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Items: 1 to 20 of 1000

1.

rs1490629293 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    16:24789251 (GRCh38)
    16:24800572 (GRCh37)
    Canonical SPDI:
    NC_000016.10:24789250:A:C
    Gene:
    TNRC6A (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    NC_000016.10:g.24789251A>C, NC_000016.9:g.24800572A>C, NW_021160019.1:g.39951A>C, XM_005255257.5:c.-151A>C, XM_005255257.4:c.-151A>C, XM_005255257.3:c.-151A>C, XM_005255257.2:c.-151A>C, XM_005255257.1:c.-151A>C, NM_014494.4:c.609A>C, NM_014494.3:c.609A>C, NM_014494.2:c.609A>C, XM_017023144.3:c.636A>C, XM_017023144.2:c.636A>C, XM_017023144.1:c.636A>C, XM_017023145.3:c.636A>C, XM_017023145.2:c.636A>C, XM_017023145.1:c.636A>C, XM_017023148.3:c.636A>C, XM_017023148.2:c.636A>C, XM_017023148.1:c.636A>C, XM_017023150.3:c.636A>C, XM_017023150.2:c.636A>C, XM_017023150.1:c.636A>C, NM_001330520.3:c.609A>C, NM_001330520.2:c.609A>C, NM_001330520.1:c.609A>C, XM_017023152.3:c.210A>C, XM_017023152.2:c.210A>C, XM_017023152.1:c.210A>C, XM_024450231.2:c.636A>C, XM_024450231.1:c.636A>C, NM_001351850.2:c.636A>C, NM_001351850.1:c.636A>C, XM_024450232.2:c.636A>C, XM_024450232.1:c.636A>C, XM_017023146.2:c.561A>C, XM_017023146.1:c.561A>C, XM_017023153.2:c.-151A>C, XM_017023153.1:c.-151A>C, XM_024450233.2:c.636A>C, XM_024450233.1:c.636A>C, XM_047433910.1:c.609A>C, XM_047433914.1:c.636A>C, XM_047433918.1:c.636A>C, XM_047433939.1:c.-151A>C, XM_047433940.1:c.-151A>C, XM_047433912.1:c.609A>C, XM_047433913.1:c.609A>C, XM_047433911.1:c.528A>C, XM_047433922.1:c.636A>C, XM_047433915.1:c.561A>C, XM_047433916.1:c.609A>C, XM_047433917.1:c.609A>C, XM_047433924.1:c.636A>C, XM_047433920.1:c.609A>C, XM_047433927.1:c.636A>C, XM_047433937.1:c.-151A>C, XM_047433938.1:c.-151A>C, XM_047433921.1:c.609A>C, XM_047433919.1:c.528A>C, XM_047433923.1:c.609A>C, XM_047433925.1:c.561A>C, XM_047433926.1:c.609A>C, XM_047433929.1:c.561A>C, XM_047433931.1:c.183A>C, XM_047433930.1:c.609A>C, XM_047433928.1:c.528A>C, XM_047433932.1:c.528A>C, XM_047433935.1:c.183A>C, XM_047433933.1:c.528A>C, XM_047433934.1:c.102A>C, XM_047433936.1:c.183A>C, XM_047433941.1:c.183A>C, XM_047433942.1:c.135A>C, XM_047433943.1:c.183A>C, XM_047433944.1:c.102A>C, NM_020847.1:c.609A>C

    2.

    rs1490423614 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:24794600 (GRCh38)
      16:24805921 (GRCh37)
      Canonical SPDI:
      NC_000016.10:24794599:C:T
      Gene:
      TNRC6A (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000043/1 (ALFA)
      T=0.000019/5 (TOPMED)
      T=0.000029/4 (GnomAD)
      HGVS:
      NC_000016.10:g.24794600C>T, NC_000016.9:g.24805921C>T, NW_021160019.1:g.45300C>T, XM_005255257.5:c.2650C>T, XM_005255257.4:c.2650C>T, XM_005255257.3:c.2650C>T, XM_005255257.2:c.2650C>T, XM_005255257.1:c.2650C>T, NM_014494.4:c.3409C>T, NM_014494.3:c.3409C>T, NM_014494.2:c.3409C>T, XM_017023144.3:c.3436C>T, XM_017023144.2:c.3436C>T, XM_017023144.1:c.3436C>T, XM_017023145.3:c.3436C>T, XM_017023145.2:c.3436C>T, XM_017023145.1:c.3436C>T, XM_017023148.3:c.3259C>T, XM_017023148.2:c.3259C>T, XM_017023148.1:c.3259C>T, XM_017023150.3:c.3436C>T, XM_017023150.2:c.3436C>T, XM_017023150.1:c.3436C>T, NM_001330520.3:c.3409C>T, NM_001330520.2:c.3409C>T, NM_001330520.1:c.3409C>T, XM_017023152.3:c.3010C>T, XM_017023152.2:c.3010C>T, XM_017023152.1:c.3010C>T, XM_024450231.2:c.3436C>T, XM_024450231.1:c.3436C>T, NM_001351850.2:c.3436C>T, NM_001351850.1:c.3436C>T, XM_024450232.2:c.3436C>T, XM_024450232.1:c.3436C>T, XM_017023146.2:c.3361C>T, XM_017023146.1:c.3361C>T, XM_017023153.2:c.2650C>T, XM_017023153.1:c.2650C>T, XM_024450233.2:c.3259C>T, XM_024450233.1:c.3259C>T, XM_047433910.1:c.3409C>T, XM_047433914.1:c.3259C>T, XM_047433918.1:c.3436C>T, XM_047433939.1:c.2650C>T, XM_047433940.1:c.2650C>T, XM_047433912.1:c.3232C>T, XM_047433913.1:c.3409C>T, XM_047433911.1:c.3328C>T, XM_047433922.1:c.3259C>T, XM_047433915.1:c.3361C>T, XM_047433916.1:c.3232C>T, XM_047433917.1:c.3409C>T, XM_047433924.1:c.3259C>T, XM_047433920.1:c.3409C>T, XM_047433927.1:c.3259C>T, XM_047433937.1:c.2650C>T, XM_047433938.1:c.2650C>T, XM_047433921.1:c.3232C>T, XM_047433919.1:c.3328C>T, XM_047433923.1:c.3232C>T, XM_047433925.1:c.3184C>T, XM_047433926.1:c.3232C>T, XM_047433929.1:c.3184C>T, XM_047433931.1:c.2983C>T, XM_047433930.1:c.3232C>T, XM_047433928.1:c.3151C>T, XM_047433932.1:c.3151C>T, XM_047433935.1:c.2983C>T, XM_047433933.1:c.3151C>T, XM_047433934.1:c.2902C>T, XM_047433936.1:c.2806C>T, XM_047433941.1:c.2806C>T, XM_047433942.1:c.2758C>T, XM_047433943.1:c.2806C>T, XM_047433944.1:c.2725C>T, NM_020847.1:c.3409C>T, XP_005255314.1:p.Arg884Cys, NP_055309.2:p.Arg1137Cys, XP_016878633.1:p.Arg1146Cys, XP_016878634.1:p.Arg1146Cys, XP_016878637.1:p.Arg1087Cys, XP_016878639.1:p.Arg1146Cys, NP_001317449.1:p.Arg1137Cys, XP_016878641.1:p.Arg1004Cys, XP_024305999.1:p.Arg1146Cys, NP_001338779.1:p.Arg1146Cys, XP_024306000.1:p.Arg1146Cys, XP_016878635.1:p.Arg1121Cys, XP_016878642.1:p.Arg884Cys, XP_024306001.1:p.Arg1087Cys, XP_047289866.1:p.Arg1137Cys, XP_047289870.1:p.Arg1087Cys, XP_047289874.1:p.Arg1146Cys, XP_047289895.1:p.Arg884Cys, XP_047289896.1:p.Arg884Cys, XP_047289868.1:p.Arg1078Cys, XP_047289869.1:p.Arg1137Cys, XP_047289867.1:p.Arg1110Cys, XP_047289878.1:p.Arg1087Cys, XP_047289871.1:p.Arg1121Cys, XP_047289872.1:p.Arg1078Cys, XP_047289873.1:p.Arg1137Cys, XP_047289880.1:p.Arg1087Cys, XP_047289876.1:p.Arg1137Cys, XP_047289883.1:p.Arg1087Cys, XP_047289893.1:p.Arg884Cys, XP_047289894.1:p.Arg884Cys, XP_047289877.1:p.Arg1078Cys, XP_047289875.1:p.Arg1110Cys, XP_047289879.1:p.Arg1078Cys, XP_047289881.1:p.Arg1062Cys, XP_047289882.1:p.Arg1078Cys, XP_047289885.1:p.Arg1062Cys, XP_047289887.1:p.Arg995Cys, XP_047289886.1:p.Arg1078Cys, XP_047289884.1:p.Arg1051Cys, XP_047289888.1:p.Arg1051Cys, XP_047289891.1:p.Arg995Cys, XP_047289889.1:p.Arg1051Cys, XP_047289890.1:p.Arg968Cys, XP_047289892.1:p.Arg936Cys, XP_047289897.1:p.Arg936Cys, XP_047289898.1:p.Arg920Cys, XP_047289899.1:p.Arg936Cys, XP_047289900.1:p.Arg909Cys

      3.

      rs1490234886 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        16:24790881 (GRCh38)
        16:24802202 (GRCh37)
        Canonical SPDI:
        NC_000016.10:24790880:G:A,NC_000016.10:24790880:G:C
        Gene:
        TNRC6A (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        HGVS:
        NC_000016.10:g.24790881G>A, NC_000016.10:g.24790881G>C, NC_000016.9:g.24802202G>A, NC_000016.9:g.24802202G>C, NW_021160019.1:g.41581G>A, NW_021160019.1:g.41581G>C, XM_005255257.5:c.1480G>A, XM_005255257.5:c.1480G>C, XM_005255257.4:c.1480G>A, XM_005255257.4:c.1480G>C, XM_005255257.3:c.1480G>A, XM_005255257.3:c.1480G>C, XM_005255257.2:c.1480G>A, XM_005255257.2:c.1480G>C, XM_005255257.1:c.1480G>A, XM_005255257.1:c.1480G>C, NM_014494.4:c.2239G>A, NM_014494.4:c.2239G>C, NM_014494.3:c.2239G>A, NM_014494.3:c.2239G>C, NM_014494.2:c.2239G>A, NM_014494.2:c.2239G>C, XM_017023144.3:c.2266G>A, XM_017023144.3:c.2266G>C, XM_017023144.2:c.2266G>A, XM_017023144.2:c.2266G>C, XM_017023144.1:c.2266G>A, XM_017023144.1:c.2266G>C, XM_017023145.3:c.2266G>A, XM_017023145.3:c.2266G>C, XM_017023145.2:c.2266G>A, XM_017023145.2:c.2266G>C, XM_017023145.1:c.2266G>A, XM_017023145.1:c.2266G>C, XM_017023148.3:c.2266G>A, XM_017023148.3:c.2266G>C, XM_017023148.2:c.2266G>A, XM_017023148.2:c.2266G>C, XM_017023148.1:c.2266G>A, XM_017023148.1:c.2266G>C, XM_017023150.3:c.2266G>A, XM_017023150.3:c.2266G>C, XM_017023150.2:c.2266G>A, XM_017023150.2:c.2266G>C, XM_017023150.1:c.2266G>A, XM_017023150.1:c.2266G>C, NM_001330520.3:c.2239G>A, NM_001330520.3:c.2239G>C, NM_001330520.2:c.2239G>A, NM_001330520.2:c.2239G>C, NM_001330520.1:c.2239G>A, NM_001330520.1:c.2239G>C, XM_017023152.3:c.1840G>A, XM_017023152.3:c.1840G>C, XM_017023152.2:c.1840G>A, XM_017023152.2:c.1840G>C, XM_017023152.1:c.1840G>A, XM_017023152.1:c.1840G>C, XM_024450231.2:c.2266G>A, XM_024450231.2:c.2266G>C, XM_024450231.1:c.2266G>A, XM_024450231.1:c.2266G>C, NM_001351850.2:c.2266G>A, NM_001351850.2:c.2266G>C, NM_001351850.1:c.2266G>A, NM_001351850.1:c.2266G>C, XM_024450232.2:c.2266G>A, XM_024450232.2:c.2266G>C, XM_024450232.1:c.2266G>A, XM_024450232.1:c.2266G>C, XM_017023146.2:c.2191G>A, XM_017023146.2:c.2191G>C, XM_017023146.1:c.2191G>A, XM_017023146.1:c.2191G>C, XM_017023153.2:c.1480G>A, XM_017023153.2:c.1480G>C, XM_017023153.1:c.1480G>A, XM_017023153.1:c.1480G>C, XM_024450233.2:c.2266G>A, XM_024450233.2:c.2266G>C, XM_024450233.1:c.2266G>A, XM_024450233.1:c.2266G>C, XM_047433910.1:c.2239G>A, XM_047433910.1:c.2239G>C, XM_047433914.1:c.2266G>A, XM_047433914.1:c.2266G>C, XM_047433918.1:c.2266G>A, XM_047433918.1:c.2266G>C, XM_047433939.1:c.1480G>A, XM_047433939.1:c.1480G>C, XM_047433940.1:c.1480G>A, XM_047433940.1:c.1480G>C, XM_047433912.1:c.2239G>A, XM_047433912.1:c.2239G>C, XM_047433913.1:c.2239G>A, XM_047433913.1:c.2239G>C, XM_047433911.1:c.2158G>A, XM_047433911.1:c.2158G>C, XM_047433922.1:c.2266G>A, XM_047433922.1:c.2266G>C, XM_047433915.1:c.2191G>A, XM_047433915.1:c.2191G>C, XM_047433916.1:c.2239G>A, XM_047433916.1:c.2239G>C, XM_047433917.1:c.2239G>A, XM_047433917.1:c.2239G>C, XM_047433924.1:c.2266G>A, XM_047433924.1:c.2266G>C, XM_047433920.1:c.2239G>A, XM_047433920.1:c.2239G>C, XM_047433927.1:c.2266G>A, XM_047433927.1:c.2266G>C, XM_047433937.1:c.1480G>A, XM_047433937.1:c.1480G>C, XM_047433938.1:c.1480G>A, XM_047433938.1:c.1480G>C, XM_047433921.1:c.2239G>A, XM_047433921.1:c.2239G>C, XM_047433919.1:c.2158G>A, XM_047433919.1:c.2158G>C, XM_047433923.1:c.2239G>A, XM_047433923.1:c.2239G>C, XM_047433925.1:c.2191G>A, XM_047433925.1:c.2191G>C, XM_047433926.1:c.2239G>A, XM_047433926.1:c.2239G>C, XM_047433929.1:c.2191G>A, XM_047433929.1:c.2191G>C, XM_047433931.1:c.1813G>A, XM_047433931.1:c.1813G>C, XM_047433930.1:c.2239G>A, XM_047433930.1:c.2239G>C, XM_047433928.1:c.2158G>A, XM_047433928.1:c.2158G>C, XM_047433932.1:c.2158G>A, XM_047433932.1:c.2158G>C, XM_047433935.1:c.1813G>A, XM_047433935.1:c.1813G>C, XM_047433933.1:c.2158G>A, XM_047433933.1:c.2158G>C, XM_047433934.1:c.1732G>A, XM_047433934.1:c.1732G>C, XM_047433936.1:c.1813G>A, XM_047433936.1:c.1813G>C, XM_047433941.1:c.1813G>A, XM_047433941.1:c.1813G>C, XM_047433942.1:c.1765G>A, XM_047433942.1:c.1765G>C, XM_047433943.1:c.1813G>A, XM_047433943.1:c.1813G>C, XM_047433944.1:c.1732G>A, XM_047433944.1:c.1732G>C, NM_020847.1:c.2239G>A, NM_020847.1:c.2239G>C, XP_005255314.1:p.Asp494Asn, XP_005255314.1:p.Asp494His, NP_055309.2:p.Asp747Asn, NP_055309.2:p.Asp747His, XP_016878633.1:p.Asp756Asn, XP_016878633.1:p.Asp756His, XP_016878634.1:p.Asp756Asn, XP_016878634.1:p.Asp756His, XP_016878637.1:p.Asp756Asn, XP_016878637.1:p.Asp756His, XP_016878639.1:p.Asp756Asn, XP_016878639.1:p.Asp756His, NP_001317449.1:p.Asp747Asn, NP_001317449.1:p.Asp747His, XP_016878641.1:p.Asp614Asn, XP_016878641.1:p.Asp614His, XP_024305999.1:p.Asp756Asn, XP_024305999.1:p.Asp756His, NP_001338779.1:p.Asp756Asn, NP_001338779.1:p.Asp756His, XP_024306000.1:p.Asp756Asn, XP_024306000.1:p.Asp756His, XP_016878635.1:p.Asp731Asn, XP_016878635.1:p.Asp731His, XP_016878642.1:p.Asp494Asn, XP_016878642.1:p.Asp494His, XP_024306001.1:p.Asp756Asn, XP_024306001.1:p.Asp756His, XP_047289866.1:p.Asp747Asn, XP_047289866.1:p.Asp747His, XP_047289870.1:p.Asp756Asn, XP_047289870.1:p.Asp756His, XP_047289874.1:p.Asp756Asn, XP_047289874.1:p.Asp756His, XP_047289895.1:p.Asp494Asn, XP_047289895.1:p.Asp494His, XP_047289896.1:p.Asp494Asn, XP_047289896.1:p.Asp494His, XP_047289868.1:p.Asp747Asn, XP_047289868.1:p.Asp747His, XP_047289869.1:p.Asp747Asn, XP_047289869.1:p.Asp747His, XP_047289867.1:p.Asp720Asn, XP_047289867.1:p.Asp720His, XP_047289878.1:p.Asp756Asn, XP_047289878.1:p.Asp756His, XP_047289871.1:p.Asp731Asn, XP_047289871.1:p.Asp731His, XP_047289872.1:p.Asp747Asn, XP_047289872.1:p.Asp747His, XP_047289873.1:p.Asp747Asn, XP_047289873.1:p.Asp747His, XP_047289880.1:p.Asp756Asn, XP_047289880.1:p.Asp756His, XP_047289876.1:p.Asp747Asn, XP_047289876.1:p.Asp747His, XP_047289883.1:p.Asp756Asn, XP_047289883.1:p.Asp756His, XP_047289893.1:p.Asp494Asn, XP_047289893.1:p.Asp494His, XP_047289894.1:p.Asp494Asn, XP_047289894.1:p.Asp494His, XP_047289877.1:p.Asp747Asn, XP_047289877.1:p.Asp747His, XP_047289875.1:p.Asp720Asn, XP_047289875.1:p.Asp720His, XP_047289879.1:p.Asp747Asn, XP_047289879.1:p.Asp747His, XP_047289881.1:p.Asp731Asn, XP_047289881.1:p.Asp731His, XP_047289882.1:p.Asp747Asn, XP_047289882.1:p.Asp747His, XP_047289885.1:p.Asp731Asn, XP_047289885.1:p.Asp731His, XP_047289887.1:p.Asp605Asn, XP_047289887.1:p.Asp605His, XP_047289886.1:p.Asp747Asn, XP_047289886.1:p.Asp747His, XP_047289884.1:p.Asp720Asn, XP_047289884.1:p.Asp720His, XP_047289888.1:p.Asp720Asn, XP_047289888.1:p.Asp720His, XP_047289891.1:p.Asp605Asn, XP_047289891.1:p.Asp605His, XP_047289889.1:p.Asp720Asn, XP_047289889.1:p.Asp720His, XP_047289890.1:p.Asp578Asn, XP_047289890.1:p.Asp578His, XP_047289892.1:p.Asp605Asn, XP_047289892.1:p.Asp605His, XP_047289897.1:p.Asp605Asn, XP_047289897.1:p.Asp605His, XP_047289898.1:p.Asp589Asn, XP_047289898.1:p.Asp589His, XP_047289899.1:p.Asp605Asn, XP_047289899.1:p.Asp605His, XP_047289900.1:p.Asp578Asn, XP_047289900.1:p.Asp578His

        4.

        rs1489583117 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:24805081 (GRCh38)
          16:24816402 (GRCh37)
          Canonical SPDI:
          NC_000016.10:24805080:C:T
          Gene:
          TNRC6A (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000016.10:g.24805081C>T, NC_000016.9:g.24816402C>T, NW_021160019.1:g.55781C>T, XM_005255257.5:c.3293C>T, XM_005255257.4:c.3293C>T, XM_005255257.3:c.3293C>T, XM_005255257.2:c.3293C>T, XM_005255257.1:c.3293C>T, NM_014494.4:c.4052C>T, NM_014494.3:c.4052C>T, NM_014494.2:c.4052C>T, XM_017023144.3:c.4046C>T, XM_017023144.2:c.4046C>T, XM_017023144.1:c.4046C>T, XM_017023145.3:c.4079C>T, XM_017023145.2:c.4079C>T, XM_017023145.1:c.4079C>T, XM_017023148.3:c.3902C>T, XM_017023148.2:c.3902C>T, XM_017023148.1:c.3902C>T, XM_017023150.3:c.3932C>T, XM_017023150.2:c.3932C>T, XM_017023150.1:c.3932C>T, NM_001330520.3:c.3905C>T, NM_001330520.2:c.3905C>T, NM_001330520.1:c.3905C>T, XM_017023152.3:c.3653C>T, XM_017023152.2:c.3653C>T, XM_017023152.1:c.3653C>T, XM_024450231.2:c.4079C>T, XM_024450231.1:c.4079C>T, NM_001351850.2:c.3932C>T, NM_001351850.1:c.3932C>T, XM_024450232.2:c.3899C>T, XM_024450232.1:c.3899C>T, XM_017023146.2:c.4004C>T, XM_017023146.1:c.4004C>T, XM_017023153.2:c.3293C>T, XM_017023153.1:c.3293C>T, XM_024450233.2:c.3755C>T, XM_024450233.1:c.3755C>T, XM_047433910.1:c.4019C>T, XM_047433914.1:c.3869C>T, XM_047433918.1:c.3899C>T, XM_047433939.1:c.3293C>T, XM_047433940.1:c.3293C>T, XM_047433912.1:c.3875C>T, XM_047433913.1:c.3872C>T, XM_047433911.1:c.3971C>T, XM_047433922.1:c.3722C>T, XM_047433915.1:c.3857C>T, XM_047433916.1:c.3842C>T, XM_047433917.1:c.3905C>T, XM_047433924.1:c.3755C>T, XM_047433920.1:c.3872C>T, XM_047433927.1:c.3722C>T, XM_047433937.1:c.3293C>T, XM_047433938.1:c.3293C>T, XM_047433921.1:c.3728C>T, XM_047433919.1:c.3824C>T, XM_047433923.1:c.3695C>T, XM_047433925.1:c.3680C>T, XM_047433926.1:c.3728C>T, XM_047433929.1:c.3647C>T, XM_047433931.1:c.3626C>T, XM_047433930.1:c.3695C>T, XM_047433928.1:c.3647C>T, XM_047433932.1:c.3614C>T, XM_047433935.1:c.3479C>T, XM_047433933.1:c.3647C>T, XM_047433934.1:c.3545C>T, XM_047433936.1:c.3302C>T, XM_047433941.1:c.3269C>T, XM_047433942.1:c.3254C>T, XM_047433943.1:c.3302C>T, XM_047433944.1:c.3188C>T, NM_020847.1:c.4052C>T, XP_005255314.1:p.Pro1098Leu, NP_055309.2:p.Pro1351Leu, XP_016878633.1:p.Pro1349Leu, XP_016878634.1:p.Pro1360Leu, XP_016878637.1:p.Pro1301Leu, XP_016878639.1:p.Pro1311Leu, NP_001317449.1:p.Pro1302Leu, XP_016878641.1:p.Pro1218Leu, XP_024305999.1:p.Pro1360Leu, NP_001338779.1:p.Pro1311Leu, XP_024306000.1:p.Pro1300Leu, XP_016878635.1:p.Pro1335Leu, XP_016878642.1:p.Pro1098Leu, XP_024306001.1:p.Pro1252Leu, XP_047289866.1:p.Pro1340Leu, XP_047289870.1:p.Pro1290Leu, XP_047289874.1:p.Pro1300Leu, XP_047289895.1:p.Pro1098Leu, XP_047289896.1:p.Pro1098Leu, XP_047289868.1:p.Pro1292Leu, XP_047289869.1:p.Pro1291Leu, XP_047289867.1:p.Pro1324Leu, XP_047289878.1:p.Pro1241Leu, XP_047289871.1:p.Pro1286Leu, XP_047289872.1:p.Pro1281Leu, XP_047289873.1:p.Pro1302Leu, XP_047289880.1:p.Pro1252Leu, XP_047289876.1:p.Pro1291Leu, XP_047289883.1:p.Pro1241Leu, XP_047289893.1:p.Pro1098Leu, XP_047289894.1:p.Pro1098Leu, XP_047289877.1:p.Pro1243Leu, XP_047289875.1:p.Pro1275Leu, XP_047289879.1:p.Pro1232Leu, XP_047289881.1:p.Pro1227Leu, XP_047289882.1:p.Pro1243Leu, XP_047289885.1:p.Pro1216Leu, XP_047289887.1:p.Pro1209Leu, XP_047289886.1:p.Pro1232Leu, XP_047289884.1:p.Pro1216Leu, XP_047289888.1:p.Pro1205Leu, XP_047289891.1:p.Pro1160Leu, XP_047289889.1:p.Pro1216Leu, XP_047289890.1:p.Pro1182Leu, XP_047289892.1:p.Pro1101Leu, XP_047289897.1:p.Pro1090Leu, XP_047289898.1:p.Pro1085Leu, XP_047289899.1:p.Pro1101Leu, XP_047289900.1:p.Pro1063Leu

          5.

          rs1489283775 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:24823583 (GRCh38)
            16:24834904 (GRCh37)
            Canonical SPDI:
            NC_000016.10:24823582:C:T
            Gene:
            TNRC6A (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000016.10:g.24823583C>T, NC_000016.9:g.24834904C>T, NW_021160019.1:g.74283C>T, XM_005255257.5:c.4906C>T, XM_005255257.4:c.4906C>T, XM_005255257.3:c.4906C>T, XM_005255257.2:c.4906C>T, XM_005255257.1:c.4906C>T, NM_014494.4:c.5665C>T, NM_014494.3:c.5665C>T, NM_014494.2:c.5665C>T, XM_017023144.3:c.5659C>T, XM_017023144.2:c.5659C>T, XM_017023144.1:c.5659C>T, XM_017023145.3:c.5623C>T, XM_017023145.2:c.5623C>T, XM_017023145.1:c.5623C>T, XM_017023148.3:c.5515C>T, XM_017023148.2:c.5515C>T, XM_017023148.1:c.5515C>T, XM_017023150.3:c.5476C>T, XM_017023150.2:c.5476C>T, XM_017023150.1:c.5476C>T, NM_001330520.3:c.5518C>T, NM_001330520.2:c.5518C>T, NM_001330520.1:c.5518C>T, XM_017023152.3:c.5266C>T, XM_017023152.2:c.5266C>T, XM_017023152.1:c.5266C>T, XM_024450231.2:c.5692C>T, XM_024450231.1:c.5692C>T, NM_001351850.2:c.5545C>T, NM_001351850.1:c.5545C>T, XM_024450232.2:c.5512C>T, XM_024450232.1:c.5512C>T, XM_017023146.2:c.5617C>T, XM_017023146.1:c.5617C>T, XM_017023153.2:c.4906C>T, XM_017023153.1:c.4906C>T, XM_024450233.2:c.5368C>T, XM_024450233.1:c.5368C>T, XM_047433910.1:c.5632C>T, XM_047433914.1:c.5482C>T, XM_047433918.1:c.5443C>T, XM_047433939.1:c.4906C>T, XM_047433940.1:c.4906C>T, XM_047433912.1:c.5488C>T, XM_047433913.1:c.5485C>T, XM_047433911.1:c.5584C>T, XM_047433922.1:c.5335C>T, XM_047433915.1:c.5470C>T, XM_047433916.1:c.5455C>T, XM_047433917.1:c.5449C>T, XM_047433924.1:c.5299C>T, XM_047433920.1:c.5416C>T, XM_047433927.1:c.5266C>T, XM_047433937.1:c.4906C>T, XM_047433938.1:c.4906C>T, XM_047433921.1:c.5341C>T, XM_047433919.1:c.5437C>T, XM_047433923.1:c.5308C>T, XM_047433925.1:c.5293C>T, XM_047433926.1:c.5272C>T, XM_047433929.1:c.5260C>T, XM_047433931.1:c.5239C>T, XM_047433930.1:c.5239C>T, XM_047433928.1:c.5260C>T, XM_047433932.1:c.5227C>T, XM_047433935.1:c.5092C>T, XM_047433933.1:c.5191C>T, XM_047433934.1:c.5158C>T, XM_047433936.1:c.4915C>T, XM_047433941.1:c.4882C>T, XM_047433942.1:c.4867C>T, XM_047433943.1:c.4846C>T, XM_047433944.1:c.4801C>T, NM_020847.1:c.5665C>T, XP_005255314.1:p.His1636Tyr, NP_055309.2:p.His1889Tyr, XP_016878633.1:p.His1887Tyr, XP_016878634.1:p.His1875Tyr, XP_016878637.1:p.His1839Tyr, XP_016878639.1:p.His1826Tyr, NP_001317449.1:p.His1840Tyr, XP_016878641.1:p.His1756Tyr, XP_024305999.1:p.His1898Tyr, NP_001338779.1:p.His1849Tyr, XP_024306000.1:p.His1838Tyr, XP_016878635.1:p.His1873Tyr, XP_016878642.1:p.His1636Tyr, XP_024306001.1:p.His1790Tyr, XP_047289866.1:p.His1878Tyr, XP_047289870.1:p.His1828Tyr, XP_047289874.1:p.His1815Tyr, XP_047289895.1:p.His1636Tyr, XP_047289896.1:p.His1636Tyr, XP_047289868.1:p.His1830Tyr, XP_047289869.1:p.His1829Tyr, XP_047289867.1:p.His1862Tyr, XP_047289878.1:p.His1779Tyr, XP_047289871.1:p.His1824Tyr, XP_047289872.1:p.His1819Tyr, XP_047289873.1:p.His1817Tyr, XP_047289880.1:p.His1767Tyr, XP_047289876.1:p.His1806Tyr, XP_047289883.1:p.His1756Tyr, XP_047289893.1:p.His1636Tyr, XP_047289894.1:p.His1636Tyr, XP_047289877.1:p.His1781Tyr, XP_047289875.1:p.His1813Tyr, XP_047289879.1:p.His1770Tyr, XP_047289881.1:p.His1765Tyr, XP_047289882.1:p.His1758Tyr, XP_047289885.1:p.His1754Tyr, XP_047289887.1:p.His1747Tyr, XP_047289886.1:p.His1747Tyr, XP_047289884.1:p.His1754Tyr, XP_047289888.1:p.His1743Tyr, XP_047289891.1:p.His1698Tyr, XP_047289889.1:p.His1731Tyr, XP_047289890.1:p.His1720Tyr, XP_047289892.1:p.His1639Tyr, XP_047289897.1:p.His1628Tyr, XP_047289898.1:p.His1623Tyr, XP_047289899.1:p.His1616Tyr, XP_047289900.1:p.His1601Tyr

            6.

            rs1489158912 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              16:24805709 (GRCh38)
              16:24817030 (GRCh37)
              Canonical SPDI:
              NC_000016.10:24805708:G:A,NC_000016.10:24805708:G:C
              Gene:
              TNRC6A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000016.10:g.24805709G>A, NC_000016.10:g.24805709G>C, NC_000016.9:g.24817030G>A, NC_000016.9:g.24817030G>C, NW_021160019.1:g.56409G>A, NW_021160019.1:g.56409G>C, XM_005255257.5:c.3468G>A, XM_005255257.5:c.3468G>C, XM_005255257.4:c.3468G>A, XM_005255257.4:c.3468G>C, XM_005255257.3:c.3468G>A, XM_005255257.3:c.3468G>C, XM_005255257.2:c.3468G>A, XM_005255257.2:c.3468G>C, XM_005255257.1:c.3468G>A, XM_005255257.1:c.3468G>C, NM_014494.4:c.4227G>A, NM_014494.4:c.4227G>C, NM_014494.3:c.4227G>A, NM_014494.3:c.4227G>C, NM_014494.2:c.4227G>A, NM_014494.2:c.4227G>C, XM_017023144.3:c.4221G>A, XM_017023144.3:c.4221G>C, XM_017023144.2:c.4221G>A, XM_017023144.2:c.4221G>C, XM_017023144.1:c.4221G>A, XM_017023144.1:c.4221G>C, XM_017023145.3:c.4185G>A, XM_017023145.3:c.4185G>C, XM_017023145.2:c.4185G>A, XM_017023145.2:c.4185G>C, XM_017023145.1:c.4185G>A, XM_017023145.1:c.4185G>C, XM_017023148.3:c.4077G>A, XM_017023148.3:c.4077G>C, XM_017023148.2:c.4077G>A, XM_017023148.2:c.4077G>C, XM_017023148.1:c.4077G>A, XM_017023148.1:c.4077G>C, XM_017023150.3:c.4038G>A, XM_017023150.3:c.4038G>C, XM_017023150.2:c.4038G>A, XM_017023150.2:c.4038G>C, XM_017023150.1:c.4038G>A, XM_017023150.1:c.4038G>C, NM_001330520.3:c.4080G>A, NM_001330520.3:c.4080G>C, NM_001330520.2:c.4080G>A, NM_001330520.2:c.4080G>C, NM_001330520.1:c.4080G>A, NM_001330520.1:c.4080G>C, XM_017023152.3:c.3828G>A, XM_017023152.3:c.3828G>C, XM_017023152.2:c.3828G>A, XM_017023152.2:c.3828G>C, XM_017023152.1:c.3828G>A, XM_017023152.1:c.3828G>C, XM_024450231.2:c.4254G>A, XM_024450231.2:c.4254G>C, XM_024450231.1:c.4254G>A, XM_024450231.1:c.4254G>C, NM_001351850.2:c.4107G>A, NM_001351850.2:c.4107G>C, NM_001351850.1:c.4107G>A, NM_001351850.1:c.4107G>C, XM_024450232.2:c.4074G>A, XM_024450232.2:c.4074G>C, XM_024450232.1:c.4074G>A, XM_024450232.1:c.4074G>C, XM_017023146.2:c.4179G>A, XM_017023146.2:c.4179G>C, XM_017023146.1:c.4179G>A, XM_017023146.1:c.4179G>C, XM_017023153.2:c.3468G>A, XM_017023153.2:c.3468G>C, XM_017023153.1:c.3468G>A, XM_017023153.1:c.3468G>C, XM_024450233.2:c.3930G>A, XM_024450233.2:c.3930G>C, XM_024450233.1:c.3930G>A, XM_024450233.1:c.3930G>C, XM_047433910.1:c.4194G>A, XM_047433910.1:c.4194G>C, XM_047433914.1:c.4044G>A, XM_047433914.1:c.4044G>C, XM_047433918.1:c.4005G>A, XM_047433918.1:c.4005G>C, XM_047433939.1:c.3468G>A, XM_047433939.1:c.3468G>C, XM_047433940.1:c.3468G>A, XM_047433940.1:c.3468G>C, XM_047433912.1:c.4050G>A, XM_047433912.1:c.4050G>C, XM_047433913.1:c.4047G>A, XM_047433913.1:c.4047G>C, XM_047433911.1:c.4146G>A, XM_047433911.1:c.4146G>C, XM_047433922.1:c.3897G>A, XM_047433922.1:c.3897G>C, XM_047433915.1:c.4032G>A, XM_047433915.1:c.4032G>C, XM_047433916.1:c.4017G>A, XM_047433916.1:c.4017G>C, XM_047433917.1:c.4011G>A, XM_047433917.1:c.4011G>C, XM_047433924.1:c.3861G>A, XM_047433924.1:c.3861G>C, XM_047433920.1:c.3978G>A, XM_047433920.1:c.3978G>C, XM_047433927.1:c.3828G>A, XM_047433927.1:c.3828G>C, XM_047433937.1:c.3468G>A, XM_047433937.1:c.3468G>C, XM_047433938.1:c.3468G>A, XM_047433938.1:c.3468G>C, XM_047433921.1:c.3903G>A, XM_047433921.1:c.3903G>C, XM_047433919.1:c.3999G>A, XM_047433919.1:c.3999G>C, XM_047433923.1:c.3870G>A, XM_047433923.1:c.3870G>C, XM_047433925.1:c.3855G>A, XM_047433925.1:c.3855G>C, XM_047433926.1:c.3834G>A, XM_047433926.1:c.3834G>C, XM_047433929.1:c.3822G>A, XM_047433929.1:c.3822G>C, XM_047433931.1:c.3801G>A, XM_047433931.1:c.3801G>C, XM_047433930.1:c.3801G>A, XM_047433930.1:c.3801G>C, XM_047433928.1:c.3822G>A, XM_047433928.1:c.3822G>C, XM_047433932.1:c.3789G>A, XM_047433932.1:c.3789G>C, XM_047433935.1:c.3654G>A, XM_047433935.1:c.3654G>C, XM_047433933.1:c.3753G>A, XM_047433933.1:c.3753G>C, XM_047433934.1:c.3720G>A, XM_047433934.1:c.3720G>C, XM_047433936.1:c.3477G>A, XM_047433936.1:c.3477G>C, XM_047433941.1:c.3444G>A, XM_047433941.1:c.3444G>C, XM_047433942.1:c.3429G>A, XM_047433942.1:c.3429G>C, XM_047433943.1:c.3408G>A, XM_047433943.1:c.3408G>C, XM_047433944.1:c.3363G>A, XM_047433944.1:c.3363G>C, NM_020847.1:c.4227G>A, NM_020847.1:c.4227G>C, XP_005255314.1:p.Gln1156His, NP_055309.2:p.Gln1409His, XP_016878633.1:p.Gln1407His, XP_016878634.1:p.Gln1395His, XP_016878637.1:p.Gln1359His, XP_016878639.1:p.Gln1346His, NP_001317449.1:p.Gln1360His, XP_016878641.1:p.Gln1276His, XP_024305999.1:p.Gln1418His, NP_001338779.1:p.Gln1369His, XP_024306000.1:p.Gln1358His, XP_016878635.1:p.Gln1393His, XP_016878642.1:p.Gln1156His, XP_024306001.1:p.Gln1310His, XP_047289866.1:p.Gln1398His, XP_047289870.1:p.Gln1348His, XP_047289874.1:p.Gln1335His, XP_047289895.1:p.Gln1156His, XP_047289896.1:p.Gln1156His, XP_047289868.1:p.Gln1350His, XP_047289869.1:p.Gln1349His, XP_047289867.1:p.Gln1382His, XP_047289878.1:p.Gln1299His, XP_047289871.1:p.Gln1344His, XP_047289872.1:p.Gln1339His, XP_047289873.1:p.Gln1337His, XP_047289880.1:p.Gln1287His, XP_047289876.1:p.Gln1326His, XP_047289883.1:p.Gln1276His, XP_047289893.1:p.Gln1156His, XP_047289894.1:p.Gln1156His, XP_047289877.1:p.Gln1301His, XP_047289875.1:p.Gln1333His, XP_047289879.1:p.Gln1290His, XP_047289881.1:p.Gln1285His, XP_047289882.1:p.Gln1278His, XP_047289885.1:p.Gln1274His, XP_047289887.1:p.Gln1267His, XP_047289886.1:p.Gln1267His, XP_047289884.1:p.Gln1274His, XP_047289888.1:p.Gln1263His, XP_047289891.1:p.Gln1218His, XP_047289889.1:p.Gln1251His, XP_047289890.1:p.Gln1240His, XP_047289892.1:p.Gln1159His, XP_047289897.1:p.Gln1148His, XP_047289898.1:p.Gln1143His, XP_047289899.1:p.Gln1136His, XP_047289900.1:p.Gln1121His

              7.

              rs1489089493 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                16:24793626 (GRCh38)
                16:24804947 (GRCh37)
                Canonical SPDI:
                NC_000016.10:24793625:G:T
                Gene:
                TNRC6A (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                NC_000016.10:g.24793626G>T, NC_000016.9:g.24804947G>T, NW_021160019.1:g.44326G>T, XM_005255257.5:c.2570G>T, XM_005255257.4:c.2570G>T, XM_005255257.3:c.2570G>T, XM_005255257.2:c.2570G>T, XM_005255257.1:c.2570G>T, NM_014494.4:c.3329G>T, NM_014494.3:c.3329G>T, NM_014494.2:c.3329G>T, XM_017023144.3:c.3356G>T, XM_017023144.2:c.3356G>T, XM_017023144.1:c.3356G>T, XM_017023145.3:c.3356G>T, XM_017023145.2:c.3356G>T, XM_017023145.1:c.3356G>T, XM_017023150.3:c.3356G>T, XM_017023150.2:c.3356G>T, XM_017023150.1:c.3356G>T, NM_001330520.3:c.3329G>T, NM_001330520.2:c.3329G>T, NM_001330520.1:c.3329G>T, XM_017023152.3:c.2930G>T, XM_017023152.2:c.2930G>T, XM_017023152.1:c.2930G>T, XM_024450231.2:c.3356G>T, XM_024450231.1:c.3356G>T, NM_001351850.2:c.3356G>T, NM_001351850.1:c.3356G>T, XM_024450232.2:c.3356G>T, XM_024450232.1:c.3356G>T, XM_017023146.2:c.3281G>T, XM_017023146.1:c.3281G>T, XM_017023153.2:c.2570G>T, XM_017023153.1:c.2570G>T, XM_047433910.1:c.3329G>T, XM_047433918.1:c.3356G>T, XM_047433939.1:c.2570G>T, XM_047433940.1:c.2570G>T, XM_047433913.1:c.3329G>T, XM_047433911.1:c.3248G>T, XM_047433915.1:c.3281G>T, XM_047433917.1:c.3329G>T, XM_047433920.1:c.3329G>T, XM_047433937.1:c.2570G>T, XM_047433938.1:c.2570G>T, XM_047433919.1:c.3248G>T, XM_047433931.1:c.2903G>T, XM_047433935.1:c.2903G>T, XM_047433934.1:c.2822G>T, NM_020847.1:c.3329G>T, XP_005255314.1:p.Gly857Val, NP_055309.2:p.Gly1110Val, XP_016878633.1:p.Gly1119Val, XP_016878634.1:p.Gly1119Val, XP_016878639.1:p.Gly1119Val, NP_001317449.1:p.Gly1110Val, XP_016878641.1:p.Gly977Val, XP_024305999.1:p.Gly1119Val, NP_001338779.1:p.Gly1119Val, XP_024306000.1:p.Gly1119Val, XP_016878635.1:p.Gly1094Val, XP_016878642.1:p.Gly857Val, XP_047289866.1:p.Gly1110Val, XP_047289874.1:p.Gly1119Val, XP_047289895.1:p.Gly857Val, XP_047289896.1:p.Gly857Val, XP_047289869.1:p.Gly1110Val, XP_047289867.1:p.Gly1083Val, XP_047289871.1:p.Gly1094Val, XP_047289873.1:p.Gly1110Val, XP_047289876.1:p.Gly1110Val, XP_047289893.1:p.Gly857Val, XP_047289894.1:p.Gly857Val, XP_047289875.1:p.Gly1083Val, XP_047289887.1:p.Gly968Val, XP_047289891.1:p.Gly968Val, XP_047289890.1:p.Gly941Val

                8.

                rs1487912092 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  16:24793546 (GRCh38)
                  16:24804867 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:24793545:G:T
                  Gene:
                  TNRC6A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  HGVS:
                  NC_000016.10:g.24793546G>T, NC_000016.9:g.24804867G>T, NW_021160019.1:g.44246G>T, XM_005255257.5:c.2490G>T, XM_005255257.4:c.2490G>T, XM_005255257.3:c.2490G>T, XM_005255257.2:c.2490G>T, XM_005255257.1:c.2490G>T, NM_014494.4:c.3249G>T, NM_014494.3:c.3249G>T, NM_014494.2:c.3249G>T, XM_017023144.3:c.3276G>T, XM_017023144.2:c.3276G>T, XM_017023144.1:c.3276G>T, XM_017023145.3:c.3276G>T, XM_017023145.2:c.3276G>T, XM_017023145.1:c.3276G>T, XM_017023150.3:c.3276G>T, XM_017023150.2:c.3276G>T, XM_017023150.1:c.3276G>T, NM_001330520.3:c.3249G>T, NM_001330520.2:c.3249G>T, NM_001330520.1:c.3249G>T, XM_017023152.3:c.2850G>T, XM_017023152.2:c.2850G>T, XM_017023152.1:c.2850G>T, XM_024450231.2:c.3276G>T, XM_024450231.1:c.3276G>T, NM_001351850.2:c.3276G>T, NM_001351850.1:c.3276G>T, XM_024450232.2:c.3276G>T, XM_024450232.1:c.3276G>T, XM_017023146.2:c.3201G>T, XM_017023146.1:c.3201G>T, XM_017023153.2:c.2490G>T, XM_017023153.1:c.2490G>T, XM_047433910.1:c.3249G>T, XM_047433918.1:c.3276G>T, XM_047433939.1:c.2490G>T, XM_047433940.1:c.2490G>T, XM_047433913.1:c.3249G>T, XM_047433911.1:c.3168G>T, XM_047433915.1:c.3201G>T, XM_047433917.1:c.3249G>T, XM_047433920.1:c.3249G>T, XM_047433937.1:c.2490G>T, XM_047433938.1:c.2490G>T, XM_047433919.1:c.3168G>T, XM_047433931.1:c.2823G>T, XM_047433935.1:c.2823G>T, XM_047433934.1:c.2742G>T, NM_020847.1:c.3249G>T, XP_005255314.1:p.Lys830Asn, NP_055309.2:p.Lys1083Asn, XP_016878633.1:p.Lys1092Asn, XP_016878634.1:p.Lys1092Asn, XP_016878639.1:p.Lys1092Asn, NP_001317449.1:p.Lys1083Asn, XP_016878641.1:p.Lys950Asn, XP_024305999.1:p.Lys1092Asn, NP_001338779.1:p.Lys1092Asn, XP_024306000.1:p.Lys1092Asn, XP_016878635.1:p.Lys1067Asn, XP_016878642.1:p.Lys830Asn, XP_047289866.1:p.Lys1083Asn, XP_047289874.1:p.Lys1092Asn, XP_047289895.1:p.Lys830Asn, XP_047289896.1:p.Lys830Asn, XP_047289869.1:p.Lys1083Asn, XP_047289867.1:p.Lys1056Asn, XP_047289871.1:p.Lys1067Asn, XP_047289873.1:p.Lys1083Asn, XP_047289876.1:p.Lys1083Asn, XP_047289893.1:p.Lys830Asn, XP_047289894.1:p.Lys830Asn, XP_047289875.1:p.Lys1056Asn, XP_047289887.1:p.Lys941Asn, XP_047289891.1:p.Lys941Asn, XP_047289890.1:p.Lys914Asn

                  9.

                  rs1487728812 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:24823477 (GRCh38)
                    16:24834798 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:24823476:A:G
                    Gene:
                    TNRC6A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000016.10:g.24823477A>G, NC_000016.9:g.24834798A>G, NW_021160019.1:g.74177A>G, XM_005255257.5:c.4800A>G, XM_005255257.4:c.4800A>G, XM_005255257.3:c.4800A>G, XM_005255257.2:c.4800A>G, XM_005255257.1:c.4800A>G, NM_014494.4:c.5559A>G, NM_014494.3:c.5559A>G, NM_014494.2:c.5559A>G, XM_017023144.3:c.5553A>G, XM_017023144.2:c.5553A>G, XM_017023144.1:c.5553A>G, XM_017023145.3:c.5517A>G, XM_017023145.2:c.5517A>G, XM_017023145.1:c.5517A>G, XM_017023148.3:c.5409A>G, XM_017023148.2:c.5409A>G, XM_017023148.1:c.5409A>G, XM_017023150.3:c.5370A>G, XM_017023150.2:c.5370A>G, XM_017023150.1:c.5370A>G, NM_001330520.3:c.5412A>G, NM_001330520.2:c.5412A>G, NM_001330520.1:c.5412A>G, XM_017023152.3:c.5160A>G, XM_017023152.2:c.5160A>G, XM_017023152.1:c.5160A>G, XM_024450231.2:c.5586A>G, XM_024450231.1:c.5586A>G, NM_001351850.2:c.5439A>G, NM_001351850.1:c.5439A>G, XM_024450232.2:c.5406A>G, XM_024450232.1:c.5406A>G, XM_017023146.2:c.5511A>G, XM_017023146.1:c.5511A>G, XM_017023153.2:c.4800A>G, XM_017023153.1:c.4800A>G, XM_024450233.2:c.5262A>G, XM_024450233.1:c.5262A>G, XM_047433910.1:c.5526A>G, XM_047433914.1:c.5376A>G, XM_047433918.1:c.5337A>G, XM_047433939.1:c.4800A>G, XM_047433940.1:c.4800A>G, XM_047433912.1:c.5382A>G, XM_047433913.1:c.5379A>G, XM_047433911.1:c.5478A>G, XM_047433922.1:c.5229A>G, XM_047433915.1:c.5364A>G, XM_047433916.1:c.5349A>G, XM_047433917.1:c.5343A>G, XM_047433924.1:c.5193A>G, XM_047433920.1:c.5310A>G, XM_047433927.1:c.5160A>G, XM_047433937.1:c.4800A>G, XM_047433938.1:c.4800A>G, XM_047433921.1:c.5235A>G, XM_047433919.1:c.5331A>G, XM_047433923.1:c.5202A>G, XM_047433925.1:c.5187A>G, XM_047433926.1:c.5166A>G, XM_047433929.1:c.5154A>G, XM_047433931.1:c.5133A>G, XM_047433930.1:c.5133A>G, XM_047433928.1:c.5154A>G, XM_047433932.1:c.5121A>G, XM_047433935.1:c.4986A>G, XM_047433933.1:c.5085A>G, XM_047433934.1:c.5052A>G, XM_047433936.1:c.4809A>G, XM_047433941.1:c.4776A>G, XM_047433942.1:c.4761A>G, XM_047433943.1:c.4740A>G, XM_047433944.1:c.4695A>G, NM_020847.1:c.5559A>G

                    10.

                    rs1487588883 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:24806712 (GRCh38)
                      16:24818033 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:24806711:G:A
                      Gene:
                      TNRC6A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000016.10:g.24806712G>A, NC_000016.9:g.24818033G>A, NW_021160019.1:g.57412G>A, XM_005255257.5:c.3709G>A, XM_005255257.4:c.3709G>A, XM_005255257.3:c.3709G>A, XM_005255257.2:c.3709G>A, XM_005255257.1:c.3709G>A, NM_014494.4:c.4468G>A, NM_014494.3:c.4468G>A, NM_014494.2:c.4468G>A, XM_017023144.3:c.4462G>A, XM_017023144.2:c.4462G>A, XM_017023144.1:c.4462G>A, XM_017023145.3:c.4426G>A, XM_017023145.2:c.4426G>A, XM_017023145.1:c.4426G>A, XM_017023148.3:c.4318G>A, XM_017023148.2:c.4318G>A, XM_017023148.1:c.4318G>A, XM_017023150.3:c.4279G>A, XM_017023150.2:c.4279G>A, XM_017023150.1:c.4279G>A, NM_001330520.3:c.4321G>A, NM_001330520.2:c.4321G>A, NM_001330520.1:c.4321G>A, XM_017023152.3:c.4069G>A, XM_017023152.2:c.4069G>A, XM_017023152.1:c.4069G>A, XM_024450231.2:c.4495G>A, XM_024450231.1:c.4495G>A, NM_001351850.2:c.4348G>A, NM_001351850.1:c.4348G>A, XM_024450232.2:c.4315G>A, XM_024450232.1:c.4315G>A, XM_017023146.2:c.4420G>A, XM_017023146.1:c.4420G>A, XM_017023153.2:c.3709G>A, XM_017023153.1:c.3709G>A, XM_024450233.2:c.4171G>A, XM_024450233.1:c.4171G>A, XM_047433910.1:c.4435G>A, XM_047433914.1:c.4285G>A, XM_047433918.1:c.4246G>A, XM_047433939.1:c.3709G>A, XM_047433940.1:c.3709G>A, XM_047433912.1:c.4291G>A, XM_047433913.1:c.4288G>A, XM_047433911.1:c.4387G>A, XM_047433922.1:c.4138G>A, XM_047433915.1:c.4273G>A, XM_047433916.1:c.4258G>A, XM_047433917.1:c.4252G>A, XM_047433924.1:c.4102G>A, XM_047433920.1:c.4219G>A, XM_047433927.1:c.4069G>A, XM_047433937.1:c.3709G>A, XM_047433938.1:c.3709G>A, XM_047433921.1:c.4144G>A, XM_047433919.1:c.4240G>A, XM_047433923.1:c.4111G>A, XM_047433925.1:c.4096G>A, XM_047433926.1:c.4075G>A, XM_047433929.1:c.4063G>A, XM_047433931.1:c.4042G>A, XM_047433930.1:c.4042G>A, XM_047433928.1:c.4063G>A, XM_047433932.1:c.4030G>A, XM_047433935.1:c.3895G>A, XM_047433933.1:c.3994G>A, XM_047433934.1:c.3961G>A, XM_047433936.1:c.3718G>A, XM_047433941.1:c.3685G>A, XM_047433942.1:c.3670G>A, XM_047433943.1:c.3649G>A, XM_047433944.1:c.3604G>A, NM_020847.1:c.4468G>A, XP_005255314.1:p.Val1237Ile, NP_055309.2:p.Val1490Ile, XP_016878633.1:p.Val1488Ile, XP_016878634.1:p.Val1476Ile, XP_016878637.1:p.Val1440Ile, XP_016878639.1:p.Val1427Ile, NP_001317449.1:p.Val1441Ile, XP_016878641.1:p.Val1357Ile, XP_024305999.1:p.Val1499Ile, NP_001338779.1:p.Val1450Ile, XP_024306000.1:p.Val1439Ile, XP_016878635.1:p.Val1474Ile, XP_016878642.1:p.Val1237Ile, XP_024306001.1:p.Val1391Ile, XP_047289866.1:p.Val1479Ile, XP_047289870.1:p.Val1429Ile, XP_047289874.1:p.Val1416Ile, XP_047289895.1:p.Val1237Ile, XP_047289896.1:p.Val1237Ile, XP_047289868.1:p.Val1431Ile, XP_047289869.1:p.Val1430Ile, XP_047289867.1:p.Val1463Ile, XP_047289878.1:p.Val1380Ile, XP_047289871.1:p.Val1425Ile, XP_047289872.1:p.Val1420Ile, XP_047289873.1:p.Val1418Ile, XP_047289880.1:p.Val1368Ile, XP_047289876.1:p.Val1407Ile, XP_047289883.1:p.Val1357Ile, XP_047289893.1:p.Val1237Ile, XP_047289894.1:p.Val1237Ile, XP_047289877.1:p.Val1382Ile, XP_047289875.1:p.Val1414Ile, XP_047289879.1:p.Val1371Ile, XP_047289881.1:p.Val1366Ile, XP_047289882.1:p.Val1359Ile, XP_047289885.1:p.Val1355Ile, XP_047289887.1:p.Val1348Ile, XP_047289886.1:p.Val1348Ile, XP_047289884.1:p.Val1355Ile, XP_047289888.1:p.Val1344Ile, XP_047289891.1:p.Val1299Ile, XP_047289889.1:p.Val1332Ile, XP_047289890.1:p.Val1321Ile, XP_047289892.1:p.Val1240Ile, XP_047289897.1:p.Val1229Ile, XP_047289898.1:p.Val1224Ile, XP_047289899.1:p.Val1217Ile, XP_047289900.1:p.Val1202Ile

                      11.

                      rs1487163354 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        ATC>- [Show Flanks]
                        Chromosome:
                        16:24805651 (GRCh38)
                        16:24816972 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:24805650:ATC:
                        Gene:
                        TNRC6A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,inframe_indel,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000016.10:g.24805651_24805653del, NC_000016.9:g.24816972_24816974del, NW_021160019.1:g.56351_56353del, XM_005255257.5:c.3410_3412del, XM_005255257.4:c.3410_3412del, XM_005255257.3:c.3410_3412del, XM_005255257.2:c.3410_3412del, XM_005255257.1:c.3410_3412del, NM_014494.4:c.4169_4171del, NM_014494.3:c.4169_4171del, NM_014494.2:c.4169_4171del, XM_017023144.3:c.4163_4165del, XM_017023144.2:c.4163_4165del, XM_017023144.1:c.4163_4165del, XM_017023148.3:c.4019_4021del, XM_017023148.2:c.4019_4021del, XM_017023148.1:c.4019_4021del, NM_001330520.3:c.4022_4024del, NM_001330520.2:c.4022_4024del, NM_001330520.1:c.4022_4024del, XM_017023152.3:c.3770_3772del, XM_017023152.2:c.3770_3772del, XM_017023152.1:c.3770_3772del, XM_024450231.2:c.4196_4198del, XM_024450231.1:c.4196_4198del, NM_001351850.2:c.4049_4051del, NM_001351850.1:c.4049_4051del, XM_024450232.2:c.4016_4018del, XM_024450232.1:c.4016_4018del, XM_017023146.2:c.4121_4123del, XM_017023146.1:c.4121_4123del, XM_017023153.2:c.3410_3412del, XM_017023153.1:c.3410_3412del, XM_024450233.2:c.3872_3874del, XM_024450233.1:c.3872_3874del, XM_047433910.1:c.4136_4138del, XM_047433914.1:c.3986_3988del, XM_047433939.1:c.3410_3412del, XM_047433940.1:c.3410_3412del, XM_047433912.1:c.3992_3994del, XM_047433913.1:c.3989_3991del, XM_047433911.1:c.4088_4090del, XM_047433922.1:c.3839_3841del, XM_047433915.1:c.3974_3976del, XM_047433916.1:c.3959_3961del, XM_047433937.1:c.3410_3412del, XM_047433938.1:c.3410_3412del, XM_047433921.1:c.3845_3847del, XM_047433919.1:c.3941_3943del, XM_047433923.1:c.3812_3814del, XM_047433925.1:c.3797_3799del, XM_047433929.1:c.3764_3766del, XM_047433931.1:c.3743_3745del, XM_047433928.1:c.3764_3766del, XM_047433932.1:c.3731_3733del, XM_047433935.1:c.3596_3598del, XM_047433934.1:c.3662_3664del, XM_047433936.1:c.3419_3421del, XM_047433941.1:c.3386_3388del, XM_047433942.1:c.3371_3373del, XM_047433944.1:c.3305_3307del, NM_020847.1:c.4169_4171del, XP_005255314.1:p.Asn1137_Pro1138delinsThr, NP_055309.2:p.Asn1390_Pro1391delinsThr, XP_016878633.1:p.Asn1388_Pro1389delinsThr, XP_016878637.1:p.Asn1340_Pro1341delinsThr, NP_001317449.1:p.Asn1341_Pro1342delinsThr, XP_016878641.1:p.Asn1257_Pro1258delinsThr, XP_024305999.1:p.Asn1399_Pro1400delinsThr, NP_001338779.1:p.Asn1350_Pro1351delinsThr, XP_024306000.1:p.Asn1339_Pro1340delinsThr, XP_016878635.1:p.Asn1374_Pro1375delinsThr, XP_016878642.1:p.Asn1137_Pro1138delinsThr, XP_024306001.1:p.Asn1291_Pro1292delinsThr, XP_047289866.1:p.Asn1379_Pro1380delinsThr, XP_047289870.1:p.Asn1329_Pro1330delinsThr, XP_047289895.1:p.Asn1137_Pro1138delinsThr, XP_047289896.1:p.Asn1137_Pro1138delinsThr, XP_047289868.1:p.Asn1331_Pro1332delinsThr, XP_047289869.1:p.Asn1330_Pro1331delinsThr, XP_047289867.1:p.Asn1363_Pro1364delinsThr, XP_047289878.1:p.Asn1280_Pro1281delinsThr, XP_047289871.1:p.Asn1325_Pro1326delinsThr, XP_047289872.1:p.Asn1320_Pro1321delinsThr, XP_047289893.1:p.Asn1137_Pro1138delinsThr, XP_047289894.1:p.Asn1137_Pro1138delinsThr, XP_047289877.1:p.Asn1282_Pro1283delinsThr, XP_047289875.1:p.Asn1314_Pro1315delinsThr, XP_047289879.1:p.Asn1271_Pro1272delinsThr, XP_047289881.1:p.Asn1266_Pro1267delinsThr, XP_047289885.1:p.Asn1255_Pro1256delinsThr, XP_047289887.1:p.Asn1248_Pro1249delinsThr, XP_047289884.1:p.Asn1255_Pro1256delinsThr, XP_047289888.1:p.Asn1244_Pro1245delinsThr, XP_047289891.1:p.Asn1199_Pro1200delinsThr, XP_047289890.1:p.Asn1221_Pro1222delinsThr, XP_047289892.1:p.Asn1140_Pro1141delinsThr, XP_047289897.1:p.Asn1129_Pro1130delinsThr, XP_047289898.1:p.Asn1124_Pro1125delinsThr, XP_047289900.1:p.Asn1102_Pro1103delinsThr

                        12.

                        rs1487006671 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:24794546 (GRCh38)
                          16:24805867 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:24794545:C:T
                          Gene:
                          TNRC6A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000016.10:g.24794546C>T, NC_000016.9:g.24805867C>T, NW_021160019.1:g.45246C>T, XM_005255257.5:c.2596C>T, XM_005255257.4:c.2596C>T, XM_005255257.3:c.2596C>T, XM_005255257.2:c.2596C>T, XM_005255257.1:c.2596C>T, NM_014494.4:c.3355C>T, NM_014494.3:c.3355C>T, NM_014494.2:c.3355C>T, XM_017023144.3:c.3382C>T, XM_017023144.2:c.3382C>T, XM_017023144.1:c.3382C>T, XM_017023145.3:c.3382C>T, XM_017023145.2:c.3382C>T, XM_017023145.1:c.3382C>T, XM_017023148.3:c.3205C>T, XM_017023148.2:c.3205C>T, XM_017023148.1:c.3205C>T, XM_017023150.3:c.3382C>T, XM_017023150.2:c.3382C>T, XM_017023150.1:c.3382C>T, NM_001330520.3:c.3355C>T, NM_001330520.2:c.3355C>T, NM_001330520.1:c.3355C>T, XM_017023152.3:c.2956C>T, XM_017023152.2:c.2956C>T, XM_017023152.1:c.2956C>T, XM_024450231.2:c.3382C>T, XM_024450231.1:c.3382C>T, NM_001351850.2:c.3382C>T, NM_001351850.1:c.3382C>T, XM_024450232.2:c.3382C>T, XM_024450232.1:c.3382C>T, XM_017023146.2:c.3307C>T, XM_017023146.1:c.3307C>T, XM_017023153.2:c.2596C>T, XM_017023153.1:c.2596C>T, XM_024450233.2:c.3205C>T, XM_024450233.1:c.3205C>T, XM_047433910.1:c.3355C>T, XM_047433914.1:c.3205C>T, XM_047433918.1:c.3382C>T, XM_047433939.1:c.2596C>T, XM_047433940.1:c.2596C>T, XM_047433912.1:c.3178C>T, XM_047433913.1:c.3355C>T, XM_047433911.1:c.3274C>T, XM_047433922.1:c.3205C>T, XM_047433915.1:c.3307C>T, XM_047433916.1:c.3178C>T, XM_047433917.1:c.3355C>T, XM_047433924.1:c.3205C>T, XM_047433920.1:c.3355C>T, XM_047433927.1:c.3205C>T, XM_047433937.1:c.2596C>T, XM_047433938.1:c.2596C>T, XM_047433921.1:c.3178C>T, XM_047433919.1:c.3274C>T, XM_047433923.1:c.3178C>T, XM_047433925.1:c.3130C>T, XM_047433926.1:c.3178C>T, XM_047433929.1:c.3130C>T, XM_047433931.1:c.2929C>T, XM_047433930.1:c.3178C>T, XM_047433928.1:c.3097C>T, XM_047433932.1:c.3097C>T, XM_047433935.1:c.2929C>T, XM_047433933.1:c.3097C>T, XM_047433934.1:c.2848C>T, XM_047433936.1:c.2752C>T, XM_047433941.1:c.2752C>T, XM_047433942.1:c.2704C>T, XM_047433943.1:c.2752C>T, XM_047433944.1:c.2671C>T, NM_020847.1:c.3355C>T, XP_005255314.1:p.Pro866Ser, NP_055309.2:p.Pro1119Ser, XP_016878633.1:p.Pro1128Ser, XP_016878634.1:p.Pro1128Ser, XP_016878637.1:p.Pro1069Ser, XP_016878639.1:p.Pro1128Ser, NP_001317449.1:p.Pro1119Ser, XP_016878641.1:p.Pro986Ser, XP_024305999.1:p.Pro1128Ser, NP_001338779.1:p.Pro1128Ser, XP_024306000.1:p.Pro1128Ser, XP_016878635.1:p.Pro1103Ser, XP_016878642.1:p.Pro866Ser, XP_024306001.1:p.Pro1069Ser, XP_047289866.1:p.Pro1119Ser, XP_047289870.1:p.Pro1069Ser, XP_047289874.1:p.Pro1128Ser, XP_047289895.1:p.Pro866Ser, XP_047289896.1:p.Pro866Ser, XP_047289868.1:p.Pro1060Ser, XP_047289869.1:p.Pro1119Ser, XP_047289867.1:p.Pro1092Ser, XP_047289878.1:p.Pro1069Ser, XP_047289871.1:p.Pro1103Ser, XP_047289872.1:p.Pro1060Ser, XP_047289873.1:p.Pro1119Ser, XP_047289880.1:p.Pro1069Ser, XP_047289876.1:p.Pro1119Ser, XP_047289883.1:p.Pro1069Ser, XP_047289893.1:p.Pro866Ser, XP_047289894.1:p.Pro866Ser, XP_047289877.1:p.Pro1060Ser, XP_047289875.1:p.Pro1092Ser, XP_047289879.1:p.Pro1060Ser, XP_047289881.1:p.Pro1044Ser, XP_047289882.1:p.Pro1060Ser, XP_047289885.1:p.Pro1044Ser, XP_047289887.1:p.Pro977Ser, XP_047289886.1:p.Pro1060Ser, XP_047289884.1:p.Pro1033Ser, XP_047289888.1:p.Pro1033Ser, XP_047289891.1:p.Pro977Ser, XP_047289889.1:p.Pro1033Ser, XP_047289890.1:p.Pro950Ser, XP_047289892.1:p.Pro918Ser, XP_047289897.1:p.Pro918Ser, XP_047289898.1:p.Pro902Ser, XP_047289899.1:p.Pro918Ser, XP_047289900.1:p.Pro891Ser

                          13.

                          rs1486952313 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:24791606 (GRCh38)
                            16:24802927 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:24791605:G:A
                            Gene:
                            TNRC6A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000032/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.24791606G>A, NC_000016.9:g.24802927G>A, NW_021160019.1:g.42306G>A, XM_005255257.5:c.2205G>A, XM_005255257.4:c.2205G>A, XM_005255257.3:c.2205G>A, XM_005255257.2:c.2205G>A, XM_005255257.1:c.2205G>A, NM_014494.4:c.2964G>A, NM_014494.3:c.2964G>A, NM_014494.2:c.2964G>A, XM_017023144.3:c.2991G>A, XM_017023144.2:c.2991G>A, XM_017023144.1:c.2991G>A, XM_017023145.3:c.2991G>A, XM_017023145.2:c.2991G>A, XM_017023145.1:c.2991G>A, XM_017023148.3:c.2991G>A, XM_017023148.2:c.2991G>A, XM_017023148.1:c.2991G>A, XM_017023150.3:c.2991G>A, XM_017023150.2:c.2991G>A, XM_017023150.1:c.2991G>A, NM_001330520.3:c.2964G>A, NM_001330520.2:c.2964G>A, NM_001330520.1:c.2964G>A, XM_017023152.3:c.2565G>A, XM_017023152.2:c.2565G>A, XM_017023152.1:c.2565G>A, XM_024450231.2:c.2991G>A, XM_024450231.1:c.2991G>A, NM_001351850.2:c.2991G>A, NM_001351850.1:c.2991G>A, XM_024450232.2:c.2991G>A, XM_024450232.1:c.2991G>A, XM_017023146.2:c.2916G>A, XM_017023146.1:c.2916G>A, XM_017023153.2:c.2205G>A, XM_017023153.1:c.2205G>A, XM_024450233.2:c.2991G>A, XM_024450233.1:c.2991G>A, XM_047433910.1:c.2964G>A, XM_047433914.1:c.2991G>A, XM_047433918.1:c.2991G>A, XM_047433939.1:c.2205G>A, XM_047433940.1:c.2205G>A, XM_047433912.1:c.2964G>A, XM_047433913.1:c.2964G>A, XM_047433911.1:c.2883G>A, XM_047433922.1:c.2991G>A, XM_047433915.1:c.2916G>A, XM_047433916.1:c.2964G>A, XM_047433917.1:c.2964G>A, XM_047433924.1:c.2991G>A, XM_047433920.1:c.2964G>A, XM_047433927.1:c.2991G>A, XM_047433937.1:c.2205G>A, XM_047433938.1:c.2205G>A, XM_047433921.1:c.2964G>A, XM_047433919.1:c.2883G>A, XM_047433923.1:c.2964G>A, XM_047433925.1:c.2916G>A, XM_047433926.1:c.2964G>A, XM_047433929.1:c.2916G>A, XM_047433931.1:c.2538G>A, XM_047433930.1:c.2964G>A, XM_047433928.1:c.2883G>A, XM_047433932.1:c.2883G>A, XM_047433935.1:c.2538G>A, XM_047433933.1:c.2883G>A, XM_047433934.1:c.2457G>A, XM_047433936.1:c.2538G>A, XM_047433941.1:c.2538G>A, XM_047433942.1:c.2490G>A, XM_047433943.1:c.2538G>A, XM_047433944.1:c.2457G>A, NM_020847.1:c.2964G>A

                            14.

                            rs1486693972 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              16:24789567 (GRCh38)
                              16:24800888 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:24789566:A:G
                              Gene:
                              TNRC6A (Varview)
                              Functional Consequence:
                              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_000016.10:g.24789567A>G, NC_000016.9:g.24800888A>G, NW_021160019.1:g.40267A>G, XM_005255257.5:c.166A>G, XM_005255257.4:c.166A>G, XM_005255257.3:c.166A>G, XM_005255257.2:c.166A>G, XM_005255257.1:c.166A>G, NM_014494.4:c.925A>G, NM_014494.3:c.925A>G, NM_014494.2:c.925A>G, XM_017023144.3:c.952A>G, XM_017023144.2:c.952A>G, XM_017023144.1:c.952A>G, XM_017023145.3:c.952A>G, XM_017023145.2:c.952A>G, XM_017023145.1:c.952A>G, XM_017023148.3:c.952A>G, XM_017023148.2:c.952A>G, XM_017023148.1:c.952A>G, XM_017023150.3:c.952A>G, XM_017023150.2:c.952A>G, XM_017023150.1:c.952A>G, NM_001330520.3:c.925A>G, NM_001330520.2:c.925A>G, NM_001330520.1:c.925A>G, XM_017023152.3:c.526A>G, XM_017023152.2:c.526A>G, XM_017023152.1:c.526A>G, XM_024450231.2:c.952A>G, XM_024450231.1:c.952A>G, NM_001351850.2:c.952A>G, NM_001351850.1:c.952A>G, XM_024450232.2:c.952A>G, XM_024450232.1:c.952A>G, XM_017023146.2:c.877A>G, XM_017023146.1:c.877A>G, XM_017023153.2:c.166A>G, XM_017023153.1:c.166A>G, XM_024450233.2:c.952A>G, XM_024450233.1:c.952A>G, XM_047433910.1:c.925A>G, XM_047433914.1:c.952A>G, XM_047433918.1:c.952A>G, XM_047433939.1:c.166A>G, XM_047433940.1:c.166A>G, XM_047433912.1:c.925A>G, XM_047433913.1:c.925A>G, XM_047433911.1:c.844A>G, XM_047433922.1:c.952A>G, XM_047433915.1:c.877A>G, XM_047433916.1:c.925A>G, XM_047433917.1:c.925A>G, XM_047433924.1:c.952A>G, XM_047433920.1:c.925A>G, XM_047433927.1:c.952A>G, XM_047433937.1:c.166A>G, XM_047433938.1:c.166A>G, XM_047433921.1:c.925A>G, XM_047433919.1:c.844A>G, XM_047433923.1:c.925A>G, XM_047433925.1:c.877A>G, XM_047433926.1:c.925A>G, XM_047433929.1:c.877A>G, XM_047433931.1:c.499A>G, XM_047433930.1:c.925A>G, XM_047433928.1:c.844A>G, XM_047433932.1:c.844A>G, XM_047433935.1:c.499A>G, XM_047433933.1:c.844A>G, XM_047433934.1:c.418A>G, XM_047433936.1:c.499A>G, XM_047433941.1:c.499A>G, XM_047433942.1:c.451A>G, XM_047433943.1:c.499A>G, XM_047433944.1:c.418A>G, NM_020847.1:c.925A>G, XP_005255314.1:p.Ser56Gly, NP_055309.2:p.Ser309Gly, XP_016878633.1:p.Ser318Gly, XP_016878634.1:p.Ser318Gly, XP_016878637.1:p.Ser318Gly, XP_016878639.1:p.Ser318Gly, NP_001317449.1:p.Ser309Gly, XP_016878641.1:p.Ser176Gly, XP_024305999.1:p.Ser318Gly, NP_001338779.1:p.Ser318Gly, XP_024306000.1:p.Ser318Gly, XP_016878635.1:p.Ser293Gly, XP_016878642.1:p.Ser56Gly, XP_024306001.1:p.Ser318Gly, XP_047289866.1:p.Ser309Gly, XP_047289870.1:p.Ser318Gly, XP_047289874.1:p.Ser318Gly, XP_047289895.1:p.Ser56Gly, XP_047289896.1:p.Ser56Gly, XP_047289868.1:p.Ser309Gly, XP_047289869.1:p.Ser309Gly, XP_047289867.1:p.Ser282Gly, XP_047289878.1:p.Ser318Gly, XP_047289871.1:p.Ser293Gly, XP_047289872.1:p.Ser309Gly, XP_047289873.1:p.Ser309Gly, XP_047289880.1:p.Ser318Gly, XP_047289876.1:p.Ser309Gly, XP_047289883.1:p.Ser318Gly, XP_047289893.1:p.Ser56Gly, XP_047289894.1:p.Ser56Gly, XP_047289877.1:p.Ser309Gly, XP_047289875.1:p.Ser282Gly, XP_047289879.1:p.Ser309Gly, XP_047289881.1:p.Ser293Gly, XP_047289882.1:p.Ser309Gly, XP_047289885.1:p.Ser293Gly, XP_047289887.1:p.Ser167Gly, XP_047289886.1:p.Ser309Gly, XP_047289884.1:p.Ser282Gly, XP_047289888.1:p.Ser282Gly, XP_047289891.1:p.Ser167Gly, XP_047289889.1:p.Ser282Gly, XP_047289890.1:p.Ser140Gly, XP_047289892.1:p.Ser167Gly, XP_047289897.1:p.Ser167Gly, XP_047289898.1:p.Ser151Gly, XP_047289899.1:p.Ser167Gly, XP_047289900.1:p.Ser140Gly

                              15.

                              rs1485674804 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                16:24820357 (GRCh38)
                                16:24831678 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:24820356:C:G
                                Gene:
                                TNRC6A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.24820357C>G, NC_000016.9:g.24831678C>G, NW_021160019.1:g.71057C>G, XM_005255257.5:c.4540C>G, XM_005255257.4:c.4540C>G, XM_005255257.3:c.4540C>G, XM_005255257.2:c.4540C>G, XM_005255257.1:c.4540C>G, NM_014494.4:c.5299C>G, NM_014494.3:c.5299C>G, NM_014494.2:c.5299C>G, XM_017023144.3:c.5293C>G, XM_017023144.2:c.5293C>G, XM_017023144.1:c.5293C>G, XM_017023145.3:c.5257C>G, XM_017023145.2:c.5257C>G, XM_017023145.1:c.5257C>G, XM_017023148.3:c.5149C>G, XM_017023148.2:c.5149C>G, XM_017023148.1:c.5149C>G, XM_017023150.3:c.5110C>G, XM_017023150.2:c.5110C>G, XM_017023150.1:c.5110C>G, NM_001330520.3:c.5152C>G, NM_001330520.2:c.5152C>G, NM_001330520.1:c.5152C>G, XM_017023152.3:c.4900C>G, XM_017023152.2:c.4900C>G, XM_017023152.1:c.4900C>G, XM_024450231.2:c.5326C>G, XM_024450231.1:c.5326C>G, NM_001351850.2:c.5179C>G, NM_001351850.1:c.5179C>G, XM_024450232.2:c.5146C>G, XM_024450232.1:c.5146C>G, XM_017023146.2:c.5251C>G, XM_017023146.1:c.5251C>G, XM_017023153.2:c.4540C>G, XM_017023153.1:c.4540C>G, XM_024450233.2:c.5002C>G, XM_024450233.1:c.5002C>G, XM_047433910.1:c.5266C>G, XM_047433914.1:c.5116C>G, XM_047433918.1:c.5077C>G, XM_047433939.1:c.4540C>G, XM_047433940.1:c.4540C>G, XM_047433912.1:c.5122C>G, XM_047433913.1:c.5119C>G, XM_047433911.1:c.5218C>G, XM_047433922.1:c.4969C>G, XM_047433915.1:c.5104C>G, XM_047433916.1:c.5089C>G, XM_047433917.1:c.5083C>G, XM_047433924.1:c.4933C>G, XM_047433920.1:c.5050C>G, XM_047433927.1:c.4900C>G, XM_047433937.1:c.4540C>G, XM_047433938.1:c.4540C>G, XM_047433921.1:c.4975C>G, XM_047433919.1:c.5071C>G, XM_047433923.1:c.4942C>G, XM_047433925.1:c.4927C>G, XM_047433926.1:c.4906C>G, XM_047433929.1:c.4894C>G, XM_047433931.1:c.4873C>G, XM_047433930.1:c.4873C>G, XM_047433928.1:c.4894C>G, XM_047433932.1:c.4861C>G, XM_047433935.1:c.4726C>G, XM_047433933.1:c.4825C>G, XM_047433934.1:c.4792C>G, XM_047433936.1:c.4549C>G, XM_047433941.1:c.4516C>G, XM_047433942.1:c.4501C>G, XM_047433943.1:c.4480C>G, XM_047433944.1:c.4435C>G, NM_020847.1:c.5299C>G, XP_005255314.1:p.Pro1514Ala, NP_055309.2:p.Pro1767Ala, XP_016878633.1:p.Pro1765Ala, XP_016878634.1:p.Pro1753Ala, XP_016878637.1:p.Pro1717Ala, XP_016878639.1:p.Pro1704Ala, NP_001317449.1:p.Pro1718Ala, XP_016878641.1:p.Pro1634Ala, XP_024305999.1:p.Pro1776Ala, NP_001338779.1:p.Pro1727Ala, XP_024306000.1:p.Pro1716Ala, XP_016878635.1:p.Pro1751Ala, XP_016878642.1:p.Pro1514Ala, XP_024306001.1:p.Pro1668Ala, XP_047289866.1:p.Pro1756Ala, XP_047289870.1:p.Pro1706Ala, XP_047289874.1:p.Pro1693Ala, XP_047289895.1:p.Pro1514Ala, XP_047289896.1:p.Pro1514Ala, XP_047289868.1:p.Pro1708Ala, XP_047289869.1:p.Pro1707Ala, XP_047289867.1:p.Pro1740Ala, XP_047289878.1:p.Pro1657Ala, XP_047289871.1:p.Pro1702Ala, XP_047289872.1:p.Pro1697Ala, XP_047289873.1:p.Pro1695Ala, XP_047289880.1:p.Pro1645Ala, XP_047289876.1:p.Pro1684Ala, XP_047289883.1:p.Pro1634Ala, XP_047289893.1:p.Pro1514Ala, XP_047289894.1:p.Pro1514Ala, XP_047289877.1:p.Pro1659Ala, XP_047289875.1:p.Pro1691Ala, XP_047289879.1:p.Pro1648Ala, XP_047289881.1:p.Pro1643Ala, XP_047289882.1:p.Pro1636Ala, XP_047289885.1:p.Pro1632Ala, XP_047289887.1:p.Pro1625Ala, XP_047289886.1:p.Pro1625Ala, XP_047289884.1:p.Pro1632Ala, XP_047289888.1:p.Pro1621Ala, XP_047289891.1:p.Pro1576Ala, XP_047289889.1:p.Pro1609Ala, XP_047289890.1:p.Pro1598Ala, XP_047289892.1:p.Pro1517Ala, XP_047289897.1:p.Pro1506Ala, XP_047289898.1:p.Pro1501Ala, XP_047289899.1:p.Pro1494Ala, XP_047289900.1:p.Pro1479Ala

                                16.

                                rs1485246560 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:24816944 (GRCh38)
                                  16:24828265 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:24816943:G:A
                                  Gene:
                                  TNRC6A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.24816944G>A, NC_000016.9:g.24828265G>A, NW_021160019.1:g.67644G>A, XM_005255257.5:c.4201G>A, XM_005255257.4:c.4201G>A, XM_005255257.3:c.4201G>A, XM_005255257.2:c.4201G>A, XM_005255257.1:c.4201G>A, NM_014494.4:c.4960G>A, NM_014494.3:c.4960G>A, NM_014494.2:c.4960G>A, XM_017023144.3:c.4954G>A, XM_017023144.2:c.4954G>A, XM_017023144.1:c.4954G>A, XM_017023145.3:c.4918G>A, XM_017023145.2:c.4918G>A, XM_017023145.1:c.4918G>A, XM_017023148.3:c.4810G>A, XM_017023148.2:c.4810G>A, XM_017023148.1:c.4810G>A, XM_017023150.3:c.4771G>A, XM_017023150.2:c.4771G>A, XM_017023150.1:c.4771G>A, NM_001330520.3:c.4813G>A, NM_001330520.2:c.4813G>A, NM_001330520.1:c.4813G>A, XM_017023152.3:c.4561G>A, XM_017023152.2:c.4561G>A, XM_017023152.1:c.4561G>A, XM_024450231.2:c.4987G>A, XM_024450231.1:c.4987G>A, NM_001351850.2:c.4840G>A, NM_001351850.1:c.4840G>A, XM_024450232.2:c.4807G>A, XM_024450232.1:c.4807G>A, XM_017023146.2:c.4912G>A, XM_017023146.1:c.4912G>A, XM_017023153.2:c.4201G>A, XM_017023153.1:c.4201G>A, XM_024450233.2:c.4663G>A, XM_024450233.1:c.4663G>A, XM_047433910.1:c.4927G>A, XM_047433914.1:c.4777G>A, XM_047433918.1:c.4738G>A, XM_047433939.1:c.4201G>A, XM_047433940.1:c.4201G>A, XM_047433912.1:c.4783G>A, XM_047433913.1:c.4780G>A, XM_047433911.1:c.4879G>A, XM_047433922.1:c.4630G>A, XM_047433915.1:c.4765G>A, XM_047433916.1:c.4750G>A, XM_047433917.1:c.4744G>A, XM_047433924.1:c.4594G>A, XM_047433920.1:c.4711G>A, XM_047433927.1:c.4561G>A, XM_047433937.1:c.4201G>A, XM_047433938.1:c.4201G>A, XM_047433921.1:c.4636G>A, XM_047433919.1:c.4732G>A, XM_047433923.1:c.4603G>A, XM_047433925.1:c.4588G>A, XM_047433926.1:c.4567G>A, XM_047433929.1:c.4555G>A, XM_047433931.1:c.4534G>A, XM_047433930.1:c.4534G>A, XM_047433928.1:c.4555G>A, XM_047433932.1:c.4522G>A, XM_047433935.1:c.4387G>A, XM_047433933.1:c.4486G>A, XM_047433934.1:c.4453G>A, XM_047433936.1:c.4210G>A, XM_047433941.1:c.4177G>A, XM_047433942.1:c.4162G>A, XM_047433943.1:c.4141G>A, XM_047433944.1:c.4096G>A, NM_020847.1:c.4960G>A, XP_005255314.1:p.Asp1401Asn, NP_055309.2:p.Asp1654Asn, XP_016878633.1:p.Asp1652Asn, XP_016878634.1:p.Asp1640Asn, XP_016878637.1:p.Asp1604Asn, XP_016878639.1:p.Asp1591Asn, NP_001317449.1:p.Asp1605Asn, XP_016878641.1:p.Asp1521Asn, XP_024305999.1:p.Asp1663Asn, NP_001338779.1:p.Asp1614Asn, XP_024306000.1:p.Asp1603Asn, XP_016878635.1:p.Asp1638Asn, XP_016878642.1:p.Asp1401Asn, XP_024306001.1:p.Asp1555Asn, XP_047289866.1:p.Asp1643Asn, XP_047289870.1:p.Asp1593Asn, XP_047289874.1:p.Asp1580Asn, XP_047289895.1:p.Asp1401Asn, XP_047289896.1:p.Asp1401Asn, XP_047289868.1:p.Asp1595Asn, XP_047289869.1:p.Asp1594Asn, XP_047289867.1:p.Asp1627Asn, XP_047289878.1:p.Asp1544Asn, XP_047289871.1:p.Asp1589Asn, XP_047289872.1:p.Asp1584Asn, XP_047289873.1:p.Asp1582Asn, XP_047289880.1:p.Asp1532Asn, XP_047289876.1:p.Asp1571Asn, XP_047289883.1:p.Asp1521Asn, XP_047289893.1:p.Asp1401Asn, XP_047289894.1:p.Asp1401Asn, XP_047289877.1:p.Asp1546Asn, XP_047289875.1:p.Asp1578Asn, XP_047289879.1:p.Asp1535Asn, XP_047289881.1:p.Asp1530Asn, XP_047289882.1:p.Asp1523Asn, XP_047289885.1:p.Asp1519Asn, XP_047289887.1:p.Asp1512Asn, XP_047289886.1:p.Asp1512Asn, XP_047289884.1:p.Asp1519Asn, XP_047289888.1:p.Asp1508Asn, XP_047289891.1:p.Asp1463Asn, XP_047289889.1:p.Asp1496Asn, XP_047289890.1:p.Asp1485Asn, XP_047289892.1:p.Asp1404Asn, XP_047289897.1:p.Asp1393Asn, XP_047289898.1:p.Asp1388Asn, XP_047289899.1:p.Asp1381Asn, XP_047289900.1:p.Asp1366Asn

                                  17.

                                  rs1484695296 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    16:24790241 (GRCh38)
                                    16:24801562 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:24790240:A:T
                                    Gene:
                                    TNRC6A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.24790241A>T, NC_000016.9:g.24801562A>T, NW_021160019.1:g.40941A>T, XM_005255257.5:c.840A>T, XM_005255257.4:c.840A>T, XM_005255257.3:c.840A>T, XM_005255257.2:c.840A>T, XM_005255257.1:c.840A>T, NM_014494.4:c.1599A>T, NM_014494.3:c.1599A>T, NM_014494.2:c.1599A>T, XM_017023144.3:c.1626A>T, XM_017023144.2:c.1626A>T, XM_017023144.1:c.1626A>T, XM_017023145.3:c.1626A>T, XM_017023145.2:c.1626A>T, XM_017023145.1:c.1626A>T, XM_017023148.3:c.1626A>T, XM_017023148.2:c.1626A>T, XM_017023148.1:c.1626A>T, XM_017023150.3:c.1626A>T, XM_017023150.2:c.1626A>T, XM_017023150.1:c.1626A>T, NM_001330520.3:c.1599A>T, NM_001330520.2:c.1599A>T, NM_001330520.1:c.1599A>T, XM_017023152.3:c.1200A>T, XM_017023152.2:c.1200A>T, XM_017023152.1:c.1200A>T, XM_024450231.2:c.1626A>T, XM_024450231.1:c.1626A>T, NM_001351850.2:c.1626A>T, NM_001351850.1:c.1626A>T, XM_024450232.2:c.1626A>T, XM_024450232.1:c.1626A>T, XM_017023146.2:c.1551A>T, XM_017023146.1:c.1551A>T, XM_017023153.2:c.840A>T, XM_017023153.1:c.840A>T, XM_024450233.2:c.1626A>T, XM_024450233.1:c.1626A>T, XM_047433910.1:c.1599A>T, XM_047433914.1:c.1626A>T, XM_047433918.1:c.1626A>T, XM_047433939.1:c.840A>T, XM_047433940.1:c.840A>T, XM_047433912.1:c.1599A>T, XM_047433913.1:c.1599A>T, XM_047433911.1:c.1518A>T, XM_047433922.1:c.1626A>T, XM_047433915.1:c.1551A>T, XM_047433916.1:c.1599A>T, XM_047433917.1:c.1599A>T, XM_047433924.1:c.1626A>T, XM_047433920.1:c.1599A>T, XM_047433927.1:c.1626A>T, XM_047433937.1:c.840A>T, XM_047433938.1:c.840A>T, XM_047433921.1:c.1599A>T, XM_047433919.1:c.1518A>T, XM_047433923.1:c.1599A>T, XM_047433925.1:c.1551A>T, XM_047433926.1:c.1599A>T, XM_047433929.1:c.1551A>T, XM_047433931.1:c.1173A>T, XM_047433930.1:c.1599A>T, XM_047433928.1:c.1518A>T, XM_047433932.1:c.1518A>T, XM_047433935.1:c.1173A>T, XM_047433933.1:c.1518A>T, XM_047433934.1:c.1092A>T, XM_047433936.1:c.1173A>T, XM_047433941.1:c.1173A>T, XM_047433942.1:c.1125A>T, XM_047433943.1:c.1173A>T, XM_047433944.1:c.1092A>T, NM_020847.1:c.1599A>T, XP_005255314.1:p.Lys280Asn, NP_055309.2:p.Lys533Asn, XP_016878633.1:p.Lys542Asn, XP_016878634.1:p.Lys542Asn, XP_016878637.1:p.Lys542Asn, XP_016878639.1:p.Lys542Asn, NP_001317449.1:p.Lys533Asn, XP_016878641.1:p.Lys400Asn, XP_024305999.1:p.Lys542Asn, NP_001338779.1:p.Lys542Asn, XP_024306000.1:p.Lys542Asn, XP_016878635.1:p.Lys517Asn, XP_016878642.1:p.Lys280Asn, XP_024306001.1:p.Lys542Asn, XP_047289866.1:p.Lys533Asn, XP_047289870.1:p.Lys542Asn, XP_047289874.1:p.Lys542Asn, XP_047289895.1:p.Lys280Asn, XP_047289896.1:p.Lys280Asn, XP_047289868.1:p.Lys533Asn, XP_047289869.1:p.Lys533Asn, XP_047289867.1:p.Lys506Asn, XP_047289878.1:p.Lys542Asn, XP_047289871.1:p.Lys517Asn, XP_047289872.1:p.Lys533Asn, XP_047289873.1:p.Lys533Asn, XP_047289880.1:p.Lys542Asn, XP_047289876.1:p.Lys533Asn, XP_047289883.1:p.Lys542Asn, XP_047289893.1:p.Lys280Asn, XP_047289894.1:p.Lys280Asn, XP_047289877.1:p.Lys533Asn, XP_047289875.1:p.Lys506Asn, XP_047289879.1:p.Lys533Asn, XP_047289881.1:p.Lys517Asn, XP_047289882.1:p.Lys533Asn, XP_047289885.1:p.Lys517Asn, XP_047289887.1:p.Lys391Asn, XP_047289886.1:p.Lys533Asn, XP_047289884.1:p.Lys506Asn, XP_047289888.1:p.Lys506Asn, XP_047289891.1:p.Lys391Asn, XP_047289889.1:p.Lys506Asn, XP_047289890.1:p.Lys364Asn, XP_047289892.1:p.Lys391Asn, XP_047289897.1:p.Lys391Asn, XP_047289898.1:p.Lys375Asn, XP_047289899.1:p.Lys391Asn, XP_047289900.1:p.Lys364Asn

                                    18.

                                    rs1484631771 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      16:24790982 (GRCh38)
                                      16:24802303 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:24790981:A:C,NC_000016.10:24790981:A:G
                                      Gene:
                                      TNRC6A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000016.10:g.24790982A>C, NC_000016.10:g.24790982A>G, NC_000016.9:g.24802303A>C, NC_000016.9:g.24802303A>G, NW_021160019.1:g.41682A>C, NW_021160019.1:g.41682A>G, XM_005255257.5:c.1581A>C, XM_005255257.5:c.1581A>G, XM_005255257.4:c.1581A>C, XM_005255257.4:c.1581A>G, XM_005255257.3:c.1581A>C, XM_005255257.3:c.1581A>G, XM_005255257.2:c.1581A>C, XM_005255257.2:c.1581A>G, XM_005255257.1:c.1581A>C, XM_005255257.1:c.1581A>G, NM_014494.4:c.2340A>C, NM_014494.4:c.2340A>G, NM_014494.3:c.2340A>C, NM_014494.3:c.2340A>G, NM_014494.2:c.2340A>C, NM_014494.2:c.2340A>G, XM_017023144.3:c.2367A>C, XM_017023144.3:c.2367A>G, XM_017023144.2:c.2367A>C, XM_017023144.2:c.2367A>G, XM_017023144.1:c.2367A>C, XM_017023144.1:c.2367A>G, XM_017023145.3:c.2367A>C, XM_017023145.3:c.2367A>G, XM_017023145.2:c.2367A>C, XM_017023145.2:c.2367A>G, XM_017023145.1:c.2367A>C, XM_017023145.1:c.2367A>G, XM_017023148.3:c.2367A>C, XM_017023148.3:c.2367A>G, XM_017023148.2:c.2367A>C, XM_017023148.2:c.2367A>G, XM_017023148.1:c.2367A>C, XM_017023148.1:c.2367A>G, XM_017023150.3:c.2367A>C, XM_017023150.3:c.2367A>G, XM_017023150.2:c.2367A>C, XM_017023150.2:c.2367A>G, XM_017023150.1:c.2367A>C, XM_017023150.1:c.2367A>G, NM_001330520.3:c.2340A>C, NM_001330520.3:c.2340A>G, NM_001330520.2:c.2340A>C, NM_001330520.2:c.2340A>G, NM_001330520.1:c.2340A>C, NM_001330520.1:c.2340A>G, XM_017023152.3:c.1941A>C, XM_017023152.3:c.1941A>G, XM_017023152.2:c.1941A>C, XM_017023152.2:c.1941A>G, XM_017023152.1:c.1941A>C, XM_017023152.1:c.1941A>G, XM_024450231.2:c.2367A>C, XM_024450231.2:c.2367A>G, XM_024450231.1:c.2367A>C, XM_024450231.1:c.2367A>G, NM_001351850.2:c.2367A>C, NM_001351850.2:c.2367A>G, NM_001351850.1:c.2367A>C, NM_001351850.1:c.2367A>G, XM_024450232.2:c.2367A>C, XM_024450232.2:c.2367A>G, XM_024450232.1:c.2367A>C, XM_024450232.1:c.2367A>G, XM_017023146.2:c.2292A>C, XM_017023146.2:c.2292A>G, XM_017023146.1:c.2292A>C, XM_017023146.1:c.2292A>G, XM_017023153.2:c.1581A>C, XM_017023153.2:c.1581A>G, XM_017023153.1:c.1581A>C, XM_017023153.1:c.1581A>G, XM_024450233.2:c.2367A>C, XM_024450233.2:c.2367A>G, XM_024450233.1:c.2367A>C, XM_024450233.1:c.2367A>G, XM_047433910.1:c.2340A>C, XM_047433910.1:c.2340A>G, XM_047433914.1:c.2367A>C, XM_047433914.1:c.2367A>G, XM_047433918.1:c.2367A>C, XM_047433918.1:c.2367A>G, XM_047433939.1:c.1581A>C, XM_047433939.1:c.1581A>G, XM_047433940.1:c.1581A>C, XM_047433940.1:c.1581A>G, XM_047433912.1:c.2340A>C, XM_047433912.1:c.2340A>G, XM_047433913.1:c.2340A>C, XM_047433913.1:c.2340A>G, XM_047433911.1:c.2259A>C, XM_047433911.1:c.2259A>G, XM_047433922.1:c.2367A>C, XM_047433922.1:c.2367A>G, XM_047433915.1:c.2292A>C, XM_047433915.1:c.2292A>G, XM_047433916.1:c.2340A>C, XM_047433916.1:c.2340A>G, XM_047433917.1:c.2340A>C, XM_047433917.1:c.2340A>G, XM_047433924.1:c.2367A>C, XM_047433924.1:c.2367A>G, XM_047433920.1:c.2340A>C, XM_047433920.1:c.2340A>G, XM_047433927.1:c.2367A>C, XM_047433927.1:c.2367A>G, XM_047433937.1:c.1581A>C, XM_047433937.1:c.1581A>G, XM_047433938.1:c.1581A>C, XM_047433938.1:c.1581A>G, XM_047433921.1:c.2340A>C, XM_047433921.1:c.2340A>G, XM_047433919.1:c.2259A>C, XM_047433919.1:c.2259A>G, XM_047433923.1:c.2340A>C, XM_047433923.1:c.2340A>G, XM_047433925.1:c.2292A>C, XM_047433925.1:c.2292A>G, XM_047433926.1:c.2340A>C, XM_047433926.1:c.2340A>G, XM_047433929.1:c.2292A>C, XM_047433929.1:c.2292A>G, XM_047433931.1:c.1914A>C, XM_047433931.1:c.1914A>G, XM_047433930.1:c.2340A>C, XM_047433930.1:c.2340A>G, XM_047433928.1:c.2259A>C, XM_047433928.1:c.2259A>G, XM_047433932.1:c.2259A>C, XM_047433932.1:c.2259A>G, XM_047433935.1:c.1914A>C, XM_047433935.1:c.1914A>G, XM_047433933.1:c.2259A>C, XM_047433933.1:c.2259A>G, XM_047433934.1:c.1833A>C, XM_047433934.1:c.1833A>G, XM_047433936.1:c.1914A>C, XM_047433936.1:c.1914A>G, XM_047433941.1:c.1914A>C, XM_047433941.1:c.1914A>G, XM_047433942.1:c.1866A>C, XM_047433942.1:c.1866A>G, XM_047433943.1:c.1914A>C, XM_047433943.1:c.1914A>G, XM_047433944.1:c.1833A>C, XM_047433944.1:c.1833A>G, NM_020847.1:c.2340A>C, NM_020847.1:c.2340A>G

                                      19.

                                      rs1484151186 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        16:24823601 (GRCh38)
                                        16:24834922 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:24823600:A:C
                                        Gene:
                                        TNRC6A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.24823601A>C, NC_000016.9:g.24834922A>C, NW_021160019.1:g.74301A>C, XM_005255257.5:c.4924A>C, XM_005255257.4:c.4924A>C, XM_005255257.3:c.4924A>C, XM_005255257.2:c.4924A>C, XM_005255257.1:c.4924A>C, NM_014494.4:c.5683A>C, NM_014494.3:c.5683A>C, NM_014494.2:c.5683A>C, XM_017023144.3:c.5677A>C, XM_017023144.2:c.5677A>C, XM_017023144.1:c.5677A>C, XM_017023145.3:c.5641A>C, XM_017023145.2:c.5641A>C, XM_017023145.1:c.5641A>C, XM_017023148.3:c.5533A>C, XM_017023148.2:c.5533A>C, XM_017023148.1:c.5533A>C, XM_017023150.3:c.5494A>C, XM_017023150.2:c.5494A>C, XM_017023150.1:c.5494A>C, NM_001330520.3:c.5536A>C, NM_001330520.2:c.5536A>C, NM_001330520.1:c.5536A>C, XM_017023152.3:c.5284A>C, XM_017023152.2:c.5284A>C, XM_017023152.1:c.5284A>C, XM_024450231.2:c.5710A>C, XM_024450231.1:c.5710A>C, NM_001351850.2:c.5563A>C, NM_001351850.1:c.5563A>C, XM_024450232.2:c.5530A>C, XM_024450232.1:c.5530A>C, XM_017023146.2:c.5635A>C, XM_017023146.1:c.5635A>C, XM_017023153.2:c.4924A>C, XM_017023153.1:c.4924A>C, XM_024450233.2:c.5386A>C, XM_024450233.1:c.5386A>C, XM_047433910.1:c.5650A>C, XM_047433914.1:c.5500A>C, XM_047433918.1:c.5461A>C, XM_047433939.1:c.4924A>C, XM_047433940.1:c.4924A>C, XM_047433912.1:c.5506A>C, XM_047433913.1:c.5503A>C, XM_047433911.1:c.5602A>C, XM_047433922.1:c.5353A>C, XM_047433915.1:c.5488A>C, XM_047433916.1:c.5473A>C, XM_047433917.1:c.5467A>C, XM_047433924.1:c.5317A>C, XM_047433920.1:c.5434A>C, XM_047433927.1:c.5284A>C, XM_047433937.1:c.4924A>C, XM_047433938.1:c.4924A>C, XM_047433921.1:c.5359A>C, XM_047433919.1:c.5455A>C, XM_047433923.1:c.5326A>C, XM_047433925.1:c.5311A>C, XM_047433926.1:c.5290A>C, XM_047433929.1:c.5278A>C, XM_047433931.1:c.5257A>C, XM_047433930.1:c.5257A>C, XM_047433928.1:c.5278A>C, XM_047433932.1:c.5245A>C, XM_047433935.1:c.5110A>C, XM_047433933.1:c.5209A>C, XM_047433934.1:c.5176A>C, XM_047433936.1:c.4933A>C, XM_047433941.1:c.4900A>C, XM_047433942.1:c.4885A>C, XM_047433943.1:c.4864A>C, XM_047433944.1:c.4819A>C, NM_020847.1:c.5683A>C, XP_005255314.1:p.Thr1642Pro, NP_055309.2:p.Thr1895Pro, XP_016878633.1:p.Thr1893Pro, XP_016878634.1:p.Thr1881Pro, XP_016878637.1:p.Thr1845Pro, XP_016878639.1:p.Thr1832Pro, NP_001317449.1:p.Thr1846Pro, XP_016878641.1:p.Thr1762Pro, XP_024305999.1:p.Thr1904Pro, NP_001338779.1:p.Thr1855Pro, XP_024306000.1:p.Thr1844Pro, XP_016878635.1:p.Thr1879Pro, XP_016878642.1:p.Thr1642Pro, XP_024306001.1:p.Thr1796Pro, XP_047289866.1:p.Thr1884Pro, XP_047289870.1:p.Thr1834Pro, XP_047289874.1:p.Thr1821Pro, XP_047289895.1:p.Thr1642Pro, XP_047289896.1:p.Thr1642Pro, XP_047289868.1:p.Thr1836Pro, XP_047289869.1:p.Thr1835Pro, XP_047289867.1:p.Thr1868Pro, XP_047289878.1:p.Thr1785Pro, XP_047289871.1:p.Thr1830Pro, XP_047289872.1:p.Thr1825Pro, XP_047289873.1:p.Thr1823Pro, XP_047289880.1:p.Thr1773Pro, XP_047289876.1:p.Thr1812Pro, XP_047289883.1:p.Thr1762Pro, XP_047289893.1:p.Thr1642Pro, XP_047289894.1:p.Thr1642Pro, XP_047289877.1:p.Thr1787Pro, XP_047289875.1:p.Thr1819Pro, XP_047289879.1:p.Thr1776Pro, XP_047289881.1:p.Thr1771Pro, XP_047289882.1:p.Thr1764Pro, XP_047289885.1:p.Thr1760Pro, XP_047289887.1:p.Thr1753Pro, XP_047289886.1:p.Thr1753Pro, XP_047289884.1:p.Thr1760Pro, XP_047289888.1:p.Thr1749Pro, XP_047289891.1:p.Thr1704Pro, XP_047289889.1:p.Thr1737Pro, XP_047289890.1:p.Thr1726Pro, XP_047289892.1:p.Thr1645Pro, XP_047289897.1:p.Thr1634Pro, XP_047289898.1:p.Thr1629Pro, XP_047289899.1:p.Thr1622Pro, XP_047289900.1:p.Thr1607Pro

                                        20.

                                        rs1483647912 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:24791352 (GRCh38)
                                          16:24802673 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:24791351:C:T
                                          Gene:
                                          TNRC6A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000016.10:g.24791352C>T, NC_000016.9:g.24802673C>T, NW_021160019.1:g.42052C>T, XM_005255257.5:c.1951C>T, XM_005255257.4:c.1951C>T, XM_005255257.3:c.1951C>T, XM_005255257.2:c.1951C>T, XM_005255257.1:c.1951C>T, NM_014494.4:c.2710C>T, NM_014494.3:c.2710C>T, NM_014494.2:c.2710C>T, XM_017023144.3:c.2737C>T, XM_017023144.2:c.2737C>T, XM_017023144.1:c.2737C>T, XM_017023145.3:c.2737C>T, XM_017023145.2:c.2737C>T, XM_017023145.1:c.2737C>T, XM_017023148.3:c.2737C>T, XM_017023148.2:c.2737C>T, XM_017023148.1:c.2737C>T, XM_017023150.3:c.2737C>T, XM_017023150.2:c.2737C>T, XM_017023150.1:c.2737C>T, NM_001330520.3:c.2710C>T, NM_001330520.2:c.2710C>T, NM_001330520.1:c.2710C>T, XM_017023152.3:c.2311C>T, XM_017023152.2:c.2311C>T, XM_017023152.1:c.2311C>T, XM_024450231.2:c.2737C>T, XM_024450231.1:c.2737C>T, NM_001351850.2:c.2737C>T, NM_001351850.1:c.2737C>T, XM_024450232.2:c.2737C>T, XM_024450232.1:c.2737C>T, XM_017023146.2:c.2662C>T, XM_017023146.1:c.2662C>T, XM_017023153.2:c.1951C>T, XM_017023153.1:c.1951C>T, XM_024450233.2:c.2737C>T, XM_024450233.1:c.2737C>T, XM_047433910.1:c.2710C>T, XM_047433914.1:c.2737C>T, XM_047433918.1:c.2737C>T, XM_047433939.1:c.1951C>T, XM_047433940.1:c.1951C>T, XM_047433912.1:c.2710C>T, XM_047433913.1:c.2710C>T, XM_047433911.1:c.2629C>T, XM_047433922.1:c.2737C>T, XM_047433915.1:c.2662C>T, XM_047433916.1:c.2710C>T, XM_047433917.1:c.2710C>T, XM_047433924.1:c.2737C>T, XM_047433920.1:c.2710C>T, XM_047433927.1:c.2737C>T, XM_047433937.1:c.1951C>T, XM_047433938.1:c.1951C>T, XM_047433921.1:c.2710C>T, XM_047433919.1:c.2629C>T, XM_047433923.1:c.2710C>T, XM_047433925.1:c.2662C>T, XM_047433926.1:c.2710C>T, XM_047433929.1:c.2662C>T, XM_047433931.1:c.2284C>T, XM_047433930.1:c.2710C>T, XM_047433928.1:c.2629C>T, XM_047433932.1:c.2629C>T, XM_047433935.1:c.2284C>T, XM_047433933.1:c.2629C>T, XM_047433934.1:c.2203C>T, XM_047433936.1:c.2284C>T, XM_047433941.1:c.2284C>T, XM_047433942.1:c.2236C>T, XM_047433943.1:c.2284C>T, XM_047433944.1:c.2203C>T, NM_020847.1:c.2710C>T, XP_005255314.1:p.Pro651Ser, NP_055309.2:p.Pro904Ser, XP_016878633.1:p.Pro913Ser, XP_016878634.1:p.Pro913Ser, XP_016878637.1:p.Pro913Ser, XP_016878639.1:p.Pro913Ser, NP_001317449.1:p.Pro904Ser, XP_016878641.1:p.Pro771Ser, XP_024305999.1:p.Pro913Ser, NP_001338779.1:p.Pro913Ser, XP_024306000.1:p.Pro913Ser, XP_016878635.1:p.Pro888Ser, XP_016878642.1:p.Pro651Ser, XP_024306001.1:p.Pro913Ser, XP_047289866.1:p.Pro904Ser, XP_047289870.1:p.Pro913Ser, XP_047289874.1:p.Pro913Ser, XP_047289895.1:p.Pro651Ser, XP_047289896.1:p.Pro651Ser, XP_047289868.1:p.Pro904Ser, XP_047289869.1:p.Pro904Ser, XP_047289867.1:p.Pro877Ser, XP_047289878.1:p.Pro913Ser, XP_047289871.1:p.Pro888Ser, XP_047289872.1:p.Pro904Ser, XP_047289873.1:p.Pro904Ser, XP_047289880.1:p.Pro913Ser, XP_047289876.1:p.Pro904Ser, XP_047289883.1:p.Pro913Ser, XP_047289893.1:p.Pro651Ser, XP_047289894.1:p.Pro651Ser, XP_047289877.1:p.Pro904Ser, XP_047289875.1:p.Pro877Ser, XP_047289879.1:p.Pro904Ser, XP_047289881.1:p.Pro888Ser, XP_047289882.1:p.Pro904Ser, XP_047289885.1:p.Pro888Ser, XP_047289887.1:p.Pro762Ser, XP_047289886.1:p.Pro904Ser, XP_047289884.1:p.Pro877Ser, XP_047289888.1:p.Pro877Ser, XP_047289891.1:p.Pro762Ser, XP_047289889.1:p.Pro877Ser, XP_047289890.1:p.Pro735Ser, XP_047289892.1:p.Pro762Ser, XP_047289897.1:p.Pro762Ser, XP_047289898.1:p.Pro746Ser, XP_047289899.1:p.Pro762Ser, XP_047289900.1:p.Pro735Ser

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