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Items: 1 to 20 of 495

1.

rs1490349608 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:49114887 (GRCh38)
    20:47731424 (GRCh37)
    Canonical SPDI:
    NC_000020.11:49114886:C:T
    Gene:
    STAU1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000020.11:g.49114887C>T, NC_000020.10:g.47731424C>T, NG_029453.2:g.119409G>A, NM_017453.4:c.1725G>A, NM_017453.3:c.1725G>A, NM_017453.2:c.1725G>A, NM_004602.4:c.1482G>A, NM_004602.3:c.1482G>A, NM_004602.2:c.1482G>A, NM_017452.4:c.1482G>A, NM_017452.3:c.1482G>A, NM_017452.2:c.1482G>A, NM_017454.4:c.1482G>A, NM_017454.3:c.1482G>A, NM_017454.2:c.1482G>A, NM_001037328.3:c.1500G>A, NM_001037328.2:c.1500G>A, NM_001037328.1:c.1500G>A, NM_001322929.2:c.1725G>A, NM_001322929.1:c.1725G>A, NM_001322931.2:c.1602G>A, NM_001322931.1:c.1602G>A, NM_001322933.2:c.1743G>A, NM_001322933.1:c.1743G>A, NM_001322928.2:c.1620G>A, NM_001322928.1:c.1620G>A, NM_001319135.2:c.1725G>A, NM_001319135.1:c.1725G>A, NM_001322932.2:c.1743G>A, NM_001322932.1:c.1743G>A, NM_001322930.2:c.1725G>A, NM_001322930.1:c.1725G>A, NM_001319134.2:c.1500G>A, NM_001319134.1:c.1500G>A, NM_001322927.2:c.1500G>A, NM_001322927.1:c.1500G>A, XM_006723865.2:c.1743G>A, XM_006723865.1:c.1743G>A, XM_017028028.2:c.1602G>A, XM_017028028.1:c.1602G>A, XM_047440421.1:c.1725G>A, XM_047440417.1:c.1743G>A, XM_047440422.1:c.1725G>A, XM_047440423.1:c.1620G>A, XM_047440415.1:c.1743G>A, XM_047440418.1:c.1725G>A, XM_047440414.1:c.1743G>A, XM_047440419.1:c.1725G>A, XM_005260527.1:c.1500G>A, XM_047440424.1:c.1602G>A, XM_047440416.1:c.1743G>A, XM_047440420.1:c.1725G>A

    2.

    rs1486993087 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      20:49115861 (GRCh38)
      20:47732398 (GRCh37)
      Canonical SPDI:
      NC_000020.11:49115860:G:C
      Gene:
      STAU1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000020.11:g.49115861G>C, NC_000020.10:g.47732398G>C, NG_029453.2:g.118435C>G, NM_017453.4:c.1639C>G, NM_017453.3:c.1639C>G, NM_017453.2:c.1639C>G, NM_004602.4:c.1396C>G, NM_004602.3:c.1396C>G, NM_004602.2:c.1396C>G, NM_017452.4:c.1396C>G, NM_017452.3:c.1396C>G, NM_017452.2:c.1396C>G, NM_017454.4:c.1396C>G, NM_017454.3:c.1396C>G, NM_017454.2:c.1396C>G, NM_001037328.3:c.1414C>G, NM_001037328.2:c.1414C>G, NM_001037328.1:c.1414C>G, NM_001322929.2:c.1639C>G, NM_001322929.1:c.1639C>G, NM_001322931.2:c.1516C>G, NM_001322931.1:c.1516C>G, NM_001322933.2:c.1657C>G, NM_001322933.1:c.1657C>G, NM_001322928.2:c.1534C>G, NM_001322928.1:c.1534C>G, NM_001319135.2:c.1639C>G, NM_001319135.1:c.1639C>G, NM_001322932.2:c.1657C>G, NM_001322932.1:c.1657C>G, NM_001322930.2:c.1639C>G, NM_001322930.1:c.1639C>G, NM_001319134.2:c.1414C>G, NM_001319134.1:c.1414C>G, NM_001322927.2:c.1414C>G, NM_001322927.1:c.1414C>G, XM_006723865.2:c.1657C>G, XM_006723865.1:c.1657C>G, XM_017028028.2:c.1516C>G, XM_017028028.1:c.1516C>G, XM_047440421.1:c.1639C>G, XM_047440417.1:c.1657C>G, XM_047440422.1:c.1639C>G, XM_047440423.1:c.1534C>G, XM_047440415.1:c.1657C>G, XM_047440418.1:c.1639C>G, XM_047440414.1:c.1657C>G, XM_047440419.1:c.1639C>G, XM_005260527.1:c.1414C>G, XM_047440424.1:c.1516C>G, XM_047440416.1:c.1657C>G, XM_047440420.1:c.1639C>G, NP_059347.2:p.Leu547Val, NP_004593.2:p.Leu466Val, NP_059346.2:p.Leu466Val, NP_059348.2:p.Leu466Val, NP_001032405.1:p.Leu472Val, NP_001309858.1:p.Leu547Val, NP_001309860.1:p.Leu506Val, NP_001309862.1:p.Leu553Val, NP_001309857.1:p.Leu512Val, NP_001306064.1:p.Leu547Val, NP_001309861.1:p.Leu553Val, NP_001309859.1:p.Leu547Val, NP_001306063.1:p.Leu472Val, NP_001309856.1:p.Leu472Val, XP_006723928.1:p.Leu553Val, XP_016883517.1:p.Leu506Val, XP_047296377.1:p.Leu547Val, XP_047296373.1:p.Leu553Val, XP_047296378.1:p.Leu547Val, XP_047296379.1:p.Leu512Val, XP_047296371.1:p.Leu553Val, XP_047296374.1:p.Leu547Val, XP_047296370.1:p.Leu553Val, XP_047296375.1:p.Leu547Val, XP_005260584.1:p.Leu472Val, XP_047296380.1:p.Leu506Val, XP_047296372.1:p.Leu553Val, XP_047296376.1:p.Leu547Val

      3.

      rs1486848329 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        20:49151744 (GRCh38)
        20:47768281 (GRCh37)
        Canonical SPDI:
        NC_000020.11:49151743:G:A
        Gene:
        STAU1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.49151744G>A, NC_000020.10:g.47768281G>A, NG_029453.2:g.82552C>T, NM_017453.4:c.348C>T, NM_017453.3:c.348C>T, NM_017453.2:c.348C>T, NM_004602.4:c.105C>T, NM_004602.3:c.105C>T, NM_004602.2:c.105C>T, NM_017452.4:c.105C>T, NM_017452.3:c.105C>T, NM_017452.2:c.105C>T, NM_017454.4:c.105C>T, NM_017454.3:c.105C>T, NM_017454.2:c.105C>T, NM_001037328.3:c.105C>T, NM_001037328.2:c.105C>T, NM_001037328.1:c.105C>T, NM_001322929.2:c.348C>T, NM_001322929.1:c.348C>T, NM_001322931.2:c.225C>T, NM_001322931.1:c.225C>T, NM_001322933.2:c.348C>T, NM_001322933.1:c.348C>T, NM_001322928.2:c.225C>T, NM_001322928.1:c.225C>T, NM_001319135.2:c.348C>T, NM_001319135.1:c.348C>T, NM_001322932.2:c.348C>T, NM_001322932.1:c.348C>T, NM_001322930.2:c.348C>T, NM_001322930.1:c.348C>T, NM_001319134.2:c.105C>T, NM_001319134.1:c.105C>T, NM_001322927.2:c.105C>T, NM_001322927.1:c.105C>T, XM_006723865.2:c.348C>T, XM_006723865.1:c.348C>T, XM_017028028.2:c.225C>T, XM_017028028.1:c.225C>T, XM_047440421.1:c.348C>T, XM_047440417.1:c.348C>T, XM_047440422.1:c.348C>T, XM_047440423.1:c.225C>T, XM_047440415.1:c.348C>T, XM_047440418.1:c.348C>T, XM_047440414.1:c.348C>T, XM_047440419.1:c.348C>T, XM_005260527.1:c.105C>T, XM_047440424.1:c.225C>T, XM_047440416.1:c.348C>T, XM_047440420.1:c.348C>T

        4.

        rs1486374768 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          20:49120088 (GRCh38)
          20:47736625 (GRCh37)
          Canonical SPDI:
          NC_000020.11:49120087:T:A,NC_000020.11:49120087:T:C
          Gene:
          STAU1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000011/3 (TOPMED)
          HGVS:
          NC_000020.11:g.49120088T>A, NC_000020.11:g.49120088T>C, NC_000020.10:g.47736625T>A, NC_000020.10:g.47736625T>C, NG_029453.2:g.114208A>T, NG_029453.2:g.114208A>G, NM_017453.4:c.1007A>T, NM_017453.4:c.1007A>G, NM_017453.3:c.1007A>T, NM_017453.3:c.1007A>G, NM_017453.2:c.1007A>T, NM_017453.2:c.1007A>G, NM_004602.4:c.764A>T, NM_004602.4:c.764A>G, NM_004602.3:c.764A>T, NM_004602.3:c.764A>G, NM_004602.2:c.764A>T, NM_004602.2:c.764A>G, NM_017452.4:c.764A>T, NM_017452.4:c.764A>G, NM_017452.3:c.764A>T, NM_017452.3:c.764A>G, NM_017452.2:c.764A>T, NM_017452.2:c.764A>G, NM_017454.4:c.764A>T, NM_017454.4:c.764A>G, NM_017454.3:c.764A>T, NM_017454.3:c.764A>G, NM_017454.2:c.764A>T, NM_017454.2:c.764A>G, NM_001037328.3:c.782A>T, NM_001037328.3:c.782A>G, NM_001037328.2:c.782A>T, NM_001037328.2:c.782A>G, NM_001037328.1:c.782A>T, NM_001037328.1:c.782A>G, NM_001322929.2:c.1007A>T, NM_001322929.2:c.1007A>G, NM_001322929.1:c.1007A>T, NM_001322929.1:c.1007A>G, NM_001322931.2:c.884A>T, NM_001322931.2:c.884A>G, NM_001322931.1:c.884A>T, NM_001322931.1:c.884A>G, NM_001322933.2:c.1025A>T, NM_001322933.2:c.1025A>G, NM_001322933.1:c.1025A>T, NM_001322933.1:c.1025A>G, NM_001322928.2:c.902A>T, NM_001322928.2:c.902A>G, NM_001322928.1:c.902A>T, NM_001322928.1:c.902A>G, NM_001319135.2:c.1007A>T, NM_001319135.2:c.1007A>G, NM_001319135.1:c.1007A>T, NM_001319135.1:c.1007A>G, NM_001322932.2:c.1025A>T, NM_001322932.2:c.1025A>G, NM_001322932.1:c.1025A>T, NM_001322932.1:c.1025A>G, NM_001322930.2:c.1007A>T, NM_001322930.2:c.1007A>G, NM_001322930.1:c.1007A>T, NM_001322930.1:c.1007A>G, NM_001319134.2:c.782A>T, NM_001319134.2:c.782A>G, NM_001319134.1:c.782A>T, NM_001319134.1:c.782A>G, NM_001322927.2:c.782A>T, NM_001322927.2:c.782A>G, NM_001322927.1:c.782A>T, NM_001322927.1:c.782A>G, XM_006723865.2:c.1025A>T, XM_006723865.2:c.1025A>G, XM_006723865.1:c.1025A>T, XM_006723865.1:c.1025A>G, XM_017028028.2:c.884A>T, XM_017028028.2:c.884A>G, XM_017028028.1:c.884A>T, XM_017028028.1:c.884A>G, XM_047440421.1:c.1007A>T, XM_047440421.1:c.1007A>G, XM_047440417.1:c.1025A>T, XM_047440417.1:c.1025A>G, XM_047440422.1:c.1007A>T, XM_047440422.1:c.1007A>G, XM_047440423.1:c.902A>T, XM_047440423.1:c.902A>G, XM_047440415.1:c.1025A>T, XM_047440415.1:c.1025A>G, XM_047440418.1:c.1007A>T, XM_047440418.1:c.1007A>G, XM_047440414.1:c.1025A>T, XM_047440414.1:c.1025A>G, XM_047440419.1:c.1007A>T, XM_047440419.1:c.1007A>G, XM_005260527.1:c.782A>T, XM_005260527.1:c.782A>G, XM_047440424.1:c.884A>T, XM_047440424.1:c.884A>G, XM_047440416.1:c.1025A>T, XM_047440416.1:c.1025A>G, XM_047440420.1:c.1007A>T, XM_047440420.1:c.1007A>G, NP_059347.2:p.Asn336Ile, NP_059347.2:p.Asn336Ser, NP_004593.2:p.Asn255Ile, NP_004593.2:p.Asn255Ser, NP_059346.2:p.Asn255Ile, NP_059346.2:p.Asn255Ser, NP_059348.2:p.Asn255Ile, NP_059348.2:p.Asn255Ser, NP_001032405.1:p.Asn261Ile, NP_001032405.1:p.Asn261Ser, NP_001309858.1:p.Asn336Ile, NP_001309858.1:p.Asn336Ser, NP_001309860.1:p.Asn295Ile, NP_001309860.1:p.Asn295Ser, NP_001309862.1:p.Asn342Ile, NP_001309862.1:p.Asn342Ser, NP_001309857.1:p.Asn301Ile, NP_001309857.1:p.Asn301Ser, NP_001306064.1:p.Asn336Ile, NP_001306064.1:p.Asn336Ser, NP_001309861.1:p.Asn342Ile, NP_001309861.1:p.Asn342Ser, NP_001309859.1:p.Asn336Ile, NP_001309859.1:p.Asn336Ser, NP_001306063.1:p.Asn261Ile, NP_001306063.1:p.Asn261Ser, NP_001309856.1:p.Asn261Ile, NP_001309856.1:p.Asn261Ser, XP_006723928.1:p.Asn342Ile, XP_006723928.1:p.Asn342Ser, XP_016883517.1:p.Asn295Ile, XP_016883517.1:p.Asn295Ser, XP_047296377.1:p.Asn336Ile, XP_047296377.1:p.Asn336Ser, XP_047296373.1:p.Asn342Ile, XP_047296373.1:p.Asn342Ser, XP_047296378.1:p.Asn336Ile, XP_047296378.1:p.Asn336Ser, XP_047296379.1:p.Asn301Ile, XP_047296379.1:p.Asn301Ser, XP_047296371.1:p.Asn342Ile, XP_047296371.1:p.Asn342Ser, XP_047296374.1:p.Asn336Ile, XP_047296374.1:p.Asn336Ser, XP_047296370.1:p.Asn342Ile, XP_047296370.1:p.Asn342Ser, XP_047296375.1:p.Asn336Ile, XP_047296375.1:p.Asn336Ser, XP_005260584.1:p.Asn261Ile, XP_005260584.1:p.Asn261Ser, XP_047296380.1:p.Asn295Ile, XP_047296380.1:p.Asn295Ser, XP_047296372.1:p.Asn342Ile, XP_047296372.1:p.Asn342Ser, XP_047296376.1:p.Asn336Ile, XP_047296376.1:p.Asn336Ser

          5.

          rs1485965964 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            20:49135903 (GRCh38)
            20:47752440 (GRCh37)
            Canonical SPDI:
            NC_000020.11:49135902:T:C
            Gene:
            STAU1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.49135903T>C, NC_000020.10:g.47752440T>C, NG_029453.2:g.98393A>G, NM_017453.4:c.539A>G, NM_017453.3:c.539A>G, NM_017453.2:c.539A>G, NM_004602.4:c.296A>G, NM_004602.3:c.296A>G, NM_004602.2:c.296A>G, NM_017452.4:c.296A>G, NM_017452.3:c.296A>G, NM_017452.2:c.296A>G, NM_017454.4:c.296A>G, NM_017454.3:c.296A>G, NM_017454.2:c.296A>G, NM_001037328.3:c.296A>G, NM_001037328.2:c.296A>G, NM_001037328.1:c.296A>G, NM_001322929.2:c.539A>G, NM_001322929.1:c.539A>G, NM_001322931.2:c.416A>G, NM_001322931.1:c.416A>G, NM_001322933.2:c.539A>G, NM_001322933.1:c.539A>G, NM_001322928.2:c.416A>G, NM_001322928.1:c.416A>G, NM_001319135.2:c.539A>G, NM_001319135.1:c.539A>G, NM_001322932.2:c.539A>G, NM_001322932.1:c.539A>G, NM_001322930.2:c.539A>G, NM_001322930.1:c.539A>G, NM_001319134.2:c.296A>G, NM_001319134.1:c.296A>G, NM_001322927.2:c.296A>G, NM_001322927.1:c.296A>G, XM_006723865.2:c.539A>G, XM_006723865.1:c.539A>G, XM_017028028.2:c.416A>G, XM_017028028.1:c.416A>G, XM_047440421.1:c.539A>G, XM_047440417.1:c.539A>G, XM_047440422.1:c.539A>G, XM_047440423.1:c.416A>G, XM_047440415.1:c.539A>G, XM_047440418.1:c.539A>G, XM_047440414.1:c.539A>G, XM_047440419.1:c.539A>G, XM_005260527.1:c.296A>G, XM_047440424.1:c.416A>G, XM_047440416.1:c.539A>G, XM_047440420.1:c.539A>G, NP_059347.2:p.Asn180Ser, NP_004593.2:p.Asn99Ser, NP_059346.2:p.Asn99Ser, NP_059348.2:p.Asn99Ser, NP_001032405.1:p.Asn99Ser, NP_001309858.1:p.Asn180Ser, NP_001309860.1:p.Asn139Ser, NP_001309862.1:p.Asn180Ser, NP_001309857.1:p.Asn139Ser, NP_001306064.1:p.Asn180Ser, NP_001309861.1:p.Asn180Ser, NP_001309859.1:p.Asn180Ser, NP_001306063.1:p.Asn99Ser, NP_001309856.1:p.Asn99Ser, XP_006723928.1:p.Asn180Ser, XP_016883517.1:p.Asn139Ser, XP_047296377.1:p.Asn180Ser, XP_047296373.1:p.Asn180Ser, XP_047296378.1:p.Asn180Ser, XP_047296379.1:p.Asn139Ser, XP_047296371.1:p.Asn180Ser, XP_047296374.1:p.Asn180Ser, XP_047296370.1:p.Asn180Ser, XP_047296375.1:p.Asn180Ser, XP_005260584.1:p.Asn99Ser, XP_047296380.1:p.Asn139Ser, XP_047296372.1:p.Asn180Ser, XP_047296376.1:p.Asn180Ser

            6.

            rs1485698729 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              20:49151640 (GRCh38)
              20:47768177 (GRCh37)
              Canonical SPDI:
              NC_000020.11:49151639:T:A,NC_000020.11:49151639:T:C
              Gene:
              STAU1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000020.11:g.49151640T>A, NC_000020.11:g.49151640T>C, NC_000020.10:g.47768177T>A, NC_000020.10:g.47768177T>C, NG_029453.2:g.82656A>T, NG_029453.2:g.82656A>G, NM_017453.4:c.452A>T, NM_017453.4:c.452A>G, NM_017453.3:c.452A>T, NM_017453.3:c.452A>G, NM_017453.2:c.452A>T, NM_017453.2:c.452A>G, NM_004602.4:c.209A>T, NM_004602.4:c.209A>G, NM_004602.3:c.209A>T, NM_004602.3:c.209A>G, NM_004602.2:c.209A>T, NM_004602.2:c.209A>G, NM_017452.4:c.209A>T, NM_017452.4:c.209A>G, NM_017452.3:c.209A>T, NM_017452.3:c.209A>G, NM_017452.2:c.209A>T, NM_017452.2:c.209A>G, NM_017454.4:c.209A>T, NM_017454.4:c.209A>G, NM_017454.3:c.209A>T, NM_017454.3:c.209A>G, NM_017454.2:c.209A>T, NM_017454.2:c.209A>G, NM_001037328.3:c.209A>T, NM_001037328.3:c.209A>G, NM_001037328.2:c.209A>T, NM_001037328.2:c.209A>G, NM_001037328.1:c.209A>T, NM_001037328.1:c.209A>G, NM_001322929.2:c.452A>T, NM_001322929.2:c.452A>G, NM_001322929.1:c.452A>T, NM_001322929.1:c.452A>G, NM_001322931.2:c.329A>T, NM_001322931.2:c.329A>G, NM_001322931.1:c.329A>T, NM_001322931.1:c.329A>G, NM_001322933.2:c.452A>T, NM_001322933.2:c.452A>G, NM_001322933.1:c.452A>T, NM_001322933.1:c.452A>G, NM_001322928.2:c.329A>T, NM_001322928.2:c.329A>G, NM_001322928.1:c.329A>T, NM_001322928.1:c.329A>G, NM_001319135.2:c.452A>T, NM_001319135.2:c.452A>G, NM_001319135.1:c.452A>T, NM_001319135.1:c.452A>G, NM_001322932.2:c.452A>T, NM_001322932.2:c.452A>G, NM_001322932.1:c.452A>T, NM_001322932.1:c.452A>G, NM_001322930.2:c.452A>T, NM_001322930.2:c.452A>G, NM_001322930.1:c.452A>T, NM_001322930.1:c.452A>G, NM_001319134.2:c.209A>T, NM_001319134.2:c.209A>G, NM_001319134.1:c.209A>T, NM_001319134.1:c.209A>G, NM_001322927.2:c.209A>T, NM_001322927.2:c.209A>G, NM_001322927.1:c.209A>T, NM_001322927.1:c.209A>G, XM_006723865.2:c.452A>T, XM_006723865.2:c.452A>G, XM_006723865.1:c.452A>T, XM_006723865.1:c.452A>G, XM_017028028.2:c.329A>T, XM_017028028.2:c.329A>G, XM_017028028.1:c.329A>T, XM_017028028.1:c.329A>G, XM_047440421.1:c.452A>T, XM_047440421.1:c.452A>G, XM_047440417.1:c.452A>T, XM_047440417.1:c.452A>G, XM_047440422.1:c.452A>T, XM_047440422.1:c.452A>G, XM_047440423.1:c.329A>T, XM_047440423.1:c.329A>G, XM_047440415.1:c.452A>T, XM_047440415.1:c.452A>G, XM_047440418.1:c.452A>T, XM_047440418.1:c.452A>G, XM_047440414.1:c.452A>T, XM_047440414.1:c.452A>G, XM_047440419.1:c.452A>T, XM_047440419.1:c.452A>G, XM_005260527.1:c.209A>T, XM_005260527.1:c.209A>G, XM_047440424.1:c.329A>T, XM_047440424.1:c.329A>G, XM_047440416.1:c.452A>T, XM_047440416.1:c.452A>G, XM_047440420.1:c.452A>T, XM_047440420.1:c.452A>G, NP_059347.2:p.Asp151Val, NP_059347.2:p.Asp151Gly, NP_004593.2:p.Asp70Val, NP_004593.2:p.Asp70Gly, NP_059346.2:p.Asp70Val, NP_059346.2:p.Asp70Gly, NP_059348.2:p.Asp70Val, NP_059348.2:p.Asp70Gly, NP_001032405.1:p.Asp70Val, NP_001032405.1:p.Asp70Gly, NP_001309858.1:p.Asp151Val, NP_001309858.1:p.Asp151Gly, NP_001309860.1:p.Asp110Val, NP_001309860.1:p.Asp110Gly, NP_001309862.1:p.Asp151Val, NP_001309862.1:p.Asp151Gly, NP_001309857.1:p.Asp110Val, NP_001309857.1:p.Asp110Gly, NP_001306064.1:p.Asp151Val, NP_001306064.1:p.Asp151Gly, NP_001309861.1:p.Asp151Val, NP_001309861.1:p.Asp151Gly, NP_001309859.1:p.Asp151Val, NP_001309859.1:p.Asp151Gly, NP_001306063.1:p.Asp70Val, NP_001306063.1:p.Asp70Gly, NP_001309856.1:p.Asp70Val, NP_001309856.1:p.Asp70Gly, XP_006723928.1:p.Asp151Val, XP_006723928.1:p.Asp151Gly, XP_016883517.1:p.Asp110Val, XP_016883517.1:p.Asp110Gly, XP_047296377.1:p.Asp151Val, XP_047296377.1:p.Asp151Gly, XP_047296373.1:p.Asp151Val, XP_047296373.1:p.Asp151Gly, XP_047296378.1:p.Asp151Val, XP_047296378.1:p.Asp151Gly, XP_047296379.1:p.Asp110Val, XP_047296379.1:p.Asp110Gly, XP_047296371.1:p.Asp151Val, XP_047296371.1:p.Asp151Gly, XP_047296374.1:p.Asp151Val, XP_047296374.1:p.Asp151Gly, XP_047296370.1:p.Asp151Val, XP_047296370.1:p.Asp151Gly, XP_047296375.1:p.Asp151Val, XP_047296375.1:p.Asp151Gly, XP_005260584.1:p.Asp70Val, XP_005260584.1:p.Asp70Gly, XP_047296380.1:p.Asp110Val, XP_047296380.1:p.Asp110Gly, XP_047296372.1:p.Asp151Val, XP_047296372.1:p.Asp151Gly, XP_047296376.1:p.Asp151Val, XP_047296376.1:p.Asp151Gly

              7.

              rs1484572332 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                20:49117155 (GRCh38)
                20:47733692 (GRCh37)
                Canonical SPDI:
                NC_000020.11:49117154:C:T
                Gene:
                STAU1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000015/4 (TOPMED)
                T=0.000035/1 (TOMMO)
                HGVS:
                NC_000020.11:g.49117155C>T, NC_000020.10:g.47733692C>T, NG_029453.2:g.117141G>A, NM_017453.4:c.1603G>A, NM_017453.3:c.1603G>A, NM_017453.2:c.1603G>A, NM_004602.4:c.1360G>A, NM_004602.3:c.1360G>A, NM_004602.2:c.1360G>A, NM_017452.4:c.1360G>A, NM_017452.3:c.1360G>A, NM_017452.2:c.1360G>A, NM_017454.4:c.1360G>A, NM_017454.3:c.1360G>A, NM_017454.2:c.1360G>A, NM_001037328.3:c.1378G>A, NM_001037328.2:c.1378G>A, NM_001037328.1:c.1378G>A, NM_001322929.2:c.1603G>A, NM_001322929.1:c.1603G>A, NM_001322931.2:c.1480G>A, NM_001322931.1:c.1480G>A, NM_001322933.2:c.1621G>A, NM_001322933.1:c.1621G>A, NM_001322928.2:c.1498G>A, NM_001322928.1:c.1498G>A, NM_001319135.2:c.1603G>A, NM_001319135.1:c.1603G>A, NM_001322932.2:c.1621G>A, NM_001322932.1:c.1621G>A, NM_001322930.2:c.1603G>A, NM_001322930.1:c.1603G>A, NM_001319134.2:c.1378G>A, NM_001319134.1:c.1378G>A, NM_001322927.2:c.1378G>A, NM_001322927.1:c.1378G>A, XM_006723865.2:c.1621G>A, XM_006723865.1:c.1621G>A, XM_017028028.2:c.1480G>A, XM_017028028.1:c.1480G>A, XM_047440421.1:c.1603G>A, XM_047440417.1:c.1621G>A, XM_047440422.1:c.1603G>A, XM_047440423.1:c.1498G>A, XM_047440415.1:c.1621G>A, XM_047440418.1:c.1603G>A, XM_047440414.1:c.1621G>A, XM_047440419.1:c.1603G>A, XM_005260527.1:c.1378G>A, XM_047440424.1:c.1480G>A, XM_047440416.1:c.1621G>A, XM_047440420.1:c.1603G>A, NP_059347.2:p.Gly535Ser, NP_004593.2:p.Gly454Ser, NP_059346.2:p.Gly454Ser, NP_059348.2:p.Gly454Ser, NP_001032405.1:p.Gly460Ser, NP_001309858.1:p.Gly535Ser, NP_001309860.1:p.Gly494Ser, NP_001309862.1:p.Gly541Ser, NP_001309857.1:p.Gly500Ser, NP_001306064.1:p.Gly535Ser, NP_001309861.1:p.Gly541Ser, NP_001309859.1:p.Gly535Ser, NP_001306063.1:p.Gly460Ser, NP_001309856.1:p.Gly460Ser, XP_006723928.1:p.Gly541Ser, XP_016883517.1:p.Gly494Ser, XP_047296377.1:p.Gly535Ser, XP_047296373.1:p.Gly541Ser, XP_047296378.1:p.Gly535Ser, XP_047296379.1:p.Gly500Ser, XP_047296371.1:p.Gly541Ser, XP_047296374.1:p.Gly535Ser, XP_047296370.1:p.Gly541Ser, XP_047296375.1:p.Gly535Ser, XP_005260584.1:p.Gly460Ser, XP_047296380.1:p.Gly494Ser, XP_047296372.1:p.Gly541Ser, XP_047296376.1:p.Gly535Ser

                8.

                rs1484526754 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  20:49123205 (GRCh38)
                  20:47739742 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:49123204:T:A
                  Gene:
                  STAU1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000020.11:g.49123205T>A, NC_000020.10:g.47739742T>A, NG_029453.2:g.111091A>T, NM_017453.4:c.853A>T, NM_017453.3:c.853A>T, NM_017453.2:c.853A>T, NM_004602.4:c.610A>T, NM_004602.3:c.610A>T, NM_004602.2:c.610A>T, NM_017452.4:c.610A>T, NM_017452.3:c.610A>T, NM_017452.2:c.610A>T, NM_017454.4:c.610A>T, NM_017454.3:c.610A>T, NM_017454.2:c.610A>T, NM_001037328.3:c.628A>T, NM_001037328.2:c.628A>T, NM_001037328.1:c.628A>T, NM_001322929.2:c.853A>T, NM_001322929.1:c.853A>T, NM_001322931.2:c.730A>T, NM_001322931.1:c.730A>T, NM_001322933.2:c.871A>T, NM_001322933.1:c.871A>T, NM_001322928.2:c.748A>T, NM_001322928.1:c.748A>T, NM_001319135.2:c.853A>T, NM_001319135.1:c.853A>T, NM_001322932.2:c.871A>T, NM_001322932.1:c.871A>T, NM_001322930.2:c.853A>T, NM_001322930.1:c.853A>T, NM_001319134.2:c.628A>T, NM_001319134.1:c.628A>T, NM_001322927.2:c.628A>T, NM_001322927.1:c.628A>T, XM_006723865.2:c.871A>T, XM_006723865.1:c.871A>T, XM_017028028.2:c.730A>T, XM_017028028.1:c.730A>T, XM_047440421.1:c.853A>T, XM_047440417.1:c.871A>T, XM_047440422.1:c.853A>T, XM_047440423.1:c.748A>T, XM_047440415.1:c.871A>T, XM_047440418.1:c.853A>T, XM_047440414.1:c.871A>T, XM_047440419.1:c.853A>T, XM_005260527.1:c.628A>T, XM_047440424.1:c.730A>T, XM_047440416.1:c.871A>T, XM_047440420.1:c.853A>T, NP_059347.2:p.Ile285Phe, NP_004593.2:p.Ile204Phe, NP_059346.2:p.Ile204Phe, NP_059348.2:p.Ile204Phe, NP_001032405.1:p.Ile210Phe, NP_001309858.1:p.Ile285Phe, NP_001309860.1:p.Ile244Phe, NP_001309862.1:p.Ile291Phe, NP_001309857.1:p.Ile250Phe, NP_001306064.1:p.Ile285Phe, NP_001309861.1:p.Ile291Phe, NP_001309859.1:p.Ile285Phe, NP_001306063.1:p.Ile210Phe, NP_001309856.1:p.Ile210Phe, XP_006723928.1:p.Ile291Phe, XP_016883517.1:p.Ile244Phe, XP_047296377.1:p.Ile285Phe, XP_047296373.1:p.Ile291Phe, XP_047296378.1:p.Ile285Phe, XP_047296379.1:p.Ile250Phe, XP_047296371.1:p.Ile291Phe, XP_047296374.1:p.Ile285Phe, XP_047296370.1:p.Ile291Phe, XP_047296375.1:p.Ile285Phe, XP_005260584.1:p.Ile210Phe, XP_047296380.1:p.Ile244Phe, XP_047296372.1:p.Ile291Phe, XP_047296376.1:p.Ile285Phe

                  9.

                  rs1483582660 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    20:49166124 (GRCh38)
                    20:47782661 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:49166123:A:C
                    Gene:
                    STAU1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000008/2 (GnomAD_exomes)
                    C=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1481225253 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      20:49123116 (GRCh38)
                      20:47739653 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:49123115:C:G,NC_000020.11:49123115:C:T
                      Gene:
                      STAU1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      T=0.000016/4 (GnomAD_exomes)
                      G=0.000212/4 (TOMMO)
                      HGVS:
                      NC_000020.11:g.49123116C>G, NC_000020.11:g.49123116C>T, NC_000020.10:g.47739653C>G, NC_000020.10:g.47739653C>T, NG_029453.2:g.111180G>C, NG_029453.2:g.111180G>A, NM_017453.4:c.942G>C, NM_017453.4:c.942G>A, NM_017453.3:c.942G>C, NM_017453.3:c.942G>A, NM_017453.2:c.942G>C, NM_017453.2:c.942G>A, NM_004602.4:c.699G>C, NM_004602.4:c.699G>A, NM_004602.3:c.699G>C, NM_004602.3:c.699G>A, NM_004602.2:c.699G>C, NM_004602.2:c.699G>A, NM_017452.4:c.699G>C, NM_017452.4:c.699G>A, NM_017452.3:c.699G>C, NM_017452.3:c.699G>A, NM_017452.2:c.699G>C, NM_017452.2:c.699G>A, NM_017454.4:c.699G>C, NM_017454.4:c.699G>A, NM_017454.3:c.699G>C, NM_017454.3:c.699G>A, NM_017454.2:c.699G>C, NM_017454.2:c.699G>A, NM_001037328.3:c.717G>C, NM_001037328.3:c.717G>A, NM_001037328.2:c.717G>C, NM_001037328.2:c.717G>A, NM_001037328.1:c.717G>C, NM_001037328.1:c.717G>A, NM_001322929.2:c.942G>C, NM_001322929.2:c.942G>A, NM_001322929.1:c.942G>C, NM_001322929.1:c.942G>A, NM_001322931.2:c.819G>C, NM_001322931.2:c.819G>A, NM_001322931.1:c.819G>C, NM_001322931.1:c.819G>A, NM_001322933.2:c.960G>C, NM_001322933.2:c.960G>A, NM_001322933.1:c.960G>C, NM_001322933.1:c.960G>A, NM_001322928.2:c.837G>C, NM_001322928.2:c.837G>A, NM_001322928.1:c.837G>C, NM_001322928.1:c.837G>A, NM_001319135.2:c.942G>C, NM_001319135.2:c.942G>A, NM_001319135.1:c.942G>C, NM_001319135.1:c.942G>A, NM_001322932.2:c.960G>C, NM_001322932.2:c.960G>A, NM_001322932.1:c.960G>C, NM_001322932.1:c.960G>A, NM_001322930.2:c.942G>C, NM_001322930.2:c.942G>A, NM_001322930.1:c.942G>C, NM_001322930.1:c.942G>A, NM_001319134.2:c.717G>C, NM_001319134.2:c.717G>A, NM_001319134.1:c.717G>C, NM_001319134.1:c.717G>A, NM_001322927.2:c.717G>C, NM_001322927.2:c.717G>A, NM_001322927.1:c.717G>C, NM_001322927.1:c.717G>A, XM_006723865.2:c.960G>C, XM_006723865.2:c.960G>A, XM_006723865.1:c.960G>C, XM_006723865.1:c.960G>A, XM_017028028.2:c.819G>C, XM_017028028.2:c.819G>A, XM_017028028.1:c.819G>C, XM_017028028.1:c.819G>A, XM_047440421.1:c.942G>C, XM_047440421.1:c.942G>A, XM_047440417.1:c.960G>C, XM_047440417.1:c.960G>A, XM_047440422.1:c.942G>C, XM_047440422.1:c.942G>A, XM_047440423.1:c.837G>C, XM_047440423.1:c.837G>A, XM_047440415.1:c.960G>C, XM_047440415.1:c.960G>A, XM_047440418.1:c.942G>C, XM_047440418.1:c.942G>A, XM_047440414.1:c.960G>C, XM_047440414.1:c.960G>A, XM_047440419.1:c.942G>C, XM_047440419.1:c.942G>A, XM_005260527.1:c.717G>C, XM_005260527.1:c.717G>A, XM_047440424.1:c.819G>C, XM_047440424.1:c.819G>A, XM_047440416.1:c.960G>C, XM_047440416.1:c.960G>A, XM_047440420.1:c.942G>C, XM_047440420.1:c.942G>A

                      11.

                      rs1480210963 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        20:49117992 (GRCh38)
                        20:47734529 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:49117991:G:C
                        Gene:
                        STAU1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000111/1 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000020.11:g.49117992G>C, NC_000020.10:g.47734529G>C, NG_029453.2:g.116304C>G, NM_017453.4:c.1294C>G, NM_017453.3:c.1294C>G, NM_017453.2:c.1294C>G, NM_004602.4:c.1051C>G, NM_004602.3:c.1051C>G, NM_004602.2:c.1051C>G, NM_017452.4:c.1051C>G, NM_017452.3:c.1051C>G, NM_017452.2:c.1051C>G, NM_017454.4:c.1051C>G, NM_017454.3:c.1051C>G, NM_017454.2:c.1051C>G, NM_001037328.3:c.1069C>G, NM_001037328.2:c.1069C>G, NM_001037328.1:c.1069C>G, NM_001322929.2:c.1294C>G, NM_001322929.1:c.1294C>G, NM_001322931.2:c.1171C>G, NM_001322931.1:c.1171C>G, NM_001322933.2:c.1312C>G, NM_001322933.1:c.1312C>G, NM_001322928.2:c.1189C>G, NM_001322928.1:c.1189C>G, NM_001319135.2:c.1294C>G, NM_001319135.1:c.1294C>G, NM_001322932.2:c.1312C>G, NM_001322932.1:c.1312C>G, NM_001322930.2:c.1294C>G, NM_001322930.1:c.1294C>G, NM_001319134.2:c.1069C>G, NM_001319134.1:c.1069C>G, NM_001322927.2:c.1069C>G, NM_001322927.1:c.1069C>G, XM_006723865.2:c.1312C>G, XM_006723865.1:c.1312C>G, XM_017028028.2:c.1171C>G, XM_017028028.1:c.1171C>G, XM_047440421.1:c.1294C>G, XM_047440417.1:c.1312C>G, XM_047440422.1:c.1294C>G, XM_047440423.1:c.1189C>G, XM_047440415.1:c.1312C>G, XM_047440418.1:c.1294C>G, XM_047440414.1:c.1312C>G, XM_047440419.1:c.1294C>G, XM_005260527.1:c.1069C>G, XM_047440424.1:c.1171C>G, XM_047440416.1:c.1312C>G, XM_047440420.1:c.1294C>G, NP_059347.2:p.Gln432Glu, NP_004593.2:p.Gln351Glu, NP_059346.2:p.Gln351Glu, NP_059348.2:p.Gln351Glu, NP_001032405.1:p.Gln357Glu, NP_001309858.1:p.Gln432Glu, NP_001309860.1:p.Gln391Glu, NP_001309862.1:p.Gln438Glu, NP_001309857.1:p.Gln397Glu, NP_001306064.1:p.Gln432Glu, NP_001309861.1:p.Gln438Glu, NP_001309859.1:p.Gln432Glu, NP_001306063.1:p.Gln357Glu, NP_001309856.1:p.Gln357Glu, XP_006723928.1:p.Gln438Glu, XP_016883517.1:p.Gln391Glu, XP_047296377.1:p.Gln432Glu, XP_047296373.1:p.Gln438Glu, XP_047296378.1:p.Gln432Glu, XP_047296379.1:p.Gln397Glu, XP_047296371.1:p.Gln438Glu, XP_047296374.1:p.Gln432Glu, XP_047296370.1:p.Gln438Glu, XP_047296375.1:p.Gln432Glu, XP_005260584.1:p.Gln357Glu, XP_047296380.1:p.Gln391Glu, XP_047296372.1:p.Gln438Glu, XP_047296376.1:p.Gln432Glu

                        12.

                        rs1477921648 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          20:49120007 (GRCh38)
                          20:47736544 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:49120006:T:C
                          Gene:
                          STAU1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000020.11:g.49120007T>C, NC_000020.10:g.47736544T>C, NG_029453.2:g.114289A>G, NM_017453.4:c.1088A>G, NM_017453.3:c.1088A>G, NM_017453.2:c.1088A>G, NM_004602.4:c.845A>G, NM_004602.3:c.845A>G, NM_004602.2:c.845A>G, NM_017452.4:c.845A>G, NM_017452.3:c.845A>G, NM_017452.2:c.845A>G, NM_017454.4:c.845A>G, NM_017454.3:c.845A>G, NM_017454.2:c.845A>G, NM_001037328.3:c.863A>G, NM_001037328.2:c.863A>G, NM_001037328.1:c.863A>G, NM_001322929.2:c.1088A>G, NM_001322929.1:c.1088A>G, NM_001322931.2:c.965A>G, NM_001322931.1:c.965A>G, NM_001322933.2:c.1106A>G, NM_001322933.1:c.1106A>G, NM_001322928.2:c.983A>G, NM_001322928.1:c.983A>G, NM_001319135.2:c.1088A>G, NM_001319135.1:c.1088A>G, NM_001322932.2:c.1106A>G, NM_001322932.1:c.1106A>G, NM_001322930.2:c.1088A>G, NM_001322930.1:c.1088A>G, NM_001319134.2:c.863A>G, NM_001319134.1:c.863A>G, NM_001322927.2:c.863A>G, NM_001322927.1:c.863A>G, XM_006723865.2:c.1106A>G, XM_006723865.1:c.1106A>G, XM_017028028.2:c.965A>G, XM_017028028.1:c.965A>G, XM_047440421.1:c.1088A>G, XM_047440417.1:c.1106A>G, XM_047440422.1:c.1088A>G, XM_047440423.1:c.983A>G, XM_047440415.1:c.1106A>G, XM_047440418.1:c.1088A>G, XM_047440414.1:c.1106A>G, XM_047440419.1:c.1088A>G, XM_005260527.1:c.863A>G, XM_047440424.1:c.965A>G, XM_047440416.1:c.1106A>G, XM_047440420.1:c.1088A>G, NP_059347.2:p.Lys363Arg, NP_004593.2:p.Lys282Arg, NP_059346.2:p.Lys282Arg, NP_059348.2:p.Lys282Arg, NP_001032405.1:p.Lys288Arg, NP_001309858.1:p.Lys363Arg, NP_001309860.1:p.Lys322Arg, NP_001309862.1:p.Lys369Arg, NP_001309857.1:p.Lys328Arg, NP_001306064.1:p.Lys363Arg, NP_001309861.1:p.Lys369Arg, NP_001309859.1:p.Lys363Arg, NP_001306063.1:p.Lys288Arg, NP_001309856.1:p.Lys288Arg, XP_006723928.1:p.Lys369Arg, XP_016883517.1:p.Lys322Arg, XP_047296377.1:p.Lys363Arg, XP_047296373.1:p.Lys369Arg, XP_047296378.1:p.Lys363Arg, XP_047296379.1:p.Lys328Arg, XP_047296371.1:p.Lys369Arg, XP_047296374.1:p.Lys363Arg, XP_047296370.1:p.Lys369Arg, XP_047296375.1:p.Lys363Arg, XP_005260584.1:p.Lys288Arg, XP_047296380.1:p.Lys322Arg, XP_047296372.1:p.Lys369Arg, XP_047296376.1:p.Lys363Arg

                          13.

                          rs1477446264 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GAGAG>- [Show Flanks]
                            Chromosome:
                            20:49166157 (GRCh38)
                            20:47782694 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:49166156:GAGAG:
                            Gene:
                            STAU1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.000224/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000223/1 (Estonian)
                            HGVS:
                            NC_000020.11:g.49166157_49166161del, NC_000020.10:g.47782694_47782698del, NG_029453.2:g.68135_68139del, NM_017453.4:c.41_45del, NM_017453.3:c.41_45del, NM_017453.2:c.41_45del, NM_001322929.2:c.41_45del, NM_001322929.1:c.41_45del, NM_001322933.2:c.41_45del, NM_001322933.1:c.41_45del, NM_001319135.2:c.41_45del, NM_001319135.1:c.41_45del, NM_001322932.2:c.41_45del, NM_001322932.1:c.41_45del, NM_001322930.2:c.41_45del, NM_001322930.1:c.41_45del, XM_006723865.2:c.41_45del, XM_006723865.1:c.41_45del, XM_047440421.1:c.41_45del, XM_047440417.1:c.41_45del, XM_047440422.1:c.41_45del, XM_047440415.1:c.41_45del, XM_047440418.1:c.41_45del, XM_047440414.1:c.41_45del, XM_047440419.1:c.41_45del, XM_047440416.1:c.41_45del, XM_047440420.1:c.41_45del, NP_059347.2:p.Ala14fs, NP_001309858.1:p.Ala14fs, NP_001309862.1:p.Ala14fs, NP_001306064.1:p.Ala14fs, NP_001309861.1:p.Ala14fs, NP_001309859.1:p.Ala14fs, XP_006723928.1:p.Ala14fs, XP_047296377.1:p.Ala14fs, XP_047296373.1:p.Ala14fs, XP_047296378.1:p.Ala14fs, XP_047296371.1:p.Ala14fs, XP_047296374.1:p.Ala14fs, XP_047296370.1:p.Ala14fs, XP_047296375.1:p.Ala14fs, XP_047296372.1:p.Ala14fs, XP_047296376.1:p.Ala14fs

                            14.

                            rs1474952215 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              20:49124444 (GRCh38)
                              20:47740981 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:49124443:C:T
                              Gene:
                              STAU1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000020.11:g.49124444C>T, NC_000020.10:g.47740981C>T, NG_029453.2:g.109852G>A, NM_017453.4:c.753G>A, NM_017453.3:c.753G>A, NM_017453.2:c.753G>A, NM_004602.4:c.510G>A, NM_004602.3:c.510G>A, NM_004602.2:c.510G>A, NM_017452.4:c.510G>A, NM_017452.3:c.510G>A, NM_017452.2:c.510G>A, NM_017454.4:c.510G>A, NM_017454.3:c.510G>A, NM_017454.2:c.510G>A, NM_001037328.3:c.528G>A, NM_001037328.2:c.528G>A, NM_001037328.1:c.528G>A, NM_001322929.2:c.753G>A, NM_001322929.1:c.753G>A, NM_001322931.2:c.630G>A, NM_001322931.1:c.630G>A, NM_001322933.2:c.771G>A, NM_001322933.1:c.771G>A, NM_001322928.2:c.648G>A, NM_001322928.1:c.648G>A, NM_001319135.2:c.753G>A, NM_001319135.1:c.753G>A, NM_001322932.2:c.771G>A, NM_001322932.1:c.771G>A, NM_001322930.2:c.753G>A, NM_001322930.1:c.753G>A, NM_001319134.2:c.528G>A, NM_001319134.1:c.528G>A, NM_001322927.2:c.528G>A, NM_001322927.1:c.528G>A, XM_006723865.2:c.771G>A, XM_006723865.1:c.771G>A, XM_017028028.2:c.630G>A, XM_017028028.1:c.630G>A, XM_047440421.1:c.753G>A, XM_047440417.1:c.771G>A, XM_047440422.1:c.753G>A, XM_047440423.1:c.648G>A, XM_047440415.1:c.771G>A, XM_047440418.1:c.753G>A, XM_047440414.1:c.771G>A, XM_047440419.1:c.753G>A, XM_005260527.1:c.528G>A, XM_047440424.1:c.630G>A, XM_047440416.1:c.771G>A, XM_047440420.1:c.753G>A

                              15.

                              rs1474237438 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                20:49123185 (GRCh38)
                                20:47739722 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:49123184:C:A
                                Gene:
                                STAU1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                HGVS:
                                NC_000020.11:g.49123185C>A, NC_000020.10:g.47739722C>A, NG_029453.2:g.111111G>T, NM_017453.4:c.873G>T, NM_017453.3:c.873G>T, NM_017453.2:c.873G>T, NM_004602.4:c.630G>T, NM_004602.3:c.630G>T, NM_004602.2:c.630G>T, NM_017452.4:c.630G>T, NM_017452.3:c.630G>T, NM_017452.2:c.630G>T, NM_017454.4:c.630G>T, NM_017454.3:c.630G>T, NM_017454.2:c.630G>T, NM_001037328.3:c.648G>T, NM_001037328.2:c.648G>T, NM_001037328.1:c.648G>T, NM_001322929.2:c.873G>T, NM_001322929.1:c.873G>T, NM_001322931.2:c.750G>T, NM_001322931.1:c.750G>T, NM_001322933.2:c.891G>T, NM_001322933.1:c.891G>T, NM_001322928.2:c.768G>T, NM_001322928.1:c.768G>T, NM_001319135.2:c.873G>T, NM_001319135.1:c.873G>T, NM_001322932.2:c.891G>T, NM_001322932.1:c.891G>T, NM_001322930.2:c.873G>T, NM_001322930.1:c.873G>T, NM_001319134.2:c.648G>T, NM_001319134.1:c.648G>T, NM_001322927.2:c.648G>T, NM_001322927.1:c.648G>T, XM_006723865.2:c.891G>T, XM_006723865.1:c.891G>T, XM_017028028.2:c.750G>T, XM_017028028.1:c.750G>T, XM_047440421.1:c.873G>T, XM_047440417.1:c.891G>T, XM_047440422.1:c.873G>T, XM_047440423.1:c.768G>T, XM_047440415.1:c.891G>T, XM_047440418.1:c.873G>T, XM_047440414.1:c.891G>T, XM_047440419.1:c.873G>T, XM_005260527.1:c.648G>T, XM_047440424.1:c.750G>T, XM_047440416.1:c.891G>T, XM_047440420.1:c.873G>T

                                16.

                                rs1474085466 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  20:49117802 (GRCh38)
                                  20:47734339 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:49117801:T:C
                                  Gene:
                                  STAU1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000020.11:g.49117802T>C, NC_000020.10:g.47734339T>C, NG_029453.2:g.116494A>G, NM_017453.4:c.1484A>G, NM_017453.3:c.1484A>G, NM_017453.2:c.1484A>G, NM_004602.4:c.1241A>G, NM_004602.3:c.1241A>G, NM_004602.2:c.1241A>G, NM_017452.4:c.1241A>G, NM_017452.3:c.1241A>G, NM_017452.2:c.1241A>G, NM_017454.4:c.1241A>G, NM_017454.3:c.1241A>G, NM_017454.2:c.1241A>G, NM_001037328.3:c.1259A>G, NM_001037328.2:c.1259A>G, NM_001037328.1:c.1259A>G, NM_001322929.2:c.1484A>G, NM_001322929.1:c.1484A>G, NM_001322931.2:c.1361A>G, NM_001322931.1:c.1361A>G, NM_001322933.2:c.1502A>G, NM_001322933.1:c.1502A>G, NM_001322928.2:c.1379A>G, NM_001322928.1:c.1379A>G, NM_001319135.2:c.1484A>G, NM_001319135.1:c.1484A>G, NM_001322932.2:c.1502A>G, NM_001322932.1:c.1502A>G, NM_001322930.2:c.1484A>G, NM_001322930.1:c.1484A>G, NM_001319134.2:c.1259A>G, NM_001319134.1:c.1259A>G, NM_001322927.2:c.1259A>G, NM_001322927.1:c.1259A>G, XM_006723865.2:c.1502A>G, XM_006723865.1:c.1502A>G, XM_017028028.2:c.1361A>G, XM_017028028.1:c.1361A>G, XM_047440421.1:c.1484A>G, XM_047440417.1:c.1502A>G, XM_047440422.1:c.1484A>G, XM_047440423.1:c.1379A>G, XM_047440415.1:c.1502A>G, XM_047440418.1:c.1484A>G, XM_047440414.1:c.1502A>G, XM_047440419.1:c.1484A>G, XM_005260527.1:c.1259A>G, XM_047440424.1:c.1361A>G, XM_047440416.1:c.1502A>G, XM_047440420.1:c.1484A>G, NP_059347.2:p.Tyr495Cys, NP_004593.2:p.Tyr414Cys, NP_059346.2:p.Tyr414Cys, NP_059348.2:p.Tyr414Cys, NP_001032405.1:p.Tyr420Cys, NP_001309858.1:p.Tyr495Cys, NP_001309860.1:p.Tyr454Cys, NP_001309862.1:p.Tyr501Cys, NP_001309857.1:p.Tyr460Cys, NP_001306064.1:p.Tyr495Cys, NP_001309861.1:p.Tyr501Cys, NP_001309859.1:p.Tyr495Cys, NP_001306063.1:p.Tyr420Cys, NP_001309856.1:p.Tyr420Cys, XP_006723928.1:p.Tyr501Cys, XP_016883517.1:p.Tyr454Cys, XP_047296377.1:p.Tyr495Cys, XP_047296373.1:p.Tyr501Cys, XP_047296378.1:p.Tyr495Cys, XP_047296379.1:p.Tyr460Cys, XP_047296371.1:p.Tyr501Cys, XP_047296374.1:p.Tyr495Cys, XP_047296370.1:p.Tyr501Cys, XP_047296375.1:p.Tyr495Cys, XP_005260584.1:p.Tyr420Cys, XP_047296380.1:p.Tyr454Cys, XP_047296372.1:p.Tyr501Cys, XP_047296376.1:p.Tyr495Cys

                                  17.

                                  rs1471770368 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:49118393 (GRCh38)
                                    20:47734930 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:49118392:G:A
                                    Gene:
                                    STAU1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.49118393G>A, NC_000020.10:g.47734930G>A, NG_029453.2:g.115903C>T, NM_017453.4:c.1129C>T, NM_017453.3:c.1129C>T, NM_017453.2:c.1129C>T, NM_004602.4:c.886C>T, NM_004602.3:c.886C>T, NM_004602.2:c.886C>T, NM_017452.4:c.886C>T, NM_017452.3:c.886C>T, NM_017452.2:c.886C>T, NM_017454.4:c.886C>T, NM_017454.3:c.886C>T, NM_017454.2:c.886C>T, NM_001037328.3:c.904C>T, NM_001037328.2:c.904C>T, NM_001037328.1:c.904C>T, NM_001322929.2:c.1129C>T, NM_001322929.1:c.1129C>T, NM_001322931.2:c.1006C>T, NM_001322931.1:c.1006C>T, NM_001322933.2:c.1147C>T, NM_001322933.1:c.1147C>T, NM_001322928.2:c.1024C>T, NM_001322928.1:c.1024C>T, NM_001319135.2:c.1129C>T, NM_001319135.1:c.1129C>T, NM_001322932.2:c.1147C>T, NM_001322932.1:c.1147C>T, NM_001322930.2:c.1129C>T, NM_001322930.1:c.1129C>T, NM_001319134.2:c.904C>T, NM_001319134.1:c.904C>T, NM_001322927.2:c.904C>T, NM_001322927.1:c.904C>T, XM_006723865.2:c.1147C>T, XM_006723865.1:c.1147C>T, XM_017028028.2:c.1006C>T, XM_017028028.1:c.1006C>T, XM_047440421.1:c.1129C>T, XM_047440417.1:c.1147C>T, XM_047440422.1:c.1129C>T, XM_047440423.1:c.1024C>T, XM_047440415.1:c.1147C>T, XM_047440418.1:c.1129C>T, XM_047440414.1:c.1147C>T, XM_047440419.1:c.1129C>T, XM_005260527.1:c.904C>T, XM_047440424.1:c.1006C>T, XM_047440416.1:c.1147C>T, XM_047440420.1:c.1129C>T, NP_059347.2:p.Pro377Ser, NP_004593.2:p.Pro296Ser, NP_059346.2:p.Pro296Ser, NP_059348.2:p.Pro296Ser, NP_001032405.1:p.Pro302Ser, NP_001309858.1:p.Pro377Ser, NP_001309860.1:p.Pro336Ser, NP_001309862.1:p.Pro383Ser, NP_001309857.1:p.Pro342Ser, NP_001306064.1:p.Pro377Ser, NP_001309861.1:p.Pro383Ser, NP_001309859.1:p.Pro377Ser, NP_001306063.1:p.Pro302Ser, NP_001309856.1:p.Pro302Ser, XP_006723928.1:p.Pro383Ser, XP_016883517.1:p.Pro336Ser, XP_047296377.1:p.Pro377Ser, XP_047296373.1:p.Pro383Ser, XP_047296378.1:p.Pro377Ser, XP_047296379.1:p.Pro342Ser, XP_047296371.1:p.Pro383Ser, XP_047296374.1:p.Pro377Ser, XP_047296370.1:p.Pro383Ser, XP_047296375.1:p.Pro377Ser, XP_005260584.1:p.Pro302Ser, XP_047296380.1:p.Pro336Ser, XP_047296372.1:p.Pro383Ser, XP_047296376.1:p.Pro377Ser

                                    18.

                                    rs1471348384 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      20:49123109 (GRCh38)
                                      20:47739646 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:49123108:T:A,NC_000020.11:49123108:T:C
                                      Gene:
                                      STAU1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      NC_000020.11:g.49123109T>A, NC_000020.11:g.49123109T>C, NC_000020.10:g.47739646T>A, NC_000020.10:g.47739646T>C, NG_029453.2:g.111187A>T, NG_029453.2:g.111187A>G, NM_017453.4:c.949A>T, NM_017453.4:c.949A>G, NM_017453.3:c.949A>T, NM_017453.3:c.949A>G, NM_017453.2:c.949A>T, NM_017453.2:c.949A>G, NM_004602.4:c.706A>T, NM_004602.4:c.706A>G, NM_004602.3:c.706A>T, NM_004602.3:c.706A>G, NM_004602.2:c.706A>T, NM_004602.2:c.706A>G, NM_017452.4:c.706A>T, NM_017452.4:c.706A>G, NM_017452.3:c.706A>T, NM_017452.3:c.706A>G, NM_017452.2:c.706A>T, NM_017452.2:c.706A>G, NM_017454.4:c.706A>T, NM_017454.4:c.706A>G, NM_017454.3:c.706A>T, NM_017454.3:c.706A>G, NM_017454.2:c.706A>T, NM_017454.2:c.706A>G, NM_001037328.3:c.724A>T, NM_001037328.3:c.724A>G, NM_001037328.2:c.724A>T, NM_001037328.2:c.724A>G, NM_001037328.1:c.724A>T, NM_001037328.1:c.724A>G, NM_001322929.2:c.949A>T, NM_001322929.2:c.949A>G, NM_001322929.1:c.949A>T, NM_001322929.1:c.949A>G, NM_001322931.2:c.826A>T, NM_001322931.2:c.826A>G, NM_001322931.1:c.826A>T, NM_001322931.1:c.826A>G, NM_001322933.2:c.967A>T, NM_001322933.2:c.967A>G, NM_001322933.1:c.967A>T, NM_001322933.1:c.967A>G, NM_001322928.2:c.844A>T, NM_001322928.2:c.844A>G, NM_001322928.1:c.844A>T, NM_001322928.1:c.844A>G, NM_001319135.2:c.949A>T, NM_001319135.2:c.949A>G, NM_001319135.1:c.949A>T, NM_001319135.1:c.949A>G, NM_001322932.2:c.967A>T, NM_001322932.2:c.967A>G, NM_001322932.1:c.967A>T, NM_001322932.1:c.967A>G, NM_001322930.2:c.949A>T, NM_001322930.2:c.949A>G, NM_001322930.1:c.949A>T, NM_001322930.1:c.949A>G, NM_001319134.2:c.724A>T, NM_001319134.2:c.724A>G, NM_001319134.1:c.724A>T, NM_001319134.1:c.724A>G, NM_001322927.2:c.724A>T, NM_001322927.2:c.724A>G, NM_001322927.1:c.724A>T, NM_001322927.1:c.724A>G, XM_006723865.2:c.967A>T, XM_006723865.2:c.967A>G, XM_006723865.1:c.967A>T, XM_006723865.1:c.967A>G, XM_017028028.2:c.826A>T, XM_017028028.2:c.826A>G, XM_017028028.1:c.826A>T, XM_017028028.1:c.826A>G, XM_047440421.1:c.949A>T, XM_047440421.1:c.949A>G, XM_047440417.1:c.967A>T, XM_047440417.1:c.967A>G, XM_047440422.1:c.949A>T, XM_047440422.1:c.949A>G, XM_047440423.1:c.844A>T, XM_047440423.1:c.844A>G, XM_047440415.1:c.967A>T, XM_047440415.1:c.967A>G, XM_047440418.1:c.949A>T, XM_047440418.1:c.949A>G, XM_047440414.1:c.967A>T, XM_047440414.1:c.967A>G, XM_047440419.1:c.949A>T, XM_047440419.1:c.949A>G, XM_005260527.1:c.724A>T, XM_005260527.1:c.724A>G, XM_047440424.1:c.826A>T, XM_047440424.1:c.826A>G, XM_047440416.1:c.967A>T, XM_047440416.1:c.967A>G, XM_047440420.1:c.949A>T, XM_047440420.1:c.949A>G, NP_059347.2:p.Arg317Trp, NP_059347.2:p.Arg317Gly, NP_004593.2:p.Arg236Trp, NP_004593.2:p.Arg236Gly, NP_059346.2:p.Arg236Trp, NP_059346.2:p.Arg236Gly, NP_059348.2:p.Arg236Trp, NP_059348.2:p.Arg236Gly, NP_001032405.1:p.Arg242Trp, NP_001032405.1:p.Arg242Gly, NP_001309858.1:p.Arg317Trp, NP_001309858.1:p.Arg317Gly, NP_001309860.1:p.Arg276Trp, NP_001309860.1:p.Arg276Gly, NP_001309862.1:p.Arg323Trp, NP_001309862.1:p.Arg323Gly, NP_001309857.1:p.Arg282Trp, NP_001309857.1:p.Arg282Gly, NP_001306064.1:p.Arg317Trp, NP_001306064.1:p.Arg317Gly, NP_001309861.1:p.Arg323Trp, NP_001309861.1:p.Arg323Gly, NP_001309859.1:p.Arg317Trp, NP_001309859.1:p.Arg317Gly, NP_001306063.1:p.Arg242Trp, NP_001306063.1:p.Arg242Gly, NP_001309856.1:p.Arg242Trp, NP_001309856.1:p.Arg242Gly, XP_006723928.1:p.Arg323Trp, XP_006723928.1:p.Arg323Gly, XP_016883517.1:p.Arg276Trp, XP_016883517.1:p.Arg276Gly, XP_047296377.1:p.Arg317Trp, XP_047296377.1:p.Arg317Gly, XP_047296373.1:p.Arg323Trp, XP_047296373.1:p.Arg323Gly, XP_047296378.1:p.Arg317Trp, XP_047296378.1:p.Arg317Gly, XP_047296379.1:p.Arg282Trp, XP_047296379.1:p.Arg282Gly, XP_047296371.1:p.Arg323Trp, XP_047296371.1:p.Arg323Gly, XP_047296374.1:p.Arg317Trp, XP_047296374.1:p.Arg317Gly, XP_047296370.1:p.Arg323Trp, XP_047296370.1:p.Arg323Gly, XP_047296375.1:p.Arg317Trp, XP_047296375.1:p.Arg317Gly, XP_005260584.1:p.Arg242Trp, XP_005260584.1:p.Arg242Gly, XP_047296380.1:p.Arg276Trp, XP_047296380.1:p.Arg276Gly, XP_047296372.1:p.Arg323Trp, XP_047296372.1:p.Arg323Gly, XP_047296376.1:p.Arg317Trp, XP_047296376.1:p.Arg317Gly

                                      19.

                                      rs1471035353 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        20:49154026 (GRCh38)
                                        20:47770563 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:49154025:A:C
                                        Gene:
                                        STAU1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000020.11:g.49154026A>C, NC_000020.10:g.47770563A>C, NG_029453.2:g.80270T>G, NM_017453.4:c.251T>G, NM_017453.3:c.251T>G, NM_017453.2:c.251T>G, NM_004602.4:c.8T>G, NM_004602.3:c.8T>G, NM_004602.2:c.8T>G, NM_017452.4:c.8T>G, NM_017452.3:c.8T>G, NM_017452.2:c.8T>G, NM_017454.4:c.8T>G, NM_017454.3:c.8T>G, NM_017454.2:c.8T>G, NM_001037328.3:c.8T>G, NM_001037328.2:c.8T>G, NM_001037328.1:c.8T>G, NM_001322929.2:c.251T>G, NM_001322929.1:c.251T>G, NM_001322931.2:c.128T>G, NM_001322931.1:c.128T>G, NM_001322933.2:c.251T>G, NM_001322933.1:c.251T>G, NM_001322928.2:c.128T>G, NM_001322928.1:c.128T>G, NM_001319135.2:c.251T>G, NM_001319135.1:c.251T>G, NM_001322932.2:c.251T>G, NM_001322932.1:c.251T>G, NM_001322930.2:c.251T>G, NM_001322930.1:c.251T>G, NM_001319134.2:c.8T>G, NM_001319134.1:c.8T>G, NM_001322927.2:c.8T>G, NM_001322927.1:c.8T>G, XM_006723865.2:c.251T>G, XM_006723865.1:c.251T>G, XM_017028028.2:c.128T>G, XM_017028028.1:c.128T>G, XM_047440421.1:c.251T>G, XM_047440417.1:c.251T>G, XM_047440422.1:c.251T>G, XM_047440423.1:c.128T>G, XM_047440415.1:c.251T>G, XM_047440418.1:c.251T>G, XM_047440414.1:c.251T>G, XM_047440419.1:c.251T>G, XM_005260527.1:c.8T>G, XM_047440424.1:c.128T>G, XM_047440416.1:c.251T>G, XM_047440420.1:c.251T>G, NP_059347.2:p.Leu84Arg, NP_004593.2:p.Leu3Arg, NP_059346.2:p.Leu3Arg, NP_059348.2:p.Leu3Arg, NP_001032405.1:p.Leu3Arg, NP_001309858.1:p.Leu84Arg, NP_001309860.1:p.Leu43Arg, NP_001309862.1:p.Leu84Arg, NP_001309857.1:p.Leu43Arg, NP_001306064.1:p.Leu84Arg, NP_001309861.1:p.Leu84Arg, NP_001309859.1:p.Leu84Arg, NP_001306063.1:p.Leu3Arg, NP_001309856.1:p.Leu3Arg, XP_006723928.1:p.Leu84Arg, XP_016883517.1:p.Leu43Arg, XP_047296377.1:p.Leu84Arg, XP_047296373.1:p.Leu84Arg, XP_047296378.1:p.Leu84Arg, XP_047296379.1:p.Leu43Arg, XP_047296371.1:p.Leu84Arg, XP_047296374.1:p.Leu84Arg, XP_047296370.1:p.Leu84Arg, XP_047296375.1:p.Leu84Arg, XP_005260584.1:p.Leu3Arg, XP_047296380.1:p.Leu43Arg, XP_047296372.1:p.Leu84Arg, XP_047296376.1:p.Leu84Arg

                                        20.

                                        rs1468998197 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:49154012 (GRCh38)
                                          20:47770549 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:49154011:T:C
                                          Gene:
                                          STAU1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000012/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000020.11:g.49154012T>C, NC_000020.10:g.47770549T>C, NG_029453.2:g.80284A>G, NM_017453.4:c.265A>G, NM_017453.3:c.265A>G, NM_017453.2:c.265A>G, NM_004602.4:c.22A>G, NM_004602.3:c.22A>G, NM_004602.2:c.22A>G, NM_017452.4:c.22A>G, NM_017452.3:c.22A>G, NM_017452.2:c.22A>G, NM_017454.4:c.22A>G, NM_017454.3:c.22A>G, NM_017454.2:c.22A>G, NM_001037328.3:c.22A>G, NM_001037328.2:c.22A>G, NM_001037328.1:c.22A>G, NM_001322929.2:c.265A>G, NM_001322929.1:c.265A>G, NM_001322931.2:c.142A>G, NM_001322931.1:c.142A>G, NM_001322933.2:c.265A>G, NM_001322933.1:c.265A>G, NM_001322928.2:c.142A>G, NM_001322928.1:c.142A>G, NM_001319135.2:c.265A>G, NM_001319135.1:c.265A>G, NM_001322932.2:c.265A>G, NM_001322932.1:c.265A>G, NM_001322930.2:c.265A>G, NM_001322930.1:c.265A>G, NM_001319134.2:c.22A>G, NM_001319134.1:c.22A>G, NM_001322927.2:c.22A>G, NM_001322927.1:c.22A>G, XM_006723865.2:c.265A>G, XM_006723865.1:c.265A>G, XM_017028028.2:c.142A>G, XM_017028028.1:c.142A>G, XM_047440421.1:c.265A>G, XM_047440417.1:c.265A>G, XM_047440422.1:c.265A>G, XM_047440423.1:c.142A>G, XM_047440415.1:c.265A>G, XM_047440418.1:c.265A>G, XM_047440414.1:c.265A>G, XM_047440419.1:c.265A>G, XM_005260527.1:c.22A>G, XM_047440424.1:c.142A>G, XM_047440416.1:c.265A>G, XM_047440420.1:c.265A>G, NP_059347.2:p.Met89Val, NP_004593.2:p.Met8Val, NP_059346.2:p.Met8Val, NP_059348.2:p.Met8Val, NP_001032405.1:p.Met8Val, NP_001309858.1:p.Met89Val, NP_001309860.1:p.Met48Val, NP_001309862.1:p.Met89Val, NP_001309857.1:p.Met48Val, NP_001306064.1:p.Met89Val, NP_001309861.1:p.Met89Val, NP_001309859.1:p.Met89Val, NP_001306063.1:p.Met8Val, NP_001309856.1:p.Met8Val, XP_006723928.1:p.Met89Val, XP_016883517.1:p.Met48Val, XP_047296377.1:p.Met89Val, XP_047296373.1:p.Met89Val, XP_047296378.1:p.Met89Val, XP_047296379.1:p.Met48Val, XP_047296371.1:p.Met89Val, XP_047296374.1:p.Met89Val, XP_047296370.1:p.Met89Val, XP_047296375.1:p.Met89Val, XP_005260584.1:p.Met8Val, XP_047296380.1:p.Met48Val, XP_047296372.1:p.Met89Val, XP_047296376.1:p.Met89Val

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