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Items: 1 to 20 of 412

1.

rs1484637706 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    1:15767551 (GRCh38)
    1:16094046 (GRCh37)
    Canonical SPDI:
    NC_000001.11:15767550:G:A,NC_000001.11:15767550:G:C
    Gene:
    FBLIM1 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.00118/29 (ALFA)
    A=0.00007/6 (GnomAD)
    C=0.00387/65 (TOMMO)
    C=0.10339/293 (KOREAN)
    HGVS:
    NC_000001.11:g.15767551G>A, NC_000001.11:g.15767551G>C, NC_000001.10:g.16094046G>A, NC_000001.10:g.16094046G>C, NM_017556.4:c.426G>A, NM_017556.4:c.426G>C, NM_017556.3:c.426G>A, NM_017556.3:c.426G>C, NM_017556.2:c.426G>A, NM_017556.2:c.426G>C, XM_006710704.4:c.426G>A, XM_006710704.4:c.426G>C, XM_006710704.3:c.426G>A, XM_006710704.3:c.426G>C, XM_006710704.2:c.426G>A, XM_006710704.2:c.426G>C, XM_006710704.1:c.426G>A, XM_006710704.1:c.426G>C, XM_011541617.3:c.426G>A, XM_011541617.3:c.426G>C, XM_011541617.2:c.426G>A, XM_011541617.2:c.426G>C, XM_011541617.1:c.426G>A, XM_011541617.1:c.426G>C, XM_017001526.3:c.426G>A, XM_017001526.3:c.426G>C, XM_017001526.2:c.426G>A, XM_017001526.2:c.426G>C, XM_017001526.1:c.426G>A, XM_017001526.1:c.426G>C, XM_011541616.3:c.426G>A, XM_011541616.3:c.426G>C, XM_011541616.2:c.426G>A, XM_011541616.2:c.426G>C, XM_011541616.1:c.426G>A, XM_011541616.1:c.426G>C, XM_017001521.3:c.426G>A, XM_017001521.3:c.426G>C, XM_017001521.2:c.426G>A, XM_017001521.2:c.426G>C, XM_017001521.1:c.426G>A, XM_017001521.1:c.426G>C, XM_017001519.3:c.426G>A, XM_017001519.3:c.426G>C, XM_017001519.2:c.426G>A, XM_017001519.2:c.426G>C, XM_017001519.1:c.426G>A, XM_017001519.1:c.426G>C, XM_017001520.3:c.426G>A, XM_017001520.3:c.426G>C, XM_017001520.2:c.426G>A, XM_017001520.2:c.426G>C, XM_017001520.1:c.426G>A, XM_017001520.1:c.426G>C, XM_017001525.2:c.426G>A, XM_017001525.2:c.426G>C, XM_017001525.1:c.426G>A, XM_017001525.1:c.426G>C, NM_001350151.2:c.426G>A, NM_001350151.2:c.426G>C, NM_001350151.1:c.426G>A, NM_001350151.1:c.426G>C, XM_005245903.2:c.426G>A, XM_005245903.2:c.426G>C, XM_005245903.1:c.426G>A, XM_005245903.1:c.426G>C, XM_006710705.2:c.426G>A, XM_006710705.2:c.426G>C, XM_006710705.1:c.426G>A, XM_006710705.1:c.426G>C, XM_005245902.2:c.426G>A, XM_005245902.2:c.426G>C, XM_005245902.1:c.426G>A, XM_005245902.1:c.426G>C, XM_005245900.2:c.426G>A, XM_005245900.2:c.426G>C, XM_005245900.1:c.426G>A, XM_005245900.1:c.426G>C, XM_005245901.2:c.426G>A, XM_005245901.2:c.426G>C, XM_005245901.1:c.426G>A, XM_005245901.1:c.426G>C, XM_017001523.2:c.426G>A, XM_017001523.2:c.426G>C, XM_017001523.1:c.426G>A, XM_017001523.1:c.426G>C, XM_017001524.2:c.426G>A, XM_017001524.2:c.426G>C, XM_017001524.1:c.426G>A, XM_017001524.1:c.426G>C, XM_047423104.1:c.426G>A, XM_047423104.1:c.426G>C, XM_047423112.1:c.426G>A, XM_047423112.1:c.426G>C, XM_047423116.1:c.426G>A, XM_047423116.1:c.426G>C, XM_047423128.1:c.426G>A, XM_047423128.1:c.426G>C, XM_047423110.1:c.426G>A, XM_047423110.1:c.426G>C, XM_047423149.1:c.426G>A, XM_047423149.1:c.426G>C, XM_047423133.1:c.426G>A, XM_047423133.1:c.426G>C, XM_047423129.1:c.426G>A, XM_047423129.1:c.426G>C, XM_047423148.1:c.426G>A, XM_047423148.1:c.426G>C, XM_047423151.1:c.426G>A, XM_047423151.1:c.426G>C, XM_047423138.1:c.426G>A, XM_047423138.1:c.426G>C, XM_047423123.1:c.426G>A, XM_047423123.1:c.426G>C, XM_047423158.1:c.426G>A, XM_047423158.1:c.426G>C, XM_047423150.1:c.426G>A, XM_047423150.1:c.426G>C, XM_047423143.1:c.426G>A, XM_047423143.1:c.426G>C, XM_047423141.1:c.426G>A, XM_047423141.1:c.426G>C, XM_047423152.1:c.426G>A, XM_047423152.1:c.426G>C, XM_047423156.1:c.426G>A, XM_047423156.1:c.426G>C, XM_047423162.1:c.426G>A, XM_047423162.1:c.426G>C, XM_047423159.1:c.426G>A, XM_047423159.1:c.426G>C, XM_047423147.1:c.426G>A, XM_047423147.1:c.426G>C, XM_047423172.1:c.426G>A, XM_047423172.1:c.426G>C, XM_047423175.1:c.426G>A, XM_047423175.1:c.426G>C, XM_047423176.1:c.426G>A, XM_047423176.1:c.426G>C, NM_001024215.1:c.426G>A, NM_001024215.1:c.426G>C

    2.

    rs1483940293 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:15767487 (GRCh38)
      1:16093982 (GRCh37)
      Canonical SPDI:
      NC_000001.11:15767486:C:T
      Gene:
      FBLIM1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant
      HGVS:
      NC_000001.11:g.15767487C>T, NC_000001.10:g.16093982C>T, NM_017556.4:c.362C>T, NM_017556.3:c.362C>T, NM_017556.2:c.362C>T, XM_006710704.4:c.362C>T, XM_006710704.3:c.362C>T, XM_006710704.2:c.362C>T, XM_006710704.1:c.362C>T, XM_011541617.3:c.362C>T, XM_011541617.2:c.362C>T, XM_011541617.1:c.362C>T, XM_017001526.3:c.362C>T, XM_017001526.2:c.362C>T, XM_017001526.1:c.362C>T, XM_011541616.3:c.362C>T, XM_011541616.2:c.362C>T, XM_011541616.1:c.362C>T, XM_017001521.3:c.362C>T, XM_017001521.2:c.362C>T, XM_017001521.1:c.362C>T, XM_017001519.3:c.362C>T, XM_017001519.2:c.362C>T, XM_017001519.1:c.362C>T, XM_017001520.3:c.362C>T, XM_017001520.2:c.362C>T, XM_017001520.1:c.362C>T, XM_017001525.2:c.362C>T, XM_017001525.1:c.362C>T, NM_001350151.2:c.362C>T, NM_001350151.1:c.362C>T, XM_005245903.2:c.362C>T, XM_005245903.1:c.362C>T, XM_006710705.2:c.362C>T, XM_006710705.1:c.362C>T, XM_005245902.2:c.362C>T, XM_005245902.1:c.362C>T, XM_005245900.2:c.362C>T, XM_005245900.1:c.362C>T, XM_005245901.2:c.362C>T, XM_005245901.1:c.362C>T, XM_017001523.2:c.362C>T, XM_017001523.1:c.362C>T, XM_017001524.2:c.362C>T, XM_017001524.1:c.362C>T, XM_047423104.1:c.362C>T, XM_047423112.1:c.362C>T, XM_047423116.1:c.362C>T, XM_047423128.1:c.362C>T, XM_047423110.1:c.362C>T, XM_047423149.1:c.362C>T, XM_047423133.1:c.362C>T, XM_047423129.1:c.362C>T, XM_047423148.1:c.362C>T, XM_047423151.1:c.362C>T, XM_047423138.1:c.362C>T, XM_047423123.1:c.362C>T, XM_047423158.1:c.362C>T, XM_047423150.1:c.362C>T, XM_047423143.1:c.362C>T, XM_047423141.1:c.362C>T, XM_047423152.1:c.362C>T, XM_047423156.1:c.362C>T, XM_047423162.1:c.362C>T, XM_047423159.1:c.362C>T, XM_047423147.1:c.362C>T, XM_047423172.1:c.362C>T, XM_047423175.1:c.362C>T, XM_047423176.1:c.362C>T, NM_001024215.1:c.362C>T, NP_060026.2:p.Ala121Val, XP_006710767.1:p.Ala121Val, XP_011539919.1:p.Ala121Val, XP_016857015.1:p.Ala121Val, XP_011539918.1:p.Ala121Val, XP_016857010.1:p.Ala121Val, XP_016857008.1:p.Ala121Val, XP_016857009.1:p.Ala121Val, XP_016857014.1:p.Ala121Val, NP_001337080.1:p.Ala121Val, XP_005245960.1:p.Ala121Val, XP_006710768.1:p.Ala121Val, XP_005245959.1:p.Ala121Val, XP_005245957.1:p.Ala121Val, XP_005245958.1:p.Ala121Val, XP_016857012.1:p.Ala121Val, XP_016857013.1:p.Ala121Val, XP_047279060.1:p.Ala121Val, XP_047279068.1:p.Ala121Val, XP_047279072.1:p.Ala121Val, XP_047279084.1:p.Ala121Val, XP_047279066.1:p.Ala121Val, XP_047279105.1:p.Ala121Val, XP_047279089.1:p.Ala121Val, XP_047279085.1:p.Ala121Val, XP_047279104.1:p.Ala121Val, XP_047279107.1:p.Ala121Val, XP_047279094.1:p.Ala121Val, XP_047279079.1:p.Ala121Val, XP_047279114.1:p.Ala121Val, XP_047279106.1:p.Ala121Val, XP_047279099.1:p.Ala121Val, XP_047279097.1:p.Ala121Val, XP_047279108.1:p.Ala121Val, XP_047279112.1:p.Ala121Val, XP_047279118.1:p.Ala121Val, XP_047279115.1:p.Ala121Val, XP_047279103.1:p.Ala121Val, XP_047279128.1:p.Ala121Val, XP_047279131.1:p.Ala121Val, XP_047279132.1:p.Ala121Val, NP_001019386.1:p.Ala121Val

      3.

      rs1482544771 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:15770566 (GRCh38)
        1:16097061 (GRCh37)
        Canonical SPDI:
        NC_000001.11:15770565:A:G
        Gene:
        FBLIM1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.15770566A>G, NC_000001.10:g.16097061A>G, NM_017556.4:c.699A>G, NM_017556.3:c.699A>G, NM_017556.2:c.699A>G, XM_006710704.4:c.699A>G, XM_006710704.3:c.699A>G, XM_006710704.2:c.699A>G, XM_006710704.1:c.699A>G, XM_011541617.3:c.699A>G, XM_011541617.2:c.699A>G, XM_011541617.1:c.699A>G, NM_001024216.3:c.408A>G, NM_001024216.2:c.408A>G, NM_001024216.1:c.408A>G, XM_017001526.3:c.699A>G, XM_017001526.2:c.699A>G, XM_017001526.1:c.699A>G, XM_011541616.3:c.699A>G, XM_011541616.2:c.699A>G, XM_011541616.1:c.699A>G, XM_017001521.3:c.699A>G, XM_017001521.2:c.699A>G, XM_017001521.1:c.699A>G, XM_017001519.3:c.699A>G, XM_017001519.2:c.699A>G, XM_017001519.1:c.699A>G, XM_017001520.3:c.699A>G, XM_017001520.2:c.699A>G, XM_017001520.1:c.699A>G, XM_017001525.2:c.699A>G, XM_017001525.1:c.699A>G, NM_001350151.2:c.699A>G, NM_001350151.1:c.699A>G, XM_005245903.2:c.699A>G, XM_005245903.1:c.699A>G, XM_006710705.2:c.699A>G, XM_006710705.1:c.699A>G, XM_005245902.2:c.699A>G, XM_005245902.1:c.699A>G, XM_005245900.2:c.699A>G, XM_005245900.1:c.699A>G, XM_005245901.2:c.699A>G, XM_005245901.1:c.699A>G, XM_017001523.2:c.699A>G, XM_017001523.1:c.699A>G, XM_017001524.2:c.699A>G, XM_017001524.1:c.699A>G, XM_047423104.1:c.699A>G, XM_047423112.1:c.699A>G, XM_047423116.1:c.699A>G, XM_047423128.1:c.699A>G, XM_047423110.1:c.699A>G, XM_047423149.1:c.699A>G, XM_047423133.1:c.699A>G, XM_047423129.1:c.699A>G, XM_047423148.1:c.699A>G, XM_047423151.1:c.699A>G, XM_047423138.1:c.699A>G, XM_047423123.1:c.699A>G, XM_047423158.1:c.699A>G, XM_047423150.1:c.699A>G, XM_047423143.1:c.699A>G, XM_047423141.1:c.699A>G, XM_047423152.1:c.699A>G, XM_047423156.1:c.699A>G, XM_047423162.1:c.699A>G, XM_047423159.1:c.699A>G, XM_047423147.1:c.699A>G, XM_047423172.1:c.699A>G, XM_047423175.1:c.699A>G, XM_047423176.1:c.699A>G, NM_001024215.1:c.699A>G

        4.

        rs1481498688 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:15784655 (GRCh38)
          1:16111150 (GRCh37)
          Canonical SPDI:
          NC_000001.11:15784654:C:T
          Gene:
          FBLIM1 (Varview)
          Functional Consequence:
          synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
          HGVS:
          NC_000001.11:g.15784655C>T, NC_000001.10:g.16111150C>T, NM_017556.4:c.1116C>T, NM_017556.3:c.1116C>T, NM_017556.2:c.1116C>T, XM_011541617.3:c.1116C>T, XM_011541617.2:c.1116C>T, XM_011541617.1:c.1116C>T, NM_001024216.3:c.825C>T, NM_001024216.2:c.825C>T, NM_001024216.1:c.825C>T, XM_017001525.2:c.1116C>T, XM_017001525.1:c.1116C>T, NM_001350151.2:c.1116C>T, NM_001350151.1:c.1116C>T, XM_047423104.1:c.1116C>T, XM_047423112.1:c.1116C>T, XM_047423116.1:c.1116C>T, XM_047423128.1:c.1116C>T, XM_047423110.1:c.1116C>T, XM_047423149.1:c.*53C>T, XM_047423133.1:c.1116C>T, XM_047423129.1:c.1116C>T, XM_047423148.1:c.*53C>T, XM_047423151.1:c.*53C>T, XM_047423138.1:c.1116C>T, XM_047423123.1:c.1116C>T, XM_047423158.1:c.*53C>T, XM_047423150.1:c.*53C>T, XM_047423143.1:c.1116C>T, XM_047423141.1:c.1116C>T, XM_047423152.1:c.*53C>T, XM_047423156.1:c.*53C>T

          5.

          rs1479891876 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:15765010 (GRCh38)
            1:16091505 (GRCh37)
            Canonical SPDI:
            NC_000001.11:15765009:G:A
            Gene:
            FBLIM1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.15765010G>A, NC_000001.10:g.16091505G>A, NM_017556.4:c.27G>A, NM_017556.3:c.27G>A, NM_017556.2:c.27G>A, XM_006710704.4:c.27G>A, XM_006710704.3:c.27G>A, XM_006710704.2:c.27G>A, XM_006710704.1:c.27G>A, XM_011541617.3:c.27G>A, XM_011541617.2:c.27G>A, XM_011541617.1:c.27G>A, NM_001024216.3:c.27G>A, NM_001024216.2:c.27G>A, NM_001024216.1:c.27G>A, XM_017001526.3:c.27G>A, XM_017001526.2:c.27G>A, XM_017001526.1:c.27G>A, XM_011541616.3:c.27G>A, XM_011541616.2:c.27G>A, XM_011541616.1:c.27G>A, XM_017001521.3:c.27G>A, XM_017001521.2:c.27G>A, XM_017001521.1:c.27G>A, XM_017001519.3:c.27G>A, XM_017001519.2:c.27G>A, XM_017001519.1:c.27G>A, XM_017001520.3:c.27G>A, XM_017001520.2:c.27G>A, XM_017001520.1:c.27G>A, XM_017001525.2:c.27G>A, XM_017001525.1:c.27G>A, NM_001350151.2:c.27G>A, NM_001350151.1:c.27G>A, XM_005245903.2:c.27G>A, XM_005245903.1:c.27G>A, XM_006710705.2:c.27G>A, XM_006710705.1:c.27G>A, XM_005245902.2:c.27G>A, XM_005245902.1:c.27G>A, XM_005245900.2:c.27G>A, XM_005245900.1:c.27G>A, XM_005245901.2:c.27G>A, XM_005245901.1:c.27G>A, XM_017001523.2:c.27G>A, XM_017001523.1:c.27G>A, XM_017001524.2:c.27G>A, XM_017001524.1:c.27G>A, XM_047423104.1:c.27G>A, XM_047423112.1:c.27G>A, XM_047423116.1:c.27G>A, XM_047423128.1:c.27G>A, XM_047423110.1:c.27G>A, XM_047423149.1:c.27G>A, XM_047423133.1:c.27G>A, XM_047423129.1:c.27G>A, XM_047423148.1:c.27G>A, XM_047423151.1:c.27G>A, XM_047423138.1:c.27G>A, XM_047423123.1:c.27G>A, XM_047423158.1:c.27G>A, XM_047423150.1:c.27G>A, XM_047423143.1:c.27G>A, XM_047423141.1:c.27G>A, XM_047423152.1:c.27G>A, XM_047423156.1:c.27G>A, XM_047423162.1:c.27G>A, XM_047423159.1:c.27G>A, XM_047423147.1:c.27G>A, XM_047423172.1:c.27G>A, XM_047423175.1:c.27G>A, XM_047423176.1:c.27G>A, NM_001024215.1:c.27G>A

            6.

            rs1474459842 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:15767464 (GRCh38)
              1:16093959 (GRCh37)
              Canonical SPDI:
              NC_000001.11:15767463:G:A
              Gene:
              FBLIM1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/1 (GnomAD)
              HGVS:
              NC_000001.11:g.15767464G>A, NC_000001.10:g.16093959G>A, NM_017556.4:c.339G>A, NM_017556.3:c.339G>A, NM_017556.2:c.339G>A, XM_006710704.4:c.339G>A, XM_006710704.3:c.339G>A, XM_006710704.2:c.339G>A, XM_006710704.1:c.339G>A, XM_011541617.3:c.339G>A, XM_011541617.2:c.339G>A, XM_011541617.1:c.339G>A, XM_017001526.3:c.339G>A, XM_017001526.2:c.339G>A, XM_017001526.1:c.339G>A, XM_011541616.3:c.339G>A, XM_011541616.2:c.339G>A, XM_011541616.1:c.339G>A, XM_017001521.3:c.339G>A, XM_017001521.2:c.339G>A, XM_017001521.1:c.339G>A, XM_017001519.3:c.339G>A, XM_017001519.2:c.339G>A, XM_017001519.1:c.339G>A, XM_017001520.3:c.339G>A, XM_017001520.2:c.339G>A, XM_017001520.1:c.339G>A, XM_017001525.2:c.339G>A, XM_017001525.1:c.339G>A, NM_001350151.2:c.339G>A, NM_001350151.1:c.339G>A, XM_005245903.2:c.339G>A, XM_005245903.1:c.339G>A, XM_006710705.2:c.339G>A, XM_006710705.1:c.339G>A, XM_005245902.2:c.339G>A, XM_005245902.1:c.339G>A, XM_005245900.2:c.339G>A, XM_005245900.1:c.339G>A, XM_005245901.2:c.339G>A, XM_005245901.1:c.339G>A, XM_017001523.2:c.339G>A, XM_017001523.1:c.339G>A, XM_017001524.2:c.339G>A, XM_017001524.1:c.339G>A, XM_047423104.1:c.339G>A, XM_047423112.1:c.339G>A, XM_047423116.1:c.339G>A, XM_047423128.1:c.339G>A, XM_047423110.1:c.339G>A, XM_047423149.1:c.339G>A, XM_047423133.1:c.339G>A, XM_047423129.1:c.339G>A, XM_047423148.1:c.339G>A, XM_047423151.1:c.339G>A, XM_047423138.1:c.339G>A, XM_047423123.1:c.339G>A, XM_047423158.1:c.339G>A, XM_047423150.1:c.339G>A, XM_047423143.1:c.339G>A, XM_047423141.1:c.339G>A, XM_047423152.1:c.339G>A, XM_047423156.1:c.339G>A, XM_047423162.1:c.339G>A, XM_047423159.1:c.339G>A, XM_047423147.1:c.339G>A, XM_047423172.1:c.339G>A, XM_047423175.1:c.339G>A, XM_047423176.1:c.339G>A, NM_001024215.1:c.339G>A

              7.

              rs1471937680 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:15770509 (GRCh38)
                1:16097004 (GRCh37)
                Canonical SPDI:
                NC_000001.11:15770508:C:T
                Gene:
                FBLIM1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.15770509C>T, NC_000001.10:g.16097004C>T, NM_017556.4:c.642C>T, NM_017556.3:c.642C>T, NM_017556.2:c.642C>T, XM_006710704.4:c.642C>T, XM_006710704.3:c.642C>T, XM_006710704.2:c.642C>T, XM_006710704.1:c.642C>T, XM_011541617.3:c.642C>T, XM_011541617.2:c.642C>T, XM_011541617.1:c.642C>T, NM_001024216.3:c.351C>T, NM_001024216.2:c.351C>T, NM_001024216.1:c.351C>T, XM_017001526.3:c.642C>T, XM_017001526.2:c.642C>T, XM_017001526.1:c.642C>T, XM_011541616.3:c.642C>T, XM_011541616.2:c.642C>T, XM_011541616.1:c.642C>T, XM_017001521.3:c.642C>T, XM_017001521.2:c.642C>T, XM_017001521.1:c.642C>T, XM_017001519.3:c.642C>T, XM_017001519.2:c.642C>T, XM_017001519.1:c.642C>T, XM_017001520.3:c.642C>T, XM_017001520.2:c.642C>T, XM_017001520.1:c.642C>T, XM_017001525.2:c.642C>T, XM_017001525.1:c.642C>T, NM_001350151.2:c.642C>T, NM_001350151.1:c.642C>T, XM_005245903.2:c.642C>T, XM_005245903.1:c.642C>T, XM_006710705.2:c.642C>T, XM_006710705.1:c.642C>T, XM_005245902.2:c.642C>T, XM_005245902.1:c.642C>T, XM_005245900.2:c.642C>T, XM_005245900.1:c.642C>T, XM_005245901.2:c.642C>T, XM_005245901.1:c.642C>T, XM_017001523.2:c.642C>T, XM_017001523.1:c.642C>T, XM_017001524.2:c.642C>T, XM_017001524.1:c.642C>T, XM_047423104.1:c.642C>T, XM_047423112.1:c.642C>T, XM_047423116.1:c.642C>T, XM_047423128.1:c.642C>T, XM_047423110.1:c.642C>T, XM_047423149.1:c.642C>T, XM_047423133.1:c.642C>T, XM_047423129.1:c.642C>T, XM_047423148.1:c.642C>T, XM_047423151.1:c.642C>T, XM_047423138.1:c.642C>T, XM_047423123.1:c.642C>T, XM_047423158.1:c.642C>T, XM_047423150.1:c.642C>T, XM_047423143.1:c.642C>T, XM_047423141.1:c.642C>T, XM_047423152.1:c.642C>T, XM_047423156.1:c.642C>T, XM_047423162.1:c.642C>T, XM_047423159.1:c.642C>T, XM_047423147.1:c.642C>T, XM_047423172.1:c.642C>T, XM_047423175.1:c.642C>T, XM_047423176.1:c.642C>T, NM_001024215.1:c.642C>T

                8.

                rs1471618559 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:15768541 (GRCh38)
                  1:16095036 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:15768540:G:A
                  Gene:
                  FBLIM1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,intron_variant
                  HGVS:
                  NC_000001.11:g.15768541G>A, NC_000001.10:g.16095036G>A, NM_017556.4:c.452G>A, NM_017556.3:c.452G>A, NM_017556.2:c.452G>A, XM_006710704.4:c.452G>A, XM_006710704.3:c.452G>A, XM_006710704.2:c.452G>A, XM_006710704.1:c.452G>A, XM_011541617.3:c.452G>A, XM_011541617.2:c.452G>A, XM_011541617.1:c.452G>A, XM_017001526.3:c.452G>A, XM_017001526.2:c.452G>A, XM_017001526.1:c.452G>A, XM_011541616.3:c.452G>A, XM_011541616.2:c.452G>A, XM_011541616.1:c.452G>A, XM_017001521.3:c.452G>A, XM_017001521.2:c.452G>A, XM_017001521.1:c.452G>A, XM_017001519.3:c.452G>A, XM_017001519.2:c.452G>A, XM_017001519.1:c.452G>A, XM_017001520.3:c.452G>A, XM_017001520.2:c.452G>A, XM_017001520.1:c.452G>A, XM_017001525.2:c.452G>A, XM_017001525.1:c.452G>A, NM_001350151.2:c.452G>A, NM_001350151.1:c.452G>A, XM_005245903.2:c.452G>A, XM_005245903.1:c.452G>A, XM_006710705.2:c.452G>A, XM_006710705.1:c.452G>A, XM_005245902.2:c.452G>A, XM_005245902.1:c.452G>A, XM_005245900.2:c.452G>A, XM_005245900.1:c.452G>A, XM_005245901.2:c.452G>A, XM_005245901.1:c.452G>A, XM_017001523.2:c.452G>A, XM_017001523.1:c.452G>A, XM_017001524.2:c.452G>A, XM_017001524.1:c.452G>A, XM_047423104.1:c.452G>A, XM_047423112.1:c.452G>A, XM_047423116.1:c.452G>A, XM_047423128.1:c.452G>A, XM_047423110.1:c.452G>A, XM_047423149.1:c.452G>A, XM_047423133.1:c.452G>A, XM_047423129.1:c.452G>A, XM_047423148.1:c.452G>A, XM_047423151.1:c.452G>A, XM_047423138.1:c.452G>A, XM_047423123.1:c.452G>A, XM_047423158.1:c.452G>A, XM_047423150.1:c.452G>A, XM_047423143.1:c.452G>A, XM_047423141.1:c.452G>A, XM_047423152.1:c.452G>A, XM_047423156.1:c.452G>A, XM_047423162.1:c.452G>A, XM_047423159.1:c.452G>A, XM_047423147.1:c.452G>A, XM_047423172.1:c.452G>A, XM_047423175.1:c.452G>A, XM_047423176.1:c.452G>A, NM_001024215.1:c.452G>A, NP_060026.2:p.Gly151Glu, XP_006710767.1:p.Gly151Glu, XP_011539919.1:p.Gly151Glu, XP_016857015.1:p.Gly151Glu, XP_011539918.1:p.Gly151Glu, XP_016857010.1:p.Gly151Glu, XP_016857008.1:p.Gly151Glu, XP_016857009.1:p.Gly151Glu, XP_016857014.1:p.Gly151Glu, NP_001337080.1:p.Gly151Glu, XP_005245960.1:p.Gly151Glu, XP_006710768.1:p.Gly151Glu, XP_005245959.1:p.Gly151Glu, XP_005245957.1:p.Gly151Glu, XP_005245958.1:p.Gly151Glu, XP_016857012.1:p.Gly151Glu, XP_016857013.1:p.Gly151Glu, XP_047279060.1:p.Gly151Glu, XP_047279068.1:p.Gly151Glu, XP_047279072.1:p.Gly151Glu, XP_047279084.1:p.Gly151Glu, XP_047279066.1:p.Gly151Glu, XP_047279105.1:p.Gly151Glu, XP_047279089.1:p.Gly151Glu, XP_047279085.1:p.Gly151Glu, XP_047279104.1:p.Gly151Glu, XP_047279107.1:p.Gly151Glu, XP_047279094.1:p.Gly151Glu, XP_047279079.1:p.Gly151Glu, XP_047279114.1:p.Gly151Glu, XP_047279106.1:p.Gly151Glu, XP_047279099.1:p.Gly151Glu, XP_047279097.1:p.Gly151Glu, XP_047279108.1:p.Gly151Glu, XP_047279112.1:p.Gly151Glu, XP_047279118.1:p.Gly151Glu, XP_047279115.1:p.Gly151Glu, XP_047279103.1:p.Gly151Glu, XP_047279128.1:p.Gly151Glu, XP_047279131.1:p.Gly151Glu, XP_047279132.1:p.Gly151Glu, NP_001019386.1:p.Gly151Glu

                  9.

                  rs1465767476 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    1:15768528 (GRCh38)
                    1:16095023 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:15768527:G:T
                    Gene:
                    FBLIM1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.15768528G>T, NC_000001.10:g.16095023G>T, NM_017556.4:c.439G>T, NM_017556.3:c.439G>T, NM_017556.2:c.439G>T, XM_006710704.4:c.439G>T, XM_006710704.3:c.439G>T, XM_006710704.2:c.439G>T, XM_006710704.1:c.439G>T, XM_011541617.3:c.439G>T, XM_011541617.2:c.439G>T, XM_011541617.1:c.439G>T, XM_017001526.3:c.439G>T, XM_017001526.2:c.439G>T, XM_017001526.1:c.439G>T, XM_011541616.3:c.439G>T, XM_011541616.2:c.439G>T, XM_011541616.1:c.439G>T, XM_017001521.3:c.439G>T, XM_017001521.2:c.439G>T, XM_017001521.1:c.439G>T, XM_017001519.3:c.439G>T, XM_017001519.2:c.439G>T, XM_017001519.1:c.439G>T, XM_017001520.3:c.439G>T, XM_017001520.2:c.439G>T, XM_017001520.1:c.439G>T, XM_017001525.2:c.439G>T, XM_017001525.1:c.439G>T, NM_001350151.2:c.439G>T, NM_001350151.1:c.439G>T, XM_005245903.2:c.439G>T, XM_005245903.1:c.439G>T, XM_006710705.2:c.439G>T, XM_006710705.1:c.439G>T, XM_005245902.2:c.439G>T, XM_005245902.1:c.439G>T, XM_005245900.2:c.439G>T, XM_005245900.1:c.439G>T, XM_005245901.2:c.439G>T, XM_005245901.1:c.439G>T, XM_017001523.2:c.439G>T, XM_017001523.1:c.439G>T, XM_017001524.2:c.439G>T, XM_017001524.1:c.439G>T, XM_047423104.1:c.439G>T, XM_047423112.1:c.439G>T, XM_047423116.1:c.439G>T, XM_047423128.1:c.439G>T, XM_047423110.1:c.439G>T, XM_047423149.1:c.439G>T, XM_047423133.1:c.439G>T, XM_047423129.1:c.439G>T, XM_047423148.1:c.439G>T, XM_047423151.1:c.439G>T, XM_047423138.1:c.439G>T, XM_047423123.1:c.439G>T, XM_047423158.1:c.439G>T, XM_047423150.1:c.439G>T, XM_047423143.1:c.439G>T, XM_047423141.1:c.439G>T, XM_047423152.1:c.439G>T, XM_047423156.1:c.439G>T, XM_047423162.1:c.439G>T, XM_047423159.1:c.439G>T, XM_047423147.1:c.439G>T, XM_047423172.1:c.439G>T, XM_047423175.1:c.439G>T, XM_047423176.1:c.439G>T, NM_001024215.1:c.439G>T, NP_060026.2:p.Ala147Ser, XP_006710767.1:p.Ala147Ser, XP_011539919.1:p.Ala147Ser, XP_016857015.1:p.Ala147Ser, XP_011539918.1:p.Ala147Ser, XP_016857010.1:p.Ala147Ser, XP_016857008.1:p.Ala147Ser, XP_016857009.1:p.Ala147Ser, XP_016857014.1:p.Ala147Ser, NP_001337080.1:p.Ala147Ser, XP_005245960.1:p.Ala147Ser, XP_006710768.1:p.Ala147Ser, XP_005245959.1:p.Ala147Ser, XP_005245957.1:p.Ala147Ser, XP_005245958.1:p.Ala147Ser, XP_016857012.1:p.Ala147Ser, XP_016857013.1:p.Ala147Ser, XP_047279060.1:p.Ala147Ser, XP_047279068.1:p.Ala147Ser, XP_047279072.1:p.Ala147Ser, XP_047279084.1:p.Ala147Ser, XP_047279066.1:p.Ala147Ser, XP_047279105.1:p.Ala147Ser, XP_047279089.1:p.Ala147Ser, XP_047279085.1:p.Ala147Ser, XP_047279104.1:p.Ala147Ser, XP_047279107.1:p.Ala147Ser, XP_047279094.1:p.Ala147Ser, XP_047279079.1:p.Ala147Ser, XP_047279114.1:p.Ala147Ser, XP_047279106.1:p.Ala147Ser, XP_047279099.1:p.Ala147Ser, XP_047279097.1:p.Ala147Ser, XP_047279108.1:p.Ala147Ser, XP_047279112.1:p.Ala147Ser, XP_047279118.1:p.Ala147Ser, XP_047279115.1:p.Ala147Ser, XP_047279103.1:p.Ala147Ser, XP_047279128.1:p.Ala147Ser, XP_047279131.1:p.Ala147Ser, XP_047279132.1:p.Ala147Ser, NP_001019386.1:p.Ala147Ser

                    10.

                    rs1465301943 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:15774796 (GRCh38)
                      1:16101291 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:15774795:G:A
                      Gene:
                      FBLIM1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      A=0.000026/7 (TOPMED)
                      HGVS:
                      NC_000001.11:g.15774796G>A, NC_000001.10:g.16101291G>A, NM_017556.4:c.890G>A, NM_017556.3:c.890G>A, NM_017556.2:c.890G>A, XM_006710704.4:c.890G>A, XM_006710704.3:c.890G>A, XM_006710704.2:c.890G>A, XM_006710704.1:c.890G>A, XM_011541617.3:c.890G>A, XM_011541617.2:c.890G>A, XM_011541617.1:c.890G>A, NM_001024216.3:c.599G>A, NM_001024216.2:c.599G>A, NM_001024216.1:c.599G>A, XM_017001526.3:c.890G>A, XM_017001526.2:c.890G>A, XM_017001526.1:c.890G>A, XM_011541616.3:c.890G>A, XM_011541616.2:c.890G>A, XM_011541616.1:c.890G>A, XM_017001521.3:c.890G>A, XM_017001521.2:c.890G>A, XM_017001521.1:c.890G>A, XM_017001519.3:c.890G>A, XM_017001519.2:c.890G>A, XM_017001519.1:c.890G>A, XM_017001520.3:c.890G>A, XM_017001520.2:c.890G>A, XM_017001520.1:c.890G>A, XM_017001525.2:c.890G>A, XM_017001525.1:c.890G>A, NM_001350151.2:c.890G>A, NM_001350151.1:c.890G>A, XM_005245903.2:c.890G>A, XM_005245903.1:c.890G>A, XM_006710705.2:c.890G>A, XM_006710705.1:c.890G>A, XM_005245902.2:c.890G>A, XM_005245902.1:c.890G>A, XM_005245900.2:c.890G>A, XM_005245900.1:c.890G>A, XM_005245901.2:c.890G>A, XM_005245901.1:c.890G>A, XM_017001523.2:c.890G>A, XM_017001523.1:c.890G>A, XM_017001524.2:c.890G>A, XM_017001524.1:c.890G>A, XM_047423104.1:c.890G>A, XM_047423112.1:c.890G>A, XM_047423116.1:c.890G>A, XM_047423128.1:c.890G>A, XM_047423110.1:c.890G>A, XM_047423149.1:c.890G>A, XM_047423133.1:c.890G>A, XM_047423129.1:c.890G>A, XM_047423148.1:c.890G>A, XM_047423151.1:c.890G>A, XM_047423138.1:c.890G>A, XM_047423123.1:c.890G>A, XM_047423158.1:c.890G>A, XM_047423150.1:c.890G>A, XM_047423143.1:c.890G>A, XM_047423141.1:c.890G>A, XM_047423152.1:c.890G>A, XM_047423156.1:c.890G>A, XM_047423162.1:c.890G>A, XM_047423159.1:c.890G>A, XM_047423147.1:c.890G>A, XM_047423172.1:c.890G>A, XM_047423175.1:c.890G>A, XM_047423176.1:c.890G>A, NM_001024215.1:c.890G>A, NP_060026.2:p.Arg297Lys, XP_006710767.1:p.Arg297Lys, XP_011539919.1:p.Arg297Lys, NP_001019387.1:p.Arg200Lys, XP_016857015.1:p.Arg297Lys, XP_011539918.1:p.Arg297Lys, XP_016857010.1:p.Arg297Lys, XP_016857008.1:p.Arg297Lys, XP_016857009.1:p.Arg297Lys, XP_016857014.1:p.Arg297Lys, NP_001337080.1:p.Arg297Lys, XP_005245960.1:p.Arg297Lys, XP_006710768.1:p.Arg297Lys, XP_005245959.1:p.Arg297Lys, XP_005245957.1:p.Arg297Lys, XP_005245958.1:p.Arg297Lys, XP_016857012.1:p.Arg297Lys, XP_016857013.1:p.Arg297Lys, XP_047279060.1:p.Arg297Lys, XP_047279068.1:p.Arg297Lys, XP_047279072.1:p.Arg297Lys, XP_047279084.1:p.Arg297Lys, XP_047279066.1:p.Arg297Lys, XP_047279105.1:p.Arg297Lys, XP_047279089.1:p.Arg297Lys, XP_047279085.1:p.Arg297Lys, XP_047279104.1:p.Arg297Lys, XP_047279107.1:p.Arg297Lys, XP_047279094.1:p.Arg297Lys, XP_047279079.1:p.Arg297Lys, XP_047279114.1:p.Arg297Lys, XP_047279106.1:p.Arg297Lys, XP_047279099.1:p.Arg297Lys, XP_047279097.1:p.Arg297Lys, XP_047279108.1:p.Arg297Lys, XP_047279112.1:p.Arg297Lys, XP_047279118.1:p.Arg297Lys, XP_047279115.1:p.Arg297Lys, XP_047279103.1:p.Arg297Lys, XP_047279128.1:p.Arg297Lys, XP_047279131.1:p.Arg297Lys, XP_047279132.1:p.Arg297Lys, NP_001019386.1:p.Arg297Lys

                      11.

                      rs1461749925 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:15767442 (GRCh38)
                        1:16093937 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:15767441:C:T
                        Gene:
                        FBLIM1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.15767442C>T, NC_000001.10:g.16093937C>T, NM_017556.4:c.317C>T, NM_017556.3:c.317C>T, NM_017556.2:c.317C>T, XM_006710704.4:c.317C>T, XM_006710704.3:c.317C>T, XM_006710704.2:c.317C>T, XM_006710704.1:c.317C>T, XM_011541617.3:c.317C>T, XM_011541617.2:c.317C>T, XM_011541617.1:c.317C>T, XM_017001526.3:c.317C>T, XM_017001526.2:c.317C>T, XM_017001526.1:c.317C>T, XM_011541616.3:c.317C>T, XM_011541616.2:c.317C>T, XM_011541616.1:c.317C>T, XM_017001521.3:c.317C>T, XM_017001521.2:c.317C>T, XM_017001521.1:c.317C>T, XM_017001519.3:c.317C>T, XM_017001519.2:c.317C>T, XM_017001519.1:c.317C>T, XM_017001520.3:c.317C>T, XM_017001520.2:c.317C>T, XM_017001520.1:c.317C>T, XM_017001525.2:c.317C>T, XM_017001525.1:c.317C>T, NM_001350151.2:c.317C>T, NM_001350151.1:c.317C>T, XM_005245903.2:c.317C>T, XM_005245903.1:c.317C>T, XM_006710705.2:c.317C>T, XM_006710705.1:c.317C>T, XM_005245902.2:c.317C>T, XM_005245902.1:c.317C>T, XM_005245900.2:c.317C>T, XM_005245900.1:c.317C>T, XM_005245901.2:c.317C>T, XM_005245901.1:c.317C>T, XM_017001523.2:c.317C>T, XM_017001523.1:c.317C>T, XM_017001524.2:c.317C>T, XM_017001524.1:c.317C>T, XM_047423104.1:c.317C>T, XM_047423112.1:c.317C>T, XM_047423116.1:c.317C>T, XM_047423128.1:c.317C>T, XM_047423110.1:c.317C>T, XM_047423149.1:c.317C>T, XM_047423133.1:c.317C>T, XM_047423129.1:c.317C>T, XM_047423148.1:c.317C>T, XM_047423151.1:c.317C>T, XM_047423138.1:c.317C>T, XM_047423123.1:c.317C>T, XM_047423158.1:c.317C>T, XM_047423150.1:c.317C>T, XM_047423143.1:c.317C>T, XM_047423141.1:c.317C>T, XM_047423152.1:c.317C>T, XM_047423156.1:c.317C>T, XM_047423162.1:c.317C>T, XM_047423159.1:c.317C>T, XM_047423147.1:c.317C>T, XM_047423172.1:c.317C>T, XM_047423175.1:c.317C>T, XM_047423176.1:c.317C>T, NM_001024215.1:c.317C>T, NP_060026.2:p.Pro106Leu, XP_006710767.1:p.Pro106Leu, XP_011539919.1:p.Pro106Leu, XP_016857015.1:p.Pro106Leu, XP_011539918.1:p.Pro106Leu, XP_016857010.1:p.Pro106Leu, XP_016857008.1:p.Pro106Leu, XP_016857009.1:p.Pro106Leu, XP_016857014.1:p.Pro106Leu, NP_001337080.1:p.Pro106Leu, XP_005245960.1:p.Pro106Leu, XP_006710768.1:p.Pro106Leu, XP_005245959.1:p.Pro106Leu, XP_005245957.1:p.Pro106Leu, XP_005245958.1:p.Pro106Leu, XP_016857012.1:p.Pro106Leu, XP_016857013.1:p.Pro106Leu, XP_047279060.1:p.Pro106Leu, XP_047279068.1:p.Pro106Leu, XP_047279072.1:p.Pro106Leu, XP_047279084.1:p.Pro106Leu, XP_047279066.1:p.Pro106Leu, XP_047279105.1:p.Pro106Leu, XP_047279089.1:p.Pro106Leu, XP_047279085.1:p.Pro106Leu, XP_047279104.1:p.Pro106Leu, XP_047279107.1:p.Pro106Leu, XP_047279094.1:p.Pro106Leu, XP_047279079.1:p.Pro106Leu, XP_047279114.1:p.Pro106Leu, XP_047279106.1:p.Pro106Leu, XP_047279099.1:p.Pro106Leu, XP_047279097.1:p.Pro106Leu, XP_047279108.1:p.Pro106Leu, XP_047279112.1:p.Pro106Leu, XP_047279118.1:p.Pro106Leu, XP_047279115.1:p.Pro106Leu, XP_047279103.1:p.Pro106Leu, XP_047279128.1:p.Pro106Leu, XP_047279131.1:p.Pro106Leu, XP_047279132.1:p.Pro106Leu, NP_001019386.1:p.Pro106Leu

                        12.

                        rs1461044287 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:15767512 (GRCh38)
                          1:16094007 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:15767511:C:T
                          Gene:
                          FBLIM1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.15767512C>T, NC_000001.10:g.16094007C>T, NM_017556.4:c.387C>T, NM_017556.3:c.387C>T, NM_017556.2:c.387C>T, XM_006710704.4:c.387C>T, XM_006710704.3:c.387C>T, XM_006710704.2:c.387C>T, XM_006710704.1:c.387C>T, XM_011541617.3:c.387C>T, XM_011541617.2:c.387C>T, XM_011541617.1:c.387C>T, XM_017001526.3:c.387C>T, XM_017001526.2:c.387C>T, XM_017001526.1:c.387C>T, XM_011541616.3:c.387C>T, XM_011541616.2:c.387C>T, XM_011541616.1:c.387C>T, XM_017001521.3:c.387C>T, XM_017001521.2:c.387C>T, XM_017001521.1:c.387C>T, XM_017001519.3:c.387C>T, XM_017001519.2:c.387C>T, XM_017001519.1:c.387C>T, XM_017001520.3:c.387C>T, XM_017001520.2:c.387C>T, XM_017001520.1:c.387C>T, XM_017001525.2:c.387C>T, XM_017001525.1:c.387C>T, NM_001350151.2:c.387C>T, NM_001350151.1:c.387C>T, XM_005245903.2:c.387C>T, XM_005245903.1:c.387C>T, XM_006710705.2:c.387C>T, XM_006710705.1:c.387C>T, XM_005245902.2:c.387C>T, XM_005245902.1:c.387C>T, XM_005245900.2:c.387C>T, XM_005245900.1:c.387C>T, XM_005245901.2:c.387C>T, XM_005245901.1:c.387C>T, XM_017001523.2:c.387C>T, XM_017001523.1:c.387C>T, XM_017001524.2:c.387C>T, XM_017001524.1:c.387C>T, XM_047423104.1:c.387C>T, XM_047423112.1:c.387C>T, XM_047423116.1:c.387C>T, XM_047423128.1:c.387C>T, XM_047423110.1:c.387C>T, XM_047423149.1:c.387C>T, XM_047423133.1:c.387C>T, XM_047423129.1:c.387C>T, XM_047423148.1:c.387C>T, XM_047423151.1:c.387C>T, XM_047423138.1:c.387C>T, XM_047423123.1:c.387C>T, XM_047423158.1:c.387C>T, XM_047423150.1:c.387C>T, XM_047423143.1:c.387C>T, XM_047423141.1:c.387C>T, XM_047423152.1:c.387C>T, XM_047423156.1:c.387C>T, XM_047423162.1:c.387C>T, XM_047423159.1:c.387C>T, XM_047423147.1:c.387C>T, XM_047423172.1:c.387C>T, XM_047423175.1:c.387C>T, XM_047423176.1:c.387C>T, NM_001024215.1:c.387C>T

                          13.

                          rs1459568483 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:15770432 (GRCh38)
                            1:16096927 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:15770431:A:G
                            Gene:
                            FBLIM1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            NC_000001.11:g.15770432A>G, NC_000001.10:g.16096927A>G, NM_017556.4:c.565A>G, NM_017556.3:c.565A>G, NM_017556.2:c.565A>G, XM_006710704.4:c.565A>G, XM_006710704.3:c.565A>G, XM_006710704.2:c.565A>G, XM_006710704.1:c.565A>G, XM_011541617.3:c.565A>G, XM_011541617.2:c.565A>G, XM_011541617.1:c.565A>G, NM_001024216.3:c.274A>G, NM_001024216.2:c.274A>G, NM_001024216.1:c.274A>G, XM_017001526.3:c.565A>G, XM_017001526.2:c.565A>G, XM_017001526.1:c.565A>G, XM_011541616.3:c.565A>G, XM_011541616.2:c.565A>G, XM_011541616.1:c.565A>G, XM_017001521.3:c.565A>G, XM_017001521.2:c.565A>G, XM_017001521.1:c.565A>G, XM_017001519.3:c.565A>G, XM_017001519.2:c.565A>G, XM_017001519.1:c.565A>G, XM_017001520.3:c.565A>G, XM_017001520.2:c.565A>G, XM_017001520.1:c.565A>G, XM_017001525.2:c.565A>G, XM_017001525.1:c.565A>G, NM_001350151.2:c.565A>G, NM_001350151.1:c.565A>G, XM_005245903.2:c.565A>G, XM_005245903.1:c.565A>G, XM_006710705.2:c.565A>G, XM_006710705.1:c.565A>G, XM_005245902.2:c.565A>G, XM_005245902.1:c.565A>G, XM_005245900.2:c.565A>G, XM_005245900.1:c.565A>G, XM_005245901.2:c.565A>G, XM_005245901.1:c.565A>G, XM_017001523.2:c.565A>G, XM_017001523.1:c.565A>G, XM_017001524.2:c.565A>G, XM_017001524.1:c.565A>G, XM_047423104.1:c.565A>G, XM_047423112.1:c.565A>G, XM_047423116.1:c.565A>G, XM_047423128.1:c.565A>G, XM_047423110.1:c.565A>G, XM_047423149.1:c.565A>G, XM_047423133.1:c.565A>G, XM_047423129.1:c.565A>G, XM_047423148.1:c.565A>G, XM_047423151.1:c.565A>G, XM_047423138.1:c.565A>G, XM_047423123.1:c.565A>G, XM_047423158.1:c.565A>G, XM_047423150.1:c.565A>G, XM_047423143.1:c.565A>G, XM_047423141.1:c.565A>G, XM_047423152.1:c.565A>G, XM_047423156.1:c.565A>G, XM_047423162.1:c.565A>G, XM_047423159.1:c.565A>G, XM_047423147.1:c.565A>G, XM_047423172.1:c.565A>G, XM_047423175.1:c.565A>G, XM_047423176.1:c.565A>G, NM_001024215.1:c.565A>G, NP_060026.2:p.Thr189Ala, XP_006710767.1:p.Thr189Ala, XP_011539919.1:p.Thr189Ala, NP_001019387.1:p.Thr92Ala, XP_016857015.1:p.Thr189Ala, XP_011539918.1:p.Thr189Ala, XP_016857010.1:p.Thr189Ala, XP_016857008.1:p.Thr189Ala, XP_016857009.1:p.Thr189Ala, XP_016857014.1:p.Thr189Ala, NP_001337080.1:p.Thr189Ala, XP_005245960.1:p.Thr189Ala, XP_006710768.1:p.Thr189Ala, XP_005245959.1:p.Thr189Ala, XP_005245957.1:p.Thr189Ala, XP_005245958.1:p.Thr189Ala, XP_016857012.1:p.Thr189Ala, XP_016857013.1:p.Thr189Ala, XP_047279060.1:p.Thr189Ala, XP_047279068.1:p.Thr189Ala, XP_047279072.1:p.Thr189Ala, XP_047279084.1:p.Thr189Ala, XP_047279066.1:p.Thr189Ala, XP_047279105.1:p.Thr189Ala, XP_047279089.1:p.Thr189Ala, XP_047279085.1:p.Thr189Ala, XP_047279104.1:p.Thr189Ala, XP_047279107.1:p.Thr189Ala, XP_047279094.1:p.Thr189Ala, XP_047279079.1:p.Thr189Ala, XP_047279114.1:p.Thr189Ala, XP_047279106.1:p.Thr189Ala, XP_047279099.1:p.Thr189Ala, XP_047279097.1:p.Thr189Ala, XP_047279108.1:p.Thr189Ala, XP_047279112.1:p.Thr189Ala, XP_047279118.1:p.Thr189Ala, XP_047279115.1:p.Thr189Ala, XP_047279103.1:p.Thr189Ala, XP_047279128.1:p.Thr189Ala, XP_047279131.1:p.Thr189Ala, XP_047279132.1:p.Thr189Ala, NP_001019386.1:p.Thr189Ala

                            14.

                            rs1457313597 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:15767555 (GRCh38)
                              1:16094050 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:15767554:C:T
                              Gene:
                              FBLIM1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.15767555C>T, NC_000001.10:g.16094050C>T, NM_017556.4:c.430C>T, NM_017556.3:c.430C>T, NM_017556.2:c.430C>T, XM_006710704.4:c.430C>T, XM_006710704.3:c.430C>T, XM_006710704.2:c.430C>T, XM_006710704.1:c.430C>T, XM_011541617.3:c.430C>T, XM_011541617.2:c.430C>T, XM_011541617.1:c.430C>T, XM_017001526.3:c.430C>T, XM_017001526.2:c.430C>T, XM_017001526.1:c.430C>T, XM_011541616.3:c.430C>T, XM_011541616.2:c.430C>T, XM_011541616.1:c.430C>T, XM_017001521.3:c.430C>T, XM_017001521.2:c.430C>T, XM_017001521.1:c.430C>T, XM_017001519.3:c.430C>T, XM_017001519.2:c.430C>T, XM_017001519.1:c.430C>T, XM_017001520.3:c.430C>T, XM_017001520.2:c.430C>T, XM_017001520.1:c.430C>T, XM_017001525.2:c.430C>T, XM_017001525.1:c.430C>T, NM_001350151.2:c.430C>T, NM_001350151.1:c.430C>T, XM_005245903.2:c.430C>T, XM_005245903.1:c.430C>T, XM_006710705.2:c.430C>T, XM_006710705.1:c.430C>T, XM_005245902.2:c.430C>T, XM_005245902.1:c.430C>T, XM_005245900.2:c.430C>T, XM_005245900.1:c.430C>T, XM_005245901.2:c.430C>T, XM_005245901.1:c.430C>T, XM_017001523.2:c.430C>T, XM_017001523.1:c.430C>T, XM_017001524.2:c.430C>T, XM_017001524.1:c.430C>T, XM_047423104.1:c.430C>T, XM_047423112.1:c.430C>T, XM_047423116.1:c.430C>T, XM_047423128.1:c.430C>T, XM_047423110.1:c.430C>T, XM_047423149.1:c.430C>T, XM_047423133.1:c.430C>T, XM_047423129.1:c.430C>T, XM_047423148.1:c.430C>T, XM_047423151.1:c.430C>T, XM_047423138.1:c.430C>T, XM_047423123.1:c.430C>T, XM_047423158.1:c.430C>T, XM_047423150.1:c.430C>T, XM_047423143.1:c.430C>T, XM_047423141.1:c.430C>T, XM_047423152.1:c.430C>T, XM_047423156.1:c.430C>T, XM_047423162.1:c.430C>T, XM_047423159.1:c.430C>T, XM_047423147.1:c.430C>T, XM_047423172.1:c.430C>T, XM_047423175.1:c.430C>T, XM_047423176.1:c.430C>T, NM_001024215.1:c.430C>T, NP_060026.2:p.Pro144Ser, XP_006710767.1:p.Pro144Ser, XP_011539919.1:p.Pro144Ser, XP_016857015.1:p.Pro144Ser, XP_011539918.1:p.Pro144Ser, XP_016857010.1:p.Pro144Ser, XP_016857008.1:p.Pro144Ser, XP_016857009.1:p.Pro144Ser, XP_016857014.1:p.Pro144Ser, NP_001337080.1:p.Pro144Ser, XP_005245960.1:p.Pro144Ser, XP_006710768.1:p.Pro144Ser, XP_005245959.1:p.Pro144Ser, XP_005245957.1:p.Pro144Ser, XP_005245958.1:p.Pro144Ser, XP_016857012.1:p.Pro144Ser, XP_016857013.1:p.Pro144Ser, XP_047279060.1:p.Pro144Ser, XP_047279068.1:p.Pro144Ser, XP_047279072.1:p.Pro144Ser, XP_047279084.1:p.Pro144Ser, XP_047279066.1:p.Pro144Ser, XP_047279105.1:p.Pro144Ser, XP_047279089.1:p.Pro144Ser, XP_047279085.1:p.Pro144Ser, XP_047279104.1:p.Pro144Ser, XP_047279107.1:p.Pro144Ser, XP_047279094.1:p.Pro144Ser, XP_047279079.1:p.Pro144Ser, XP_047279114.1:p.Pro144Ser, XP_047279106.1:p.Pro144Ser, XP_047279099.1:p.Pro144Ser, XP_047279097.1:p.Pro144Ser, XP_047279108.1:p.Pro144Ser, XP_047279112.1:p.Pro144Ser, XP_047279118.1:p.Pro144Ser, XP_047279115.1:p.Pro144Ser, XP_047279103.1:p.Pro144Ser, XP_047279128.1:p.Pro144Ser, XP_047279131.1:p.Pro144Ser, XP_047279132.1:p.Pro144Ser, NP_001019386.1:p.Pro144Ser

                              15.

                              rs1454344203 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                1:15784552 (GRCh38)
                                1:16111047 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:15784551:G:A,NC_000001.11:15784551:G:T
                                Gene:
                                FBLIM1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.0001/1 (ALFA)
                                HGVS:
                                NC_000001.11:g.15784552G>A, NC_000001.11:g.15784552G>T, NC_000001.10:g.16111047G>A, NC_000001.10:g.16111047G>T, NM_017556.4:c.1013G>A, NM_017556.4:c.1013G>T, NM_017556.3:c.1013G>A, NM_017556.3:c.1013G>T, NM_017556.2:c.1013G>A, NM_017556.2:c.1013G>T, XM_011541617.3:c.1013G>A, XM_011541617.3:c.1013G>T, XM_011541617.2:c.1013G>A, XM_011541617.2:c.1013G>T, XM_011541617.1:c.1013G>A, XM_011541617.1:c.1013G>T, NM_001024216.3:c.722G>A, NM_001024216.3:c.722G>T, NM_001024216.2:c.722G>A, NM_001024216.2:c.722G>T, NM_001024216.1:c.722G>A, NM_001024216.1:c.722G>T, XM_017001525.2:c.1013G>A, XM_017001525.2:c.1013G>T, XM_017001525.1:c.1013G>A, XM_017001525.1:c.1013G>T, NM_001350151.2:c.1013G>A, NM_001350151.2:c.1013G>T, NM_001350151.1:c.1013G>A, NM_001350151.1:c.1013G>T, XM_047423104.1:c.1013G>A, XM_047423104.1:c.1013G>T, XM_047423112.1:c.1013G>A, XM_047423112.1:c.1013G>T, XM_047423116.1:c.1013G>A, XM_047423116.1:c.1013G>T, XM_047423128.1:c.1013G>A, XM_047423128.1:c.1013G>T, XM_047423110.1:c.1013G>A, XM_047423110.1:c.1013G>T, XM_047423149.1:c.895G>A, XM_047423149.1:c.895G>T, XM_047423133.1:c.1013G>A, XM_047423133.1:c.1013G>T, XM_047423129.1:c.1013G>A, XM_047423129.1:c.1013G>T, XM_047423148.1:c.895G>A, XM_047423148.1:c.895G>T, XM_047423151.1:c.895G>A, XM_047423151.1:c.895G>T, XM_047423138.1:c.1013G>A, XM_047423138.1:c.1013G>T, XM_047423123.1:c.1013G>A, XM_047423123.1:c.1013G>T, XM_047423158.1:c.895G>A, XM_047423158.1:c.895G>T, XM_047423150.1:c.895G>A, XM_047423150.1:c.895G>T, XM_047423143.1:c.1013G>A, XM_047423143.1:c.1013G>T, XM_047423141.1:c.1013G>A, XM_047423141.1:c.1013G>T, XM_047423152.1:c.895G>A, XM_047423152.1:c.895G>T, XM_047423156.1:c.895G>A, XM_047423156.1:c.895G>T, NP_060026.2:p.Cys338Tyr, NP_060026.2:p.Cys338Phe, XP_011539919.1:p.Cys338Tyr, XP_011539919.1:p.Cys338Phe, NP_001019387.1:p.Cys241Tyr, NP_001019387.1:p.Cys241Phe, XP_016857014.1:p.Cys338Tyr, XP_016857014.1:p.Cys338Phe, NP_001337080.1:p.Cys338Tyr, NP_001337080.1:p.Cys338Phe, XP_047279060.1:p.Cys338Tyr, XP_047279060.1:p.Cys338Phe, XP_047279068.1:p.Cys338Tyr, XP_047279068.1:p.Cys338Phe, XP_047279072.1:p.Cys338Tyr, XP_047279072.1:p.Cys338Phe, XP_047279084.1:p.Cys338Tyr, XP_047279084.1:p.Cys338Phe, XP_047279066.1:p.Cys338Tyr, XP_047279066.1:p.Cys338Phe, XP_047279105.1:p.Ala299Thr, XP_047279105.1:p.Ala299Ser, XP_047279089.1:p.Cys338Tyr, XP_047279089.1:p.Cys338Phe, XP_047279085.1:p.Cys338Tyr, XP_047279085.1:p.Cys338Phe, XP_047279104.1:p.Ala299Thr, XP_047279104.1:p.Ala299Ser, XP_047279107.1:p.Ala299Thr, XP_047279107.1:p.Ala299Ser, XP_047279094.1:p.Cys338Tyr, XP_047279094.1:p.Cys338Phe, XP_047279079.1:p.Cys338Tyr, XP_047279079.1:p.Cys338Phe, XP_047279114.1:p.Ala299Thr, XP_047279114.1:p.Ala299Ser, XP_047279106.1:p.Ala299Thr, XP_047279106.1:p.Ala299Ser, XP_047279099.1:p.Cys338Tyr, XP_047279099.1:p.Cys338Phe, XP_047279097.1:p.Cys338Tyr, XP_047279097.1:p.Cys338Phe, XP_047279108.1:p.Ala299Thr, XP_047279108.1:p.Ala299Ser, XP_047279112.1:p.Ala299Thr, XP_047279112.1:p.Ala299Ser

                                16.

                                rs1451365854 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:15784609 (GRCh38)
                                  1:16111104 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:15784608:A:G
                                  Gene:
                                  FBLIM1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.15784609A>G, NC_000001.10:g.16111104A>G, NM_017556.4:c.1070A>G, NM_017556.3:c.1070A>G, NM_017556.2:c.1070A>G, XM_011541617.3:c.1070A>G, XM_011541617.2:c.1070A>G, XM_011541617.1:c.1070A>G, NM_001024216.3:c.779A>G, NM_001024216.2:c.779A>G, NM_001024216.1:c.779A>G, XM_017001525.2:c.1070A>G, XM_017001525.1:c.1070A>G, NM_001350151.2:c.1070A>G, NM_001350151.1:c.1070A>G, XM_047423104.1:c.1070A>G, XM_047423112.1:c.1070A>G, XM_047423116.1:c.1070A>G, XM_047423128.1:c.1070A>G, XM_047423110.1:c.1070A>G, XM_047423149.1:c.*7A>G, XM_047423133.1:c.1070A>G, XM_047423129.1:c.1070A>G, XM_047423148.1:c.*7A>G, XM_047423151.1:c.*7A>G, XM_047423138.1:c.1070A>G, XM_047423123.1:c.1070A>G, XM_047423158.1:c.*7A>G, XM_047423150.1:c.*7A>G, XM_047423143.1:c.1070A>G, XM_047423141.1:c.1070A>G, XM_047423152.1:c.*7A>G, XM_047423156.1:c.*7A>G, NP_060026.2:p.His357Arg, XP_011539919.1:p.His357Arg, NP_001019387.1:p.His260Arg, XP_016857014.1:p.His357Arg, NP_001337080.1:p.His357Arg, XP_047279060.1:p.His357Arg, XP_047279068.1:p.His357Arg, XP_047279072.1:p.His357Arg, XP_047279084.1:p.His357Arg, XP_047279066.1:p.His357Arg, XP_047279089.1:p.His357Arg, XP_047279085.1:p.His357Arg, XP_047279094.1:p.His357Arg, XP_047279079.1:p.His357Arg, XP_047279099.1:p.His357Arg, XP_047279097.1:p.His357Arg

                                  17.

                                  rs1450412512 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:15767560 (GRCh38)
                                    1:16094055 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:15767559:A:C
                                    Gene:
                                    FBLIM1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.00177/10 (ALFA)
                                    C=0.00167/47 (TOMMO)
                                    C=0.00375/24 (1000Genomes)
                                    C=0.05816/166 (KOREAN)
                                    HGVS:
                                    NC_000001.11:g.15767560A>C, NC_000001.10:g.16094055A>C, NM_017556.4:c.435A>C, NM_017556.3:c.435A>C, NM_017556.2:c.435A>C, XM_006710704.4:c.435A>C, XM_006710704.3:c.435A>C, XM_006710704.2:c.435A>C, XM_006710704.1:c.435A>C, XM_011541617.3:c.435A>C, XM_011541617.2:c.435A>C, XM_011541617.1:c.435A>C, XM_017001526.3:c.435A>C, XM_017001526.2:c.435A>C, XM_017001526.1:c.435A>C, XM_011541616.3:c.435A>C, XM_011541616.2:c.435A>C, XM_011541616.1:c.435A>C, XM_017001521.3:c.435A>C, XM_017001521.2:c.435A>C, XM_017001521.1:c.435A>C, XM_017001519.3:c.435A>C, XM_017001519.2:c.435A>C, XM_017001519.1:c.435A>C, XM_017001520.3:c.435A>C, XM_017001520.2:c.435A>C, XM_017001520.1:c.435A>C, XM_017001525.2:c.435A>C, XM_017001525.1:c.435A>C, NM_001350151.2:c.435A>C, NM_001350151.1:c.435A>C, XM_005245903.2:c.435A>C, XM_005245903.1:c.435A>C, XM_006710705.2:c.435A>C, XM_006710705.1:c.435A>C, XM_005245902.2:c.435A>C, XM_005245902.1:c.435A>C, XM_005245900.2:c.435A>C, XM_005245900.1:c.435A>C, XM_005245901.2:c.435A>C, XM_005245901.1:c.435A>C, XM_017001523.2:c.435A>C, XM_017001523.1:c.435A>C, XM_017001524.2:c.435A>C, XM_017001524.1:c.435A>C, XM_047423104.1:c.435A>C, XM_047423112.1:c.435A>C, XM_047423116.1:c.435A>C, XM_047423128.1:c.435A>C, XM_047423110.1:c.435A>C, XM_047423149.1:c.435A>C, XM_047423133.1:c.435A>C, XM_047423129.1:c.435A>C, XM_047423148.1:c.435A>C, XM_047423151.1:c.435A>C, XM_047423138.1:c.435A>C, XM_047423123.1:c.435A>C, XM_047423158.1:c.435A>C, XM_047423150.1:c.435A>C, XM_047423143.1:c.435A>C, XM_047423141.1:c.435A>C, XM_047423152.1:c.435A>C, XM_047423156.1:c.435A>C, XM_047423162.1:c.435A>C, XM_047423159.1:c.435A>C, XM_047423147.1:c.435A>C, XM_047423172.1:c.435A>C, XM_047423175.1:c.435A>C, XM_047423176.1:c.435A>C, NM_001024215.1:c.435A>C

                                    18.

                                    rs1449950175 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:15774712 (GRCh38)
                                      1:16101207 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:15774711:G:A
                                      Gene:
                                      FBLIM1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.15774712G>A, NC_000001.10:g.16101207G>A, NM_017556.4:c.806G>A, NM_017556.3:c.806G>A, NM_017556.2:c.806G>A, XM_006710704.4:c.806G>A, XM_006710704.3:c.806G>A, XM_006710704.2:c.806G>A, XM_006710704.1:c.806G>A, XM_011541617.3:c.806G>A, XM_011541617.2:c.806G>A, XM_011541617.1:c.806G>A, NM_001024216.3:c.515G>A, NM_001024216.2:c.515G>A, NM_001024216.1:c.515G>A, XM_017001526.3:c.806G>A, XM_017001526.2:c.806G>A, XM_017001526.1:c.806G>A, XM_011541616.3:c.806G>A, XM_011541616.2:c.806G>A, XM_011541616.1:c.806G>A, XM_017001521.3:c.806G>A, XM_017001521.2:c.806G>A, XM_017001521.1:c.806G>A, XM_017001519.3:c.806G>A, XM_017001519.2:c.806G>A, XM_017001519.1:c.806G>A, XM_017001520.3:c.806G>A, XM_017001520.2:c.806G>A, XM_017001520.1:c.806G>A, XM_017001525.2:c.806G>A, XM_017001525.1:c.806G>A, NM_001350151.2:c.806G>A, NM_001350151.1:c.806G>A, XM_005245903.2:c.806G>A, XM_005245903.1:c.806G>A, XM_006710705.2:c.806G>A, XM_006710705.1:c.806G>A, XM_005245902.2:c.806G>A, XM_005245902.1:c.806G>A, XM_005245900.2:c.806G>A, XM_005245900.1:c.806G>A, XM_005245901.2:c.806G>A, XM_005245901.1:c.806G>A, XM_017001523.2:c.806G>A, XM_017001523.1:c.806G>A, XM_017001524.2:c.806G>A, XM_017001524.1:c.806G>A, XM_047423104.1:c.806G>A, XM_047423112.1:c.806G>A, XM_047423116.1:c.806G>A, XM_047423128.1:c.806G>A, XM_047423110.1:c.806G>A, XM_047423149.1:c.806G>A, XM_047423133.1:c.806G>A, XM_047423129.1:c.806G>A, XM_047423148.1:c.806G>A, XM_047423151.1:c.806G>A, XM_047423138.1:c.806G>A, XM_047423123.1:c.806G>A, XM_047423158.1:c.806G>A, XM_047423150.1:c.806G>A, XM_047423143.1:c.806G>A, XM_047423141.1:c.806G>A, XM_047423152.1:c.806G>A, XM_047423156.1:c.806G>A, XM_047423162.1:c.806G>A, XM_047423159.1:c.806G>A, XM_047423147.1:c.806G>A, XM_047423172.1:c.806G>A, XM_047423175.1:c.806G>A, XM_047423176.1:c.806G>A, NM_001024215.1:c.806G>A, NP_060026.2:p.Cys269Tyr, XP_006710767.1:p.Cys269Tyr, XP_011539919.1:p.Cys269Tyr, NP_001019387.1:p.Cys172Tyr, XP_016857015.1:p.Cys269Tyr, XP_011539918.1:p.Cys269Tyr, XP_016857010.1:p.Cys269Tyr, XP_016857008.1:p.Cys269Tyr, XP_016857009.1:p.Cys269Tyr, XP_016857014.1:p.Cys269Tyr, NP_001337080.1:p.Cys269Tyr, XP_005245960.1:p.Cys269Tyr, XP_006710768.1:p.Cys269Tyr, XP_005245959.1:p.Cys269Tyr, XP_005245957.1:p.Cys269Tyr, XP_005245958.1:p.Cys269Tyr, XP_016857012.1:p.Cys269Tyr, XP_016857013.1:p.Cys269Tyr, XP_047279060.1:p.Cys269Tyr, XP_047279068.1:p.Cys269Tyr, XP_047279072.1:p.Cys269Tyr, XP_047279084.1:p.Cys269Tyr, XP_047279066.1:p.Cys269Tyr, XP_047279105.1:p.Cys269Tyr, XP_047279089.1:p.Cys269Tyr, XP_047279085.1:p.Cys269Tyr, XP_047279104.1:p.Cys269Tyr, XP_047279107.1:p.Cys269Tyr, XP_047279094.1:p.Cys269Tyr, XP_047279079.1:p.Cys269Tyr, XP_047279114.1:p.Cys269Tyr, XP_047279106.1:p.Cys269Tyr, XP_047279099.1:p.Cys269Tyr, XP_047279097.1:p.Cys269Tyr, XP_047279108.1:p.Cys269Tyr, XP_047279112.1:p.Cys269Tyr, XP_047279118.1:p.Cys269Tyr, XP_047279115.1:p.Cys269Tyr, XP_047279103.1:p.Cys269Tyr, XP_047279128.1:p.Cys269Tyr, XP_047279131.1:p.Cys269Tyr, XP_047279132.1:p.Cys269Tyr, NP_001019386.1:p.Cys269Tyr

                                      19.

                                      rs1445260569 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        1:15768610 (GRCh38)
                                        1:16095105 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:15768609:T:A
                                        Gene:
                                        FBLIM1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.15768610T>A, NC_000001.10:g.16095105T>A, NM_017556.4:c.521T>A, NM_017556.3:c.521T>A, NM_017556.2:c.521T>A, XM_006710704.4:c.521T>A, XM_006710704.3:c.521T>A, XM_006710704.2:c.521T>A, XM_006710704.1:c.521T>A, XM_011541617.3:c.521T>A, XM_011541617.2:c.521T>A, XM_011541617.1:c.521T>A, XM_017001526.3:c.521T>A, XM_017001526.2:c.521T>A, XM_017001526.1:c.521T>A, XM_011541616.3:c.521T>A, XM_011541616.2:c.521T>A, XM_011541616.1:c.521T>A, XM_017001521.3:c.521T>A, XM_017001521.2:c.521T>A, XM_017001521.1:c.521T>A, XM_017001519.3:c.521T>A, XM_017001519.2:c.521T>A, XM_017001519.1:c.521T>A, XM_017001520.3:c.521T>A, XM_017001520.2:c.521T>A, XM_017001520.1:c.521T>A, XM_017001525.2:c.521T>A, XM_017001525.1:c.521T>A, NM_001350151.2:c.521T>A, NM_001350151.1:c.521T>A, XM_005245903.2:c.521T>A, XM_005245903.1:c.521T>A, XM_006710705.2:c.521T>A, XM_006710705.1:c.521T>A, XM_005245902.2:c.521T>A, XM_005245902.1:c.521T>A, XM_005245900.2:c.521T>A, XM_005245900.1:c.521T>A, XM_005245901.2:c.521T>A, XM_005245901.1:c.521T>A, XM_017001523.2:c.521T>A, XM_017001523.1:c.521T>A, XM_017001524.2:c.521T>A, XM_017001524.1:c.521T>A, XM_047423104.1:c.521T>A, XM_047423112.1:c.521T>A, XM_047423116.1:c.521T>A, XM_047423128.1:c.521T>A, XM_047423110.1:c.521T>A, XM_047423149.1:c.521T>A, XM_047423133.1:c.521T>A, XM_047423129.1:c.521T>A, XM_047423148.1:c.521T>A, XM_047423151.1:c.521T>A, XM_047423138.1:c.521T>A, XM_047423123.1:c.521T>A, XM_047423158.1:c.521T>A, XM_047423150.1:c.521T>A, XM_047423143.1:c.521T>A, XM_047423141.1:c.521T>A, XM_047423152.1:c.521T>A, XM_047423156.1:c.521T>A, XM_047423162.1:c.521T>A, XM_047423159.1:c.521T>A, XM_047423147.1:c.521T>A, XM_047423172.1:c.521T>A, XM_047423175.1:c.521T>A, XM_047423176.1:c.521T>A, NM_001024215.1:c.521T>A, NP_060026.2:p.Val174Asp, XP_006710767.1:p.Val174Asp, XP_011539919.1:p.Val174Asp, XP_016857015.1:p.Val174Asp, XP_011539918.1:p.Val174Asp, XP_016857010.1:p.Val174Asp, XP_016857008.1:p.Val174Asp, XP_016857009.1:p.Val174Asp, XP_016857014.1:p.Val174Asp, NP_001337080.1:p.Val174Asp, XP_005245960.1:p.Val174Asp, XP_006710768.1:p.Val174Asp, XP_005245959.1:p.Val174Asp, XP_005245957.1:p.Val174Asp, XP_005245958.1:p.Val174Asp, XP_016857012.1:p.Val174Asp, XP_016857013.1:p.Val174Asp, XP_047279060.1:p.Val174Asp, XP_047279068.1:p.Val174Asp, XP_047279072.1:p.Val174Asp, XP_047279084.1:p.Val174Asp, XP_047279066.1:p.Val174Asp, XP_047279105.1:p.Val174Asp, XP_047279089.1:p.Val174Asp, XP_047279085.1:p.Val174Asp, XP_047279104.1:p.Val174Asp, XP_047279107.1:p.Val174Asp, XP_047279094.1:p.Val174Asp, XP_047279079.1:p.Val174Asp, XP_047279114.1:p.Val174Asp, XP_047279106.1:p.Val174Asp, XP_047279099.1:p.Val174Asp, XP_047279097.1:p.Val174Asp, XP_047279108.1:p.Val174Asp, XP_047279112.1:p.Val174Asp, XP_047279118.1:p.Val174Asp, XP_047279115.1:p.Val174Asp, XP_047279103.1:p.Val174Asp, XP_047279128.1:p.Val174Asp, XP_047279131.1:p.Val174Asp, XP_047279132.1:p.Val174Asp, NP_001019386.1:p.Val174Asp

                                        20.

                                        rs1440716778 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          1:15774716 (GRCh38)
                                          1:16101212 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:15774716:A:AA
                                          Gene:
                                          FBLIM1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.15774717dup, NC_000001.10:g.16101212dup, NM_017556.4:c.811dup, NM_017556.3:c.811dup, NM_017556.2:c.811dup, XM_006710704.4:c.811dup, XM_006710704.3:c.811dup, XM_006710704.2:c.811dup, XM_006710704.1:c.811dup, XM_011541617.3:c.811dup, XM_011541617.2:c.811dup, XM_011541617.1:c.811dup, NM_001024216.3:c.520dup, NM_001024216.2:c.520dup, NM_001024216.1:c.520dup, XM_017001526.3:c.811dup, XM_017001526.2:c.811dup, XM_017001526.1:c.811dup, XM_011541616.3:c.811dup, XM_011541616.2:c.811dup, XM_011541616.1:c.811dup, XM_017001521.3:c.811dup, XM_017001521.2:c.811dup, XM_017001521.1:c.811dup, XM_017001519.3:c.811dup, XM_017001519.2:c.811dup, XM_017001519.1:c.811dup, XM_017001520.3:c.811dup, XM_017001520.2:c.811dup, XM_017001520.1:c.811dup, XM_017001525.2:c.811dup, XM_017001525.1:c.811dup, NM_001350151.2:c.811dup, NM_001350151.1:c.811dup, XM_005245903.2:c.811dup, XM_005245903.1:c.811dup, XM_006710705.2:c.811dup, XM_006710705.1:c.811dup, XM_005245902.2:c.811dup, XM_005245902.1:c.811dup, XM_005245900.2:c.811dup, XM_005245900.1:c.811dup, XM_005245901.2:c.811dup, XM_005245901.1:c.811dup, XM_017001523.2:c.811dup, XM_017001523.1:c.811dup, XM_017001524.2:c.811dup, XM_017001524.1:c.811dup, XM_047423104.1:c.811dup, XM_047423112.1:c.811dup, XM_047423116.1:c.811dup, XM_047423128.1:c.811dup, XM_047423110.1:c.811dup, XM_047423149.1:c.811dup, XM_047423133.1:c.811dup, XM_047423129.1:c.811dup, XM_047423148.1:c.811dup, XM_047423151.1:c.811dup, XM_047423138.1:c.811dup, XM_047423123.1:c.811dup, XM_047423158.1:c.811dup, XM_047423150.1:c.811dup, XM_047423143.1:c.811dup, XM_047423141.1:c.811dup, XM_047423152.1:c.811dup, XM_047423156.1:c.811dup, XM_047423162.1:c.811dup, XM_047423159.1:c.811dup, XM_047423147.1:c.811dup, XM_047423172.1:c.811dup, XM_047423175.1:c.811dup, XM_047423176.1:c.811dup, NM_001024215.1:c.811dup, NP_060026.2:p.Thr271fs, XP_006710767.1:p.Thr271fs, XP_011539919.1:p.Thr271fs, NP_001019387.1:p.Thr174fs, XP_016857015.1:p.Thr271fs, XP_011539918.1:p.Thr271fs, XP_016857010.1:p.Thr271fs, XP_016857008.1:p.Thr271fs, XP_016857009.1:p.Thr271fs, XP_016857014.1:p.Thr271fs, NP_001337080.1:p.Thr271fs, XP_005245960.1:p.Thr271fs, XP_006710768.1:p.Thr271fs, XP_005245959.1:p.Thr271fs, XP_005245957.1:p.Thr271fs, XP_005245958.1:p.Thr271fs, XP_016857012.1:p.Thr271fs, XP_016857013.1:p.Thr271fs, XP_047279060.1:p.Thr271fs, XP_047279068.1:p.Thr271fs, XP_047279072.1:p.Thr271fs, XP_047279084.1:p.Thr271fs, XP_047279066.1:p.Thr271fs, XP_047279105.1:p.Thr271fs, XP_047279089.1:p.Thr271fs, XP_047279085.1:p.Thr271fs, XP_047279104.1:p.Thr271fs, XP_047279107.1:p.Thr271fs, XP_047279094.1:p.Thr271fs, XP_047279079.1:p.Thr271fs, XP_047279114.1:p.Thr271fs, XP_047279106.1:p.Thr271fs, XP_047279099.1:p.Thr271fs, XP_047279097.1:p.Thr271fs, XP_047279108.1:p.Thr271fs, XP_047279112.1:p.Thr271fs, XP_047279118.1:p.Thr271fs, XP_047279115.1:p.Thr271fs, XP_047279103.1:p.Thr271fs, XP_047279128.1:p.Thr271fs, XP_047279131.1:p.Thr271fs, XP_047279132.1:p.Thr271fs, NP_001019386.1:p.Thr271fs

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