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Items: 1 to 20 of 302

1.

rs1486593695 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:11658312 (GRCh38)
    1:11718369 (GRCh37)
    Canonical SPDI:
    NC_000001.11:11658311:G:A
    Gene:
    FBXO44 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,stop_gained,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.11658312G>A, NC_000001.10:g.11718369G>A, NG_081942.1:g.436G>A, NM_033182.7:c.311G>A, NM_033182.6:c.311G>A, NM_033182.5:c.311G>A, XM_005263536.5:c.311G>A, XM_005263536.4:c.311G>A, XM_005263536.3:c.311G>A, XM_005263536.2:c.311G>A, XM_005263536.1:c.311G>A, XM_006711045.4:c.311G>A, XM_006711045.3:c.311G>A, XM_006711045.2:c.311G>A, XM_006711045.1:c.311G>A, XM_006711043.4:c.311G>A, XM_006711043.3:c.311G>A, XM_006711043.2:c.311G>A, XM_006711043.1:c.311G>A, NM_183412.3:c.311G>A, NM_183412.2:c.311G>A, NM_183413.3:c.311G>A, NM_183413.2:c.311G>A, XM_017002842.3:c.311G>A, XM_017002842.2:c.311G>A, XM_017002842.1:c.311G>A, XM_017002844.3:c.311G>A, XM_017002844.2:c.311G>A, XM_017002844.1:c.311G>A, XM_011542435.2:c.311G>A, XM_011542435.1:c.311G>A, NM_001014765.2:c.311G>A, NM_001014765.1:c.311G>A, NM_001304791.2:c.311G>A, NM_001304791.1:c.311G>A, XM_005263537.2:c.311G>A, XM_005263537.1:c.311G>A, NM_001330355.2:c.311G>A, NM_001330355.1:c.311G>A, NM_001304790.2:c.311G>A, NM_001304790.1:c.311G>A, NR_130909.2:n.283G>A, NR_130909.1:n.303G>A, XM_017002843.2:c.311G>A, XM_017002843.1:c.311G>A, XM_047434652.1:c.311G>A, XM_047434635.1:c.311G>A, XM_047434631.1:c.311G>A, XM_047434660.1:c.311G>A, XM_047434647.1:c.311G>A, XM_047434637.1:c.311G>A, XM_047434659.1:c.311G>A, XR_007064917.1:n.789G>A, XR_007064914.1:n.417G>A, XR_007064919.1:n.516G>A, XR_007064913.1:n.417G>A, XR_007064918.1:n.417G>A, NP_149438.2:p.Trp104Ter, XP_005263593.1:p.Trp104Ter, XP_006711108.1:p.Trp104Ter, XP_006711106.1:p.Trp104Ter, NP_904319.1:p.Trp104Ter, NP_904320.1:p.Trp104Ter, XP_016858331.1:p.Trp104Ter, XP_016858333.1:p.Trp104Ter, XP_011540737.1:p.Trp104Ter, NP_001014765.1:p.Trp104Ter, NP_001291720.1:p.Trp104Ter, XP_005263594.1:p.Trp104Ter, NP_001317284.1:p.Trp104Ter, NP_001291719.1:p.Trp104Ter, XP_016858332.1:p.Trp104Ter, XP_047290608.1:p.Trp104Ter, XP_047290591.1:p.Trp104Ter, XP_047290587.1:p.Trp104Ter, XP_047290616.1:p.Trp104Ter, XP_047290603.1:p.Trp104Ter, XP_047290593.1:p.Trp104Ter, XP_047290615.1:p.Trp104Ter

    2.

    rs1480718296 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:11656066 (GRCh38)
      1:11716123 (GRCh37)
      Canonical SPDI:
      NC_000001.11:11656065:G:C
      Gene:
      FBXO2 (Varview), FBXO44 (Varview)
      Functional Consequence:
      2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.11656066G>C, NC_000001.10:g.11716123G>C, NM_033182.7:c.231G>C, NM_033182.6:c.231G>C, NM_033182.5:c.231G>C, XM_005263536.5:c.231G>C, XM_005263536.4:c.231G>C, XM_005263536.3:c.231G>C, XM_005263536.2:c.231G>C, XM_005263536.1:c.231G>C, XM_006711045.4:c.231G>C, XM_006711045.3:c.231G>C, XM_006711045.2:c.231G>C, XM_006711045.1:c.231G>C, XM_006711043.4:c.231G>C, XM_006711043.3:c.231G>C, XM_006711043.2:c.231G>C, XM_006711043.1:c.231G>C, NM_183412.3:c.231G>C, NM_183412.2:c.231G>C, NM_183413.3:c.231G>C, NM_183413.2:c.231G>C, XM_017002842.3:c.231G>C, XM_017002842.2:c.231G>C, XM_017002842.1:c.231G>C, XM_017002844.3:c.231G>C, XM_017002844.2:c.231G>C, XM_017002844.1:c.231G>C, XM_011542435.2:c.231G>C, XM_011542435.1:c.231G>C, NM_001014765.2:c.231G>C, NM_001014765.1:c.231G>C, NM_001304791.2:c.231G>C, NM_001304791.1:c.231G>C, XM_005263537.2:c.231G>C, XM_005263537.1:c.231G>C, NM_001330355.2:c.231G>C, NM_001330355.1:c.231G>C, NM_001304790.2:c.231G>C, NM_001304790.1:c.231G>C, NR_130909.2:n.203G>C, NR_130909.1:n.223G>C, XM_017002843.2:c.231G>C, XM_017002843.1:c.231G>C, XM_047434652.1:c.231G>C, XM_047434635.1:c.231G>C, XM_047434631.1:c.231G>C, XM_047434660.1:c.231G>C, XM_047434647.1:c.231G>C, XM_047434637.1:c.231G>C, XM_047434659.1:c.231G>C, XR_007064917.1:n.709G>C, XR_007064914.1:n.337G>C, XR_007064919.1:n.436G>C, XR_007064913.1:n.337G>C, XR_007064918.1:n.337G>C

      3.

      rs1479946785 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:11656075 (GRCh38)
        1:11716132 (GRCh37)
        Canonical SPDI:
        NC_000001.11:11656074:C:A
        Gene:
        FBXO2 (Varview), FBXO44 (Varview)
        Functional Consequence:
        2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.11656075C>A, NC_000001.10:g.11716132C>A, NM_033182.7:c.240C>A, NM_033182.6:c.240C>A, NM_033182.5:c.240C>A, XM_005263536.5:c.240C>A, XM_005263536.4:c.240C>A, XM_005263536.3:c.240C>A, XM_005263536.2:c.240C>A, XM_005263536.1:c.240C>A, XM_006711045.4:c.240C>A, XM_006711045.3:c.240C>A, XM_006711045.2:c.240C>A, XM_006711045.1:c.240C>A, XM_006711043.4:c.240C>A, XM_006711043.3:c.240C>A, XM_006711043.2:c.240C>A, XM_006711043.1:c.240C>A, NM_183412.3:c.240C>A, NM_183412.2:c.240C>A, NM_183413.3:c.240C>A, NM_183413.2:c.240C>A, XM_017002842.3:c.240C>A, XM_017002842.2:c.240C>A, XM_017002842.1:c.240C>A, XM_017002844.3:c.240C>A, XM_017002844.2:c.240C>A, XM_017002844.1:c.240C>A, XM_011542435.2:c.240C>A, XM_011542435.1:c.240C>A, NM_001014765.2:c.240C>A, NM_001014765.1:c.240C>A, NM_001304791.2:c.240C>A, NM_001304791.1:c.240C>A, XM_005263537.2:c.240C>A, XM_005263537.1:c.240C>A, NM_001330355.2:c.240C>A, NM_001330355.1:c.240C>A, NM_001304790.2:c.240C>A, NM_001304790.1:c.240C>A, NR_130909.2:n.212C>A, NR_130909.1:n.232C>A, XM_017002843.2:c.240C>A, XM_017002843.1:c.240C>A, XM_047434652.1:c.240C>A, XM_047434635.1:c.240C>A, XM_047434631.1:c.240C>A, XM_047434660.1:c.240C>A, XM_047434647.1:c.240C>A, XM_047434637.1:c.240C>A, XM_047434659.1:c.240C>A, XR_007064917.1:n.718C>A, XR_007064914.1:n.346C>A, XR_007064919.1:n.445C>A, XR_007064913.1:n.346C>A, XR_007064918.1:n.346C>A, NP_149438.2:p.Asn80Lys, XP_005263593.1:p.Asn80Lys, XP_006711108.1:p.Asn80Lys, XP_006711106.1:p.Asn80Lys, NP_904319.1:p.Asn80Lys, NP_904320.1:p.Asn80Lys, XP_016858331.1:p.Asn80Lys, XP_016858333.1:p.Asn80Lys, XP_011540737.1:p.Asn80Lys, NP_001014765.1:p.Asn80Lys, NP_001291720.1:p.Asn80Lys, XP_005263594.1:p.Asn80Lys, NP_001317284.1:p.Asn80Lys, NP_001291719.1:p.Asn80Lys, XP_016858332.1:p.Asn80Lys, XP_047290608.1:p.Asn80Lys, XP_047290591.1:p.Asn80Lys, XP_047290587.1:p.Asn80Lys, XP_047290616.1:p.Asn80Lys, XP_047290603.1:p.Asn80Lys, XP_047290593.1:p.Asn80Lys, XP_047290615.1:p.Asn80Lys

        4.

        rs1479422495 has merged into rs1286811700 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TCTC>-,TC [Show Flanks]
          Chromosome:
          1:11658329 (GRCh38)
          1:11718386 (GRCh37)
          Canonical SPDI:
          NC_000001.11:11658324:TCTCTCTC:TCTC,NC_000001.11:11658324:TCTCTCTC:TCTCTC
          Gene:
          FBXO44 (Varview)
          Functional Consequence:
          frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TCTCTCTC=0.000071/1 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000014/2 (GnomAD)
          HGVS:
          NC_000001.11:g.11658325TC[2], NC_000001.11:g.11658325TC[3], NC_000001.10:g.11718382TC[2], NC_000001.10:g.11718382TC[3], NG_081942.1:g.449TC[2], NG_081942.1:g.449TC[3], NM_033182.7:c.328_331del, NM_033182.7:c.330_331del, NM_033182.6:c.328_331del, NM_033182.6:c.330_331del, NM_033182.5:c.328_331del, NM_033182.5:c.330_331del, XM_005263536.5:c.328_331del, XM_005263536.5:c.330_331del, XM_005263536.4:c.328_331del, XM_005263536.4:c.330_331del, XM_005263536.3:c.328_331del, XM_005263536.3:c.330_331del, XM_005263536.2:c.328_331del, XM_005263536.2:c.330_331del, XM_005263536.1:c.328_331del, XM_005263536.1:c.330_331del, XM_006711045.4:c.328_331del, XM_006711045.4:c.330_331del, XM_006711045.3:c.328_331del, XM_006711045.3:c.330_331del, XM_006711045.2:c.328_331del, XM_006711045.2:c.330_331del, XM_006711045.1:c.328_331del, XM_006711045.1:c.330_331del, XM_006711043.4:c.328_331del, XM_006711043.4:c.330_331del, XM_006711043.3:c.328_331del, XM_006711043.3:c.330_331del, XM_006711043.2:c.328_331del, XM_006711043.2:c.330_331del, XM_006711043.1:c.328_331del, XM_006711043.1:c.330_331del, NM_183412.3:c.328_331del, NM_183412.3:c.330_331del, NM_183412.2:c.328_331del, NM_183412.2:c.330_331del, NM_183413.3:c.328_331del, NM_183413.3:c.330_331del, NM_183413.2:c.328_331del, NM_183413.2:c.330_331del, XM_017002842.3:c.328_331del, XM_017002842.3:c.330_331del, XM_017002842.2:c.328_331del, XM_017002842.2:c.330_331del, XM_017002842.1:c.328_331del, XM_017002842.1:c.330_331del, XM_017002844.3:c.328_331del, XM_017002844.3:c.330_331del, XM_017002844.2:c.328_331del, XM_017002844.2:c.330_331del, XM_017002844.1:c.328_331del, XM_017002844.1:c.330_331del, XM_011542435.2:c.328_331del, XM_011542435.2:c.330_331del, XM_011542435.1:c.328_331del, XM_011542435.1:c.330_331del, NM_001014765.2:c.328_331del, NM_001014765.2:c.330_331del, NM_001014765.1:c.328_331del, NM_001014765.1:c.330_331del, NM_001304791.2:c.328_331del, NM_001304791.2:c.330_331del, NM_001304791.1:c.328_331del, NM_001304791.1:c.330_331del, XM_005263537.2:c.328_331del, XM_005263537.2:c.330_331del, XM_005263537.1:c.328_331del, XM_005263537.1:c.330_331del, NM_001330355.2:c.328_331del, NM_001330355.2:c.330_331del, NM_001330355.1:c.328_331del, NM_001330355.1:c.330_331del, NM_001304790.2:c.328_331del, NM_001304790.2:c.330_331del, NM_001304790.1:c.328_331del, NM_001304790.1:c.330_331del, NR_130909.2:n.296TC[2], NR_130909.2:n.296TC[3], NR_130909.1:n.316TC[2], NR_130909.1:n.316TC[3], XM_017002843.2:c.328_331del, XM_017002843.2:c.330_331del, XM_017002843.1:c.328_331del, XM_017002843.1:c.330_331del, XM_047434652.1:c.328_331del, XM_047434652.1:c.330_331del, XM_047434635.1:c.328_331del, XM_047434635.1:c.330_331del, XM_047434631.1:c.328_331del, XM_047434631.1:c.330_331del, XM_047434660.1:c.328_331del, XM_047434660.1:c.330_331del, XM_047434647.1:c.328_331del, XM_047434647.1:c.330_331del, XM_047434637.1:c.328_331del, XM_047434637.1:c.330_331del, XM_047434659.1:c.328_331del, XM_047434659.1:c.330_331del, XR_007064917.1:n.802TC[2], XR_007064917.1:n.802TC[3], XR_007064914.1:n.430TC[2], XR_007064914.1:n.430TC[3], XR_007064919.1:n.529TC[2], XR_007064919.1:n.529TC[3], XR_007064913.1:n.430TC[2], XR_007064913.1:n.430TC[3], XR_007064918.1:n.430TC[2], XR_007064918.1:n.430TC[3], NP_149438.2:p.Ser110fs, NP_149438.2:p.Asp112fs, XP_005263593.1:p.Ser110fs, XP_005263593.1:p.Asp112fs, XP_006711108.1:p.Ser110fs, XP_006711108.1:p.Asp112fs, XP_006711106.1:p.Ser110fs, XP_006711106.1:p.Asp112fs, NP_904319.1:p.Ser110fs, NP_904319.1:p.Asp112fs, NP_904320.1:p.Ser110fs, NP_904320.1:p.Asp112fs, XP_016858331.1:p.Ser110fs, XP_016858331.1:p.Asp112fs, XP_016858333.1:p.Ser110fs, XP_016858333.1:p.Asp112fs, XP_011540737.1:p.Ser110fs, XP_011540737.1:p.Asp112fs, NP_001014765.1:p.Ser110fs, NP_001014765.1:p.Asp112fs, NP_001291720.1:p.Ser110fs, NP_001291720.1:p.Asp112fs, XP_005263594.1:p.Ser110fs, XP_005263594.1:p.Asp112fs, NP_001317284.1:p.Ser110fs, NP_001317284.1:p.Asp112fs, NP_001291719.1:p.Ser110fs, NP_001291719.1:p.Asp112fs, XP_016858332.1:p.Ser110fs, XP_016858332.1:p.Asp112fs, XP_047290608.1:p.Ser110fs, XP_047290608.1:p.Asp112fs, XP_047290591.1:p.Ser110fs, XP_047290591.1:p.Asp112fs, XP_047290587.1:p.Ser110fs, XP_047290587.1:p.Asp112fs, XP_047290616.1:p.Ser110fs, XP_047290616.1:p.Asp112fs, XP_047290603.1:p.Ser110fs, XP_047290603.1:p.Asp112fs, XP_047290593.1:p.Ser110fs, XP_047290593.1:p.Asp112fs, XP_047290615.1:p.Ser110fs, XP_047290615.1:p.Asp112fs

          5.

          rs1470766412 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:11658613 (GRCh38)
            1:11718670 (GRCh37)
            Canonical SPDI:
            NC_000001.11:11658612:T:C
            Gene:
            FBXO44 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.11658613T>C, NC_000001.10:g.11718670T>C, NG_081942.1:g.737T>C, NM_033182.7:c.473T>C, NM_033182.6:c.473T>C, NM_033182.5:c.473T>C, XM_005263536.5:c.444T>C, XM_005263536.4:c.444T>C, XM_005263536.3:c.444T>C, XM_005263536.2:c.444T>C, XM_005263536.1:c.444T>C, XM_006711045.4:c.473T>C, XM_006711045.3:c.473T>C, XM_006711045.2:c.473T>C, XM_006711045.1:c.473T>C, XM_006711043.4:c.444T>C, XM_006711043.3:c.444T>C, XM_006711043.2:c.444T>C, XM_006711043.1:c.444T>C, XM_017002842.3:c.444T>C, XM_017002842.2:c.444T>C, XM_017002842.1:c.444T>C, XM_011542435.2:c.444T>C, XM_011542435.1:c.444T>C, NM_001014765.2:c.473T>C, NM_001014765.1:c.473T>C, NM_001304791.2:c.473T>C, NM_001304791.1:c.473T>C, XM_005263537.2:c.444T>C, XM_005263537.1:c.444T>C, NM_001330355.2:c.444T>C, NM_001330355.1:c.444T>C, XM_017002843.2:c.473T>C, XM_017002843.1:c.473T>C, XM_047434652.1:c.473T>C, XM_047434635.1:c.473T>C, XM_047434631.1:c.444T>C, XM_047434647.1:c.473T>C, XM_047434637.1:c.473T>C, XR_007064917.1:n.951T>C, XR_007064914.1:n.579T>C, XR_007064913.1:n.550T>C, NP_149438.2:p.Ile158Thr, XP_006711108.1:p.Ile158Thr, NP_001014765.1:p.Ile158Thr, NP_001291720.1:p.Ile158Thr, XP_016858332.1:p.Ile158Thr, XP_047290608.1:p.Ile158Thr, XP_047290591.1:p.Ile158Thr, XP_047290603.1:p.Ile158Thr, XP_047290593.1:p.Ile158Thr

            6.

            rs1469458322 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              1:11658837 (GRCh38)
              1:11718894 (GRCh37)
              Canonical SPDI:
              NC_000001.11:11658836:C:A,NC_000001.11:11658836:C:T
              Gene:
              FBXO44 (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.11658837C>A, NC_000001.11:g.11658837C>T, NC_000001.10:g.11718894C>A, NC_000001.10:g.11718894C>T, NG_081942.1:g.961C>A, NG_081942.1:g.961C>T, NM_033182.7:c.590C>A, NM_033182.7:c.590C>T, NM_033182.6:c.590C>A, NM_033182.6:c.590C>T, NM_033182.5:c.590C>A, NM_033182.5:c.590C>T, XM_005263536.5:c.561C>A, XM_005263536.5:c.561C>T, XM_005263536.4:c.561C>A, XM_005263536.4:c.561C>T, XM_005263536.3:c.561C>A, XM_005263536.3:c.561C>T, XM_005263536.2:c.561C>A, XM_005263536.2:c.561C>T, XM_005263536.1:c.561C>A, XM_005263536.1:c.561C>T, XM_006711045.4:c.590C>A, XM_006711045.4:c.590C>T, XM_006711045.3:c.590C>A, XM_006711045.3:c.590C>T, XM_006711045.2:c.590C>A, XM_006711045.2:c.590C>T, XM_006711045.1:c.590C>A, XM_006711045.1:c.590C>T, XM_006711043.4:c.561C>A, XM_006711043.4:c.561C>T, XM_006711043.3:c.561C>A, XM_006711043.3:c.561C>T, XM_006711043.2:c.561C>A, XM_006711043.2:c.561C>T, XM_006711043.1:c.561C>A, XM_006711043.1:c.561C>T, NM_183412.3:c.465C>A, NM_183412.3:c.465C>T, NM_183412.2:c.465C>A, NM_183412.2:c.465C>T, NM_183413.3:c.465C>A, NM_183413.3:c.465C>T, NM_183413.2:c.465C>A, NM_183413.2:c.465C>T, XM_017002842.3:c.561C>A, XM_017002842.3:c.561C>T, XM_017002842.2:c.561C>A, XM_017002842.2:c.561C>T, XM_017002842.1:c.561C>A, XM_017002842.1:c.561C>T, XM_017002844.3:c.465C>A, XM_017002844.3:c.465C>T, XM_017002844.2:c.465C>A, XM_017002844.2:c.465C>T, XM_017002844.1:c.465C>A, XM_017002844.1:c.465C>T, XM_011542435.2:c.561C>A, XM_011542435.2:c.561C>T, XM_011542435.1:c.561C>A, XM_011542435.1:c.561C>T, NM_001014765.2:c.590C>A, NM_001014765.2:c.590C>T, NM_001014765.1:c.590C>A, NM_001014765.1:c.590C>T, NM_001304791.2:c.590C>A, NM_001304791.2:c.590C>T, NM_001304791.1:c.590C>A, NM_001304791.1:c.590C>T, XM_005263537.2:c.561C>A, XM_005263537.2:c.561C>T, XM_005263537.1:c.561C>A, XM_005263537.1:c.561C>T, NM_001330355.2:c.561C>A, NM_001330355.2:c.561C>T, NM_001330355.1:c.561C>A, NM_001330355.1:c.561C>T, NM_001304790.2:c.465C>A, NM_001304790.2:c.465C>T, NM_001304790.1:c.465C>A, NM_001304790.1:c.465C>T, NR_130909.2:n.437C>A, NR_130909.2:n.437C>T, NR_130909.1:n.457C>A, NR_130909.1:n.457C>T, XM_017002843.2:c.590C>A, XM_017002843.2:c.590C>T, XM_017002843.1:c.590C>A, XM_017002843.1:c.590C>T, XM_047434652.1:c.590C>A, XM_047434652.1:c.590C>T, XM_047434635.1:c.590C>A, XM_047434635.1:c.590C>T, XM_047434631.1:c.561C>A, XM_047434631.1:c.561C>T, XM_047434660.1:c.465C>A, XM_047434660.1:c.465C>T, XM_047434647.1:c.590C>A, XM_047434647.1:c.590C>T, XM_047434637.1:c.590C>A, XM_047434637.1:c.590C>T, XM_047434659.1:c.465C>A, XM_047434659.1:c.465C>T, XR_007064917.1:n.1068C>A, XR_007064917.1:n.1068C>T, XR_007064914.1:n.696C>A, XR_007064914.1:n.696C>T, XR_007064919.1:n.670C>A, XR_007064919.1:n.670C>T, XR_007064913.1:n.667C>A, XR_007064913.1:n.667C>T, XR_007064918.1:n.571C>A, XR_007064918.1:n.571C>T, NP_149438.2:p.Thr197Asn, NP_149438.2:p.Thr197Ile, XP_005263593.1:p.Asp187Glu, XP_006711108.1:p.Thr197Asn, XP_006711108.1:p.Thr197Ile, XP_006711106.1:p.Asp187Glu, NP_904319.1:p.Asp155Glu, NP_904320.1:p.Asp155Glu, XP_016858331.1:p.Asp187Glu, XP_016858333.1:p.Asp155Glu, XP_011540737.1:p.Asp187Glu, NP_001014765.1:p.Thr197Asn, NP_001014765.1:p.Thr197Ile, NP_001291720.1:p.Thr197Asn, NP_001291720.1:p.Thr197Ile, XP_005263594.1:p.Asp187Glu, NP_001317284.1:p.Asp187Glu, NP_001291719.1:p.Asp155Glu, XP_016858332.1:p.Thr197Asn, XP_016858332.1:p.Thr197Ile, XP_047290608.1:p.Thr197Asn, XP_047290608.1:p.Thr197Ile, XP_047290591.1:p.Thr197Asn, XP_047290591.1:p.Thr197Ile, XP_047290587.1:p.Asp187Glu, XP_047290616.1:p.Asp155Glu, XP_047290603.1:p.Thr197Asn, XP_047290603.1:p.Thr197Ile, XP_047290593.1:p.Thr197Asn, XP_047290593.1:p.Thr197Ile, XP_047290615.1:p.Asp155Glu

              7.

              rs1468111299 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:11658280 (GRCh38)
                1:11718337 (GRCh37)
                Canonical SPDI:
                NC_000001.11:11658279:C:T
                Gene:
                FBXO44 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                NC_000001.11:g.11658280C>T, NC_000001.10:g.11718337C>T, NG_081942.1:g.404C>T, NM_033182.7:c.279C>T, NM_033182.6:c.279C>T, NM_033182.5:c.279C>T, XM_005263536.5:c.279C>T, XM_005263536.4:c.279C>T, XM_005263536.3:c.279C>T, XM_005263536.2:c.279C>T, XM_005263536.1:c.279C>T, XM_006711045.4:c.279C>T, XM_006711045.3:c.279C>T, XM_006711045.2:c.279C>T, XM_006711045.1:c.279C>T, XM_006711043.4:c.279C>T, XM_006711043.3:c.279C>T, XM_006711043.2:c.279C>T, XM_006711043.1:c.279C>T, NM_183412.3:c.279C>T, NM_183412.2:c.279C>T, NM_183413.3:c.279C>T, NM_183413.2:c.279C>T, XM_017002842.3:c.279C>T, XM_017002842.2:c.279C>T, XM_017002842.1:c.279C>T, XM_017002844.3:c.279C>T, XM_017002844.2:c.279C>T, XM_017002844.1:c.279C>T, XM_011542435.2:c.279C>T, XM_011542435.1:c.279C>T, NM_001014765.2:c.279C>T, NM_001014765.1:c.279C>T, NM_001304791.2:c.279C>T, NM_001304791.1:c.279C>T, XM_005263537.2:c.279C>T, XM_005263537.1:c.279C>T, NM_001330355.2:c.279C>T, NM_001330355.1:c.279C>T, NM_001304790.2:c.279C>T, NM_001304790.1:c.279C>T, NR_130909.2:n.251C>T, NR_130909.1:n.271C>T, XM_017002843.2:c.279C>T, XM_017002843.1:c.279C>T, XM_047434652.1:c.279C>T, XM_047434635.1:c.279C>T, XM_047434631.1:c.279C>T, XM_047434660.1:c.279C>T, XM_047434647.1:c.279C>T, XM_047434637.1:c.279C>T, XM_047434659.1:c.279C>T, XR_007064917.1:n.757C>T, XR_007064914.1:n.385C>T, XR_007064919.1:n.484C>T, XR_007064913.1:n.385C>T, XR_007064918.1:n.385C>T

                8.

                rs1466928282 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:11658832 (GRCh38)
                  1:11718889 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:11658831:G:A
                  Gene:
                  FBXO44 (Varview)
                  Functional Consequence:
                  synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000001.11:g.11658832G>A, NC_000001.10:g.11718889G>A, NG_081942.1:g.956G>A, NM_033182.7:c.585G>A, NM_033182.6:c.585G>A, NM_033182.5:c.585G>A, XM_005263536.5:c.556G>A, XM_005263536.4:c.556G>A, XM_005263536.3:c.556G>A, XM_005263536.2:c.556G>A, XM_005263536.1:c.556G>A, XM_006711045.4:c.585G>A, XM_006711045.3:c.585G>A, XM_006711045.2:c.585G>A, XM_006711045.1:c.585G>A, XM_006711043.4:c.556G>A, XM_006711043.3:c.556G>A, XM_006711043.2:c.556G>A, XM_006711043.1:c.556G>A, NM_183412.3:c.460G>A, NM_183412.2:c.460G>A, NM_183413.3:c.460G>A, NM_183413.2:c.460G>A, XM_017002842.3:c.556G>A, XM_017002842.2:c.556G>A, XM_017002842.1:c.556G>A, XM_017002844.3:c.460G>A, XM_017002844.2:c.460G>A, XM_017002844.1:c.460G>A, XM_011542435.2:c.556G>A, XM_011542435.1:c.556G>A, NM_001014765.2:c.585G>A, NM_001014765.1:c.585G>A, NM_001304791.2:c.585G>A, NM_001304791.1:c.585G>A, XM_005263537.2:c.556G>A, XM_005263537.1:c.556G>A, NM_001330355.2:c.556G>A, NM_001330355.1:c.556G>A, NM_001304790.2:c.460G>A, NM_001304790.1:c.460G>A, NR_130909.2:n.432G>A, NR_130909.1:n.452G>A, XM_017002843.2:c.585G>A, XM_017002843.1:c.585G>A, XM_047434652.1:c.585G>A, XM_047434635.1:c.585G>A, XM_047434631.1:c.556G>A, XM_047434660.1:c.460G>A, XM_047434647.1:c.585G>A, XM_047434637.1:c.585G>A, XM_047434659.1:c.460G>A, XR_007064917.1:n.1063G>A, XR_007064914.1:n.691G>A, XR_007064919.1:n.665G>A, XR_007064913.1:n.662G>A, XR_007064918.1:n.566G>A, XP_005263593.1:p.Gly186Ser, XP_006711106.1:p.Gly186Ser, NP_904319.1:p.Gly154Ser, NP_904320.1:p.Gly154Ser, XP_016858331.1:p.Gly186Ser, XP_016858333.1:p.Gly154Ser, XP_011540737.1:p.Gly186Ser, XP_005263594.1:p.Gly186Ser, NP_001317284.1:p.Gly186Ser, NP_001291719.1:p.Gly154Ser, XP_047290587.1:p.Gly186Ser, XP_047290616.1:p.Gly154Ser, XP_047290615.1:p.Gly154Ser

                  9.

                  rs1465791018 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    1:11661273 (GRCh38)
                    1:11721330 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:11661272:A:T
                    Gene:
                    FBXO44 (Varview)
                    Functional Consequence:
                    terminator_codon_variant,stop_lost,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.11661273A>T, NC_000001.10:g.11721330A>T, NM_033182.7:c.768A>T, NM_033182.6:c.768A>T, NM_033182.5:c.768A>T, XM_005263536.5:c.739A>T, XM_005263536.4:c.739A>T, XM_005263536.3:c.739A>T, XM_005263536.2:c.739A>T, XM_005263536.1:c.739A>T, XM_006711045.4:c.768A>T, XM_006711045.3:c.768A>T, XM_006711045.2:c.768A>T, XM_006711045.1:c.768A>T, XM_006711043.4:c.739A>T, XM_006711043.3:c.739A>T, XM_006711043.2:c.739A>T, XM_006711043.1:c.739A>T, NM_183412.3:c.643A>T, NM_183412.2:c.643A>T, NM_183413.3:c.643A>T, NM_183413.2:c.643A>T, XM_017002842.3:c.739A>T, XM_017002842.2:c.739A>T, XM_017002842.1:c.739A>T, XM_017002844.3:c.643A>T, XM_017002844.2:c.643A>T, XM_017002844.1:c.643A>T, XM_011542435.2:c.739A>T, XM_011542435.1:c.739A>T, NM_001014765.2:c.768A>T, NM_001014765.1:c.768A>T, NM_001304791.2:c.768A>T, NM_001304791.1:c.768A>T, XM_005263537.2:c.739A>T, XM_005263537.1:c.739A>T, NM_001330355.2:c.739A>T, NM_001330355.1:c.739A>T, NM_001304790.2:c.643A>T, NM_001304790.1:c.643A>T, NR_130909.2:n.615A>T, NR_130909.1:n.635A>T, XM_017002843.2:c.768A>T, XM_017002843.1:c.768A>T, XM_047434652.1:c.768A>T, XM_047434635.1:c.768A>T, XM_047434631.1:c.739A>T, XM_047434660.1:c.643A>T, XM_047434647.1:c.768A>T, XM_047434637.1:c.768A>T, XM_047434659.1:c.643A>T, XR_007064917.1:n.1246A>T, XR_007064914.1:n.874A>T, XR_007064919.1:n.848A>T, XR_007064913.1:n.845A>T, XR_007064918.1:n.749A>T, NP_149438.2:p.Ter256Cys, XP_005263593.1:p.Thr247Ser, XP_006711108.1:p.Ter256Cys, XP_006711106.1:p.Thr247Ser, NP_904319.1:p.Thr215Ser, NP_904320.1:p.Thr215Ser, XP_016858331.1:p.Thr247Ser, XP_016858333.1:p.Thr215Ser, XP_011540737.1:p.Thr247Ser, NP_001014765.1:p.Ter256Cys, NP_001291720.1:p.Ter256Cys, XP_005263594.1:p.Thr247Ser, NP_001317284.1:p.Thr247Ser, NP_001291719.1:p.Thr215Ser, XP_016858332.1:p.Ter256Cys, XP_047290608.1:p.Ter256Cys, XP_047290591.1:p.Ter256Cys, XP_047290587.1:p.Thr247Ser, XP_047290616.1:p.Thr215Ser, XP_047290603.1:p.Ter256Cys, XP_047290593.1:p.Ter256Cys, XP_047290615.1:p.Thr215Ser

                    10.

                    rs1459379639 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CACG>- [Show Flanks]
                      Chromosome:
                      1:11655893 (GRCh38)
                      1:11715950 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:11655888:CACGCACG:CACG
                      Gene:
                      FBXO2 (Varview), FBXO44 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CACGCACG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.11655889CACG[1], NC_000001.10:g.11715946CACG[1], NM_033182.7:c.58_61del, NM_033182.6:c.58_61del, NM_033182.5:c.58_61del, XM_005263536.5:c.58_61del, XM_005263536.4:c.58_61del, XM_005263536.3:c.58_61del, XM_005263536.2:c.58_61del, XM_005263536.1:c.58_61del, XM_006711045.4:c.58_61del, XM_006711045.3:c.58_61del, XM_006711045.2:c.58_61del, XM_006711045.1:c.58_61del, XM_006711043.4:c.58_61del, XM_006711043.3:c.58_61del, XM_006711043.2:c.58_61del, XM_006711043.1:c.58_61del, NM_183412.3:c.58_61del, NM_183412.2:c.58_61del, NM_183413.3:c.58_61del, NM_183413.2:c.58_61del, XM_017002842.3:c.58_61del, XM_017002842.2:c.58_61del, XM_017002842.1:c.58_61del, XM_017002844.3:c.58_61del, XM_017002844.2:c.58_61del, XM_017002844.1:c.58_61del, XM_011542435.2:c.58_61del, XM_011542435.1:c.58_61del, NM_001014765.2:c.58_61del, NM_001014765.1:c.58_61del, NM_001304791.2:c.58_61del, NM_001304791.1:c.58_61del, XM_005263537.2:c.58_61del, XM_005263537.1:c.58_61del, NM_001330355.2:c.58_61del, NM_001330355.1:c.58_61del, NM_001304790.2:c.58_61del, NM_001304790.1:c.58_61del, XM_017002843.2:c.58_61del, XM_017002843.1:c.58_61del, XM_047434652.1:c.58_61del, XM_047434635.1:c.58_61del, XM_047434631.1:c.58_61del, XM_047434660.1:c.58_61del, XM_047434647.1:c.58_61del, XM_047434637.1:c.58_61del, XM_047434659.1:c.58_61del, XR_007064917.1:n.532CACG[1], XR_007064914.1:n.160CACG[1], XR_007064919.1:n.259CACG[1], XR_007064913.1:n.160CACG[1], XR_007064918.1:n.160CACG[1], NP_149438.2:p.His20fs, XP_005263593.1:p.His20fs, XP_006711108.1:p.His20fs, XP_006711106.1:p.His20fs, NP_904319.1:p.His20fs, NP_904320.1:p.His20fs, XP_016858331.1:p.His20fs, XP_016858333.1:p.His20fs, XP_011540737.1:p.His20fs, NP_001014765.1:p.His20fs, NP_001291720.1:p.His20fs, XP_005263594.1:p.His20fs, NP_001317284.1:p.His20fs, NP_001291719.1:p.His20fs, XP_016858332.1:p.His20fs, XP_047290608.1:p.His20fs, XP_047290591.1:p.His20fs, XP_047290587.1:p.His20fs, XP_047290616.1:p.His20fs, XP_047290603.1:p.His20fs, XP_047290593.1:p.His20fs, XP_047290615.1:p.His20fs

                      11.

                      rs1447566799 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:11655994 (GRCh38)
                        1:11716051 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:11655993:A:G
                        Gene:
                        FBXO2 (Varview), FBXO44 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.11655994A>G, NC_000001.10:g.11716051A>G, NM_033182.7:c.159A>G, NM_033182.6:c.159A>G, NM_033182.5:c.159A>G, XM_005263536.5:c.159A>G, XM_005263536.4:c.159A>G, XM_005263536.3:c.159A>G, XM_005263536.2:c.159A>G, XM_005263536.1:c.159A>G, XM_006711045.4:c.159A>G, XM_006711045.3:c.159A>G, XM_006711045.2:c.159A>G, XM_006711045.1:c.159A>G, XM_006711043.4:c.159A>G, XM_006711043.3:c.159A>G, XM_006711043.2:c.159A>G, XM_006711043.1:c.159A>G, NM_183412.3:c.159A>G, NM_183412.2:c.159A>G, NM_183413.3:c.159A>G, NM_183413.2:c.159A>G, XM_017002842.3:c.159A>G, XM_017002842.2:c.159A>G, XM_017002842.1:c.159A>G, XM_017002844.3:c.159A>G, XM_017002844.2:c.159A>G, XM_017002844.1:c.159A>G, XM_011542435.2:c.159A>G, XM_011542435.1:c.159A>G, NM_001014765.2:c.159A>G, NM_001014765.1:c.159A>G, NM_001304791.2:c.159A>G, NM_001304791.1:c.159A>G, XM_005263537.2:c.159A>G, XM_005263537.1:c.159A>G, NM_001330355.2:c.159A>G, NM_001330355.1:c.159A>G, NM_001304790.2:c.159A>G, NM_001304790.1:c.159A>G, NR_130909.2:n.131A>G, NR_130909.1:n.151A>G, XM_017002843.2:c.159A>G, XM_017002843.1:c.159A>G, XM_047434652.1:c.159A>G, XM_047434635.1:c.159A>G, XM_047434631.1:c.159A>G, XM_047434660.1:c.159A>G, XM_047434647.1:c.159A>G, XM_047434637.1:c.159A>G, XM_047434659.1:c.159A>G, XR_007064917.1:n.637A>G, XR_007064914.1:n.265A>G, XR_007064919.1:n.364A>G, XR_007064913.1:n.265A>G, XR_007064918.1:n.265A>G

                        12.

                        rs1446958523 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:11661223 (GRCh38)
                          1:11721280 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:11661222:G:A
                          Gene:
                          FBXO44 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000001.11:g.11661223G>A, NC_000001.10:g.11721280G>A, NM_033182.7:c.718G>A, NM_033182.6:c.718G>A, NM_033182.5:c.718G>A, XM_005263536.5:c.689G>A, XM_005263536.4:c.689G>A, XM_005263536.3:c.689G>A, XM_005263536.2:c.689G>A, XM_005263536.1:c.689G>A, XM_006711045.4:c.718G>A, XM_006711045.3:c.718G>A, XM_006711045.2:c.718G>A, XM_006711045.1:c.718G>A, XM_006711043.4:c.689G>A, XM_006711043.3:c.689G>A, XM_006711043.2:c.689G>A, XM_006711043.1:c.689G>A, NM_183412.3:c.593G>A, NM_183412.2:c.593G>A, NM_183413.3:c.593G>A, NM_183413.2:c.593G>A, XM_017002842.3:c.689G>A, XM_017002842.2:c.689G>A, XM_017002842.1:c.689G>A, XM_017002844.3:c.593G>A, XM_017002844.2:c.593G>A, XM_017002844.1:c.593G>A, XM_011542435.2:c.689G>A, XM_011542435.1:c.689G>A, NM_001014765.2:c.718G>A, NM_001014765.1:c.718G>A, NM_001304791.2:c.718G>A, NM_001304791.1:c.718G>A, XM_005263537.2:c.689G>A, XM_005263537.1:c.689G>A, NM_001330355.2:c.689G>A, NM_001330355.1:c.689G>A, NM_001304790.2:c.593G>A, NM_001304790.1:c.593G>A, NR_130909.2:n.565G>A, NR_130909.1:n.585G>A, XM_017002843.2:c.718G>A, XM_017002843.1:c.718G>A, XM_047434652.1:c.718G>A, XM_047434635.1:c.718G>A, XM_047434631.1:c.689G>A, XM_047434660.1:c.593G>A, XM_047434647.1:c.718G>A, XM_047434637.1:c.718G>A, XM_047434659.1:c.593G>A, XR_007064917.1:n.1196G>A, XR_007064914.1:n.824G>A, XR_007064919.1:n.798G>A, XR_007064913.1:n.795G>A, XR_007064918.1:n.699G>A, NP_149438.2:p.Gly240Ser, XP_005263593.1:p.Arg230Gln, XP_006711108.1:p.Gly240Ser, XP_006711106.1:p.Arg230Gln, NP_904319.1:p.Arg198Gln, NP_904320.1:p.Arg198Gln, XP_016858331.1:p.Arg230Gln, XP_016858333.1:p.Arg198Gln, XP_011540737.1:p.Arg230Gln, NP_001014765.1:p.Gly240Ser, NP_001291720.1:p.Gly240Ser, XP_005263594.1:p.Arg230Gln, NP_001317284.1:p.Arg230Gln, NP_001291719.1:p.Arg198Gln, XP_016858332.1:p.Gly240Ser, XP_047290608.1:p.Gly240Ser, XP_047290591.1:p.Gly240Ser, XP_047290587.1:p.Arg230Gln, XP_047290616.1:p.Arg198Gln, XP_047290603.1:p.Gly240Ser, XP_047290593.1:p.Gly240Ser, XP_047290615.1:p.Arg198Gln

                          13.

                          rs1446817030 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            1:11658267 (GRCh38)
                            1:11718324 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:11658266:A:
                            Gene:
                            FBXO44 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.11658267del, NC_000001.10:g.11718324del, NG_081942.1:g.391del, NM_033182.7:c.266del, NM_033182.6:c.266del, NM_033182.5:c.266del, XM_005263536.5:c.266del, XM_005263536.4:c.266del, XM_005263536.3:c.266del, XM_005263536.2:c.266del, XM_005263536.1:c.266del, XM_006711045.4:c.266del, XM_006711045.3:c.266del, XM_006711045.2:c.266del, XM_006711045.1:c.266del, XM_006711043.4:c.266del, XM_006711043.3:c.266del, XM_006711043.2:c.266del, XM_006711043.1:c.266del, NM_183412.3:c.266del, NM_183412.2:c.266del, NM_183413.3:c.266del, NM_183413.2:c.266del, XM_017002842.3:c.266del, XM_017002842.2:c.266del, XM_017002842.1:c.266del, XM_017002844.3:c.266del, XM_017002844.2:c.266del, XM_017002844.1:c.266del, XM_011542435.2:c.266del, XM_011542435.1:c.266del, NM_001014765.2:c.266del, NM_001014765.1:c.266del, NM_001304791.2:c.266del, NM_001304791.1:c.266del, XM_005263537.2:c.266del, XM_005263537.1:c.266del, NM_001330355.2:c.266del, NM_001330355.1:c.266del, NM_001304790.2:c.266del, NM_001304790.1:c.266del, NR_130909.2:n.238del, NR_130909.1:n.258del, XM_017002843.2:c.266del, XM_017002843.1:c.266del, XM_047434652.1:c.266del, XM_047434635.1:c.266del, XM_047434631.1:c.266del, XM_047434660.1:c.266del, XM_047434647.1:c.266del, XM_047434637.1:c.266del, XM_047434659.1:c.266del, XR_007064917.1:n.744del, XR_007064914.1:n.372del, XR_007064919.1:n.471del, XR_007064913.1:n.372del, XR_007064918.1:n.372del, NP_149438.2:p.Glu89fs, XP_005263593.1:p.Glu89fs, XP_006711108.1:p.Glu89fs, XP_006711106.1:p.Glu89fs, NP_904319.1:p.Glu89fs, NP_904320.1:p.Glu89fs, XP_016858331.1:p.Glu89fs, XP_016858333.1:p.Glu89fs, XP_011540737.1:p.Glu89fs, NP_001014765.1:p.Glu89fs, NP_001291720.1:p.Glu89fs, XP_005263594.1:p.Glu89fs, NP_001317284.1:p.Glu89fs, NP_001291719.1:p.Glu89fs, XP_016858332.1:p.Glu89fs, XP_047290608.1:p.Glu89fs, XP_047290591.1:p.Glu89fs, XP_047290587.1:p.Glu89fs, XP_047290616.1:p.Glu89fs, XP_047290603.1:p.Glu89fs, XP_047290593.1:p.Glu89fs, XP_047290615.1:p.Glu89fs

                            14.

                            rs1446640793 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:11655883 (GRCh38)
                              1:11715940 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:11655882:G:A
                              Gene:
                              FBXO2 (Varview), FBXO44 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (GnomAD_exomes)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.11655883G>A, NC_000001.10:g.11715940G>A, NM_033182.7:c.48G>A, NM_033182.6:c.48G>A, NM_033182.5:c.48G>A, XM_005263536.5:c.48G>A, XM_005263536.4:c.48G>A, XM_005263536.3:c.48G>A, XM_005263536.2:c.48G>A, XM_005263536.1:c.48G>A, XM_006711045.4:c.48G>A, XM_006711045.3:c.48G>A, XM_006711045.2:c.48G>A, XM_006711045.1:c.48G>A, XM_006711043.4:c.48G>A, XM_006711043.3:c.48G>A, XM_006711043.2:c.48G>A, XM_006711043.1:c.48G>A, NM_183412.3:c.48G>A, NM_183412.2:c.48G>A, NM_183413.3:c.48G>A, NM_183413.2:c.48G>A, XM_017002842.3:c.48G>A, XM_017002842.2:c.48G>A, XM_017002842.1:c.48G>A, XM_017002844.3:c.48G>A, XM_017002844.2:c.48G>A, XM_017002844.1:c.48G>A, XM_011542435.2:c.48G>A, XM_011542435.1:c.48G>A, NM_001014765.2:c.48G>A, NM_001014765.1:c.48G>A, NM_001304791.2:c.48G>A, NM_001304791.1:c.48G>A, XM_005263537.2:c.48G>A, XM_005263537.1:c.48G>A, NM_001330355.2:c.48G>A, NM_001330355.1:c.48G>A, NM_001304790.2:c.48G>A, NM_001304790.1:c.48G>A, XM_017002843.2:c.48G>A, XM_017002843.1:c.48G>A, XM_047434652.1:c.48G>A, XM_047434635.1:c.48G>A, XM_047434631.1:c.48G>A, XM_047434660.1:c.48G>A, XM_047434647.1:c.48G>A, XM_047434637.1:c.48G>A, XM_047434659.1:c.48G>A, XR_007064917.1:n.526G>A, XR_007064914.1:n.154G>A, XR_007064919.1:n.253G>A, XR_007064913.1:n.154G>A, XR_007064918.1:n.154G>A

                              15.

                              rs1437024876 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:11658845 (GRCh38)
                                1:11718902 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:11658844:C:T
                                Gene:
                                FBXO44 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.11658845C>T, NC_000001.10:g.11718902C>T, NG_081942.1:g.969C>T, NM_033182.7:c.598C>T, NM_033182.6:c.598C>T, NM_033182.5:c.598C>T, XM_005263536.5:c.569C>T, XM_005263536.4:c.569C>T, XM_005263536.3:c.569C>T, XM_005263536.2:c.569C>T, XM_005263536.1:c.569C>T, XM_006711045.4:c.598C>T, XM_006711045.3:c.598C>T, XM_006711045.2:c.598C>T, XM_006711045.1:c.598C>T, XM_006711043.4:c.569C>T, XM_006711043.3:c.569C>T, XM_006711043.2:c.569C>T, XM_006711043.1:c.569C>T, NM_183412.3:c.473C>T, NM_183412.2:c.473C>T, NM_183413.3:c.473C>T, NM_183413.2:c.473C>T, XM_017002842.3:c.569C>T, XM_017002842.2:c.569C>T, XM_017002842.1:c.569C>T, XM_017002844.3:c.473C>T, XM_017002844.2:c.473C>T, XM_017002844.1:c.473C>T, XM_011542435.2:c.569C>T, XM_011542435.1:c.569C>T, NM_001014765.2:c.598C>T, NM_001014765.1:c.598C>T, NM_001304791.2:c.598C>T, NM_001304791.1:c.598C>T, XM_005263537.2:c.569C>T, XM_005263537.1:c.569C>T, NM_001330355.2:c.569C>T, NM_001330355.1:c.569C>T, NM_001304790.2:c.473C>T, NM_001304790.1:c.473C>T, NR_130909.2:n.445C>T, NR_130909.1:n.465C>T, XM_017002843.2:c.598C>T, XM_017002843.1:c.598C>T, XM_047434652.1:c.598C>T, XM_047434635.1:c.598C>T, XM_047434631.1:c.569C>T, XM_047434660.1:c.473C>T, XM_047434647.1:c.598C>T, XM_047434637.1:c.598C>T, XM_047434659.1:c.473C>T, XR_007064917.1:n.1076C>T, XR_007064914.1:n.704C>T, XR_007064919.1:n.678C>T, XR_007064913.1:n.675C>T, XR_007064918.1:n.579C>T, NP_149438.2:p.Gln200Ter, XP_005263593.1:p.Ala190Val, XP_006711108.1:p.Gln200Ter, XP_006711106.1:p.Ala190Val, NP_904319.1:p.Ala158Val, NP_904320.1:p.Ala158Val, XP_016858331.1:p.Ala190Val, XP_016858333.1:p.Ala158Val, XP_011540737.1:p.Ala190Val, NP_001014765.1:p.Gln200Ter, NP_001291720.1:p.Gln200Ter, XP_005263594.1:p.Ala190Val, NP_001317284.1:p.Ala190Val, NP_001291719.1:p.Ala158Val, XP_016858332.1:p.Gln200Ter, XP_047290608.1:p.Gln200Ter, XP_047290591.1:p.Gln200Ter, XP_047290587.1:p.Ala190Val, XP_047290616.1:p.Ala158Val, XP_047290603.1:p.Gln200Ter, XP_047290593.1:p.Gln200Ter, XP_047290615.1:p.Ala158Val

                                16.

                                rs1435644820 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:11655925 (GRCh38)
                                  1:11715982 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:11655924:C:T
                                  Gene:
                                  FBXO2 (Varview), FBXO44 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.11655925C>T, NC_000001.10:g.11715982C>T, NM_033182.7:c.90C>T, NM_033182.6:c.90C>T, NM_033182.5:c.90C>T, XM_005263536.5:c.90C>T, XM_005263536.4:c.90C>T, XM_005263536.3:c.90C>T, XM_005263536.2:c.90C>T, XM_005263536.1:c.90C>T, XM_006711045.4:c.90C>T, XM_006711045.3:c.90C>T, XM_006711045.2:c.90C>T, XM_006711045.1:c.90C>T, XM_006711043.4:c.90C>T, XM_006711043.3:c.90C>T, XM_006711043.2:c.90C>T, XM_006711043.1:c.90C>T, NM_183412.3:c.90C>T, NM_183412.2:c.90C>T, NM_183413.3:c.90C>T, NM_183413.2:c.90C>T, XM_017002842.3:c.90C>T, XM_017002842.2:c.90C>T, XM_017002842.1:c.90C>T, XM_017002844.3:c.90C>T, XM_017002844.2:c.90C>T, XM_017002844.1:c.90C>T, XM_011542435.2:c.90C>T, XM_011542435.1:c.90C>T, NM_001014765.2:c.90C>T, NM_001014765.1:c.90C>T, NM_001304791.2:c.90C>T, NM_001304791.1:c.90C>T, XM_005263537.2:c.90C>T, XM_005263537.1:c.90C>T, NM_001330355.2:c.90C>T, NM_001330355.1:c.90C>T, NM_001304790.2:c.90C>T, NM_001304790.1:c.90C>T, XM_017002843.2:c.90C>T, XM_017002843.1:c.90C>T, XM_047434652.1:c.90C>T, XM_047434635.1:c.90C>T, XM_047434631.1:c.90C>T, XM_047434660.1:c.90C>T, XM_047434647.1:c.90C>T, XM_047434637.1:c.90C>T, XM_047434659.1:c.90C>T, XR_007064917.1:n.568C>T, XR_007064914.1:n.196C>T, XR_007064919.1:n.295C>T, XR_007064913.1:n.196C>T, XR_007064918.1:n.196C>T

                                  17.

                                  rs1430259795 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    1:11655866 (GRCh38)
                                    1:11715923 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:11655865:G:A,NC_000001.11:11655865:G:C
                                    Gene:
                                    FBXO2 (Varview), FBXO44 (Varview)
                                    Functional Consequence:
                                    missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.11655866G>A, NC_000001.11:g.11655866G>C, NC_000001.10:g.11715923G>A, NC_000001.10:g.11715923G>C, NM_033182.7:c.31G>A, NM_033182.7:c.31G>C, NM_033182.6:c.31G>A, NM_033182.6:c.31G>C, NM_033182.5:c.31G>A, NM_033182.5:c.31G>C, XM_005263536.5:c.31G>A, XM_005263536.5:c.31G>C, XM_005263536.4:c.31G>A, XM_005263536.4:c.31G>C, XM_005263536.3:c.31G>A, XM_005263536.3:c.31G>C, XM_005263536.2:c.31G>A, XM_005263536.2:c.31G>C, XM_005263536.1:c.31G>A, XM_005263536.1:c.31G>C, XM_006711045.4:c.31G>A, XM_006711045.4:c.31G>C, XM_006711045.3:c.31G>A, XM_006711045.3:c.31G>C, XM_006711045.2:c.31G>A, XM_006711045.2:c.31G>C, XM_006711045.1:c.31G>A, XM_006711045.1:c.31G>C, XM_006711043.4:c.31G>A, XM_006711043.4:c.31G>C, XM_006711043.3:c.31G>A, XM_006711043.3:c.31G>C, XM_006711043.2:c.31G>A, XM_006711043.2:c.31G>C, XM_006711043.1:c.31G>A, XM_006711043.1:c.31G>C, NM_183412.3:c.31G>A, NM_183412.3:c.31G>C, NM_183412.2:c.31G>A, NM_183412.2:c.31G>C, NM_183413.3:c.31G>A, NM_183413.3:c.31G>C, NM_183413.2:c.31G>A, NM_183413.2:c.31G>C, XM_017002842.3:c.31G>A, XM_017002842.3:c.31G>C, XM_017002842.2:c.31G>A, XM_017002842.2:c.31G>C, XM_017002842.1:c.31G>A, XM_017002842.1:c.31G>C, XM_017002844.3:c.31G>A, XM_017002844.3:c.31G>C, XM_017002844.2:c.31G>A, XM_017002844.2:c.31G>C, XM_017002844.1:c.31G>A, XM_017002844.1:c.31G>C, XM_011542435.2:c.31G>A, XM_011542435.2:c.31G>C, XM_011542435.1:c.31G>A, XM_011542435.1:c.31G>C, NM_001014765.2:c.31G>A, NM_001014765.2:c.31G>C, NM_001014765.1:c.31G>A, NM_001014765.1:c.31G>C, NM_001304791.2:c.31G>A, NM_001304791.2:c.31G>C, NM_001304791.1:c.31G>A, NM_001304791.1:c.31G>C, XM_005263537.2:c.31G>A, XM_005263537.2:c.31G>C, XM_005263537.1:c.31G>A, XM_005263537.1:c.31G>C, NM_001330355.2:c.31G>A, NM_001330355.2:c.31G>C, NM_001330355.1:c.31G>A, NM_001330355.1:c.31G>C, NM_001304790.2:c.31G>A, NM_001304790.2:c.31G>C, NM_001304790.1:c.31G>A, NM_001304790.1:c.31G>C, XM_017002843.2:c.31G>A, XM_017002843.2:c.31G>C, XM_017002843.1:c.31G>A, XM_017002843.1:c.31G>C, XM_047434652.1:c.31G>A, XM_047434652.1:c.31G>C, XM_047434635.1:c.31G>A, XM_047434635.1:c.31G>C, XM_047434631.1:c.31G>A, XM_047434631.1:c.31G>C, XM_047434660.1:c.31G>A, XM_047434660.1:c.31G>C, XM_047434647.1:c.31G>A, XM_047434647.1:c.31G>C, XM_047434637.1:c.31G>A, XM_047434637.1:c.31G>C, XM_047434659.1:c.31G>A, XM_047434659.1:c.31G>C, XR_007064917.1:n.509G>A, XR_007064917.1:n.509G>C, XR_007064914.1:n.137G>A, XR_007064914.1:n.137G>C, XR_007064919.1:n.236G>A, XR_007064919.1:n.236G>C, XR_007064913.1:n.137G>A, XR_007064913.1:n.137G>C, XR_007064918.1:n.137G>A, XR_007064918.1:n.137G>C, NP_149438.2:p.Glu11Lys, NP_149438.2:p.Glu11Gln, XP_005263593.1:p.Glu11Lys, XP_005263593.1:p.Glu11Gln, XP_006711108.1:p.Glu11Lys, XP_006711108.1:p.Glu11Gln, XP_006711106.1:p.Glu11Lys, XP_006711106.1:p.Glu11Gln, NP_904319.1:p.Glu11Lys, NP_904319.1:p.Glu11Gln, NP_904320.1:p.Glu11Lys, NP_904320.1:p.Glu11Gln, XP_016858331.1:p.Glu11Lys, XP_016858331.1:p.Glu11Gln, XP_016858333.1:p.Glu11Lys, XP_016858333.1:p.Glu11Gln, XP_011540737.1:p.Glu11Lys, XP_011540737.1:p.Glu11Gln, NP_001014765.1:p.Glu11Lys, NP_001014765.1:p.Glu11Gln, NP_001291720.1:p.Glu11Lys, NP_001291720.1:p.Glu11Gln, XP_005263594.1:p.Glu11Lys, XP_005263594.1:p.Glu11Gln, NP_001317284.1:p.Glu11Lys, NP_001317284.1:p.Glu11Gln, NP_001291719.1:p.Glu11Lys, NP_001291719.1:p.Glu11Gln, XP_016858332.1:p.Glu11Lys, XP_016858332.1:p.Glu11Gln, XP_047290608.1:p.Glu11Lys, XP_047290608.1:p.Glu11Gln, XP_047290591.1:p.Glu11Lys, XP_047290591.1:p.Glu11Gln, XP_047290587.1:p.Glu11Lys, XP_047290587.1:p.Glu11Gln, XP_047290616.1:p.Glu11Lys, XP_047290616.1:p.Glu11Gln, XP_047290603.1:p.Glu11Lys, XP_047290603.1:p.Glu11Gln, XP_047290593.1:p.Glu11Lys, XP_047290593.1:p.Glu11Gln, XP_047290615.1:p.Glu11Lys, XP_047290615.1:p.Glu11Gln

                                    18.

                                    rs1428054590 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      1:11658276 (GRCh38)
                                      1:11718333 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:11658275:A:T
                                      Gene:
                                      FBXO44 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.11658276A>T, NC_000001.10:g.11718333A>T, NG_081942.1:g.400A>T, NM_033182.7:c.275A>T, NM_033182.6:c.275A>T, NM_033182.5:c.275A>T, XM_005263536.5:c.275A>T, XM_005263536.4:c.275A>T, XM_005263536.3:c.275A>T, XM_005263536.2:c.275A>T, XM_005263536.1:c.275A>T, XM_006711045.4:c.275A>T, XM_006711045.3:c.275A>T, XM_006711045.2:c.275A>T, XM_006711045.1:c.275A>T, XM_006711043.4:c.275A>T, XM_006711043.3:c.275A>T, XM_006711043.2:c.275A>T, XM_006711043.1:c.275A>T, NM_183412.3:c.275A>T, NM_183412.2:c.275A>T, NM_183413.3:c.275A>T, NM_183413.2:c.275A>T, XM_017002842.3:c.275A>T, XM_017002842.2:c.275A>T, XM_017002842.1:c.275A>T, XM_017002844.3:c.275A>T, XM_017002844.2:c.275A>T, XM_017002844.1:c.275A>T, XM_011542435.2:c.275A>T, XM_011542435.1:c.275A>T, NM_001014765.2:c.275A>T, NM_001014765.1:c.275A>T, NM_001304791.2:c.275A>T, NM_001304791.1:c.275A>T, XM_005263537.2:c.275A>T, XM_005263537.1:c.275A>T, NM_001330355.2:c.275A>T, NM_001330355.1:c.275A>T, NM_001304790.2:c.275A>T, NM_001304790.1:c.275A>T, NR_130909.2:n.247A>T, NR_130909.1:n.267A>T, XM_017002843.2:c.275A>T, XM_017002843.1:c.275A>T, XM_047434652.1:c.275A>T, XM_047434635.1:c.275A>T, XM_047434631.1:c.275A>T, XM_047434660.1:c.275A>T, XM_047434647.1:c.275A>T, XM_047434637.1:c.275A>T, XM_047434659.1:c.275A>T, XR_007064917.1:n.753A>T, XR_007064914.1:n.381A>T, XR_007064919.1:n.480A>T, XR_007064913.1:n.381A>T, XR_007064918.1:n.381A>T, NP_149438.2:p.Glu92Val, XP_005263593.1:p.Glu92Val, XP_006711108.1:p.Glu92Val, XP_006711106.1:p.Glu92Val, NP_904319.1:p.Glu92Val, NP_904320.1:p.Glu92Val, XP_016858331.1:p.Glu92Val, XP_016858333.1:p.Glu92Val, XP_011540737.1:p.Glu92Val, NP_001014765.1:p.Glu92Val, NP_001291720.1:p.Glu92Val, XP_005263594.1:p.Glu92Val, NP_001317284.1:p.Glu92Val, NP_001291719.1:p.Glu92Val, XP_016858332.1:p.Glu92Val, XP_047290608.1:p.Glu92Val, XP_047290591.1:p.Glu92Val, XP_047290587.1:p.Glu92Val, XP_047290616.1:p.Glu92Val, XP_047290603.1:p.Glu92Val, XP_047290593.1:p.Glu92Val, XP_047290615.1:p.Glu92Val

                                      19.

                                      rs1427598746 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:11661141 (GRCh38)
                                        1:11721198 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:11661140:A:G
                                        Gene:
                                        FBXO44 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.11661141A>G, NC_000001.10:g.11721198A>G, NM_033182.7:c.636A>G, NM_033182.6:c.636A>G, NM_033182.5:c.636A>G, XM_005263536.5:c.607A>G, XM_005263536.4:c.607A>G, XM_005263536.3:c.607A>G, XM_005263536.2:c.607A>G, XM_005263536.1:c.607A>G, XM_006711045.4:c.636A>G, XM_006711045.3:c.636A>G, XM_006711045.2:c.636A>G, XM_006711045.1:c.636A>G, XM_006711043.4:c.607A>G, XM_006711043.3:c.607A>G, XM_006711043.2:c.607A>G, XM_006711043.1:c.607A>G, NM_183412.3:c.511A>G, NM_183412.2:c.511A>G, NM_183413.3:c.511A>G, NM_183413.2:c.511A>G, XM_017002842.3:c.607A>G, XM_017002842.2:c.607A>G, XM_017002842.1:c.607A>G, XM_017002844.3:c.511A>G, XM_017002844.2:c.511A>G, XM_017002844.1:c.511A>G, XM_011542435.2:c.607A>G, XM_011542435.1:c.607A>G, NM_001014765.2:c.636A>G, NM_001014765.1:c.636A>G, NM_001304791.2:c.636A>G, NM_001304791.1:c.636A>G, XM_005263537.2:c.607A>G, XM_005263537.1:c.607A>G, NM_001330355.2:c.607A>G, NM_001330355.1:c.607A>G, NM_001304790.2:c.511A>G, NM_001304790.1:c.511A>G, NR_130909.2:n.483A>G, NR_130909.1:n.503A>G, XM_017002843.2:c.636A>G, XM_017002843.1:c.636A>G, XM_047434652.1:c.636A>G, XM_047434635.1:c.636A>G, XM_047434631.1:c.607A>G, XM_047434660.1:c.511A>G, XM_047434647.1:c.636A>G, XM_047434637.1:c.636A>G, XM_047434659.1:c.511A>G, XR_007064917.1:n.1114A>G, XR_007064914.1:n.742A>G, XR_007064919.1:n.716A>G, XR_007064913.1:n.713A>G, XR_007064918.1:n.617A>G, XP_005263593.1:p.Ile203Val, XP_006711106.1:p.Ile203Val, NP_904319.1:p.Ile171Val, NP_904320.1:p.Ile171Val, XP_016858331.1:p.Ile203Val, XP_016858333.1:p.Ile171Val, XP_011540737.1:p.Ile203Val, XP_005263594.1:p.Ile203Val, NP_001317284.1:p.Ile203Val, NP_001291719.1:p.Ile171Val, XP_047290587.1:p.Ile203Val, XP_047290616.1:p.Ile171Val, XP_047290615.1:p.Ile171Val

                                        20.

                                        rs1415608370 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:11658769 (GRCh38)
                                          1:11718826 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:11658768:C:T
                                          Gene:
                                          FBXO44 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.11658769C>T, NC_000001.10:g.11718826C>T, NG_081942.1:g.893C>T, NM_033182.7:c.522C>T, NM_033182.6:c.522C>T, NM_033182.5:c.522C>T, XM_005263536.5:c.493C>T, XM_005263536.4:c.493C>T, XM_005263536.3:c.493C>T, XM_005263536.2:c.493C>T, XM_005263536.1:c.493C>T, XM_006711045.4:c.522C>T, XM_006711045.3:c.522C>T, XM_006711045.2:c.522C>T, XM_006711045.1:c.522C>T, XM_006711043.4:c.493C>T, XM_006711043.3:c.493C>T, XM_006711043.2:c.493C>T, XM_006711043.1:c.493C>T, NM_183412.3:c.397C>T, NM_183412.2:c.397C>T, NM_183413.3:c.397C>T, NM_183413.2:c.397C>T, XM_017002842.3:c.493C>T, XM_017002842.2:c.493C>T, XM_017002842.1:c.493C>T, XM_017002844.3:c.397C>T, XM_017002844.2:c.397C>T, XM_017002844.1:c.397C>T, XM_011542435.2:c.493C>T, XM_011542435.1:c.493C>T, NM_001014765.2:c.522C>T, NM_001014765.1:c.522C>T, NM_001304791.2:c.522C>T, NM_001304791.1:c.522C>T, XM_005263537.2:c.493C>T, XM_005263537.1:c.493C>T, NM_001330355.2:c.493C>T, NM_001330355.1:c.493C>T, NM_001304790.2:c.397C>T, NM_001304790.1:c.397C>T, NR_130909.2:n.369C>T, NR_130909.1:n.389C>T, XM_017002843.2:c.522C>T, XM_017002843.1:c.522C>T, XM_047434652.1:c.522C>T, XM_047434635.1:c.522C>T, XM_047434631.1:c.493C>T, XM_047434660.1:c.397C>T, XM_047434647.1:c.522C>T, XM_047434637.1:c.522C>T, XM_047434659.1:c.397C>T, XR_007064917.1:n.1000C>T, XR_007064914.1:n.628C>T, XR_007064919.1:n.602C>T, XR_007064913.1:n.599C>T, XR_007064918.1:n.503C>T, XP_005263593.1:p.Pro165Ser, XP_006711106.1:p.Pro165Ser, NP_904319.1:p.Pro133Ser, NP_904320.1:p.Pro133Ser, XP_016858331.1:p.Pro165Ser, XP_016858333.1:p.Pro133Ser, XP_011540737.1:p.Pro165Ser, XP_005263594.1:p.Pro165Ser, NP_001317284.1:p.Pro165Ser, NP_001291719.1:p.Pro133Ser, XP_047290587.1:p.Pro165Ser, XP_047290616.1:p.Pro133Ser, XP_047290615.1:p.Pro133Ser

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