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Items: 1 to 20 of 780

1.

rs1490962390 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    13:79371156 (GRCh38)
    13:79945291 (GRCh37)
    Canonical SPDI:
    NC_000013.11:79371155:A:G
    Gene:
    RBM26 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000132/2 (ALFA)
    G=0.000014/2 (GnomAD)
    G=0.000223/1 (Estonian)
    HGVS:
    NC_000013.11:g.79371156A>G, NC_000013.10:g.79945291A>G, NM_022118.5:c.423T>C, NM_022118.4:c.423T>C, NM_022118.3:c.423T>C, XM_011535186.4:c.423T>C, XM_011535186.3:c.423T>C, XM_011535186.2:c.423T>C, XM_011535186.1:c.423T>C, XM_005266497.3:c.423T>C, XM_005266497.2:c.423T>C, XM_005266497.1:c.423T>C, XM_006719857.3:c.423T>C, XM_006719857.2:c.423T>C, XM_006719857.1:c.423T>C, XM_017020697.3:c.423T>C, XM_017020697.2:c.423T>C, XM_017020697.1:c.423T>C, XM_011535179.3:c.423T>C, XM_011535179.2:c.423T>C, XM_011535179.1:c.423T>C, XM_011535181.3:c.423T>C, XM_011535181.2:c.423T>C, XM_011535181.1:c.423T>C, XM_011535182.3:c.423T>C, XM_011535182.2:c.423T>C, XM_011535182.1:c.423T>C, XM_017020689.3:c.423T>C, XM_017020689.2:c.423T>C, XM_017020689.1:c.423T>C, XM_011535184.3:c.423T>C, XM_011535184.2:c.423T>C, XM_011535184.1:c.423T>C, XM_017020696.3:c.423T>C, XM_017020696.2:c.423T>C, XM_017020696.1:c.423T>C, XM_017020695.3:c.423T>C, XM_017020695.2:c.423T>C, XM_017020695.1:c.423T>C, XM_011535195.2:c.-442T>C, XM_011535195.1:c.-442T>C, NM_001286631.2:c.423T>C, NM_001286631.1:c.423T>C, NM_001366735.2:c.423T>C, NM_001366735.1:c.423T>C, NM_001286632.2:c.423T>C, NM_001286632.1:c.423T>C, XM_047430510.1:c.423T>C, XM_047430511.1:c.423T>C, XM_047430514.1:c.423T>C, XM_047430516.1:c.423T>C, XM_047430519.1:c.423T>C, XM_047430522.1:c.423T>C, XM_047430521.1:c.423T>C, XM_047430523.1:c.423T>C, XM_047430524.1:c.423T>C, XM_047430525.1:c.423T>C, XM_047430526.1:c.423T>C, XM_047430527.1:c.423T>C, XM_047430529.1:c.423T>C, XM_047430528.1:c.423T>C, XM_047430530.1:c.423T>C, XM_047430531.1:c.423T>C, XM_047430532.1:c.423T>C, XM_047430533.1:c.423T>C, XM_047430534.1:c.423T>C, XM_047430535.1:c.423T>C, XM_047430536.1:c.423T>C, XM_047430501.1:c.423T>C, XM_047430502.1:c.423T>C, XM_047430503.1:c.423T>C, XM_047430504.1:c.423T>C, XM_047430506.1:c.423T>C, XM_047430507.1:c.423T>C, XM_047430509.1:c.423T>C, XM_047430512.1:c.423T>C, XM_047430513.1:c.423T>C, XM_047430515.1:c.423T>C, XM_047430517.1:c.423T>C, XM_047430518.1:c.423T>C, XM_047430508.1:c.423T>C

    2.

    rs1490128814 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      13:79344251 (GRCh38)
      13:79918386 (GRCh37)
      Canonical SPDI:
      NC_000013.11:79344250:C:T
      Gene:
      RBM26 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_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_000013.11:g.79344251C>T, NC_000013.10:g.79918386C>T, NM_022118.5:c.2175G>A, NM_022118.4:c.2175G>A, NM_022118.3:c.2175G>A, XM_011535186.4:c.2256G>A, XM_011535186.3:c.2256G>A, XM_011535186.2:c.2256G>A, XM_011535186.1:c.2256G>A, XM_005266497.3:c.2301G>A, XM_005266497.2:c.2301G>A, XM_005266497.1:c.2301G>A, XM_006719857.3:c.2301G>A, XM_006719857.2:c.2301G>A, XM_006719857.1:c.2301G>A, XM_017020697.3:c.2286G>A, XM_017020697.2:c.2286G>A, XM_017020697.1:c.2286G>A, XM_011535179.3:c.2301G>A, XM_011535179.2:c.2301G>A, XM_011535179.1:c.2301G>A, XM_011535181.3:c.2292G>A, XM_011535181.2:c.2292G>A, XM_011535181.1:c.2292G>A, XM_011535182.3:c.2286G>A, XM_011535182.2:c.2286G>A, XM_011535182.1:c.2286G>A, XM_017020689.3:c.2277G>A, XM_017020689.2:c.2277G>A, XM_017020689.1:c.2277G>A, XM_011535184.3:c.2271G>A, XM_011535184.2:c.2271G>A, XM_011535184.1:c.2271G>A, XM_017020696.3:c.2214G>A, XM_017020696.2:c.2214G>A, XM_017020696.1:c.2214G>A, XM_017020695.3:c.2205G>A, XM_017020695.2:c.2205G>A, XM_017020695.1:c.2205G>A, XM_011535195.2:c.1437G>A, XM_011535195.1:c.1437G>A, NM_001286631.2:c.2262G>A, NM_001286631.1:c.2262G>A, NM_001366735.2:c.2256G>A, NM_001366735.1:c.2256G>A, NM_001286632.2:c.2184G>A, NM_001286632.1:c.2184G>A, XM_047430510.1:c.2292G>A, XM_047430511.1:c.2286G>A, XM_047430514.1:c.2277G>A, XM_047430516.1:c.2271G>A, XM_047430519.1:c.2256G>A, XM_047430522.1:c.2256G>A, XM_047430521.1:c.2247G>A, XM_047430523.1:c.2229G>A, XM_047430524.1:c.2229G>A, XM_047430525.1:c.2220G>A, XM_047430526.1:c.2220G>A, XM_047430527.1:c.2214G>A, XM_047430529.1:c.2214G>A, XM_047430528.1:c.2205G>A, XM_047430530.1:c.2199G>A, XM_047430531.1:c.2199G>A, XM_047430532.1:c.2190G>A, XM_047430533.1:c.2184G>A, XM_047430534.1:c.2184G>A, XM_047430535.1:c.2175G>A, XM_047430536.1:c.2175G>A, XM_047430501.1:c.2301G>A, XM_047430502.1:c.2292G>A, XM_047430503.1:c.2286G>A, XM_047430504.1:c.2277G>A, XM_047430506.1:c.2271G>A, XM_047430507.1:c.2247G>A, XM_047430509.1:c.2229G>A, XM_047430512.1:c.2220G>A, XM_047430513.1:c.2214G>A, XM_047430515.1:c.2205G>A, XM_047430517.1:c.2199G>A, XM_047430518.1:c.2190G>A, XM_047430508.1:c.2247G>A

      3.

      rs1488860654 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        13:79366201 (GRCh38)
        13:79940336 (GRCh37)
        Canonical SPDI:
        NC_000013.11:79366200:A:G
        Gene:
        RBM26 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000013.11:g.79366201A>G, NC_000013.10:g.79940336A>G, XM_005266497.3:c.1160T>C, XM_005266497.2:c.1160T>C, XM_005266497.1:c.1160T>C, XM_006719857.3:c.1160T>C, XM_006719857.2:c.1160T>C, XM_006719857.1:c.1160T>C, XM_017020697.3:c.1160T>C, XM_017020697.2:c.1160T>C, XM_017020697.1:c.1160T>C, XM_011535179.3:c.1160T>C, XM_011535179.2:c.1160T>C, XM_011535179.1:c.1160T>C, XM_011535181.3:c.1160T>C, XM_011535181.2:c.1160T>C, XM_011535181.1:c.1160T>C, XM_011535182.3:c.1160T>C, XM_011535182.2:c.1160T>C, XM_011535182.1:c.1160T>C, XM_017020689.3:c.1160T>C, XM_017020689.2:c.1160T>C, XM_017020689.1:c.1160T>C, XM_017020696.3:c.1160T>C, XM_017020696.2:c.1160T>C, XM_017020696.1:c.1160T>C, XM_017020695.3:c.1160T>C, XM_017020695.2:c.1160T>C, XM_017020695.1:c.1160T>C, XM_011535195.2:c.296T>C, XM_011535195.1:c.296T>C, XM_047430510.1:c.1160T>C, XM_047430511.1:c.1160T>C, XM_047430514.1:c.1160T>C, XM_047430523.1:c.1160T>C, XM_047430524.1:c.1160T>C, XM_047430525.1:c.1160T>C, XM_047430526.1:c.1160T>C, XM_047430527.1:c.1160T>C, XM_047430529.1:c.1160T>C, XM_047430528.1:c.1160T>C, XM_047430501.1:c.1160T>C, XM_047430502.1:c.1160T>C, XM_047430503.1:c.1160T>C, XM_047430504.1:c.1160T>C, XM_047430509.1:c.1160T>C, XM_047430512.1:c.1160T>C, XM_047430513.1:c.1160T>C, XM_047430515.1:c.1160T>C, XP_005266554.1:p.Leu387Ser, XP_006719920.1:p.Leu387Ser, XP_016876186.1:p.Leu387Ser, XP_011533481.1:p.Leu387Ser, XP_011533483.1:p.Leu387Ser, XP_011533484.1:p.Leu387Ser, XP_016876178.1:p.Leu387Ser, XP_016876185.1:p.Leu387Ser, XP_016876184.1:p.Leu387Ser, XP_011533497.1:p.Leu99Ser, XP_047286466.1:p.Leu387Ser, XP_047286467.1:p.Leu387Ser, XP_047286470.1:p.Leu387Ser, XP_047286479.1:p.Leu387Ser, XP_047286480.1:p.Leu387Ser, XP_047286481.1:p.Leu387Ser, XP_047286482.1:p.Leu387Ser, XP_047286483.1:p.Leu387Ser, XP_047286485.1:p.Leu387Ser, XP_047286484.1:p.Leu387Ser, XP_047286457.1:p.Leu387Ser, XP_047286458.1:p.Leu387Ser, XP_047286459.1:p.Leu387Ser, XP_047286460.1:p.Leu387Ser, XP_047286465.1:p.Leu387Ser, XP_047286468.1:p.Leu387Ser, XP_047286469.1:p.Leu387Ser, XP_047286471.1:p.Leu387Ser

        4.

        rs1485793823 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          13:79371897 (GRCh38)
          13:79946032 (GRCh37)
          Canonical SPDI:
          NC_000013.11:79371896:A:C
          Gene:
          RBM26 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000028/1 (ALFA)
          C=0.00004/10 (GnomAD_exomes)
          C=0.000079/21 (TOPMED)
          C=0.000114/16 (GnomAD)
          HGVS:
          NC_000013.11:g.79371897A>C, NC_000013.10:g.79946032A>C, NM_022118.5:c.361T>G, NM_022118.4:c.361T>G, NM_022118.3:c.361T>G, XM_011535186.4:c.361T>G, XM_011535186.3:c.361T>G, XM_011535186.2:c.361T>G, XM_011535186.1:c.361T>G, XM_005266497.3:c.361T>G, XM_005266497.2:c.361T>G, XM_005266497.1:c.361T>G, XM_006719857.3:c.361T>G, XM_006719857.2:c.361T>G, XM_006719857.1:c.361T>G, XM_017020697.3:c.361T>G, XM_017020697.2:c.361T>G, XM_017020697.1:c.361T>G, XM_011535179.3:c.361T>G, XM_011535179.2:c.361T>G, XM_011535179.1:c.361T>G, XM_011535181.3:c.361T>G, XM_011535181.2:c.361T>G, XM_011535181.1:c.361T>G, XM_011535182.3:c.361T>G, XM_011535182.2:c.361T>G, XM_011535182.1:c.361T>G, XM_017020689.3:c.361T>G, XM_017020689.2:c.361T>G, XM_017020689.1:c.361T>G, XM_011535184.3:c.361T>G, XM_011535184.2:c.361T>G, XM_011535184.1:c.361T>G, XM_017020696.3:c.361T>G, XM_017020696.2:c.361T>G, XM_017020696.1:c.361T>G, XM_017020695.3:c.361T>G, XM_017020695.2:c.361T>G, XM_017020695.1:c.361T>G, XM_011535195.2:c.-504T>G, XM_011535195.1:c.-504T>G, NM_001286631.2:c.361T>G, NM_001286631.1:c.361T>G, NM_001366735.2:c.361T>G, NM_001366735.1:c.361T>G, NM_001286632.2:c.361T>G, NM_001286632.1:c.361T>G, XM_047430510.1:c.361T>G, XM_047430511.1:c.361T>G, XM_047430514.1:c.361T>G, XM_047430516.1:c.361T>G, XM_047430519.1:c.361T>G, XM_047430522.1:c.361T>G, XM_047430521.1:c.361T>G, XM_047430523.1:c.361T>G, XM_047430524.1:c.361T>G, XM_047430525.1:c.361T>G, XM_047430526.1:c.361T>G, XM_047430527.1:c.361T>G, XM_047430529.1:c.361T>G, XM_047430528.1:c.361T>G, XM_047430530.1:c.361T>G, XM_047430531.1:c.361T>G, XM_047430532.1:c.361T>G, XM_047430533.1:c.361T>G, XM_047430534.1:c.361T>G, XM_047430535.1:c.361T>G, XM_047430536.1:c.361T>G, XM_047430501.1:c.361T>G, XM_047430502.1:c.361T>G, XM_047430503.1:c.361T>G, XM_047430504.1:c.361T>G, XM_047430506.1:c.361T>G, XM_047430507.1:c.361T>G, XM_047430509.1:c.361T>G, XM_047430512.1:c.361T>G, XM_047430513.1:c.361T>G, XM_047430515.1:c.361T>G, XM_047430517.1:c.361T>G, XM_047430518.1:c.361T>G, XM_047430508.1:c.361T>G, NP_071401.3:p.Ser121Ala, XP_011533488.1:p.Ser121Ala, XP_005266554.1:p.Ser121Ala, XP_006719920.1:p.Ser121Ala, XP_016876186.1:p.Ser121Ala, XP_011533481.1:p.Ser121Ala, XP_011533483.1:p.Ser121Ala, XP_011533484.1:p.Ser121Ala, XP_016876178.1:p.Ser121Ala, XP_011533486.1:p.Ser121Ala, XP_016876185.1:p.Ser121Ala, XP_016876184.1:p.Ser121Ala, NP_001273560.1:p.Ser121Ala, NP_001353664.1:p.Ser121Ala, NP_001273561.1:p.Ser121Ala, XP_047286466.1:p.Ser121Ala, XP_047286467.1:p.Ser121Ala, XP_047286470.1:p.Ser121Ala, XP_047286472.1:p.Ser121Ala, XP_047286475.1:p.Ser121Ala, XP_047286478.1:p.Ser121Ala, XP_047286477.1:p.Ser121Ala, XP_047286479.1:p.Ser121Ala, XP_047286480.1:p.Ser121Ala, XP_047286481.1:p.Ser121Ala, XP_047286482.1:p.Ser121Ala, XP_047286483.1:p.Ser121Ala, XP_047286485.1:p.Ser121Ala, XP_047286484.1:p.Ser121Ala, XP_047286486.1:p.Ser121Ala, XP_047286487.1:p.Ser121Ala, XP_047286488.1:p.Ser121Ala, XP_047286489.1:p.Ser121Ala, XP_047286490.1:p.Ser121Ala, XP_047286491.1:p.Ser121Ala, XP_047286492.1:p.Ser121Ala, XP_047286457.1:p.Ser121Ala, XP_047286458.1:p.Ser121Ala, XP_047286459.1:p.Ser121Ala, XP_047286460.1:p.Ser121Ala, XP_047286462.1:p.Ser121Ala, XP_047286463.1:p.Ser121Ala, XP_047286465.1:p.Ser121Ala, XP_047286468.1:p.Ser121Ala, XP_047286469.1:p.Ser121Ala, XP_047286471.1:p.Ser121Ala, XP_047286473.1:p.Ser121Ala, XP_047286474.1:p.Ser121Ala, XP_047286464.1:p.Ser121Ala

          5.

          rs1485435937 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            13:79366643 (GRCh38)
            13:79940778 (GRCh37)
            Canonical SPDI:
            NC_000013.11:79366642:T:C
            Gene:
            RBM26 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000013.11:g.79366643T>C, NC_000013.10:g.79940778T>C, NM_022118.5:c.1125A>G, NM_022118.4:c.1125A>G, NM_022118.3:c.1125A>G, XM_011535186.4:c.1125A>G, XM_011535186.3:c.1125A>G, XM_011535186.2:c.1125A>G, XM_011535186.1:c.1125A>G, XM_005266497.3:c.1125A>G, XM_005266497.2:c.1125A>G, XM_005266497.1:c.1125A>G, XM_006719857.3:c.1125A>G, XM_006719857.2:c.1125A>G, XM_006719857.1:c.1125A>G, XM_017020697.3:c.1125A>G, XM_017020697.2:c.1125A>G, XM_017020697.1:c.1125A>G, XM_011535179.3:c.1125A>G, XM_011535179.2:c.1125A>G, XM_011535179.1:c.1125A>G, XM_011535181.3:c.1125A>G, XM_011535181.2:c.1125A>G, XM_011535181.1:c.1125A>G, XM_011535182.3:c.1125A>G, XM_011535182.2:c.1125A>G, XM_011535182.1:c.1125A>G, XM_017020689.3:c.1125A>G, XM_017020689.2:c.1125A>G, XM_017020689.1:c.1125A>G, XM_011535184.3:c.1125A>G, XM_011535184.2:c.1125A>G, XM_011535184.1:c.1125A>G, XM_017020696.3:c.1125A>G, XM_017020696.2:c.1125A>G, XM_017020696.1:c.1125A>G, XM_017020695.3:c.1125A>G, XM_017020695.2:c.1125A>G, XM_017020695.1:c.1125A>G, XM_011535195.2:c.261A>G, XM_011535195.1:c.261A>G, NM_001286631.2:c.1125A>G, NM_001286631.1:c.1125A>G, NM_001366735.2:c.1125A>G, NM_001366735.1:c.1125A>G, NM_001286632.2:c.1125A>G, NM_001286632.1:c.1125A>G, XM_047430510.1:c.1125A>G, XM_047430511.1:c.1125A>G, XM_047430514.1:c.1125A>G, XM_047430516.1:c.1125A>G, XM_047430519.1:c.1125A>G, XM_047430522.1:c.1125A>G, XM_047430521.1:c.1125A>G, XM_047430523.1:c.1125A>G, XM_047430524.1:c.1125A>G, XM_047430525.1:c.1125A>G, XM_047430526.1:c.1125A>G, XM_047430527.1:c.1125A>G, XM_047430529.1:c.1125A>G, XM_047430528.1:c.1125A>G, XM_047430530.1:c.1125A>G, XM_047430531.1:c.1125A>G, XM_047430532.1:c.1125A>G, XM_047430533.1:c.1125A>G, XM_047430534.1:c.1125A>G, XM_047430535.1:c.1125A>G, XM_047430536.1:c.1125A>G, XM_047430501.1:c.1125A>G, XM_047430502.1:c.1125A>G, XM_047430503.1:c.1125A>G, XM_047430504.1:c.1125A>G, XM_047430506.1:c.1125A>G, XM_047430507.1:c.1125A>G, XM_047430509.1:c.1125A>G, XM_047430512.1:c.1125A>G, XM_047430513.1:c.1125A>G, XM_047430515.1:c.1125A>G, XM_047430517.1:c.1125A>G, XM_047430518.1:c.1125A>G, XM_047430508.1:c.1125A>G

            6.

            rs1484577481 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              13:79355347 (GRCh38)
              13:79929482 (GRCh37)
              Canonical SPDI:
              NC_000013.11:79355346:T:C
              Gene:
              RBM26 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000028/1 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000013.11:g.79355347T>C, NC_000013.10:g.79929482T>C, NM_022118.5:c.1727A>G, NM_022118.4:c.1727A>G, NM_022118.3:c.1727A>G, XM_011535186.4:c.1727A>G, XM_011535186.3:c.1727A>G, XM_011535186.2:c.1727A>G, XM_011535186.1:c.1727A>G, XM_005266497.3:c.1772A>G, XM_005266497.2:c.1772A>G, XM_005266497.1:c.1772A>G, XM_006719857.3:c.1772A>G, XM_006719857.2:c.1772A>G, XM_006719857.1:c.1772A>G, XM_017020697.3:c.1757A>G, XM_017020697.2:c.1757A>G, XM_017020697.1:c.1757A>G, XM_011535179.3:c.1772A>G, XM_011535179.2:c.1772A>G, XM_011535179.1:c.1772A>G, XM_011535181.3:c.1772A>G, XM_011535181.2:c.1772A>G, XM_011535181.1:c.1772A>G, XM_011535182.3:c.1757A>G, XM_011535182.2:c.1757A>G, XM_011535182.1:c.1757A>G, XM_017020689.3:c.1757A>G, XM_017020689.2:c.1757A>G, XM_017020689.1:c.1757A>G, XM_011535184.3:c.1742A>G, XM_011535184.2:c.1742A>G, XM_011535184.1:c.1742A>G, XM_017020696.3:c.1757A>G, XM_017020696.2:c.1757A>G, XM_017020696.1:c.1757A>G, XM_017020695.3:c.1757A>G, XM_017020695.2:c.1757A>G, XM_017020695.1:c.1757A>G, XM_011535195.2:c.908A>G, XM_011535195.1:c.908A>G, NM_001286631.2:c.1742A>G, NM_001286631.1:c.1742A>G, NM_001366735.2:c.1727A>G, NM_001366735.1:c.1727A>G, NM_001286632.2:c.1727A>G, NM_001286632.1:c.1727A>G, XM_047430510.1:c.1772A>G, XM_047430511.1:c.1757A>G, XM_047430514.1:c.1757A>G, XM_047430516.1:c.1742A>G, XM_047430519.1:c.1727A>G, XM_047430522.1:c.1727A>G, XM_047430521.1:c.1727A>G, XM_047430523.1:c.1772A>G, XM_047430524.1:c.1772A>G, XM_047430525.1:c.1772A>G, XM_047430526.1:c.1772A>G, XM_047430527.1:c.1757A>G, XM_047430529.1:c.1757A>G, XM_047430528.1:c.1757A>G, XM_047430530.1:c.1742A>G, XM_047430531.1:c.1742A>G, XM_047430532.1:c.1742A>G, XM_047430533.1:c.1727A>G, XM_047430534.1:c.1727A>G, XM_047430535.1:c.1727A>G, XM_047430536.1:c.1727A>G, XM_047430501.1:c.1772A>G, XM_047430502.1:c.1772A>G, XM_047430503.1:c.1757A>G, XM_047430504.1:c.1757A>G, XM_047430506.1:c.1742A>G, XM_047430507.1:c.1727A>G, XM_047430509.1:c.1772A>G, XM_047430512.1:c.1772A>G, XM_047430513.1:c.1757A>G, XM_047430515.1:c.1757A>G, XM_047430517.1:c.1742A>G, XM_047430518.1:c.1742A>G, XM_047430508.1:c.1727A>G, NP_071401.3:p.Gln576Arg, XP_011533488.1:p.Gln576Arg, XP_005266554.1:p.Gln591Arg, XP_006719920.1:p.Gln591Arg, XP_016876186.1:p.Gln586Arg, XP_011533481.1:p.Gln591Arg, XP_011533483.1:p.Gln591Arg, XP_011533484.1:p.Gln586Arg, XP_016876178.1:p.Gln586Arg, XP_011533486.1:p.Gln581Arg, XP_016876185.1:p.Gln586Arg, XP_016876184.1:p.Gln586Arg, XP_011533497.1:p.Gln303Arg, NP_001273560.1:p.Gln581Arg, NP_001353664.1:p.Gln576Arg, NP_001273561.1:p.Gln576Arg, XP_047286466.1:p.Gln591Arg, XP_047286467.1:p.Gln586Arg, XP_047286470.1:p.Gln586Arg, XP_047286472.1:p.Gln581Arg, XP_047286475.1:p.Gln576Arg, XP_047286478.1:p.Gln576Arg, XP_047286477.1:p.Gln576Arg, XP_047286479.1:p.Gln591Arg, XP_047286480.1:p.Gln591Arg, XP_047286481.1:p.Gln591Arg, XP_047286482.1:p.Gln591Arg, XP_047286483.1:p.Gln586Arg, XP_047286485.1:p.Gln586Arg, XP_047286484.1:p.Gln586Arg, XP_047286486.1:p.Gln581Arg, XP_047286487.1:p.Gln581Arg, XP_047286488.1:p.Gln581Arg, XP_047286489.1:p.Gln576Arg, XP_047286490.1:p.Gln576Arg, XP_047286491.1:p.Gln576Arg, XP_047286492.1:p.Gln576Arg, XP_047286457.1:p.Gln591Arg, XP_047286458.1:p.Gln591Arg, XP_047286459.1:p.Gln586Arg, XP_047286460.1:p.Gln586Arg, XP_047286462.1:p.Gln581Arg, XP_047286463.1:p.Gln576Arg, XP_047286465.1:p.Gln591Arg, XP_047286468.1:p.Gln591Arg, XP_047286469.1:p.Gln586Arg, XP_047286471.1:p.Gln586Arg, XP_047286473.1:p.Gln581Arg, XP_047286474.1:p.Gln581Arg, XP_047286464.1:p.Gln576Arg

              7.

              rs1483421841 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                13:79366728 (GRCh38)
                13:79940863 (GRCh37)
                Canonical SPDI:
                NC_000013.11:79366727:G:A
                Gene:
                RBM26 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000013.11:g.79366728G>A, NC_000013.10:g.79940863G>A, NM_022118.5:c.1040C>T, NM_022118.4:c.1040C>T, NM_022118.3:c.1040C>T, XM_011535186.4:c.1040C>T, XM_011535186.3:c.1040C>T, XM_011535186.2:c.1040C>T, XM_011535186.1:c.1040C>T, XM_005266497.3:c.1040C>T, XM_005266497.2:c.1040C>T, XM_005266497.1:c.1040C>T, XM_006719857.3:c.1040C>T, XM_006719857.2:c.1040C>T, XM_006719857.1:c.1040C>T, XM_017020697.3:c.1040C>T, XM_017020697.2:c.1040C>T, XM_017020697.1:c.1040C>T, XM_011535179.3:c.1040C>T, XM_011535179.2:c.1040C>T, XM_011535179.1:c.1040C>T, XM_011535181.3:c.1040C>T, XM_011535181.2:c.1040C>T, XM_011535181.1:c.1040C>T, XM_011535182.3:c.1040C>T, XM_011535182.2:c.1040C>T, XM_011535182.1:c.1040C>T, XM_017020689.3:c.1040C>T, XM_017020689.2:c.1040C>T, XM_017020689.1:c.1040C>T, XM_011535184.3:c.1040C>T, XM_011535184.2:c.1040C>T, XM_011535184.1:c.1040C>T, XM_017020696.3:c.1040C>T, XM_017020696.2:c.1040C>T, XM_017020696.1:c.1040C>T, XM_017020695.3:c.1040C>T, XM_017020695.2:c.1040C>T, XM_017020695.1:c.1040C>T, XM_011535195.2:c.176C>T, XM_011535195.1:c.176C>T, NM_001286631.2:c.1040C>T, NM_001286631.1:c.1040C>T, NM_001366735.2:c.1040C>T, NM_001366735.1:c.1040C>T, NM_001286632.2:c.1040C>T, NM_001286632.1:c.1040C>T, XM_047430510.1:c.1040C>T, XM_047430511.1:c.1040C>T, XM_047430514.1:c.1040C>T, XM_047430516.1:c.1040C>T, XM_047430519.1:c.1040C>T, XM_047430522.1:c.1040C>T, XM_047430521.1:c.1040C>T, XM_047430523.1:c.1040C>T, XM_047430524.1:c.1040C>T, XM_047430525.1:c.1040C>T, XM_047430526.1:c.1040C>T, XM_047430527.1:c.1040C>T, XM_047430529.1:c.1040C>T, XM_047430528.1:c.1040C>T, XM_047430530.1:c.1040C>T, XM_047430531.1:c.1040C>T, XM_047430532.1:c.1040C>T, XM_047430533.1:c.1040C>T, XM_047430534.1:c.1040C>T, XM_047430535.1:c.1040C>T, XM_047430536.1:c.1040C>T, XM_047430501.1:c.1040C>T, XM_047430502.1:c.1040C>T, XM_047430503.1:c.1040C>T, XM_047430504.1:c.1040C>T, XM_047430506.1:c.1040C>T, XM_047430507.1:c.1040C>T, XM_047430509.1:c.1040C>T, XM_047430512.1:c.1040C>T, XM_047430513.1:c.1040C>T, XM_047430515.1:c.1040C>T, XM_047430517.1:c.1040C>T, XM_047430518.1:c.1040C>T, XM_047430508.1:c.1040C>T, NP_071401.3:p.Pro347Leu, XP_011533488.1:p.Pro347Leu, XP_005266554.1:p.Pro347Leu, XP_006719920.1:p.Pro347Leu, XP_016876186.1:p.Pro347Leu, XP_011533481.1:p.Pro347Leu, XP_011533483.1:p.Pro347Leu, XP_011533484.1:p.Pro347Leu, XP_016876178.1:p.Pro347Leu, XP_011533486.1:p.Pro347Leu, XP_016876185.1:p.Pro347Leu, XP_016876184.1:p.Pro347Leu, XP_011533497.1:p.Pro59Leu, NP_001273560.1:p.Pro347Leu, NP_001353664.1:p.Pro347Leu, NP_001273561.1:p.Pro347Leu, XP_047286466.1:p.Pro347Leu, XP_047286467.1:p.Pro347Leu, XP_047286470.1:p.Pro347Leu, XP_047286472.1:p.Pro347Leu, XP_047286475.1:p.Pro347Leu, XP_047286478.1:p.Pro347Leu, XP_047286477.1:p.Pro347Leu, XP_047286479.1:p.Pro347Leu, XP_047286480.1:p.Pro347Leu, XP_047286481.1:p.Pro347Leu, XP_047286482.1:p.Pro347Leu, XP_047286483.1:p.Pro347Leu, XP_047286485.1:p.Pro347Leu, XP_047286484.1:p.Pro347Leu, XP_047286486.1:p.Pro347Leu, XP_047286487.1:p.Pro347Leu, XP_047286488.1:p.Pro347Leu, XP_047286489.1:p.Pro347Leu, XP_047286490.1:p.Pro347Leu, XP_047286491.1:p.Pro347Leu, XP_047286492.1:p.Pro347Leu, XP_047286457.1:p.Pro347Leu, XP_047286458.1:p.Pro347Leu, XP_047286459.1:p.Pro347Leu, XP_047286460.1:p.Pro347Leu, XP_047286462.1:p.Pro347Leu, XP_047286463.1:p.Pro347Leu, XP_047286465.1:p.Pro347Leu, XP_047286468.1:p.Pro347Leu, XP_047286469.1:p.Pro347Leu, XP_047286471.1:p.Pro347Leu, XP_047286473.1:p.Pro347Leu, XP_047286474.1:p.Pro347Leu, XP_047286464.1:p.Pro347Leu

                8.

                rs1482599227 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  13:79344685 (GRCh38)
                  13:79918820 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:79344684:G:T
                  Gene:
                  RBM26 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.001119/5 (ALFA)
                  T=0.000066/16 (GnomAD_exomes)
                  T=0.001116/5 (Estonian)
                  HGVS:
                  NC_000013.11:g.79344685G>T, NC_000013.10:g.79918820G>T, NM_022118.5:c.2087C>A, NM_022118.4:c.2087C>A, NM_022118.3:c.2087C>A, XM_011535186.4:c.2168C>A, XM_011535186.3:c.2168C>A, XM_011535186.2:c.2168C>A, XM_011535186.1:c.2168C>A, XM_005266497.3:c.2213C>A, XM_005266497.2:c.2213C>A, XM_005266497.1:c.2213C>A, XM_006719857.3:c.2213C>A, XM_006719857.2:c.2213C>A, XM_006719857.1:c.2213C>A, XM_017020697.3:c.2198C>A, XM_017020697.2:c.2198C>A, XM_017020697.1:c.2198C>A, XM_011535179.3:c.2213C>A, XM_011535179.2:c.2213C>A, XM_011535179.1:c.2213C>A, XM_011535181.3:c.2204C>A, XM_011535181.2:c.2204C>A, XM_011535181.1:c.2204C>A, XM_011535182.3:c.2198C>A, XM_011535182.2:c.2198C>A, XM_011535182.1:c.2198C>A, XM_017020689.3:c.2189C>A, XM_017020689.2:c.2189C>A, XM_017020689.1:c.2189C>A, XM_011535184.3:c.2183C>A, XM_011535184.2:c.2183C>A, XM_011535184.1:c.2183C>A, XM_017020696.3:c.2126C>A, XM_017020696.2:c.2126C>A, XM_017020696.1:c.2126C>A, XM_017020695.3:c.2117C>A, XM_017020695.2:c.2117C>A, XM_017020695.1:c.2117C>A, XM_011535195.2:c.1349C>A, XM_011535195.1:c.1349C>A, NM_001286631.2:c.2174C>A, NM_001286631.1:c.2174C>A, NM_001366735.2:c.2168C>A, NM_001366735.1:c.2168C>A, NM_001286632.2:c.2096C>A, NM_001286632.1:c.2096C>A, XM_047430510.1:c.2204C>A, XM_047430511.1:c.2198C>A, XM_047430514.1:c.2189C>A, XM_047430516.1:c.2183C>A, XM_047430519.1:c.2168C>A, XM_047430522.1:c.2168C>A, XM_047430521.1:c.2159C>A, XM_047430523.1:c.2141C>A, XM_047430524.1:c.2141C>A, XM_047430525.1:c.2132C>A, XM_047430526.1:c.2132C>A, XM_047430527.1:c.2126C>A, XM_047430529.1:c.2126C>A, XM_047430528.1:c.2117C>A, XM_047430530.1:c.2111C>A, XM_047430531.1:c.2111C>A, XM_047430532.1:c.2102C>A, XM_047430533.1:c.2096C>A, XM_047430534.1:c.2096C>A, XM_047430535.1:c.2087C>A, XM_047430536.1:c.2087C>A, XM_047430501.1:c.2213C>A, XM_047430502.1:c.2204C>A, XM_047430503.1:c.2198C>A, XM_047430504.1:c.2189C>A, XM_047430506.1:c.2183C>A, XM_047430507.1:c.2159C>A, XM_047430509.1:c.2141C>A, XM_047430512.1:c.2132C>A, XM_047430513.1:c.2126C>A, XM_047430515.1:c.2117C>A, XM_047430517.1:c.2111C>A, XM_047430518.1:c.2102C>A, XM_047430508.1:c.2159C>A, NP_071401.3:p.Ala696Glu, XP_011533488.1:p.Ala723Glu, XP_005266554.1:p.Ala738Glu, XP_006719920.1:p.Ala738Glu, XP_016876186.1:p.Ala733Glu, XP_011533481.1:p.Ala738Glu, XP_011533483.1:p.Ala735Glu, XP_011533484.1:p.Ala733Glu, XP_016876178.1:p.Ala730Glu, XP_011533486.1:p.Ala728Glu, XP_016876185.1:p.Ala709Glu, XP_016876184.1:p.Ala706Glu, XP_011533497.1:p.Ala450Glu, NP_001273560.1:p.Ala725Glu, NP_001353664.1:p.Ala723Glu, NP_001273561.1:p.Ala699Glu, XP_047286466.1:p.Ala735Glu, XP_047286467.1:p.Ala733Glu, XP_047286470.1:p.Ala730Glu, XP_047286472.1:p.Ala728Glu, XP_047286475.1:p.Ala723Glu, XP_047286478.1:p.Ala723Glu, XP_047286477.1:p.Ala720Glu, XP_047286479.1:p.Ala714Glu, XP_047286480.1:p.Ala714Glu, XP_047286481.1:p.Ala711Glu, XP_047286482.1:p.Ala711Glu, XP_047286483.1:p.Ala709Glu, XP_047286485.1:p.Ala709Glu, XP_047286484.1:p.Ala706Glu, XP_047286486.1:p.Ala704Glu, XP_047286487.1:p.Ala704Glu, XP_047286488.1:p.Ala701Glu, XP_047286489.1:p.Ala699Glu, XP_047286490.1:p.Ala699Glu, XP_047286491.1:p.Ala696Glu, XP_047286492.1:p.Ala696Glu, XP_047286457.1:p.Ala738Glu, XP_047286458.1:p.Ala735Glu, XP_047286459.1:p.Ala733Glu, XP_047286460.1:p.Ala730Glu, XP_047286462.1:p.Ala728Glu, XP_047286463.1:p.Ala720Glu, XP_047286465.1:p.Ala714Glu, XP_047286468.1:p.Ala711Glu, XP_047286469.1:p.Ala709Glu, XP_047286471.1:p.Ala706Glu, XP_047286473.1:p.Ala704Glu, XP_047286474.1:p.Ala701Glu, XP_047286464.1:p.Ala720Glu

                  9.

                  rs1482346053 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:79378827 (GRCh38)
                    13:79952962 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:79378826:G:A
                    Gene:
                    RBM26 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,5_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.79378827G>A, NC_000013.10:g.79952962G>A, NM_022118.5:c.152C>T, NM_022118.4:c.152C>T, NM_022118.3:c.152C>T, XM_011535186.4:c.152C>T, XM_011535186.3:c.152C>T, XM_011535186.2:c.152C>T, XM_011535186.1:c.152C>T, XM_005266497.3:c.152C>T, XM_005266497.2:c.152C>T, XM_005266497.1:c.152C>T, XM_006719857.3:c.152C>T, XM_006719857.2:c.152C>T, XM_006719857.1:c.152C>T, XM_017020697.3:c.152C>T, XM_017020697.2:c.152C>T, XM_017020697.1:c.152C>T, XM_011535179.3:c.152C>T, XM_011535179.2:c.152C>T, XM_011535179.1:c.152C>T, XM_011535181.3:c.152C>T, XM_011535181.2:c.152C>T, XM_011535181.1:c.152C>T, XM_011535182.3:c.152C>T, XM_011535182.2:c.152C>T, XM_011535182.1:c.152C>T, XM_017020689.3:c.152C>T, XM_017020689.2:c.152C>T, XM_017020689.1:c.152C>T, XM_011535184.3:c.152C>T, XM_011535184.2:c.152C>T, XM_011535184.1:c.152C>T, XM_017020696.3:c.152C>T, XM_017020696.2:c.152C>T, XM_017020696.1:c.152C>T, XM_017020695.3:c.152C>T, XM_017020695.2:c.152C>T, XM_017020695.1:c.152C>T, XM_011535195.2:c.-713C>T, XM_011535195.1:c.-713C>T, NM_001286631.2:c.152C>T, NM_001286631.1:c.152C>T, NM_001366735.2:c.152C>T, NM_001366735.1:c.152C>T, NM_001286632.2:c.152C>T, NM_001286632.1:c.152C>T

                    10.

                    rs1482203271 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      13:79366224 (GRCh38)
                      13:79940359 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:79366223:A:C,NC_000013.11:79366223:A:G
                      Gene:
                      RBM26 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000013.11:g.79366224A>C, NC_000013.11:g.79366224A>G, NC_000013.10:g.79940359A>C, NC_000013.10:g.79940359A>G, XM_005266497.3:c.1137T>G, XM_005266497.3:c.1137T>C, XM_005266497.2:c.1137T>G, XM_005266497.2:c.1137T>C, XM_005266497.1:c.1137T>G, XM_005266497.1:c.1137T>C, XM_006719857.3:c.1137T>G, XM_006719857.3:c.1137T>C, XM_006719857.2:c.1137T>G, XM_006719857.2:c.1137T>C, XM_006719857.1:c.1137T>G, XM_006719857.1:c.1137T>C, XM_017020697.3:c.1137T>G, XM_017020697.3:c.1137T>C, XM_017020697.2:c.1137T>G, XM_017020697.2:c.1137T>C, XM_017020697.1:c.1137T>G, XM_017020697.1:c.1137T>C, XM_011535179.3:c.1137T>G, XM_011535179.3:c.1137T>C, XM_011535179.2:c.1137T>G, XM_011535179.2:c.1137T>C, XM_011535179.1:c.1137T>G, XM_011535179.1:c.1137T>C, XM_011535181.3:c.1137T>G, XM_011535181.3:c.1137T>C, XM_011535181.2:c.1137T>G, XM_011535181.2:c.1137T>C, XM_011535181.1:c.1137T>G, XM_011535181.1:c.1137T>C, XM_011535182.3:c.1137T>G, XM_011535182.3:c.1137T>C, XM_011535182.2:c.1137T>G, XM_011535182.2:c.1137T>C, XM_011535182.1:c.1137T>G, XM_011535182.1:c.1137T>C, XM_017020689.3:c.1137T>G, XM_017020689.3:c.1137T>C, XM_017020689.2:c.1137T>G, XM_017020689.2:c.1137T>C, XM_017020689.1:c.1137T>G, XM_017020689.1:c.1137T>C, XM_017020696.3:c.1137T>G, XM_017020696.3:c.1137T>C, XM_017020696.2:c.1137T>G, XM_017020696.2:c.1137T>C, XM_017020696.1:c.1137T>G, XM_017020696.1:c.1137T>C, XM_017020695.3:c.1137T>G, XM_017020695.3:c.1137T>C, XM_017020695.2:c.1137T>G, XM_017020695.2:c.1137T>C, XM_017020695.1:c.1137T>G, XM_017020695.1:c.1137T>C, XM_011535195.2:c.273T>G, XM_011535195.2:c.273T>C, XM_011535195.1:c.273T>G, XM_011535195.1:c.273T>C, XM_047430510.1:c.1137T>G, XM_047430510.1:c.1137T>C, XM_047430511.1:c.1137T>G, XM_047430511.1:c.1137T>C, XM_047430514.1:c.1137T>G, XM_047430514.1:c.1137T>C, XM_047430523.1:c.1137T>G, XM_047430523.1:c.1137T>C, XM_047430524.1:c.1137T>G, XM_047430524.1:c.1137T>C, XM_047430525.1:c.1137T>G, XM_047430525.1:c.1137T>C, XM_047430526.1:c.1137T>G, XM_047430526.1:c.1137T>C, XM_047430527.1:c.1137T>G, XM_047430527.1:c.1137T>C, XM_047430529.1:c.1137T>G, XM_047430529.1:c.1137T>C, XM_047430528.1:c.1137T>G, XM_047430528.1:c.1137T>C, XM_047430501.1:c.1137T>G, XM_047430501.1:c.1137T>C, XM_047430502.1:c.1137T>G, XM_047430502.1:c.1137T>C, XM_047430503.1:c.1137T>G, XM_047430503.1:c.1137T>C, XM_047430504.1:c.1137T>G, XM_047430504.1:c.1137T>C, XM_047430509.1:c.1137T>G, XM_047430509.1:c.1137T>C, XM_047430512.1:c.1137T>G, XM_047430512.1:c.1137T>C, XM_047430513.1:c.1137T>G, XM_047430513.1:c.1137T>C, XM_047430515.1:c.1137T>G, XM_047430515.1:c.1137T>C, XP_005266554.1:p.Asp379Glu, XP_006719920.1:p.Asp379Glu, XP_016876186.1:p.Asp379Glu, XP_011533481.1:p.Asp379Glu, XP_011533483.1:p.Asp379Glu, XP_011533484.1:p.Asp379Glu, XP_016876178.1:p.Asp379Glu, XP_016876185.1:p.Asp379Glu, XP_016876184.1:p.Asp379Glu, XP_011533497.1:p.Asp91Glu, XP_047286466.1:p.Asp379Glu, XP_047286467.1:p.Asp379Glu, XP_047286470.1:p.Asp379Glu, XP_047286479.1:p.Asp379Glu, XP_047286480.1:p.Asp379Glu, XP_047286481.1:p.Asp379Glu, XP_047286482.1:p.Asp379Glu, XP_047286483.1:p.Asp379Glu, XP_047286485.1:p.Asp379Glu, XP_047286484.1:p.Asp379Glu, XP_047286457.1:p.Asp379Glu, XP_047286458.1:p.Asp379Glu, XP_047286459.1:p.Asp379Glu, XP_047286460.1:p.Asp379Glu, XP_047286465.1:p.Asp379Glu, XP_047286468.1:p.Asp379Glu, XP_047286469.1:p.Asp379Glu, XP_047286471.1:p.Asp379Glu

                      11.

                      rs1481904677 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        13:79354540 (GRCh38)
                        13:79928675 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:79354539:A:C
                        Gene:
                        RBM26 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000013.11:g.79354540A>C, NC_000013.10:g.79928675A>C, NM_022118.5:c.1876T>G, NM_022118.4:c.1876T>G, NM_022118.3:c.1876T>G, XM_011535186.4:c.1885T>G, XM_011535186.3:c.1885T>G, XM_011535186.2:c.1885T>G, XM_011535186.1:c.1885T>G, XM_005266497.3:c.1930T>G, XM_005266497.2:c.1930T>G, XM_005266497.1:c.1930T>G, XM_006719857.3:c.1930T>G, XM_006719857.2:c.1930T>G, XM_006719857.1:c.1930T>G, XM_017020697.3:c.1915T>G, XM_017020697.2:c.1915T>G, XM_017020697.1:c.1915T>G, XM_011535179.3:c.1930T>G, XM_011535179.2:c.1930T>G, XM_011535179.1:c.1930T>G, XM_011535181.3:c.1921T>G, XM_011535181.2:c.1921T>G, XM_011535181.1:c.1921T>G, XM_011535182.3:c.1915T>G, XM_011535182.2:c.1915T>G, XM_011535182.1:c.1915T>G, XM_017020689.3:c.1906T>G, XM_017020689.2:c.1906T>G, XM_017020689.1:c.1906T>G, XM_011535184.3:c.1900T>G, XM_011535184.2:c.1900T>G, XM_011535184.1:c.1900T>G, XM_017020696.3:c.1915T>G, XM_017020696.2:c.1915T>G, XM_017020696.1:c.1915T>G, XM_017020695.3:c.1906T>G, XM_017020695.2:c.1906T>G, XM_017020695.1:c.1906T>G, XM_011535195.2:c.1066T>G, XM_011535195.1:c.1066T>G, NM_001286631.2:c.1891T>G, NM_001286631.1:c.1891T>G, NM_001366735.2:c.1885T>G, NM_001366735.1:c.1885T>G, NM_001286632.2:c.1885T>G, NM_001286632.1:c.1885T>G, XM_047430510.1:c.1921T>G, XM_047430511.1:c.1915T>G, XM_047430514.1:c.1906T>G, XM_047430516.1:c.1900T>G, XM_047430519.1:c.1885T>G, XM_047430522.1:c.1885T>G, XM_047430521.1:c.1876T>G, XM_047430523.1:c.1930T>G, XM_047430524.1:c.1930T>G, XM_047430525.1:c.1921T>G, XM_047430526.1:c.1921T>G, XM_047430527.1:c.1915T>G, XM_047430529.1:c.1915T>G, XM_047430528.1:c.1906T>G, XM_047430530.1:c.1900T>G, XM_047430531.1:c.1900T>G, XM_047430532.1:c.1891T>G, XM_047430533.1:c.1885T>G, XM_047430534.1:c.1885T>G, XM_047430535.1:c.1876T>G, XM_047430536.1:c.1876T>G, XM_047430501.1:c.1930T>G, XM_047430502.1:c.1921T>G, XM_047430503.1:c.1915T>G, XM_047430504.1:c.1906T>G, XM_047430506.1:c.1900T>G, XM_047430507.1:c.1876T>G, XM_047430509.1:c.1930T>G, XM_047430512.1:c.1921T>G, XM_047430513.1:c.1915T>G, XM_047430515.1:c.1906T>G, XM_047430517.1:c.1900T>G, XM_047430518.1:c.1891T>G, XM_047430508.1:c.1876T>G, NP_071401.3:p.Leu626Val, XP_011533488.1:p.Leu629Val, XP_005266554.1:p.Leu644Val, XP_006719920.1:p.Leu644Val, XP_016876186.1:p.Leu639Val, XP_011533481.1:p.Leu644Val, XP_011533483.1:p.Leu641Val, XP_011533484.1:p.Leu639Val, XP_016876178.1:p.Leu636Val, XP_011533486.1:p.Leu634Val, XP_016876185.1:p.Leu639Val, XP_016876184.1:p.Leu636Val, XP_011533497.1:p.Leu356Val, NP_001273560.1:p.Leu631Val, NP_001353664.1:p.Leu629Val, NP_001273561.1:p.Leu629Val, XP_047286466.1:p.Leu641Val, XP_047286467.1:p.Leu639Val, XP_047286470.1:p.Leu636Val, XP_047286472.1:p.Leu634Val, XP_047286475.1:p.Leu629Val, XP_047286478.1:p.Leu629Val, XP_047286477.1:p.Leu626Val, XP_047286479.1:p.Leu644Val, XP_047286480.1:p.Leu644Val, XP_047286481.1:p.Leu641Val, XP_047286482.1:p.Leu641Val, XP_047286483.1:p.Leu639Val, XP_047286485.1:p.Leu639Val, XP_047286484.1:p.Leu636Val, XP_047286486.1:p.Leu634Val, XP_047286487.1:p.Leu634Val, XP_047286488.1:p.Leu631Val, XP_047286489.1:p.Leu629Val, XP_047286490.1:p.Leu629Val, XP_047286491.1:p.Leu626Val, XP_047286492.1:p.Leu626Val, XP_047286457.1:p.Leu644Val, XP_047286458.1:p.Leu641Val, XP_047286459.1:p.Leu639Val, XP_047286460.1:p.Leu636Val, XP_047286462.1:p.Leu634Val, XP_047286463.1:p.Leu626Val, XP_047286465.1:p.Leu644Val, XP_047286468.1:p.Leu641Val, XP_047286469.1:p.Leu639Val, XP_047286471.1:p.Leu636Val, XP_047286473.1:p.Leu634Val, XP_047286474.1:p.Leu631Val, XP_047286464.1:p.Leu626Val

                        12.

                        rs1480361762 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TCT>- [Show Flanks]
                          Chromosome:
                          13:79370970 (GRCh38)
                          13:79945105 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:79370967:CTTCT:CT
                          Gene:
                          RBM26 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,inframe_deletion,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.79370970_79370972del, NC_000013.10:g.79945105_79945107del, NM_022118.5:c.609_611del, NM_022118.4:c.609_611del, NM_022118.3:c.609_611del, XM_011535186.4:c.609_611del, XM_011535186.3:c.609_611del, XM_011535186.2:c.609_611del, XM_011535186.1:c.609_611del, XM_005266497.3:c.609_611del, XM_005266497.2:c.609_611del, XM_005266497.1:c.609_611del, XM_006719857.3:c.609_611del, XM_006719857.2:c.609_611del, XM_006719857.1:c.609_611del, XM_017020697.3:c.609_611del, XM_017020697.2:c.609_611del, XM_017020697.1:c.609_611del, XM_011535179.3:c.609_611del, XM_011535179.2:c.609_611del, XM_011535179.1:c.609_611del, XM_011535181.3:c.609_611del, XM_011535181.2:c.609_611del, XM_011535181.1:c.609_611del, XM_011535182.3:c.609_611del, XM_011535182.2:c.609_611del, XM_011535182.1:c.609_611del, XM_017020689.3:c.609_611del, XM_017020689.2:c.609_611del, XM_017020689.1:c.609_611del, XM_011535184.3:c.609_611del, XM_011535184.2:c.609_611del, XM_011535184.1:c.609_611del, XM_017020696.3:c.609_611del, XM_017020696.2:c.609_611del, XM_017020696.1:c.609_611del, XM_017020695.3:c.609_611del, XM_017020695.2:c.609_611del, XM_017020695.1:c.609_611del, XM_011535195.2:c.-256_-254del, XM_011535195.1:c.-256_-254del, NM_001286631.2:c.609_611del, NM_001286631.1:c.609_611del, NM_001366735.2:c.609_611del, NM_001366735.1:c.609_611del, NM_001286632.2:c.609_611del, NM_001286632.1:c.609_611del, XM_047430510.1:c.609_611del, XM_047430511.1:c.609_611del, XM_047430514.1:c.609_611del, XM_047430516.1:c.609_611del, XM_047430519.1:c.609_611del, XM_047430522.1:c.609_611del, XM_047430521.1:c.609_611del, XM_047430523.1:c.609_611del, XM_047430524.1:c.609_611del, XM_047430525.1:c.609_611del, XM_047430526.1:c.609_611del, XM_047430527.1:c.609_611del, XM_047430529.1:c.609_611del, XM_047430528.1:c.609_611del, XM_047430530.1:c.609_611del, XM_047430531.1:c.609_611del, XM_047430532.1:c.609_611del, XM_047430533.1:c.609_611del, XM_047430534.1:c.609_611del, XM_047430535.1:c.609_611del, XM_047430536.1:c.609_611del, XM_047430501.1:c.609_611del, XM_047430502.1:c.609_611del, XM_047430503.1:c.609_611del, XM_047430504.1:c.609_611del, XM_047430506.1:c.609_611del, XM_047430507.1:c.609_611del, XM_047430509.1:c.609_611del, XM_047430512.1:c.609_611del, XM_047430513.1:c.609_611del, XM_047430515.1:c.609_611del, XM_047430517.1:c.609_611del, XM_047430518.1:c.609_611del, XM_047430508.1:c.609_611del, NP_071401.3:p.Arg203del, XP_011533488.1:p.Arg203del, XP_005266554.1:p.Arg203del, XP_006719920.1:p.Arg203del, XP_016876186.1:p.Arg203del, XP_011533481.1:p.Arg203del, XP_011533483.1:p.Arg203del, XP_011533484.1:p.Arg203del, XP_016876178.1:p.Arg203del, XP_011533486.1:p.Arg203del, XP_016876185.1:p.Arg203del, XP_016876184.1:p.Arg203del, NP_001273560.1:p.Arg203del, NP_001353664.1:p.Arg203del, NP_001273561.1:p.Arg203del, XP_047286466.1:p.Arg203del, XP_047286467.1:p.Arg203del, XP_047286470.1:p.Arg203del, XP_047286472.1:p.Arg203del, XP_047286475.1:p.Arg203del, XP_047286478.1:p.Arg203del, XP_047286477.1:p.Arg203del, XP_047286479.1:p.Arg203del, XP_047286480.1:p.Arg203del, XP_047286481.1:p.Arg203del, XP_047286482.1:p.Arg203del, XP_047286483.1:p.Arg203del, XP_047286485.1:p.Arg203del, XP_047286484.1:p.Arg203del, XP_047286486.1:p.Arg203del, XP_047286487.1:p.Arg203del, XP_047286488.1:p.Arg203del, XP_047286489.1:p.Arg203del, XP_047286490.1:p.Arg203del, XP_047286491.1:p.Arg203del, XP_047286492.1:p.Arg203del, XP_047286457.1:p.Arg203del, XP_047286458.1:p.Arg203del, XP_047286459.1:p.Arg203del, XP_047286460.1:p.Arg203del, XP_047286462.1:p.Arg203del, XP_047286463.1:p.Arg203del, XP_047286465.1:p.Arg203del, XP_047286468.1:p.Arg203del, XP_047286469.1:p.Arg203del, XP_047286471.1:p.Arg203del, XP_047286473.1:p.Arg203del, XP_047286474.1:p.Arg203del, XP_047286464.1:p.Arg203del

                          13.

                          rs1477965286 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            13:79334362 (GRCh38)
                            13:79908497 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:79334361:T:C
                            Gene:
                            RBM26 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000047/1 (ALFA)
                            C=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.79334362T>C, NC_000013.10:g.79908497T>C, NM_022118.5:c.2721A>G, NM_022118.4:c.2721A>G, NM_022118.3:c.2721A>G, XM_011535186.4:c.2802A>G, XM_011535186.3:c.2802A>G, XM_011535186.2:c.2802A>G, XM_011535186.1:c.2802A>G, XM_005266497.3:c.2847A>G, XM_005266497.2:c.2847A>G, XM_005266497.1:c.2847A>G, XM_006719857.3:c.2847A>G, XM_006719857.2:c.2847A>G, XM_006719857.1:c.2847A>G, XM_017020697.3:c.2832A>G, XM_017020697.2:c.2832A>G, XM_017020697.1:c.2832A>G, XM_011535179.3:c.2847A>G, XM_011535179.2:c.2847A>G, XM_011535179.1:c.2847A>G, XM_011535181.3:c.2838A>G, XM_011535181.2:c.2838A>G, XM_011535181.1:c.2838A>G, XM_011535182.3:c.2832A>G, XM_011535182.2:c.2832A>G, XM_011535182.1:c.2832A>G, XM_017020689.3:c.2823A>G, XM_017020689.2:c.2823A>G, XM_017020689.1:c.2823A>G, XM_011535184.3:c.2817A>G, XM_011535184.2:c.2817A>G, XM_011535184.1:c.2817A>G, XM_017020696.3:c.2760A>G, XM_017020696.2:c.2760A>G, XM_017020696.1:c.2760A>G, XM_017020695.3:c.2751A>G, XM_017020695.2:c.2751A>G, XM_017020695.1:c.2751A>G, XM_011535195.2:c.1983A>G, XM_011535195.1:c.1983A>G, NM_001286631.2:c.2808A>G, NM_001286631.1:c.2808A>G, NM_001366735.2:c.2802A>G, NM_001366735.1:c.2802A>G, NM_001286632.2:c.2730A>G, NM_001286632.1:c.2730A>G, XM_047430510.1:c.2838A>G, XM_047430511.1:c.2832A>G, XM_047430514.1:c.2823A>G, XM_047430516.1:c.2817A>G, XM_047430519.1:c.2802A>G, XM_047430522.1:c.2802A>G, XM_047430521.1:c.2793A>G, XM_047430523.1:c.2775A>G, XM_047430524.1:c.2775A>G, XM_047430525.1:c.2766A>G, XM_047430526.1:c.2766A>G, XM_047430527.1:c.2760A>G, XM_047430529.1:c.2760A>G, XM_047430528.1:c.2751A>G, XM_047430530.1:c.2745A>G, XM_047430531.1:c.2745A>G, XM_047430532.1:c.2736A>G, XM_047430533.1:c.2730A>G, XM_047430534.1:c.2730A>G, XM_047430535.1:c.2721A>G, XM_047430536.1:c.2721A>G, XM_047430501.1:c.2847A>G, XM_047430502.1:c.2838A>G, XM_047430503.1:c.2832A>G, XM_047430504.1:c.2823A>G, XM_047430506.1:c.2817A>G, XM_047430507.1:c.2793A>G, XM_047430509.1:c.2775A>G, XM_047430512.1:c.2766A>G, XM_047430513.1:c.2760A>G, XM_047430515.1:c.2751A>G, XM_047430517.1:c.2745A>G, XM_047430518.1:c.2736A>G, XM_047430508.1:c.2793A>G

                            14.

                            rs1477425063 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              13:79354546 (GRCh38)
                              13:79928681 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:79354545:G:A,NC_000013.11:79354545:G:C
                              Gene:
                              RBM26 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000028/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              A=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.79354546G>A, NC_000013.11:g.79354546G>C, NC_000013.10:g.79928681G>A, NC_000013.10:g.79928681G>C, NM_022118.5:c.1870C>T, NM_022118.5:c.1870C>G, NM_022118.4:c.1870C>T, NM_022118.4:c.1870C>G, NM_022118.3:c.1870C>T, NM_022118.3:c.1870C>G, XM_011535186.4:c.1879C>T, XM_011535186.4:c.1879C>G, XM_011535186.3:c.1879C>T, XM_011535186.3:c.1879C>G, XM_011535186.2:c.1879C>T, XM_011535186.2:c.1879C>G, XM_011535186.1:c.1879C>T, XM_011535186.1:c.1879C>G, XM_005266497.3:c.1924C>T, XM_005266497.3:c.1924C>G, XM_005266497.2:c.1924C>T, XM_005266497.2:c.1924C>G, XM_005266497.1:c.1924C>T, XM_005266497.1:c.1924C>G, XM_006719857.3:c.1924C>T, XM_006719857.3:c.1924C>G, XM_006719857.2:c.1924C>T, XM_006719857.2:c.1924C>G, XM_006719857.1:c.1924C>T, XM_006719857.1:c.1924C>G, XM_017020697.3:c.1909C>T, XM_017020697.3:c.1909C>G, XM_017020697.2:c.1909C>T, XM_017020697.2:c.1909C>G, XM_017020697.1:c.1909C>T, XM_017020697.1:c.1909C>G, XM_011535179.3:c.1924C>T, XM_011535179.3:c.1924C>G, XM_011535179.2:c.1924C>T, XM_011535179.2:c.1924C>G, XM_011535179.1:c.1924C>T, XM_011535179.1:c.1924C>G, XM_011535181.3:c.1915C>T, XM_011535181.3:c.1915C>G, XM_011535181.2:c.1915C>T, XM_011535181.2:c.1915C>G, XM_011535181.1:c.1915C>T, XM_011535181.1:c.1915C>G, XM_011535182.3:c.1909C>T, XM_011535182.3:c.1909C>G, XM_011535182.2:c.1909C>T, XM_011535182.2:c.1909C>G, XM_011535182.1:c.1909C>T, XM_011535182.1:c.1909C>G, XM_017020689.3:c.1900C>T, XM_017020689.3:c.1900C>G, XM_017020689.2:c.1900C>T, XM_017020689.2:c.1900C>G, XM_017020689.1:c.1900C>T, XM_017020689.1:c.1900C>G, XM_011535184.3:c.1894C>T, XM_011535184.3:c.1894C>G, XM_011535184.2:c.1894C>T, XM_011535184.2:c.1894C>G, XM_011535184.1:c.1894C>T, XM_011535184.1:c.1894C>G, XM_017020696.3:c.1909C>T, XM_017020696.3:c.1909C>G, XM_017020696.2:c.1909C>T, XM_017020696.2:c.1909C>G, XM_017020696.1:c.1909C>T, XM_017020696.1:c.1909C>G, XM_017020695.3:c.1900C>T, XM_017020695.3:c.1900C>G, XM_017020695.2:c.1900C>T, XM_017020695.2:c.1900C>G, XM_017020695.1:c.1900C>T, XM_017020695.1:c.1900C>G, XM_011535195.2:c.1060C>T, XM_011535195.2:c.1060C>G, XM_011535195.1:c.1060C>T, XM_011535195.1:c.1060C>G, NM_001286631.2:c.1885C>T, NM_001286631.2:c.1885C>G, NM_001286631.1:c.1885C>T, NM_001286631.1:c.1885C>G, NM_001366735.2:c.1879C>T, NM_001366735.2:c.1879C>G, NM_001366735.1:c.1879C>T, NM_001366735.1:c.1879C>G, NM_001286632.2:c.1879C>T, NM_001286632.2:c.1879C>G, NM_001286632.1:c.1879C>T, NM_001286632.1:c.1879C>G, XM_047430510.1:c.1915C>T, XM_047430510.1:c.1915C>G, XM_047430511.1:c.1909C>T, XM_047430511.1:c.1909C>G, XM_047430514.1:c.1900C>T, XM_047430514.1:c.1900C>G, XM_047430516.1:c.1894C>T, XM_047430516.1:c.1894C>G, XM_047430519.1:c.1879C>T, XM_047430519.1:c.1879C>G, XM_047430522.1:c.1879C>T, XM_047430522.1:c.1879C>G, XM_047430521.1:c.1870C>T, XM_047430521.1:c.1870C>G, XM_047430523.1:c.1924C>T, XM_047430523.1:c.1924C>G, XM_047430524.1:c.1924C>T, XM_047430524.1:c.1924C>G, XM_047430525.1:c.1915C>T, XM_047430525.1:c.1915C>G, XM_047430526.1:c.1915C>T, XM_047430526.1:c.1915C>G, XM_047430527.1:c.1909C>T, XM_047430527.1:c.1909C>G, XM_047430529.1:c.1909C>T, XM_047430529.1:c.1909C>G, XM_047430528.1:c.1900C>T, XM_047430528.1:c.1900C>G, XM_047430530.1:c.1894C>T, XM_047430530.1:c.1894C>G, XM_047430531.1:c.1894C>T, XM_047430531.1:c.1894C>G, XM_047430532.1:c.1885C>T, XM_047430532.1:c.1885C>G, XM_047430533.1:c.1879C>T, XM_047430533.1:c.1879C>G, XM_047430534.1:c.1879C>T, XM_047430534.1:c.1879C>G, XM_047430535.1:c.1870C>T, XM_047430535.1:c.1870C>G, XM_047430536.1:c.1870C>T, XM_047430536.1:c.1870C>G, XM_047430501.1:c.1924C>T, XM_047430501.1:c.1924C>G, XM_047430502.1:c.1915C>T, XM_047430502.1:c.1915C>G, XM_047430503.1:c.1909C>T, XM_047430503.1:c.1909C>G, XM_047430504.1:c.1900C>T, XM_047430504.1:c.1900C>G, XM_047430506.1:c.1894C>T, XM_047430506.1:c.1894C>G, XM_047430507.1:c.1870C>T, XM_047430507.1:c.1870C>G, XM_047430509.1:c.1924C>T, XM_047430509.1:c.1924C>G, XM_047430512.1:c.1915C>T, XM_047430512.1:c.1915C>G, XM_047430513.1:c.1909C>T, XM_047430513.1:c.1909C>G, XM_047430515.1:c.1900C>T, XM_047430515.1:c.1900C>G, XM_047430517.1:c.1894C>T, XM_047430517.1:c.1894C>G, XM_047430518.1:c.1885C>T, XM_047430518.1:c.1885C>G, XM_047430508.1:c.1870C>T, XM_047430508.1:c.1870C>G, NP_071401.3:p.Pro624Ser, NP_071401.3:p.Pro624Ala, XP_011533488.1:p.Pro627Ser, XP_011533488.1:p.Pro627Ala, XP_005266554.1:p.Pro642Ser, XP_005266554.1:p.Pro642Ala, XP_006719920.1:p.Pro642Ser, XP_006719920.1:p.Pro642Ala, XP_016876186.1:p.Pro637Ser, XP_016876186.1:p.Pro637Ala, XP_011533481.1:p.Pro642Ser, XP_011533481.1:p.Pro642Ala, XP_011533483.1:p.Pro639Ser, XP_011533483.1:p.Pro639Ala, XP_011533484.1:p.Pro637Ser, XP_011533484.1:p.Pro637Ala, XP_016876178.1:p.Pro634Ser, XP_016876178.1:p.Pro634Ala, XP_011533486.1:p.Pro632Ser, XP_011533486.1:p.Pro632Ala, XP_016876185.1:p.Pro637Ser, XP_016876185.1:p.Pro637Ala, XP_016876184.1:p.Pro634Ser, XP_016876184.1:p.Pro634Ala, XP_011533497.1:p.Pro354Ser, XP_011533497.1:p.Pro354Ala, NP_001273560.1:p.Pro629Ser, NP_001273560.1:p.Pro629Ala, NP_001353664.1:p.Pro627Ser, NP_001353664.1:p.Pro627Ala, NP_001273561.1:p.Pro627Ser, NP_001273561.1:p.Pro627Ala, XP_047286466.1:p.Pro639Ser, XP_047286466.1:p.Pro639Ala, XP_047286467.1:p.Pro637Ser, XP_047286467.1:p.Pro637Ala, XP_047286470.1:p.Pro634Ser, XP_047286470.1:p.Pro634Ala, XP_047286472.1:p.Pro632Ser, XP_047286472.1:p.Pro632Ala, XP_047286475.1:p.Pro627Ser, XP_047286475.1:p.Pro627Ala, XP_047286478.1:p.Pro627Ser, XP_047286478.1:p.Pro627Ala, XP_047286477.1:p.Pro624Ser, XP_047286477.1:p.Pro624Ala, XP_047286479.1:p.Pro642Ser, XP_047286479.1:p.Pro642Ala, XP_047286480.1:p.Pro642Ser, XP_047286480.1:p.Pro642Ala, XP_047286481.1:p.Pro639Ser, XP_047286481.1:p.Pro639Ala, XP_047286482.1:p.Pro639Ser, XP_047286482.1:p.Pro639Ala, XP_047286483.1:p.Pro637Ser, XP_047286483.1:p.Pro637Ala, XP_047286485.1:p.Pro637Ser, XP_047286485.1:p.Pro637Ala, XP_047286484.1:p.Pro634Ser, XP_047286484.1:p.Pro634Ala, XP_047286486.1:p.Pro632Ser, XP_047286486.1:p.Pro632Ala, XP_047286487.1:p.Pro632Ser, XP_047286487.1:p.Pro632Ala, XP_047286488.1:p.Pro629Ser, XP_047286488.1:p.Pro629Ala, XP_047286489.1:p.Pro627Ser, XP_047286489.1:p.Pro627Ala, XP_047286490.1:p.Pro627Ser, XP_047286490.1:p.Pro627Ala, XP_047286491.1:p.Pro624Ser, XP_047286491.1:p.Pro624Ala, XP_047286492.1:p.Pro624Ser, XP_047286492.1:p.Pro624Ala, XP_047286457.1:p.Pro642Ser, XP_047286457.1:p.Pro642Ala, XP_047286458.1:p.Pro639Ser, XP_047286458.1:p.Pro639Ala, XP_047286459.1:p.Pro637Ser, XP_047286459.1:p.Pro637Ala, XP_047286460.1:p.Pro634Ser, XP_047286460.1:p.Pro634Ala, XP_047286462.1:p.Pro632Ser, XP_047286462.1:p.Pro632Ala, XP_047286463.1:p.Pro624Ser, XP_047286463.1:p.Pro624Ala, XP_047286465.1:p.Pro642Ser, XP_047286465.1:p.Pro642Ala, XP_047286468.1:p.Pro639Ser, XP_047286468.1:p.Pro639Ala, XP_047286469.1:p.Pro637Ser, XP_047286469.1:p.Pro637Ala, XP_047286471.1:p.Pro634Ser, XP_047286471.1:p.Pro634Ala, XP_047286473.1:p.Pro632Ser, XP_047286473.1:p.Pro632Ala, XP_047286474.1:p.Pro629Ser, XP_047286474.1:p.Pro629Ala, XP_047286464.1:p.Pro624Ser, XP_047286464.1:p.Pro624Ala

                              15.

                              rs1474890029 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                13:79366131 (GRCh38)
                                13:79940266 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:79366130:G:C
                                Gene:
                                RBM26 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000028/1 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000013.11:g.79366131G>C, NC_000013.10:g.79940266G>C, NM_022118.5:c.1200C>G, NM_022118.4:c.1200C>G, NM_022118.3:c.1200C>G, XM_011535186.4:c.1200C>G, XM_011535186.3:c.1200C>G, XM_011535186.2:c.1200C>G, XM_011535186.1:c.1200C>G, XM_005266497.3:c.1230C>G, XM_005266497.2:c.1230C>G, XM_005266497.1:c.1230C>G, XM_006719857.3:c.1230C>G, XM_006719857.2:c.1230C>G, XM_006719857.1:c.1230C>G, XM_017020697.3:c.1230C>G, XM_017020697.2:c.1230C>G, XM_017020697.1:c.1230C>G, XM_011535179.3:c.1230C>G, XM_011535179.2:c.1230C>G, XM_011535179.1:c.1230C>G, XM_011535181.3:c.1230C>G, XM_011535181.2:c.1230C>G, XM_011535181.1:c.1230C>G, XM_011535182.3:c.1230C>G, XM_011535182.2:c.1230C>G, XM_011535182.1:c.1230C>G, XM_017020689.3:c.1230C>G, XM_017020689.2:c.1230C>G, XM_017020689.1:c.1230C>G, XM_011535184.3:c.1200C>G, XM_011535184.2:c.1200C>G, XM_011535184.1:c.1200C>G, XM_017020696.3:c.1230C>G, XM_017020696.2:c.1230C>G, XM_017020696.1:c.1230C>G, XM_017020695.3:c.1230C>G, XM_017020695.2:c.1230C>G, XM_017020695.1:c.1230C>G, XM_011535195.2:c.366C>G, XM_011535195.1:c.366C>G, NM_001286631.2:c.1200C>G, NM_001286631.1:c.1200C>G, NM_001366735.2:c.1200C>G, NM_001366735.1:c.1200C>G, NM_001286632.2:c.1200C>G, NM_001286632.1:c.1200C>G, XM_047430510.1:c.1230C>G, XM_047430511.1:c.1230C>G, XM_047430514.1:c.1230C>G, XM_047430516.1:c.1200C>G, XM_047430519.1:c.1200C>G, XM_047430522.1:c.1200C>G, XM_047430521.1:c.1200C>G, XM_047430523.1:c.1230C>G, XM_047430524.1:c.1230C>G, XM_047430525.1:c.1230C>G, XM_047430526.1:c.1230C>G, XM_047430527.1:c.1230C>G, XM_047430529.1:c.1230C>G, XM_047430528.1:c.1230C>G, XM_047430530.1:c.1200C>G, XM_047430531.1:c.1200C>G, XM_047430532.1:c.1200C>G, XM_047430533.1:c.1200C>G, XM_047430534.1:c.1200C>G, XM_047430535.1:c.1200C>G, XM_047430536.1:c.1200C>G, XM_047430501.1:c.1230C>G, XM_047430502.1:c.1230C>G, XM_047430503.1:c.1230C>G, XM_047430504.1:c.1230C>G, XM_047430506.1:c.1200C>G, XM_047430507.1:c.1200C>G, XM_047430509.1:c.1230C>G, XM_047430512.1:c.1230C>G, XM_047430513.1:c.1230C>G, XM_047430515.1:c.1230C>G, XM_047430517.1:c.1200C>G, XM_047430518.1:c.1200C>G, XM_047430508.1:c.1200C>G

                                16.

                                rs1474738616 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:79378892 (GRCh38)
                                  13:79953027 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:79378891:T:C
                                  Gene:
                                  RBM26 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000013.11:g.79378892T>C, NC_000013.10:g.79953027T>C, NM_022118.5:c.87A>G, NM_022118.4:c.87A>G, NM_022118.3:c.87A>G, XM_011535186.4:c.87A>G, XM_011535186.3:c.87A>G, XM_011535186.2:c.87A>G, XM_011535186.1:c.87A>G, XM_005266497.3:c.87A>G, XM_005266497.2:c.87A>G, XM_005266497.1:c.87A>G, XM_006719857.3:c.87A>G, XM_006719857.2:c.87A>G, XM_006719857.1:c.87A>G, XM_017020697.3:c.87A>G, XM_017020697.2:c.87A>G, XM_017020697.1:c.87A>G, XM_011535179.3:c.87A>G, XM_011535179.2:c.87A>G, XM_011535179.1:c.87A>G, XM_011535181.3:c.87A>G, XM_011535181.2:c.87A>G, XM_011535181.1:c.87A>G, XM_011535182.3:c.87A>G, XM_011535182.2:c.87A>G, XM_011535182.1:c.87A>G, XM_017020689.3:c.87A>G, XM_017020689.2:c.87A>G, XM_017020689.1:c.87A>G, XM_011535184.3:c.87A>G, XM_011535184.2:c.87A>G, XM_011535184.1:c.87A>G, XM_017020696.3:c.87A>G, XM_017020696.2:c.87A>G, XM_017020696.1:c.87A>G, XM_017020695.3:c.87A>G, XM_017020695.2:c.87A>G, XM_017020695.1:c.87A>G, XM_011535195.2:c.-778A>G, XM_011535195.1:c.-778A>G, NM_001286631.2:c.87A>G, NM_001286631.1:c.87A>G, NM_001366735.2:c.87A>G, NM_001366735.1:c.87A>G, NM_001286632.2:c.87A>G, NM_001286632.1:c.87A>G

                                  17.

                                  rs1474293075 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    13:79368974 (GRCh38)
                                    13:79943109 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:79368973:T:C
                                    Gene:
                                    RBM26 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000013.11:g.79368974T>C, NC_000013.10:g.79943109T>C, NM_022118.5:c.651A>G, NM_022118.4:c.651A>G, NM_022118.3:c.651A>G, XM_011535186.4:c.651A>G, XM_011535186.3:c.651A>G, XM_011535186.2:c.651A>G, XM_011535186.1:c.651A>G, XM_005266497.3:c.651A>G, XM_005266497.2:c.651A>G, XM_005266497.1:c.651A>G, XM_006719857.3:c.651A>G, XM_006719857.2:c.651A>G, XM_006719857.1:c.651A>G, XM_017020697.3:c.651A>G, XM_017020697.2:c.651A>G, XM_017020697.1:c.651A>G, XM_011535179.3:c.651A>G, XM_011535179.2:c.651A>G, XM_011535179.1:c.651A>G, XM_011535181.3:c.651A>G, XM_011535181.2:c.651A>G, XM_011535181.1:c.651A>G, XM_011535182.3:c.651A>G, XM_011535182.2:c.651A>G, XM_011535182.1:c.651A>G, XM_017020689.3:c.651A>G, XM_017020689.2:c.651A>G, XM_017020689.1:c.651A>G, XM_011535184.3:c.651A>G, XM_011535184.2:c.651A>G, XM_011535184.1:c.651A>G, XM_017020696.3:c.651A>G, XM_017020696.2:c.651A>G, XM_017020696.1:c.651A>G, XM_017020695.3:c.651A>G, XM_017020695.2:c.651A>G, XM_017020695.1:c.651A>G, XM_011535195.2:c.-214A>G, XM_011535195.1:c.-214A>G, NM_001286631.2:c.651A>G, NM_001286631.1:c.651A>G, NM_001366735.2:c.651A>G, NM_001366735.1:c.651A>G, NM_001286632.2:c.651A>G, NM_001286632.1:c.651A>G, XM_047430510.1:c.651A>G, XM_047430511.1:c.651A>G, XM_047430514.1:c.651A>G, XM_047430516.1:c.651A>G, XM_047430519.1:c.651A>G, XM_047430522.1:c.651A>G, XM_047430521.1:c.651A>G, XM_047430523.1:c.651A>G, XM_047430524.1:c.651A>G, XM_047430525.1:c.651A>G, XM_047430526.1:c.651A>G, XM_047430527.1:c.651A>G, XM_047430529.1:c.651A>G, XM_047430528.1:c.651A>G, XM_047430530.1:c.651A>G, XM_047430531.1:c.651A>G, XM_047430532.1:c.651A>G, XM_047430533.1:c.651A>G, XM_047430534.1:c.651A>G, XM_047430535.1:c.651A>G, XM_047430536.1:c.651A>G, XM_047430501.1:c.651A>G, XM_047430502.1:c.651A>G, XM_047430503.1:c.651A>G, XM_047430504.1:c.651A>G, XM_047430506.1:c.651A>G, XM_047430507.1:c.651A>G, XM_047430509.1:c.651A>G, XM_047430512.1:c.651A>G, XM_047430513.1:c.651A>G, XM_047430515.1:c.651A>G, XM_047430517.1:c.651A>G, XM_047430518.1:c.651A>G, XM_047430508.1:c.651A>G

                                    18.

                                    rs1473940654 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:79365643 (GRCh38)
                                      13:79939778 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:79365642:C:T
                                      Gene:
                                      RBM26 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000013.11:g.79365643C>T, NC_000013.10:g.79939778C>T, NM_022118.5:c.1352G>A, NM_022118.4:c.1352G>A, NM_022118.3:c.1352G>A, XM_011535186.4:c.1352G>A, XM_011535186.3:c.1352G>A, XM_011535186.2:c.1352G>A, XM_011535186.1:c.1352G>A, XM_005266497.3:c.1397G>A, XM_005266497.2:c.1397G>A, XM_005266497.1:c.1397G>A, XM_006719857.3:c.1397G>A, XM_006719857.2:c.1397G>A, XM_006719857.1:c.1397G>A, XM_017020697.3:c.1382G>A, XM_017020697.2:c.1382G>A, XM_017020697.1:c.1382G>A, XM_011535179.3:c.1397G>A, XM_011535179.2:c.1397G>A, XM_011535179.1:c.1397G>A, XM_011535181.3:c.1397G>A, XM_011535181.2:c.1397G>A, XM_011535181.1:c.1397G>A, XM_011535182.3:c.1382G>A, XM_011535182.2:c.1382G>A, XM_011535182.1:c.1382G>A, XM_017020689.3:c.1382G>A, XM_017020689.2:c.1382G>A, XM_017020689.1:c.1382G>A, XM_011535184.3:c.1367G>A, XM_011535184.2:c.1367G>A, XM_011535184.1:c.1367G>A, XM_017020696.3:c.1382G>A, XM_017020696.2:c.1382G>A, XM_017020696.1:c.1382G>A, XM_017020695.3:c.1382G>A, XM_017020695.2:c.1382G>A, XM_017020695.1:c.1382G>A, XM_011535195.2:c.533G>A, XM_011535195.1:c.533G>A, NM_001286631.2:c.1367G>A, NM_001286631.1:c.1367G>A, NM_001366735.2:c.1352G>A, NM_001366735.1:c.1352G>A, NM_001286632.2:c.1352G>A, NM_001286632.1:c.1352G>A, XM_047430510.1:c.1397G>A, XM_047430511.1:c.1382G>A, XM_047430514.1:c.1382G>A, XM_047430516.1:c.1367G>A, XM_047430519.1:c.1352G>A, XM_047430522.1:c.1352G>A, XM_047430521.1:c.1352G>A, XM_047430523.1:c.1397G>A, XM_047430524.1:c.1397G>A, XM_047430525.1:c.1397G>A, XM_047430526.1:c.1397G>A, XM_047430527.1:c.1382G>A, XM_047430529.1:c.1382G>A, XM_047430528.1:c.1382G>A, XM_047430530.1:c.1367G>A, XM_047430531.1:c.1367G>A, XM_047430532.1:c.1367G>A, XM_047430533.1:c.1352G>A, XM_047430534.1:c.1352G>A, XM_047430535.1:c.1352G>A, XM_047430536.1:c.1352G>A, XM_047430501.1:c.1397G>A, XM_047430502.1:c.1397G>A, XM_047430503.1:c.1382G>A, XM_047430504.1:c.1382G>A, XM_047430506.1:c.1367G>A, XM_047430507.1:c.1352G>A, XM_047430509.1:c.1397G>A, XM_047430512.1:c.1397G>A, XM_047430513.1:c.1382G>A, XM_047430515.1:c.1382G>A, XM_047430517.1:c.1367G>A, XM_047430518.1:c.1367G>A, XM_047430508.1:c.1352G>A, NP_071401.3:p.Arg451Lys, XP_011533488.1:p.Arg451Lys, XP_005266554.1:p.Arg466Lys, XP_006719920.1:p.Arg466Lys, XP_016876186.1:p.Arg461Lys, XP_011533481.1:p.Arg466Lys, XP_011533483.1:p.Arg466Lys, XP_011533484.1:p.Arg461Lys, XP_016876178.1:p.Arg461Lys, XP_011533486.1:p.Arg456Lys, XP_016876185.1:p.Arg461Lys, XP_016876184.1:p.Arg461Lys, XP_011533497.1:p.Arg178Lys, NP_001273560.1:p.Arg456Lys, NP_001353664.1:p.Arg451Lys, NP_001273561.1:p.Arg451Lys, XP_047286466.1:p.Arg466Lys, XP_047286467.1:p.Arg461Lys, XP_047286470.1:p.Arg461Lys, XP_047286472.1:p.Arg456Lys, XP_047286475.1:p.Arg451Lys, XP_047286478.1:p.Arg451Lys, XP_047286477.1:p.Arg451Lys, XP_047286479.1:p.Arg466Lys, XP_047286480.1:p.Arg466Lys, XP_047286481.1:p.Arg466Lys, XP_047286482.1:p.Arg466Lys, XP_047286483.1:p.Arg461Lys, XP_047286485.1:p.Arg461Lys, XP_047286484.1:p.Arg461Lys, XP_047286486.1:p.Arg456Lys, XP_047286487.1:p.Arg456Lys, XP_047286488.1:p.Arg456Lys, XP_047286489.1:p.Arg451Lys, XP_047286490.1:p.Arg451Lys, XP_047286491.1:p.Arg451Lys, XP_047286492.1:p.Arg451Lys, XP_047286457.1:p.Arg466Lys, XP_047286458.1:p.Arg466Lys, XP_047286459.1:p.Arg461Lys, XP_047286460.1:p.Arg461Lys, XP_047286462.1:p.Arg456Lys, XP_047286463.1:p.Arg451Lys, XP_047286465.1:p.Arg466Lys, XP_047286468.1:p.Arg466Lys, XP_047286469.1:p.Arg461Lys, XP_047286471.1:p.Arg461Lys, XP_047286473.1:p.Arg456Lys, XP_047286474.1:p.Arg456Lys, XP_047286464.1:p.Arg451Lys

                                      19.

                                      rs1473889341 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:79368856 (GRCh38)
                                        13:79942991 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:79368855:C:T
                                        Gene:
                                        RBM26 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000013.11:g.79368856C>T, NC_000013.10:g.79942991C>T, NM_022118.5:c.769G>A, NM_022118.4:c.769G>A, NM_022118.3:c.769G>A, XM_011535186.4:c.769G>A, XM_011535186.3:c.769G>A, XM_011535186.2:c.769G>A, XM_011535186.1:c.769G>A, XM_005266497.3:c.769G>A, XM_005266497.2:c.769G>A, XM_005266497.1:c.769G>A, XM_006719857.3:c.769G>A, XM_006719857.2:c.769G>A, XM_006719857.1:c.769G>A, XM_017020697.3:c.769G>A, XM_017020697.2:c.769G>A, XM_017020697.1:c.769G>A, XM_011535179.3:c.769G>A, XM_011535179.2:c.769G>A, XM_011535179.1:c.769G>A, XM_011535181.3:c.769G>A, XM_011535181.2:c.769G>A, XM_011535181.1:c.769G>A, XM_011535182.3:c.769G>A, XM_011535182.2:c.769G>A, XM_011535182.1:c.769G>A, XM_017020689.3:c.769G>A, XM_017020689.2:c.769G>A, XM_017020689.1:c.769G>A, XM_011535184.3:c.769G>A, XM_011535184.2:c.769G>A, XM_011535184.1:c.769G>A, XM_017020696.3:c.769G>A, XM_017020696.2:c.769G>A, XM_017020696.1:c.769G>A, XM_017020695.3:c.769G>A, XM_017020695.2:c.769G>A, XM_017020695.1:c.769G>A, XM_011535195.2:c.-96G>A, XM_011535195.1:c.-96G>A, NM_001286631.2:c.769G>A, NM_001286631.1:c.769G>A, NM_001366735.2:c.769G>A, NM_001366735.1:c.769G>A, NM_001286632.2:c.769G>A, NM_001286632.1:c.769G>A, XM_047430510.1:c.769G>A, XM_047430511.1:c.769G>A, XM_047430514.1:c.769G>A, XM_047430516.1:c.769G>A, XM_047430519.1:c.769G>A, XM_047430522.1:c.769G>A, XM_047430521.1:c.769G>A, XM_047430523.1:c.769G>A, XM_047430524.1:c.769G>A, XM_047430525.1:c.769G>A, XM_047430526.1:c.769G>A, XM_047430527.1:c.769G>A, XM_047430529.1:c.769G>A, XM_047430528.1:c.769G>A, XM_047430530.1:c.769G>A, XM_047430531.1:c.769G>A, XM_047430532.1:c.769G>A, XM_047430533.1:c.769G>A, XM_047430534.1:c.769G>A, XM_047430535.1:c.769G>A, XM_047430536.1:c.769G>A, XM_047430501.1:c.769G>A, XM_047430502.1:c.769G>A, XM_047430503.1:c.769G>A, XM_047430504.1:c.769G>A, XM_047430506.1:c.769G>A, XM_047430507.1:c.769G>A, XM_047430509.1:c.769G>A, XM_047430512.1:c.769G>A, XM_047430513.1:c.769G>A, XM_047430515.1:c.769G>A, XM_047430517.1:c.769G>A, XM_047430518.1:c.769G>A, XM_047430508.1:c.769G>A, NP_071401.3:p.Val257Ile, XP_011533488.1:p.Val257Ile, XP_005266554.1:p.Val257Ile, XP_006719920.1:p.Val257Ile, XP_016876186.1:p.Val257Ile, XP_011533481.1:p.Val257Ile, XP_011533483.1:p.Val257Ile, XP_011533484.1:p.Val257Ile, XP_016876178.1:p.Val257Ile, XP_011533486.1:p.Val257Ile, XP_016876185.1:p.Val257Ile, XP_016876184.1:p.Val257Ile, NP_001273560.1:p.Val257Ile, NP_001353664.1:p.Val257Ile, NP_001273561.1:p.Val257Ile, XP_047286466.1:p.Val257Ile, XP_047286467.1:p.Val257Ile, XP_047286470.1:p.Val257Ile, XP_047286472.1:p.Val257Ile, XP_047286475.1:p.Val257Ile, XP_047286478.1:p.Val257Ile, XP_047286477.1:p.Val257Ile, XP_047286479.1:p.Val257Ile, XP_047286480.1:p.Val257Ile, XP_047286481.1:p.Val257Ile, XP_047286482.1:p.Val257Ile, XP_047286483.1:p.Val257Ile, XP_047286485.1:p.Val257Ile, XP_047286484.1:p.Val257Ile, XP_047286486.1:p.Val257Ile, XP_047286487.1:p.Val257Ile, XP_047286488.1:p.Val257Ile, XP_047286489.1:p.Val257Ile, XP_047286490.1:p.Val257Ile, XP_047286491.1:p.Val257Ile, XP_047286492.1:p.Val257Ile, XP_047286457.1:p.Val257Ile, XP_047286458.1:p.Val257Ile, XP_047286459.1:p.Val257Ile, XP_047286460.1:p.Val257Ile, XP_047286462.1:p.Val257Ile, XP_047286463.1:p.Val257Ile, XP_047286465.1:p.Val257Ile, XP_047286468.1:p.Val257Ile, XP_047286469.1:p.Val257Ile, XP_047286471.1:p.Val257Ile, XP_047286473.1:p.Val257Ile, XP_047286474.1:p.Val257Ile, XP_047286464.1:p.Val257Ile

                                        20.

                                        rs1471909700 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:79342737 (GRCh38)
                                          13:79916872 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:79342736:G:A
                                          Gene:
                                          RBM26 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.79342737G>A, NC_000013.10:g.79916872G>A, NM_022118.5:c.2273C>T, NM_022118.4:c.2273C>T, NM_022118.3:c.2273C>T, XM_011535186.4:c.2354C>T, XM_011535186.3:c.2354C>T, XM_011535186.2:c.2354C>T, XM_011535186.1:c.2354C>T, XM_005266497.3:c.2399C>T, XM_005266497.2:c.2399C>T, XM_005266497.1:c.2399C>T, XM_006719857.3:c.2399C>T, XM_006719857.2:c.2399C>T, XM_006719857.1:c.2399C>T, XM_017020697.3:c.2384C>T, XM_017020697.2:c.2384C>T, XM_017020697.1:c.2384C>T, XM_011535179.3:c.2399C>T, XM_011535179.2:c.2399C>T, XM_011535179.1:c.2399C>T, XM_011535181.3:c.2390C>T, XM_011535181.2:c.2390C>T, XM_011535181.1:c.2390C>T, XM_011535182.3:c.2384C>T, XM_011535182.2:c.2384C>T, XM_011535182.1:c.2384C>T, XM_017020689.3:c.2375C>T, XM_017020689.2:c.2375C>T, XM_017020689.1:c.2375C>T, XM_011535184.3:c.2369C>T, XM_011535184.2:c.2369C>T, XM_011535184.1:c.2369C>T, XM_017020696.3:c.2312C>T, XM_017020696.2:c.2312C>T, XM_017020696.1:c.2312C>T, XM_017020695.3:c.2303C>T, XM_017020695.2:c.2303C>T, XM_017020695.1:c.2303C>T, XM_011535195.2:c.1535C>T, XM_011535195.1:c.1535C>T, NM_001286631.2:c.2360C>T, NM_001286631.1:c.2360C>T, NM_001366735.2:c.2354C>T, NM_001366735.1:c.2354C>T, NM_001286632.2:c.2282C>T, NM_001286632.1:c.2282C>T, XM_047430510.1:c.2390C>T, XM_047430511.1:c.2384C>T, XM_047430514.1:c.2375C>T, XM_047430516.1:c.2369C>T, XM_047430519.1:c.2354C>T, XM_047430522.1:c.2354C>T, XM_047430521.1:c.2345C>T, XM_047430523.1:c.2327C>T, XM_047430524.1:c.2327C>T, XM_047430525.1:c.2318C>T, XM_047430526.1:c.2318C>T, XM_047430527.1:c.2312C>T, XM_047430529.1:c.2312C>T, XM_047430528.1:c.2303C>T, XM_047430530.1:c.2297C>T, XM_047430531.1:c.2297C>T, XM_047430532.1:c.2288C>T, XM_047430533.1:c.2282C>T, XM_047430534.1:c.2282C>T, XM_047430535.1:c.2273C>T, XM_047430536.1:c.2273C>T, XM_047430501.1:c.2399C>T, XM_047430502.1:c.2390C>T, XM_047430503.1:c.2384C>T, XM_047430504.1:c.2375C>T, XM_047430506.1:c.2369C>T, XM_047430507.1:c.2345C>T, XM_047430509.1:c.2327C>T, XM_047430512.1:c.2318C>T, XM_047430513.1:c.2312C>T, XM_047430515.1:c.2303C>T, XM_047430517.1:c.2297C>T, XM_047430518.1:c.2288C>T, XM_047430508.1:c.2345C>T, NP_071401.3:p.Thr758Ile, XP_011533488.1:p.Thr785Ile, XP_005266554.1:p.Thr800Ile, XP_006719920.1:p.Thr800Ile, XP_016876186.1:p.Thr795Ile, XP_011533481.1:p.Thr800Ile, XP_011533483.1:p.Thr797Ile, XP_011533484.1:p.Thr795Ile, XP_016876178.1:p.Thr792Ile, XP_011533486.1:p.Thr790Ile, XP_016876185.1:p.Thr771Ile, XP_016876184.1:p.Thr768Ile, XP_011533497.1:p.Thr512Ile, NP_001273560.1:p.Thr787Ile, NP_001353664.1:p.Thr785Ile, NP_001273561.1:p.Thr761Ile, XP_047286466.1:p.Thr797Ile, XP_047286467.1:p.Thr795Ile, XP_047286470.1:p.Thr792Ile, XP_047286472.1:p.Thr790Ile, XP_047286475.1:p.Thr785Ile, XP_047286478.1:p.Thr785Ile, XP_047286477.1:p.Thr782Ile, XP_047286479.1:p.Thr776Ile, XP_047286480.1:p.Thr776Ile, XP_047286481.1:p.Thr773Ile, XP_047286482.1:p.Thr773Ile, XP_047286483.1:p.Thr771Ile, XP_047286485.1:p.Thr771Ile, XP_047286484.1:p.Thr768Ile, XP_047286486.1:p.Thr766Ile, XP_047286487.1:p.Thr766Ile, XP_047286488.1:p.Thr763Ile, XP_047286489.1:p.Thr761Ile, XP_047286490.1:p.Thr761Ile, XP_047286491.1:p.Thr758Ile, XP_047286492.1:p.Thr758Ile, XP_047286457.1:p.Thr800Ile, XP_047286458.1:p.Thr797Ile, XP_047286459.1:p.Thr795Ile, XP_047286460.1:p.Thr792Ile, XP_047286462.1:p.Thr790Ile, XP_047286463.1:p.Thr782Ile, XP_047286465.1:p.Thr776Ile, XP_047286468.1:p.Thr773Ile, XP_047286469.1:p.Thr771Ile, XP_047286471.1:p.Thr768Ile, XP_047286473.1:p.Thr766Ile, XP_047286474.1:p.Thr763Ile, XP_047286464.1:p.Thr782Ile

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