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Items: 1 to 20 of 1000

1.

rs1490718102 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:64062834 (GRCh38)
    14:64529552 (GRCh37)
    Canonical SPDI:
    NC_000014.9:64062833:A:G
    Gene:
    SYNE2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000014.9:g.64062834A>G, NC_000014.8:g.64529552A>G, NG_011756.2:g.305936A>G, NM_015180.6:c.10151A>G, NM_015180.5:c.10151A>G, NM_015180.4:c.10151A>G, NM_182914.3:c.10151A>G, NM_182914.2:c.10151A>G, XM_011536576.3:c.10151A>G, XM_011536576.2:c.10151A>G, XM_011536576.1:c.10151A>G, XM_011536575.3:c.10151A>G, XM_011536575.2:c.10151A>G, XM_011536575.1:c.10151A>G, XM_011536580.3:c.10151A>G, XM_011536580.2:c.10151A>G, XM_011536580.1:c.10151A>G, XM_011536577.3:c.10151A>G, XM_011536577.2:c.10151A>G, XM_011536577.1:c.10151A>G, XM_011536584.3:c.10151A>G, XM_011536584.2:c.10151A>G, XM_011536584.1:c.10151A>G, XM_017021101.2:c.10151A>G, XM_017021101.1:c.10151A>G, XM_011536574.2:c.10151A>G, XM_011536574.1:c.10151A>G, XM_011536578.2:c.10151A>G, XM_011536578.1:c.10151A>G, XM_011536579.2:c.10151A>G, XM_011536579.1:c.10151A>G, XM_005267454.2:c.10151A>G, XM_005267454.1:c.10151A>G, XM_005267456.2:c.10151A>G, XM_005267456.1:c.10151A>G, XM_011536581.2:c.10151A>G, XM_011536581.1:c.10151A>G, XM_005267457.2:c.10151A>G, XM_005267457.1:c.10151A>G, XM_005267458.2:c.10151A>G, XM_005267458.1:c.10151A>G, XM_011536582.2:c.10151A>G, XM_011536582.1:c.10151A>G, XM_005267459.2:c.10151A>G, XM_005267459.1:c.10151A>G, XM_047431152.1:c.10151A>G, XM_047431149.1:c.10151A>G, XM_047431151.1:c.10151A>G, XM_047431153.1:c.10151A>G, XM_047431150.1:c.10151A>G, XM_047431154.1:c.10151A>G, XM_047431156.1:c.10151A>G, XM_047431155.1:c.10151A>G, XM_047431157.1:c.10151A>G, XM_047431158.1:c.10151A>G, XM_047431159.1:c.10151A>G, NP_055995.4:p.Gln3384Arg, NP_878918.2:p.Gln3384Arg, XP_011534878.1:p.Gln3384Arg, XP_011534877.1:p.Gln3384Arg, XP_011534882.1:p.Gln3384Arg, XP_011534879.1:p.Gln3384Arg, XP_011534886.1:p.Gln3384Arg, XP_016876590.1:p.Gln3384Arg, XP_011534876.1:p.Gln3384Arg, XP_011534880.1:p.Gln3384Arg, XP_011534881.1:p.Gln3384Arg, XP_005267511.1:p.Gln3384Arg, XP_005267513.1:p.Gln3384Arg, XP_011534883.1:p.Gln3384Arg, XP_005267514.1:p.Gln3384Arg, XP_005267515.1:p.Gln3384Arg, XP_011534884.1:p.Gln3384Arg, XP_005267516.1:p.Gln3384Arg, XP_047287108.1:p.Gln3384Arg, XP_047287105.1:p.Gln3384Arg, XP_047287107.1:p.Gln3384Arg, XP_047287109.1:p.Gln3384Arg, XP_047287106.1:p.Gln3384Arg, XP_047287110.1:p.Gln3384Arg, XP_047287112.1:p.Gln3384Arg, XP_047287111.1:p.Gln3384Arg, XP_047287113.1:p.Gln3384Arg, XP_047287114.1:p.Gln3384Arg, XP_047287115.1:p.Gln3384Arg

    2.

    rs1490651621 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      14:64024457 (GRCh38)
      14:64491175 (GRCh37)
      Canonical SPDI:
      NC_000014.9:64024456:G:C
      Gene:
      SYNE2 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      NC_000014.9:g.64024457G>C, NC_000014.8:g.64491175G>C, NG_011756.2:g.267559G>C, NM_015180.6:c.5838G>C, NM_015180.5:c.5838G>C, NM_015180.4:c.5838G>C, NM_182914.3:c.5838G>C, NM_182914.2:c.5838G>C, XM_011536576.3:c.5838G>C, XM_011536576.2:c.5838G>C, XM_011536576.1:c.5838G>C, XM_011536575.3:c.5838G>C, XM_011536575.2:c.5838G>C, XM_011536575.1:c.5838G>C, XM_011536580.3:c.5838G>C, XM_011536580.2:c.5838G>C, XM_011536580.1:c.5838G>C, XM_011536577.3:c.5838G>C, XM_011536577.2:c.5838G>C, XM_011536577.1:c.5838G>C, XM_011536584.3:c.5838G>C, XM_011536584.2:c.5838G>C, XM_011536584.1:c.5838G>C, XM_017021101.2:c.5838G>C, XM_017021101.1:c.5838G>C, XM_011536574.2:c.5838G>C, XM_011536574.1:c.5838G>C, XM_011536578.2:c.5838G>C, XM_011536578.1:c.5838G>C, XM_011536579.2:c.5838G>C, XM_011536579.1:c.5838G>C, XM_005267454.2:c.5838G>C, XM_005267454.1:c.5838G>C, XM_005267456.2:c.5838G>C, XM_005267456.1:c.5838G>C, XM_011536581.2:c.5838G>C, XM_011536581.1:c.5838G>C, XM_005267457.2:c.5838G>C, XM_005267457.1:c.5838G>C, XM_005267458.2:c.5838G>C, XM_005267458.1:c.5838G>C, XM_011536582.2:c.5838G>C, XM_011536582.1:c.5838G>C, XM_005267459.2:c.5838G>C, XM_005267459.1:c.5838G>C, XM_047431152.1:c.5838G>C, XM_047431149.1:c.5838G>C, XM_047431151.1:c.5838G>C, XM_047431153.1:c.5838G>C, XM_047431150.1:c.5838G>C, XM_047431154.1:c.5838G>C, XM_047431156.1:c.5838G>C, XM_047431155.1:c.5838G>C, XM_047431157.1:c.5838G>C, XM_047431158.1:c.5838G>C, XM_047431159.1:c.5838G>C

      3.

      rs1490486139 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        14:63977987 (GRCh38)
        14:64444705 (GRCh37)
        Canonical SPDI:
        NC_000014.9:63977986:C:A
        Gene:
        SYNE2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.63977987C>A, NC_000014.8:g.64444705C>A, NG_011756.2:g.221089C>A, NM_015180.6:c.1376C>A, NM_015180.5:c.1376C>A, NM_015180.4:c.1376C>A, NM_182914.3:c.1376C>A, NM_182914.2:c.1376C>A, XM_011536576.3:c.1376C>A, XM_011536576.2:c.1376C>A, XM_011536576.1:c.1376C>A, XM_011536575.3:c.1376C>A, XM_011536575.2:c.1376C>A, XM_011536575.1:c.1376C>A, XM_011536580.3:c.1376C>A, XM_011536580.2:c.1376C>A, XM_011536580.1:c.1376C>A, XM_011536577.3:c.1376C>A, XM_011536577.2:c.1376C>A, XM_011536577.1:c.1376C>A, XM_011536584.3:c.1376C>A, XM_011536584.2:c.1376C>A, XM_011536584.1:c.1376C>A, XM_017021101.2:c.1376C>A, XM_017021101.1:c.1376C>A, XM_011536574.2:c.1376C>A, XM_011536574.1:c.1376C>A, XM_011536578.2:c.1376C>A, XM_011536578.1:c.1376C>A, XM_011536579.2:c.1376C>A, XM_011536579.1:c.1376C>A, XM_005267454.2:c.1376C>A, XM_005267454.1:c.1376C>A, XM_005267456.2:c.1376C>A, XM_005267456.1:c.1376C>A, XM_011536581.2:c.1376C>A, XM_011536581.1:c.1376C>A, XM_005267457.2:c.1376C>A, XM_005267457.1:c.1376C>A, XM_005267458.2:c.1376C>A, XM_005267458.1:c.1376C>A, XM_011536582.2:c.1376C>A, XM_011536582.1:c.1376C>A, XM_005267459.2:c.1376C>A, XM_005267459.1:c.1376C>A, XM_047431152.1:c.1376C>A, XM_047431149.1:c.1376C>A, XM_047431151.1:c.1376C>A, XM_047431153.1:c.1376C>A, XM_047431150.1:c.1376C>A, XM_047431154.1:c.1376C>A, XM_047431156.1:c.1376C>A, XM_047431155.1:c.1376C>A, XM_047431157.1:c.1376C>A, XM_047431158.1:c.1376C>A, XM_047431159.1:c.1376C>A, NP_055995.4:p.Pro459Gln, NP_878918.2:p.Pro459Gln, XP_011534878.1:p.Pro459Gln, XP_011534877.1:p.Pro459Gln, XP_011534882.1:p.Pro459Gln, XP_011534879.1:p.Pro459Gln, XP_011534886.1:p.Pro459Gln, XP_016876590.1:p.Pro459Gln, XP_011534876.1:p.Pro459Gln, XP_011534880.1:p.Pro459Gln, XP_011534881.1:p.Pro459Gln, XP_005267511.1:p.Pro459Gln, XP_005267513.1:p.Pro459Gln, XP_011534883.1:p.Pro459Gln, XP_005267514.1:p.Pro459Gln, XP_005267515.1:p.Pro459Gln, XP_011534884.1:p.Pro459Gln, XP_005267516.1:p.Pro459Gln, XP_047287108.1:p.Pro459Gln, XP_047287105.1:p.Pro459Gln, XP_047287107.1:p.Pro459Gln, XP_047287109.1:p.Pro459Gln, XP_047287106.1:p.Pro459Gln, XP_047287110.1:p.Pro459Gln, XP_047287112.1:p.Pro459Gln, XP_047287111.1:p.Pro459Gln, XP_047287113.1:p.Pro459Gln, XP_047287114.1:p.Pro459Gln, XP_047287115.1:p.Pro459Gln

        4.

        rs1490440041 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          14:63963989 (GRCh38)
          14:64430707 (GRCh37)
          Canonical SPDI:
          NC_000014.9:63963988:A:G
          Gene:
          SYNE2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000014.9:g.63963989A>G, NC_000014.8:g.64430707A>G, NG_011756.2:g.207091A>G, NM_015180.6:c.979A>G, NM_015180.5:c.979A>G, NM_015180.4:c.979A>G, NM_182914.3:c.979A>G, NM_182914.2:c.979A>G, XM_011536576.3:c.979A>G, XM_011536576.2:c.979A>G, XM_011536576.1:c.979A>G, XM_011536575.3:c.979A>G, XM_011536575.2:c.979A>G, XM_011536575.1:c.979A>G, XM_011536580.3:c.979A>G, XM_011536580.2:c.979A>G, XM_011536580.1:c.979A>G, XM_011536577.3:c.979A>G, XM_011536577.2:c.979A>G, XM_011536577.1:c.979A>G, XM_011536584.3:c.979A>G, XM_011536584.2:c.979A>G, XM_011536584.1:c.979A>G, XM_017021101.2:c.979A>G, XM_017021101.1:c.979A>G, XM_011536574.2:c.979A>G, XM_011536574.1:c.979A>G, XM_011536578.2:c.979A>G, XM_011536578.1:c.979A>G, XM_011536579.2:c.979A>G, XM_011536579.1:c.979A>G, XM_005267454.2:c.979A>G, XM_005267454.1:c.979A>G, XM_005267456.2:c.979A>G, XM_005267456.1:c.979A>G, XM_011536581.2:c.979A>G, XM_011536581.1:c.979A>G, XM_005267457.2:c.979A>G, XM_005267457.1:c.979A>G, XM_005267458.2:c.979A>G, XM_005267458.1:c.979A>G, XM_011536582.2:c.979A>G, XM_011536582.1:c.979A>G, XM_005267459.2:c.979A>G, XM_005267459.1:c.979A>G, XM_047431152.1:c.979A>G, XM_047431149.1:c.979A>G, XM_047431151.1:c.979A>G, XM_047431153.1:c.979A>G, XM_047431150.1:c.979A>G, XM_047431154.1:c.979A>G, XM_047431156.1:c.979A>G, XM_047431155.1:c.979A>G, XM_047431157.1:c.979A>G, XM_047431158.1:c.979A>G, XM_047431159.1:c.979A>G, NP_055995.4:p.Lys327Glu, NP_878918.2:p.Lys327Glu, XP_011534878.1:p.Lys327Glu, XP_011534877.1:p.Lys327Glu, XP_011534882.1:p.Lys327Glu, XP_011534879.1:p.Lys327Glu, XP_011534886.1:p.Lys327Glu, XP_016876590.1:p.Lys327Glu, XP_011534876.1:p.Lys327Glu, XP_011534880.1:p.Lys327Glu, XP_011534881.1:p.Lys327Glu, XP_005267511.1:p.Lys327Glu, XP_005267513.1:p.Lys327Glu, XP_011534883.1:p.Lys327Glu, XP_005267514.1:p.Lys327Glu, XP_005267515.1:p.Lys327Glu, XP_011534884.1:p.Lys327Glu, XP_005267516.1:p.Lys327Glu, XP_047287108.1:p.Lys327Glu, XP_047287105.1:p.Lys327Glu, XP_047287107.1:p.Lys327Glu, XP_047287109.1:p.Lys327Glu, XP_047287106.1:p.Lys327Glu, XP_047287110.1:p.Lys327Glu, XP_047287112.1:p.Lys327Glu, XP_047287111.1:p.Lys327Glu, XP_047287113.1:p.Lys327Glu, XP_047287114.1:p.Lys327Glu, XP_047287115.1:p.Lys327Glu

          5.

          rs1490325276 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:64167588 (GRCh38)
            14:64634306 (GRCh37)
            Canonical SPDI:
            NC_000014.9:64167587:G:A
            Gene:
            SYNE2 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
            Clinical significance:
            conflicting-interpretations-of-pathogenicity
            Validated:
            by frequency
            MAF:
            A=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.64167588G>A, NC_000014.8:g.64634306G>A, NG_011756.2:g.410690G>A, NM_015180.6:c.16854G>A, NM_015180.5:c.16854G>A, NM_015180.4:c.16854G>A, NM_182914.3:c.16854G>A, NM_182914.2:c.16854G>A, XM_011536576.3:c.16854G>A, XM_011536576.2:c.16854G>A, XM_011536576.1:c.16854G>A, XM_011536575.3:c.16854G>A, XM_011536575.2:c.16854G>A, XM_011536575.1:c.16854G>A, XM_011536580.3:c.16854G>A, XM_011536580.2:c.16854G>A, XM_011536580.1:c.16854G>A, XM_011536577.3:c.16854G>A, XM_011536577.2:c.16854G>A, XM_011536577.1:c.16854G>A, XM_017021101.2:c.16854G>A, XM_017021101.1:c.16854G>A, XM_011536574.2:c.16854G>A, XM_011536574.1:c.16854G>A, XM_011536578.2:c.16854G>A, XM_011536578.1:c.16854G>A, XM_011536579.2:c.16854G>A, XM_011536579.1:c.16854G>A, XM_005267454.2:c.16854G>A, XM_005267454.1:c.16854G>A, XM_005267456.2:c.16854G>A, XM_005267456.1:c.16854G>A, XM_011536581.2:c.16854G>A, XM_011536581.1:c.16854G>A, XM_005267457.2:c.16854G>A, XM_005267457.1:c.16854G>A, XM_005267458.2:c.16854G>A, XM_005267458.1:c.16854G>A, XM_011536582.2:c.16737G>A, XM_011536582.1:c.16737G>A, XM_005267459.2:c.16854G>A, XM_005267459.1:c.16854G>A, XM_047431152.1:c.16854G>A, XM_047431149.1:c.16854G>A, XM_047431151.1:c.16854G>A, XM_047431153.1:c.16854G>A, XM_047431150.1:c.16854G>A, XM_047431154.1:c.16854G>A, XM_047431156.1:c.16854G>A, XM_047431155.1:c.16854G>A, XM_047431157.1:c.16737G>A, XM_047431158.1:c.16737G>A, XM_047431160.1:c.4530G>A

            6.

            rs1490218328 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              14:64163503 (GRCh38)
              14:64630221 (GRCh37)
              Canonical SPDI:
              NC_000014.9:64163502:C:G
              Gene:
              SYNE2 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000047/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000014.9:g.64163503C>G, NC_000014.8:g.64630221C>G, NG_011756.2:g.406605C>G, NM_015180.6:c.16401C>G, NM_015180.5:c.16401C>G, NM_015180.4:c.16401C>G, NM_182914.3:c.16401C>G, NM_182914.2:c.16401C>G, XM_011536576.3:c.16401C>G, XM_011536576.2:c.16401C>G, XM_011536576.1:c.16401C>G, XM_011536575.3:c.16401C>G, XM_011536575.2:c.16401C>G, XM_011536575.1:c.16401C>G, XM_011536580.3:c.16401C>G, XM_011536580.2:c.16401C>G, XM_011536580.1:c.16401C>G, XM_011536577.3:c.16401C>G, XM_011536577.2:c.16401C>G, XM_011536577.1:c.16401C>G, XM_017021101.2:c.16401C>G, XM_017021101.1:c.16401C>G, XM_011536574.2:c.16401C>G, XM_011536574.1:c.16401C>G, XM_011536578.2:c.16401C>G, XM_011536578.1:c.16401C>G, XM_011536579.2:c.16401C>G, XM_011536579.1:c.16401C>G, XM_005267454.2:c.16401C>G, XM_005267454.1:c.16401C>G, XM_005267456.2:c.16401C>G, XM_005267456.1:c.16401C>G, XM_011536581.2:c.16401C>G, XM_011536581.1:c.16401C>G, XM_005267457.2:c.16401C>G, XM_005267457.1:c.16401C>G, XM_005267458.2:c.16401C>G, XM_005267458.1:c.16401C>G, XM_011536582.2:c.16284C>G, XM_011536582.1:c.16284C>G, XM_005267459.2:c.16401C>G, XM_005267459.1:c.16401C>G, XM_047431152.1:c.16401C>G, XM_047431149.1:c.16401C>G, XM_047431151.1:c.16401C>G, XM_047431153.1:c.16401C>G, XM_047431150.1:c.16401C>G, XM_047431154.1:c.16401C>G, XM_047431156.1:c.16401C>G, XM_047431155.1:c.16401C>G, XM_047431157.1:c.16284C>G, XM_047431158.1:c.16284C>G, XM_047431160.1:c.4077C>G

              7.

              rs1490217908 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>- [Show Flanks]
                Chromosome:
                14:63981153 (GRCh38)
                14:64447871 (GRCh37)
                Canonical SPDI:
                NC_000014.9:63981151:AAA:A
                Gene:
                SYNE2 (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000051/1 (ALFA)
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.63981153_63981154del, NC_000014.8:g.64447871_64447872del, NG_011756.2:g.224255_224256del, NM_015180.6:c.1816_1817del, NM_015180.5:c.1816_1817del, NM_015180.4:c.1816_1817del, NM_182914.3:c.1816_1817del, NM_182914.2:c.1816_1817del, XM_011536576.3:c.1816_1817del, XM_011536576.2:c.1816_1817del, XM_011536576.1:c.1816_1817del, XM_011536575.3:c.1816_1817del, XM_011536575.2:c.1816_1817del, XM_011536575.1:c.1816_1817del, XM_011536580.3:c.1816_1817del, XM_011536580.2:c.1816_1817del, XM_011536580.1:c.1816_1817del, XM_011536577.3:c.1816_1817del, XM_011536577.2:c.1816_1817del, XM_011536577.1:c.1816_1817del, XM_011536584.3:c.1816_1817del, XM_011536584.2:c.1816_1817del, XM_011536584.1:c.1816_1817del, XM_017021101.2:c.1816_1817del, XM_017021101.1:c.1816_1817del, XM_011536574.2:c.1816_1817del, XM_011536574.1:c.1816_1817del, XM_011536578.2:c.1816_1817del, XM_011536578.1:c.1816_1817del, XM_011536579.2:c.1816_1817del, XM_011536579.1:c.1816_1817del, XM_005267454.2:c.1816_1817del, XM_005267454.1:c.1816_1817del, XM_005267456.2:c.1816_1817del, XM_005267456.1:c.1816_1817del, XM_011536581.2:c.1816_1817del, XM_011536581.1:c.1816_1817del, XM_005267457.2:c.1816_1817del, XM_005267457.1:c.1816_1817del, XM_005267458.2:c.1816_1817del, XM_005267458.1:c.1816_1817del, XM_011536582.2:c.1816_1817del, XM_011536582.1:c.1816_1817del, XM_005267459.2:c.1816_1817del, XM_005267459.1:c.1816_1817del, XM_047431152.1:c.1816_1817del, XM_047431149.1:c.1816_1817del, XM_047431151.1:c.1816_1817del, XM_047431153.1:c.1816_1817del, XM_047431150.1:c.1816_1817del, XM_047431154.1:c.1816_1817del, XM_047431156.1:c.1816_1817del, XM_047431155.1:c.1816_1817del, XM_047431157.1:c.1816_1817del, XM_047431158.1:c.1816_1817del, XM_047431159.1:c.1816_1817del, NP_055995.4:p.Lys606fs, NP_878918.2:p.Lys606fs, XP_011534878.1:p.Lys606fs, XP_011534877.1:p.Lys606fs, XP_011534882.1:p.Lys606fs, XP_011534879.1:p.Lys606fs, XP_011534886.1:p.Lys606fs, XP_016876590.1:p.Lys606fs, XP_011534876.1:p.Lys606fs, XP_011534880.1:p.Lys606fs, XP_011534881.1:p.Lys606fs, XP_005267511.1:p.Lys606fs, XP_005267513.1:p.Lys606fs, XP_011534883.1:p.Lys606fs, XP_005267514.1:p.Lys606fs, XP_005267515.1:p.Lys606fs, XP_011534884.1:p.Lys606fs, XP_005267516.1:p.Lys606fs, XP_047287108.1:p.Lys606fs, XP_047287105.1:p.Lys606fs, XP_047287107.1:p.Lys606fs, XP_047287109.1:p.Lys606fs, XP_047287106.1:p.Lys606fs, XP_047287110.1:p.Lys606fs, XP_047287112.1:p.Lys606fs, XP_047287111.1:p.Lys606fs, XP_047287113.1:p.Lys606fs, XP_047287114.1:p.Lys606fs, XP_047287115.1:p.Lys606fs

                8.

                rs1490202135 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  14:63986592 (GRCh38)
                  14:64453310 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:63986591:A:T
                  Gene:
                  SYNE2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_upstream_transcript_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_000014.9:g.63986592A>T, NC_000014.8:g.64453310A>T, NG_011756.2:g.229694A>T, NM_015180.6:c.2288A>T, NM_015180.5:c.2288A>T, NM_015180.4:c.2288A>T, NM_182914.3:c.2288A>T, NM_182914.2:c.2288A>T, XM_011536576.3:c.2288A>T, XM_011536576.2:c.2288A>T, XM_011536576.1:c.2288A>T, XM_011536575.3:c.2288A>T, XM_011536575.2:c.2288A>T, XM_011536575.1:c.2288A>T, XM_011536580.3:c.2288A>T, XM_011536580.2:c.2288A>T, XM_011536580.1:c.2288A>T, XM_011536577.3:c.2288A>T, XM_011536577.2:c.2288A>T, XM_011536577.1:c.2288A>T, XM_011536584.3:c.2288A>T, XM_011536584.2:c.2288A>T, XM_011536584.1:c.2288A>T, XM_017021101.2:c.2288A>T, XM_017021101.1:c.2288A>T, XM_011536574.2:c.2288A>T, XM_011536574.1:c.2288A>T, XM_011536578.2:c.2288A>T, XM_011536578.1:c.2288A>T, XM_011536579.2:c.2288A>T, XM_011536579.1:c.2288A>T, XM_005267454.2:c.2288A>T, XM_005267454.1:c.2288A>T, XM_005267456.2:c.2288A>T, XM_005267456.1:c.2288A>T, XM_011536581.2:c.2288A>T, XM_011536581.1:c.2288A>T, XM_005267457.2:c.2288A>T, XM_005267457.1:c.2288A>T, XM_005267458.2:c.2288A>T, XM_005267458.1:c.2288A>T, XM_011536582.2:c.2288A>T, XM_011536582.1:c.2288A>T, XM_005267459.2:c.2288A>T, XM_005267459.1:c.2288A>T, XM_047431152.1:c.2288A>T, XM_047431149.1:c.2288A>T, XM_047431151.1:c.2288A>T, XM_047431153.1:c.2288A>T, XM_047431150.1:c.2288A>T, XM_047431154.1:c.2288A>T, XM_047431156.1:c.2288A>T, XM_047431155.1:c.2288A>T, XM_047431157.1:c.2288A>T, XM_047431158.1:c.2288A>T, XM_047431159.1:c.2288A>T, NP_055995.4:p.Asp763Val, NP_878918.2:p.Asp763Val, XP_011534878.1:p.Asp763Val, XP_011534877.1:p.Asp763Val, XP_011534882.1:p.Asp763Val, XP_011534879.1:p.Asp763Val, XP_011534886.1:p.Asp763Val, XP_016876590.1:p.Asp763Val, XP_011534876.1:p.Asp763Val, XP_011534880.1:p.Asp763Val, XP_011534881.1:p.Asp763Val, XP_005267511.1:p.Asp763Val, XP_005267513.1:p.Asp763Val, XP_011534883.1:p.Asp763Val, XP_005267514.1:p.Asp763Val, XP_005267515.1:p.Asp763Val, XP_011534884.1:p.Asp763Val, XP_005267516.1:p.Asp763Val, XP_047287108.1:p.Asp763Val, XP_047287105.1:p.Asp763Val, XP_047287107.1:p.Asp763Val, XP_047287109.1:p.Asp763Val, XP_047287106.1:p.Asp763Val, XP_047287110.1:p.Asp763Val, XP_047287112.1:p.Asp763Val, XP_047287111.1:p.Asp763Val, XP_047287113.1:p.Asp763Val, XP_047287114.1:p.Asp763Val, XP_047287115.1:p.Asp763Val

                  9.

                  rs1489754792 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:64210057 (GRCh38)
                    14:64676775 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:64210056:T:C
                    Gene:
                    SYNE2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000014.9:g.64210057T>C, NC_000014.8:g.64676775T>C, NG_011756.2:g.453159T>C, NM_015180.6:c.18656T>C, NM_015180.5:c.18656T>C, NM_015180.4:c.18656T>C, NM_182914.3:c.18656T>C, NM_182914.2:c.18656T>C, XM_011536576.3:c.18656T>C, XM_011536576.2:c.18656T>C, XM_011536576.1:c.18656T>C, XM_011536575.3:c.18656T>C, XM_011536575.2:c.18656T>C, XM_011536575.1:c.18656T>C, XM_011536580.3:c.18656T>C, XM_011536580.2:c.18656T>C, XM_011536580.1:c.18656T>C, XM_011536577.3:c.18656T>C, XM_011536577.2:c.18656T>C, XM_011536577.1:c.18656T>C, XM_017021103.3:c.638T>C, XM_017021103.2:c.638T>C, XM_017021103.1:c.638T>C, XM_017021104.3:c.638T>C, XM_017021104.2:c.638T>C, XM_017021104.1:c.638T>C, XM_017021101.2:c.18656T>C, XM_017021101.1:c.18656T>C, XM_011536574.2:c.18656T>C, XM_011536574.1:c.18656T>C, XM_011536578.2:c.18656T>C, XM_011536578.1:c.18656T>C, XM_011536579.2:c.18656T>C, XM_011536579.1:c.18656T>C, XM_005267454.2:c.18656T>C, XM_005267454.1:c.18656T>C, XM_005267456.2:c.18656T>C, XM_005267456.1:c.18656T>C, XM_011536581.2:c.18656T>C, XM_011536581.1:c.18656T>C, XM_005267457.2:c.18656T>C, XM_005267457.1:c.18656T>C, XM_005267458.2:c.18656T>C, XM_005267458.1:c.18656T>C, XM_011536582.2:c.18539T>C, XM_011536582.1:c.18539T>C, XM_005267459.2:c.18656T>C, XM_005267459.1:c.18656T>C, XM_047431152.1:c.18656T>C, XM_047431149.1:c.18656T>C, XM_047431151.1:c.18656T>C, XM_047431153.1:c.18656T>C, XM_047431150.1:c.18656T>C, XM_047431154.1:c.18656T>C, XM_047431156.1:c.18656T>C, XM_047431155.1:c.18656T>C, XM_047431157.1:c.18539T>C, XM_047431158.1:c.18539T>C, XM_047431160.1:c.6332T>C, XM_047431161.1:c.638T>C, NM_182912.1:c.290T>C, NP_055995.4:p.Val6219Ala, NP_878918.2:p.Val6219Ala, XP_011534878.1:p.Val6219Ala, XP_011534877.1:p.Val6219Ala, XP_011534882.1:p.Val6219Ala, XP_011534879.1:p.Val6219Ala, XP_016876592.1:p.Val213Ala, XP_016876593.1:p.Val213Ala, XP_016876590.1:p.Val6219Ala, XP_011534876.1:p.Val6219Ala, XP_011534880.1:p.Val6219Ala, XP_011534881.1:p.Val6219Ala, XP_005267511.1:p.Val6219Ala, XP_005267513.1:p.Val6219Ala, XP_011534883.1:p.Val6219Ala, XP_005267514.1:p.Val6219Ala, XP_005267515.1:p.Val6219Ala, XP_011534884.1:p.Val6180Ala, XP_005267516.1:p.Val6219Ala, XP_047287108.1:p.Val6219Ala, XP_047287105.1:p.Val6219Ala, XP_047287107.1:p.Val6219Ala, XP_047287109.1:p.Val6219Ala, XP_047287106.1:p.Val6219Ala, XP_047287110.1:p.Val6219Ala, XP_047287112.1:p.Val6219Ala, XP_047287111.1:p.Val6219Ala, XP_047287113.1:p.Val6180Ala, XP_047287114.1:p.Val6180Ala, XP_047287116.1:p.Val2111Ala, XP_047287117.1:p.Val213Ala

                    10.

                    rs1489740497 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      14:64062887 (GRCh38)
                      14:64529605 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:64062886:C:G
                      Gene:
                      SYNE2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.64062887C>G, NC_000014.8:g.64529605C>G, NG_011756.2:g.305989C>G, NM_015180.6:c.10204C>G, NM_015180.5:c.10204C>G, NM_015180.4:c.10204C>G, NM_182914.3:c.10204C>G, NM_182914.2:c.10204C>G, XM_011536576.3:c.10204C>G, XM_011536576.2:c.10204C>G, XM_011536576.1:c.10204C>G, XM_011536575.3:c.10204C>G, XM_011536575.2:c.10204C>G, XM_011536575.1:c.10204C>G, XM_011536580.3:c.10204C>G, XM_011536580.2:c.10204C>G, XM_011536580.1:c.10204C>G, XM_011536577.3:c.10204C>G, XM_011536577.2:c.10204C>G, XM_011536577.1:c.10204C>G, XM_011536584.3:c.10204C>G, XM_011536584.2:c.10204C>G, XM_011536584.1:c.10204C>G, XM_017021101.2:c.10204C>G, XM_017021101.1:c.10204C>G, XM_011536574.2:c.10204C>G, XM_011536574.1:c.10204C>G, XM_011536578.2:c.10204C>G, XM_011536578.1:c.10204C>G, XM_011536579.2:c.10204C>G, XM_011536579.1:c.10204C>G, XM_005267454.2:c.10204C>G, XM_005267454.1:c.10204C>G, XM_005267456.2:c.10204C>G, XM_005267456.1:c.10204C>G, XM_011536581.2:c.10204C>G, XM_011536581.1:c.10204C>G, XM_005267457.2:c.10204C>G, XM_005267457.1:c.10204C>G, XM_005267458.2:c.10204C>G, XM_005267458.1:c.10204C>G, XM_011536582.2:c.10204C>G, XM_011536582.1:c.10204C>G, XM_005267459.2:c.10204C>G, XM_005267459.1:c.10204C>G, XM_047431152.1:c.10204C>G, XM_047431149.1:c.10204C>G, XM_047431151.1:c.10204C>G, XM_047431153.1:c.10204C>G, XM_047431150.1:c.10204C>G, XM_047431154.1:c.10204C>G, XM_047431156.1:c.10204C>G, XM_047431155.1:c.10204C>G, XM_047431157.1:c.10204C>G, XM_047431158.1:c.10204C>G, XM_047431159.1:c.10204C>G, NP_055995.4:p.Gln3402Glu, NP_878918.2:p.Gln3402Glu, XP_011534878.1:p.Gln3402Glu, XP_011534877.1:p.Gln3402Glu, XP_011534882.1:p.Gln3402Glu, XP_011534879.1:p.Gln3402Glu, XP_011534886.1:p.Gln3402Glu, XP_016876590.1:p.Gln3402Glu, XP_011534876.1:p.Gln3402Glu, XP_011534880.1:p.Gln3402Glu, XP_011534881.1:p.Gln3402Glu, XP_005267511.1:p.Gln3402Glu, XP_005267513.1:p.Gln3402Glu, XP_011534883.1:p.Gln3402Glu, XP_005267514.1:p.Gln3402Glu, XP_005267515.1:p.Gln3402Glu, XP_011534884.1:p.Gln3402Glu, XP_005267516.1:p.Gln3402Glu, XP_047287108.1:p.Gln3402Glu, XP_047287105.1:p.Gln3402Glu, XP_047287107.1:p.Gln3402Glu, XP_047287109.1:p.Gln3402Glu, XP_047287106.1:p.Gln3402Glu, XP_047287110.1:p.Gln3402Glu, XP_047287112.1:p.Gln3402Glu, XP_047287111.1:p.Gln3402Glu, XP_047287113.1:p.Gln3402Glu, XP_047287114.1:p.Gln3402Glu, XP_047287115.1:p.Gln3402Glu

                      11.

                      rs1489141038 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:64220626 (GRCh38)
                        14:64687344 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:64220625:A:G
                        Gene:
                        SYNE2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        G=0.000029/4 (GnomAD)
                        HGVS:
                        NC_000014.9:g.64220626A>G, NC_000014.8:g.64687344A>G, NG_011756.2:g.463728A>G, NM_015180.6:c.19981A>G, NM_015180.5:c.19981A>G, NM_015180.4:c.19981A>G, NM_182913.4:c.952A>G, NM_182913.3:c.952A>G, NM_182913.2:c.952A>G, NM_182914.3:c.20050A>G, NM_182914.2:c.20050A>G, NM_182910.2:c.574A>G, XM_011536576.3:c.20092A>G, XM_011536576.2:c.20092A>G, XM_011536576.1:c.20092A>G, XM_011536575.3:c.20092A>G, XM_011536575.2:c.20092A>G, XM_011536575.1:c.20092A>G, XM_011536580.3:c.20092A>G, XM_011536580.2:c.20092A>G, XM_011536580.1:c.20092A>G, XM_011536577.3:c.20092A>G, XM_011536577.2:c.20092A>G, XM_011536577.1:c.20092A>G, XM_017021103.3:c.2032A>G, XM_017021103.2:c.2032A>G, XM_017021103.1:c.2032A>G, XM_017021104.3:c.2032A>G, XM_017021104.2:c.2032A>G, XM_017021104.1:c.2032A>G, XM_017021101.2:c.20092A>G, XM_017021101.1:c.20092A>G, XM_011536574.2:c.20092A>G, XM_011536574.1:c.20092A>G, XM_011536578.2:c.20092A>G, XM_011536578.1:c.20092A>G, XM_011536579.2:c.20092A>G, XM_011536579.1:c.20092A>G, XM_005267454.2:c.20050A>G, XM_005267454.1:c.20050A>G, XM_005267456.2:c.20050A>G, XM_005267456.1:c.20050A>G, XM_011536581.2:c.20023A>G, XM_011536581.1:c.20023A>G, XM_005267457.2:c.20050A>G, XM_005267457.1:c.20050A>G, XM_005267458.2:c.19981A>G, XM_005267458.1:c.19981A>G, XM_011536582.2:c.19975A>G, XM_011536582.1:c.19975A>G, XM_005267459.2:c.19981A>G, XM_005267459.1:c.19981A>G, XM_047431152.1:c.20092A>G, XM_047431149.1:c.20092A>G, XM_047431151.1:c.20092A>G, XM_047431153.1:c.20023A>G, XM_047431150.1:c.20092A>G, XM_047431154.1:c.20023A>G, XM_047431156.1:c.20023A>G, XM_047431155.1:c.19981A>G, XM_047431157.1:c.19933A>G, XM_047431158.1:c.19864A>G, XM_047431160.1:c.7768A>G, XM_047431161.1:c.1963A>G, NM_182912.1:c.1615A>G, NP_055995.4:p.Met6661Val, NP_878917.1:p.Met318Val, NP_878918.2:p.Met6684Val, NP_878914.1:p.Met192Val, XP_011534878.1:p.Met6698Val, XP_011534877.1:p.Met6698Val, XP_011534882.1:p.Met6698Val, XP_011534879.1:p.Met6698Val, XP_016876592.1:p.Met678Val, XP_016876593.1:p.Met678Val, XP_016876590.1:p.Met6698Val, XP_011534876.1:p.Met6698Val, XP_011534880.1:p.Met6698Val, XP_011534881.1:p.Met6698Val, XP_005267511.1:p.Met6684Val, XP_005267513.1:p.Met6684Val, XP_011534883.1:p.Met6675Val, XP_005267514.1:p.Met6684Val, XP_005267515.1:p.Met6661Val, XP_011534884.1:p.Met6659Val, XP_005267516.1:p.Met6661Val, XP_047287108.1:p.Met6698Val, XP_047287105.1:p.Met6698Val, XP_047287107.1:p.Met6698Val, XP_047287109.1:p.Met6675Val, XP_047287106.1:p.Met6698Val, XP_047287110.1:p.Met6675Val, XP_047287112.1:p.Met6675Val, XP_047287111.1:p.Met6661Val, XP_047287113.1:p.Met6645Val, XP_047287114.1:p.Met6622Val, XP_047287116.1:p.Met2590Val, XP_047287117.1:p.Met655Val

                        12.

                        rs1488952144 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          14:64052656 (GRCh38)
                          14:64519374 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:64052655:G:C
                          Gene:
                          SYNE2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000014.9:g.64052656G>C, NC_000014.8:g.64519374G>C, NG_011756.2:g.295758G>C, NM_015180.6:c.8743G>C, NM_015180.5:c.8743G>C, NM_015180.4:c.8743G>C, NM_182914.3:c.8743G>C, NM_182914.2:c.8743G>C, XM_011536576.3:c.8743G>C, XM_011536576.2:c.8743G>C, XM_011536576.1:c.8743G>C, XM_011536575.3:c.8743G>C, XM_011536575.2:c.8743G>C, XM_011536575.1:c.8743G>C, XM_011536580.3:c.8743G>C, XM_011536580.2:c.8743G>C, XM_011536580.1:c.8743G>C, XM_011536577.3:c.8743G>C, XM_011536577.2:c.8743G>C, XM_011536577.1:c.8743G>C, XM_011536584.3:c.8743G>C, XM_011536584.2:c.8743G>C, XM_011536584.1:c.8743G>C, XM_017021101.2:c.8743G>C, XM_017021101.1:c.8743G>C, XM_011536574.2:c.8743G>C, XM_011536574.1:c.8743G>C, XM_011536578.2:c.8743G>C, XM_011536578.1:c.8743G>C, XM_011536579.2:c.8743G>C, XM_011536579.1:c.8743G>C, XM_005267454.2:c.8743G>C, XM_005267454.1:c.8743G>C, XM_005267456.2:c.8743G>C, XM_005267456.1:c.8743G>C, XM_011536581.2:c.8743G>C, XM_011536581.1:c.8743G>C, XM_005267457.2:c.8743G>C, XM_005267457.1:c.8743G>C, XM_005267458.2:c.8743G>C, XM_005267458.1:c.8743G>C, XM_011536582.2:c.8743G>C, XM_011536582.1:c.8743G>C, XM_005267459.2:c.8743G>C, XM_005267459.1:c.8743G>C, XM_047431152.1:c.8743G>C, XM_047431149.1:c.8743G>C, XM_047431151.1:c.8743G>C, XM_047431153.1:c.8743G>C, XM_047431150.1:c.8743G>C, XM_047431154.1:c.8743G>C, XM_047431156.1:c.8743G>C, XM_047431155.1:c.8743G>C, XM_047431157.1:c.8743G>C, XM_047431158.1:c.8743G>C, XM_047431159.1:c.8743G>C, NP_055995.4:p.Asp2915His, NP_878918.2:p.Asp2915His, XP_011534878.1:p.Asp2915His, XP_011534877.1:p.Asp2915His, XP_011534882.1:p.Asp2915His, XP_011534879.1:p.Asp2915His, XP_011534886.1:p.Asp2915His, XP_016876590.1:p.Asp2915His, XP_011534876.1:p.Asp2915His, XP_011534880.1:p.Asp2915His, XP_011534881.1:p.Asp2915His, XP_005267511.1:p.Asp2915His, XP_005267513.1:p.Asp2915His, XP_011534883.1:p.Asp2915His, XP_005267514.1:p.Asp2915His, XP_005267515.1:p.Asp2915His, XP_011534884.1:p.Asp2915His, XP_005267516.1:p.Asp2915His, XP_047287108.1:p.Asp2915His, XP_047287105.1:p.Asp2915His, XP_047287107.1:p.Asp2915His, XP_047287109.1:p.Asp2915His, XP_047287106.1:p.Asp2915His, XP_047287110.1:p.Asp2915His, XP_047287112.1:p.Asp2915His, XP_047287111.1:p.Asp2915His, XP_047287113.1:p.Asp2915His, XP_047287114.1:p.Asp2915His, XP_047287115.1:p.Asp2915His

                          13.

                          rs1488931292 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            14:64053328 (GRCh38)
                            14:64520046 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:64053327:A:C
                            Gene:
                            SYNE2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000014.9:g.64053328A>C, NC_000014.8:g.64520046A>C, NG_011756.2:g.296430A>C, NM_015180.6:c.9415A>C, NM_015180.5:c.9415A>C, NM_015180.4:c.9415A>C, NM_182914.3:c.9415A>C, NM_182914.2:c.9415A>C, XM_011536576.3:c.9415A>C, XM_011536576.2:c.9415A>C, XM_011536576.1:c.9415A>C, XM_011536575.3:c.9415A>C, XM_011536575.2:c.9415A>C, XM_011536575.1:c.9415A>C, XM_011536580.3:c.9415A>C, XM_011536580.2:c.9415A>C, XM_011536580.1:c.9415A>C, XM_011536577.3:c.9415A>C, XM_011536577.2:c.9415A>C, XM_011536577.1:c.9415A>C, XM_011536584.3:c.9415A>C, XM_011536584.2:c.9415A>C, XM_011536584.1:c.9415A>C, XM_017021101.2:c.9415A>C, XM_017021101.1:c.9415A>C, XM_011536574.2:c.9415A>C, XM_011536574.1:c.9415A>C, XM_011536578.2:c.9415A>C, XM_011536578.1:c.9415A>C, XM_011536579.2:c.9415A>C, XM_011536579.1:c.9415A>C, XM_005267454.2:c.9415A>C, XM_005267454.1:c.9415A>C, XM_005267456.2:c.9415A>C, XM_005267456.1:c.9415A>C, XM_011536581.2:c.9415A>C, XM_011536581.1:c.9415A>C, XM_005267457.2:c.9415A>C, XM_005267457.1:c.9415A>C, XM_005267458.2:c.9415A>C, XM_005267458.1:c.9415A>C, XM_011536582.2:c.9415A>C, XM_011536582.1:c.9415A>C, XM_005267459.2:c.9415A>C, XM_005267459.1:c.9415A>C, XM_047431152.1:c.9415A>C, XM_047431149.1:c.9415A>C, XM_047431151.1:c.9415A>C, XM_047431153.1:c.9415A>C, XM_047431150.1:c.9415A>C, XM_047431154.1:c.9415A>C, XM_047431156.1:c.9415A>C, XM_047431155.1:c.9415A>C, XM_047431157.1:c.9415A>C, XM_047431158.1:c.9415A>C, XM_047431159.1:c.9415A>C, NP_055995.4:p.Asn3139His, NP_878918.2:p.Asn3139His, XP_011534878.1:p.Asn3139His, XP_011534877.1:p.Asn3139His, XP_011534882.1:p.Asn3139His, XP_011534879.1:p.Asn3139His, XP_011534886.1:p.Asn3139His, XP_016876590.1:p.Asn3139His, XP_011534876.1:p.Asn3139His, XP_011534880.1:p.Asn3139His, XP_011534881.1:p.Asn3139His, XP_005267511.1:p.Asn3139His, XP_005267513.1:p.Asn3139His, XP_011534883.1:p.Asn3139His, XP_005267514.1:p.Asn3139His, XP_005267515.1:p.Asn3139His, XP_011534884.1:p.Asn3139His, XP_005267516.1:p.Asn3139His, XP_047287108.1:p.Asn3139His, XP_047287105.1:p.Asn3139His, XP_047287107.1:p.Asn3139His, XP_047287109.1:p.Asn3139His, XP_047287106.1:p.Asn3139His, XP_047287110.1:p.Asn3139His, XP_047287112.1:p.Asn3139His, XP_047287111.1:p.Asn3139His, XP_047287113.1:p.Asn3139His, XP_047287114.1:p.Asn3139His, XP_047287115.1:p.Asn3139His

                            14.

                            rs1488827425 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              14:63982653 (GRCh38)
                              14:64449371 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:63982652:G:A,NC_000014.9:63982652:G:C
                              Gene:
                              SYNE2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000014.9:g.63982653G>A, NC_000014.9:g.63982653G>C, NC_000014.8:g.64449371G>A, NC_000014.8:g.64449371G>C, NG_011756.2:g.225755G>A, NG_011756.2:g.225755G>C, NM_015180.6:c.1860G>A, NM_015180.6:c.1860G>C, NM_015180.5:c.1860G>A, NM_015180.5:c.1860G>C, NM_015180.4:c.1860G>A, NM_015180.4:c.1860G>C, NM_182914.3:c.1860G>A, NM_182914.3:c.1860G>C, NM_182914.2:c.1860G>A, NM_182914.2:c.1860G>C, XM_011536576.3:c.1860G>A, XM_011536576.3:c.1860G>C, XM_011536576.2:c.1860G>A, XM_011536576.2:c.1860G>C, XM_011536576.1:c.1860G>A, XM_011536576.1:c.1860G>C, XM_011536575.3:c.1860G>A, XM_011536575.3:c.1860G>C, XM_011536575.2:c.1860G>A, XM_011536575.2:c.1860G>C, XM_011536575.1:c.1860G>A, XM_011536575.1:c.1860G>C, XM_011536580.3:c.1860G>A, XM_011536580.3:c.1860G>C, XM_011536580.2:c.1860G>A, XM_011536580.2:c.1860G>C, XM_011536580.1:c.1860G>A, XM_011536580.1:c.1860G>C, XM_011536577.3:c.1860G>A, XM_011536577.3:c.1860G>C, XM_011536577.2:c.1860G>A, XM_011536577.2:c.1860G>C, XM_011536577.1:c.1860G>A, XM_011536577.1:c.1860G>C, XM_011536584.3:c.1860G>A, XM_011536584.3:c.1860G>C, XM_011536584.2:c.1860G>A, XM_011536584.2:c.1860G>C, XM_011536584.1:c.1860G>A, XM_011536584.1:c.1860G>C, XM_017021101.2:c.1860G>A, XM_017021101.2:c.1860G>C, XM_017021101.1:c.1860G>A, XM_017021101.1:c.1860G>C, XM_011536574.2:c.1860G>A, XM_011536574.2:c.1860G>C, XM_011536574.1:c.1860G>A, XM_011536574.1:c.1860G>C, XM_011536578.2:c.1860G>A, XM_011536578.2:c.1860G>C, XM_011536578.1:c.1860G>A, XM_011536578.1:c.1860G>C, XM_011536579.2:c.1860G>A, XM_011536579.2:c.1860G>C, XM_011536579.1:c.1860G>A, XM_011536579.1:c.1860G>C, XM_005267454.2:c.1860G>A, XM_005267454.2:c.1860G>C, XM_005267454.1:c.1860G>A, XM_005267454.1:c.1860G>C, XM_005267456.2:c.1860G>A, XM_005267456.2:c.1860G>C, XM_005267456.1:c.1860G>A, XM_005267456.1:c.1860G>C, XM_011536581.2:c.1860G>A, XM_011536581.2:c.1860G>C, XM_011536581.1:c.1860G>A, XM_011536581.1:c.1860G>C, XM_005267457.2:c.1860G>A, XM_005267457.2:c.1860G>C, XM_005267457.1:c.1860G>A, XM_005267457.1:c.1860G>C, XM_005267458.2:c.1860G>A, XM_005267458.2:c.1860G>C, XM_005267458.1:c.1860G>A, XM_005267458.1:c.1860G>C, XM_011536582.2:c.1860G>A, XM_011536582.2:c.1860G>C, XM_011536582.1:c.1860G>A, XM_011536582.1:c.1860G>C, XM_005267459.2:c.1860G>A, XM_005267459.2:c.1860G>C, XM_005267459.1:c.1860G>A, XM_005267459.1:c.1860G>C, XM_047431152.1:c.1860G>A, XM_047431152.1:c.1860G>C, XM_047431149.1:c.1860G>A, XM_047431149.1:c.1860G>C, XM_047431151.1:c.1860G>A, XM_047431151.1:c.1860G>C, XM_047431153.1:c.1860G>A, XM_047431153.1:c.1860G>C, XM_047431150.1:c.1860G>A, XM_047431150.1:c.1860G>C, XM_047431154.1:c.1860G>A, XM_047431154.1:c.1860G>C, XM_047431156.1:c.1860G>A, XM_047431156.1:c.1860G>C, XM_047431155.1:c.1860G>A, XM_047431155.1:c.1860G>C, XM_047431157.1:c.1860G>A, XM_047431157.1:c.1860G>C, XM_047431158.1:c.1860G>A, XM_047431158.1:c.1860G>C, XM_047431159.1:c.1860G>A, XM_047431159.1:c.1860G>C, NP_055995.4:p.Gln620His, NP_878918.2:p.Gln620His, XP_011534878.1:p.Gln620His, XP_011534877.1:p.Gln620His, XP_011534882.1:p.Gln620His, XP_011534879.1:p.Gln620His, XP_011534886.1:p.Gln620His, XP_016876590.1:p.Gln620His, XP_011534876.1:p.Gln620His, XP_011534880.1:p.Gln620His, XP_011534881.1:p.Gln620His, XP_005267511.1:p.Gln620His, XP_005267513.1:p.Gln620His, XP_011534883.1:p.Gln620His, XP_005267514.1:p.Gln620His, XP_005267515.1:p.Gln620His, XP_011534884.1:p.Gln620His, XP_005267516.1:p.Gln620His, XP_047287108.1:p.Gln620His, XP_047287105.1:p.Gln620His, XP_047287107.1:p.Gln620His, XP_047287109.1:p.Gln620His, XP_047287106.1:p.Gln620His, XP_047287110.1:p.Gln620His, XP_047287112.1:p.Gln620His, XP_047287111.1:p.Gln620His, XP_047287113.1:p.Gln620His, XP_047287114.1:p.Gln620His, XP_047287115.1:p.Gln620His

                              15.

                              rs1488797494 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                14:64065502 (GRCh38)
                                14:64532220 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:64065501:G:T
                                Gene:
                                SYNE2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000014.9:g.64065502G>T, NC_000014.8:g.64532220G>T, NG_011756.2:g.308604G>T, NM_015180.6:c.10283G>T, NM_015180.5:c.10283G>T, NM_015180.4:c.10283G>T, NM_182914.3:c.10283G>T, NM_182914.2:c.10283G>T, XM_011536576.3:c.10283G>T, XM_011536576.2:c.10283G>T, XM_011536576.1:c.10283G>T, XM_011536575.3:c.10283G>T, XM_011536575.2:c.10283G>T, XM_011536575.1:c.10283G>T, XM_011536580.3:c.10283G>T, XM_011536580.2:c.10283G>T, XM_011536580.1:c.10283G>T, XM_011536577.3:c.10283G>T, XM_011536577.2:c.10283G>T, XM_011536577.1:c.10283G>T, XM_011536584.3:c.10283G>T, XM_011536584.2:c.10283G>T, XM_011536584.1:c.10283G>T, XM_017021101.2:c.10283G>T, XM_017021101.1:c.10283G>T, XM_011536574.2:c.10283G>T, XM_011536574.1:c.10283G>T, XM_011536578.2:c.10283G>T, XM_011536578.1:c.10283G>T, XM_011536579.2:c.10283G>T, XM_011536579.1:c.10283G>T, XM_005267454.2:c.10283G>T, XM_005267454.1:c.10283G>T, XM_005267456.2:c.10283G>T, XM_005267456.1:c.10283G>T, XM_011536581.2:c.10283G>T, XM_011536581.1:c.10283G>T, XM_005267457.2:c.10283G>T, XM_005267457.1:c.10283G>T, XM_005267458.2:c.10283G>T, XM_005267458.1:c.10283G>T, XM_011536582.2:c.10283G>T, XM_011536582.1:c.10283G>T, XM_005267459.2:c.10283G>T, XM_005267459.1:c.10283G>T, XM_047431152.1:c.10283G>T, XM_047431149.1:c.10283G>T, XM_047431151.1:c.10283G>T, XM_047431153.1:c.10283G>T, XM_047431150.1:c.10283G>T, XM_047431154.1:c.10283G>T, XM_047431156.1:c.10283G>T, XM_047431155.1:c.10283G>T, XM_047431157.1:c.10283G>T, XM_047431158.1:c.10283G>T, XM_047431159.1:c.10283G>T, NP_055995.4:p.Arg3428Ile, NP_878918.2:p.Arg3428Ile, XP_011534878.1:p.Arg3428Ile, XP_011534877.1:p.Arg3428Ile, XP_011534882.1:p.Arg3428Ile, XP_011534879.1:p.Arg3428Ile, XP_011534886.1:p.Arg3428Ile, XP_016876590.1:p.Arg3428Ile, XP_011534876.1:p.Arg3428Ile, XP_011534880.1:p.Arg3428Ile, XP_011534881.1:p.Arg3428Ile, XP_005267511.1:p.Arg3428Ile, XP_005267513.1:p.Arg3428Ile, XP_011534883.1:p.Arg3428Ile, XP_005267514.1:p.Arg3428Ile, XP_005267515.1:p.Arg3428Ile, XP_011534884.1:p.Arg3428Ile, XP_005267516.1:p.Arg3428Ile, XP_047287108.1:p.Arg3428Ile, XP_047287105.1:p.Arg3428Ile, XP_047287107.1:p.Arg3428Ile, XP_047287109.1:p.Arg3428Ile, XP_047287106.1:p.Arg3428Ile, XP_047287110.1:p.Arg3428Ile, XP_047287112.1:p.Arg3428Ile, XP_047287111.1:p.Arg3428Ile, XP_047287113.1:p.Arg3428Ile, XP_047287114.1:p.Arg3428Ile, XP_047287115.1:p.Arg3428Ile

                                16.

                                rs1488791874 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  14:64122050 (GRCh38)
                                  14:64588768 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:64122049:C:G
                                  Gene:
                                  SYNE2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000014.9:g.64122050C>G, NC_000014.8:g.64588768C>G, NG_011756.2:g.365152C>G, NM_015180.6:c.13197C>G, NM_015180.5:c.13197C>G, NM_015180.4:c.13197C>G, NM_182914.3:c.13197C>G, NM_182914.2:c.13197C>G, XM_011536576.3:c.13197C>G, XM_011536576.2:c.13197C>G, XM_011536576.1:c.13197C>G, XM_011536575.3:c.13197C>G, XM_011536575.2:c.13197C>G, XM_011536575.1:c.13197C>G, XM_011536580.3:c.13197C>G, XM_011536580.2:c.13197C>G, XM_011536580.1:c.13197C>G, XM_011536577.3:c.13197C>G, XM_011536577.2:c.13197C>G, XM_011536577.1:c.13197C>G, XM_017021101.2:c.13197C>G, XM_017021101.1:c.13197C>G, XM_011536574.2:c.13197C>G, XM_011536574.1:c.13197C>G, XM_011536578.2:c.13197C>G, XM_011536578.1:c.13197C>G, XM_011536579.2:c.13197C>G, XM_011536579.1:c.13197C>G, XM_005267454.2:c.13197C>G, XM_005267454.1:c.13197C>G, XM_005267456.2:c.13197C>G, XM_005267456.1:c.13197C>G, XM_011536581.2:c.13197C>G, XM_011536581.1:c.13197C>G, XM_005267457.2:c.13197C>G, XM_005267457.1:c.13197C>G, XM_005267458.2:c.13197C>G, XM_005267458.1:c.13197C>G, XM_011536582.2:c.13080C>G, XM_011536582.1:c.13080C>G, XM_005267459.2:c.13197C>G, XM_005267459.1:c.13197C>G, XM_047431152.1:c.13197C>G, XM_047431149.1:c.13197C>G, XM_047431151.1:c.13197C>G, XM_047431153.1:c.13197C>G, XM_047431150.1:c.13197C>G, XM_047431154.1:c.13197C>G, XM_047431156.1:c.13197C>G, XM_047431155.1:c.13197C>G, XM_047431157.1:c.13080C>G, XM_047431158.1:c.13080C>G, XM_047431159.1:c.13197C>G, XM_047431160.1:c.873C>G, NP_055995.4:p.Ile4399Met, NP_878918.2:p.Ile4399Met, XP_011534878.1:p.Ile4399Met, XP_011534877.1:p.Ile4399Met, XP_011534882.1:p.Ile4399Met, XP_011534879.1:p.Ile4399Met, XP_016876590.1:p.Ile4399Met, XP_011534876.1:p.Ile4399Met, XP_011534880.1:p.Ile4399Met, XP_011534881.1:p.Ile4399Met, XP_005267511.1:p.Ile4399Met, XP_005267513.1:p.Ile4399Met, XP_011534883.1:p.Ile4399Met, XP_005267514.1:p.Ile4399Met, XP_005267515.1:p.Ile4399Met, XP_011534884.1:p.Ile4360Met, XP_005267516.1:p.Ile4399Met, XP_047287108.1:p.Ile4399Met, XP_047287105.1:p.Ile4399Met, XP_047287107.1:p.Ile4399Met, XP_047287109.1:p.Ile4399Met, XP_047287106.1:p.Ile4399Met, XP_047287110.1:p.Ile4399Met, XP_047287112.1:p.Ile4399Met, XP_047287111.1:p.Ile4399Met, XP_047287113.1:p.Ile4360Met, XP_047287114.1:p.Ile4360Met, XP_047287115.1:p.Ile4399Met, XP_047287116.1:p.Ile291Met

                                  17.

                                  rs1488739787 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:64216280 (GRCh38)
                                    14:64682998 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:64216279:G:A
                                    Gene:
                                    SYNE2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.64216280G>A, NC_000014.8:g.64682998G>A, NG_011756.2:g.459382G>A, NM_015180.6:c.19366G>A, NM_015180.5:c.19366G>A, NM_015180.4:c.19366G>A, NM_182913.4:c.337G>A, NM_182913.3:c.337G>A, NM_182913.2:c.337G>A, NM_182914.3:c.19435G>A, NM_182914.2:c.19435G>A, NM_182910.2:c.-42G>A, XM_011536576.3:c.19435G>A, XM_011536576.2:c.19435G>A, XM_011536576.1:c.19435G>A, XM_011536575.3:c.19435G>A, XM_011536575.2:c.19435G>A, XM_011536575.1:c.19435G>A, XM_011536580.3:c.19435G>A, XM_011536580.2:c.19435G>A, XM_011536580.1:c.19435G>A, XM_011536577.3:c.19435G>A, XM_011536577.2:c.19435G>A, XM_011536577.1:c.19435G>A, XM_017021103.3:c.1417G>A, XM_017021103.2:c.1417G>A, XM_017021103.1:c.1417G>A, XM_017021104.3:c.1417G>A, XM_017021104.2:c.1417G>A, XM_017021104.1:c.1417G>A, XM_017021101.2:c.19435G>A, XM_017021101.1:c.19435G>A, XM_011536574.2:c.19435G>A, XM_011536574.1:c.19435G>A, XM_011536578.2:c.19435G>A, XM_011536578.1:c.19435G>A, XM_011536579.2:c.19435G>A, XM_011536579.1:c.19435G>A, XM_005267454.2:c.19435G>A, XM_005267454.1:c.19435G>A, XM_005267456.2:c.19435G>A, XM_005267456.1:c.19435G>A, XM_011536581.2:c.19366G>A, XM_011536581.1:c.19366G>A, XM_005267457.2:c.19435G>A, XM_005267457.1:c.19435G>A, XM_005267458.2:c.19366G>A, XM_005267458.1:c.19366G>A, XM_011536582.2:c.19318G>A, XM_011536582.1:c.19318G>A, XM_005267459.2:c.19366G>A, XM_005267459.1:c.19366G>A, XM_047431152.1:c.19435G>A, XM_047431149.1:c.19435G>A, XM_047431151.1:c.19435G>A, XM_047431153.1:c.19366G>A, XM_047431150.1:c.19435G>A, XM_047431154.1:c.19366G>A, XM_047431156.1:c.19366G>A, XM_047431155.1:c.19366G>A, XM_047431157.1:c.19318G>A, XM_047431158.1:c.19249G>A, XM_047431160.1:c.7111G>A, XM_047431161.1:c.1348G>A, NM_182912.1:c.1000G>A, NP_055995.4:p.Val6456Ile, NP_878917.1:p.Val113Ile, NP_878918.2:p.Val6479Ile, XP_011534878.1:p.Val6479Ile, XP_011534877.1:p.Val6479Ile, XP_011534882.1:p.Val6479Ile, XP_011534879.1:p.Val6479Ile, XP_016876592.1:p.Val473Ile, XP_016876593.1:p.Val473Ile, XP_016876590.1:p.Val6479Ile, XP_011534876.1:p.Val6479Ile, XP_011534880.1:p.Val6479Ile, XP_011534881.1:p.Val6479Ile, XP_005267511.1:p.Val6479Ile, XP_005267513.1:p.Val6479Ile, XP_011534883.1:p.Val6456Ile, XP_005267514.1:p.Val6479Ile, XP_005267515.1:p.Val6456Ile, XP_011534884.1:p.Val6440Ile, XP_005267516.1:p.Val6456Ile, XP_047287108.1:p.Val6479Ile, XP_047287105.1:p.Val6479Ile, XP_047287107.1:p.Val6479Ile, XP_047287109.1:p.Val6456Ile, XP_047287106.1:p.Val6479Ile, XP_047287110.1:p.Val6456Ile, XP_047287112.1:p.Val6456Ile, XP_047287111.1:p.Val6456Ile, XP_047287113.1:p.Val6440Ile, XP_047287114.1:p.Val6417Ile, XP_047287116.1:p.Val2371Ile, XP_047287117.1:p.Val450Ile

                                    18.

                                    rs1488701746 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      14:64002925 (GRCh38)
                                      14:64469643 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:64002924:C:G
                                      Gene:
                                      SYNE2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000047/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.64002925C>G, NC_000014.8:g.64469643C>G, NG_011756.2:g.246027C>G, NM_015180.6:c.3992C>G, NM_015180.5:c.3992C>G, NM_015180.4:c.3992C>G, NM_182914.3:c.3992C>G, NM_182914.2:c.3992C>G, XM_011536576.3:c.3992C>G, XM_011536576.2:c.3992C>G, XM_011536576.1:c.3992C>G, XM_011536575.3:c.3992C>G, XM_011536575.2:c.3992C>G, XM_011536575.1:c.3992C>G, XM_011536580.3:c.3992C>G, XM_011536580.2:c.3992C>G, XM_011536580.1:c.3992C>G, XM_011536577.3:c.3992C>G, XM_011536577.2:c.3992C>G, XM_011536577.1:c.3992C>G, XM_011536584.3:c.3992C>G, XM_011536584.2:c.3992C>G, XM_011536584.1:c.3992C>G, XM_017021101.2:c.3992C>G, XM_017021101.1:c.3992C>G, XM_011536574.2:c.3992C>G, XM_011536574.1:c.3992C>G, XM_011536578.2:c.3992C>G, XM_011536578.1:c.3992C>G, XM_011536579.2:c.3992C>G, XM_011536579.1:c.3992C>G, XM_005267454.2:c.3992C>G, XM_005267454.1:c.3992C>G, XM_005267456.2:c.3992C>G, XM_005267456.1:c.3992C>G, XM_011536581.2:c.3992C>G, XM_011536581.1:c.3992C>G, XM_005267457.2:c.3992C>G, XM_005267457.1:c.3992C>G, XM_005267458.2:c.3992C>G, XM_005267458.1:c.3992C>G, XM_011536582.2:c.3992C>G, XM_011536582.1:c.3992C>G, XM_005267459.2:c.3992C>G, XM_005267459.1:c.3992C>G, XM_047431152.1:c.3992C>G, XM_047431149.1:c.3992C>G, XM_047431151.1:c.3992C>G, XM_047431153.1:c.3992C>G, XM_047431150.1:c.3992C>G, XM_047431154.1:c.3992C>G, XM_047431156.1:c.3992C>G, XM_047431155.1:c.3992C>G, XM_047431157.1:c.3992C>G, XM_047431158.1:c.3992C>G, XM_047431159.1:c.3992C>G, NP_055995.4:p.Ser1331Cys, NP_878918.2:p.Ser1331Cys, XP_011534878.1:p.Ser1331Cys, XP_011534877.1:p.Ser1331Cys, XP_011534882.1:p.Ser1331Cys, XP_011534879.1:p.Ser1331Cys, XP_011534886.1:p.Ser1331Cys, XP_016876590.1:p.Ser1331Cys, XP_011534876.1:p.Ser1331Cys, XP_011534880.1:p.Ser1331Cys, XP_011534881.1:p.Ser1331Cys, XP_005267511.1:p.Ser1331Cys, XP_005267513.1:p.Ser1331Cys, XP_011534883.1:p.Ser1331Cys, XP_005267514.1:p.Ser1331Cys, XP_005267515.1:p.Ser1331Cys, XP_011534884.1:p.Ser1331Cys, XP_005267516.1:p.Ser1331Cys, XP_047287108.1:p.Ser1331Cys, XP_047287105.1:p.Ser1331Cys, XP_047287107.1:p.Ser1331Cys, XP_047287109.1:p.Ser1331Cys, XP_047287106.1:p.Ser1331Cys, XP_047287110.1:p.Ser1331Cys, XP_047287112.1:p.Ser1331Cys, XP_047287111.1:p.Ser1331Cys, XP_047287113.1:p.Ser1331Cys, XP_047287114.1:p.Ser1331Cys, XP_047287115.1:p.Ser1331Cys

                                      19.

                                      rs1488690382 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:63954761 (GRCh38)
                                        14:64421479 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:63954760:A:G
                                        Gene:
                                        SYNE2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.63954761A>G, NC_000014.8:g.64421479A>G, NG_011756.2:g.197863A>G, NM_015180.6:c.633A>G, NM_015180.5:c.633A>G, NM_015180.4:c.633A>G, NM_182914.3:c.633A>G, NM_182914.2:c.633A>G, XM_011536576.3:c.633A>G, XM_011536576.2:c.633A>G, XM_011536576.1:c.633A>G, XM_011536575.3:c.633A>G, XM_011536575.2:c.633A>G, XM_011536575.1:c.633A>G, XM_011536580.3:c.633A>G, XM_011536580.2:c.633A>G, XM_011536580.1:c.633A>G, XM_011536577.3:c.633A>G, XM_011536577.2:c.633A>G, XM_011536577.1:c.633A>G, XM_011536584.3:c.633A>G, XM_011536584.2:c.633A>G, XM_011536584.1:c.633A>G, XM_017021101.2:c.633A>G, XM_017021101.1:c.633A>G, XM_011536574.2:c.633A>G, XM_011536574.1:c.633A>G, XM_011536578.2:c.633A>G, XM_011536578.1:c.633A>G, XM_011536579.2:c.633A>G, XM_011536579.1:c.633A>G, XM_005267454.2:c.633A>G, XM_005267454.1:c.633A>G, XM_005267456.2:c.633A>G, XM_005267456.1:c.633A>G, XM_011536581.2:c.633A>G, XM_011536581.1:c.633A>G, XM_005267457.2:c.633A>G, XM_005267457.1:c.633A>G, XM_005267458.2:c.633A>G, XM_005267458.1:c.633A>G, XM_011536582.2:c.633A>G, XM_011536582.1:c.633A>G, XM_005267459.2:c.633A>G, XM_005267459.1:c.633A>G, XM_047431152.1:c.633A>G, XM_047431149.1:c.633A>G, XM_047431151.1:c.633A>G, XM_047431153.1:c.633A>G, XM_047431150.1:c.633A>G, XM_047431154.1:c.633A>G, XM_047431156.1:c.633A>G, XM_047431155.1:c.633A>G, XM_047431157.1:c.633A>G, XM_047431158.1:c.633A>G, XM_047431159.1:c.633A>G

                                        20.

                                        rs1488357468 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          14:64052197 (GRCh38)
                                          14:64518915 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:64052196:C:A,NC_000014.9:64052196:C:G
                                          Gene:
                                          SYNE2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000008/2 (GnomAD_exomes)
                                          G=0.000035/1 (TOMMO)
                                          HGVS:
                                          NC_000014.9:g.64052197C>A, NC_000014.9:g.64052197C>G, NC_000014.8:g.64518915C>A, NC_000014.8:g.64518915C>G, NG_011756.2:g.295299C>A, NG_011756.2:g.295299C>G, NM_015180.6:c.8284C>A, NM_015180.6:c.8284C>G, NM_015180.5:c.8284C>A, NM_015180.5:c.8284C>G, NM_015180.4:c.8284C>A, NM_015180.4:c.8284C>G, NM_182914.3:c.8284C>A, NM_182914.3:c.8284C>G, NM_182914.2:c.8284C>A, NM_182914.2:c.8284C>G, XM_011536576.3:c.8284C>A, XM_011536576.3:c.8284C>G, XM_011536576.2:c.8284C>A, XM_011536576.2:c.8284C>G, XM_011536576.1:c.8284C>A, XM_011536576.1:c.8284C>G, XM_011536575.3:c.8284C>A, XM_011536575.3:c.8284C>G, XM_011536575.2:c.8284C>A, XM_011536575.2:c.8284C>G, XM_011536575.1:c.8284C>A, XM_011536575.1:c.8284C>G, XM_011536580.3:c.8284C>A, XM_011536580.3:c.8284C>G, XM_011536580.2:c.8284C>A, XM_011536580.2:c.8284C>G, XM_011536580.1:c.8284C>A, XM_011536580.1:c.8284C>G, XM_011536577.3:c.8284C>A, XM_011536577.3:c.8284C>G, XM_011536577.2:c.8284C>A, XM_011536577.2:c.8284C>G, XM_011536577.1:c.8284C>A, XM_011536577.1:c.8284C>G, XM_011536584.3:c.8284C>A, XM_011536584.3:c.8284C>G, XM_011536584.2:c.8284C>A, XM_011536584.2:c.8284C>G, XM_011536584.1:c.8284C>A, XM_011536584.1:c.8284C>G, XM_017021101.2:c.8284C>A, XM_017021101.2:c.8284C>G, XM_017021101.1:c.8284C>A, XM_017021101.1:c.8284C>G, XM_011536574.2:c.8284C>A, XM_011536574.2:c.8284C>G, XM_011536574.1:c.8284C>A, XM_011536574.1:c.8284C>G, XM_011536578.2:c.8284C>A, XM_011536578.2:c.8284C>G, XM_011536578.1:c.8284C>A, XM_011536578.1:c.8284C>G, XM_011536579.2:c.8284C>A, XM_011536579.2:c.8284C>G, XM_011536579.1:c.8284C>A, XM_011536579.1:c.8284C>G, XM_005267454.2:c.8284C>A, XM_005267454.2:c.8284C>G, XM_005267454.1:c.8284C>A, XM_005267454.1:c.8284C>G, XM_005267456.2:c.8284C>A, XM_005267456.2:c.8284C>G, XM_005267456.1:c.8284C>A, XM_005267456.1:c.8284C>G, XM_011536581.2:c.8284C>A, XM_011536581.2:c.8284C>G, XM_011536581.1:c.8284C>A, XM_011536581.1:c.8284C>G, XM_005267457.2:c.8284C>A, XM_005267457.2:c.8284C>G, XM_005267457.1:c.8284C>A, XM_005267457.1:c.8284C>G, XM_005267458.2:c.8284C>A, XM_005267458.2:c.8284C>G, XM_005267458.1:c.8284C>A, XM_005267458.1:c.8284C>G, XM_011536582.2:c.8284C>A, XM_011536582.2:c.8284C>G, XM_011536582.1:c.8284C>A, XM_011536582.1:c.8284C>G, XM_005267459.2:c.8284C>A, XM_005267459.2:c.8284C>G, XM_005267459.1:c.8284C>A, XM_005267459.1:c.8284C>G, XM_047431152.1:c.8284C>A, XM_047431152.1:c.8284C>G, XM_047431149.1:c.8284C>A, XM_047431149.1:c.8284C>G, XM_047431151.1:c.8284C>A, XM_047431151.1:c.8284C>G, XM_047431153.1:c.8284C>A, XM_047431153.1:c.8284C>G, XM_047431150.1:c.8284C>A, XM_047431150.1:c.8284C>G, XM_047431154.1:c.8284C>A, XM_047431154.1:c.8284C>G, XM_047431156.1:c.8284C>A, XM_047431156.1:c.8284C>G, XM_047431155.1:c.8284C>A, XM_047431155.1:c.8284C>G, XM_047431157.1:c.8284C>A, XM_047431157.1:c.8284C>G, XM_047431158.1:c.8284C>A, XM_047431158.1:c.8284C>G, XM_047431159.1:c.8284C>A, XM_047431159.1:c.8284C>G, NP_055995.4:p.Leu2762Ile, NP_055995.4:p.Leu2762Val, NP_878918.2:p.Leu2762Ile, NP_878918.2:p.Leu2762Val, XP_011534878.1:p.Leu2762Ile, XP_011534878.1:p.Leu2762Val, XP_011534877.1:p.Leu2762Ile, XP_011534877.1:p.Leu2762Val, XP_011534882.1:p.Leu2762Ile, XP_011534882.1:p.Leu2762Val, XP_011534879.1:p.Leu2762Ile, XP_011534879.1:p.Leu2762Val, XP_011534886.1:p.Leu2762Ile, XP_011534886.1:p.Leu2762Val, XP_016876590.1:p.Leu2762Ile, XP_016876590.1:p.Leu2762Val, XP_011534876.1:p.Leu2762Ile, XP_011534876.1:p.Leu2762Val, XP_011534880.1:p.Leu2762Ile, XP_011534880.1:p.Leu2762Val, XP_011534881.1:p.Leu2762Ile, XP_011534881.1:p.Leu2762Val, XP_005267511.1:p.Leu2762Ile, XP_005267511.1:p.Leu2762Val, XP_005267513.1:p.Leu2762Ile, XP_005267513.1:p.Leu2762Val, XP_011534883.1:p.Leu2762Ile, XP_011534883.1:p.Leu2762Val, XP_005267514.1:p.Leu2762Ile, XP_005267514.1:p.Leu2762Val, XP_005267515.1:p.Leu2762Ile, XP_005267515.1:p.Leu2762Val, XP_011534884.1:p.Leu2762Ile, XP_011534884.1:p.Leu2762Val, XP_005267516.1:p.Leu2762Ile, XP_005267516.1:p.Leu2762Val, XP_047287108.1:p.Leu2762Ile, XP_047287108.1:p.Leu2762Val, XP_047287105.1:p.Leu2762Ile, XP_047287105.1:p.Leu2762Val, XP_047287107.1:p.Leu2762Ile, XP_047287107.1:p.Leu2762Val, XP_047287109.1:p.Leu2762Ile, XP_047287109.1:p.Leu2762Val, XP_047287106.1:p.Leu2762Ile, XP_047287106.1:p.Leu2762Val, XP_047287110.1:p.Leu2762Ile, XP_047287110.1:p.Leu2762Val, XP_047287112.1:p.Leu2762Ile, XP_047287112.1:p.Leu2762Val, XP_047287111.1:p.Leu2762Ile, XP_047287111.1:p.Leu2762Val, XP_047287113.1:p.Leu2762Ile, XP_047287113.1:p.Leu2762Val, XP_047287114.1:p.Leu2762Ile, XP_047287114.1:p.Leu2762Val, XP_047287115.1:p.Leu2762Ile, XP_047287115.1:p.Leu2762Val

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