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Items: 1 to 20 of 1262

1.

rs1489303606 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:125983893 (GRCh38)
    11:125853788 (GRCh37)
    Canonical SPDI:
    NC_000011.10:125983892:G:A
    Gene:
    CDON (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.00004/10 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.125983893G>A, NC_000011.9:g.125853788G>A, NG_029776.1:g.84400C>T, NM_016952.4:c.2974C>T, NM_016952.5:c.2974C>T, NM_001378964.1:c.2974C>T, NM_001243597.1:c.2974C>T, NM_001243597.2:c.2974C>T, XM_011542862.4:c.2974C>T, XM_011542862.3:c.2974C>T, XM_011542862.2:c.2974C>T, XM_011542862.1:c.2974C>T, XM_011542864.3:c.2974C>T, XM_011542864.2:c.2974C>T, XM_011542864.1:c.2974C>T, XM_011542863.3:c.2974C>T, XM_011542863.2:c.2974C>T, XM_011542863.1:c.2974C>T, XM_011542865.3:c.2974C>T, XM_011542865.2:c.2974C>T, XM_011542865.1:c.2974C>T, XM_017017873.2:c.2974C>T, XM_017017873.1:c.2974C>T, XM_047427060.1:c.2974C>T, XM_047427062.1:c.2974C>T, XM_047427063.1:c.2974C>T, XM_047427061.1:c.2974C>T, XM_047427064.1:c.2974C>T, NP_058648.4:p.Arg992Cys, NP_001365893.1:p.Arg992Cys, NP_001230526.1:p.Arg992Cys, XP_011541164.1:p.Arg992Cys, XP_011541166.1:p.Arg992Cys, XP_011541165.1:p.Arg992Cys, XP_011541167.1:p.Arg992Cys, XP_016873362.1:p.Arg992Cys, XP_047283016.1:p.Arg992Cys, XP_047283018.1:p.Arg992Cys, XP_047283019.1:p.Arg992Cys, XP_047283017.1:p.Arg992Cys, XP_047283020.1:p.Arg992Cys

    2.

    rs1488968807 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:126023419 (GRCh38)
      11:125893314 (GRCh37)
      Canonical SPDI:
      NC_000011.10:126023418:A:G
      Gene:
      CDON (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.126023419A>G, NC_000011.9:g.125893314A>G, NG_029776.1:g.44874T>C, NM_016952.4:c.58T>C, NM_016952.5:c.58T>C, NM_001378964.1:c.58T>C, NM_001243597.1:c.58T>C, NM_001243597.2:c.58T>C, XM_011542862.4:c.58T>C, XM_011542862.3:c.58T>C, XM_011542862.2:c.58T>C, XM_011542862.1:c.58T>C, XM_011542864.3:c.58T>C, XM_011542864.2:c.58T>C, XM_011542864.1:c.58T>C, XM_011542863.3:c.58T>C, XM_011542863.2:c.58T>C, XM_011542863.1:c.58T>C, XM_011542865.3:c.58T>C, XM_011542865.2:c.58T>C, XM_011542865.1:c.58T>C, XM_017017873.2:c.58T>C, XM_017017873.1:c.58T>C, XM_047427060.1:c.58T>C, XM_047427062.1:c.58T>C, XM_047427063.1:c.58T>C, XM_047427061.1:c.58T>C, XM_047427064.1:c.58T>C, XM_047427065.1:c.58T>C, NP_058648.4:p.Cys20Arg, NP_001365893.1:p.Cys20Arg, NP_001230526.1:p.Cys20Arg, XP_011541164.1:p.Cys20Arg, XP_011541166.1:p.Cys20Arg, XP_011541165.1:p.Cys20Arg, XP_011541167.1:p.Cys20Arg, XP_016873362.1:p.Cys20Arg, XP_047283016.1:p.Cys20Arg, XP_047283018.1:p.Cys20Arg, XP_047283019.1:p.Cys20Arg, XP_047283017.1:p.Cys20Arg, XP_047283020.1:p.Cys20Arg, XP_047283021.1:p.Cys20Arg

      3.

      rs1488566899 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        11:126004014 (GRCh38)
        11:125873910 (GRCh37)
        Canonical SPDI:
        NC_000011.10:126004014:TTTT:TTTTT
        Gene:
        CDON (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.126004018dup, NC_000011.9:g.125873913dup, NG_029776.1:g.64278dup, NM_016952.4:c.1913dup, NM_016952.5:c.1913dup, NM_001378964.1:c.1913dup, NM_001243597.1:c.1913dup, NM_001243597.2:c.1913dup, XM_011542862.4:c.1913dup, XM_011542862.3:c.1913dup, XM_011542862.2:c.1913dup, XM_011542862.1:c.1913dup, XM_011542864.3:c.1913dup, XM_011542864.2:c.1913dup, XM_011542864.1:c.1913dup, XM_011542863.3:c.1913dup, XM_011542863.2:c.1913dup, XM_011542863.1:c.1913dup, XM_011542865.3:c.1913dup, XM_011542865.2:c.1913dup, XM_011542865.1:c.1913dup, XM_017017873.2:c.1913dup, XM_017017873.1:c.1913dup, XM_047427060.1:c.1913dup, XM_047427062.1:c.1913dup, XM_047427063.1:c.1913dup, XM_047427061.1:c.1913dup, XM_047427064.1:c.1913dup, XM_047427065.1:c.1913dup, NP_058648.4:p.Asn638fs, NP_001365893.1:p.Asn638fs, NP_001230526.1:p.Asn638fs, XP_011541164.1:p.Asn638fs, XP_011541166.1:p.Asn638fs, XP_011541165.1:p.Asn638fs, XP_011541167.1:p.Asn638fs, XP_016873362.1:p.Asn638fs, XP_047283016.1:p.Asn638fs, XP_047283018.1:p.Asn638fs, XP_047283019.1:p.Asn638fs, XP_047283017.1:p.Asn638fs, XP_047283020.1:p.Asn638fs, XP_047283021.1:p.Asn638fs

        4.

        rs1486766592 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:126010689 (GRCh38)
          11:125880584 (GRCh37)
          Canonical SPDI:
          NC_000011.10:126010688:C:T
          Gene:
          CDON (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          NC_000011.10:g.126010689C>T, NC_000011.9:g.125880584C>T, NG_029776.1:g.57604G>A, NM_016952.4:c.1204G>A, NM_016952.5:c.1204G>A, NM_001378964.1:c.1204G>A, NM_001243597.1:c.1204G>A, NM_001243597.2:c.1204G>A, XM_011542862.4:c.1204G>A, XM_011542862.3:c.1204G>A, XM_011542862.2:c.1204G>A, XM_011542862.1:c.1204G>A, XM_011542864.3:c.1204G>A, XM_011542864.2:c.1204G>A, XM_011542864.1:c.1204G>A, XM_011542863.3:c.1204G>A, XM_011542863.2:c.1204G>A, XM_011542863.1:c.1204G>A, XM_011542865.3:c.1204G>A, XM_011542865.2:c.1204G>A, XM_011542865.1:c.1204G>A, XM_017017873.2:c.1204G>A, XM_017017873.1:c.1204G>A, XM_047427060.1:c.1204G>A, XM_047427062.1:c.1204G>A, XM_047427063.1:c.1204G>A, XM_047427061.1:c.1204G>A, XM_047427064.1:c.1204G>A, XM_047427065.1:c.1204G>A, NP_058648.4:p.Gly402Arg, NP_001365893.1:p.Gly402Arg, NP_001230526.1:p.Gly402Arg, XP_011541164.1:p.Gly402Arg, XP_011541166.1:p.Gly402Arg, XP_011541165.1:p.Gly402Arg, XP_011541167.1:p.Gly402Arg, XP_016873362.1:p.Gly402Arg, XP_047283016.1:p.Gly402Arg, XP_047283018.1:p.Gly402Arg, XP_047283019.1:p.Gly402Arg, XP_047283017.1:p.Gly402Arg, XP_047283020.1:p.Gly402Arg, XP_047283021.1:p.Gly402Arg

          5.

          rs1486752391 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            11:126017091 (GRCh38)
            11:125886986 (GRCh37)
            Canonical SPDI:
            NC_000011.10:126017090:G:A,NC_000011.10:126017090:G:C
            Gene:
            CDON (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            C=0.000035/1 (TOMMO)
            HGVS:
            NC_000011.10:g.126017091G>A, NC_000011.10:g.126017091G>C, NC_000011.9:g.125886986G>A, NC_000011.9:g.125886986G>C, NG_029776.1:g.51202C>T, NG_029776.1:g.51202C>G, NM_016952.4:c.925C>T, NM_016952.4:c.925C>G, NM_016952.5:c.925C>T, NM_016952.5:c.925C>G, NM_001378964.1:c.925C>T, NM_001378964.1:c.925C>G, NM_001243597.1:c.925C>T, NM_001243597.1:c.925C>G, NM_001243597.2:c.925C>T, NM_001243597.2:c.925C>G, XM_011542862.4:c.925C>T, XM_011542862.4:c.925C>G, XM_011542862.3:c.925C>T, XM_011542862.3:c.925C>G, XM_011542862.2:c.925C>T, XM_011542862.2:c.925C>G, XM_011542862.1:c.925C>T, XM_011542862.1:c.925C>G, XM_011542864.3:c.925C>T, XM_011542864.3:c.925C>G, XM_011542864.2:c.925C>T, XM_011542864.2:c.925C>G, XM_011542864.1:c.925C>T, XM_011542864.1:c.925C>G, XM_011542863.3:c.925C>T, XM_011542863.3:c.925C>G, XM_011542863.2:c.925C>T, XM_011542863.2:c.925C>G, XM_011542863.1:c.925C>T, XM_011542863.1:c.925C>G, XM_011542865.3:c.925C>T, XM_011542865.3:c.925C>G, XM_011542865.2:c.925C>T, XM_011542865.2:c.925C>G, XM_011542865.1:c.925C>T, XM_011542865.1:c.925C>G, XM_017017873.2:c.925C>T, XM_017017873.2:c.925C>G, XM_017017873.1:c.925C>T, XM_017017873.1:c.925C>G, XM_047427060.1:c.925C>T, XM_047427060.1:c.925C>G, XM_047427062.1:c.925C>T, XM_047427062.1:c.925C>G, XM_047427063.1:c.925C>T, XM_047427063.1:c.925C>G, XM_047427061.1:c.925C>T, XM_047427061.1:c.925C>G, XM_047427064.1:c.925C>T, XM_047427064.1:c.925C>G, XM_047427065.1:c.925C>T, XM_047427065.1:c.925C>G, NP_058648.4:p.Leu309Phe, NP_058648.4:p.Leu309Val, NP_001365893.1:p.Leu309Phe, NP_001365893.1:p.Leu309Val, NP_001230526.1:p.Leu309Phe, NP_001230526.1:p.Leu309Val, XP_011541164.1:p.Leu309Phe, XP_011541164.1:p.Leu309Val, XP_011541166.1:p.Leu309Phe, XP_011541166.1:p.Leu309Val, XP_011541165.1:p.Leu309Phe, XP_011541165.1:p.Leu309Val, XP_011541167.1:p.Leu309Phe, XP_011541167.1:p.Leu309Val, XP_016873362.1:p.Leu309Phe, XP_016873362.1:p.Leu309Val, XP_047283016.1:p.Leu309Phe, XP_047283016.1:p.Leu309Val, XP_047283018.1:p.Leu309Phe, XP_047283018.1:p.Leu309Val, XP_047283019.1:p.Leu309Phe, XP_047283019.1:p.Leu309Val, XP_047283017.1:p.Leu309Phe, XP_047283017.1:p.Leu309Val, XP_047283020.1:p.Leu309Phe, XP_047283020.1:p.Leu309Val, XP_047283021.1:p.Leu309Phe, XP_047283021.1:p.Leu309Val

            6.

            rs1486231190 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              11:125961912 (GRCh38)
              11:125831807 (GRCh37)
              Canonical SPDI:
              NC_000011.10:125961911:T:A
              Gene:
              CDON (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000011.10:g.125961912T>A, NC_000011.9:g.125831807T>A, NG_029776.1:g.106381A>T, NM_016952.4:c.3443A>T, NM_016952.5:c.3443A>T, NM_001378964.1:c.3443A>T, NM_001243597.1:c.3443A>T, NM_001243597.2:c.3443A>T, XM_011542862.4:c.3443A>T, XM_011542862.3:c.3443A>T, XM_011542862.2:c.3443A>T, XM_011542862.1:c.3443A>T, XM_011542864.3:c.3443A>T, XM_011542864.2:c.3443A>T, XM_011542864.1:c.3443A>T, XM_011542863.3:c.3443A>T, XM_011542863.2:c.3443A>T, XM_011542863.1:c.3443A>T, XM_011542865.3:c.3443A>T, XM_011542865.2:c.3443A>T, XM_011542865.1:c.3443A>T, XM_017017873.2:c.3443A>T, XM_017017873.1:c.3443A>T, XM_047427060.1:c.3443A>T, XM_047427062.1:c.3443A>T, XM_047427063.1:c.3443A>T, XM_047427061.1:c.3443A>T, XM_047427064.1:c.3443A>T, NP_058648.4:p.Glu1148Val, NP_001365893.1:p.Glu1148Val, NP_001230526.1:p.Glu1148Val, XP_011541164.1:p.Glu1148Val, XP_011541166.1:p.Glu1148Val, XP_011541165.1:p.Glu1148Val, XP_011541167.1:p.Glu1148Val, XP_016873362.1:p.Glu1148Val, XP_047283016.1:p.Glu1148Val, XP_047283018.1:p.Glu1148Val, XP_047283019.1:p.Glu1148Val, XP_047283017.1:p.Glu1148Val, XP_047283020.1:p.Glu1148Val

              7.

              rs1485564994 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:125978311 (GRCh38)
                11:125848206 (GRCh37)
                Canonical SPDI:
                NC_000011.10:125978310:T:C
                Gene:
                CDON (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000084/1 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000011.10:g.125978311T>C, NC_000011.9:g.125848206T>C, NG_029776.1:g.89982A>G, NM_016952.4:c.3349A>G, NM_016952.5:c.3349A>G, NM_001378964.1:c.3349A>G, NM_001243597.1:c.3349A>G, NM_001243597.2:c.3349A>G, XM_011542862.4:c.3349A>G, XM_011542862.3:c.3349A>G, XM_011542862.2:c.3349A>G, XM_011542862.1:c.3349A>G, XM_011542864.3:c.3349A>G, XM_011542864.2:c.3349A>G, XM_011542864.1:c.3349A>G, XM_011542863.3:c.3349A>G, XM_011542863.2:c.3349A>G, XM_011542863.1:c.3349A>G, XM_011542865.3:c.3349A>G, XM_011542865.2:c.3349A>G, XM_011542865.1:c.3349A>G, XM_017017873.2:c.3349A>G, XM_017017873.1:c.3349A>G, XM_047427060.1:c.3349A>G, XM_047427062.1:c.3349A>G, XM_047427063.1:c.3349A>G, XM_047427061.1:c.3349A>G, XM_047427064.1:c.3349A>G, NP_058648.4:p.Asn1117Asp, NP_001365893.1:p.Asn1117Asp, NP_001230526.1:p.Asn1117Asp, XP_011541164.1:p.Asn1117Asp, XP_011541166.1:p.Asn1117Asp, XP_011541165.1:p.Asn1117Asp, XP_011541167.1:p.Asn1117Asp, XP_016873362.1:p.Asn1117Asp, XP_047283016.1:p.Asn1117Asp, XP_047283018.1:p.Asn1117Asp, XP_047283019.1:p.Asn1117Asp, XP_047283017.1:p.Asn1117Asp, XP_047283020.1:p.Asn1117Asp

                8.

                rs1484508740 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  11:125997358 (GRCh38)
                  11:125867253 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:125997357:G:A,NC_000011.10:125997357:G:C
                  Gene:
                  CDON (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000011.10:g.125997358G>A, NC_000011.10:g.125997358G>C, NC_000011.9:g.125867253G>A, NC_000011.9:g.125867253G>C, NG_029776.1:g.70935C>T, NG_029776.1:g.70935C>G, NM_016952.4:c.2211C>T, NM_016952.4:c.2211C>G, NM_016952.5:c.2211C>T, NM_016952.5:c.2211C>G, NM_001378964.1:c.2211C>T, NM_001378964.1:c.2211C>G, NM_001243597.1:c.2211C>T, NM_001243597.1:c.2211C>G, NM_001243597.2:c.2211C>T, NM_001243597.2:c.2211C>G, XM_011542862.4:c.2211C>T, XM_011542862.4:c.2211C>G, XM_011542862.3:c.2211C>T, XM_011542862.3:c.2211C>G, XM_011542862.2:c.2211C>T, XM_011542862.2:c.2211C>G, XM_011542862.1:c.2211C>T, XM_011542862.1:c.2211C>G, XM_011542864.3:c.2211C>T, XM_011542864.3:c.2211C>G, XM_011542864.2:c.2211C>T, XM_011542864.2:c.2211C>G, XM_011542864.1:c.2211C>T, XM_011542864.1:c.2211C>G, XM_011542863.3:c.2211C>T, XM_011542863.3:c.2211C>G, XM_011542863.2:c.2211C>T, XM_011542863.2:c.2211C>G, XM_011542863.1:c.2211C>T, XM_011542863.1:c.2211C>G, XM_011542865.3:c.2211C>T, XM_011542865.3:c.2211C>G, XM_011542865.2:c.2211C>T, XM_011542865.2:c.2211C>G, XM_011542865.1:c.2211C>T, XM_011542865.1:c.2211C>G, XM_017017873.2:c.2211C>T, XM_017017873.2:c.2211C>G, XM_017017873.1:c.2211C>T, XM_017017873.1:c.2211C>G, XM_047427060.1:c.2211C>T, XM_047427060.1:c.2211C>G, XM_047427062.1:c.2211C>T, XM_047427062.1:c.2211C>G, XM_047427063.1:c.2211C>T, XM_047427063.1:c.2211C>G, XM_047427061.1:c.2211C>T, XM_047427061.1:c.2211C>G, XM_047427064.1:c.2211C>T, XM_047427064.1:c.2211C>G, XM_047427065.1:c.2218C>T, XM_047427065.1:c.2218C>G, XP_047283021.1:p.Leu740Val

                  9.

                  rs1484224734 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:126021417 (GRCh38)
                    11:125891312 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:126021416:T:C
                    Gene:
                    CDON (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1483718896 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:125983975 (GRCh38)
                      11:125853870 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:125983974:C:T
                      Gene:
                      CDON (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.125983975C>T, NC_000011.9:g.125853870C>T, NG_029776.1:g.84318G>A, NM_016952.4:c.2892G>A, NM_016952.5:c.2892G>A, NM_001378964.1:c.2892G>A, NM_001243597.1:c.2892G>A, NM_001243597.2:c.2892G>A, XM_011542862.4:c.2892G>A, XM_011542862.3:c.2892G>A, XM_011542862.2:c.2892G>A, XM_011542862.1:c.2892G>A, XM_011542864.3:c.2892G>A, XM_011542864.2:c.2892G>A, XM_011542864.1:c.2892G>A, XM_011542863.3:c.2892G>A, XM_011542863.2:c.2892G>A, XM_011542863.1:c.2892G>A, XM_011542865.3:c.2892G>A, XM_011542865.2:c.2892G>A, XM_011542865.1:c.2892G>A, XM_017017873.2:c.2892G>A, XM_017017873.1:c.2892G>A, XM_047427060.1:c.2892G>A, XM_047427062.1:c.2892G>A, XM_047427063.1:c.2892G>A, XM_047427061.1:c.2892G>A, XM_047427064.1:c.2892G>A, NP_058648.4:p.Met964Ile, NP_001365893.1:p.Met964Ile, NP_001230526.1:p.Met964Ile, XP_011541164.1:p.Met964Ile, XP_011541166.1:p.Met964Ile, XP_011541165.1:p.Met964Ile, XP_011541167.1:p.Met964Ile, XP_016873362.1:p.Met964Ile, XP_047283016.1:p.Met964Ile, XP_047283018.1:p.Met964Ile, XP_047283019.1:p.Met964Ile, XP_047283017.1:p.Met964Ile, XP_047283020.1:p.Met964Ile

                      11.

                      rs1482284270 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:126018370 (GRCh38)
                        11:125888265 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:126018369:T:C
                        Gene:
                        CDON (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1482281534 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:126010603 (GRCh38)
                          11:125880498 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:126010602:C:T
                          Gene:
                          CDON (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1481847684 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            11:126015281 (GRCh38)
                            11:125885176 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:126015280:A:C
                            Gene:
                            CDON (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000011.10:g.126015281A>C, NC_000011.9:g.125885176A>C, NG_029776.1:g.53012T>G, NM_016952.4:c.1158T>G, NM_016952.5:c.1158T>G, NM_001378964.1:c.1158T>G, NM_001243597.1:c.1158T>G, NM_001243597.2:c.1158T>G, XM_011542862.4:c.1158T>G, XM_011542862.3:c.1158T>G, XM_011542862.2:c.1158T>G, XM_011542862.1:c.1158T>G, XM_011542864.3:c.1158T>G, XM_011542864.2:c.1158T>G, XM_011542864.1:c.1158T>G, XM_011542863.3:c.1158T>G, XM_011542863.2:c.1158T>G, XM_011542863.1:c.1158T>G, XM_011542865.3:c.1158T>G, XM_011542865.2:c.1158T>G, XM_011542865.1:c.1158T>G, XM_017017873.2:c.1158T>G, XM_017017873.1:c.1158T>G, XM_047427060.1:c.1158T>G, XM_047427062.1:c.1158T>G, XM_047427063.1:c.1158T>G, XM_047427061.1:c.1158T>G, XM_047427064.1:c.1158T>G, XM_047427065.1:c.1158T>G, NP_058648.4:p.Ile386Met, NP_001365893.1:p.Ile386Met, NP_001230526.1:p.Ile386Met, XP_011541164.1:p.Ile386Met, XP_011541166.1:p.Ile386Met, XP_011541165.1:p.Ile386Met, XP_011541167.1:p.Ile386Met, XP_016873362.1:p.Ile386Met, XP_047283016.1:p.Ile386Met, XP_047283018.1:p.Ile386Met, XP_047283019.1:p.Ile386Met, XP_047283017.1:p.Ile386Met, XP_047283020.1:p.Ile386Met, XP_047283021.1:p.Ile386Met

                            14.

                            rs1481765195 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:126006002 (GRCh38)
                              11:125875897 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:126006001:C:T
                              Gene:
                              CDON (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1479989353 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:125961671 (GRCh38)
                                11:125831566 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:125961670:C:T
                                Gene:
                                CDON (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1477006684 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:126019735 (GRCh38)
                                  11:125889630 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:126019734:T:C
                                  Gene:
                                  CDON (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.126019735T>C, NC_000011.9:g.125889630T>C, NG_029776.1:g.48558A>G, NM_016952.4:c.380A>G, NM_016952.5:c.380A>G, NM_001378964.1:c.380A>G, NM_001243597.1:c.380A>G, NM_001243597.2:c.380A>G, XM_011542862.4:c.380A>G, XM_011542862.3:c.380A>G, XM_011542862.2:c.380A>G, XM_011542862.1:c.380A>G, XM_011542864.3:c.380A>G, XM_011542864.2:c.380A>G, XM_011542864.1:c.380A>G, XM_011542863.3:c.380A>G, XM_011542863.2:c.380A>G, XM_011542863.1:c.380A>G, XM_011542865.3:c.380A>G, XM_011542865.2:c.380A>G, XM_011542865.1:c.380A>G, XM_017017873.2:c.380A>G, XM_017017873.1:c.380A>G, XM_047427060.1:c.380A>G, XM_047427062.1:c.380A>G, XM_047427063.1:c.380A>G, XM_047427061.1:c.380A>G, XM_047427064.1:c.380A>G, XM_047427065.1:c.380A>G, NP_058648.4:p.His127Arg, NP_001365893.1:p.His127Arg, NP_001230526.1:p.His127Arg, XP_011541164.1:p.His127Arg, XP_011541166.1:p.His127Arg, XP_011541165.1:p.His127Arg, XP_011541167.1:p.His127Arg, XP_016873362.1:p.His127Arg, XP_047283016.1:p.His127Arg, XP_047283018.1:p.His127Arg, XP_047283019.1:p.His127Arg, XP_047283017.1:p.His127Arg, XP_047283020.1:p.His127Arg, XP_047283021.1:p.His127Arg

                                  17.

                                  rs1476973615 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    11:126017172 (GRCh38)
                                    11:125887067 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:126017171:G:T
                                    Gene:
                                    CDON (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.126017172G>T, NC_000011.9:g.125887067G>T, NG_029776.1:g.51121C>A, NM_016952.4:c.844C>A, NM_016952.5:c.844C>A, NM_001378964.1:c.844C>A, NM_001243597.1:c.844C>A, NM_001243597.2:c.844C>A, XM_011542862.4:c.844C>A, XM_011542862.3:c.844C>A, XM_011542862.2:c.844C>A, XM_011542862.1:c.844C>A, XM_011542864.3:c.844C>A, XM_011542864.2:c.844C>A, XM_011542864.1:c.844C>A, XM_011542863.3:c.844C>A, XM_011542863.2:c.844C>A, XM_011542863.1:c.844C>A, XM_011542865.3:c.844C>A, XM_011542865.2:c.844C>A, XM_011542865.1:c.844C>A, XM_017017873.2:c.844C>A, XM_017017873.1:c.844C>A, XM_047427060.1:c.844C>A, XM_047427062.1:c.844C>A, XM_047427063.1:c.844C>A, XM_047427061.1:c.844C>A, XM_047427064.1:c.844C>A, XM_047427065.1:c.844C>A, NP_058648.4:p.Pro282Thr, NP_001365893.1:p.Pro282Thr, NP_001230526.1:p.Pro282Thr, XP_011541164.1:p.Pro282Thr, XP_011541166.1:p.Pro282Thr, XP_011541165.1:p.Pro282Thr, XP_011541167.1:p.Pro282Thr, XP_016873362.1:p.Pro282Thr, XP_047283016.1:p.Pro282Thr, XP_047283018.1:p.Pro282Thr, XP_047283019.1:p.Pro282Thr, XP_047283017.1:p.Pro282Thr, XP_047283020.1:p.Pro282Thr, XP_047283021.1:p.Pro282Thr

                                    18.

                                    rs1476875663 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:125981299 (GRCh38)
                                      11:125851194 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:125981298:C:T
                                      Gene:
                                      CDON (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000011.10:g.125981299C>T, NC_000011.9:g.125851194C>T, NG_029776.1:g.86994G>A, NM_016952.4:c.3026G>A, NM_016952.5:c.3026G>A, NM_001378964.1:c.3026G>A, NM_001243597.1:c.3026G>A, NM_001243597.2:c.3026G>A, XM_011542862.4:c.3026G>A, XM_011542862.3:c.3026G>A, XM_011542862.2:c.3026G>A, XM_011542862.1:c.3026G>A, XM_011542864.3:c.3026G>A, XM_011542864.2:c.3026G>A, XM_011542864.1:c.3026G>A, XM_011542863.3:c.3026G>A, XM_011542863.2:c.3026G>A, XM_011542863.1:c.3026G>A, XM_011542865.3:c.3026G>A, XM_011542865.2:c.3026G>A, XM_011542865.1:c.3026G>A, XM_017017873.2:c.3026G>A, XM_017017873.1:c.3026G>A, XM_047427060.1:c.3026G>A, XM_047427062.1:c.3026G>A, XM_047427063.1:c.3026G>A, XM_047427061.1:c.3026G>A, XM_047427064.1:c.3026G>A, NP_058648.4:p.Gly1009Glu, NP_001365893.1:p.Gly1009Glu, NP_001230526.1:p.Gly1009Glu, XP_011541164.1:p.Gly1009Glu, XP_011541166.1:p.Gly1009Glu, XP_011541165.1:p.Gly1009Glu, XP_011541167.1:p.Gly1009Glu, XP_016873362.1:p.Gly1009Glu, XP_047283016.1:p.Gly1009Glu, XP_047283018.1:p.Gly1009Glu, XP_047283019.1:p.Gly1009Glu, XP_047283017.1:p.Gly1009Glu, XP_047283020.1:p.Gly1009Glu

                                      19.

                                      rs1475949375 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        11:126021349 (GRCh38)
                                        11:125891244 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:126021348:G:C
                                        Gene:
                                        CDON (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.126021349G>C, NC_000011.9:g.125891244G>C, NG_029776.1:g.46944C>G, NM_016952.4:c.248C>G, NM_016952.5:c.248C>G, NM_001378964.1:c.248C>G, NM_001243597.1:c.248C>G, NM_001243597.2:c.248C>G, XM_011542862.4:c.248C>G, XM_011542862.3:c.248C>G, XM_011542862.2:c.248C>G, XM_011542862.1:c.248C>G, XM_011542864.3:c.248C>G, XM_011542864.2:c.248C>G, XM_011542864.1:c.248C>G, XM_011542863.3:c.248C>G, XM_011542863.2:c.248C>G, XM_011542863.1:c.248C>G, XM_011542865.3:c.248C>G, XM_011542865.2:c.248C>G, XM_011542865.1:c.248C>G, XM_017017873.2:c.248C>G, XM_017017873.1:c.248C>G, XM_047427060.1:c.248C>G, XM_047427062.1:c.248C>G, XM_047427063.1:c.248C>G, XM_047427061.1:c.248C>G, XM_047427064.1:c.248C>G, XM_047427065.1:c.248C>G, NP_058648.4:p.Thr83Arg, NP_001365893.1:p.Thr83Arg, NP_001230526.1:p.Thr83Arg, XP_011541164.1:p.Thr83Arg, XP_011541166.1:p.Thr83Arg, XP_011541165.1:p.Thr83Arg, XP_011541167.1:p.Thr83Arg, XP_016873362.1:p.Thr83Arg, XP_047283016.1:p.Thr83Arg, XP_047283018.1:p.Thr83Arg, XP_047283019.1:p.Thr83Arg, XP_047283017.1:p.Thr83Arg, XP_047283020.1:p.Thr83Arg, XP_047283021.1:p.Thr83Arg

                                        20.

                                        rs1475911989 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:125997342 (GRCh38)
                                          11:125867237 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:125997341:G:A
                                          Gene:
                                          CDON (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.125997342G>A, NC_000011.9:g.125867237G>A, NG_029776.1:g.70951C>T, NM_016952.4:c.2227C>T, NM_016952.5:c.2227C>T, NM_001378964.1:c.2227C>T, NM_001243597.1:c.2227C>T, NM_001243597.2:c.2227C>T, XM_011542862.4:c.2227C>T, XM_011542862.3:c.2227C>T, XM_011542862.2:c.2227C>T, XM_011542862.1:c.2227C>T, XM_011542864.3:c.2227C>T, XM_011542864.2:c.2227C>T, XM_011542864.1:c.2227C>T, XM_011542863.3:c.2227C>T, XM_011542863.2:c.2227C>T, XM_011542863.1:c.2227C>T, XM_011542865.3:c.2227C>T, XM_011542865.2:c.2227C>T, XM_011542865.1:c.2227C>T, XM_017017873.2:c.2227C>T, XM_017017873.1:c.2227C>T, XM_047427060.1:c.2227C>T, XM_047427062.1:c.2227C>T, XM_047427063.1:c.2227C>T, XM_047427061.1:c.2227C>T, XM_047427064.1:c.2227C>T, XM_047427065.1:c.2234C>T, NP_058648.4:p.Pro743Ser, NP_001365893.1:p.Pro743Ser, NP_001230526.1:p.Pro743Ser, XP_011541164.1:p.Pro743Ser, XP_011541166.1:p.Pro743Ser, XP_011541165.1:p.Pro743Ser, XP_011541167.1:p.Pro743Ser, XP_016873362.1:p.Pro743Ser, XP_047283016.1:p.Pro743Ser, XP_047283018.1:p.Pro743Ser, XP_047283019.1:p.Pro743Ser, XP_047283017.1:p.Pro743Ser, XP_047283020.1:p.Pro743Ser, XP_047283021.1:p.Ser745Phe

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