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Items: 1 to 20 of 251

1.

rs1489361959 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    1:50200920 (GRCh38)
    1:50666592 (GRCh37)
    Canonical SPDI:
    NC_000001.11:50200919:T:A
    Gene:
    ELAVL4 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
    HGVS:
    NC_000001.11:g.50200920T>A, NC_000001.10:g.50666592T>A, NM_021952.5:c.885T>A, NM_021952.4:c.885T>A, NM_021952.3:c.885T>A, XM_011540895.4:c.882T>A, XM_011540895.3:c.882T>A, XM_011540895.2:c.882T>A, XM_011540895.1:c.882T>A, XM_006710411.4:c.924T>A, XM_006710411.3:c.924T>A, XM_006710411.2:c.924T>A, XM_006710411.1:c.924T>A, XM_011540889.4:c.993T>A, XM_011540889.3:c.993T>A, XM_011540889.2:c.993T>A, XM_011540889.1:c.993T>A, NM_001144774.3:c.843T>A, NM_001144774.2:c.843T>A, NM_001144774.1:c.843T>A, XM_011540894.3:c.882T>A, XM_011540894.2:c.882T>A, XM_011540894.1:c.882T>A, NM_001144775.3:c.951T>A, NM_001144775.2:c.951T>A, NM_001144775.1:c.894T>A, XM_011540893.3:c.885T>A, XM_011540893.2:c.885T>A, XM_011540893.1:c.885T>A, NM_001144777.3:c.852T>A, NM_001144777.2:c.852T>A, NM_001144777.1:c.852T>A, XM_011540890.3:c.912T>A, XM_011540890.2:c.912T>A, XM_011540890.1:c.912T>A, NM_001144776.3:c.843T>A, NM_001144776.2:c.843T>A, NM_001144776.1:c.843T>A, NM_001324212.2:c.840T>A, NM_001324212.1:c.840T>A, NM_001324209.2:c.801T>A, NM_001324209.1:c.801T>A, XM_024453822.2:c.879T>A, XM_024453822.1:c.879T>A, NM_001324214.2:c.840T>A, NM_001324214.1:c.840T>A, NM_001324213.2:c.900T>A, NM_001324213.1:c.900T>A, NM_001324208.2:c.894T>A, NM_001324208.1:c.894T>A, NM_001294348.2:c.858T>A, NM_001294348.1:c.858T>A, NM_001324215.2:c.819T>A, NM_001324215.1:c.819T>A, XM_024453825.1:c.840T>A, XM_017000538.1:c.882T>A, XM_024453829.1:c.804T>A, NM_001410787.1:c.804T>A
    2.

    rs1484366574 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      1:50195650 (GRCh38)
      1:50661322 (GRCh37)
      Canonical SPDI:
      NC_000001.11:50195649:G:A,NC_000001.11:50195649:G:C
      Gene:
      ELAVL4 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.50195650G>A, NC_000001.11:g.50195650G>C, NC_000001.10:g.50661322G>A, NC_000001.10:g.50661322G>C, NM_021952.5:c.598G>A, NM_021952.5:c.598G>C, NM_021952.4:c.598G>A, NM_021952.4:c.598G>C, NM_021952.3:c.598G>A, NM_021952.3:c.598G>C, XM_011540895.4:c.595G>A, XM_011540895.4:c.595G>C, XM_011540895.3:c.595G>A, XM_011540895.3:c.595G>C, XM_011540895.2:c.595G>A, XM_011540895.2:c.595G>C, XM_011540895.1:c.595G>A, XM_011540895.1:c.595G>C, XM_006710411.4:c.637G>A, XM_006710411.4:c.637G>C, XM_006710411.3:c.637G>A, XM_006710411.3:c.637G>C, XM_006710411.2:c.637G>A, XM_006710411.2:c.637G>C, XM_006710411.1:c.637G>A, XM_006710411.1:c.637G>C, XM_011540889.4:c.706G>A, XM_011540889.4:c.706G>C, XM_011540889.3:c.706G>A, XM_011540889.3:c.706G>C, XM_011540889.2:c.706G>A, XM_011540889.2:c.706G>C, XM_011540889.1:c.706G>A, XM_011540889.1:c.706G>C, NM_001144774.3:c.598G>A, NM_001144774.3:c.598G>C, NM_001144774.2:c.598G>A, NM_001144774.2:c.598G>C, NM_001144774.1:c.598G>A, NM_001144774.1:c.598G>C, XM_011540894.3:c.595G>A, XM_011540894.3:c.595G>C, XM_011540894.2:c.595G>A, XM_011540894.2:c.595G>C, XM_011540894.1:c.595G>A, XM_011540894.1:c.595G>C, NM_001144775.3:c.706G>A, NM_001144775.3:c.706G>C, NM_001144775.2:c.706G>A, NM_001144775.2:c.706G>C, NM_001144775.1:c.649G>A, NM_001144775.1:c.649G>C, XM_011540893.3:c.598G>A, XM_011540893.3:c.598G>C, XM_011540893.2:c.598G>A, XM_011540893.2:c.598G>C, XM_011540893.1:c.598G>A, XM_011540893.1:c.598G>C, NM_001144777.3:c.607G>A, NM_001144777.3:c.607G>C, NM_001144777.2:c.607G>A, NM_001144777.2:c.607G>C, NM_001144777.1:c.607G>A, NM_001144777.1:c.607G>C, XM_011540890.3:c.706G>A, XM_011540890.3:c.706G>C, XM_011540890.2:c.706G>A, XM_011540890.2:c.706G>C, XM_011540890.1:c.706G>A, XM_011540890.1:c.706G>C, NM_001144776.3:c.598G>A, NM_001144776.3:c.598G>C, NM_001144776.2:c.598G>A, NM_001144776.2:c.598G>C, NM_001144776.1:c.598G>A, NM_001144776.1:c.598G>C, NM_001324212.2:c.595G>A, NM_001324212.2:c.595G>C, NM_001324212.1:c.595G>A, NM_001324212.1:c.595G>C, NM_001324209.2:c.595G>A, NM_001324209.2:c.595G>C, NM_001324209.1:c.595G>A, NM_001324209.1:c.595G>C, XM_024453822.2:c.634G>A, XM_024453822.2:c.634G>C, XM_024453822.1:c.634G>A, XM_024453822.1:c.634G>C, NM_001324214.2:c.595G>A, NM_001324214.2:c.595G>C, NM_001324214.1:c.595G>A, NM_001324214.1:c.595G>C, NM_001324213.2:c.613G>A, NM_001324213.2:c.613G>C, NM_001324213.1:c.613G>A, NM_001324213.1:c.613G>C, NM_001324208.2:c.607G>A, NM_001324208.2:c.607G>C, NM_001324208.1:c.607G>A, NM_001324208.1:c.607G>C, NM_001294348.2:c.613G>A, NM_001294348.2:c.613G>C, NM_001294348.1:c.613G>A, NM_001294348.1:c.613G>C, NM_001324215.2:c.613G>A, NM_001324215.2:c.613G>C, NM_001324215.1:c.613G>A, NM_001324215.1:c.613G>C, XM_024453825.1:c.595G>A, XM_024453825.1:c.595G>C, XM_017000538.1:c.637G>A, XM_017000538.1:c.637G>C, XM_024453829.1:c.598G>A, XM_024453829.1:c.598G>C, NM_001410787.1:c.598G>A, NM_001410787.1:c.598G>C, NP_068771.2:p.Gly200Ser, NP_068771.2:p.Gly200Arg, XP_011539197.1:p.Gly199Ser, XP_011539197.1:p.Gly199Arg, XP_006710474.1:p.Gly213Ser, XP_006710474.1:p.Gly213Arg, XP_011539191.1:p.Gly236Ser, XP_011539191.1:p.Gly236Arg, NP_001138246.1:p.Gly200Ser, NP_001138246.1:p.Gly200Arg, XP_011539196.1:p.Gly199Ser, XP_011539196.1:p.Gly199Arg, NP_001138247.2:p.Gly236Ser, NP_001138247.2:p.Gly236Arg, XP_011539195.1:p.Gly200Ser, XP_011539195.1:p.Gly200Arg, NP_001138249.1:p.Gly203Ser, NP_001138249.1:p.Gly203Arg, XP_011539192.1:p.Gly236Ser, XP_011539192.1:p.Gly236Arg, NP_001138248.1:p.Gly200Ser, NP_001138248.1:p.Gly200Arg, NP_001311141.1:p.Gly199Ser, NP_001311141.1:p.Gly199Arg, NP_001311138.1:p.Gly199Ser, NP_001311138.1:p.Gly199Arg, XP_024309590.1:p.Gly212Ser, XP_024309590.1:p.Gly212Arg, NP_001311143.1:p.Gly199Ser, NP_001311143.1:p.Gly199Arg, NP_001311142.1:p.Gly205Ser, NP_001311142.1:p.Gly205Arg, NP_001311137.1:p.Gly203Ser, NP_001311137.1:p.Gly203Arg, NP_001281277.1:p.Gly205Ser, NP_001281277.1:p.Gly205Arg, NP_001311144.1:p.Gly205Ser, NP_001311144.1:p.Gly205Arg, XP_024309593.1:p.Gly199Ser, XP_024309593.1:p.Gly199Arg, XP_016856027.1:p.Gly213Ser, XP_016856027.1:p.Gly213Arg, XP_024309597.1:p.Gly200Ser, XP_024309597.1:p.Gly200Arg
      3.

      rs1484010153 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:50195628 (GRCh38)
        1:50661300 (GRCh37)
        Canonical SPDI:
        NC_000001.11:50195627:G:A
        Gene:
        ELAVL4 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
        HGVS:
        NC_000001.11:g.50195628G>A, NC_000001.10:g.50661300G>A, NM_021952.5:c.576G>A, NM_021952.4:c.576G>A, NM_021952.3:c.576G>A, XM_011540895.4:c.573G>A, XM_011540895.3:c.573G>A, XM_011540895.2:c.573G>A, XM_011540895.1:c.573G>A, XM_006710411.4:c.615G>A, XM_006710411.3:c.615G>A, XM_006710411.2:c.615G>A, XM_006710411.1:c.615G>A, XM_011540889.4:c.684G>A, XM_011540889.3:c.684G>A, XM_011540889.2:c.684G>A, XM_011540889.1:c.684G>A, NM_001144774.3:c.576G>A, NM_001144774.2:c.576G>A, NM_001144774.1:c.576G>A, XM_011540894.3:c.573G>A, XM_011540894.2:c.573G>A, XM_011540894.1:c.573G>A, NM_001144775.3:c.684G>A, NM_001144775.2:c.684G>A, NM_001144775.1:c.627G>A, XM_011540893.3:c.576G>A, XM_011540893.2:c.576G>A, XM_011540893.1:c.576G>A, NM_001144777.3:c.585G>A, NM_001144777.2:c.585G>A, NM_001144777.1:c.585G>A, XM_011540890.3:c.684G>A, XM_011540890.2:c.684G>A, XM_011540890.1:c.684G>A, NM_001144776.3:c.576G>A, NM_001144776.2:c.576G>A, NM_001144776.1:c.576G>A, NM_001324212.2:c.573G>A, NM_001324212.1:c.573G>A, NM_001324209.2:c.573G>A, NM_001324209.1:c.573G>A, XM_024453822.2:c.612G>A, XM_024453822.1:c.612G>A, NM_001324214.2:c.573G>A, NM_001324214.1:c.573G>A, NM_001324213.2:c.591G>A, NM_001324213.1:c.591G>A, NM_001324208.2:c.585G>A, NM_001324208.1:c.585G>A, NM_001294348.2:c.591G>A, NM_001294348.1:c.591G>A, NM_001324215.2:c.591G>A, NM_001324215.1:c.591G>A, XM_024453825.1:c.573G>A, XM_017000538.1:c.615G>A, XM_024453829.1:c.576G>A, NM_001410787.1:c.576G>A
        4.

        rs1474322779 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:50145111 (GRCh38)
          1:50610783 (GRCh37)
          Canonical SPDI:
          NC_000001.11:50145110:A:G
          Gene:
          ELAVL4 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.50145111A>G, NC_000001.10:g.50610783A>G, NM_021952.5:c.164A>G, NM_021952.4:c.164A>G, NM_021952.3:c.164A>G, XM_011540895.4:c.161A>G, XM_011540895.3:c.161A>G, XM_011540895.2:c.161A>G, XM_011540895.1:c.161A>G, XM_006710411.4:c.203A>G, XM_006710411.3:c.203A>G, XM_006710411.2:c.203A>G, XM_006710411.1:c.203A>G, XM_011540889.4:c.272A>G, XM_011540889.3:c.272A>G, XM_011540889.2:c.272A>G, XM_011540889.1:c.272A>G, NM_001144774.3:c.164A>G, NM_001144774.2:c.164A>G, NM_001144774.1:c.164A>G, XM_011540894.3:c.161A>G, XM_011540894.2:c.161A>G, XM_011540894.1:c.161A>G, NM_001144775.3:c.272A>G, NM_001144775.2:c.272A>G, NM_001144775.1:c.215A>G, XM_011540893.3:c.164A>G, XM_011540893.2:c.164A>G, XM_011540893.1:c.164A>G, NM_001144777.3:c.173A>G, NM_001144777.2:c.173A>G, NM_001144777.1:c.173A>G, XM_011540890.3:c.272A>G, XM_011540890.2:c.272A>G, XM_011540890.1:c.272A>G, NM_001144776.3:c.164A>G, NM_001144776.2:c.164A>G, NM_001144776.1:c.164A>G, NM_001324212.2:c.161A>G, NM_001324212.1:c.161A>G, NM_001324209.2:c.161A>G, NM_001324209.1:c.161A>G, XM_024453822.2:c.200A>G, XM_024453822.1:c.200A>G, NM_001324214.2:c.161A>G, NM_001324214.1:c.161A>G, NM_001324213.2:c.179A>G, NM_001324213.1:c.179A>G, NM_001324208.2:c.173A>G, NM_001324208.1:c.173A>G, NM_001294348.2:c.179A>G, NM_001294348.1:c.179A>G, NM_001324215.2:c.179A>G, NM_001324215.1:c.179A>G, XM_017000541.2:c.203A>G, XM_017000541.1:c.203A>G, NR_136725.2:n.374A>G, NR_136725.1:n.591A>G, XM_017000540.2:c.272A>G, XM_017000540.1:c.272A>G, NM_001324217.2:c.179A>G, NM_001324217.1:c.179A>G, XM_024453825.1:c.161A>G, XM_017000538.1:c.203A>G, XM_024453829.1:c.164A>G, NM_001410787.1:c.164A>G, NM_001324216.1:c.164A>G, XM_017000542.1:c.173A>G, XM_047448337.1:c.164A>G, NP_068771.2:p.Gln55Arg, XP_011539197.1:p.Gln54Arg, XP_006710474.1:p.Gln68Arg, XP_011539191.1:p.Gln91Arg, NP_001138246.1:p.Gln55Arg, XP_011539196.1:p.Gln54Arg, NP_001138247.2:p.Gln91Arg, XP_011539195.1:p.Gln55Arg, NP_001138249.1:p.Gln58Arg, XP_011539192.1:p.Gln91Arg, NP_001138248.1:p.Gln55Arg, NP_001311141.1:p.Gln54Arg, NP_001311138.1:p.Gln54Arg, XP_024309590.1:p.Gln67Arg, NP_001311143.1:p.Gln54Arg, NP_001311142.1:p.Gln60Arg, NP_001311137.1:p.Gln58Arg, NP_001281277.1:p.Gln60Arg, NP_001311144.1:p.Gln60Arg, XP_016856030.1:p.Gln68Arg, XP_016856029.1:p.Gln91Arg, NP_001311146.1:p.Gln60Arg, XP_024309593.1:p.Gln54Arg, XP_016856027.1:p.Gln68Arg, XP_024309597.1:p.Gln55Arg, NP_001311145.1:p.Gln55Arg, XP_016856031.1:p.Gln58Arg, XP_047304293.1:p.Gln55Arg
          5.

          rs1469105007 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:50177187 (GRCh38)
            1:50642859 (GRCh37)
            Canonical SPDI:
            NC_000001.11:50177186:A:G
            Gene:
            ELAVL4 (Varview), ELAVL4-AS1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000008/2 (TOPMED)
            HGVS:
            NC_000001.11:g.50177187A>G, NC_000001.10:g.50642859A>G, NM_021952.5:c.349A>G, NM_021952.4:c.349A>G, NM_021952.3:c.349A>G, XM_011540895.4:c.346A>G, XM_011540895.3:c.346A>G, XM_011540895.2:c.346A>G, XM_011540895.1:c.346A>G, XM_006710411.4:c.388A>G, XM_006710411.3:c.388A>G, XM_006710411.2:c.388A>G, XM_006710411.1:c.388A>G, XM_011540889.4:c.457A>G, XM_011540889.3:c.457A>G, XM_011540889.2:c.457A>G, XM_011540889.1:c.457A>G, NM_001144774.3:c.349A>G, NM_001144774.2:c.349A>G, NM_001144774.1:c.349A>G, XM_011540894.3:c.346A>G, XM_011540894.2:c.346A>G, XM_011540894.1:c.346A>G, NM_001144775.3:c.457A>G, NM_001144775.2:c.457A>G, NM_001144775.1:c.400A>G, XM_011540893.3:c.349A>G, XM_011540893.2:c.349A>G, XM_011540893.1:c.349A>G, NM_001144777.3:c.358A>G, NM_001144777.2:c.358A>G, NM_001144777.1:c.358A>G, XM_011540890.3:c.457A>G, XM_011540890.2:c.457A>G, XM_011540890.1:c.457A>G, NM_001144776.3:c.349A>G, NM_001144776.2:c.349A>G, NM_001144776.1:c.349A>G, NM_001324212.2:c.346A>G, NM_001324212.1:c.346A>G, NM_001324209.2:c.346A>G, NM_001324209.1:c.346A>G, XM_024453822.2:c.385A>G, XM_024453822.1:c.385A>G, NM_001324214.2:c.346A>G, NM_001324214.1:c.346A>G, NM_001324213.2:c.364A>G, NM_001324213.1:c.364A>G, NM_001324208.2:c.358A>G, NM_001324208.1:c.358A>G, NM_001294348.2:c.364A>G, NM_001294348.1:c.364A>G, NM_001324215.2:c.364A>G, NM_001324215.1:c.364A>G, XM_017000541.2:c.388A>G, XM_017000541.1:c.388A>G, NR_136725.2:n.559A>G, NR_136725.1:n.776A>G, XM_017000540.2:c.457A>G, XM_017000540.1:c.457A>G, NM_001324217.2:c.364A>G, NM_001324217.1:c.364A>G, XM_024453825.1:c.346A>G, XM_017000538.1:c.388A>G, XM_024453829.1:c.349A>G, NM_001410787.1:c.349A>G, NM_001324216.1:c.349A>G, XM_017000542.1:c.358A>G, XM_047448337.1:c.349A>G, NP_068771.2:p.Ile117Val, XP_011539197.1:p.Ile116Val, XP_006710474.1:p.Ile130Val, XP_011539191.1:p.Ile153Val, NP_001138246.1:p.Ile117Val, XP_011539196.1:p.Ile116Val, NP_001138247.2:p.Ile153Val, XP_011539195.1:p.Ile117Val, NP_001138249.1:p.Ile120Val, XP_011539192.1:p.Ile153Val, NP_001138248.1:p.Ile117Val, NP_001311141.1:p.Ile116Val, NP_001311138.1:p.Ile116Val, XP_024309590.1:p.Ile129Val, NP_001311143.1:p.Ile116Val, NP_001311142.1:p.Ile122Val, NP_001311137.1:p.Ile120Val, NP_001281277.1:p.Ile122Val, NP_001311144.1:p.Ile122Val, XP_016856030.1:p.Ile130Val, XP_016856029.1:p.Ile153Val, NP_001311146.1:p.Ile122Val, XP_024309593.1:p.Ile116Val, XP_016856027.1:p.Ile130Val, XP_024309597.1:p.Ile117Val, NP_001311145.1:p.Ile117Val, XP_016856031.1:p.Ile120Val, XP_047304293.1:p.Ile117Val
            6.

            rs1460314684 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              1:50195752 (GRCh38)
              1:50661424 (GRCh37)
              Canonical SPDI:
              NC_000001.11:50195751:C:G
              Gene:
              ELAVL4 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000001.11:g.50195752C>G, NC_000001.10:g.50661424C>G, NM_021952.5:c.700C>G, NM_021952.4:c.700C>G, NM_021952.3:c.700C>G, XM_011540895.4:c.697C>G, XM_011540895.3:c.697C>G, XM_011540895.2:c.697C>G, XM_011540895.1:c.697C>G, XM_006710411.4:c.739C>G, XM_006710411.3:c.739C>G, XM_006710411.2:c.739C>G, XM_006710411.1:c.739C>G, XM_011540889.4:c.808C>G, XM_011540889.3:c.808C>G, XM_011540889.2:c.808C>G, XM_011540889.1:c.808C>G, NM_001144774.3:c.700C>G, NM_001144774.2:c.700C>G, NM_001144774.1:c.700C>G, XM_011540894.3:c.697C>G, XM_011540894.2:c.697C>G, XM_011540894.1:c.697C>G, NM_001144775.3:c.808C>G, NM_001144775.2:c.808C>G, NM_001144775.1:c.751C>G, XM_011540893.3:c.700C>G, XM_011540893.2:c.700C>G, XM_011540893.1:c.700C>G, NM_001144777.3:c.709C>G, NM_001144777.2:c.709C>G, NM_001144777.1:c.709C>G, XM_011540890.3:c.808C>G, XM_011540890.2:c.808C>G, XM_011540890.1:c.808C>G, NM_001144776.3:c.700C>G, NM_001144776.2:c.700C>G, NM_001144776.1:c.700C>G, NM_001324212.2:c.697C>G, NM_001324212.1:c.697C>G, NM_001324209.2:c.697C>G, NM_001324209.1:c.697C>G, XM_024453822.2:c.736C>G, XM_024453822.1:c.736C>G, NM_001324214.2:c.697C>G, NM_001324214.1:c.697C>G, NM_001324213.2:c.715C>G, NM_001324213.1:c.715C>G, NM_001324208.2:c.709C>G, NM_001324208.1:c.709C>G, NM_001294348.2:c.715C>G, NM_001294348.1:c.715C>G, NM_001324215.2:c.715C>G, NM_001324215.1:c.715C>G, XM_024453825.1:c.697C>G, XM_017000538.1:c.739C>G, XM_024453829.1:c.700C>G, NM_001410787.1:c.700C>G, NP_068771.2:p.Pro234Ala, XP_011539197.1:p.Pro233Ala, XP_006710474.1:p.Pro247Ala, XP_011539191.1:p.Pro270Ala, NP_001138246.1:p.Pro234Ala, XP_011539196.1:p.Pro233Ala, NP_001138247.2:p.Pro270Ala, XP_011539195.1:p.Pro234Ala, NP_001138249.1:p.Pro237Ala, XP_011539192.1:p.Pro270Ala, NP_001138248.1:p.Pro234Ala, NP_001311141.1:p.Pro233Ala, NP_001311138.1:p.Pro233Ala, XP_024309590.1:p.Pro246Ala, NP_001311143.1:p.Pro233Ala, NP_001311142.1:p.Pro239Ala, NP_001311137.1:p.Pro237Ala, NP_001281277.1:p.Pro239Ala, NP_001311144.1:p.Pro239Ala, XP_024309593.1:p.Pro233Ala, XP_016856027.1:p.Pro247Ala, XP_024309597.1:p.Pro234Ala
              7.

              rs1459326800 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:50145146 (GRCh38)
                1:50610818 (GRCh37)
                Canonical SPDI:
                NC_000001.11:50145145:G:A
                Gene:
                ELAVL4 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000001.11:g.50145146G>A, NC_000001.10:g.50610818G>A, NM_021952.5:c.199G>A, NM_021952.4:c.199G>A, NM_021952.3:c.199G>A, XM_011540895.4:c.196G>A, XM_011540895.3:c.196G>A, XM_011540895.2:c.196G>A, XM_011540895.1:c.196G>A, XM_006710411.4:c.238G>A, XM_006710411.3:c.238G>A, XM_006710411.2:c.238G>A, XM_006710411.1:c.238G>A, XM_011540889.4:c.307G>A, XM_011540889.3:c.307G>A, XM_011540889.2:c.307G>A, XM_011540889.1:c.307G>A, NM_001144774.3:c.199G>A, NM_001144774.2:c.199G>A, NM_001144774.1:c.199G>A, XM_011540894.3:c.196G>A, XM_011540894.2:c.196G>A, XM_011540894.1:c.196G>A, NM_001144775.3:c.307G>A, NM_001144775.2:c.307G>A, NM_001144775.1:c.250G>A, XM_011540893.3:c.199G>A, XM_011540893.2:c.199G>A, XM_011540893.1:c.199G>A, NM_001144777.3:c.208G>A, NM_001144777.2:c.208G>A, NM_001144777.1:c.208G>A, XM_011540890.3:c.307G>A, XM_011540890.2:c.307G>A, XM_011540890.1:c.307G>A, NM_001144776.3:c.199G>A, NM_001144776.2:c.199G>A, NM_001144776.1:c.199G>A, NM_001324212.2:c.196G>A, NM_001324212.1:c.196G>A, NM_001324209.2:c.196G>A, NM_001324209.1:c.196G>A, XM_024453822.2:c.235G>A, XM_024453822.1:c.235G>A, NM_001324214.2:c.196G>A, NM_001324214.1:c.196G>A, NM_001324213.2:c.214G>A, NM_001324213.1:c.214G>A, NM_001324208.2:c.208G>A, NM_001324208.1:c.208G>A, NM_001294348.2:c.214G>A, NM_001294348.1:c.214G>A, NM_001324215.2:c.214G>A, NM_001324215.1:c.214G>A, XM_017000541.2:c.238G>A, XM_017000541.1:c.238G>A, NR_136725.2:n.409G>A, NR_136725.1:n.626G>A, XM_017000540.2:c.307G>A, XM_017000540.1:c.307G>A, NM_001324217.2:c.214G>A, NM_001324217.1:c.214G>A, XM_024453825.1:c.196G>A, XM_017000538.1:c.238G>A, XM_024453829.1:c.199G>A, NM_001410787.1:c.199G>A, NM_001324216.1:c.199G>A, XM_017000542.1:c.208G>A, XM_047448337.1:c.199G>A, NP_068771.2:p.Gly67Arg, XP_011539197.1:p.Gly66Arg, XP_006710474.1:p.Gly80Arg, XP_011539191.1:p.Gly103Arg, NP_001138246.1:p.Gly67Arg, XP_011539196.1:p.Gly66Arg, NP_001138247.2:p.Gly103Arg, XP_011539195.1:p.Gly67Arg, NP_001138249.1:p.Gly70Arg, XP_011539192.1:p.Gly103Arg, NP_001138248.1:p.Gly67Arg, NP_001311141.1:p.Gly66Arg, NP_001311138.1:p.Gly66Arg, XP_024309590.1:p.Gly79Arg, NP_001311143.1:p.Gly66Arg, NP_001311142.1:p.Gly72Arg, NP_001311137.1:p.Gly70Arg, NP_001281277.1:p.Gly72Arg, NP_001311144.1:p.Gly72Arg, XP_016856030.1:p.Gly80Arg, XP_016856029.1:p.Gly103Arg, NP_001311146.1:p.Gly72Arg, XP_024309593.1:p.Gly66Arg, XP_016856027.1:p.Gly80Arg, XP_024309597.1:p.Gly67Arg, NP_001311145.1:p.Gly67Arg, XP_016856031.1:p.Gly70Arg, XP_047304293.1:p.Gly67Arg
                8.

                rs1458930048 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:50193871 (GRCh38)
                  1:50659543 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:50193870:A:G
                  Gene:
                  ELAVL4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.50193871A>G, NC_000001.10:g.50659543A>G, NM_021952.5:c.461A>G, NM_021952.4:c.461A>G, NM_021952.3:c.461A>G, XM_011540895.4:c.458A>G, XM_011540895.3:c.458A>G, XM_011540895.2:c.458A>G, XM_011540895.1:c.458A>G, XM_006710411.4:c.500A>G, XM_006710411.3:c.500A>G, XM_006710411.2:c.500A>G, XM_006710411.1:c.500A>G, XM_011540889.4:c.569A>G, XM_011540889.3:c.569A>G, XM_011540889.2:c.569A>G, XM_011540889.1:c.569A>G, NM_001144774.3:c.461A>G, NM_001144774.2:c.461A>G, NM_001144774.1:c.461A>G, XM_011540894.3:c.458A>G, XM_011540894.2:c.458A>G, XM_011540894.1:c.458A>G, NM_001144775.3:c.569A>G, NM_001144775.2:c.569A>G, NM_001144775.1:c.512A>G, XM_011540893.3:c.461A>G, XM_011540893.2:c.461A>G, XM_011540893.1:c.461A>G, NM_001144777.3:c.470A>G, NM_001144777.2:c.470A>G, NM_001144777.1:c.470A>G, XM_011540890.3:c.569A>G, XM_011540890.2:c.569A>G, XM_011540890.1:c.569A>G, NM_001144776.3:c.461A>G, NM_001144776.2:c.461A>G, NM_001144776.1:c.461A>G, NM_001324212.2:c.458A>G, NM_001324212.1:c.458A>G, NM_001324209.2:c.458A>G, NM_001324209.1:c.458A>G, XM_024453822.2:c.497A>G, XM_024453822.1:c.497A>G, NM_001324214.2:c.458A>G, NM_001324214.1:c.458A>G, NM_001324213.2:c.476A>G, NM_001324213.1:c.476A>G, NM_001324208.2:c.470A>G, NM_001324208.1:c.470A>G, NM_001294348.2:c.476A>G, NM_001294348.1:c.476A>G, NM_001324215.2:c.476A>G, NM_001324215.1:c.476A>G, XM_024453825.1:c.458A>G, XM_017000538.1:c.500A>G, XM_024453829.1:c.461A>G, NM_001410787.1:c.461A>G, NP_068771.2:p.Gln154Arg, XP_011539197.1:p.Gln153Arg, XP_006710474.1:p.Gln167Arg, XP_011539191.1:p.Gln190Arg, NP_001138246.1:p.Gln154Arg, XP_011539196.1:p.Gln153Arg, NP_001138247.2:p.Gln190Arg, XP_011539195.1:p.Gln154Arg, NP_001138249.1:p.Gln157Arg, XP_011539192.1:p.Gln190Arg, NP_001138248.1:p.Gln154Arg, NP_001311141.1:p.Gln153Arg, NP_001311138.1:p.Gln153Arg, XP_024309590.1:p.Gln166Arg, NP_001311143.1:p.Gln153Arg, NP_001311142.1:p.Gln159Arg, NP_001311137.1:p.Gln157Arg, NP_001281277.1:p.Gln159Arg, NP_001311144.1:p.Gln159Arg, XP_024309593.1:p.Gln153Arg, XP_016856027.1:p.Gln167Arg, XP_024309597.1:p.Gln154Arg
                  9.

                  rs1457688823 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:50195727 (GRCh38)
                    1:50661399 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:50195726:C:T
                    Gene:
                    ELAVL4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000001.11:g.50195727C>T, NC_000001.10:g.50661399C>T, NM_021952.5:c.675C>T, NM_021952.4:c.675C>T, NM_021952.3:c.675C>T, XM_011540895.4:c.672C>T, XM_011540895.3:c.672C>T, XM_011540895.2:c.672C>T, XM_011540895.1:c.672C>T, XM_006710411.4:c.714C>T, XM_006710411.3:c.714C>T, XM_006710411.2:c.714C>T, XM_006710411.1:c.714C>T, XM_011540889.4:c.783C>T, XM_011540889.3:c.783C>T, XM_011540889.2:c.783C>T, XM_011540889.1:c.783C>T, NM_001144774.3:c.675C>T, NM_001144774.2:c.675C>T, NM_001144774.1:c.675C>T, XM_011540894.3:c.672C>T, XM_011540894.2:c.672C>T, XM_011540894.1:c.672C>T, NM_001144775.3:c.783C>T, NM_001144775.2:c.783C>T, NM_001144775.1:c.726C>T, XM_011540893.3:c.675C>T, XM_011540893.2:c.675C>T, XM_011540893.1:c.675C>T, NM_001144777.3:c.684C>T, NM_001144777.2:c.684C>T, NM_001144777.1:c.684C>T, XM_011540890.3:c.783C>T, XM_011540890.2:c.783C>T, XM_011540890.1:c.783C>T, NM_001144776.3:c.675C>T, NM_001144776.2:c.675C>T, NM_001144776.1:c.675C>T, NM_001324212.2:c.672C>T, NM_001324212.1:c.672C>T, NM_001324209.2:c.672C>T, NM_001324209.1:c.672C>T, XM_024453822.2:c.711C>T, XM_024453822.1:c.711C>T, NM_001324214.2:c.672C>T, NM_001324214.1:c.672C>T, NM_001324213.2:c.690C>T, NM_001324213.1:c.690C>T, NM_001324208.2:c.684C>T, NM_001324208.1:c.684C>T, NM_001294348.2:c.690C>T, NM_001294348.1:c.690C>T, NM_001324215.2:c.690C>T, NM_001324215.1:c.690C>T, XM_024453825.1:c.672C>T, XM_017000538.1:c.714C>T, XM_024453829.1:c.675C>T, NM_001410787.1:c.675C>T
                    10.

                    rs1454126571 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:50201121 (GRCh38)
                      1:50666793 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:50201120:C:T
                      Gene:
                      ELAVL4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.50201121C>T, NC_000001.10:g.50666793C>T, NM_021952.5:c.1086C>T, NM_021952.4:c.1086C>T, NM_021952.3:c.1086C>T, XM_011540895.4:c.1083C>T, XM_011540895.3:c.1083C>T, XM_011540895.2:c.1083C>T, XM_011540895.1:c.1083C>T, XM_006710411.4:c.1125C>T, XM_006710411.3:c.1125C>T, XM_006710411.2:c.1125C>T, XM_006710411.1:c.1125C>T, XM_011540889.4:c.1194C>T, XM_011540889.3:c.1194C>T, XM_011540889.2:c.1194C>T, XM_011540889.1:c.1194C>T, NM_001144774.3:c.1044C>T, NM_001144774.2:c.1044C>T, NM_001144774.1:c.1044C>T, XM_011540894.3:c.1083C>T, XM_011540894.2:c.1083C>T, XM_011540894.1:c.1083C>T, NM_001144775.3:c.1152C>T, NM_001144775.2:c.1152C>T, NM_001144775.1:c.1095C>T, XM_011540893.3:c.1086C>T, XM_011540893.2:c.1086C>T, XM_011540893.1:c.1086C>T, NM_001144777.3:c.1053C>T, NM_001144777.2:c.1053C>T, NM_001144777.1:c.1053C>T, XM_011540890.3:c.1113C>T, XM_011540890.2:c.1113C>T, XM_011540890.1:c.1113C>T, NM_001144776.3:c.1044C>T, NM_001144776.2:c.1044C>T, NM_001144776.1:c.1044C>T, NM_001324212.2:c.1041C>T, NM_001324212.1:c.1041C>T, NM_001324209.2:c.1002C>T, NM_001324209.1:c.1002C>T, XM_024453822.2:c.1080C>T, XM_024453822.1:c.1080C>T, NM_001324214.2:c.1041C>T, NM_001324214.1:c.1041C>T, NM_001324213.2:c.1101C>T, NM_001324213.1:c.1101C>T, NM_001324208.2:c.1095C>T, NM_001324208.1:c.1095C>T, NM_001294348.2:c.1059C>T, NM_001294348.1:c.1059C>T, NM_001324215.2:c.1020C>T, NM_001324215.1:c.1020C>T, XM_024453825.1:c.1041C>T, XM_017000538.1:c.1083C>T, XM_024453829.1:c.1005C>T, NM_001410787.1:c.1005C>T
                      11.

                      rs1446048734 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:50145033 (GRCh38)
                        1:50610705 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:50145032:G:A
                        Gene:
                        ELAVL4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        NC_000001.11:g.50145033G>A, NC_000001.10:g.50610705G>A, NM_021952.5:c.86G>A, NM_021952.4:c.86G>A, NM_021952.3:c.86G>A, XM_011540895.4:c.83G>A, XM_011540895.3:c.83G>A, XM_011540895.2:c.83G>A, XM_011540895.1:c.83G>A, XM_006710411.4:c.125G>A, XM_006710411.3:c.125G>A, XM_006710411.2:c.125G>A, XM_006710411.1:c.125G>A, XM_011540889.4:c.194G>A, XM_011540889.3:c.194G>A, XM_011540889.2:c.194G>A, XM_011540889.1:c.194G>A, NM_001144774.3:c.86G>A, NM_001144774.2:c.86G>A, NM_001144774.1:c.86G>A, XM_011540894.3:c.83G>A, XM_011540894.2:c.83G>A, XM_011540894.1:c.83G>A, NM_001144775.3:c.194G>A, NM_001144775.2:c.194G>A, NM_001144775.1:c.137G>A, XM_011540893.3:c.86G>A, XM_011540893.2:c.86G>A, XM_011540893.1:c.86G>A, NM_001144777.3:c.95G>A, NM_001144777.2:c.95G>A, NM_001144777.1:c.95G>A, XM_011540890.3:c.194G>A, XM_011540890.2:c.194G>A, XM_011540890.1:c.194G>A, NM_001144776.3:c.86G>A, NM_001144776.2:c.86G>A, NM_001144776.1:c.86G>A, NM_001324212.2:c.83G>A, NM_001324212.1:c.83G>A, NM_001324209.2:c.83G>A, NM_001324209.1:c.83G>A, XM_024453822.2:c.122G>A, XM_024453822.1:c.122G>A, NM_001324214.2:c.83G>A, NM_001324214.1:c.83G>A, NM_001324213.2:c.101G>A, NM_001324213.1:c.101G>A, NM_001324208.2:c.95G>A, NM_001324208.1:c.95G>A, NM_001294348.2:c.101G>A, NM_001294348.1:c.101G>A, NM_001324215.2:c.101G>A, NM_001324215.1:c.101G>A, XM_017000541.2:c.125G>A, XM_017000541.1:c.125G>A, NR_136725.2:n.296G>A, NR_136725.1:n.513G>A, XM_017000540.2:c.194G>A, XM_017000540.1:c.194G>A, NM_001324217.2:c.101G>A, NM_001324217.1:c.101G>A, XM_024453825.1:c.83G>A, XM_017000538.1:c.125G>A, XM_024453829.1:c.86G>A, NM_001410787.1:c.86G>A, NM_001324216.1:c.86G>A, XM_017000542.1:c.95G>A, XM_047448337.1:c.86G>A, NP_068771.2:p.Arg29Lys, XP_011539197.1:p.Arg28Lys, XP_006710474.1:p.Arg42Lys, XP_011539191.1:p.Arg65Lys, NP_001138246.1:p.Arg29Lys, XP_011539196.1:p.Arg28Lys, NP_001138247.2:p.Arg65Lys, XP_011539195.1:p.Arg29Lys, NP_001138249.1:p.Arg32Lys, XP_011539192.1:p.Arg65Lys, NP_001138248.1:p.Arg29Lys, NP_001311141.1:p.Arg28Lys, NP_001311138.1:p.Arg28Lys, XP_024309590.1:p.Arg41Lys, NP_001311143.1:p.Arg28Lys, NP_001311142.1:p.Arg34Lys, NP_001311137.1:p.Arg32Lys, NP_001281277.1:p.Arg34Lys, NP_001311144.1:p.Arg34Lys, XP_016856030.1:p.Arg42Lys, XP_016856029.1:p.Arg65Lys, NP_001311146.1:p.Arg34Lys, XP_024309593.1:p.Arg28Lys, XP_016856027.1:p.Arg42Lys, XP_024309597.1:p.Arg29Lys, NP_001311145.1:p.Arg29Lys, XP_016856031.1:p.Arg32Lys, XP_047304293.1:p.Arg29Lys
                        12.

                        rs1442785975 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:50200923 (GRCh38)
                          1:50666595 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:50200922:G:A
                          Gene:
                          ELAVL4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.50200923G>A, NC_000001.10:g.50666595G>A, NM_021952.5:c.888G>A, NM_021952.4:c.888G>A, NM_021952.3:c.888G>A, XM_011540895.4:c.885G>A, XM_011540895.3:c.885G>A, XM_011540895.2:c.885G>A, XM_011540895.1:c.885G>A, XM_006710411.4:c.927G>A, XM_006710411.3:c.927G>A, XM_006710411.2:c.927G>A, XM_006710411.1:c.927G>A, XM_011540889.4:c.996G>A, XM_011540889.3:c.996G>A, XM_011540889.2:c.996G>A, XM_011540889.1:c.996G>A, NM_001144774.3:c.846G>A, NM_001144774.2:c.846G>A, NM_001144774.1:c.846G>A, XM_011540894.3:c.885G>A, XM_011540894.2:c.885G>A, XM_011540894.1:c.885G>A, NM_001144775.3:c.954G>A, NM_001144775.2:c.954G>A, NM_001144775.1:c.897G>A, XM_011540893.3:c.888G>A, XM_011540893.2:c.888G>A, XM_011540893.1:c.888G>A, NM_001144777.3:c.855G>A, NM_001144777.2:c.855G>A, NM_001144777.1:c.855G>A, XM_011540890.3:c.915G>A, XM_011540890.2:c.915G>A, XM_011540890.1:c.915G>A, NM_001144776.3:c.846G>A, NM_001144776.2:c.846G>A, NM_001144776.1:c.846G>A, NM_001324212.2:c.843G>A, NM_001324212.1:c.843G>A, NM_001324209.2:c.804G>A, NM_001324209.1:c.804G>A, XM_024453822.2:c.882G>A, XM_024453822.1:c.882G>A, NM_001324214.2:c.843G>A, NM_001324214.1:c.843G>A, NM_001324213.2:c.903G>A, NM_001324213.1:c.903G>A, NM_001324208.2:c.897G>A, NM_001324208.1:c.897G>A, NM_001294348.2:c.861G>A, NM_001294348.1:c.861G>A, NM_001324215.2:c.822G>A, NM_001324215.1:c.822G>A, XM_024453825.1:c.843G>A, XM_017000538.1:c.885G>A, XM_024453829.1:c.807G>A, NM_001410787.1:c.807G>A
                          13.

                          rs1438147297 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:50200968 (GRCh38)
                            1:50666640 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:50200967:T:C
                            Gene:
                            ELAVL4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.50200968T>C, NC_000001.10:g.50666640T>C, NM_021952.5:c.933T>C, NM_021952.4:c.933T>C, NM_021952.3:c.933T>C, XM_011540895.4:c.930T>C, XM_011540895.3:c.930T>C, XM_011540895.2:c.930T>C, XM_011540895.1:c.930T>C, XM_006710411.4:c.972T>C, XM_006710411.3:c.972T>C, XM_006710411.2:c.972T>C, XM_006710411.1:c.972T>C, XM_011540889.4:c.1041T>C, XM_011540889.3:c.1041T>C, XM_011540889.2:c.1041T>C, XM_011540889.1:c.1041T>C, NM_001144774.3:c.891T>C, NM_001144774.2:c.891T>C, NM_001144774.1:c.891T>C, XM_011540894.3:c.930T>C, XM_011540894.2:c.930T>C, XM_011540894.1:c.930T>C, NM_001144775.3:c.999T>C, NM_001144775.2:c.999T>C, NM_001144775.1:c.942T>C, XM_011540893.3:c.933T>C, XM_011540893.2:c.933T>C, XM_011540893.1:c.933T>C, NM_001144777.3:c.900T>C, NM_001144777.2:c.900T>C, NM_001144777.1:c.900T>C, XM_011540890.3:c.960T>C, XM_011540890.2:c.960T>C, XM_011540890.1:c.960T>C, NM_001144776.3:c.891T>C, NM_001144776.2:c.891T>C, NM_001144776.1:c.891T>C, NM_001324212.2:c.888T>C, NM_001324212.1:c.888T>C, NM_001324209.2:c.849T>C, NM_001324209.1:c.849T>C, XM_024453822.2:c.927T>C, XM_024453822.1:c.927T>C, NM_001324214.2:c.888T>C, NM_001324214.1:c.888T>C, NM_001324213.2:c.948T>C, NM_001324213.1:c.948T>C, NM_001324208.2:c.942T>C, NM_001324208.1:c.942T>C, NM_001294348.2:c.906T>C, NM_001294348.1:c.906T>C, NM_001324215.2:c.867T>C, NM_001324215.1:c.867T>C, XM_024453825.1:c.888T>C, XM_017000538.1:c.930T>C, XM_024453829.1:c.852T>C, NM_001410787.1:c.852T>C
                            14.

                            rs1437298847 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:50201119 (GRCh38)
                              1:50666791 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:50201118:C:T
                              Gene:
                              ELAVL4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000001.11:g.50201119C>T, NC_000001.10:g.50666791C>T, NM_021952.5:c.1084C>T, NM_021952.4:c.1084C>T, NM_021952.3:c.1084C>T, XM_011540895.4:c.1081C>T, XM_011540895.3:c.1081C>T, XM_011540895.2:c.1081C>T, XM_011540895.1:c.1081C>T, XM_006710411.4:c.1123C>T, XM_006710411.3:c.1123C>T, XM_006710411.2:c.1123C>T, XM_006710411.1:c.1123C>T, XM_011540889.4:c.1192C>T, XM_011540889.3:c.1192C>T, XM_011540889.2:c.1192C>T, XM_011540889.1:c.1192C>T, NM_001144774.3:c.1042C>T, NM_001144774.2:c.1042C>T, NM_001144774.1:c.1042C>T, XM_011540894.3:c.1081C>T, XM_011540894.2:c.1081C>T, XM_011540894.1:c.1081C>T, NM_001144775.3:c.1150C>T, NM_001144775.2:c.1150C>T, NM_001144775.1:c.1093C>T, XM_011540893.3:c.1084C>T, XM_011540893.2:c.1084C>T, XM_011540893.1:c.1084C>T, NM_001144777.3:c.1051C>T, NM_001144777.2:c.1051C>T, NM_001144777.1:c.1051C>T, XM_011540890.3:c.1111C>T, XM_011540890.2:c.1111C>T, XM_011540890.1:c.1111C>T, NM_001144776.3:c.1042C>T, NM_001144776.2:c.1042C>T, NM_001144776.1:c.1042C>T, NM_001324212.2:c.1039C>T, NM_001324212.1:c.1039C>T, NM_001324209.2:c.1000C>T, NM_001324209.1:c.1000C>T, XM_024453822.2:c.1078C>T, XM_024453822.1:c.1078C>T, NM_001324214.2:c.1039C>T, NM_001324214.1:c.1039C>T, NM_001324213.2:c.1099C>T, NM_001324213.1:c.1099C>T, NM_001324208.2:c.1093C>T, NM_001324208.1:c.1093C>T, NM_001294348.2:c.1057C>T, NM_001294348.1:c.1057C>T, NM_001324215.2:c.1018C>T, NM_001324215.1:c.1018C>T, XM_024453825.1:c.1039C>T, XM_017000538.1:c.1081C>T, XM_024453829.1:c.1003C>T, NM_001410787.1:c.1003C>T, NP_068771.2:p.Arg362Cys, XP_011539197.1:p.Arg361Cys, XP_006710474.1:p.Arg375Cys, XP_011539191.1:p.Arg398Cys, NP_001138246.1:p.Arg348Cys, XP_011539196.1:p.Arg361Cys, NP_001138247.2:p.Arg384Cys, XP_011539195.1:p.Arg362Cys, NP_001138249.1:p.Arg351Cys, XP_011539192.1:p.Arg371Cys, NP_001138248.1:p.Arg348Cys, NP_001311141.1:p.Arg347Cys, NP_001311138.1:p.Arg334Cys, XP_024309590.1:p.Arg360Cys, NP_001311143.1:p.Arg347Cys, NP_001311142.1:p.Arg367Cys, NP_001311137.1:p.Arg365Cys, NP_001281277.1:p.Arg353Cys, NP_001311144.1:p.Arg340Cys, XP_024309593.1:p.Arg347Cys, XP_016856027.1:p.Arg361Cys, XP_024309597.1:p.Arg335Cys
                              15.

                              rs1433948845 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                1:50193804 (GRCh38)
                                1:50659476 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:50193803:G:T
                                Gene:
                                ELAVL4 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_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)
                                HGVS:
                                NC_000001.11:g.50193804G>T, NC_000001.10:g.50659476G>T, NM_021952.5:c.394G>T, NM_021952.4:c.394G>T, NM_021952.3:c.394G>T, XM_011540895.4:c.391G>T, XM_011540895.3:c.391G>T, XM_011540895.2:c.391G>T, XM_011540895.1:c.391G>T, XM_006710411.4:c.433G>T, XM_006710411.3:c.433G>T, XM_006710411.2:c.433G>T, XM_006710411.1:c.433G>T, XM_011540889.4:c.502G>T, XM_011540889.3:c.502G>T, XM_011540889.2:c.502G>T, XM_011540889.1:c.502G>T, NM_001144774.3:c.394G>T, NM_001144774.2:c.394G>T, NM_001144774.1:c.394G>T, XM_011540894.3:c.391G>T, XM_011540894.2:c.391G>T, XM_011540894.1:c.391G>T, NM_001144775.3:c.502G>T, NM_001144775.2:c.502G>T, NM_001144775.1:c.445G>T, XM_011540893.3:c.394G>T, XM_011540893.2:c.394G>T, XM_011540893.1:c.394G>T, NM_001144777.3:c.403G>T, NM_001144777.2:c.403G>T, NM_001144777.1:c.403G>T, XM_011540890.3:c.502G>T, XM_011540890.2:c.502G>T, XM_011540890.1:c.502G>T, NM_001144776.3:c.394G>T, NM_001144776.2:c.394G>T, NM_001144776.1:c.394G>T, NM_001324212.2:c.391G>T, NM_001324212.1:c.391G>T, NM_001324209.2:c.391G>T, NM_001324209.1:c.391G>T, XM_024453822.2:c.430G>T, XM_024453822.1:c.430G>T, NM_001324214.2:c.391G>T, NM_001324214.1:c.391G>T, NM_001324213.2:c.409G>T, NM_001324213.1:c.409G>T, NM_001324208.2:c.403G>T, NM_001324208.1:c.403G>T, NM_001294348.2:c.409G>T, NM_001294348.1:c.409G>T, NM_001324215.2:c.409G>T, NM_001324215.1:c.409G>T, XM_024453825.1:c.391G>T, XM_017000538.1:c.433G>T, XM_024453829.1:c.394G>T, NM_001410787.1:c.394G>T, NP_068771.2:p.Ala132Ser, XP_011539197.1:p.Ala131Ser, XP_006710474.1:p.Ala145Ser, XP_011539191.1:p.Ala168Ser, NP_001138246.1:p.Ala132Ser, XP_011539196.1:p.Ala131Ser, NP_001138247.2:p.Ala168Ser, XP_011539195.1:p.Ala132Ser, NP_001138249.1:p.Ala135Ser, XP_011539192.1:p.Ala168Ser, NP_001138248.1:p.Ala132Ser, NP_001311141.1:p.Ala131Ser, NP_001311138.1:p.Ala131Ser, XP_024309590.1:p.Ala144Ser, NP_001311143.1:p.Ala131Ser, NP_001311142.1:p.Ala137Ser, NP_001311137.1:p.Ala135Ser, NP_001281277.1:p.Ala137Ser, NP_001311144.1:p.Ala137Ser, XP_024309593.1:p.Ala131Ser, XP_016856027.1:p.Ala145Ser, XP_024309597.1:p.Ala132Ser
                                16.

                                rs1433758169 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:50200995 (GRCh38)
                                  1:50666667 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:50200994:T:C
                                  Gene:
                                  ELAVL4 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.50200995T>C, NC_000001.10:g.50666667T>C, NM_021952.5:c.960T>C, NM_021952.4:c.960T>C, NM_021952.3:c.960T>C, XM_011540895.4:c.957T>C, XM_011540895.3:c.957T>C, XM_011540895.2:c.957T>C, XM_011540895.1:c.957T>C, XM_006710411.4:c.999T>C, XM_006710411.3:c.999T>C, XM_006710411.2:c.999T>C, XM_006710411.1:c.999T>C, XM_011540889.4:c.1068T>C, XM_011540889.3:c.1068T>C, XM_011540889.2:c.1068T>C, XM_011540889.1:c.1068T>C, NM_001144774.3:c.918T>C, NM_001144774.2:c.918T>C, NM_001144774.1:c.918T>C, XM_011540894.3:c.957T>C, XM_011540894.2:c.957T>C, XM_011540894.1:c.957T>C, NM_001144775.3:c.1026T>C, NM_001144775.2:c.1026T>C, NM_001144775.1:c.969T>C, XM_011540893.3:c.960T>C, XM_011540893.2:c.960T>C, XM_011540893.1:c.960T>C, NM_001144777.3:c.927T>C, NM_001144777.2:c.927T>C, NM_001144777.1:c.927T>C, XM_011540890.3:c.987T>C, XM_011540890.2:c.987T>C, XM_011540890.1:c.987T>C, NM_001144776.3:c.918T>C, NM_001144776.2:c.918T>C, NM_001144776.1:c.918T>C, NM_001324212.2:c.915T>C, NM_001324212.1:c.915T>C, NM_001324209.2:c.876T>C, NM_001324209.1:c.876T>C, XM_024453822.2:c.954T>C, XM_024453822.1:c.954T>C, NM_001324214.2:c.915T>C, NM_001324214.1:c.915T>C, NM_001324213.2:c.975T>C, NM_001324213.1:c.975T>C, NM_001324208.2:c.969T>C, NM_001324208.1:c.969T>C, NM_001294348.2:c.933T>C, NM_001294348.1:c.933T>C, NM_001324215.2:c.894T>C, NM_001324215.1:c.894T>C, XM_024453825.1:c.915T>C, XM_017000538.1:c.957T>C, XM_024453829.1:c.879T>C, NM_001410787.1:c.879T>C
                                  17.

                                  rs1427992189 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:50197456 (GRCh38)
                                    1:50663128 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:50197455:T:C
                                    Gene:
                                    ELAVL4 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_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_000001.11:g.50197456T>C, NC_000001.10:g.50663128T>C, NM_021952.5:c.762T>C, NM_021952.4:c.762T>C, NM_021952.3:c.762T>C, XM_011540895.4:c.759T>C, XM_011540895.3:c.759T>C, XM_011540895.2:c.759T>C, XM_011540895.1:c.759T>C, XM_006710411.4:c.801T>C, XM_006710411.3:c.801T>C, XM_006710411.2:c.801T>C, XM_006710411.1:c.801T>C, XM_011540889.4:c.870T>C, XM_011540889.3:c.870T>C, XM_011540889.2:c.870T>C, XM_011540889.1:c.870T>C, NM_001144774.3:c.762T>C, NM_001144774.2:c.762T>C, NM_001144774.1:c.762T>C, XM_011540894.3:c.759T>C, XM_011540894.2:c.759T>C, XM_011540894.1:c.759T>C, NM_001144775.3:c.870T>C, NM_001144775.2:c.870T>C, NM_001144775.1:c.813T>C, XM_011540893.3:c.762T>C, XM_011540893.2:c.762T>C, XM_011540893.1:c.762T>C, NM_001144777.3:c.771T>C, NM_001144777.2:c.771T>C, NM_001144777.1:c.771T>C, NM_001144776.3:c.762T>C, NM_001144776.2:c.762T>C, NM_001144776.1:c.762T>C, NM_001324212.2:c.759T>C, NM_001324212.1:c.759T>C, XM_024453822.2:c.798T>C, XM_024453822.1:c.798T>C, NM_001324214.2:c.759T>C, NM_001324214.1:c.759T>C, NM_001324213.2:c.777T>C, NM_001324213.1:c.777T>C, NM_001324208.2:c.771T>C, NM_001324208.1:c.771T>C, NM_001294348.2:c.777T>C, NM_001294348.1:c.777T>C, XM_024453825.1:c.759T>C, XM_017000538.1:c.801T>C
                                    18.

                                    rs1427053388 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:50195561 (GRCh38)
                                      1:50661233 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:50195560:G:T
                                      Gene:
                                      ELAVL4 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.50195561G>T, NC_000001.10:g.50661233G>T, NM_021952.5:c.509G>T, NM_021952.4:c.509G>T, NM_021952.3:c.509G>T, XM_011540895.4:c.506G>T, XM_011540895.3:c.506G>T, XM_011540895.2:c.506G>T, XM_011540895.1:c.506G>T, XM_006710411.4:c.548G>T, XM_006710411.3:c.548G>T, XM_006710411.2:c.548G>T, XM_006710411.1:c.548G>T, XM_011540889.4:c.617G>T, XM_011540889.3:c.617G>T, XM_011540889.2:c.617G>T, XM_011540889.1:c.617G>T, NM_001144774.3:c.509G>T, NM_001144774.2:c.509G>T, NM_001144774.1:c.509G>T, XM_011540894.3:c.506G>T, XM_011540894.2:c.506G>T, XM_011540894.1:c.506G>T, NM_001144775.3:c.617G>T, NM_001144775.2:c.617G>T, NM_001144775.1:c.560G>T, XM_011540893.3:c.509G>T, XM_011540893.2:c.509G>T, XM_011540893.1:c.509G>T, NM_001144777.3:c.518G>T, NM_001144777.2:c.518G>T, NM_001144777.1:c.518G>T, XM_011540890.3:c.617G>T, XM_011540890.2:c.617G>T, XM_011540890.1:c.617G>T, NM_001144776.3:c.509G>T, NM_001144776.2:c.509G>T, NM_001144776.1:c.509G>T, NM_001324212.2:c.506G>T, NM_001324212.1:c.506G>T, NM_001324209.2:c.506G>T, NM_001324209.1:c.506G>T, XM_024453822.2:c.545G>T, XM_024453822.1:c.545G>T, NM_001324214.2:c.506G>T, NM_001324214.1:c.506G>T, NM_001324213.2:c.524G>T, NM_001324213.1:c.524G>T, NM_001324208.2:c.518G>T, NM_001324208.1:c.518G>T, NM_001294348.2:c.524G>T, NM_001294348.1:c.524G>T, NM_001324215.2:c.524G>T, NM_001324215.1:c.524G>T, XM_024453825.1:c.506G>T, XM_017000538.1:c.548G>T, XM_024453829.1:c.509G>T, NM_001410787.1:c.509G>T, NP_068771.2:p.Gly170Val, XP_011539197.1:p.Gly169Val, XP_006710474.1:p.Gly183Val, XP_011539191.1:p.Gly206Val, NP_001138246.1:p.Gly170Val, XP_011539196.1:p.Gly169Val, NP_001138247.2:p.Gly206Val, XP_011539195.1:p.Gly170Val, NP_001138249.1:p.Gly173Val, XP_011539192.1:p.Gly206Val, NP_001138248.1:p.Gly170Val, NP_001311141.1:p.Gly169Val, NP_001311138.1:p.Gly169Val, XP_024309590.1:p.Gly182Val, NP_001311143.1:p.Gly169Val, NP_001311142.1:p.Gly175Val, NP_001311137.1:p.Gly173Val, NP_001281277.1:p.Gly175Val, NP_001311144.1:p.Gly175Val, XP_024309593.1:p.Gly169Val, XP_016856027.1:p.Gly183Val, XP_024309597.1:p.Gly170Val
                                      19.

                                      rs1420508897 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:50197449 (GRCh38)
                                        1:50663121 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:50197448:T:C
                                        Gene:
                                        ELAVL4 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,intron_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_000001.11:g.50197449T>C, NC_000001.10:g.50663121T>C, NM_021952.5:c.755T>C, NM_021952.4:c.755T>C, NM_021952.3:c.755T>C, XM_011540895.4:c.752T>C, XM_011540895.3:c.752T>C, XM_011540895.2:c.752T>C, XM_011540895.1:c.752T>C, XM_006710411.4:c.794T>C, XM_006710411.3:c.794T>C, XM_006710411.2:c.794T>C, XM_006710411.1:c.794T>C, XM_011540889.4:c.863T>C, XM_011540889.3:c.863T>C, XM_011540889.2:c.863T>C, XM_011540889.1:c.863T>C, NM_001144774.3:c.755T>C, NM_001144774.2:c.755T>C, NM_001144774.1:c.755T>C, XM_011540894.3:c.752T>C, XM_011540894.2:c.752T>C, XM_011540894.1:c.752T>C, NM_001144775.3:c.863T>C, NM_001144775.2:c.863T>C, NM_001144775.1:c.806T>C, XM_011540893.3:c.755T>C, XM_011540893.2:c.755T>C, XM_011540893.1:c.755T>C, NM_001144777.3:c.764T>C, NM_001144777.2:c.764T>C, NM_001144777.1:c.764T>C, NM_001144776.3:c.755T>C, NM_001144776.2:c.755T>C, NM_001144776.1:c.755T>C, NM_001324212.2:c.752T>C, NM_001324212.1:c.752T>C, XM_024453822.2:c.791T>C, XM_024453822.1:c.791T>C, NM_001324214.2:c.752T>C, NM_001324214.1:c.752T>C, NM_001324213.2:c.770T>C, NM_001324213.1:c.770T>C, NM_001324208.2:c.764T>C, NM_001324208.1:c.764T>C, NM_001294348.2:c.770T>C, NM_001294348.1:c.770T>C, XM_024453825.1:c.752T>C, XM_017000538.1:c.794T>C, NP_068771.2:p.Met252Thr, XP_011539197.1:p.Met251Thr, XP_006710474.1:p.Met265Thr, XP_011539191.1:p.Met288Thr, NP_001138246.1:p.Met252Thr, XP_011539196.1:p.Met251Thr, NP_001138247.2:p.Met288Thr, XP_011539195.1:p.Met252Thr, NP_001138249.1:p.Met255Thr, NP_001138248.1:p.Met252Thr, NP_001311141.1:p.Met251Thr, XP_024309590.1:p.Met264Thr, NP_001311143.1:p.Met251Thr, NP_001311142.1:p.Met257Thr, NP_001311137.1:p.Met255Thr, NP_001281277.1:p.Met257Thr, XP_024309593.1:p.Met251Thr, XP_016856027.1:p.Met265Thr
                                        20.

                                        rs1417914326 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:50145136 (GRCh38)
                                          1:50610808 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:50145135:G:A
                                          Gene:
                                          ELAVL4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.50145136G>A, NC_000001.10:g.50610808G>A, NM_021952.5:c.189G>A, NM_021952.4:c.189G>A, NM_021952.3:c.189G>A, XM_011540895.4:c.186G>A, XM_011540895.3:c.186G>A, XM_011540895.2:c.186G>A, XM_011540895.1:c.186G>A, XM_006710411.4:c.228G>A, XM_006710411.3:c.228G>A, XM_006710411.2:c.228G>A, XM_006710411.1:c.228G>A, XM_011540889.4:c.297G>A, XM_011540889.3:c.297G>A, XM_011540889.2:c.297G>A, XM_011540889.1:c.297G>A, NM_001144774.3:c.189G>A, NM_001144774.2:c.189G>A, NM_001144774.1:c.189G>A, XM_011540894.3:c.186G>A, XM_011540894.2:c.186G>A, XM_011540894.1:c.186G>A, NM_001144775.3:c.297G>A, NM_001144775.2:c.297G>A, NM_001144775.1:c.240G>A, XM_011540893.3:c.189G>A, XM_011540893.2:c.189G>A, XM_011540893.1:c.189G>A, NM_001144777.3:c.198G>A, NM_001144777.2:c.198G>A, NM_001144777.1:c.198G>A, XM_011540890.3:c.297G>A, XM_011540890.2:c.297G>A, XM_011540890.1:c.297G>A, NM_001144776.3:c.189G>A, NM_001144776.2:c.189G>A, NM_001144776.1:c.189G>A, NM_001324212.2:c.186G>A, NM_001324212.1:c.186G>A, NM_001324209.2:c.186G>A, NM_001324209.1:c.186G>A, XM_024453822.2:c.225G>A, XM_024453822.1:c.225G>A, NM_001324214.2:c.186G>A, NM_001324214.1:c.186G>A, NM_001324213.2:c.204G>A, NM_001324213.1:c.204G>A, NM_001324208.2:c.198G>A, NM_001324208.1:c.198G>A, NM_001294348.2:c.204G>A, NM_001294348.1:c.204G>A, NM_001324215.2:c.204G>A, NM_001324215.1:c.204G>A, XM_017000541.2:c.228G>A, XM_017000541.1:c.228G>A, NR_136725.2:n.399G>A, NR_136725.1:n.616G>A, XM_017000540.2:c.297G>A, XM_017000540.1:c.297G>A, NM_001324217.2:c.204G>A, NM_001324217.1:c.204G>A, XM_024453825.1:c.186G>A, XM_017000538.1:c.228G>A, XM_024453829.1:c.189G>A, NM_001410787.1:c.189G>A, NM_001324216.1:c.189G>A, XM_017000542.1:c.198G>A, XM_047448337.1:c.189G>A

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