1615C>G, XM_047430311.1:c.1615C>T, XM_047430312.1:c.1615C>G, XM_047430312.1:c.1615C>T, XM_047430318.1:c.2023C>G, XM_047430318.1:c.2023C>T, NM_001330583.1:c.1411C>G, NM_001330583.1:c.1411C>T, XM_047430319.1:c.1984C>G, XM_047430319.1:c.1984C>T, XM_047430316.1:c.1411C>G, XM_047430316.1:c.1411C>T, XM_047430317.1:c.1411C>G, XM_047430317.1:c.1411C>T, XM_047430320.1:c.1129C>G, XM_047430320.1:c.1129C>T, XM_047430325.1:c.1741C>G, XM_047430325.1:c.1741C>T, XM_047430321.1:c.1129C>G, XM_047430321.1:c.1129C>T, XM_047430322.1:c.1129C>G, XM_047430322.1:c.1129C>T, XM_047430324.1:c.1129C>G, XM_047430324.1:c.1129C>T, XM_047430352.1:c.409C>G, XM_047430352.1:c.409C>T, XM_047430353.1:c.379C>G, XM_047430353.1:c.379C>T, XM_047430339.1:c.1021C>G, XM_047430339.1:c.1021C>T, XM_047430330.1:c.379C>G, XM_047430330.1:c.379C>T, XM_047430341.1:c.982C>G, XM_047430341.1:c.982C>T, XM_047430342.1:c.1021C>G, XM_047430342.1:c.1021C>T, XM_047430344.1:c.952C>G, XM_047430344.1:c.952C>T, XM_047430345.1:c.982C>G, XM_047430345.1:c.982C>T, XM_047430331.1:c.409C>G, XM_047430331.1:c.409C>T, XM_047430346.1:c.1021C>G, XM_047430346.1:c.1021C>T, XM_047430334.1:c.409C>G, XM_047430334.1:c.409C>T, XM_047430336.1:c.379C>G, XM_047430336.1:c.379C>T, XM_047430347.1:c.982C>G, XM_047430347.1:c.982C>T, XM_047430348.1:c.1021C>G, XM_047430348.1:c.1021C>T, XM_047430333.1:c.409C>G, XM_047430333.1:c.409C>T, XM_047430350.1:c.982C>G, XM_047430350.1:c.982C>T, XM_047430349.1:c.991C>G, XM_047430349.1:c.991C>T, XM_047430338.1:c.409C>G, XM_047430338.1:c.409C>T, XM_047430335.1:c.379C>G, XM_047430335.1:c.379C>T, XM_047430351.1:c.1021C>G, XM_047430351.1:c.1021C>T, XM_047430337.1:c.409C>G, XM_047430337.1:c.409C>T, XM_047430340.1:c.379C>G, XM_047430340.1:c.379C>T, XM_047430343.1:c.379C>G, XM_047430343.1:c.379C>T, NP_005349.3:p.Leu422Val, XP_011533397.3:p.Leu137Val, NP_001293009.1:p.Leu704Val, NP_056667.2:p.Leu471Val, NP_001353561.1:p.Leu471Val, NP_001353562.1:p.Leu662Val, NP_001353565.1:p.Leu377Val, NP_001353563.1:p.Leu377Val, XP_024305127.1:p.Leu377Val, XP_024305131.2:p.Leu331Val, XP_047286279.1:p.Leu539Val, XP_047286283.1:p.Leu539Val, XP_047286270.1:p.Leu743Val, XP_047286282.1:p.Leu539Val, XP_047286271.1:p.Leu730Val, XP_047286263.1:p.Leu539Val, XP_047286285.1:p.Leu471Val, XP_047286264.1:p.Leu539Val, XP_047286265.1:p.Leu539Val, XP_047286284.1:p.Leu539Val, XP_047286266.1:p.Leu539Val, XP_047286267.1:p.Leu539Val, XP_047286268.1:p.Leu539Val, XP_047286274.1:p.Leu675Val, NP_001317512.1:p.Leu471Val, XP_047286275.1:p.Leu662Val, XP_047286272.1:p.Leu471Val, XP_047286273.1:p.Leu471Val, XP_047286276.1:p.Leu377Val, XP_047286281.1:p.Leu581Val, XP_047286277.1:p.Leu377Val, XP_047286278.1:p.Leu377Val, XP_047286280.1:p.Leu377Val, XP_047286308.1:p.Leu137Val, XP_047286309.1:p.Leu127Val, XP_047286295.1:p.Leu341Val, XP_047286286.1:p.Leu127Val, XP_047286297.1:p.Leu328Val, XP_047286298.1:p.Leu341Val, XP_047286300.1:p.Leu318Val, XP_047286301.1:p.Leu328Val, XP_047286287.1:p.Leu137Val, XP_047286302.1:p.Leu341Val, XP_047286290.1:p.Leu137Val, XP_047286292.1:p.Leu127Val, XP_047286303.1:p.Leu328Val, XP_047286304.1:p.Leu341Val, XP_047286289.1:p.Leu137Val, XP_047286306.1:p.Leu328Val, XP_047286305.1:p.Leu331Val, XP_047286294.1:p.Leu137Val, XP_047286291.1:p.Leu127Val, XP_047286307.1:p.Leu341Val, XP_047286293.1:p.Leu137Val, XP_047286296.1:p.Leu127Val, XP_047286299.1:p.Leu127Val

          5.

          rs1489678737 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            13:75841790 (GRCh38)
            13:76415926 (GRCh37)
            Canonical SPDI:
            NC_000013.11:75841789:G:A
            Gene:
            LMO7 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000111/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000013.11:g.75841790G>A, NC_000013.10:g.76415926G>A, NM_005358.5:c.2992G>A, XM_011535095.3:c.2218G>A, XM_011535095.2:c.3019G>A, XM_011535095.1:c.2218G>A, NM_001306080.2:c.3838G>A, NM_001306080.1:c.3838G>A, NM_015842.2:c.3139G>A, NM_001366632.2:c.3139G>A, NM_001366632.1:c.3139G>A, NM_001366633.2:c.3712G>A, NM_001366633.1:c.3712G>A, NM_001366636.2:c.2857G>A, NM_001366636.1:c.2857G>A, NM_001366634.2:c.2857G>A, NM_001366634.1:c.2857G>A, XM_024449359.2:c.2938G>A, XM_024449359.1:c.2938G>A, XM_024449363.2:c.2800G>A, XM_024449363.1:c.2188G>A, XM_047430323.1:c.3466G>A, XM_047430327.1:c.3466G>A, XM_047430314.1:c.4078G>A, XM_047430326.1:c.3466G>A, XM_047430315.1:c.4039G>A, XM_047430307.1:c.3424G>A, XM_047430329.1:c.3262G>A, XM_047430308.1:c.3409G>A, XM_047430309.1:c.3385G>A, XM_047430328.1:c.3466G>A, XM_047430310.1:c.3367G>A, XM_047430311.1:c.3343G>A, XM_047430312.1:c.3286G>A, XM_047430318.1:c.3874G>A, NM_001330583.1:c.3139G>A, XM_047430319.1:c.3835G>A, XM_047430316.1:c.3181G>A, XM_047430317.1:c.3139G>A, XM_047430320.1:c.2980G>A, XM_047430325.1:c.3592G>A, XM_047430321.1:c.2899G>A, XM_047430322.1:c.2857G>A, XM_047430324.1:c.2857G>A, XM_047430352.1:c.2260G>A, XM_047430353.1:c.2131G>A, XM_047430339.1:c.2872G>A, XM_047430330.1:c.2230G>A, XM_047430341.1:c.2833G>A, XM_047430342.1:c.2830G>A, XM_047430344.1:c.2803G>A, XM_047430345.1:c.2791G>A, XM_047430331.1:c.2179G>A, XM_047430346.1:c.2791G>A, XM_047430334.1:c.2161G>A, XM_047430336.1:c.2149G>A, XM_047430347.1:c.2752G>A, XM_047430348.1:c.2749G>A, XM_047430333.1:c.2218G>A, XM_047430350.1:c.2710G>A, XM_047430349.1:c.2719G>A, XM_047430338.1:c.2080G>A, XM_047430335.1:c.2188G>A, XM_047430351.1:c.2692G>A, XM_047430337.1:c.2137G>A, XM_047430340.1:c.2107G>A, XM_047430343.1:c.2050G>A, NM_015843.1:c.1336G>A, NP_005349.3:p.Glu998Lys, XP_011533397.3:p.Glu740Lys, NP_001293009.1:p.Glu1280Lys, NP_056667.2:p.Glu1047Lys, NP_001353561.1:p.Glu1047Lys, NP_001353562.1:p.Glu1238Lys, NP_001353565.1:p.Glu953Lys, NP_001353563.1:p.Glu953Lys, XP_024305127.1:p.Glu980Lys, XP_024305131.2:p.Glu934Lys, XP_047286279.1:p.Glu1156Lys, XP_047286283.1:p.Glu1156Lys, XP_047286270.1:p.Glu1360Lys, XP_047286282.1:p.Glu1156Lys, XP_047286271.1:p.Glu1347Lys, XP_047286263.1:p.Glu1142Lys, XP_047286285.1:p.Glu1088Lys, XP_047286264.1:p.Glu1137Lys, XP_047286265.1:p.Glu1129Lys, XP_047286284.1:p.Glu1156Lys, XP_047286266.1:p.Glu1123Lys, XP_047286267.1:p.Glu1115Lys, XP_047286268.1:p.Glu1096Lys, XP_047286274.1:p.Glu1292Lys, NP_001317512.1:p.Glu1047Lys, XP_047286275.1:p.Glu1279Lys, XP_047286272.1:p.Glu1061Lys, XP_047286273.1:p.Glu1047Lys, XP_047286276.1:p.Glu994Lys, XP_047286281.1:p.Glu1198Lys, XP_047286277.1:p.Glu967Lys, XP_047286278.1:p.Glu953Lys, XP_047286280.1:p.Glu953Lys, XP_047286308.1:p.Glu754Lys, XP_047286309.1:p.Glu711Lys, XP_047286295.1:p.Glu958Lys, XP_047286286.1:p.Glu744Lys, XP_047286297.1:p.Glu945Lys, XP_047286298.1:p.Glu944Lys, XP_047286300.1:p.Glu935Lys, XP_047286301.1:p.Glu931Lys, XP_047286287.1:p.Glu727Lys, XP_047286302.1:p.Glu931Lys, XP_047286290.1:p.Glu721Lys, XP_047286292.1:p.Glu717Lys, XP_047286303.1:p.Glu918Lys, XP_047286304.1:p.Glu917Lys, XP_047286289.1:p.Glu740Lys, XP_047286306.1:p.Glu904Lys, XP_047286305.1:p.Glu907Lys, XP_047286294.1:p.Glu694Lys, XP_047286291.1:p.Glu730Lys, XP_047286307.1:p.Glu898Lys, XP_047286293.1:p.Glu713Lys, XP_047286296.1:p.Glu703Lys, XP_047286299.1:p.Glu684Lys

            6.

            rs1488246558 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              13:75821217 (GRCh38)
              13:76395353 (GRCh37)
              Canonical SPDI:
              NC_000013.11:75821216:A:C
              Gene:
              LMO7 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.75821217A>C, NC_000013.10:g.76395353A>C, NM_005358.5:c.1402A>C, XM_011535095.3:c.547A>C, XM_011535095.2:c.1348A>C, XM_011535095.1:c.547A>C, NM_001306080.2:c.2248A>C, NM_001306080.1:c.2248A>C, NM_015842.2:c.1549A>C, NM_001366632.2:c.1549A>C, NM_001366632.1:c.1549A>C, NM_001366633.2:c.2122A>C, NM_001366633.1:c.2122A>C, NM_001366636.2:c.1267A>C, NM_001366636.1:c.1267A>C, NM_001366634.2:c.1267A>C, NM_001366634.1:c.1267A>C, XM_024449359.2:c.1267A>C, XM_024449359.1:c.1267A>C, XM_024449363.2:c.1129A>C, XM_024449363.1:c.517A>C, XM_047430323.1:c.1753A>C, XM_047430327.1:c.1753A>C, XM_047430314.1:c.2365A>C, XM_047430326.1:c.1753A>C, XM_047430315.1:c.2326A>C, XM_047430307.1:c.1753A>C, XM_047430329.1:c.1549A>C, XM_047430308.1:c.1753A>C, XM_047430309.1:c.1753A>C, XM_047430328.1:c.1753A>C, XM_047430310.1:c.1753A>C, XM_047430311.1:c.1753A>C, XM_047430312.1:c.1753A>C, XM_047430318.1:c.2161A>C, NM_001330583.1:c.1549A>C, XM_047430319.1:c.2122A>C, XM_047430316.1:c.1549A>C, XM_047430317.1:c.1549A>C, XM_047430320.1:c.1267A>C, XM_047430325.1:c.1879A>C, XM_047430321.1:c.1267A>C, XM_047430322.1:c.1267A>C, XM_047430324.1:c.1267A>C, XM_047430352.1:c.547A>C, XM_047430353.1:c.517A>C, XM_047430339.1:c.1159A>C, XM_047430330.1:c.517A>C, XM_047430341.1:c.1120A>C, XM_047430342.1:c.1159A>C, XM_047430344.1:c.1090A>C, XM_047430345.1:c.1120A>C, XM_047430331.1:c.547A>C, XM_047430346.1:c.1159A>C, XM_047430334.1:c.547A>C, XM_047430336.1:c.517A>C, XM_047430347.1:c.1120A>C, XM_047430348.1:c.1159A>C, XM_047430333.1:c.547A>C, XM_047430350.1:c.1120A>C, XM_047430349.1:c.1129A>C, XM_047430338.1:c.547A>C, XM_047430335.1:c.517A>C, XM_047430351.1:c.1159A>C, XM_047430337.1:c.547A>C, XM_047430340.1:c.517A>C, XM_047430343.1:c.517A>C, NM_015843.1:c.-256A>C

              7.

              rs1487626067 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                13:75808001 (GRCh38)
                13:76382137 (GRCh37)
                Canonical SPDI:
                NC_000013.11:75808000:G:T
                Gene:
                LMO7 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000013.11:g.75808001G>T, NC_000013.10:g.76382137G>T, NM_001306080.2:c.1718G>T, NM_001306080.1:c.1718G>T, NM_015842.2:c.1019G>T, NM_001366632.2:c.1019G>T, NM_001366632.1:c.1019G>T, NM_001366633.2:c.1592G>T, NM_001366633.1:c.1592G>T, NM_001366636.2:c.737G>T, NM_001366636.1:c.737G>T, NM_001366634.2:c.737G>T, NM_001366634.1:c.737G>T, XM_024449359.2:c.737G>T, XM_024449359.1:c.737G>T, XM_047430323.1:c.1223G>T, XM_047430327.1:c.1223G>T, XM_047430314.1:c.1835G>T, XM_047430326.1:c.1223G>T, XM_047430315.1:c.1796G>T, XM_047430307.1:c.1223G>T, XM_047430329.1:c.1019G>T, XM_047430308.1:c.1223G>T, XM_047430309.1:c.1223G>T, XM_047430328.1:c.1223G>T, XM_047430310.1:c.1223G>T, XM_047430311.1:c.1223G>T, XM_047430312.1:c.1223G>T, XM_047430318.1:c.1631G>T, NM_001330583.1:c.1019G>T, XM_047430319.1:c.1592G>T, XM_047430316.1:c.1019G>T, XM_047430317.1:c.1019G>T, XM_047430320.1:c.737G>T, XM_047430325.1:c.1349G>T, XM_047430321.1:c.737G>T, XM_047430322.1:c.737G>T, XM_047430324.1:c.737G>T, NP_001293009.1:p.Ser573Ile, NP_056667.2:p.Ser340Ile, NP_001353561.1:p.Ser340Ile, NP_001353562.1:p.Ser531Ile, NP_001353565.1:p.Ser246Ile, NP_001353563.1:p.Ser246Ile, XP_024305127.1:p.Ser246Ile, XP_047286279.1:p.Ser408Ile, XP_047286283.1:p.Ser408Ile, XP_047286270.1:p.Ser612Ile, XP_047286282.1:p.Ser408Ile, XP_047286271.1:p.Ser599Ile, XP_047286263.1:p.Ser408Ile, XP_047286285.1:p.Ser340Ile, XP_047286264.1:p.Ser408Ile, XP_047286265.1:p.Ser408Ile, XP_047286284.1:p.Ser408Ile, XP_047286266.1:p.Ser408Ile, XP_047286267.1:p.Ser408Ile, XP_047286268.1:p.Ser408Ile, XP_047286274.1:p.Ser544Ile, NP_001317512.1:p.Ser340Ile, XP_047286275.1:p.Ser531Ile, XP_047286272.1:p.Ser340Ile, XP_047286273.1:p.Ser340Ile, XP_047286276.1:p.Ser246Ile, XP_047286281.1:p.Ser450Ile, XP_047286277.1:p.Ser246Ile, XP_047286278.1:p.Ser246Ile, XP_047286280.1:p.Ser246Ile

                8.

                rs1486836176 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  13:75834278 (GRCh38)
                  13:76408414 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:75834277:T:C
                  Gene:
                  LMO7 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000013.11:g.75834278T>C, NC_000013.10:g.76408414T>C, NM_005358.5:c.2271T>C, XM_011535095.3:c.1416T>C, XM_011535095.2:c.2217T>C, XM_011535095.1:c.1416T>C, NM_001306080.2:c.3117T>C, NM_001306080.1:c.3117T>C, NM_015842.2:c.2418T>C, NM_001366632.2:c.2418T>C, NM_001366632.1:c.2418T>C, NM_001366633.2:c.2991T>C, NM_001366633.1:c.2991T>C, NM_001366636.2:c.2136T>C, NM_001366636.1:c.2136T>C, NM_001366634.2:c.2136T>C, NM_001366634.1:c.2136T>C, XM_024449359.2:c.2136T>C, XM_024449359.1:c.2136T>C, XM_024449363.2:c.1998T>C, XM_024449363.1:c.1386T>C, XM_047430323.1:c.2622T>C, XM_047430327.1:c.2622T>C, XM_047430314.1:c.3234T>C, XM_047430326.1:c.2622T>C, XM_047430315.1:c.3195T>C, XM_047430307.1:c.2622T>C, XM_047430329.1:c.2418T>C, XM_047430308.1:c.2622T>C, XM_047430309.1:c.2622T>C, XM_047430328.1:c.2622T>C, XM_047430310.1:c.2622T>C, XM_047430311.1:c.2622T>C, XM_047430312.1:c.2622T>C, XM_047430318.1:c.3030T>C, NM_001330583.1:c.2418T>C, XM_047430319.1:c.2991T>C, XM_047430316.1:c.2418T>C, XM_047430317.1:c.2418T>C, XM_047430320.1:c.2136T>C, XM_047430325.1:c.2748T>C, XM_047430321.1:c.2136T>C, XM_047430322.1:c.2136T>C, XM_047430324.1:c.2136T>C, XM_047430352.1:c.1416T>C, XM_047430353.1:c.1386T>C, XM_047430339.1:c.2028T>C, XM_047430330.1:c.1386T>C, XM_047430341.1:c.1989T>C, XM_047430342.1:c.2028T>C, XM_047430344.1:c.1959T>C, XM_047430345.1:c.1989T>C, XM_047430331.1:c.1416T>C, XM_047430346.1:c.2028T>C, XM_047430334.1:c.1416T>C, XM_047430336.1:c.1386T>C, XM_047430347.1:c.1989T>C, XM_047430348.1:c.2028T>C, XM_047430333.1:c.1416T>C, XM_047430350.1:c.1989T>C, XM_047430349.1:c.1998T>C, XM_047430338.1:c.1416T>C, XM_047430335.1:c.1386T>C, XM_047430351.1:c.2028T>C, XM_047430337.1:c.1416T>C, XM_047430340.1:c.1386T>C, XM_047430343.1:c.1386T>C, NM_015843.1:c.615T>C

                  9.

                  rs1485530073 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    13:75849117 (GRCh38)
                    13:76423253 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:75849116:T:A
                    Gene:
                    LMO7 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.75849117T>A, NC_000013.10:g.76423253T>A, NM_005358.5:c.3343T>A, XM_011535095.3:c.2569T>A, XM_011535095.2:c.3370T>A, XM_011535095.1:c.2569T>A, NM_001306080.2:c.4189T>A, NM_001306080.1:c.4189T>A, NM_015842.2:c.3490T>A, NM_001366632.2:c.3490T>A, NM_001366632.1:c.3490T>A, NM_001366633.2:c.4063T>A, NM_001366633.1:c.4063T>A, NM_001366636.2:c.3208T>A, NM_001366636.1:c.3208T>A, NM_001366634.2:c.3208T>A, NM_001366634.1:c.3208T>A, XM_024449359.2:c.3289T>A, XM_024449359.1:c.3289T>A, XM_024449363.2:c.3151T>A, XM_024449363.1:c.2539T>A, XM_047430323.1:c.3817T>A, XM_047430327.1:c.3817T>A, XM_047430314.1:c.4429T>A, XM_047430326.1:c.3817T>A, XM_047430315.1:c.4390T>A, XM_047430307.1:c.3775T>A, XM_047430329.1:c.3613T>A, XM_047430308.1:c.3760T>A, XM_047430309.1:c.3736T>A, XM_047430328.1:c.3817T>A, XM_047430310.1:c.3718T>A, XM_047430311.1:c.3694T>A, XM_047430312.1:c.3637T>A, XM_047430318.1:c.4225T>A, NM_001330583.1:c.3490T>A, XM_047430319.1:c.4186T>A, XM_047430316.1:c.3532T>A, XM_047430317.1:c.3490T>A, XM_047430320.1:c.3331T>A, XM_047430325.1:c.3943T>A, XM_047430321.1:c.3250T>A, XM_047430322.1:c.3208T>A, XM_047430324.1:c.3208T>A, XM_047430352.1:c.2611T>A, XM_047430353.1:c.2482T>A, XM_047430339.1:c.3223T>A, XM_047430330.1:c.2581T>A, XM_047430341.1:c.3184T>A, XM_047430342.1:c.3181T>A, XM_047430344.1:c.3154T>A, XM_047430345.1:c.3142T>A, XM_047430331.1:c.2530T>A, XM_047430346.1:c.3142T>A, XM_047430334.1:c.2512T>A, XM_047430336.1:c.2500T>A, XM_047430347.1:c.3103T>A, XM_047430348.1:c.3100T>A, XM_047430333.1:c.2569T>A, XM_047430350.1:c.3061T>A, XM_047430349.1:c.3070T>A, XM_047430338.1:c.2431T>A, XM_047430335.1:c.2539T>A, XM_047430351.1:c.3043T>A, XM_047430337.1:c.2488T>A, XM_047430340.1:c.2458T>A, XM_047430343.1:c.2401T>A, NM_015843.1:c.1687T>A, NP_005349.3:p.Ser1115Thr, XP_011533397.3:p.Ser857Thr, NP_001293009.1:p.Ser1397Thr, NP_056667.2:p.Ser1164Thr, NP_001353561.1:p.Ser1164Thr, NP_001353562.1:p.Ser1355Thr, NP_001353565.1:p.Ser1070Thr, NP_001353563.1:p.Ser1070Thr, XP_024305127.1:p.Ser1097Thr, XP_024305131.2:p.Ser1051Thr, XP_047286279.1:p.Ser1273Thr, XP_047286283.1:p.Ser1273Thr, XP_047286270.1:p.Ser1477Thr, XP_047286282.1:p.Ser1273Thr, XP_047286271.1:p.Ser1464Thr, XP_047286263.1:p.Ser1259Thr, XP_047286285.1:p.Ser1205Thr, XP_047286264.1:p.Ser1254Thr, XP_047286265.1:p.Ser1246Thr, XP_047286284.1:p.Ser1273Thr, XP_047286266.1:p.Ser1240Thr, XP_047286267.1:p.Ser1232Thr, XP_047286268.1:p.Ser1213Thr, XP_047286274.1:p.Ser1409Thr, NP_001317512.1:p.Ser1164Thr, XP_047286275.1:p.Ser1396Thr, XP_047286272.1:p.Ser1178Thr, XP_047286273.1:p.Ser1164Thr, XP_047286276.1:p.Ser1111Thr, XP_047286281.1:p.Ser1315Thr, XP_047286277.1:p.Ser1084Thr, XP_047286278.1:p.Ser1070Thr, XP_047286280.1:p.Ser1070Thr, XP_047286308.1:p.Ser871Thr, XP_047286309.1:p.Ser828Thr, XP_047286295.1:p.Ser1075Thr, XP_047286286.1:p.Ser861Thr, XP_047286297.1:p.Ser1062Thr, XP_047286298.1:p.Ser1061Thr, XP_047286300.1:p.Ser1052Thr, XP_047286301.1:p.Ser1048Thr, XP_047286287.1:p.Ser844Thr, XP_047286302.1:p.Ser1048Thr, XP_047286290.1:p.Ser838Thr, XP_047286292.1:p.Ser834Thr, XP_047286303.1:p.Ser1035Thr, XP_047286304.1:p.Ser1034Thr, XP_047286289.1:p.Ser857Thr, XP_047286306.1:p.Ser1021Thr, XP_047286305.1:p.Ser1024Thr, XP_047286294.1:p.Ser811Thr, XP_047286291.1:p.Ser847Thr, XP_047286307.1:p.Ser1015Thr, XP_047286293.1:p.Ser830Thr, XP_047286296.1:p.Ser820Thr, XP_047286299.1:p.Ser801Thr

                    10.

                    rs1485453907 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      13:75804429 (GRCh38)
                      13:76378565 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:75804428:C:G
                      Gene:
                      LMO7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000013.11:g.75804429C>G, NC_000013.10:g.76378565C>G, NM_005358.5:c.958C>G, XM_011535095.3:c.103C>G, XM_011535095.2:c.904C>G, XM_011535095.1:c.103C>G, NM_001306080.2:c.802C>G, NM_001306080.1:c.802C>G, NM_015842.2:c.103C>G, NM_001366632.2:c.103C>G, NM_001366632.1:c.103C>G, NM_001366633.2:c.676C>G, NM_001366633.1:c.676C>G, NM_001366636.2:c.103C>G, NM_001366636.1:c.103C>G, NM_001366634.2:c.103C>G, NM_001366634.1:c.103C>G, XM_024449359.2:c.103C>G, XM_024449359.1:c.103C>G, XM_024449363.2:c.715C>G, XM_024449363.1:c.103C>G, XM_047430323.1:c.103C>G, XM_047430327.1:c.103C>G, XM_047430314.1:c.715C>G, XM_047430326.1:c.103C>G, XM_047430315.1:c.676C>G, XM_047430307.1:c.103C>G, XM_047430329.1:c.103C>G, XM_047430308.1:c.103C>G, XM_047430309.1:c.103C>G, XM_047430328.1:c.103C>G, XM_047430310.1:c.103C>G, XM_047430311.1:c.103C>G, XM_047430312.1:c.103C>G, XM_047430318.1:c.715C>G, NM_001330583.1:c.103C>G, XM_047430319.1:c.676C>G, XM_047430316.1:c.103C>G, XM_047430317.1:c.103C>G, XM_047430320.1:c.103C>G, XM_047430325.1:c.715C>G, XM_047430321.1:c.103C>G, XM_047430322.1:c.103C>G, XM_047430324.1:c.103C>G, XM_047430352.1:c.103C>G, XM_047430353.1:c.103C>G, XM_047430339.1:c.715C>G, XM_047430330.1:c.103C>G, XM_047430341.1:c.676C>G, XM_047430342.1:c.715C>G, XM_047430344.1:c.676C>G, XM_047430345.1:c.676C>G, XM_047430331.1:c.103C>G, XM_047430346.1:c.715C>G, XM_047430334.1:c.103C>G, XM_047430336.1:c.103C>G, XM_047430347.1:c.676C>G, XM_047430348.1:c.715C>G, XM_047430333.1:c.103C>G, XM_047430350.1:c.676C>G, XM_047430349.1:c.715C>G, XM_047430338.1:c.103C>G, XM_047430335.1:c.103C>G, XM_047430351.1:c.715C>G, XM_047430337.1:c.103C>G, XM_047430340.1:c.103C>G, XM_047430343.1:c.103C>G, NP_005349.3:p.Gln320Glu, XP_011533397.3:p.Gln35Glu, NP_001293009.1:p.Gln268Glu, NP_056667.2:p.Gln35Glu, NP_001353561.1:p.Gln35Glu, NP_001353562.1:p.Gln226Glu, NP_001353565.1:p.Gln35Glu, NP_001353563.1:p.Gln35Glu, XP_024305127.1:p.Gln35Glu, XP_024305131.2:p.Gln239Glu, XP_047286279.1:p.Gln35Glu, XP_047286283.1:p.Gln35Glu, XP_047286270.1:p.Gln239Glu, XP_047286282.1:p.Gln35Glu, XP_047286271.1:p.Gln226Glu, XP_047286263.1:p.Gln35Glu, XP_047286285.1:p.Gln35Glu, XP_047286264.1:p.Gln35Glu, XP_047286265.1:p.Gln35Glu, XP_047286284.1:p.Gln35Glu, XP_047286266.1:p.Gln35Glu, XP_047286267.1:p.Gln35Glu, XP_047286268.1:p.Gln35Glu, XP_047286274.1:p.Gln239Glu, NP_001317512.1:p.Gln35Glu, XP_047286275.1:p.Gln226Glu, XP_047286272.1:p.Gln35Glu, XP_047286273.1:p.Gln35Glu, XP_047286276.1:p.Gln35Glu, XP_047286281.1:p.Gln239Glu, XP_047286277.1:p.Gln35Glu, XP_047286278.1:p.Gln35Glu, XP_047286280.1:p.Gln35Glu, XP_047286308.1:p.Gln35Glu, XP_047286309.1:p.Gln35Glu, XP_047286295.1:p.Gln239Glu, XP_047286286.1:p.Gln35Glu, XP_047286297.1:p.Gln226Glu, XP_047286298.1:p.Gln239Glu, XP_047286300.1:p.Gln226Glu, XP_047286301.1:p.Gln226Glu, XP_047286287.1:p.Gln35Glu, XP_047286302.1:p.Gln239Glu, XP_047286290.1:p.Gln35Glu, XP_047286292.1:p.Gln35Glu, XP_047286303.1:p.Gln226Glu, XP_047286304.1:p.Gln239Glu, XP_047286289.1:p.Gln35Glu, XP_047286306.1:p.Gln226Glu, XP_047286305.1:p.Gln239Glu, XP_047286294.1:p.Gln35Glu, XP_047286291.1:p.Gln35Glu, XP_047286307.1:p.Gln239Glu, XP_047286293.1:p.Gln35Glu, XP_047286296.1:p.Gln35Glu, XP_047286299.1:p.Gln35Glu

                      11.

                      rs1484819066 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:75805634 (GRCh38)
                        13:76379770 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:75805633:T:C
                        Gene:
                        LMO7 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000013.11:g.75805634T>C, NC_000013.10:g.76379770T>C, NM_001306080.2:c.1070T>C, NM_001306080.1:c.1070T>C, NM_015842.2:c.371T>C, NM_001366632.2:c.371T>C, NM_001366632.1:c.371T>C, NM_001366633.2:c.944T>C, NM_001366633.1:c.944T>C, XM_047430323.1:c.371T>C, XM_047430327.1:c.371T>C, XM_047430314.1:c.983T>C, XM_047430326.1:c.371T>C, XM_047430315.1:c.944T>C, XM_047430307.1:c.371T>C, XM_047430329.1:c.371T>C, XM_047430308.1:c.371T>C, XM_047430309.1:c.371T>C, XM_047430328.1:c.371T>C, XM_047430310.1:c.371T>C, XM_047430311.1:c.371T>C, XM_047430312.1:c.371T>C, XM_047430318.1:c.983T>C, NM_001330583.1:c.371T>C, XM_047430319.1:c.944T>C, XM_047430316.1:c.371T>C, XM_047430317.1:c.371T>C, NP_001293009.1:p.Val357Ala, NP_056667.2:p.Val124Ala, NP_001353561.1:p.Val124Ala, NP_001353562.1:p.Val315Ala, XP_047286279.1:p.Val124Ala, XP_047286283.1:p.Val124Ala, XP_047286270.1:p.Val328Ala, XP_047286282.1:p.Val124Ala, XP_047286271.1:p.Val315Ala, XP_047286263.1:p.Val124Ala, XP_047286285.1:p.Val124Ala, XP_047286264.1:p.Val124Ala, XP_047286265.1:p.Val124Ala, XP_047286284.1:p.Val124Ala, XP_047286266.1:p.Val124Ala, XP_047286267.1:p.Val124Ala, XP_047286268.1:p.Val124Ala, XP_047286274.1:p.Val328Ala, NP_001317512.1:p.Val124Ala, XP_047286275.1:p.Val315Ala, XP_047286272.1:p.Val124Ala, XP_047286273.1:p.Val124Ala

                        12.

                        rs1483276514 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,T [Show Flanks]
                          Chromosome:
                          13:75841648 (GRCh38)
                          13:76415784 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:75841647:A:C,NC_000013.11:75841647:A:T
                          Gene:
                          LMO7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000013.11:g.75841648A>C, NC_000013.11:g.75841648A>T, NC_000013.10:g.76415784A>C, NC_000013.10:g.76415784A>T, NM_005358.5:c.2850A>C, NM_005358.5:c.2850A>T, XM_011535095.3:c.2076A>C, XM_011535095.3:c.2076A>T, XM_011535095.2:c.2877A>C, XM_011535095.2:c.2877A>T, XM_011535095.1:c.2076A>C, XM_011535095.1:c.2076A>T, NM_001306080.2:c.3696A>C, NM_001306080.2:c.3696A>T, NM_001306080.1:c.3696A>C, NM_001306080.1:c.3696A>T, NM_015842.2:c.2997A>C, NM_015842.2:c.2997A>T, NM_001366632.2:c.2997A>C, NM_001366632.2:c.2997A>T, NM_001366632.1:c.2997A>C, NM_001366632.1:c.2997A>T, NM_001366633.2:c.3570A>C, NM_001366633.2:c.3570A>T, NM_001366633.1:c.3570A>C, NM_001366633.1:c.3570A>T, NM_001366636.2:c.2715A>C, NM_001366636.2:c.2715A>T, NM_001366636.1:c.2715A>C, NM_001366636.1:c.2715A>T, NM_001366634.2:c.2715A>C, NM_001366634.2:c.2715A>T, NM_001366634.1:c.2715A>C, NM_001366634.1:c.2715A>T, XM_024449359.2:c.2796A>C, XM_024449359.2:c.2796A>T, XM_024449359.1:c.2796A>C, XM_024449359.1:c.2796A>T, XM_024449363.2:c.2658A>C, XM_024449363.2:c.2658A>T, XM_024449363.1:c.2046A>C, XM_024449363.1:c.2046A>T, XM_047430323.1:c.3324A>C, XM_047430323.1:c.3324A>T, XM_047430327.1:c.3324A>C, XM_047430327.1:c.3324A>T, XM_047430314.1:c.3936A>C, XM_047430314.1:c.3936A>T, XM_047430326.1:c.3324A>C, XM_047430326.1:c.3324A>T, XM_047430315.1:c.3897A>C, XM_047430315.1:c.3897A>T, XM_047430307.1:c.3282A>C, XM_047430307.1:c.3282A>T, XM_047430329.1:c.3120A>C, XM_047430329.1:c.3120A>T, XM_047430308.1:c.3267A>C, XM_047430308.1:c.3267A>T, XM_047430309.1:c.3243A>C, XM_047430309.1:c.3243A>T, XM_047430328.1:c.3324A>C, XM_047430328.1:c.3324A>T, XM_047430310.1:c.3225A>C, XM_047430310.1:c.3225A>T, XM_047430311.1:c.3201A>C, XM_047430311.1:c.3201A>T, XM_047430312.1:c.3144A>C, XM_047430312.1:c.3144A>T, XM_047430318.1:c.3732A>C, XM_047430318.1:c.3732A>T, NM_001330583.1:c.2997A>C, NM_001330583.1:c.2997A>T, XM_047430319.1:c.3693A>C, XM_047430319.1:c.3693A>T, XM_047430316.1:c.3039A>C, XM_047430316.1:c.3039A>T, XM_047430317.1:c.2997A>C, XM_047430317.1:c.2997A>T, XM_047430320.1:c.2838A>C, XM_047430320.1:c.2838A>T, XM_047430325.1:c.3450A>C, XM_047430325.1:c.3450A>T, XM_047430321.1:c.2757A>C, XM_047430321.1:c.2757A>T, XM_047430322.1:c.2715A>C, XM_047430322.1:c.2715A>T, XM_047430324.1:c.2715A>C, XM_047430324.1:c.2715A>T, XM_047430352.1:c.2118A>C, XM_047430352.1:c.2118A>T, XM_047430353.1:c.1989A>C, XM_047430353.1:c.1989A>T, XM_047430339.1:c.2730A>C, XM_047430339.1:c.2730A>T, XM_047430330.1:c.2088A>C, XM_047430330.1:c.2088A>T, XM_047430341.1:c.2691A>C, XM_047430341.1:c.2691A>T, XM_047430342.1:c.2688A>C, XM_047430342.1:c.2688A>T, XM_047430344.1:c.2661A>C, XM_047430344.1:c.2661A>T, XM_047430345.1:c.2649A>C, XM_047430345.1:c.2649A>T, XM_047430331.1:c.2037A>C, XM_047430331.1:c.2037A>T, XM_047430346.1:c.2649A>C, XM_047430346.1:c.2649A>T, XM_047430334.1:c.2019A>C, XM_047430334.1:c.2019A>T, XM_047430336.1:c.2007A>C, XM_047430336.1:c.2007A>T, XM_047430347.1:c.2610A>C, XM_047430347.1:c.2610A>T, XM_047430348.1:c.2607A>C, XM_047430348.1:c.2607A>T, XM_047430333.1:c.2076A>C, XM_047430333.1:c.2076A>T, XM_047430350.1:c.2568A>C, XM_047430350.1:c.2568A>T, XM_047430349.1:c.2577A>C, XM_047430349.1:c.2577A>T, XM_047430338.1:c.1938A>C, XM_047430338.1:c.1938A>T, XM_047430335.1:c.2046A>C, XM_047430335.1:c.2046A>T, XM_047430351.1:c.2550A>C, XM_047430351.1:c.2550A>T, XM_047430337.1:c.1995A>C, XM_047430337.1:c.1995A>T, XM_047430340.1:c.1965A>C, XM_047430340.1:c.1965A>T, XM_047430343.1:c.1908A>C, XM_047430343.1:c.1908A>T, NM_015843.1:c.1194A>C, NM_015843.1:c.1194A>T

                          13.

                          rs1482653380 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            13:75841690 (GRCh38)
                            13:76415826 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:75841689:C:G
                            Gene:
                            LMO7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0./0 (GnomAD)
                            G=0.000004/1 (TOPMED)
                            G=0.000016/4 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.75841690C>G, NC_000013.10:g.76415826C>G, NM_005358.5:c.2892C>G, XM_011535095.3:c.2118C>G, XM_011535095.2:c.2919C>G, XM_011535095.1:c.2118C>G, NM_001306080.2:c.3738C>G, NM_001306080.1:c.3738C>G, NM_015842.2:c.3039C>G, NM_001366632.2:c.3039C>G, NM_001366632.1:c.3039C>G, NM_001366633.2:c.3612C>G, NM_001366633.1:c.3612C>G, NM_001366636.2:c.2757C>G, NM_001366636.1:c.2757C>G, NM_001366634.2:c.2757C>G, NM_001366634.1:c.2757C>G, XM_024449359.2:c.2838C>G, XM_024449359.1:c.2838C>G, XM_024449363.2:c.2700C>G, XM_024449363.1:c.2088C>G, XM_047430323.1:c.3366C>G, XM_047430327.1:c.3366C>G, XM_047430314.1:c.3978C>G, XM_047430326.1:c.3366C>G, XM_047430315.1:c.3939C>G, XM_047430307.1:c.3324C>G, XM_047430329.1:c.3162C>G, XM_047430308.1:c.3309C>G, XM_047430309.1:c.3285C>G, XM_047430328.1:c.3366C>G, XM_047430310.1:c.3267C>G, XM_047430311.1:c.3243C>G, XM_047430312.1:c.3186C>G, XM_047430318.1:c.3774C>G, NM_001330583.1:c.3039C>G, XM_047430319.1:c.3735C>G, XM_047430316.1:c.3081C>G, XM_047430317.1:c.3039C>G, XM_047430320.1:c.2880C>G, XM_047430325.1:c.3492C>G, XM_047430321.1:c.2799C>G, XM_047430322.1:c.2757C>G, XM_047430324.1:c.2757C>G, XM_047430352.1:c.2160C>G, XM_047430353.1:c.2031C>G, XM_047430339.1:c.2772C>G, XM_047430330.1:c.2130C>G, XM_047430341.1:c.2733C>G, XM_047430342.1:c.2730C>G, XM_047430344.1:c.2703C>G, XM_047430345.1:c.2691C>G, XM_047430331.1:c.2079C>G, XM_047430346.1:c.2691C>G, XM_047430334.1:c.2061C>G, XM_047430336.1:c.2049C>G, XM_047430347.1:c.2652C>G, XM_047430348.1:c.2649C>G, XM_047430333.1:c.2118C>G, XM_047430350.1:c.2610C>G, XM_047430349.1:c.2619C>G, XM_047430338.1:c.1980C>G, XM_047430335.1:c.2088C>G, XM_047430351.1:c.2592C>G, XM_047430337.1:c.2037C>G, XM_047430340.1:c.2007C>G, XM_047430343.1:c.1950C>G, NM_015843.1:c.1236C>G

                            14.

                            rs1482131326 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              13:75804348 (GRCh38)
                              13:76378484 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:75804347:G:T
                              Gene:
                              LMO7 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000013.11:g.75804348G>T, NC_000013.10:g.76378484G>T, NM_005358.5:c.877G>T, XM_011535095.3:c.22G>T, XM_011535095.2:c.823G>T, XM_011535095.1:c.22G>T, NM_001306080.2:c.721G>T, NM_001306080.1:c.721G>T, NM_015842.2:c.22G>T, NM_001366632.2:c.22G>T, NM_001366632.1:c.22G>T, NM_001366633.2:c.595G>T, NM_001366633.1:c.595G>T, NM_001366636.2:c.22G>T, NM_001366636.1:c.22G>T, NM_001366634.2:c.22G>T, NM_001366634.1:c.22G>T, XM_024449359.2:c.22G>T, XM_024449359.1:c.22G>T, XM_024449363.2:c.634G>T, XM_024449363.1:c.22G>T, XM_047430323.1:c.22G>T, XM_047430327.1:c.22G>T, XM_047430314.1:c.634G>T, XM_047430326.1:c.22G>T, XM_047430315.1:c.595G>T, XM_047430307.1:c.22G>T, XM_047430329.1:c.22G>T, XM_047430308.1:c.22G>T, XM_047430309.1:c.22G>T, XM_047430328.1:c.22G>T, XM_047430310.1:c.22G>T, XM_047430311.1:c.22G>T, XM_047430312.1:c.22G>T, XM_047430318.1:c.634G>T, NM_001330583.1:c.22G>T, XM_047430319.1:c.595G>T, XM_047430316.1:c.22G>T, XM_047430317.1:c.22G>T, XM_047430320.1:c.22G>T, XM_047430325.1:c.634G>T, XM_047430321.1:c.22G>T, XM_047430322.1:c.22G>T, XM_047430324.1:c.22G>T, XM_047430352.1:c.22G>T, XM_047430353.1:c.22G>T, XM_047430339.1:c.634G>T, XM_047430330.1:c.22G>T, XM_047430341.1:c.595G>T, XM_047430342.1:c.634G>T, XM_047430344.1:c.595G>T, XM_047430345.1:c.595G>T, XM_047430331.1:c.22G>T, XM_047430346.1:c.634G>T, XM_047430334.1:c.22G>T, XM_047430336.1:c.22G>T, XM_047430347.1:c.595G>T, XM_047430348.1:c.634G>T, XM_047430333.1:c.22G>T, XM_047430350.1:c.595G>T, XM_047430349.1:c.634G>T, XM_047430338.1:c.22G>T, XM_047430335.1:c.22G>T, XM_047430351.1:c.634G>T, XM_047430337.1:c.22G>T, XM_047430340.1:c.22G>T, XM_047430343.1:c.22G>T, NP_005349.3:p.Asp293Tyr, XP_011533397.3:p.Asp8Tyr, NP_001293009.1:p.Asp241Tyr, NP_056667.2:p.Asp8Tyr, NP_001353561.1:p.Asp8Tyr, NP_001353562.1:p.Asp199Tyr, NP_001353565.1:p.Asp8Tyr, NP_001353563.1:p.Asp8Tyr, XP_024305127.1:p.Asp8Tyr, XP_024305131.2:p.Asp212Tyr, XP_047286279.1:p.Asp8Tyr, XP_047286283.1:p.Asp8Tyr, XP_047286270.1:p.Asp212Tyr, XP_047286282.1:p.Asp8Tyr, XP_047286271.1:p.Asp199Tyr, XP_047286263.1:p.Asp8Tyr, XP_047286285.1:p.Asp8Tyr, XP_047286264.1:p.Asp8Tyr, XP_047286265.1:p.Asp8Tyr, XP_047286284.1:p.Asp8Tyr, XP_047286266.1:p.Asp8Tyr, XP_047286267.1:p.Asp8Tyr, XP_047286268.1:p.Asp8Tyr, XP_047286274.1:p.Asp212Tyr, NP_001317512.1:p.Asp8Tyr, XP_047286275.1:p.Asp199Tyr, XP_047286272.1:p.Asp8Tyr, XP_047286273.1:p.Asp8Tyr, XP_047286276.1:p.Asp8Tyr, XP_047286281.1:p.Asp212Tyr, XP_047286277.1:p.Asp8Tyr, XP_047286278.1:p.Asp8Tyr, XP_047286280.1:p.Asp8Tyr, XP_047286308.1:p.Asp8Tyr, XP_047286309.1:p.Asp8Tyr, XP_047286295.1:p.Asp212Tyr, XP_047286286.1:p.Asp8Tyr, XP_047286297.1:p.Asp199Tyr, XP_047286298.1:p.Asp212Tyr, XP_047286300.1:p.Asp199Tyr, XP_047286301.1:p.Asp199Tyr, XP_047286287.1:p.Asp8Tyr, XP_047286302.1:p.Asp212Tyr, XP_047286290.1:p.Asp8Tyr, XP_047286292.1:p.Asp8Tyr, XP_047286303.1:p.Asp199Tyr, XP_047286304.1:p.Asp212Tyr, XP_047286289.1:p.Asp8Tyr, XP_047286306.1:p.Asp199Tyr, XP_047286305.1:p.Asp212Tyr, XP_047286294.1:p.Asp8Tyr, XP_047286291.1:p.Asp8Tyr, XP_047286307.1:p.Asp212Tyr, XP_047286293.1:p.Asp8Tyr, XP_047286296.1:p.Asp8Tyr, XP_047286299.1:p.Asp8Tyr

                              15.

                              rs1479410739 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                13:75804490 (GRCh38)
                                13:76378626 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:75804489:G:T
                                Gene:
                                LMO7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000013.11:g.75804490G>T, NC_000013.10:g.76378626G>T, NM_005358.5:c.1019G>T, XM_011535095.3:c.164G>T, XM_011535095.2:c.965G>T, XM_011535095.1:c.164G>T, NM_001306080.2:c.863G>T, NM_001306080.1:c.863G>T, NM_015842.2:c.164G>T, NM_001366632.2:c.164G>T, NM_001366632.1:c.164G>T, NM_001366633.2:c.737G>T, NM_001366633.1:c.737G>T, NM_001366636.2:c.164G>T, NM_001366636.1:c.164G>T, NM_001366634.2:c.164G>T, NM_001366634.1:c.164G>T, XM_024449359.2:c.164G>T, XM_024449359.1:c.164G>T, XM_024449363.2:c.776G>T, XM_024449363.1:c.164G>T, XM_047430323.1:c.164G>T, XM_047430327.1:c.164G>T, XM_047430314.1:c.776G>T, XM_047430326.1:c.164G>T, XM_047430315.1:c.737G>T, XM_047430307.1:c.164G>T, XM_047430329.1:c.164G>T, XM_047430308.1:c.164G>T, XM_047430309.1:c.164G>T, XM_047430328.1:c.164G>T, XM_047430310.1:c.164G>T, XM_047430311.1:c.164G>T, XM_047430312.1:c.164G>T, XM_047430318.1:c.776G>T, NM_001330583.1:c.164G>T, XM_047430319.1:c.737G>T, XM_047430316.1:c.164G>T, XM_047430317.1:c.164G>T, XM_047430320.1:c.164G>T, XM_047430325.1:c.776G>T, XM_047430321.1:c.164G>T, XM_047430322.1:c.164G>T, XM_047430324.1:c.164G>T, XM_047430352.1:c.164G>T, XM_047430353.1:c.164G>T, XM_047430339.1:c.776G>T, XM_047430330.1:c.164G>T, XM_047430341.1:c.737G>T, XM_047430342.1:c.776G>T, XM_047430344.1:c.737G>T, XM_047430345.1:c.737G>T, XM_047430331.1:c.164G>T, XM_047430346.1:c.776G>T, XM_047430334.1:c.164G>T, XM_047430336.1:c.164G>T, XM_047430347.1:c.737G>T, XM_047430348.1:c.776G>T, XM_047430333.1:c.164G>T, XM_047430350.1:c.737G>T, XM_047430349.1:c.776G>T, XM_047430338.1:c.164G>T, XM_047430335.1:c.164G>T, XM_047430351.1:c.776G>T, XM_047430337.1:c.164G>T, XM_047430340.1:c.164G>T, XM_047430343.1:c.164G>T, NP_005349.3:p.Arg340Ile, XP_011533397.3:p.Arg55Ile, NP_001293009.1:p.Arg288Ile, NP_056667.2:p.Arg55Ile, NP_001353561.1:p.Arg55Ile, NP_001353562.1:p.Arg246Ile, NP_001353565.1:p.Arg55Ile, NP_001353563.1:p.Arg55Ile, XP_024305127.1:p.Arg55Ile, XP_024305131.2:p.Arg259Ile, XP_047286279.1:p.Arg55Ile, XP_047286283.1:p.Arg55Ile, XP_047286270.1:p.Arg259Ile, XP_047286282.1:p.Arg55Ile, XP_047286271.1:p.Arg246Ile, XP_047286263.1:p.Arg55Ile, XP_047286285.1:p.Arg55Ile, XP_047286264.1:p.Arg55Ile, XP_047286265.1:p.Arg55Ile, XP_047286284.1:p.Arg55Ile, XP_047286266.1:p.Arg55Ile, XP_047286267.1:p.Arg55Ile, XP_047286268.1:p.Arg55Ile, XP_047286274.1:p.Arg259Ile, NP_001317512.1:p.Arg55Ile, XP_047286275.1:p.Arg246Ile, XP_047286272.1:p.Arg55Ile, XP_047286273.1:p.Arg55Ile, XP_047286276.1:p.Arg55Ile, XP_047286281.1:p.Arg259Ile, XP_047286277.1:p.Arg55Ile, XP_047286278.1:p.Arg55Ile, XP_047286280.1:p.Arg55Ile, XP_047286308.1:p.Arg55Ile, XP_047286309.1:p.Arg55Ile, XP_047286295.1:p.Arg259Ile, XP_047286286.1:p.Arg55Ile, XP_047286297.1:p.Arg246Ile, XP_047286298.1:p.Arg259Ile, XP_047286300.1:p.Arg246Ile, XP_047286301.1:p.Arg246Ile, XP_047286287.1:p.Arg55Ile, XP_047286302.1:p.Arg259Ile, XP_047286290.1:p.Arg55Ile, XP_047286292.1:p.Arg55Ile, XP_047286303.1:p.Arg246Ile, XP_047286304.1:p.Arg259Ile, XP_047286289.1:p.Arg55Ile, XP_047286306.1:p.Arg246Ile, XP_047286305.1:p.Arg259Ile, XP_047286294.1:p.Arg55Ile, XP_047286291.1:p.Arg55Ile, XP_047286307.1:p.Arg259Ile, XP_047286293.1:p.Arg55Ile, XP_047286296.1:p.Arg55Ile, XP_047286299.1:p.Arg55Ile

                                16.

                                rs1478157741 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  13:75817258 (GRCh38)
                                  13:76391394 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:75817257:C:G
                                  Gene:
                                  LMO7 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000013.11:g.75817258C>G, NC_000013.10:g.76391394C>G, NM_005358.5:c.1198C>G, XM_011535095.3:c.343C>G, XM_011535095.2:c.1144C>G, XM_011535095.1:c.343C>G, NM_001306080.2:c.2044C>G, NM_001306080.1:c.2044C>G, NM_015842.2:c.1345C>G, NM_001366632.2:c.1345C>G, NM_001366632.1:c.1345C>G, NM_001366633.2:c.1918C>G, NM_001366633.1:c.1918C>G, NM_001366636.2:c.1063C>G, NM_001366636.1:c.1063C>G, NM_001366634.2:c.1063C>G, NM_001366634.1:c.1063C>G, XM_024449359.2:c.1063C>G, XM_024449359.1:c.1063C>G, XM_024449363.2:c.925C>G, XM_024449363.1:c.313C>G, XM_047430323.1:c.1549C>G, XM_047430327.1:c.1549C>G, XM_047430314.1:c.2161C>G, XM_047430326.1:c.1549C>G, XM_047430315.1:c.2122C>G, XM_047430307.1:c.1549C>G, XM_047430329.1:c.1345C>G, XM_047430308.1:c.1549C>G, XM_047430309.1:c.1549C>G, XM_047430328.1:c.1549C>G, XM_047430310.1:c.1549C>G, XM_047430311.1:c.1549C>G, XM_047430312.1:c.1549C>G, XM_047430318.1:c.1957C>G, NM_001330583.1:c.1345C>G, XM_047430319.1:c.1918C>G, XM_047430316.1:c.1345C>G, XM_047430317.1:c.1345C>G, XM_047430320.1:c.1063C>G, XM_047430325.1:c.1675C>G, XM_047430321.1:c.1063C>G, XM_047430322.1:c.1063C>G, XM_047430324.1:c.1063C>G, XM_047430352.1:c.343C>G, XM_047430353.1:c.313C>G, XM_047430339.1:c.955C>G, XM_047430330.1:c.313C>G, XM_047430341.1:c.916C>G, XM_047430342.1:c.955C>G, XM_047430344.1:c.886C>G, XM_047430345.1:c.916C>G, XM_047430331.1:c.343C>G, XM_047430346.1:c.955C>G, XM_047430334.1:c.343C>G, XM_047430336.1:c.313C>G, XM_047430347.1:c.916C>G, XM_047430348.1:c.955C>G, XM_047430333.1:c.343C>G, XM_047430350.1:c.916C>G, XM_047430349.1:c.925C>G, XM_047430338.1:c.343C>G, XM_047430335.1:c.313C>G, XM_047430351.1:c.955C>G, XM_047430337.1:c.343C>G, XM_047430340.1:c.313C>G, XM_047430343.1:c.313C>G, NP_005349.3:p.Gln400Glu, XP_011533397.3:p.Gln115Glu, NP_001293009.1:p.Gln682Glu, NP_056667.2:p.Gln449Glu, NP_001353561.1:p.Gln449Glu, NP_001353562.1:p.Gln640Glu, NP_001353565.1:p.Gln355Glu, NP_001353563.1:p.Gln355Glu, XP_024305127.1:p.Gln355Glu, XP_024305131.2:p.Gln309Glu, XP_047286279.1:p.Gln517Glu, XP_047286283.1:p.Gln517Glu, XP_047286270.1:p.Gln721Glu, XP_047286282.1:p.Gln517Glu, XP_047286271.1:p.Gln708Glu, XP_047286263.1:p.Gln517Glu, XP_047286285.1:p.Gln449Glu, XP_047286264.1:p.Gln517Glu, XP_047286265.1:p.Gln517Glu, XP_047286284.1:p.Gln517Glu, XP_047286266.1:p.Gln517Glu, XP_047286267.1:p.Gln517Glu, XP_047286268.1:p.Gln517Glu, XP_047286274.1:p.Gln653Glu, NP_001317512.1:p.Gln449Glu, XP_047286275.1:p.Gln640Glu, XP_047286272.1:p.Gln449Glu, XP_047286273.1:p.Gln449Glu, XP_047286276.1:p.Gln355Glu, XP_047286281.1:p.Gln559Glu, XP_047286277.1:p.Gln355Glu, XP_047286278.1:p.Gln355Glu, XP_047286280.1:p.Gln355Glu, XP_047286308.1:p.Gln115Glu, XP_047286309.1:p.Gln105Glu, XP_047286295.1:p.Gln319Glu, XP_047286286.1:p.Gln105Glu, XP_047286297.1:p.Gln306Glu, XP_047286298.1:p.Gln319Glu, XP_047286300.1:p.Gln296Glu, XP_047286301.1:p.Gln306Glu, XP_047286287.1:p.Gln115Glu, XP_047286302.1:p.Gln319Glu, XP_047286290.1:p.Gln115Glu, XP_047286292.1:p.Gln105Glu, XP_047286303.1:p.Gln306Glu, XP_047286304.1:p.Gln319Glu, XP_047286289.1:p.Gln115Glu, XP_047286306.1:p.Gln306Glu, XP_047286305.1:p.Gln309Glu, XP_047286294.1:p.Gln115Glu, XP_047286291.1:p.Gln105Glu, XP_047286307.1:p.Gln319Glu, XP_047286293.1:p.Gln115Glu, XP_047286296.1:p.Gln105Glu, XP_047286299.1:p.Gln105Glu

                                  17.

                                  rs1477849070 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    13:75807850 (GRCh38)
                                    13:76381986 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:75807849:C:G
                                    Gene:
                                    LMO7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000224/1 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000013.11:g.75807850C>G, NC_000013.10:g.76381986C>G, NM_001306080.2:c.1567C>G, NM_001306080.1:c.1567C>G, NM_015842.2:c.868C>G, NM_001366632.2:c.868C>G, NM_001366632.1:c.868C>G, NM_001366633.2:c.1441C>G, NM_001366633.1:c.1441C>G, NM_001366636.2:c.586C>G, NM_001366636.1:c.586C>G, NM_001366634.2:c.586C>G, NM_001366634.1:c.586C>G, XM_024449359.2:c.586C>G, XM_024449359.1:c.586C>G, XM_047430323.1:c.1072C>G, XM_047430327.1:c.1072C>G, XM_047430314.1:c.1684C>G, XM_047430326.1:c.1072C>G, XM_047430315.1:c.1645C>G, XM_047430307.1:c.1072C>G, XM_047430329.1:c.868C>G, XM_047430308.1:c.1072C>G, XM_047430309.1:c.1072C>G, XM_047430328.1:c.1072C>G, XM_047430310.1:c.1072C>G, XM_047430311.1:c.1072C>G, XM_047430312.1:c.1072C>G, XM_047430318.1:c.1480C>G, NM_001330583.1:c.868C>G, XM_047430319.1:c.1441C>G, XM_047430316.1:c.868C>G, XM_047430317.1:c.868C>G, XM_047430320.1:c.586C>G, XM_047430325.1:c.1198C>G, XM_047430321.1:c.586C>G, XM_047430322.1:c.586C>G, XM_047430324.1:c.586C>G, NP_001293009.1:p.Pro523Ala, NP_056667.2:p.Pro290Ala, NP_001353561.1:p.Pro290Ala, NP_001353562.1:p.Pro481Ala, NP_001353565.1:p.Pro196Ala, NP_001353563.1:p.Pro196Ala, XP_024305127.1:p.Pro196Ala, XP_047286279.1:p.Pro358Ala, XP_047286283.1:p.Pro358Ala, XP_047286270.1:p.Pro562Ala, XP_047286282.1:p.Pro358Ala, XP_047286271.1:p.Pro549Ala, XP_047286263.1:p.Pro358Ala, XP_047286285.1:p.Pro290Ala, XP_047286264.1:p.Pro358Ala, XP_047286265.1:p.Pro358Ala, XP_047286284.1:p.Pro358Ala, XP_047286266.1:p.Pro358Ala, XP_047286267.1:p.Pro358Ala, XP_047286268.1:p.Pro358Ala, XP_047286274.1:p.Pro494Ala, NP_001317512.1:p.Pro290Ala, XP_047286275.1:p.Pro481Ala, XP_047286272.1:p.Pro290Ala, XP_047286273.1:p.Pro290Ala, XP_047286276.1:p.Pro196Ala, XP_047286281.1:p.Pro400Ala, XP_047286277.1:p.Pro196Ala, XP_047286278.1:p.Pro196Ala, XP_047286280.1:p.Pro196Ala

                                    18.

                                    rs1477672371 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:75853257 (GRCh38)
                                      13:76427393 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:75853256:C:T
                                      Gene:
                                      LMO7 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000013.11:g.75853257C>T, NC_000013.10:g.76427393C>T, NM_005358.5:c.3684C>T, XM_011535095.3:c.2910C>T, XM_011535095.2:c.3711C>T, XM_011535095.1:c.2910C>T, NM_001306080.2:c.4530C>T, NM_001306080.1:c.4530C>T, NM_015842.2:c.3831C>T, NM_001366632.2:c.3831C>T, NM_001366632.1:c.3831C>T, NM_001366633.2:c.4404C>T, NM_001366633.1:c.4404C>T, NM_001366636.2:c.3549C>T, NM_001366636.1:c.3549C>T, NM_001366634.2:c.3549C>T, NM_001366634.1:c.3549C>T, XM_024449359.2:c.3630C>T, XM_024449359.1:c.3630C>T, XM_024449363.2:c.3492C>T, XM_024449363.1:c.2880C>T, XM_047430323.1:c.4158C>T, XM_047430327.1:c.4158C>T, XM_047430314.1:c.4770C>T, XM_047430326.1:c.4158C>T, XM_047430315.1:c.4731C>T, XM_047430307.1:c.4116C>T, XM_047430329.1:c.3954C>T, XM_047430308.1:c.4101C>T, XM_047430309.1:c.4077C>T, XM_047430328.1:c.4158C>T, XM_047430310.1:c.4059C>T, XM_047430311.1:c.4035C>T, XM_047430312.1:c.3978C>T, XM_047430318.1:c.4566C>T, NM_001330583.1:c.3831C>T, XM_047430319.1:c.4527C>T, XM_047430316.1:c.3873C>T, XM_047430317.1:c.3831C>T, XM_047430320.1:c.3672C>T, XM_047430325.1:c.4284C>T, XM_047430321.1:c.3591C>T, XM_047430322.1:c.3549C>T, XM_047430324.1:c.3549C>T, XM_047430352.1:c.2952C>T, XM_047430353.1:c.2823C>T, XM_047430339.1:c.3564C>T, XM_047430330.1:c.2922C>T, XM_047430341.1:c.3525C>T, XM_047430342.1:c.3522C>T, XM_047430344.1:c.3495C>T, XM_047430345.1:c.3483C>T, XM_047430331.1:c.2871C>T, XM_047430346.1:c.3483C>T, XM_047430334.1:c.2853C>T, XM_047430336.1:c.2841C>T, XM_047430347.1:c.3444C>T, XM_047430348.1:c.3441C>T, XM_047430333.1:c.2910C>T, XM_047430350.1:c.3402C>T, XM_047430349.1:c.3411C>T, XM_047430338.1:c.2772C>T, XM_047430335.1:c.2880C>T, XM_047430351.1:c.3384C>T, XM_047430337.1:c.2829C>T, XM_047430340.1:c.2799C>T, XM_047430343.1:c.2742C>T, NM_015843.1:c.2028C>T

                                      19.

                                      rs1477334590 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        13:75804507 (GRCh38)
                                        13:76378643 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:75804506:C:A
                                        Gene:
                                        LMO7 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000013.11:g.75804507C>A, NC_000013.10:g.76378643C>A, NM_005358.5:c.1036C>A, XM_011535095.3:c.181C>A, XM_011535095.2:c.982C>A, XM_011535095.1:c.181C>A, NM_001306080.2:c.880C>A, NM_001306080.1:c.880C>A, NM_015842.2:c.181C>A, NM_001366632.2:c.181C>A, NM_001366632.1:c.181C>A, NM_001366633.2:c.754C>A, NM_001366633.1:c.754C>A, NM_001366636.2:c.181C>A, NM_001366636.1:c.181C>A, NM_001366634.2:c.181C>A, NM_001366634.1:c.181C>A, XM_024449359.2:c.181C>A, XM_024449359.1:c.181C>A, XM_024449363.2:c.793C>A, XM_024449363.1:c.181C>A, XM_047430323.1:c.181C>A, XM_047430327.1:c.181C>A, XM_047430314.1:c.793C>A, XM_047430326.1:c.181C>A, XM_047430315.1:c.754C>A, XM_047430307.1:c.181C>A, XM_047430329.1:c.181C>A, XM_047430308.1:c.181C>A, XM_047430309.1:c.181C>A, XM_047430328.1:c.181C>A, XM_047430310.1:c.181C>A, XM_047430311.1:c.181C>A, XM_047430312.1:c.181C>A, XM_047430318.1:c.793C>A, NM_001330583.1:c.181C>A, XM_047430319.1:c.754C>A, XM_047430316.1:c.181C>A, XM_047430317.1:c.181C>A, XM_047430320.1:c.181C>A, XM_047430325.1:c.793C>A, XM_047430321.1:c.181C>A, XM_047430322.1:c.181C>A, XM_047430324.1:c.181C>A, XM_047430352.1:c.181C>A, XM_047430353.1:c.181C>A, XM_047430339.1:c.793C>A, XM_047430330.1:c.181C>A, XM_047430341.1:c.754C>A, XM_047430342.1:c.793C>A, XM_047430344.1:c.754C>A, XM_047430345.1:c.754C>A, XM_047430331.1:c.181C>A, XM_047430346.1:c.793C>A, XM_047430334.1:c.181C>A, XM_047430336.1:c.181C>A, XM_047430347.1:c.754C>A, XM_047430348.1:c.793C>A, XM_047430333.1:c.181C>A, XM_047430350.1:c.754C>A, XM_047430349.1:c.793C>A, XM_047430338.1:c.181C>A, XM_047430335.1:c.181C>A, XM_047430351.1:c.793C>A, XM_047430337.1:c.181C>A, XM_047430340.1:c.181C>A, XM_047430343.1:c.181C>A, NP_005349.3:p.Pro346Thr, XP_011533397.3:p.Pro61Thr, NP_001293009.1:p.Pro294Thr, NP_056667.2:p.Pro61Thr, NP_001353561.1:p.Pro61Thr, NP_001353562.1:p.Pro252Thr, NP_001353565.1:p.Pro61Thr, NP_001353563.1:p.Pro61Thr, XP_024305127.1:p.Pro61Thr, XP_024305131.2:p.Pro265Thr, XP_047286279.1:p.Pro61Thr, XP_047286283.1:p.Pro61Thr, XP_047286270.1:p.Pro265Thr, XP_047286282.1:p.Pro61Thr, XP_047286271.1:p.Pro252Thr, XP_047286263.1:p.Pro61Thr, XP_047286285.1:p.Pro61Thr, XP_047286264.1:p.Pro61Thr, XP_047286265.1:p.Pro61Thr, XP_047286284.1:p.Pro61Thr, XP_047286266.1:p.Pro61Thr, XP_047286267.1:p.Pro61Thr, XP_047286268.1:p.Pro61Thr, XP_047286274.1:p.Pro265Thr, NP_001317512.1:p.Pro61Thr, XP_047286275.1:p.Pro252Thr, XP_047286272.1:p.Pro61Thr, XP_047286273.1:p.Pro61Thr, XP_047286276.1:p.Pro61Thr, XP_047286281.1:p.Pro265Thr, XP_047286277.1:p.Pro61Thr, XP_047286278.1:p.Pro61Thr, XP_047286280.1:p.Pro61Thr, XP_047286308.1:p.Pro61Thr, XP_047286309.1:p.Pro61Thr, XP_047286295.1:p.Pro265Thr, XP_047286286.1:p.Pro61Thr, XP_047286297.1:p.Pro252Thr, XP_047286298.1:p.Pro265Thr, XP_047286300.1:p.Pro252Thr, XP_047286301.1:p.Pro252Thr, XP_047286287.1:p.Pro61Thr, XP_047286302.1:p.Pro265Thr, XP_047286290.1:p.Pro61Thr, XP_047286292.1:p.Pro61Thr, XP_047286303.1:p.Pro252Thr, XP_047286304.1:p.Pro265Thr, XP_047286289.1:p.Pro61Thr, XP_047286306.1:p.Pro252Thr, XP_047286305.1:p.Pro265Thr, XP_047286294.1:p.Pro61Thr, XP_047286291.1:p.Pro61Thr, XP_047286307.1:p.Pro265Thr, XP_047286293.1:p.Pro61Thr, XP_047286296.1:p.Pro61Thr, XP_047286299.1:p.Pro61Thr

                                        20.

                                        rs1476823701 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          13:75805744 (GRCh38)
                                          13:76379880 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:75805743:G:T
                                          Gene:
                                          LMO7 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,stop_gained,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000013.11:g.75805744G>T, NC_000013.10:g.76379880G>T, NM_001306080.2:c.1180G>T, NM_001306080.1:c.1180G>T, NM_015842.2:c.481G>T, NM_001366632.2:c.481G>T, NM_001366632.1:c.481G>T, NM_001366633.2:c.1054G>T, NM_001366633.1:c.1054G>T, XM_047430323.1:c.481G>T, XM_047430327.1:c.481G>T, XM_047430314.1:c.1093G>T, XM_047430326.1:c.481G>T, XM_047430315.1:c.1054G>T, XM_047430307.1:c.481G>T, XM_047430329.1:c.481G>T, XM_047430308.1:c.481G>T, XM_047430309.1:c.481G>T, XM_047430328.1:c.481G>T, XM_047430310.1:c.481G>T, XM_047430311.1:c.481G>T, XM_047430312.1:c.481G>T, XM_047430318.1:c.1093G>T, NM_001330583.1:c.481G>T, XM_047430319.1:c.1054G>T, XM_047430316.1:c.481G>T, XM_047430317.1:c.481G>T, NP_001293009.1:p.Glu394Ter, NP_056667.2:p.Glu161Ter, NP_001353561.1:p.Glu161Ter, NP_001353562.1:p.Glu352Ter, XP_047286279.1:p.Glu161Ter, XP_047286283.1:p.Glu161Ter, XP_047286270.1:p.Glu365Ter, XP_047286282.1:p.Glu161Ter, XP_047286271.1:p.Glu352Ter, XP_047286263.1:p.Glu161Ter, XP_047286285.1:p.Glu161Ter, XP_047286264.1:p.Glu161Ter, XP_047286265.1:p.Glu161Ter, XP_047286284.1:p.Glu161Ter, XP_047286266.1:p.Glu161Ter, XP_047286267.1:p.Glu161Ter, XP_047286268.1:p.Glu161Ter, XP_047286274.1:p.Glu365Ter, NP_001317512.1:p.Glu161Ter, XP_047286275.1:p.Glu352Ter, XP_047286272.1:p.Glu161Ter, XP_047286273.1:p.Glu161Ter

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