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Items: 1 to 20 of 669

1.

rs1488657375 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    9:128460635 (GRCh38)
    9:131222914 (GRCh37)
    Canonical SPDI:
    NC_000009.12:128460634:A:G
    Gene:
    ODF2 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000009.12:g.128460635A>G, NC_000009.11:g.131222914A>G, NG_029568.1:g.10481A>G, NM_002540.4:c.77A>G, NM_002540.5:c.77A>G, NM_001351580.1:c.77A>G, NM_001351580.2:c.77A>G, NM_001351585.1:c.77A>G, NM_001351585.2:c.77A>G, NM_001351582.1:c.209A>G, NM_001351582.2:c.209A>G, NM_001351579.1:c.77A>G, NM_001351579.2:c.77A>G, NM_001351577.1:c.341A>G, NM_001351583.1:c.77A>G, NM_001351583.2:c.77A>G, NM_001242352.1:c.77A>G, NM_001242352.2:c.77A>G, NM_001351578.1:c.341A>G, NM_001351578.2:c.341A>G, NM_001351586.1:c.77A>G, NM_001351586.2:c.77A>G, NM_153435.1:c.341A>G, NM_001351587.1:c.77A>G, NM_001351587.2:c.77A>G, NM_001351584.1:c.77A>G, NM_001351584.2:c.77A>G, NM_001351588.1:c.77A>G, NM_001351588.2:c.77A>G, NM_001242354.1:c.77A>G, NM_001242354.2:c.77A>G, NR_036755.1:n.809A>G, NR_036757.1:n.464A>G, NR_036754.1:n.464A>G, NP_002531.3:p.Lys26Arg, NP_001338509.1:p.Lys26Arg, NP_001338514.1:p.Lys26Arg, NP_001338511.1:p.Lys70Arg, NP_001338508.1:p.Lys26Arg, NP_001338506.1:p.Lys114Arg, NP_001338512.1:p.Lys26Arg, NP_001229281.1:p.Lys26Arg, NP_001338507.1:p.Lys114Arg, NP_001338515.1:p.Lys26Arg, NP_702913.1:p.Lys114Arg, NP_001338516.1:p.Lys26Arg, NP_001338513.1:p.Lys26Arg, NP_001338517.1:p.Lys26Arg, NP_001229283.1:p.Lys26Arg

    2.

    rs1487783616 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:128492750 (GRCh38)
      9:131255029 (GRCh37)
      Canonical SPDI:
      NC_000009.12:128492749:G:A
      Gene:
      ODF2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000009.12:g.128492750G>A, NC_000009.11:g.131255029G>A, NG_029568.1:g.42596G>A, NM_002540.4:c.1625G>A, NM_002540.5:c.1625G>A, NM_153437.2:c.1640G>A, NM_153437.3:c.1640G>A, NM_001351580.1:c.1682G>A, NM_001351580.2:c.1682G>A, NM_001351585.1:c.1682G>A, NM_001351585.2:c.1682G>A, NM_001351582.1:c.1814G>A, NM_001351582.2:c.1814G>A, NM_001351579.1:c.1682G>A, NM_001351579.2:c.1682G>A, NM_001351577.1:c.1946G>A, NM_001351583.1:c.1625G>A, NM_001351583.2:c.1625G>A, NM_001242353.1:c.1697G>A, NM_001242353.2:c.1697G>A, NM_153433.1:c.1697G>A, NM_153433.2:c.1697G>A, NM_001242352.1:c.1682G>A, NM_001242352.2:c.1682G>A, NM_001351578.1:c.1946G>A, NM_001351578.2:c.1946G>A, NM_001351586.1:c.1625G>A, NM_001351586.2:c.1625G>A, NM_153435.1:c.1889G>A, NM_001351581.1:c.1829G>A, NM_001351587.1:c.1511G>A, NM_001351587.2:c.1511G>A, NM_001351584.1:c.1682G>A, NM_001351584.2:c.1682G>A, NM_001351588.1:c.1454G>A, NM_001351588.2:c.1454G>A, NM_153432.1:c.1829G>A, NM_001242354.1:c.1454G>A, NM_001242354.2:c.1454G>A, NM_153440.1:c.1640G>A, NM_153440.2:c.1640G>A, NM_153439.1:c.1772G>A, NM_153436.1:c.1697G>A, NM_153436.2:c.1697G>A, NR_036755.1:n.2357G>A, NR_036756.1:n.2155G>A, NR_036757.1:n.2069G>A, NR_036754.1:n.1841G>A, NP_002531.3:p.Arg542His, NP_702915.1:p.Arg547His, NP_001338509.1:p.Arg561His, NP_001338514.1:p.Arg561His, NP_001338511.1:p.Arg605His, NP_001338508.1:p.Arg561His, NP_001338506.1:p.Arg649His, NP_001338512.1:p.Arg542His, NP_001229282.1:p.Arg566His, NP_702911.1:p.Arg566His, NP_001229281.1:p.Arg561His, NP_001338507.1:p.Arg649His, NP_001338515.1:p.Arg542His, NP_702913.1:p.Arg630His, NP_001338510.1:p.Arg610His, NP_001338516.1:p.Arg504His, NP_001338513.1:p.Arg561His, NP_001338517.1:p.Arg485His, NP_702910.1:p.Arg610His, NP_001229283.1:p.Arg485His, NP_702918.1:p.Arg547His, NP_702917.1:p.Arg591His, NP_702914.1:p.Arg566His

      3.

      rs1487425959 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        9:128492743 (GRCh38)
        9:131255022 (GRCh37)
        Canonical SPDI:
        NC_000009.12:128492742:C:G,NC_000009.12:128492742:C:T
        Gene:
        ODF2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000051/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.128492743C>G, NC_000009.12:g.128492743C>T, NC_000009.11:g.131255022C>G, NC_000009.11:g.131255022C>T, NG_029568.1:g.42589C>G, NG_029568.1:g.42589C>T, NM_002540.4:c.1618C>G, NM_002540.4:c.1618C>T, NM_002540.5:c.1618C>G, NM_002540.5:c.1618C>T, NM_153437.2:c.1633C>G, NM_153437.2:c.1633C>T, NM_153437.3:c.1633C>G, NM_153437.3:c.1633C>T, NM_001351580.1:c.1675C>G, NM_001351580.1:c.1675C>T, NM_001351580.2:c.1675C>G, NM_001351580.2:c.1675C>T, NM_001351585.1:c.1675C>G, NM_001351585.1:c.1675C>T, NM_001351585.2:c.1675C>G, NM_001351585.2:c.1675C>T, NM_001351582.1:c.1807C>G, NM_001351582.1:c.1807C>T, NM_001351582.2:c.1807C>G, NM_001351582.2:c.1807C>T, NM_001351579.1:c.1675C>G, NM_001351579.1:c.1675C>T, NM_001351579.2:c.1675C>G, NM_001351579.2:c.1675C>T, NM_001351577.1:c.1939C>G, NM_001351577.1:c.1939C>T, NM_001351583.1:c.1618C>G, NM_001351583.1:c.1618C>T, NM_001351583.2:c.1618C>G, NM_001351583.2:c.1618C>T, NM_001242353.1:c.1690C>G, NM_001242353.1:c.1690C>T, NM_001242353.2:c.1690C>G, NM_001242353.2:c.1690C>T, NM_153433.1:c.1690C>G, NM_153433.1:c.1690C>T, NM_153433.2:c.1690C>G, NM_153433.2:c.1690C>T, NM_001242352.1:c.1675C>G, NM_001242352.1:c.1675C>T, NM_001242352.2:c.1675C>G, NM_001242352.2:c.1675C>T, NM_001351578.1:c.1939C>G, NM_001351578.1:c.1939C>T, NM_001351578.2:c.1939C>G, NM_001351578.2:c.1939C>T, NM_001351586.1:c.1618C>G, NM_001351586.1:c.1618C>T, NM_001351586.2:c.1618C>G, NM_001351586.2:c.1618C>T, NM_153435.1:c.1882C>G, NM_153435.1:c.1882C>T, NM_001351581.1:c.1822C>G, NM_001351581.1:c.1822C>T, NM_001351587.1:c.1504C>G, NM_001351587.1:c.1504C>T, NM_001351587.2:c.1504C>G, NM_001351587.2:c.1504C>T, NM_001351584.1:c.1675C>G, NM_001351584.1:c.1675C>T, NM_001351584.2:c.1675C>G, NM_001351584.2:c.1675C>T, NM_001351588.1:c.1447C>G, NM_001351588.1:c.1447C>T, NM_001351588.2:c.1447C>G, NM_001351588.2:c.1447C>T, NM_153432.1:c.1822C>G, NM_153432.1:c.1822C>T, NM_001242354.1:c.1447C>G, NM_001242354.1:c.1447C>T, NM_001242354.2:c.1447C>G, NM_001242354.2:c.1447C>T, NM_153440.1:c.1633C>G, NM_153440.1:c.1633C>T, NM_153440.2:c.1633C>G, NM_153440.2:c.1633C>T, NM_153439.1:c.1765C>G, NM_153439.1:c.1765C>T, NM_153436.1:c.1690C>G, NM_153436.1:c.1690C>T, NM_153436.2:c.1690C>G, NM_153436.2:c.1690C>T, NR_036755.1:n.2350C>G, NR_036755.1:n.2350C>T, NR_036756.1:n.2148C>G, NR_036756.1:n.2148C>T, NR_036757.1:n.2062C>G, NR_036757.1:n.2062C>T, NR_036754.1:n.1834C>G, NR_036754.1:n.1834C>T, NP_002531.3:p.Leu540Val, NP_702915.1:p.Leu545Val, NP_001338509.1:p.Leu559Val, NP_001338514.1:p.Leu559Val, NP_001338511.1:p.Leu603Val, NP_001338508.1:p.Leu559Val, NP_001338506.1:p.Leu647Val, NP_001338512.1:p.Leu540Val, NP_001229282.1:p.Leu564Val, NP_702911.1:p.Leu564Val, NP_001229281.1:p.Leu559Val, NP_001338507.1:p.Leu647Val, NP_001338515.1:p.Leu540Val, NP_702913.1:p.Leu628Val, NP_001338510.1:p.Leu608Val, NP_001338516.1:p.Leu502Val, NP_001338513.1:p.Leu559Val, NP_001338517.1:p.Leu483Val, NP_702910.1:p.Leu608Val, NP_001229283.1:p.Leu483Val, NP_702918.1:p.Leu545Val, NP_702917.1:p.Leu589Val, NP_702914.1:p.Leu564Val

        4.

        rs1486025108 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,G [Show Flanks]
          Chromosome:
          9:128473677 (GRCh38)
          9:131235956 (GRCh37)
          Canonical SPDI:
          NC_000009.12:128473676:T:A,NC_000009.12:128473676:T:G
          Gene:
          ODF2 (Varview), ODF2-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000009.12:g.128473677T>A, NC_000009.12:g.128473677T>G, NC_000009.11:g.131235956T>A, NC_000009.11:g.131235956T>G, NG_029568.1:g.23523T>A, NG_029568.1:g.23523T>G, NM_002540.4:c.707T>A, NM_002540.4:c.707T>G, NM_002540.5:c.707T>A, NM_002540.5:c.707T>G, NM_153437.2:c.722T>A, NM_153437.2:c.722T>G, NM_153437.3:c.722T>A, NM_153437.3:c.722T>G, NM_001351580.1:c.764T>A, NM_001351580.1:c.764T>G, NM_001351580.2:c.764T>A, NM_001351580.2:c.764T>G, NM_001351585.1:c.764T>A, NM_001351585.1:c.764T>G, NM_001351585.2:c.764T>A, NM_001351585.2:c.764T>G, NM_001351582.1:c.896T>A, NM_001351582.1:c.896T>G, NM_001351582.2:c.896T>A, NM_001351582.2:c.896T>G, NM_001351579.1:c.764T>A, NM_001351579.1:c.764T>G, NM_001351579.2:c.764T>A, NM_001351579.2:c.764T>G, NM_001351577.1:c.1028T>A, NM_001351577.1:c.1028T>G, NM_001351583.1:c.707T>A, NM_001351583.1:c.707T>G, NM_001351583.2:c.707T>A, NM_001351583.2:c.707T>G, NM_001242353.1:c.779T>A, NM_001242353.1:c.779T>G, NM_001242353.2:c.779T>A, NM_001242353.2:c.779T>G, NM_153433.1:c.779T>A, NM_153433.1:c.779T>G, NM_153433.2:c.779T>A, NM_153433.2:c.779T>G, NM_001242352.1:c.764T>A, NM_001242352.1:c.764T>G, NM_001242352.2:c.764T>A, NM_001242352.2:c.764T>G, NM_001351578.1:c.1028T>A, NM_001351578.1:c.1028T>G, NM_001351578.2:c.1028T>A, NM_001351578.2:c.1028T>G, NM_001351586.1:c.707T>A, NM_001351586.1:c.707T>G, NM_001351586.2:c.707T>A, NM_001351586.2:c.707T>G, NM_153435.1:c.971T>A, NM_153435.1:c.971T>G, NM_001351581.1:c.911T>A, NM_001351581.1:c.911T>G, NM_001351587.1:c.593T>A, NM_001351587.1:c.593T>G, NM_001351587.2:c.593T>A, NM_001351587.2:c.593T>G, NM_001351584.1:c.764T>A, NM_001351584.1:c.764T>G, NM_001351584.2:c.764T>A, NM_001351584.2:c.764T>G, NM_001351588.1:c.536T>A, NM_001351588.1:c.536T>G, NM_001351588.2:c.536T>A, NM_001351588.2:c.536T>G, NM_153432.1:c.911T>A, NM_153432.1:c.911T>G, NM_001242354.1:c.536T>A, NM_001242354.1:c.536T>G, NM_001242354.2:c.536T>A, NM_001242354.2:c.536T>G, NM_153440.1:c.722T>A, NM_153440.1:c.722T>G, NM_153440.2:c.722T>A, NM_153440.2:c.722T>G, NM_153439.1:c.854T>A, NM_153439.1:c.854T>G, NM_153436.1:c.779T>A, NM_153436.1:c.779T>G, NM_153436.2:c.779T>A, NM_153436.2:c.779T>G, NR_036755.1:n.1439T>A, NR_036755.1:n.1439T>G, NR_036756.1:n.1237T>A, NR_036756.1:n.1237T>G, NR_036757.1:n.1151T>A, NR_036757.1:n.1151T>G, NR_036754.1:n.923T>A, NR_036754.1:n.923T>G, NP_002531.3:p.Leu236Gln, NP_002531.3:p.Leu236Arg, NP_702915.1:p.Leu241Gln, NP_702915.1:p.Leu241Arg, NP_001338509.1:p.Leu255Gln, NP_001338509.1:p.Leu255Arg, NP_001338514.1:p.Leu255Gln, NP_001338514.1:p.Leu255Arg, NP_001338511.1:p.Leu299Gln, NP_001338511.1:p.Leu299Arg, NP_001338508.1:p.Leu255Gln, NP_001338508.1:p.Leu255Arg, NP_001338506.1:p.Leu343Gln, NP_001338506.1:p.Leu343Arg, NP_001338512.1:p.Leu236Gln, NP_001338512.1:p.Leu236Arg, NP_001229282.1:p.Leu260Gln, NP_001229282.1:p.Leu260Arg, NP_702911.1:p.Leu260Gln, NP_702911.1:p.Leu260Arg, NP_001229281.1:p.Leu255Gln, NP_001229281.1:p.Leu255Arg, NP_001338507.1:p.Leu343Gln, NP_001338507.1:p.Leu343Arg, NP_001338515.1:p.Leu236Gln, NP_001338515.1:p.Leu236Arg, NP_702913.1:p.Leu324Gln, NP_702913.1:p.Leu324Arg, NP_001338510.1:p.Leu304Gln, NP_001338510.1:p.Leu304Arg, NP_001338516.1:p.Leu198Gln, NP_001338516.1:p.Leu198Arg, NP_001338513.1:p.Leu255Gln, NP_001338513.1:p.Leu255Arg, NP_001338517.1:p.Leu179Gln, NP_001338517.1:p.Leu179Arg, NP_702910.1:p.Leu304Gln, NP_702910.1:p.Leu304Arg, NP_001229283.1:p.Leu179Gln, NP_001229283.1:p.Leu179Arg, NP_702918.1:p.Leu241Gln, NP_702918.1:p.Leu241Arg, NP_702917.1:p.Leu285Gln, NP_702917.1:p.Leu285Arg, NP_702914.1:p.Leu260Gln, NP_702914.1:p.Leu260Arg

          5.

          rs1485522455 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            9:128481608 (GRCh38)
            9:131243887 (GRCh37)
            Canonical SPDI:
            NC_000009.12:128481607:G:A
            Gene:
            ODF2 (Varview), LOC124902281 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000073/2 (ALFA)
            A=0.000008/2 (GnomAD_exomes)
            A=0.000008/2 (TOPMED)
            A=0.000014/2 (GnomAD)
            A=0.000223/1 (Estonian)
            HGVS:
            NC_000009.12:g.128481608G>A, NC_000009.11:g.131243887G>A, NG_029568.1:g.31454G>A, NM_002540.4:c.800G>A, NM_002540.5:c.800G>A, NM_153437.2:c.815G>A, NM_153437.3:c.815G>A, NM_001351580.1:c.857G>A, NM_001351580.2:c.857G>A, NM_001351585.1:c.857G>A, NM_001351585.2:c.857G>A, NM_001351582.1:c.989G>A, NM_001351582.2:c.989G>A, NM_001351579.1:c.857G>A, NM_001351579.2:c.857G>A, NM_001351577.1:c.1121G>A, NM_001351583.1:c.800G>A, NM_001351583.2:c.800G>A, NM_001242353.1:c.872G>A, NM_001242353.2:c.872G>A, NM_153433.1:c.872G>A, NM_153433.2:c.872G>A, NM_001242352.1:c.857G>A, NM_001242352.2:c.857G>A, NM_001351578.1:c.1121G>A, NM_001351578.2:c.1121G>A, NM_001351586.1:c.800G>A, NM_001351586.2:c.800G>A, NM_153435.1:c.1064G>A, NM_001351581.1:c.1004G>A, NM_001351587.1:c.686G>A, NM_001351587.2:c.686G>A, NM_001351584.1:c.857G>A, NM_001351584.2:c.857G>A, NM_001351588.1:c.629G>A, NM_001351588.2:c.629G>A, NM_153432.1:c.1004G>A, NM_001242354.1:c.629G>A, NM_001242354.2:c.629G>A, NM_153440.1:c.815G>A, NM_153440.2:c.815G>A, NM_153439.1:c.947G>A, NM_153436.1:c.872G>A, NM_153436.2:c.872G>A, NR_036755.1:n.1532G>A, NR_036756.1:n.1330G>A, NR_036757.1:n.1244G>A, NR_036754.1:n.1016G>A, NP_002531.3:p.Gly267Glu, NP_702915.1:p.Gly272Glu, NP_001338509.1:p.Gly286Glu, NP_001338514.1:p.Gly286Glu, NP_001338511.1:p.Gly330Glu, NP_001338508.1:p.Gly286Glu, NP_001338506.1:p.Gly374Glu, NP_001338512.1:p.Gly267Glu, NP_001229282.1:p.Gly291Glu, NP_702911.1:p.Gly291Glu, NP_001229281.1:p.Gly286Glu, NP_001338507.1:p.Gly374Glu, NP_001338515.1:p.Gly267Glu, NP_702913.1:p.Gly355Glu, NP_001338510.1:p.Gly335Glu, NP_001338516.1:p.Gly229Glu, NP_001338513.1:p.Gly286Glu, NP_001338517.1:p.Gly210Glu, NP_702910.1:p.Gly335Glu, NP_001229283.1:p.Gly210Glu, NP_702918.1:p.Gly272Glu, NP_702917.1:p.Gly316Glu, NP_702914.1:p.Gly291Glu

            6.

            rs1485286508 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:128492705 (GRCh38)
              9:131254984 (GRCh37)
              Canonical SPDI:
              NC_000009.12:128492704:T:C
              Gene:
              ODF2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000009.12:g.128492705T>C, NC_000009.11:g.131254984T>C, NG_029568.1:g.42551T>C, NM_002540.4:c.1580T>C, NM_002540.5:c.1580T>C, NM_153437.2:c.1595T>C, NM_153437.3:c.1595T>C, NM_001351580.1:c.1637T>C, NM_001351580.2:c.1637T>C, NM_001351585.1:c.1637T>C, NM_001351585.2:c.1637T>C, NM_001351582.1:c.1769T>C, NM_001351582.2:c.1769T>C, NM_001351579.1:c.1637T>C, NM_001351579.2:c.1637T>C, NM_001351577.1:c.1901T>C, NM_001351583.1:c.1580T>C, NM_001351583.2:c.1580T>C, NM_001242353.1:c.1652T>C, NM_001242353.2:c.1652T>C, NM_153433.1:c.1652T>C, NM_153433.2:c.1652T>C, NM_001242352.1:c.1637T>C, NM_001242352.2:c.1637T>C, NM_001351578.1:c.1901T>C, NM_001351578.2:c.1901T>C, NM_001351586.1:c.1580T>C, NM_001351586.2:c.1580T>C, NM_153435.1:c.1844T>C, NM_001351581.1:c.1784T>C, NM_001351587.1:c.1466T>C, NM_001351587.2:c.1466T>C, NM_001351584.1:c.1637T>C, NM_001351584.2:c.1637T>C, NM_001351588.1:c.1409T>C, NM_001351588.2:c.1409T>C, NM_153432.1:c.1784T>C, NM_001242354.1:c.1409T>C, NM_001242354.2:c.1409T>C, NM_153440.1:c.1595T>C, NM_153440.2:c.1595T>C, NM_153439.1:c.1727T>C, NM_153436.1:c.1652T>C, NM_153436.2:c.1652T>C, NR_036755.1:n.2312T>C, NR_036756.1:n.2110T>C, NR_036757.1:n.2024T>C, NR_036754.1:n.1796T>C, NP_002531.3:p.Met527Thr, NP_702915.1:p.Met532Thr, NP_001338509.1:p.Met546Thr, NP_001338514.1:p.Met546Thr, NP_001338511.1:p.Met590Thr, NP_001338508.1:p.Met546Thr, NP_001338506.1:p.Met634Thr, NP_001338512.1:p.Met527Thr, NP_001229282.1:p.Met551Thr, NP_702911.1:p.Met551Thr, NP_001229281.1:p.Met546Thr, NP_001338507.1:p.Met634Thr, NP_001338515.1:p.Met527Thr, NP_702913.1:p.Met615Thr, NP_001338510.1:p.Met595Thr, NP_001338516.1:p.Met489Thr, NP_001338513.1:p.Met546Thr, NP_001338517.1:p.Met470Thr, NP_702910.1:p.Met595Thr, NP_001229283.1:p.Met470Thr, NP_702918.1:p.Met532Thr, NP_702917.1:p.Met576Thr, NP_702914.1:p.Met551Thr

              7.

              rs1485000157 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                9:128473711 (GRCh38)
                9:131235990 (GRCh37)
                Canonical SPDI:
                NC_000009.12:128473710:A:T
                Gene:
                ODF2 (Varview), ODF2-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                HGVS:
                NC_000009.12:g.128473711A>T, NC_000009.11:g.131235990A>T, NG_029568.1:g.23557A>T, NM_002540.4:c.741A>T, NM_002540.5:c.741A>T, NM_153437.2:c.756A>T, NM_153437.3:c.756A>T, NM_001351580.1:c.798A>T, NM_001351580.2:c.798A>T, NM_001351585.1:c.798A>T, NM_001351585.2:c.798A>T, NM_001351582.1:c.930A>T, NM_001351582.2:c.930A>T, NM_001351579.1:c.798A>T, NM_001351579.2:c.798A>T, NM_001351577.1:c.1062A>T, NM_001351583.1:c.741A>T, NM_001351583.2:c.741A>T, NM_001242353.1:c.813A>T, NM_001242353.2:c.813A>T, NM_153433.1:c.813A>T, NM_153433.2:c.813A>T, NM_001242352.1:c.798A>T, NM_001242352.2:c.798A>T, NM_001351578.1:c.1062A>T, NM_001351578.2:c.1062A>T, NM_001351586.1:c.741A>T, NM_001351586.2:c.741A>T, NM_153435.1:c.1005A>T, NM_001351581.1:c.945A>T, NM_001351587.1:c.627A>T, NM_001351587.2:c.627A>T, NM_001351584.1:c.798A>T, NM_001351584.2:c.798A>T, NM_001351588.1:c.570A>T, NM_001351588.2:c.570A>T, NM_153432.1:c.945A>T, NM_001242354.1:c.570A>T, NM_001242354.2:c.570A>T, NM_153440.1:c.756A>T, NM_153440.2:c.756A>T, NM_153439.1:c.888A>T, NM_153436.1:c.813A>T, NM_153436.2:c.813A>T, NR_036755.1:n.1473A>T, NR_036756.1:n.1271A>T, NR_036757.1:n.1185A>T, NR_036754.1:n.957A>T

                8.

                rs1483761000 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:128471401 (GRCh38)
                  9:131233680 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:128471400:A:G
                  Gene:
                  ODF2 (Varview), ODF2-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  NC_000009.12:g.128471401A>G, NC_000009.11:g.131233680A>G, NG_029568.1:g.21247A>G, NM_002540.4:c.442A>G, NM_002540.5:c.442A>G, NM_153437.2:c.457A>G, NM_153437.3:c.457A>G, NM_001351580.1:c.499A>G, NM_001351580.2:c.499A>G, NM_001351585.1:c.499A>G, NM_001351585.2:c.499A>G, NM_001351582.1:c.631A>G, NM_001351582.2:c.631A>G, NM_001351579.1:c.499A>G, NM_001351579.2:c.499A>G, NM_001351577.1:c.763A>G, NM_001351583.1:c.442A>G, NM_001351583.2:c.442A>G, NM_001242353.1:c.514A>G, NM_001242353.2:c.514A>G, NM_153433.1:c.514A>G, NM_153433.2:c.514A>G, NM_001242352.1:c.499A>G, NM_001242352.2:c.499A>G, NM_001351578.1:c.763A>G, NM_001351578.2:c.763A>G, NM_001351586.1:c.442A>G, NM_001351586.2:c.442A>G, NM_153435.1:c.706A>G, NM_001351581.1:c.646A>G, NM_001351587.1:c.328A>G, NM_001351587.2:c.328A>G, NM_001351584.1:c.499A>G, NM_001351584.2:c.499A>G, NM_001351588.1:c.271A>G, NM_001351588.2:c.271A>G, NM_153432.1:c.646A>G, NM_001242354.1:c.271A>G, NM_001242354.2:c.271A>G, NM_153440.1:c.457A>G, NM_153440.2:c.457A>G, NM_153439.1:c.589A>G, NM_153436.1:c.514A>G, NM_153436.2:c.514A>G, NR_036755.1:n.1174A>G, NR_036756.1:n.972A>G, NR_036757.1:n.886A>G, NR_036754.1:n.658A>G, NP_002531.3:p.Thr148Ala, NP_702915.1:p.Thr153Ala, NP_001338509.1:p.Thr167Ala, NP_001338514.1:p.Thr167Ala, NP_001338511.1:p.Thr211Ala, NP_001338508.1:p.Thr167Ala, NP_001338506.1:p.Thr255Ala, NP_001338512.1:p.Thr148Ala, NP_001229282.1:p.Thr172Ala, NP_702911.1:p.Thr172Ala, NP_001229281.1:p.Thr167Ala, NP_001338507.1:p.Thr255Ala, NP_001338515.1:p.Thr148Ala, NP_702913.1:p.Thr236Ala, NP_001338510.1:p.Thr216Ala, NP_001338516.1:p.Thr110Ala, NP_001338513.1:p.Thr167Ala, NP_001338517.1:p.Thr91Ala, NP_702910.1:p.Thr216Ala, NP_001229283.1:p.Thr91Ala, NP_702918.1:p.Thr153Ala, NP_702917.1:p.Thr197Ala, NP_702914.1:p.Thr172Ala

                  9.

                  rs1483542072 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    9:128484766 (GRCh38)
                    9:131247045 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:128484765:G:T
                    Gene:
                    ODF2 (Varview), LOC124902281 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000009.12:g.128484766G>T, NC_000009.11:g.131247045G>T, NG_029568.1:g.34612G>T, NM_002540.4:c.1098G>T, NM_002540.5:c.1098G>T, NM_153437.2:c.1113G>T, NM_153437.3:c.1113G>T, NM_001351580.1:c.1155G>T, NM_001351580.2:c.1155G>T, NM_001351585.1:c.1155G>T, NM_001351585.2:c.1155G>T, NM_001351582.1:c.1287G>T, NM_001351582.2:c.1287G>T, NM_001351579.1:c.1155G>T, NM_001351579.2:c.1155G>T, NM_001351577.1:c.1419G>T, NM_001351583.1:c.1098G>T, NM_001351583.2:c.1098G>T, NM_001242353.1:c.1170G>T, NM_001242353.2:c.1170G>T, NM_153433.1:c.1170G>T, NM_153433.2:c.1170G>T, NM_001242352.1:c.1155G>T, NM_001242352.2:c.1155G>T, NM_001351578.1:c.1419G>T, NM_001351578.2:c.1419G>T, NM_001351586.1:c.1098G>T, NM_001351586.2:c.1098G>T, NM_153435.1:c.1362G>T, NM_001351581.1:c.1302G>T, NM_001351587.1:c.984G>T, NM_001351587.2:c.984G>T, NM_001351584.1:c.1155G>T, NM_001351584.2:c.1155G>T, NM_001351588.1:c.927G>T, NM_001351588.2:c.927G>T, NM_153432.1:c.1302G>T, NM_001242354.1:c.927G>T, NM_001242354.2:c.927G>T, NM_153440.1:c.1113G>T, NM_153440.2:c.1113G>T, NM_153439.1:c.1245G>T, NM_153436.1:c.1170G>T, NM_153436.2:c.1170G>T, NR_036755.1:n.1830G>T, NR_036756.1:n.1628G>T, NR_036757.1:n.1542G>T, NR_036754.1:n.1314G>T, NP_002531.3:p.Glu366Asp, NP_702915.1:p.Glu371Asp, NP_001338509.1:p.Glu385Asp, NP_001338514.1:p.Glu385Asp, NP_001338511.1:p.Glu429Asp, NP_001338508.1:p.Glu385Asp, NP_001338506.1:p.Glu473Asp, NP_001338512.1:p.Glu366Asp, NP_001229282.1:p.Glu390Asp, NP_702911.1:p.Glu390Asp, NP_001229281.1:p.Glu385Asp, NP_001338507.1:p.Glu473Asp, NP_001338515.1:p.Glu366Asp, NP_702913.1:p.Glu454Asp, NP_001338510.1:p.Glu434Asp, NP_001338516.1:p.Glu328Asp, NP_001338513.1:p.Glu385Asp, NP_001338517.1:p.Glu309Asp, NP_702910.1:p.Glu434Asp, NP_001229283.1:p.Glu309Asp, NP_702918.1:p.Glu371Asp, NP_702917.1:p.Glu415Asp, NP_702914.1:p.Glu390Asp

                    10.

                    rs1482478831 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      9:128494612 (GRCh38)
                      9:131256891 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:128494611:G:T
                      Gene:
                      ODF2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000009.12:g.128494612G>T, NC_000009.11:g.131256891G>T, NG_029568.1:g.44458G>T, NM_002540.4:c.1783G>T, NM_002540.5:c.1783G>T, NM_153437.2:c.1798G>T, NM_153437.3:c.1798G>T, NM_001351580.1:c.1840G>T, NM_001351580.2:c.1840G>T, NM_001351585.1:c.1840G>T, NM_001351585.2:c.1840G>T, NM_001351582.1:c.1972G>T, NM_001351582.2:c.1972G>T, NM_001351579.1:c.1840G>T, NM_001351579.2:c.1840G>T, NM_001351577.1:c.2104G>T, NM_001351583.1:c.1783G>T, NM_001351583.2:c.1783G>T, NM_001242353.1:c.1855G>T, NM_001242353.2:c.1855G>T, NM_153433.1:c.1855G>T, NM_153433.2:c.1855G>T, NM_001242352.1:c.1840G>T, NM_001242352.2:c.1840G>T, NM_001351578.1:c.2104G>T, NM_001351578.2:c.2104G>T, NM_001351586.1:c.1783G>T, NM_001351586.2:c.1783G>T, NM_153435.1:c.2047G>T, NM_001351581.1:c.1987G>T, NM_001351587.1:c.1669G>T, NM_001351587.2:c.1669G>T, NM_001351584.1:c.1840G>T, NM_001351584.2:c.1840G>T, NM_001351588.1:c.1612G>T, NM_001351588.2:c.1612G>T, NM_153432.1:c.1987G>T, NM_001242354.1:c.1612G>T, NM_001242354.2:c.1612G>T, NM_153440.1:c.1798G>T, NM_153440.2:c.1798G>T, NM_153439.1:c.1843G>T, NM_153436.1:c.1855G>T, NM_153436.2:c.1855G>T, NR_036755.1:n.2515G>T, NR_036756.1:n.2313G>T, NR_036757.1:n.2227G>T, NR_036754.1:n.1999G>T, NP_002531.3:p.Gly595Cys, NP_702915.1:p.Gly600Cys, NP_001338509.1:p.Gly614Cys, NP_001338514.1:p.Gly614Cys, NP_001338511.1:p.Gly658Cys, NP_001338508.1:p.Gly614Cys, NP_001338506.1:p.Gly702Cys, NP_001338512.1:p.Gly595Cys, NP_001229282.1:p.Gly619Cys, NP_702911.1:p.Gly619Cys, NP_001229281.1:p.Gly614Cys, NP_001338507.1:p.Gly702Cys, NP_001338515.1:p.Gly595Cys, NP_702913.1:p.Gly683Cys, NP_001338510.1:p.Gly663Cys, NP_001338516.1:p.Gly557Cys, NP_001338513.1:p.Gly614Cys, NP_001338517.1:p.Gly538Cys, NP_702910.1:p.Gly663Cys, NP_001229283.1:p.Gly538Cys, NP_702918.1:p.Gly600Cys, NP_702917.1:p.Gly615Cys, NP_702914.1:p.Gly619Cys

                      11.

                      rs1481568897 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:128473650 (GRCh38)
                        9:131235929 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:128473649:G:A
                        Gene:
                        ODF2 (Varview), ODF2-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000009.12:g.128473650G>A, NC_000009.11:g.131235929G>A, NG_029568.1:g.23496G>A, NM_002540.4:c.680G>A, NM_002540.5:c.680G>A, NM_153437.2:c.695G>A, NM_153437.3:c.695G>A, NM_001351580.1:c.737G>A, NM_001351580.2:c.737G>A, NM_001351585.1:c.737G>A, NM_001351585.2:c.737G>A, NM_001351582.1:c.869G>A, NM_001351582.2:c.869G>A, NM_001351579.1:c.737G>A, NM_001351579.2:c.737G>A, NM_001351577.1:c.1001G>A, NM_001351583.1:c.680G>A, NM_001351583.2:c.680G>A, NM_001242353.1:c.752G>A, NM_001242353.2:c.752G>A, NM_153433.1:c.752G>A, NM_153433.2:c.752G>A, NM_001242352.1:c.737G>A, NM_001242352.2:c.737G>A, NM_001351578.1:c.1001G>A, NM_001351578.2:c.1001G>A, NM_001351586.1:c.680G>A, NM_001351586.2:c.680G>A, NM_153435.1:c.944G>A, NM_001351581.1:c.884G>A, NM_001351587.1:c.566G>A, NM_001351587.2:c.566G>A, NM_001351584.1:c.737G>A, NM_001351584.2:c.737G>A, NM_001351588.1:c.509G>A, NM_001351588.2:c.509G>A, NM_153432.1:c.884G>A, NM_001242354.1:c.509G>A, NM_001242354.2:c.509G>A, NM_153440.1:c.695G>A, NM_153440.2:c.695G>A, NM_153439.1:c.827G>A, NM_153436.1:c.752G>A, NM_153436.2:c.752G>A, NR_036755.1:n.1412G>A, NR_036756.1:n.1210G>A, NR_036757.1:n.1124G>A, NR_036754.1:n.896G>A, NP_002531.3:p.Arg227Lys, NP_702915.1:p.Arg232Lys, NP_001338509.1:p.Arg246Lys, NP_001338514.1:p.Arg246Lys, NP_001338511.1:p.Arg290Lys, NP_001338508.1:p.Arg246Lys, NP_001338506.1:p.Arg334Lys, NP_001338512.1:p.Arg227Lys, NP_001229282.1:p.Arg251Lys, NP_702911.1:p.Arg251Lys, NP_001229281.1:p.Arg246Lys, NP_001338507.1:p.Arg334Lys, NP_001338515.1:p.Arg227Lys, NP_702913.1:p.Arg315Lys, NP_001338510.1:p.Arg295Lys, NP_001338516.1:p.Arg189Lys, NP_001338513.1:p.Arg246Lys, NP_001338517.1:p.Arg170Lys, NP_702910.1:p.Arg295Lys, NP_001229283.1:p.Arg170Lys, NP_702918.1:p.Arg232Lys, NP_702917.1:p.Arg276Lys, NP_702914.1:p.Arg251Lys

                        12.

                        rs1481302300 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          9:128499062 (GRCh38)
                          9:131261341 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:128499061:A:C,NC_000009.12:128499061:A:G
                          Gene:
                          ODF2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.128499062A>C, NC_000009.12:g.128499062A>G, NC_000009.11:g.131261341A>C, NC_000009.11:g.131261341A>G, NG_029568.1:g.48908A>C, NG_029568.1:g.48908A>G, NM_002540.4:c.2165A>C, NM_002540.4:c.2165A>G, NM_002540.5:c.2165A>C, NM_002540.5:c.2165A>G, NM_001351580.1:c.2378A>C, NM_001351580.1:c.2378A>G, NM_001351580.2:c.2378A>C, NM_001351580.2:c.2378A>G, NM_001351585.1:c.2222A>C, NM_001351585.1:c.2222A>G, NM_001351585.2:c.2222A>C, NM_001351585.2:c.2222A>G, NM_001351582.1:c.2354A>C, NM_001351582.1:c.2354A>G, NM_001351582.2:c.2354A>C, NM_001351582.2:c.2354A>G, NM_001351579.1:c.2378A>C, NM_001351579.1:c.2378A>G, NM_001351579.2:c.2378A>C, NM_001351579.2:c.2378A>G, NM_001351577.1:c.2642A>C, NM_001351577.1:c.2642A>G, NM_001351583.1:c.2321A>C, NM_001351583.1:c.2321A>G, NM_001351583.2:c.2321A>C, NM_001351583.2:c.2321A>G, NM_001242353.1:c.2237A>C, NM_001242353.1:c.2237A>G, NM_001242353.2:c.2237A>C, NM_001242353.2:c.2237A>G, NM_153433.1:c.2237A>C, NM_153433.1:c.2237A>G, NM_153433.2:c.2237A>C, NM_153433.2:c.2237A>G, NM_001242352.1:c.2222A>C, NM_001242352.1:c.2222A>G, NM_001242352.2:c.2222A>C, NM_001242352.2:c.2222A>G, NM_001351578.1:c.2486A>C, NM_001351578.1:c.2486A>G, NM_001351578.2:c.2486A>C, NM_001351578.2:c.2486A>G, NM_001351586.1:c.2165A>C, NM_001351586.1:c.2165A>G, NM_001351586.2:c.2165A>C, NM_001351586.2:c.2165A>G, NM_153435.1:c.2429A>C, NM_153435.1:c.2429A>G, NM_001351581.1:c.2369A>C, NM_001351581.1:c.2369A>G, NM_001351587.1:c.2051A>C, NM_001351587.1:c.2051A>G, NM_001351587.2:c.2051A>C, NM_001351587.2:c.2051A>G, NM_001351584.1:c.2222A>C, NM_001351584.1:c.2222A>G, NM_001351584.2:c.2222A>C, NM_001351584.2:c.2222A>G, NM_001351588.1:c.1994A>C, NM_001351588.1:c.1994A>G, NM_001351588.2:c.1994A>C, NM_001351588.2:c.1994A>G, NR_036755.1:n.2897A>C, NR_036755.1:n.2897A>G, NR_036756.1:n.2695A>C, NR_036756.1:n.2695A>G, NR_036757.1:n.2609A>C, NR_036757.1:n.2609A>G, NP_002531.3:p.Asp722Ala, NP_002531.3:p.Asp722Gly, NP_001338509.1:p.Asp793Ala, NP_001338509.1:p.Asp793Gly, NP_001338514.1:p.Asp741Ala, NP_001338514.1:p.Asp741Gly, NP_001338511.1:p.Asp785Ala, NP_001338511.1:p.Asp785Gly, NP_001338508.1:p.Asp793Ala, NP_001338508.1:p.Asp793Gly, NP_001338506.1:p.Asp881Ala, NP_001338506.1:p.Asp881Gly, NP_001338512.1:p.Asp774Ala, NP_001338512.1:p.Asp774Gly, NP_001229282.1:p.Asp746Ala, NP_001229282.1:p.Asp746Gly, NP_702911.1:p.Asp746Ala, NP_702911.1:p.Asp746Gly, NP_001229281.1:p.Asp741Ala, NP_001229281.1:p.Asp741Gly, NP_001338507.1:p.Asp829Ala, NP_001338507.1:p.Asp829Gly, NP_001338515.1:p.Asp722Ala, NP_001338515.1:p.Asp722Gly, NP_702913.1:p.Asp810Ala, NP_702913.1:p.Asp810Gly, NP_001338510.1:p.Asp790Ala, NP_001338510.1:p.Asp790Gly, NP_001338516.1:p.Asp684Ala, NP_001338516.1:p.Asp684Gly, NP_001338513.1:p.Asp741Ala, NP_001338513.1:p.Asp741Gly, NP_001338517.1:p.Asp665Ala, NP_001338517.1:p.Asp665Gly

                          13.

                          rs1481087609 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            9:128500206 (GRCh38)
                            9:131262485 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:128500205:C:A
                            Gene:
                            ODF2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000009.12:g.128500206C>A, NC_000009.11:g.131262485C>A, NG_029568.1:g.50052C>A, NM_002540.4:c.2369C>A, NM_002540.5:c.2369C>A, NM_001351580.1:c.2582C>A, NM_001351580.2:c.2582C>A, NM_001351585.1:c.2426C>A, NM_001351585.2:c.2426C>A, NM_001351582.1:c.2558C>A, NM_001351582.2:c.2558C>A, NM_001351579.1:c.2582C>A, NM_001351579.2:c.2582C>A, NM_001351577.1:c.2846C>A, NM_001351583.1:c.2525C>A, NM_001351583.2:c.2525C>A, NM_001242353.1:c.2441C>A, NM_001242353.2:c.2441C>A, NM_153433.1:c.2441C>A, NM_153433.2:c.2441C>A, NM_001242352.1:c.2426C>A, NM_001242352.2:c.2426C>A, NM_001351578.1:c.2690C>A, NM_001351578.2:c.2690C>A, NM_001351586.1:c.2369C>A, NM_001351586.2:c.2369C>A, NM_153435.1:c.2633C>A, NM_001351581.1:c.2573C>A, NM_001351587.1:c.2255C>A, NM_001351587.2:c.2255C>A, NM_001351584.1:c.2426C>A, NM_001351584.2:c.2426C>A, NM_001351588.1:c.2198C>A, NM_001351588.2:c.2198C>A, NG_012073.1:g.515C>A, NR_036755.1:n.3101C>A, NR_036756.1:n.2899C>A, NR_036757.1:n.2813C>A, NP_002531.3:p.Ser790Tyr, NP_001338509.1:p.Ser861Tyr, NP_001338514.1:p.Ser809Tyr, NP_001338511.1:p.Ser853Tyr, NP_001338508.1:p.Ser861Tyr, NP_001338506.1:p.Ser949Tyr, NP_001338512.1:p.Ser842Tyr, NP_001229282.1:p.Ser814Tyr, NP_702911.1:p.Ser814Tyr, NP_001229281.1:p.Ser809Tyr, NP_001338507.1:p.Ser897Tyr, NP_001338515.1:p.Ser790Tyr, NP_702913.1:p.Ser878Tyr, NP_001338510.1:p.Ser858Tyr, NP_001338516.1:p.Ser752Tyr, NP_001338513.1:p.Ser809Tyr, NP_001338517.1:p.Ser733Tyr

                            14.

                            rs1480974056 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:128498425 (GRCh38)
                              9:131260704 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:128498424:G:A
                              Gene:
                              ODF2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000048/1 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.128498425G>A, NC_000009.11:g.131260704G>A, NG_029568.1:g.48271G>A, NM_002540.4:c.1953G>A, NM_002540.5:c.1953G>A, NM_001351580.1:c.2166G>A, NM_001351580.2:c.2166G>A, NM_001351585.1:c.2010G>A, NM_001351585.2:c.2010G>A, NM_001351582.1:c.2142G>A, NM_001351582.2:c.2142G>A, NM_001351579.1:c.2166G>A, NM_001351579.2:c.2166G>A, NM_001351577.1:c.2430G>A, NM_001351583.1:c.2109G>A, NM_001351583.2:c.2109G>A, NM_001242353.1:c.2025G>A, NM_001242353.2:c.2025G>A, NM_153433.1:c.2025G>A, NM_153433.2:c.2025G>A, NM_001242352.1:c.2010G>A, NM_001242352.2:c.2010G>A, NM_001351578.1:c.2274G>A, NM_001351578.2:c.2274G>A, NM_001351586.1:c.1953G>A, NM_001351586.2:c.1953G>A, NM_153435.1:c.2217G>A, NM_001351581.1:c.2157G>A, NM_001351587.1:c.1839G>A, NM_001351587.2:c.1839G>A, NM_001351584.1:c.2010G>A, NM_001351584.2:c.2010G>A, NM_001351588.1:c.1782G>A, NM_001351588.2:c.1782G>A, NR_036755.1:n.2685G>A, NR_036756.1:n.2483G>A, NR_036757.1:n.2397G>A

                              15.

                              rs1480507423 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:128485435 (GRCh38)
                                9:131247714 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:128485434:A:G
                                Gene:
                                ODF2 (Varview), LOC124902281 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.128485435A>G, NC_000009.11:g.131247714A>G, NG_029568.1:g.35281A>G, NM_002540.4:c.1289A>G, NM_002540.5:c.1289A>G, NM_153437.2:c.1304A>G, NM_153437.3:c.1304A>G, NM_001351580.1:c.1346A>G, NM_001351580.2:c.1346A>G, NM_001351585.1:c.1346A>G, NM_001351585.2:c.1346A>G, NM_001351582.1:c.1478A>G, NM_001351582.2:c.1478A>G, NM_001351579.1:c.1346A>G, NM_001351579.2:c.1346A>G, NM_001351577.1:c.1610A>G, NM_001351583.1:c.1289A>G, NM_001351583.2:c.1289A>G, NM_001242353.1:c.1361A>G, NM_001242353.2:c.1361A>G, NM_153433.1:c.1361A>G, NM_153433.2:c.1361A>G, NM_001242352.1:c.1346A>G, NM_001242352.2:c.1346A>G, NM_001351578.1:c.1610A>G, NM_001351578.2:c.1610A>G, NM_001351586.1:c.1289A>G, NM_001351586.2:c.1289A>G, NM_153435.1:c.1553A>G, NM_001351581.1:c.1493A>G, NM_001351587.1:c.1175A>G, NM_001351587.2:c.1175A>G, NM_001351584.1:c.1346A>G, NM_001351584.2:c.1346A>G, NM_001351588.1:c.1118A>G, NM_001351588.2:c.1118A>G, NM_153432.1:c.1493A>G, NM_001242354.1:c.1118A>G, NM_001242354.2:c.1118A>G, NM_153440.1:c.1304A>G, NM_153440.2:c.1304A>G, NM_153439.1:c.1436A>G, NM_153436.1:c.1361A>G, NM_153436.2:c.1361A>G, NR_036755.1:n.2021A>G, NR_036756.1:n.1819A>G, NR_036757.1:n.1733A>G, NR_036754.1:n.1505A>G, NP_002531.3:p.Glu430Gly, NP_702915.1:p.Glu435Gly, NP_001338509.1:p.Glu449Gly, NP_001338514.1:p.Glu449Gly, NP_001338511.1:p.Glu493Gly, NP_001338508.1:p.Glu449Gly, NP_001338506.1:p.Glu537Gly, NP_001338512.1:p.Glu430Gly, NP_001229282.1:p.Glu454Gly, NP_702911.1:p.Glu454Gly, NP_001229281.1:p.Glu449Gly, NP_001338507.1:p.Glu537Gly, NP_001338515.1:p.Glu430Gly, NP_702913.1:p.Glu518Gly, NP_001338510.1:p.Glu498Gly, NP_001338516.1:p.Glu392Gly, NP_001338513.1:p.Glu449Gly, NP_001338517.1:p.Glu373Gly, NP_702910.1:p.Glu498Gly, NP_001229283.1:p.Glu373Gly, NP_702918.1:p.Glu435Gly, NP_702917.1:p.Glu479Gly, NP_702914.1:p.Glu454Gly

                                16.

                                rs1480323557 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  9:128500139 (GRCh38)
                                  9:131262418 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:128500138:A:T
                                  Gene:
                                  ODF2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.128500139A>T, NC_000009.11:g.131262418A>T, NG_029568.1:g.49985A>T, NM_002540.4:c.2302A>T, NM_002540.5:c.2302A>T, NM_001351580.1:c.2515A>T, NM_001351580.2:c.2515A>T, NM_001351585.1:c.2359A>T, NM_001351585.2:c.2359A>T, NM_001351582.1:c.2491A>T, NM_001351582.2:c.2491A>T, NM_001351579.1:c.2515A>T, NM_001351579.2:c.2515A>T, NM_001351577.1:c.2779A>T, NM_001351583.1:c.2458A>T, NM_001351583.2:c.2458A>T, NM_001242353.1:c.2374A>T, NM_001242353.2:c.2374A>T, NM_153433.1:c.2374A>T, NM_153433.2:c.2374A>T, NM_001242352.1:c.2359A>T, NM_001242352.2:c.2359A>T, NM_001351578.1:c.2623A>T, NM_001351578.2:c.2623A>T, NM_001351586.1:c.2302A>T, NM_001351586.2:c.2302A>T, NM_153435.1:c.2566A>T, NM_001351581.1:c.2506A>T, NM_001351587.1:c.2188A>T, NM_001351587.2:c.2188A>T, NM_001351584.1:c.2359A>T, NM_001351584.2:c.2359A>T, NM_001351588.1:c.2131A>T, NM_001351588.2:c.2131A>T, NG_012073.1:g.448A>T, NR_036755.1:n.3034A>T, NR_036756.1:n.2832A>T, NR_036757.1:n.2746A>T, NP_002531.3:p.Ser768Cys, NP_001338509.1:p.Ser839Cys, NP_001338514.1:p.Ser787Cys, NP_001338511.1:p.Ser831Cys, NP_001338508.1:p.Ser839Cys, NP_001338506.1:p.Ser927Cys, NP_001338512.1:p.Ser820Cys, NP_001229282.1:p.Ser792Cys, NP_702911.1:p.Ser792Cys, NP_001229281.1:p.Ser787Cys, NP_001338507.1:p.Ser875Cys, NP_001338515.1:p.Ser768Cys, NP_702913.1:p.Ser856Cys, NP_001338510.1:p.Ser836Cys, NP_001338516.1:p.Ser730Cys, NP_001338513.1:p.Ser787Cys, NP_001338517.1:p.Ser711Cys

                                  17.

                                  rs1476977266 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:128487975 (GRCh38)
                                    9:131250254 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:128487974:C:T
                                    Gene:
                                    ODF2 (Varview), LOC124902281 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000014/2 (GnomAD)
                                    T=0.00003/8 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.128487975C>T, NC_000009.11:g.131250254C>T, NG_029568.1:g.37821C>T, NM_002540.4:c.1414C>T, NM_002540.5:c.1414C>T, NM_153437.2:c.1429C>T, NM_153437.3:c.1429C>T, NM_001351580.1:c.1471C>T, NM_001351580.2:c.1471C>T, NM_001351585.1:c.1471C>T, NM_001351585.2:c.1471C>T, NM_001351582.1:c.1603C>T, NM_001351582.2:c.1603C>T, NM_001351579.1:c.1471C>T, NM_001351579.2:c.1471C>T, NM_001351577.1:c.1735C>T, NM_001351583.1:c.1414C>T, NM_001351583.2:c.1414C>T, NM_001242353.1:c.1486C>T, NM_001242353.2:c.1486C>T, NM_153433.1:c.1486C>T, NM_153433.2:c.1486C>T, NM_001242352.1:c.1471C>T, NM_001242352.2:c.1471C>T, NM_001351578.1:c.1735C>T, NM_001351578.2:c.1735C>T, NM_001351586.1:c.1414C>T, NM_001351586.2:c.1414C>T, NM_153435.1:c.1678C>T, NM_001351581.1:c.1618C>T, NM_001351587.1:c.1300C>T, NM_001351587.2:c.1300C>T, NM_001351584.1:c.1471C>T, NM_001351584.2:c.1471C>T, NM_001351588.1:c.1243C>T, NM_001351588.2:c.1243C>T, NM_153432.1:c.1618C>T, NM_001242354.1:c.1243C>T, NM_001242354.2:c.1243C>T, NM_153440.1:c.1429C>T, NM_153440.2:c.1429C>T, NM_153439.1:c.1561C>T, NM_153436.1:c.1486C>T, NM_153436.2:c.1486C>T, NR_036755.1:n.2146C>T, NR_036756.1:n.1944C>T, NR_036757.1:n.1858C>T, XR_007061803.1:n.423G>A, NR_036754.1:n.1630C>T, NP_002531.3:p.Arg472Cys, NP_702915.1:p.Arg477Cys, NP_001338509.1:p.Arg491Cys, NP_001338514.1:p.Arg491Cys, NP_001338511.1:p.Arg535Cys, NP_001338508.1:p.Arg491Cys, NP_001338506.1:p.Arg579Cys, NP_001338512.1:p.Arg472Cys, NP_001229282.1:p.Arg496Cys, NP_702911.1:p.Arg496Cys, NP_001229281.1:p.Arg491Cys, NP_001338507.1:p.Arg579Cys, NP_001338515.1:p.Arg472Cys, NP_702913.1:p.Arg560Cys, NP_001338510.1:p.Arg540Cys, NP_001338516.1:p.Arg434Cys, NP_001338513.1:p.Arg491Cys, NP_001338517.1:p.Arg415Cys, NP_702910.1:p.Arg540Cys, NP_001229283.1:p.Arg415Cys, NP_702918.1:p.Arg477Cys, NP_702917.1:p.Arg521Cys, NP_702914.1:p.Arg496Cys

                                    18.

                                    rs1475202770 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      9:128499003 (GRCh38)
                                      9:131261282 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:128499002:GG:G
                                      Gene:
                                      ODF2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                                      HGVS:
                                      NC_000009.12:g.128499004del, NC_000009.11:g.131261283del, NG_029568.1:g.48850del, NM_002540.4:c.2107del, NM_002540.5:c.2107del, NM_001351580.1:c.2320del, NM_001351580.2:c.2320del, NM_001351585.1:c.2164del, NM_001351585.2:c.2164del, NM_001351582.1:c.2296del, NM_001351582.2:c.2296del, NM_001351579.1:c.2320del, NM_001351579.2:c.2320del, NM_001351577.1:c.2584del, NM_001351583.1:c.2263del, NM_001351583.2:c.2263del, NM_001242353.1:c.2179del, NM_001242353.2:c.2179del, NM_153433.1:c.2179del, NM_153433.2:c.2179del, NM_001242352.1:c.2164del, NM_001242352.2:c.2164del, NM_001351578.1:c.2428del, NM_001351578.2:c.2428del, NM_001351586.1:c.2107del, NM_001351586.2:c.2107del, NM_153435.1:c.2371del, NM_001351581.1:c.2311del, NM_001351587.1:c.1993del, NM_001351587.2:c.1993del, NM_001351584.1:c.2164del, NM_001351584.2:c.2164del, NM_001351588.1:c.1936del, NM_001351588.2:c.1936del, NR_036755.1:n.2839del, NR_036756.1:n.2637del, NR_036757.1:n.2551del, NP_002531.3:p.Glu703fs, NP_001338509.1:p.Glu774fs, NP_001338514.1:p.Glu722fs, NP_001338511.1:p.Glu766fs, NP_001338508.1:p.Glu774fs, NP_001338506.1:p.Glu862fs, NP_001338512.1:p.Glu755fs, NP_001229282.1:p.Glu727fs, NP_702911.1:p.Glu727fs, NP_001229281.1:p.Glu722fs, NP_001338507.1:p.Glu810fs, NP_001338515.1:p.Glu703fs, NP_702913.1:p.Glu791fs, NP_001338510.1:p.Glu771fs, NP_001338516.1:p.Glu665fs, NP_001338513.1:p.Glu722fs, NP_001338517.1:p.Glu646fs

                                      19.

                                      rs1475017051 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:128484033 (GRCh38)
                                        9:131246312 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:128484032:T:G
                                        Gene:
                                        ODF2 (Varview), LOC124902281 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.128484033T>G, NC_000009.11:g.131246312T>G, NG_029568.1:g.33879T>G, NM_002540.4:c.1011T>G, NM_002540.5:c.1011T>G, NM_153437.2:c.1026T>G, NM_153437.3:c.1026T>G, NM_001351580.1:c.1068T>G, NM_001351580.2:c.1068T>G, NM_001351585.1:c.1068T>G, NM_001351585.2:c.1068T>G, NM_001351582.1:c.1200T>G, NM_001351582.2:c.1200T>G, NM_001351579.1:c.1068T>G, NM_001351579.2:c.1068T>G, NM_001351577.1:c.1332T>G, NM_001351583.1:c.1011T>G, NM_001351583.2:c.1011T>G, NM_001242353.1:c.1083T>G, NM_001242353.2:c.1083T>G, NM_153433.1:c.1083T>G, NM_153433.2:c.1083T>G, NM_001242352.1:c.1068T>G, NM_001242352.2:c.1068T>G, NM_001351578.1:c.1332T>G, NM_001351578.2:c.1332T>G, NM_001351586.1:c.1011T>G, NM_001351586.2:c.1011T>G, NM_153435.1:c.1275T>G, NM_001351581.1:c.1215T>G, NM_001351587.1:c.897T>G, NM_001351587.2:c.897T>G, NM_001351584.1:c.1068T>G, NM_001351584.2:c.1068T>G, NM_001351588.1:c.840T>G, NM_001351588.2:c.840T>G, NM_153432.1:c.1215T>G, NM_001242354.1:c.840T>G, NM_001242354.2:c.840T>G, NM_153440.1:c.1026T>G, NM_153440.2:c.1026T>G, NM_153439.1:c.1158T>G, NM_153436.1:c.1083T>G, NM_153436.2:c.1083T>G, NR_036755.1:n.1743T>G, NR_036756.1:n.1541T>G, NR_036757.1:n.1455T>G, NR_036754.1:n.1227T>G, NP_002531.3:p.Ser337Arg, NP_702915.1:p.Ser342Arg, NP_001338509.1:p.Ser356Arg, NP_001338514.1:p.Ser356Arg, NP_001338511.1:p.Ser400Arg, NP_001338508.1:p.Ser356Arg, NP_001338506.1:p.Ser444Arg, NP_001338512.1:p.Ser337Arg, NP_001229282.1:p.Ser361Arg, NP_702911.1:p.Ser361Arg, NP_001229281.1:p.Ser356Arg, NP_001338507.1:p.Ser444Arg, NP_001338515.1:p.Ser337Arg, NP_702913.1:p.Ser425Arg, NP_001338510.1:p.Ser405Arg, NP_001338516.1:p.Ser299Arg, NP_001338513.1:p.Ser356Arg, NP_001338517.1:p.Ser280Arg, NP_702910.1:p.Ser405Arg, NP_001229283.1:p.Ser280Arg, NP_702918.1:p.Ser342Arg, NP_702917.1:p.Ser386Arg, NP_702914.1:p.Ser361Arg

                                        20.

                                        rs1474750723 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          9:128487994 (GRCh38)
                                          9:131250273 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:128487993:C:G
                                          Gene:
                                          ODF2 (Varview), LOC124902281 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.128487994C>G, NC_000009.11:g.131250273C>G, NG_029568.1:g.37840C>G, NM_002540.4:c.1433C>G, NM_002540.5:c.1433C>G, NM_153437.2:c.1448C>G, NM_153437.3:c.1448C>G, NM_001351580.1:c.1490C>G, NM_001351580.2:c.1490C>G, NM_001351585.1:c.1490C>G, NM_001351585.2:c.1490C>G, NM_001351582.1:c.1622C>G, NM_001351582.2:c.1622C>G, NM_001351579.1:c.1490C>G, NM_001351579.2:c.1490C>G, NM_001351577.1:c.1754C>G, NM_001351583.1:c.1433C>G, NM_001351583.2:c.1433C>G, NM_001242353.1:c.1505C>G, NM_001242353.2:c.1505C>G, NM_153433.1:c.1505C>G, NM_153433.2:c.1505C>G, NM_001242352.1:c.1490C>G, NM_001242352.2:c.1490C>G, NM_001351578.1:c.1754C>G, NM_001351578.2:c.1754C>G, NM_001351586.1:c.1433C>G, NM_001351586.2:c.1433C>G, NM_153435.1:c.1697C>G, NM_001351581.1:c.1637C>G, NM_001351587.1:c.1319C>G, NM_001351587.2:c.1319C>G, NM_001351584.1:c.1490C>G, NM_001351584.2:c.1490C>G, NM_001351588.1:c.1262C>G, NM_001351588.2:c.1262C>G, NM_153432.1:c.1637C>G, NM_001242354.1:c.1262C>G, NM_001242354.2:c.1262C>G, NM_153440.1:c.1448C>G, NM_153440.2:c.1448C>G, NM_153439.1:c.1580C>G, NM_153436.1:c.1505C>G, NM_153436.2:c.1505C>G, NR_036755.1:n.2165C>G, NR_036756.1:n.1963C>G, NR_036757.1:n.1877C>G, XR_007061803.1:n.404G>C, NR_036754.1:n.1649C>G, NP_002531.3:p.Ser478Cys, NP_702915.1:p.Ser483Cys, NP_001338509.1:p.Ser497Cys, NP_001338514.1:p.Ser497Cys, NP_001338511.1:p.Ser541Cys, NP_001338508.1:p.Ser497Cys, NP_001338506.1:p.Ser585Cys, NP_001338512.1:p.Ser478Cys, NP_001229282.1:p.Ser502Cys, NP_702911.1:p.Ser502Cys, NP_001229281.1:p.Ser497Cys, NP_001338507.1:p.Ser585Cys, NP_001338515.1:p.Ser478Cys, NP_702913.1:p.Ser566Cys, NP_001338510.1:p.Ser546Cys, NP_001338516.1:p.Ser440Cys, NP_001338513.1:p.Ser497Cys, NP_001338517.1:p.Ser421Cys, NP_702910.1:p.Ser546Cys, NP_001229283.1:p.Ser421Cys, NP_702918.1:p.Ser483Cys, NP_702917.1:p.Ser527Cys, NP_702914.1:p.Ser502Cys

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