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Items: 1 to 20 of 598

1.

rs1490167438 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:71015604 (GRCh38)
    3:71064755 (GRCh37)
    Canonical SPDI:
    NC_000003.12:71015603:C:T
    Gene:
    FOXP1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000003.12:g.71015604C>T, NC_000003.11:g.71064755C>T, NG_028243.1:g.573386G>A, NM_032682.6:c.919G>A, NM_032682.5:c.919G>A, NM_001349338.3:c.919G>A, NM_001349338.2:c.919G>A, NM_001349338.1:c.919G>A, NM_001349341.3:c.916G>A, NM_001349341.2:c.916G>A, NM_001349341.1:c.916G>A, NM_001244808.3:c.919G>A, NM_001244808.2:c.919G>A, NM_001244808.1:c.919G>A, NR_146142.3:n.1523G>A, NR_146142.2:n.1523G>A, NR_146142.1:n.1548G>A, NR_146143.3:n.1520G>A, NR_146143.2:n.1520G>A, NR_146143.1:n.1545G>A, NM_001349340.3:c.919G>A, NM_001349340.2:c.919G>A, NM_001349340.1:c.919G>A, NM_001244814.3:c.919G>A, NM_001244814.2:c.919G>A, NM_001244814.1:c.919G>A, NM_001244812.3:c.691G>A, NM_001244812.2:c.691G>A, NM_001244812.1:c.691G>A, NM_001349342.3:c.619G>A, NM_001349342.2:c.619G>A, NM_001349342.1:c.619G>A, NM_001349343.3:c.616G>A, NM_001349343.2:c.616G>A, NM_001349343.1:c.616G>A, NM_001244813.3:c.619G>A, NM_001244813.2:c.619G>A, NM_001244813.1:c.619G>A, NM_001349344.3:c.616G>A, NM_001349344.2:c.616G>A, NM_001349344.1:c.616G>A, NM_001244810.2:c.919G>A, NM_001244810.1:c.919G>A, NM_001244816.2:c.919G>A, NM_001244816.1:c.919G>A, NM_001244815.2:c.619G>A, NM_001244815.1:c.925G>A, NM_001349337.2:c.616G>A, NM_001349337.1:c.922G>A, NM_001370548.1:c.619G>A, NM_001349339.1:c.919G>A, NP_116071.2:p.Val307Ile, NP_001336267.1:p.Val307Ile, NP_001336270.1:p.Val306Ile, NP_001231737.1:p.Val307Ile, NP_001336269.1:p.Val307Ile, NP_001231743.1:p.Val307Ile, NP_001231741.1:p.Val231Ile, NP_001336271.1:p.Val207Ile, NP_001336272.1:p.Val206Ile, NP_001231742.1:p.Val207Ile, NP_001336273.1:p.Val206Ile, NP_001231739.1:p.Val307Ile, NP_001231745.1:p.Val307Ile, NP_001231744.2:p.Val207Ile, NP_001336266.2:p.Val206Ile, NP_001357477.1:p.Val207Ile

    2.

    rs1486275946 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G,T [Show Flanks]
      Chromosome:
      3:71198349 (GRCh38)
      3:71247500 (GRCh37)
      Canonical SPDI:
      NC_000003.12:71198348:A:C,NC_000003.12:71198348:A:G,NC_000003.12:71198348:A:T
      Gene:
      FOXP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      G=0.000008/1 (GnomAD)
      HGVS:
      NC_000003.12:g.71198349A>C, NC_000003.12:g.71198349A>G, NC_000003.12:g.71198349A>T, NC_000003.11:g.71247500A>C, NC_000003.11:g.71247500A>G, NC_000003.11:g.71247500A>T, NG_028243.1:g.390641T>G, NG_028243.1:g.390641T>C, NG_028243.1:g.390641T>A, NM_032682.6:c.33T>G, NM_032682.6:c.33T>C, NM_032682.6:c.33T>A, NM_032682.5:c.33T>G, NM_032682.5:c.33T>C, NM_032682.5:c.33T>A, NM_001349338.3:c.33T>G, NM_001349338.3:c.33T>C, NM_001349338.3:c.33T>A, NM_001349338.2:c.33T>G, NM_001349338.2:c.33T>C, NM_001349338.2:c.33T>A, NM_001349338.1:c.33T>G, NM_001349338.1:c.33T>C, NM_001349338.1:c.33T>A, NM_001349341.3:c.33T>G, NM_001349341.3:c.33T>C, NM_001349341.3:c.33T>A, NM_001349341.2:c.33T>G, NM_001349341.2:c.33T>C, NM_001349341.2:c.33T>A, NM_001349341.1:c.33T>G, NM_001349341.1:c.33T>C, NM_001349341.1:c.33T>A, NM_001244808.3:c.33T>G, NM_001244808.3:c.33T>C, NM_001244808.3:c.33T>A, NM_001244808.2:c.33T>G, NM_001244808.2:c.33T>C, NM_001244808.2:c.33T>A, NM_001244808.1:c.33T>G, NM_001244808.1:c.33T>C, NM_001244808.1:c.33T>A, NR_146142.3:n.637T>G, NR_146142.3:n.637T>C, NR_146142.3:n.637T>A, NR_146142.2:n.637T>G, NR_146142.2:n.637T>C, NR_146142.2:n.637T>A, NR_146142.1:n.662T>G, NR_146142.1:n.662T>C, NR_146142.1:n.662T>A, NR_146143.3:n.637T>G, NR_146143.3:n.637T>C, NR_146143.3:n.637T>A, NR_146143.2:n.637T>G, NR_146143.2:n.637T>C, NR_146143.2:n.637T>A, NR_146143.1:n.662T>G, NR_146143.1:n.662T>C, NR_146143.1:n.662T>A, NM_001349340.3:c.33T>G, NM_001349340.3:c.33T>C, NM_001349340.3:c.33T>A, NM_001349340.2:c.33T>G, NM_001349340.2:c.33T>C, NM_001349340.2:c.33T>A, NM_001349340.1:c.33T>G, NM_001349340.1:c.33T>C, NM_001349340.1:c.33T>A, NM_001244814.3:c.33T>G, NM_001244814.3:c.33T>C, NM_001244814.3:c.33T>A, NM_001244814.2:c.33T>G, NM_001244814.2:c.33T>C, NM_001244814.2:c.33T>A, NM_001244814.1:c.33T>G, NM_001244814.1:c.33T>C, NM_001244814.1:c.33T>A, NM_001244812.3:c.33T>G, NM_001244812.3:c.33T>C, NM_001244812.3:c.33T>A, NM_001244812.2:c.33T>G, NM_001244812.2:c.33T>C, NM_001244812.2:c.33T>A, NM_001244812.1:c.33T>G, NM_001244812.1:c.33T>C, NM_001244812.1:c.33T>A, NM_001244810.2:c.33T>G, NM_001244810.2:c.33T>C, NM_001244810.2:c.33T>A, NM_001244810.1:c.33T>G, NM_001244810.1:c.33T>C, NM_001244810.1:c.33T>A, NM_001244816.2:c.33T>G, NM_001244816.2:c.33T>C, NM_001244816.2:c.33T>A, NM_001244816.1:c.33T>G, NM_001244816.1:c.33T>C, NM_001244816.1:c.33T>A, NM_001012505.2:c.33T>G, NM_001012505.2:c.33T>C, NM_001012505.2:c.33T>A, NM_001012505.1:c.33T>G, NM_001012505.1:c.33T>C, NM_001012505.1:c.33T>A, NM_001349339.1:c.33T>G, NM_001349339.1:c.33T>C, NM_001349339.1:c.33T>A, NP_116071.2:p.Ser11Arg, NP_116071.2:p.Ser11Arg, NP_001336267.1:p.Ser11Arg, NP_001336267.1:p.Ser11Arg, NP_001336270.1:p.Ser11Arg, NP_001336270.1:p.Ser11Arg, NP_001231737.1:p.Ser11Arg, NP_001231737.1:p.Ser11Arg, NP_001336269.1:p.Ser11Arg, NP_001336269.1:p.Ser11Arg, NP_001231743.1:p.Ser11Arg, NP_001231743.1:p.Ser11Arg, NP_001231741.1:p.Ser11Arg, NP_001231741.1:p.Ser11Arg, NP_001231739.1:p.Ser11Arg, NP_001231739.1:p.Ser11Arg, NP_001231745.1:p.Ser11Arg, NP_001231745.1:p.Ser11Arg, NP_001012523.1:p.Ser11Arg, NP_001012523.1:p.Ser11Arg

      3.

      rs1486029197 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:71015645 (GRCh38)
        3:71064796 (GRCh37)
        Canonical SPDI:
        NC_000003.12:71015644:T:C
        Gene:
        FOXP1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
        HGVS:
        NC_000003.12:g.71015645T>C, NC_000003.11:g.71064796T>C, NG_028243.1:g.573345A>G, NM_032682.6:c.878A>G, NM_032682.5:c.878A>G, NM_001349338.3:c.878A>G, NM_001349338.2:c.878A>G, NM_001349338.1:c.878A>G, NM_001349341.3:c.875A>G, NM_001349341.2:c.875A>G, NM_001349341.1:c.875A>G, NM_001244808.3:c.878A>G, NM_001244808.2:c.878A>G, NM_001244808.1:c.878A>G, NR_146142.3:n.1482A>G, NR_146142.2:n.1482A>G, NR_146142.1:n.1507A>G, NR_146143.3:n.1479A>G, NR_146143.2:n.1479A>G, NR_146143.1:n.1504A>G, NM_001349340.3:c.878A>G, NM_001349340.2:c.878A>G, NM_001349340.1:c.878A>G, NM_001244814.3:c.878A>G, NM_001244814.2:c.878A>G, NM_001244814.1:c.878A>G, NM_001244812.3:c.650A>G, NM_001244812.2:c.650A>G, NM_001244812.1:c.650A>G, NM_001349342.3:c.578A>G, NM_001349342.2:c.578A>G, NM_001349342.1:c.578A>G, NM_001349343.3:c.575A>G, NM_001349343.2:c.575A>G, NM_001349343.1:c.575A>G, NM_001244813.3:c.578A>G, NM_001244813.2:c.578A>G, NM_001244813.1:c.578A>G, NM_001349344.3:c.575A>G, NM_001349344.2:c.575A>G, NM_001349344.1:c.575A>G, NM_001244810.2:c.878A>G, NM_001244810.1:c.878A>G, NM_001244816.2:c.878A>G, NM_001244816.1:c.878A>G, NM_001244815.2:c.578A>G, NM_001244815.1:c.884A>G, NM_001349337.2:c.575A>G, NM_001349337.1:c.881A>G, NM_001370548.1:c.578A>G, NM_001349339.1:c.878A>G, NP_116071.2:p.His293Arg, NP_001336267.1:p.His293Arg, NP_001336270.1:p.His292Arg, NP_001231737.1:p.His293Arg, NP_001336269.1:p.His293Arg, NP_001231743.1:p.His293Arg, NP_001231741.1:p.His217Arg, NP_001336271.1:p.His193Arg, NP_001336272.1:p.His192Arg, NP_001231742.1:p.His193Arg, NP_001336273.1:p.His192Arg, NP_001231739.1:p.His293Arg, NP_001231745.1:p.His293Arg, NP_001231744.2:p.His193Arg, NP_001336266.2:p.His192Arg, NP_001357477.1:p.His193Arg

        4.

        rs1485902405 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          3:71198242 (GRCh38)
          3:71247393 (GRCh37)
          Canonical SPDI:
          NC_000003.12:71198241:C:A,NC_000003.12:71198241:C:G,NC_000003.12:71198241:C:T
          Gene:
          FOXP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000003.12:g.71198242C>A, NC_000003.12:g.71198242C>G, NC_000003.12:g.71198242C>T, NC_000003.11:g.71247393C>A, NC_000003.11:g.71247393C>G, NC_000003.11:g.71247393C>T, NG_028243.1:g.390748G>T, NG_028243.1:g.390748G>C, NG_028243.1:g.390748G>A, NM_032682.6:c.140G>T, NM_032682.6:c.140G>C, NM_032682.6:c.140G>A, NM_032682.5:c.140G>T, NM_032682.5:c.140G>C, NM_032682.5:c.140G>A, NM_001349338.3:c.140G>T, NM_001349338.3:c.140G>C, NM_001349338.3:c.140G>A, NM_001349338.2:c.140G>T, NM_001349338.2:c.140G>C, NM_001349338.2:c.140G>A, NM_001349338.1:c.140G>T, NM_001349338.1:c.140G>C, NM_001349338.1:c.140G>A, NM_001349341.3:c.140G>T, NM_001349341.3:c.140G>C, NM_001349341.3:c.140G>A, NM_001349341.2:c.140G>T, NM_001349341.2:c.140G>C, NM_001349341.2:c.140G>A, NM_001349341.1:c.140G>T, NM_001349341.1:c.140G>C, NM_001349341.1:c.140G>A, NM_001244808.3:c.140G>T, NM_001244808.3:c.140G>C, NM_001244808.3:c.140G>A, NM_001244808.2:c.140G>T, NM_001244808.2:c.140G>C, NM_001244808.2:c.140G>A, NM_001244808.1:c.140G>T, NM_001244808.1:c.140G>C, NM_001244808.1:c.140G>A, NR_146142.3:n.744G>T, NR_146142.3:n.744G>C, NR_146142.3:n.744G>A, NR_146142.2:n.744G>T, NR_146142.2:n.744G>C, NR_146142.2:n.744G>A, NR_146142.1:n.769G>T, NR_146142.1:n.769G>C, NR_146142.1:n.769G>A, NR_146143.3:n.744G>T, NR_146143.3:n.744G>C, NR_146143.3:n.744G>A, NR_146143.2:n.744G>T, NR_146143.2:n.744G>C, NR_146143.2:n.744G>A, NR_146143.1:n.769G>T, NR_146143.1:n.769G>C, NR_146143.1:n.769G>A, NM_001349340.3:c.140G>T, NM_001349340.3:c.140G>C, NM_001349340.3:c.140G>A, NM_001349340.2:c.140G>T, NM_001349340.2:c.140G>C, NM_001349340.2:c.140G>A, NM_001349340.1:c.140G>T, NM_001349340.1:c.140G>C, NM_001349340.1:c.140G>A, NM_001244814.3:c.140G>T, NM_001244814.3:c.140G>C, NM_001244814.3:c.140G>A, NM_001244814.2:c.140G>T, NM_001244814.2:c.140G>C, NM_001244814.2:c.140G>A, NM_001244814.1:c.140G>T, NM_001244814.1:c.140G>C, NM_001244814.1:c.140G>A, NM_001244812.3:c.140G>T, NM_001244812.3:c.140G>C, NM_001244812.3:c.140G>A, NM_001244812.2:c.140G>T, NM_001244812.2:c.140G>C, NM_001244812.2:c.140G>A, NM_001244812.1:c.140G>T, NM_001244812.1:c.140G>C, NM_001244812.1:c.140G>A, NM_001244810.2:c.140G>T, NM_001244810.2:c.140G>C, NM_001244810.2:c.140G>A, NM_001244810.1:c.140G>T, NM_001244810.1:c.140G>C, NM_001244810.1:c.140G>A, NM_001244816.2:c.140G>T, NM_001244816.2:c.140G>C, NM_001244816.2:c.140G>A, NM_001244816.1:c.140G>T, NM_001244816.1:c.140G>C, NM_001244816.1:c.140G>A, NM_001012505.2:c.140G>T, NM_001012505.2:c.140G>C, NM_001012505.2:c.140G>A, NM_001012505.1:c.140G>T, NM_001012505.1:c.140G>C, NM_001012505.1:c.140G>A, NM_001349339.1:c.140G>T, NM_001349339.1:c.140G>C, NM_001349339.1:c.140G>A, NP_116071.2:p.Gly47Val, NP_116071.2:p.Gly47Ala, NP_116071.2:p.Gly47Glu, NP_001336267.1:p.Gly47Val, NP_001336267.1:p.Gly47Ala, NP_001336267.1:p.Gly47Glu, NP_001336270.1:p.Gly47Val, NP_001336270.1:p.Gly47Ala, NP_001336270.1:p.Gly47Glu, NP_001231737.1:p.Gly47Val, NP_001231737.1:p.Gly47Ala, NP_001231737.1:p.Gly47Glu, NP_001336269.1:p.Gly47Val, NP_001336269.1:p.Gly47Ala, NP_001336269.1:p.Gly47Glu, NP_001231743.1:p.Gly47Val, NP_001231743.1:p.Gly47Ala, NP_001231743.1:p.Gly47Glu, NP_001231741.1:p.Gly47Val, NP_001231741.1:p.Gly47Ala, NP_001231741.1:p.Gly47Glu, NP_001231739.1:p.Gly47Val, NP_001231739.1:p.Gly47Ala, NP_001231739.1:p.Gly47Glu, NP_001231745.1:p.Gly47Val, NP_001231745.1:p.Gly47Ala, NP_001231745.1:p.Gly47Glu, NP_001012523.1:p.Gly47Val, NP_001012523.1:p.Gly47Ala, NP_001012523.1:p.Gly47Glu

          5.

          rs1477164140 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:71001031 (GRCh38)
            3:71050182 (GRCh37)
            Canonical SPDI:
            NC_000003.12:71001030:C:T
            Gene:
            FOXP1 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000047/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.71001031C>T, NC_000003.11:g.71050182C>T, NG_028243.1:g.587959G>A, NM_032682.6:c.1003G>A, NM_032682.5:c.1003G>A, NM_001349338.3:c.1003G>A, NM_001349338.2:c.1003G>A, NM_001349338.1:c.1003G>A, NM_001349341.3:c.1000G>A, NM_001349341.2:c.1000G>A, NM_001349341.1:c.1000G>A, NM_001244808.3:c.1003G>A, NM_001244808.2:c.1003G>A, NM_001244808.1:c.1003G>A, NM_001349340.3:c.1003G>A, NM_001349340.2:c.1003G>A, NM_001349340.1:c.1003G>A, NM_001244814.3:c.1003G>A, NM_001244814.2:c.1003G>A, NM_001244814.1:c.1003G>A, NM_001244812.3:c.775G>A, NM_001244812.2:c.775G>A, NM_001244812.1:c.775G>A, NM_001349342.3:c.703G>A, NM_001349342.2:c.703G>A, NM_001349342.1:c.703G>A, NM_001349343.3:c.700G>A, NM_001349343.2:c.700G>A, NM_001349343.1:c.700G>A, NM_001244813.3:c.703G>A, NM_001244813.2:c.703G>A, NM_001244813.1:c.703G>A, NM_001349344.3:c.700G>A, NM_001349344.2:c.700G>A, NM_001349344.1:c.700G>A, NM_001244810.2:c.1003G>A, NM_001244810.1:c.1003G>A, NM_001244816.2:c.1003G>A, NM_001244816.1:c.1003G>A, NM_001244815.2:c.703G>A, NM_001244815.1:c.1009G>A, NM_001349337.2:c.700G>A, NM_001349337.1:c.1006G>A, NM_001370548.1:c.703G>A, NM_001349339.1:c.1003G>A, NP_116071.2:p.Asp335Asn, NP_001336267.1:p.Asp335Asn, NP_001336270.1:p.Asp334Asn, NP_001231737.1:p.Asp335Asn, NP_001336269.1:p.Asp335Asn, NP_001231743.1:p.Asp335Asn, NP_001231741.1:p.Asp259Asn, NP_001336271.1:p.Asp235Asn, NP_001336272.1:p.Asp234Asn, NP_001231742.1:p.Asp235Asn, NP_001336273.1:p.Asp234Asn, NP_001231739.1:p.Asp335Asn, NP_001231745.1:p.Asp335Asn, NP_001231744.2:p.Asp235Asn, NP_001336266.2:p.Asp234Asn, NP_001357477.1:p.Asp235Asn

            6.

            rs1476826805 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:71198353 (GRCh38)
              3:71247504 (GRCh37)
              Canonical SPDI:
              NC_000003.12:71198352:T:C
              Gene:
              FOXP1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.71198353T>C, NC_000003.11:g.71247504T>C, NG_028243.1:g.390637A>G, NM_032682.6:c.29A>G, NM_032682.5:c.29A>G, NM_001349338.3:c.29A>G, NM_001349338.2:c.29A>G, NM_001349338.1:c.29A>G, NM_001349341.3:c.29A>G, NM_001349341.2:c.29A>G, NM_001349341.1:c.29A>G, NM_001244808.3:c.29A>G, NM_001244808.2:c.29A>G, NM_001244808.1:c.29A>G, NR_146142.3:n.633A>G, NR_146142.2:n.633A>G, NR_146142.1:n.658A>G, NR_146143.3:n.633A>G, NR_146143.2:n.633A>G, NR_146143.1:n.658A>G, NM_001349340.3:c.29A>G, NM_001349340.2:c.29A>G, NM_001349340.1:c.29A>G, NM_001244814.3:c.29A>G, NM_001244814.2:c.29A>G, NM_001244814.1:c.29A>G, NM_001244812.3:c.29A>G, NM_001244812.2:c.29A>G, NM_001244812.1:c.29A>G, NM_001244810.2:c.29A>G, NM_001244810.1:c.29A>G, NM_001244816.2:c.29A>G, NM_001244816.1:c.29A>G, NM_001012505.2:c.29A>G, NM_001012505.1:c.29A>G, NM_001349339.1:c.29A>G, NP_116071.2:p.Lys10Arg, NP_001336267.1:p.Lys10Arg, NP_001336270.1:p.Lys10Arg, NP_001231737.1:p.Lys10Arg, NP_001336269.1:p.Lys10Arg, NP_001231743.1:p.Lys10Arg, NP_001231741.1:p.Lys10Arg, NP_001231739.1:p.Lys10Arg, NP_001231745.1:p.Lys10Arg, NP_001012523.1:p.Lys10Arg

              7.

              rs1475000796 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:70976957 (GRCh38)
                3:71026108 (GRCh37)
                Canonical SPDI:
                NC_000003.12:70976956:T:C
                Gene:
                FOXP1 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000003.12:g.70976957T>C, NC_000003.11:g.71026108T>C, NG_028243.1:g.612033A>G, NM_032682.6:c.1514A>G, NM_032682.5:c.1514A>G, NM_001349338.3:c.1514A>G, NM_001349338.2:c.1514A>G, NM_001349338.1:c.1514A>G, NM_001349341.3:c.1511A>G, NM_001349341.2:c.1511A>G, NM_001349341.1:c.1511A>G, NM_001244808.3:c.1511A>G, NM_001244808.2:c.1511A>G, NM_001244808.1:c.1511A>G, NR_146142.3:n.2030A>G, NR_146142.2:n.2030A>G, NR_146142.1:n.2055A>G, NR_146143.3:n.2027A>G, NR_146143.2:n.2027A>G, NR_146143.1:n.2052A>G, NM_001349340.3:c.1514A>G, NM_001349340.2:c.1514A>G, NM_001349340.1:c.1514A>G, NM_001244814.3:c.1514A>G, NM_001244814.2:c.1514A>G, NM_001244814.1:c.1514A>G, NM_001244812.3:c.1286A>G, NM_001244812.2:c.1286A>G, NM_001244812.1:c.1286A>G, NM_001349342.3:c.1214A>G, NM_001349342.2:c.1214A>G, NM_001349342.1:c.1214A>G, NM_001349343.3:c.1211A>G, NM_001349343.2:c.1211A>G, NM_001349343.1:c.1211A>G, NM_001244813.3:c.1214A>G, NM_001244813.2:c.1214A>G, NM_001244813.1:c.1214A>G, NM_001349344.3:c.1211A>G, NM_001349344.2:c.1211A>G, NM_001349344.1:c.1211A>G, NM_001244810.2:c.1514A>G, NM_001244810.1:c.1514A>G, NM_001244816.2:c.1514A>G, NM_001244816.1:c.1514A>G, NM_001244815.2:c.1214A>G, NM_001244815.1:c.1520A>G, NM_001349337.2:c.1211A>G, NM_001349337.1:c.1517A>G, NM_001370548.1:c.1211A>G, NG_083034.1:g.1012T>C, NM_001349339.1:c.1514A>G, NP_116071.2:p.Asn505Ser, NP_001336267.1:p.Asn505Ser, NP_001336270.1:p.Asn504Ser, NP_001231737.1:p.Asn504Ser, NP_001336269.1:p.Asn505Ser, NP_001231743.1:p.Asn505Ser, NP_001231741.1:p.Asn429Ser, NP_001336271.1:p.Asn405Ser, NP_001336272.1:p.Asn404Ser, NP_001231742.1:p.Asn405Ser, NP_001336273.1:p.Asn404Ser, NP_001231739.1:p.Asn505Ser, NP_001231745.1:p.Asn505Ser, NP_001231744.2:p.Asn405Ser, NP_001336266.2:p.Asn404Ser, NP_001357477.1:p.Asn404Ser

                8.

                rs1473637744 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  3:71198211 (GRCh38)
                  3:71247362 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:71198210:C:A,NC_000003.12:71198210:C:T
                  Gene:
                  FOXP1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.71198211C>A, NC_000003.12:g.71198211C>T, NC_000003.11:g.71247362C>A, NC_000003.11:g.71247362C>T, NG_028243.1:g.390779G>T, NG_028243.1:g.390779G>A, NM_032682.6:c.171G>T, NM_032682.6:c.171G>A, NM_032682.5:c.171G>T, NM_032682.5:c.171G>A, NM_001349338.3:c.171G>T, NM_001349338.3:c.171G>A, NM_001349338.2:c.171G>T, NM_001349338.2:c.171G>A, NM_001349338.1:c.171G>T, NM_001349338.1:c.171G>A, NM_001349341.3:c.171G>T, NM_001349341.3:c.171G>A, NM_001349341.2:c.171G>T, NM_001349341.2:c.171G>A, NM_001349341.1:c.171G>T, NM_001349341.1:c.171G>A, NM_001244808.3:c.171G>T, NM_001244808.3:c.171G>A, NM_001244808.2:c.171G>T, NM_001244808.2:c.171G>A, NM_001244808.1:c.171G>T, NM_001244808.1:c.171G>A, NR_146142.3:n.775G>T, NR_146142.3:n.775G>A, NR_146142.2:n.775G>T, NR_146142.2:n.775G>A, NR_146142.1:n.800G>T, NR_146142.1:n.800G>A, NR_146143.3:n.775G>T, NR_146143.3:n.775G>A, NR_146143.2:n.775G>T, NR_146143.2:n.775G>A, NR_146143.1:n.800G>T, NR_146143.1:n.800G>A, NM_001349340.3:c.171G>T, NM_001349340.3:c.171G>A, NM_001349340.2:c.171G>T, NM_001349340.2:c.171G>A, NM_001349340.1:c.171G>T, NM_001349340.1:c.171G>A, NM_001244814.3:c.171G>T, NM_001244814.3:c.171G>A, NM_001244814.2:c.171G>T, NM_001244814.2:c.171G>A, NM_001244814.1:c.171G>T, NM_001244814.1:c.171G>A, NM_001244812.3:c.171G>T, NM_001244812.3:c.171G>A, NM_001244812.2:c.171G>T, NM_001244812.2:c.171G>A, NM_001244812.1:c.171G>T, NM_001244812.1:c.171G>A, NM_001244810.2:c.171G>T, NM_001244810.2:c.171G>A, NM_001244810.1:c.171G>T, NM_001244810.1:c.171G>A, NM_001244816.2:c.171G>T, NM_001244816.2:c.171G>A, NM_001244816.1:c.171G>T, NM_001244816.1:c.171G>A, NM_001012505.2:c.171G>T, NM_001012505.2:c.171G>A, NM_001012505.1:c.171G>T, NM_001012505.1:c.171G>A, NM_001349339.1:c.171G>T, NM_001349339.1:c.171G>A, NP_116071.2:p.Gln57His, NP_001336267.1:p.Gln57His, NP_001336270.1:p.Gln57His, NP_001231737.1:p.Gln57His, NP_001336269.1:p.Gln57His, NP_001231743.1:p.Gln57His, NP_001231741.1:p.Gln57His, NP_001231739.1:p.Gln57His, NP_001231745.1:p.Gln57His, NP_001012523.1:p.Gln57His

                  9.

                  rs1472132883 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:70977015 (GRCh38)
                    3:71026166 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:70977014:G:A
                    Gene:
                    FOXP1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000056/2 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.70977015G>A, NC_000003.11:g.71026166G>A, NG_028243.1:g.611975C>T, NM_032682.6:c.1456C>T, NM_032682.5:c.1456C>T, NM_001349338.3:c.1456C>T, NM_001349338.2:c.1456C>T, NM_001349338.1:c.1456C>T, NM_001349341.3:c.1453C>T, NM_001349341.2:c.1453C>T, NM_001349341.1:c.1453C>T, NM_001244808.3:c.1453C>T, NM_001244808.2:c.1453C>T, NM_001244808.1:c.1453C>T, NR_146142.3:n.1972C>T, NR_146142.2:n.1972C>T, NR_146142.1:n.1997C>T, NR_146143.3:n.1969C>T, NR_146143.2:n.1969C>T, NR_146143.1:n.1994C>T, NM_001349340.3:c.1456C>T, NM_001349340.2:c.1456C>T, NM_001349340.1:c.1456C>T, NM_001244814.3:c.1456C>T, NM_001244814.2:c.1456C>T, NM_001244814.1:c.1456C>T, NM_001244812.3:c.1228C>T, NM_001244812.2:c.1228C>T, NM_001244812.1:c.1228C>T, NM_001349342.3:c.1156C>T, NM_001349342.2:c.1156C>T, NM_001349342.1:c.1156C>T, NM_001349343.3:c.1153C>T, NM_001349343.2:c.1153C>T, NM_001349343.1:c.1153C>T, NM_001244813.3:c.1156C>T, NM_001244813.2:c.1156C>T, NM_001244813.1:c.1156C>T, NM_001349344.3:c.1153C>T, NM_001349344.2:c.1153C>T, NM_001349344.1:c.1153C>T, NM_001244810.2:c.1456C>T, NM_001244810.1:c.1456C>T, NM_001244816.2:c.1456C>T, NM_001244816.1:c.1456C>T, NM_001244815.2:c.1156C>T, NM_001244815.1:c.1462C>T, NM_001349337.2:c.1153C>T, NM_001349337.1:c.1459C>T, NM_001370548.1:c.1153C>T, NG_083034.1:g.1070G>A, NM_001349339.1:c.1456C>T

                    10.

                    rs1471309593 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:70977964 (GRCh38)
                      3:71027115 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:70977963:A:G
                      Gene:
                      FOXP1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000003.12:g.70977964A>G, NC_000003.11:g.71027115A>G, NG_028243.1:g.611026T>C, NM_032682.6:c.1212T>C, NM_032682.5:c.1212T>C, NM_001349338.3:c.1212T>C, NM_001349338.2:c.1212T>C, NM_001349338.1:c.1212T>C, NM_001349341.3:c.1209T>C, NM_001349341.2:c.1209T>C, NM_001349341.1:c.1209T>C, NM_001244808.3:c.1212T>C, NM_001244808.2:c.1212T>C, NM_001244808.1:c.1212T>C, NR_146142.3:n.1728T>C, NR_146142.2:n.1728T>C, NR_146142.1:n.1753T>C, NR_146143.3:n.1725T>C, NR_146143.2:n.1725T>C, NR_146143.1:n.1750T>C, NM_001349340.3:c.1212T>C, NM_001349340.2:c.1212T>C, NM_001349340.1:c.1212T>C, NM_001244814.3:c.1212T>C, NM_001244814.2:c.1212T>C, NM_001244814.1:c.1212T>C, NM_001244812.3:c.984T>C, NM_001244812.2:c.984T>C, NM_001244812.1:c.984T>C, NM_001349342.3:c.912T>C, NM_001349342.2:c.912T>C, NM_001349342.1:c.912T>C, NM_001349343.3:c.909T>C, NM_001349343.2:c.909T>C, NM_001349343.1:c.909T>C, NM_001244813.3:c.912T>C, NM_001244813.2:c.912T>C, NM_001244813.1:c.912T>C, NM_001349344.3:c.909T>C, NM_001349344.2:c.909T>C, NM_001349344.1:c.909T>C, NM_001244810.2:c.1212T>C, NM_001244810.1:c.1212T>C, NM_001244816.2:c.1212T>C, NM_001244816.1:c.1212T>C, NM_001244815.2:c.912T>C, NM_001244815.1:c.1218T>C, NM_001349337.2:c.909T>C, NM_001349337.1:c.1215T>C, NM_001370548.1:c.912T>C, NM_001349339.1:c.1212T>C

                      11.

                      rs1470848594 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        3:71198364 (GRCh38)
                        3:71247515 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:71198363:C:A,NC_000003.12:71198363:C:G
                        Gene:
                        FOXP1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000051/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.71198364C>A, NC_000003.12:g.71198364C>G, NC_000003.11:g.71247515C>A, NC_000003.11:g.71247515C>G, NG_028243.1:g.390626G>T, NG_028243.1:g.390626G>C, NM_032682.6:c.18G>T, NM_032682.6:c.18G>C, NM_032682.5:c.18G>T, NM_032682.5:c.18G>C, NM_001349338.3:c.18G>T, NM_001349338.3:c.18G>C, NM_001349338.2:c.18G>T, NM_001349338.2:c.18G>C, NM_001349338.1:c.18G>T, NM_001349338.1:c.18G>C, NM_001349341.3:c.18G>T, NM_001349341.3:c.18G>C, NM_001349341.2:c.18G>T, NM_001349341.2:c.18G>C, NM_001349341.1:c.18G>T, NM_001349341.1:c.18G>C, NM_001244808.3:c.18G>T, NM_001244808.3:c.18G>C, NM_001244808.2:c.18G>T, NM_001244808.2:c.18G>C, NM_001244808.1:c.18G>T, NM_001244808.1:c.18G>C, NR_146142.3:n.622G>T, NR_146142.3:n.622G>C, NR_146142.2:n.622G>T, NR_146142.2:n.622G>C, NR_146142.1:n.647G>T, NR_146142.1:n.647G>C, NR_146143.3:n.622G>T, NR_146143.3:n.622G>C, NR_146143.2:n.622G>T, NR_146143.2:n.622G>C, NR_146143.1:n.647G>T, NR_146143.1:n.647G>C, NM_001349340.3:c.18G>T, NM_001349340.3:c.18G>C, NM_001349340.2:c.18G>T, NM_001349340.2:c.18G>C, NM_001349340.1:c.18G>T, NM_001349340.1:c.18G>C, NM_001244814.3:c.18G>T, NM_001244814.3:c.18G>C, NM_001244814.2:c.18G>T, NM_001244814.2:c.18G>C, NM_001244814.1:c.18G>T, NM_001244814.1:c.18G>C, NM_001244812.3:c.18G>T, NM_001244812.3:c.18G>C, NM_001244812.2:c.18G>T, NM_001244812.2:c.18G>C, NM_001244812.1:c.18G>T, NM_001244812.1:c.18G>C, NM_001244810.2:c.18G>T, NM_001244810.2:c.18G>C, NM_001244810.1:c.18G>T, NM_001244810.1:c.18G>C, NM_001244816.2:c.18G>T, NM_001244816.2:c.18G>C, NM_001244816.1:c.18G>T, NM_001244816.1:c.18G>C, NM_001012505.2:c.18G>T, NM_001012505.2:c.18G>C, NM_001012505.1:c.18G>T, NM_001012505.1:c.18G>C, NM_001349339.1:c.18G>T, NM_001349339.1:c.18G>C

                        12.

                        rs1470336457 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          3:70959344 (GRCh38)
                          3:71008495 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:70959343:T:G
                          Gene:
                          FOXP1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          HGVS:
                          NC_000003.12:g.70959344T>G, NC_000003.11:g.71008495T>G, NG_028243.1:g.629646A>C, NM_032682.6:c.1937A>C, NM_032682.5:c.1937A>C, NM_001349338.3:c.1937A>C, NM_001349338.2:c.1937A>C, NM_001349338.1:c.1937A>C, NM_001349341.3:c.1934A>C, NM_001349341.2:c.1934A>C, NM_001349341.1:c.1934A>C, NM_001244808.3:c.1934A>C, NM_001244808.2:c.1934A>C, NM_001244808.1:c.1934A>C, NR_146142.3:n.2453A>C, NR_146142.2:n.2453A>C, NR_146142.1:n.2478A>C, NR_146143.3:n.2450A>C, NR_146143.2:n.2450A>C, NR_146143.1:n.2475A>C, NM_001349340.3:c.1937A>C, NM_001349340.2:c.1937A>C, NM_001349340.1:c.1937A>C, NM_001244814.3:c.1937A>C, NM_001244814.2:c.1937A>C, NM_001244814.1:c.1937A>C, NM_001244812.3:c.1709A>C, NM_001244812.2:c.1709A>C, NM_001244812.1:c.1709A>C, NM_001349342.3:c.1637A>C, NM_001349342.2:c.1637A>C, NM_001349342.1:c.1637A>C, NM_001349343.3:c.1634A>C, NM_001349343.2:c.1634A>C, NM_001349343.1:c.1634A>C, NM_001244813.3:c.1637A>C, NM_001244813.2:c.1637A>C, NM_001244813.1:c.1637A>C, NM_001349344.3:c.1634A>C, NM_001349344.2:c.1634A>C, NM_001349344.1:c.1634A>C, NM_001244810.2:c.1985A>C, NM_001244810.1:c.1985A>C, NM_001244816.2:c.1937A>C, NM_001244816.1:c.1937A>C, NM_001244815.2:c.1637A>C, NM_001244815.1:c.1943A>C, NM_001349337.2:c.1634A>C, NM_001349337.1:c.1940A>C, NM_001370548.1:c.1634A>C, NM_001349339.1:c.1937A>C, NM_016477.1:c.263A>C, NP_116071.2:p.Glu646Ala, NP_001336267.1:p.Glu646Ala, NP_001336270.1:p.Glu645Ala, NP_001231737.1:p.Glu645Ala, NP_001336269.1:p.Glu646Ala, NP_001231743.1:p.Glu646Ala, NP_001231741.1:p.Glu570Ala, NP_001336271.1:p.Glu546Ala, NP_001336272.1:p.Glu545Ala, NP_001231742.1:p.Glu546Ala, NP_001336273.1:p.Glu545Ala, NP_001231739.1:p.Glu662Ala, NP_001231745.1:p.Glu646Ala, NP_001231744.2:p.Glu546Ala, NP_001336266.2:p.Glu545Ala, NP_001357477.1:p.Glu545Ala

                          13.

                          rs1468570529 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            3:70977879 (GRCh38)
                            3:71027030 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:70977878:C:A,NC_000003.12:70977878:C:T
                            Gene:
                            FOXP1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.70977879C>A, NC_000003.12:g.70977879C>T, NC_000003.11:g.71027030C>A, NC_000003.11:g.71027030C>T, NG_028243.1:g.611111G>T, NG_028243.1:g.611111G>A, NM_032682.6:c.1297G>T, NM_032682.6:c.1297G>A, NM_032682.5:c.1297G>T, NM_032682.5:c.1297G>A, NM_001349338.3:c.1297G>T, NM_001349338.3:c.1297G>A, NM_001349338.2:c.1297G>T, NM_001349338.2:c.1297G>A, NM_001349338.1:c.1297G>T, NM_001349338.1:c.1297G>A, NM_001349341.3:c.1294G>T, NM_001349341.3:c.1294G>A, NM_001349341.2:c.1294G>T, NM_001349341.2:c.1294G>A, NM_001349341.1:c.1294G>T, NM_001349341.1:c.1294G>A, NM_001244808.3:c.1297G>T, NM_001244808.3:c.1297G>A, NM_001244808.2:c.1297G>T, NM_001244808.2:c.1297G>A, NM_001244808.1:c.1297G>T, NM_001244808.1:c.1297G>A, NR_146142.3:n.1813G>T, NR_146142.3:n.1813G>A, NR_146142.2:n.1813G>T, NR_146142.2:n.1813G>A, NR_146142.1:n.1838G>T, NR_146142.1:n.1838G>A, NR_146143.3:n.1810G>T, NR_146143.3:n.1810G>A, NR_146143.2:n.1810G>T, NR_146143.2:n.1810G>A, NR_146143.1:n.1835G>T, NR_146143.1:n.1835G>A, NM_001349340.3:c.1297G>T, NM_001349340.3:c.1297G>A, NM_001349340.2:c.1297G>T, NM_001349340.2:c.1297G>A, NM_001349340.1:c.1297G>T, NM_001349340.1:c.1297G>A, NM_001244814.3:c.1297G>T, NM_001244814.3:c.1297G>A, NM_001244814.2:c.1297G>T, NM_001244814.2:c.1297G>A, NM_001244814.1:c.1297G>T, NM_001244814.1:c.1297G>A, NM_001244812.3:c.1069G>T, NM_001244812.3:c.1069G>A, NM_001244812.2:c.1069G>T, NM_001244812.2:c.1069G>A, NM_001244812.1:c.1069G>T, NM_001244812.1:c.1069G>A, NM_001349342.3:c.997G>T, NM_001349342.3:c.997G>A, NM_001349342.2:c.997G>T, NM_001349342.2:c.997G>A, NM_001349342.1:c.997G>T, NM_001349342.1:c.997G>A, NM_001349343.3:c.994G>T, NM_001349343.3:c.994G>A, NM_001349343.2:c.994G>T, NM_001349343.2:c.994G>A, NM_001349343.1:c.994G>T, NM_001349343.1:c.994G>A, NM_001244813.3:c.997G>T, NM_001244813.3:c.997G>A, NM_001244813.2:c.997G>T, NM_001244813.2:c.997G>A, NM_001244813.1:c.997G>T, NM_001244813.1:c.997G>A, NM_001349344.3:c.994G>T, NM_001349344.3:c.994G>A, NM_001349344.2:c.994G>T, NM_001349344.2:c.994G>A, NM_001349344.1:c.994G>T, NM_001349344.1:c.994G>A, NM_001244810.2:c.1297G>T, NM_001244810.2:c.1297G>A, NM_001244810.1:c.1297G>T, NM_001244810.1:c.1297G>A, NM_001244816.2:c.1297G>T, NM_001244816.2:c.1297G>A, NM_001244816.1:c.1297G>T, NM_001244816.1:c.1297G>A, NM_001244815.2:c.997G>T, NM_001244815.2:c.997G>A, NM_001244815.1:c.1303G>T, NM_001244815.1:c.1303G>A, NM_001349337.2:c.994G>T, NM_001349337.2:c.994G>A, NM_001349337.1:c.1300G>T, NM_001349337.1:c.1300G>A, NM_001370548.1:c.997G>T, NM_001370548.1:c.997G>A, NM_001349339.1:c.1297G>T, NM_001349339.1:c.1297G>A, NP_116071.2:p.Gly433Ter, NP_116071.2:p.Gly433Arg, NP_001336267.1:p.Gly433Ter, NP_001336267.1:p.Gly433Arg, NP_001336270.1:p.Gly432Ter, NP_001336270.1:p.Gly432Arg, NP_001231737.1:p.Gly433Ter, NP_001231737.1:p.Gly433Arg, NP_001336269.1:p.Gly433Ter, NP_001336269.1:p.Gly433Arg, NP_001231743.1:p.Gly433Ter, NP_001231743.1:p.Gly433Arg, NP_001231741.1:p.Gly357Ter, NP_001231741.1:p.Gly357Arg, NP_001336271.1:p.Gly333Ter, NP_001336271.1:p.Gly333Arg, NP_001336272.1:p.Gly332Ter, NP_001336272.1:p.Gly332Arg, NP_001231742.1:p.Gly333Ter, NP_001231742.1:p.Gly333Arg, NP_001336273.1:p.Gly332Ter, NP_001336273.1:p.Gly332Arg, NP_001231739.1:p.Gly433Ter, NP_001231739.1:p.Gly433Arg, NP_001231745.1:p.Gly433Ter, NP_001231745.1:p.Gly433Arg, NP_001231744.2:p.Gly333Ter, NP_001231744.2:p.Gly333Arg, NP_001336266.2:p.Gly332Ter, NP_001336266.2:p.Gly332Arg, NP_001357477.1:p.Gly333Ter, NP_001357477.1:p.Gly333Arg

                            14.

                            rs1466160930 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              3:71041420 (GRCh38)
                              3:71090571 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:71041419:G:C
                              Gene:
                              FOXP1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.71041420G>C, NC_000003.11:g.71090571G>C, NG_028243.1:g.547570C>G, NM_032682.6:c.777C>G, NM_032682.5:c.777C>G, NM_001349338.3:c.777C>G, NM_001349338.2:c.777C>G, NM_001349338.1:c.777C>G, NM_001349341.3:c.774C>G, NM_001349341.2:c.774C>G, NM_001349341.1:c.774C>G, NM_001244808.3:c.777C>G, NM_001244808.2:c.777C>G, NM_001244808.1:c.777C>G, NR_146142.3:n.1381C>G, NR_146142.2:n.1381C>G, NR_146142.1:n.1406C>G, NR_146143.3:n.1378C>G, NR_146143.2:n.1378C>G, NR_146143.1:n.1403C>G, NM_001349340.3:c.777C>G, NM_001349340.2:c.777C>G, NM_001349340.1:c.777C>G, NM_001244814.3:c.777C>G, NM_001244814.2:c.777C>G, NM_001244814.1:c.777C>G, NM_001244812.3:c.549C>G, NM_001244812.2:c.549C>G, NM_001244812.1:c.549C>G, NM_001349342.3:c.477C>G, NM_001349342.2:c.477C>G, NM_001349342.1:c.477C>G, NM_001349343.3:c.474C>G, NM_001349343.2:c.474C>G, NM_001349343.1:c.474C>G, NM_001244813.3:c.477C>G, NM_001244813.2:c.477C>G, NM_001244813.1:c.477C>G, NM_001349344.3:c.474C>G, NM_001349344.2:c.474C>G, NM_001349344.1:c.474C>G, NM_001244810.2:c.777C>G, NM_001244810.1:c.777C>G, NM_001244816.2:c.777C>G, NM_001244816.1:c.777C>G, NM_001244815.2:c.477C>G, NM_001244815.1:c.783C>G, NM_001349337.2:c.474C>G, NM_001349337.1:c.780C>G, NM_001370548.1:c.477C>G, NM_001349339.1:c.777C>G

                              15.

                              rs1465191814 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                3:70977907 (GRCh38)
                                3:71027058 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:70977906:G:A,NC_000003.12:70977906:G:T
                                Gene:
                                FOXP1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000003.12:g.70977907G>A, NC_000003.12:g.70977907G>T, NC_000003.11:g.71027058G>A, NC_000003.11:g.71027058G>T, NG_028243.1:g.611083C>T, NG_028243.1:g.611083C>A, NM_032682.6:c.1269C>T, NM_032682.6:c.1269C>A, NM_032682.5:c.1269C>T, NM_032682.5:c.1269C>A, NM_001349338.3:c.1269C>T, NM_001349338.3:c.1269C>A, NM_001349338.2:c.1269C>T, NM_001349338.2:c.1269C>A, NM_001349338.1:c.1269C>T, NM_001349338.1:c.1269C>A, NM_001349341.3:c.1266C>T, NM_001349341.3:c.1266C>A, NM_001349341.2:c.1266C>T, NM_001349341.2:c.1266C>A, NM_001349341.1:c.1266C>T, NM_001349341.1:c.1266C>A, NM_001244808.3:c.1269C>T, NM_001244808.3:c.1269C>A, NM_001244808.2:c.1269C>T, NM_001244808.2:c.1269C>A, NM_001244808.1:c.1269C>T, NM_001244808.1:c.1269C>A, NR_146142.3:n.1785C>T, NR_146142.3:n.1785C>A, NR_146142.2:n.1785C>T, NR_146142.2:n.1785C>A, NR_146142.1:n.1810C>T, NR_146142.1:n.1810C>A, NR_146143.3:n.1782C>T, NR_146143.3:n.1782C>A, NR_146143.2:n.1782C>T, NR_146143.2:n.1782C>A, NR_146143.1:n.1807C>T, NR_146143.1:n.1807C>A, NM_001349340.3:c.1269C>T, NM_001349340.3:c.1269C>A, NM_001349340.2:c.1269C>T, NM_001349340.2:c.1269C>A, NM_001349340.1:c.1269C>T, NM_001349340.1:c.1269C>A, NM_001244814.3:c.1269C>T, NM_001244814.3:c.1269C>A, NM_001244814.2:c.1269C>T, NM_001244814.2:c.1269C>A, NM_001244814.1:c.1269C>T, NM_001244814.1:c.1269C>A, NM_001244812.3:c.1041C>T, NM_001244812.3:c.1041C>A, NM_001244812.2:c.1041C>T, NM_001244812.2:c.1041C>A, NM_001244812.1:c.1041C>T, NM_001244812.1:c.1041C>A, NM_001349342.3:c.969C>T, NM_001349342.3:c.969C>A, NM_001349342.2:c.969C>T, NM_001349342.2:c.969C>A, NM_001349342.1:c.969C>T, NM_001349342.1:c.969C>A, NM_001349343.3:c.966C>T, NM_001349343.3:c.966C>A, NM_001349343.2:c.966C>T, NM_001349343.2:c.966C>A, NM_001349343.1:c.966C>T, NM_001349343.1:c.966C>A, NM_001244813.3:c.969C>T, NM_001244813.3:c.969C>A, NM_001244813.2:c.969C>T, NM_001244813.2:c.969C>A, NM_001244813.1:c.969C>T, NM_001244813.1:c.969C>A, NM_001349344.3:c.966C>T, NM_001349344.3:c.966C>A, NM_001349344.2:c.966C>T, NM_001349344.2:c.966C>A, NM_001349344.1:c.966C>T, NM_001349344.1:c.966C>A, NM_001244810.2:c.1269C>T, NM_001244810.2:c.1269C>A, NM_001244810.1:c.1269C>T, NM_001244810.1:c.1269C>A, NM_001244816.2:c.1269C>T, NM_001244816.2:c.1269C>A, NM_001244816.1:c.1269C>T, NM_001244816.1:c.1269C>A, NM_001244815.2:c.969C>T, NM_001244815.2:c.969C>A, NM_001244815.1:c.1275C>T, NM_001244815.1:c.1275C>A, NM_001349337.2:c.966C>T, NM_001349337.2:c.966C>A, NM_001349337.1:c.1272C>T, NM_001349337.1:c.1272C>A, NM_001370548.1:c.969C>T, NM_001370548.1:c.969C>A, NM_001349339.1:c.1269C>T, NM_001349339.1:c.1269C>A

                                16.

                                rs1464807402 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  3:71000990 (GRCh38)
                                  3:71050141 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:71000989:T:G
                                  Gene:
                                  FOXP1 (Varview)
                                  Functional Consequence:
                                  intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.71000990T>G, NC_000003.11:g.71050141T>G, NG_028243.1:g.588000A>C, NM_032682.6:c.1044A>C, NM_032682.5:c.1044A>C, NM_001349338.3:c.1044A>C, NM_001349338.2:c.1044A>C, NM_001349338.1:c.1044A>C, NM_001349341.3:c.1041A>C, NM_001349341.2:c.1041A>C, NM_001349341.1:c.1041A>C, NM_001244808.3:c.1044A>C, NM_001244808.2:c.1044A>C, NM_001244808.1:c.1044A>C, NM_001349340.3:c.1044A>C, NM_001349340.2:c.1044A>C, NM_001349340.1:c.1044A>C, NM_001244814.3:c.1044A>C, NM_001244814.2:c.1044A>C, NM_001244814.1:c.1044A>C, NM_001244812.3:c.816A>C, NM_001244812.2:c.816A>C, NM_001244812.1:c.816A>C, NM_001349342.3:c.744A>C, NM_001349342.2:c.744A>C, NM_001349342.1:c.744A>C, NM_001349343.3:c.741A>C, NM_001349343.2:c.741A>C, NM_001349343.1:c.741A>C, NM_001244813.3:c.744A>C, NM_001244813.2:c.744A>C, NM_001244813.1:c.744A>C, NM_001349344.3:c.741A>C, NM_001349344.2:c.741A>C, NM_001349344.1:c.741A>C, NM_001244810.2:c.1044A>C, NM_001244810.1:c.1044A>C, NM_001244816.2:c.1044A>C, NM_001244816.1:c.1044A>C, NM_001244815.2:c.744A>C, NM_001244815.1:c.1050A>C, NM_001349337.2:c.741A>C, NM_001349337.1:c.1047A>C, NM_001370548.1:c.744A>C, NM_001349339.1:c.1044A>C

                                  17.

                                  rs1462904525 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    3:70972662 (GRCh38)
                                    3:71021813 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:70972661:A:G,NC_000003.12:70972661:A:T
                                    Gene:
                                    FOXP1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000047/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.70972662A>G, NC_000003.12:g.70972662A>T, NC_000003.11:g.71021813A>G, NC_000003.11:g.71021813A>T, NG_028243.1:g.616328T>C, NG_028243.1:g.616328T>A, NM_032682.6:c.1545T>C, NM_032682.6:c.1545T>A, NM_032682.5:c.1545T>C, NM_032682.5:c.1545T>A, NM_001349338.3:c.1545T>C, NM_001349338.3:c.1545T>A, NM_001349338.2:c.1545T>C, NM_001349338.2:c.1545T>A, NM_001349338.1:c.1545T>C, NM_001349338.1:c.1545T>A, NM_001349341.3:c.1542T>C, NM_001349341.3:c.1542T>A, NM_001349341.2:c.1542T>C, NM_001349341.2:c.1542T>A, NM_001349341.1:c.1542T>C, NM_001349341.1:c.1542T>A, NM_001244808.3:c.1542T>C, NM_001244808.3:c.1542T>A, NM_001244808.2:c.1542T>C, NM_001244808.2:c.1542T>A, NM_001244808.1:c.1542T>C, NM_001244808.1:c.1542T>A, NR_146142.3:n.2061T>C, NR_146142.3:n.2061T>A, NR_146142.2:n.2061T>C, NR_146142.2:n.2061T>A, NR_146142.1:n.2086T>C, NR_146142.1:n.2086T>A, NR_146143.3:n.2058T>C, NR_146143.3:n.2058T>A, NR_146143.2:n.2058T>C, NR_146143.2:n.2058T>A, NR_146143.1:n.2083T>C, NR_146143.1:n.2083T>A, NM_001349340.3:c.1545T>C, NM_001349340.3:c.1545T>A, NM_001349340.2:c.1545T>C, NM_001349340.2:c.1545T>A, NM_001349340.1:c.1545T>C, NM_001349340.1:c.1545T>A, NM_001244814.3:c.1545T>C, NM_001244814.3:c.1545T>A, NM_001244814.2:c.1545T>C, NM_001244814.2:c.1545T>A, NM_001244814.1:c.1545T>C, NM_001244814.1:c.1545T>A, NM_001244812.3:c.1317T>C, NM_001244812.3:c.1317T>A, NM_001244812.2:c.1317T>C, NM_001244812.2:c.1317T>A, NM_001244812.1:c.1317T>C, NM_001244812.1:c.1317T>A, NM_001349342.3:c.1245T>C, NM_001349342.3:c.1245T>A, NM_001349342.2:c.1245T>C, NM_001349342.2:c.1245T>A, NM_001349342.1:c.1245T>C, NM_001349342.1:c.1245T>A, NM_001349343.3:c.1242T>C, NM_001349343.3:c.1242T>A, NM_001349343.2:c.1242T>C, NM_001349343.2:c.1242T>A, NM_001349343.1:c.1242T>C, NM_001349343.1:c.1242T>A, NM_001244813.3:c.1245T>C, NM_001244813.3:c.1245T>A, NM_001244813.2:c.1245T>C, NM_001244813.2:c.1245T>A, NM_001244813.1:c.1245T>C, NM_001244813.1:c.1245T>A, NM_001349344.3:c.1242T>C, NM_001349344.3:c.1242T>A, NM_001349344.2:c.1242T>C, NM_001349344.2:c.1242T>A, NM_001349344.1:c.1242T>C, NM_001349344.1:c.1242T>A, NM_001244816.2:c.1545T>C, NM_001244816.2:c.1545T>A, NM_001244816.1:c.1545T>C, NM_001244816.1:c.1545T>A, NM_001244815.2:c.1245T>C, NM_001244815.2:c.1245T>A, NM_001244815.1:c.1551T>C, NM_001244815.1:c.1551T>A, NM_001349337.2:c.1242T>C, NM_001349337.2:c.1242T>A, NM_001349337.1:c.1548T>C, NM_001349337.1:c.1548T>A, NM_001370548.1:c.1242T>C, NM_001370548.1:c.1242T>A, NM_001349339.1:c.1545T>C, NM_001349339.1:c.1545T>A, NP_116071.2:p.His515Gln, NP_001336267.1:p.His515Gln, NP_001336270.1:p.His514Gln, NP_001231737.1:p.His514Gln, NP_001336269.1:p.His515Gln, NP_001231743.1:p.His515Gln, NP_001231741.1:p.His439Gln, NP_001336271.1:p.His415Gln, NP_001336272.1:p.His414Gln, NP_001231742.1:p.His415Gln, NP_001336273.1:p.His414Gln, NP_001231745.1:p.His515Gln, NP_001231744.2:p.His415Gln, NP_001336266.2:p.His414Gln, NP_001357477.1:p.His414Gln

                                    18.

                                    rs1456056501 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->CTTTAACA [Show Flanks]
                                      Chromosome:
                                      3:71041448 (GRCh38)
                                      3:71090600 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:71041448::CTTTAACA
                                      Gene:
                                      FOXP1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000003.12:g.71041448_71041449insCTTTAACA, NC_000003.11:g.71090599_71090600insCTTTAACA, NG_028243.1:g.547541_547542insTGTTAAAG, NM_032682.6:c.748_749insTGTTAAAG, NM_032682.5:c.748_749insTGTTAAAG, NM_001349338.3:c.748_749insTGTTAAAG, NM_001349338.2:c.748_749insTGTTAAAG, NM_001349338.1:c.748_749insTGTTAAAG, NM_001349341.3:c.745_746insTGTTAAAG, NM_001349341.2:c.745_746insTGTTAAAG, NM_001349341.1:c.745_746insTGTTAAAG, NM_001244808.3:c.748_749insTGTTAAAG, NM_001244808.2:c.748_749insTGTTAAAG, NM_001244808.1:c.748_749insTGTTAAAG, NR_146142.3:n.1352_1353insTGTTAAAG, NR_146142.2:n.1352_1353insTGTTAAAG, NR_146142.1:n.1377_1378insTGTTAAAG, NR_146143.3:n.1349_1350insTGTTAAAG, NR_146143.2:n.1349_1350insTGTTAAAG, NR_146143.1:n.1374_1375insTGTTAAAG, NM_001349340.3:c.748_749insTGTTAAAG, NM_001349340.2:c.748_749insTGTTAAAG, NM_001349340.1:c.748_749insTGTTAAAG, NM_001244814.3:c.748_749insTGTTAAAG, NM_001244814.2:c.748_749insTGTTAAAG, NM_001244814.1:c.748_749insTGTTAAAG, NM_001244812.3:c.520_521insTGTTAAAG, NM_001244812.2:c.520_521insTGTTAAAG, NM_001244812.1:c.520_521insTGTTAAAG, NM_001349342.3:c.448_449insTGTTAAAG, NM_001349342.2:c.448_449insTGTTAAAG, NM_001349342.1:c.448_449insTGTTAAAG, NM_001349343.3:c.445_446insTGTTAAAG, NM_001349343.2:c.445_446insTGTTAAAG, NM_001349343.1:c.445_446insTGTTAAAG, NM_001244813.3:c.448_449insTGTTAAAG, NM_001244813.2:c.448_449insTGTTAAAG, NM_001244813.1:c.448_449insTGTTAAAG, NM_001349344.3:c.445_446insTGTTAAAG, NM_001349344.2:c.445_446insTGTTAAAG, NM_001349344.1:c.445_446insTGTTAAAG, NM_001244810.2:c.748_749insTGTTAAAG, NM_001244810.1:c.748_749insTGTTAAAG, NM_001244816.2:c.748_749insTGTTAAAG, NM_001244816.1:c.748_749insTGTTAAAG, NM_001244815.2:c.448_449insTGTTAAAG, NM_001244815.1:c.754_755insTGTTAAAG, NM_001349337.2:c.445_446insTGTTAAAG, NM_001349337.1:c.751_752insTGTTAAAG, NM_001370548.1:c.448_449insTGTTAAAG, NM_001349339.1:c.748_749insTGTTAAAG, NP_116071.2:p.Ser250fs, NP_001336267.1:p.Ser250fs, NP_001336270.1:p.Ser249fs, NP_001231737.1:p.Ser250fs, NP_001336269.1:p.Ser250fs, NP_001231743.1:p.Ser250fs, NP_001231741.1:p.Ser174fs, NP_001336271.1:p.Ser150fs, NP_001336272.1:p.Ser149fs, NP_001231742.1:p.Ser150fs, NP_001336273.1:p.Ser149fs, NP_001231739.1:p.Ser250fs, NP_001231745.1:p.Ser250fs, NP_001231744.2:p.Ser150fs, NP_001336266.2:p.Ser149fs, NP_001357477.1:p.Ser150fs

                                      19.

                                      rs1454411756 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:70977953 (GRCh38)
                                        3:71027104 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:70977952:G:A
                                        Gene:
                                        FOXP1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.70977953G>A, NC_000003.11:g.71027104G>A, NG_028243.1:g.611037C>T, NM_032682.6:c.1223C>T, NM_032682.5:c.1223C>T, NM_001349338.3:c.1223C>T, NM_001349338.2:c.1223C>T, NM_001349338.1:c.1223C>T, NM_001349341.3:c.1220C>T, NM_001349341.2:c.1220C>T, NM_001349341.1:c.1220C>T, NM_001244808.3:c.1223C>T, NM_001244808.2:c.1223C>T, NM_001244808.1:c.1223C>T, NR_146142.3:n.1739C>T, NR_146142.2:n.1739C>T, NR_146142.1:n.1764C>T, NR_146143.3:n.1736C>T, NR_146143.2:n.1736C>T, NR_146143.1:n.1761C>T, NM_001349340.3:c.1223C>T, NM_001349340.2:c.1223C>T, NM_001349340.1:c.1223C>T, NM_001244814.3:c.1223C>T, NM_001244814.2:c.1223C>T, NM_001244814.1:c.1223C>T, NM_001244812.3:c.995C>T, NM_001244812.2:c.995C>T, NM_001244812.1:c.995C>T, NM_001349342.3:c.923C>T, NM_001349342.2:c.923C>T, NM_001349342.1:c.923C>T, NM_001349343.3:c.920C>T, NM_001349343.2:c.920C>T, NM_001349343.1:c.920C>T, NM_001244813.3:c.923C>T, NM_001244813.2:c.923C>T, NM_001244813.1:c.923C>T, NM_001349344.3:c.920C>T, NM_001349344.2:c.920C>T, NM_001349344.1:c.920C>T, NM_001244810.2:c.1223C>T, NM_001244810.1:c.1223C>T, NM_001244816.2:c.1223C>T, NM_001244816.1:c.1223C>T, NM_001244815.2:c.923C>T, NM_001244815.1:c.1229C>T, NM_001349337.2:c.920C>T, NM_001349337.1:c.1226C>T, NM_001370548.1:c.923C>T, NM_001349339.1:c.1223C>T, NP_116071.2:p.Thr408Met, NP_001336267.1:p.Thr408Met, NP_001336270.1:p.Thr407Met, NP_001231737.1:p.Thr408Met, NP_001336269.1:p.Thr408Met, NP_001231743.1:p.Thr408Met, NP_001231741.1:p.Thr332Met, NP_001336271.1:p.Thr308Met, NP_001336272.1:p.Thr307Met, NP_001231742.1:p.Thr308Met, NP_001336273.1:p.Thr307Met, NP_001231739.1:p.Thr408Met, NP_001231745.1:p.Thr408Met, NP_001231744.2:p.Thr308Met, NP_001336266.2:p.Thr307Met, NP_001357477.1:p.Thr308Met

                                        20.

                                        rs1452395069 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:71053695 (GRCh38)
                                          3:71102846 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:71053694:G:C
                                          Gene:
                                          FOXP1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          HGVS:
                                          NC_000003.12:g.71053695G>C, NC_000003.11:g.71102846G>C, NG_028243.1:g.535295C>G, NM_032682.6:c.361C>G, NM_032682.5:c.361C>G, NM_001349338.3:c.361C>G, NM_001349338.2:c.361C>G, NM_001349338.1:c.361C>G, NM_001349341.3:c.361C>G, NM_001349341.2:c.361C>G, NM_001349341.1:c.361C>G, NM_001244808.3:c.361C>G, NM_001244808.2:c.361C>G, NM_001244808.1:c.361C>G, NR_146142.3:n.965C>G, NR_146142.2:n.965C>G, NR_146142.1:n.990C>G, NR_146143.3:n.965C>G, NR_146143.2:n.965C>G, NR_146143.1:n.990C>G, NM_001349340.3:c.361C>G, NM_001349340.2:c.361C>G, NM_001349340.1:c.361C>G, NM_001244814.3:c.361C>G, NM_001244814.2:c.361C>G, NM_001244814.1:c.361C>G, NM_001349342.3:c.61C>G, NM_001349342.2:c.61C>G, NM_001349342.1:c.61C>G, NM_001349343.3:c.61C>G, NM_001349343.2:c.61C>G, NM_001349343.1:c.61C>G, NM_001244813.3:c.61C>G, NM_001244813.2:c.61C>G, NM_001244813.1:c.61C>G, NM_001349344.3:c.61C>G, NM_001349344.2:c.61C>G, NM_001349344.1:c.61C>G, NM_001244810.2:c.361C>G, NM_001244810.1:c.361C>G, NM_001244816.2:c.361C>G, NM_001244816.1:c.361C>G, NM_001244815.2:c.61C>G, NM_001244815.1:c.367C>G, NM_001349337.2:c.61C>G, NM_001349337.1:c.367C>G, NM_001370548.1:c.61C>G, NM_001349339.1:c.361C>G, NP_116071.2:p.Leu121Val, NP_001336267.1:p.Leu121Val, NP_001336270.1:p.Leu121Val, NP_001231737.1:p.Leu121Val, NP_001336269.1:p.Leu121Val, NP_001231743.1:p.Leu121Val, NP_001336271.1:p.Leu21Val, NP_001336272.1:p.Leu21Val, NP_001231742.1:p.Leu21Val, NP_001336273.1:p.Leu21Val, NP_001231739.1:p.Leu121Val, NP_001231745.1:p.Leu121Val, NP_001231744.2:p.Leu21Val, NP_001336266.2:p.Leu21Val, NP_001357477.1:p.Leu21Val

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