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Items: 1 to 20 of 454

1.

rs1490119350 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:49348775 (GRCh38)
    19:49852032 (GRCh37)
    Canonical SPDI:
    NC_000019.10:49348774:C:T
    Gene:
    TEAD2 (Varview)
    Functional Consequence:
    synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.49348775C>T, NC_000019.9:g.49852032C>T, XM_005259334.5:c.555G>A, XM_005259334.4:c.555G>A, XM_005259334.3:c.555G>A, XM_005259334.2:c.555G>A, XM_005259334.1:c.555G>A, XM_006723428.4:c.663G>A, XM_006723428.3:c.663G>A, XM_006723428.2:c.663G>A, XM_006723428.1:c.663G>A, XM_011527405.4:c.*91G>A, XM_011527405.3:c.*91G>A, XM_011527405.2:c.*91G>A, XM_011527405.1:c.*91G>A, XM_011527406.4:c.*91G>A, XM_011527406.3:c.*91G>A, XM_011527406.2:c.*91G>A, XM_011527406.1:c.*91G>A, XM_011527400.3:c.684G>A, XM_011527400.2:c.684G>A, XM_011527400.1:c.684G>A, XM_011527399.3:c.684G>A, XM_011527399.2:c.684G>A, XM_011527399.1:c.684G>A, XM_011527404.3:c.684G>A, XM_011527404.2:c.684G>A, XM_011527404.1:c.684G>A, NM_001256661.2:c.675G>A, NM_001256661.1:c.675G>A, NM_001256658.2:c.672G>A, NM_001256658.1:c.672G>A, NM_001256660.2:c.675G>A, NM_001256660.1:c.675G>A, XM_011527403.2:c.672G>A, XM_011527403.1:c.672G>A, NM_001256659.2:c.672G>A, NM_001256659.1:c.672G>A, XM_011527402.2:c.684G>A, XM_011527402.1:c.684G>A, NM_003598.2:c.663G>A, NM_003598.1:c.663G>A, NM_001256662.2:c.279G>A, NM_001256662.1:c.279G>A, XM_006723429.2:c.105G>A, XM_006723429.1:c.105G>A, XM_047439520.1:c.684G>A, XM_047439534.1:c.675G>A, XM_047439536.1:c.672G>A, XM_047439524.1:c.675G>A, XM_047439525.1:c.672G>A, XM_047439529.1:c.663G>A, XM_047439521.1:c.684G>A, XM_047439527.1:c.672G>A, XM_047439526.1:c.672G>A, XM_047439530.1:c.663G>A, XM_047439531.1:c.663G>A, XM_047439522.1:c.684G>A, XM_047439533.1:c.684G>A, XM_047439532.1:c.663G>A, XM_047439528.1:c.663G>A, XM_047439540.1:c.663G>A, XM_047439523.1:c.675G>A, XM_047439539.1:c.663G>A, XM_011527401.1:c.684G>A, XM_047439535.1:c.675G>A, XM_047439537.1:c.672G>A, XM_047439542.1:c.555G>A, XM_047439538.1:c.663G>A, XM_047439543.1:c.555G>A, XM_047439544.1:c.555G>A, XM_047439541.1:c.555G>A

    2.

    rs1484073058 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      19:49343303 (GRCh38)
      19:49846560 (GRCh37)
      Canonical SPDI:
      NC_000019.10:49343302:G:T
      Gene:
      TEAD2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000224/1 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000223/1 (Estonian)
      HGVS:
      NC_000019.10:g.49343303G>T, NC_000019.9:g.49846560G>T, XM_005259334.5:c.897C>A, XM_005259334.4:c.897C>A, XM_005259334.3:c.897C>A, XM_005259334.2:c.897C>A, XM_005259334.1:c.897C>A, XM_006723428.4:c.1005C>A, XM_006723428.3:c.1005C>A, XM_006723428.2:c.1005C>A, XM_006723428.1:c.1005C>A, XM_011527400.3:c.1026C>A, XM_011527400.2:c.1026C>A, XM_011527400.1:c.1026C>A, XM_011527399.3:c.1026C>A, XM_011527399.2:c.1026C>A, XM_011527399.1:c.1026C>A, XM_011527404.3:c.1026C>A, XM_011527404.2:c.1026C>A, XM_011527404.1:c.1026C>A, NM_001256661.2:c.1017C>A, NM_001256661.1:c.1017C>A, NM_001256658.2:c.1014C>A, NM_001256658.1:c.1014C>A, NM_001256660.2:c.1017C>A, NM_001256660.1:c.1017C>A, XM_011527403.2:c.1014C>A, XM_011527403.1:c.1014C>A, NM_001256659.2:c.1014C>A, NM_001256659.1:c.1014C>A, XM_011527402.2:c.1026C>A, XM_011527402.1:c.1026C>A, NM_003598.2:c.1005C>A, NM_003598.1:c.1005C>A, NM_001256662.2:c.621C>A, NM_001256662.1:c.621C>A, XM_006723429.2:c.447C>A, XM_006723429.1:c.447C>A, XM_047439520.1:c.1026C>A, XM_047439534.1:c.1017C>A, XM_047439536.1:c.1014C>A, XM_047439524.1:c.1017C>A, XM_047439525.1:c.1014C>A, XM_047439529.1:c.1005C>A, XM_047439521.1:c.1026C>A, XM_047439527.1:c.1014C>A, XM_047439526.1:c.1014C>A, XM_047439530.1:c.1005C>A, XM_047439531.1:c.1005C>A, XM_047439522.1:c.1026C>A, XM_047439533.1:c.1026C>A, XM_047439532.1:c.1005C>A, XM_047439528.1:c.1005C>A, XM_047439540.1:c.1005C>A, XM_047439523.1:c.1017C>A, XM_047439539.1:c.1005C>A, XM_011527401.1:c.1026C>A, XM_047439535.1:c.1017C>A, XM_047439537.1:c.1014C>A, XM_047439542.1:c.897C>A, XM_047439538.1:c.1005C>A, XM_047439543.1:c.897C>A, XM_047439544.1:c.897C>A, XM_047439541.1:c.897C>A, XP_005259391.1:p.Ser299Arg, XP_006723491.1:p.Ser335Arg, XP_011525702.1:p.Ser342Arg, XP_011525701.1:p.Ser342Arg, XP_011525706.1:p.Ser342Arg, NP_001243590.1:p.Ser339Arg, NP_001243587.1:p.Ser338Arg, NP_001243589.1:p.Ser339Arg, XP_011525705.1:p.Ser338Arg, NP_001243588.1:p.Ser338Arg, XP_011525704.1:p.Ser342Arg, NP_003589.1:p.Ser335Arg, NP_001243591.1:p.Ser207Arg, XP_006723492.1:p.Ser149Arg, XP_047295476.1:p.Ser342Arg, XP_047295490.1:p.Ser339Arg, XP_047295492.1:p.Ser338Arg, XP_047295480.1:p.Ser339Arg, XP_047295481.1:p.Ser338Arg, XP_047295485.1:p.Ser335Arg, XP_047295477.1:p.Ser342Arg, XP_047295483.1:p.Ser338Arg, XP_047295482.1:p.Ser338Arg, XP_047295486.1:p.Ser335Arg, XP_047295487.1:p.Ser335Arg, XP_047295478.1:p.Ser342Arg, XP_047295489.1:p.Ser342Arg, XP_047295488.1:p.Ser335Arg, XP_047295484.1:p.Ser335Arg, XP_047295496.1:p.Ser335Arg, XP_047295479.1:p.Ser339Arg, XP_047295495.1:p.Ser335Arg, XP_011525703.1:p.Ser342Arg, XP_047295491.1:p.Ser339Arg, XP_047295493.1:p.Ser338Arg, XP_047295498.1:p.Ser299Arg, XP_047295494.1:p.Ser335Arg, XP_047295499.1:p.Ser299Arg, XP_047295500.1:p.Ser299Arg, XP_047295497.1:p.Ser299Arg

      3.

      rs1480087374 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:49348727 (GRCh38)
        19:49851984 (GRCh37)
        Canonical SPDI:
        NC_000019.10:49348726:C:T
        Gene:
        TEAD2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000068/3 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000012/3 (GnomAD_exomes)
        T=0.000015/4 (TOPMED)
        HGVS:
        NC_000019.10:g.49348727C>T, NC_000019.9:g.49851984C>T, XM_005259334.5:c.603G>A, XM_005259334.4:c.603G>A, XM_005259334.3:c.603G>A, XM_005259334.2:c.603G>A, XM_005259334.1:c.603G>A, XM_006723428.4:c.711G>A, XM_006723428.3:c.711G>A, XM_006723428.2:c.711G>A, XM_006723428.1:c.711G>A, XM_011527400.3:c.732G>A, XM_011527400.2:c.732G>A, XM_011527400.1:c.732G>A, XM_011527399.3:c.732G>A, XM_011527399.2:c.732G>A, XM_011527399.1:c.732G>A, XM_011527404.3:c.732G>A, XM_011527404.2:c.732G>A, XM_011527404.1:c.732G>A, NM_001256661.2:c.723G>A, NM_001256661.1:c.723G>A, NM_001256658.2:c.720G>A, NM_001256658.1:c.720G>A, NM_001256660.2:c.723G>A, NM_001256660.1:c.723G>A, XM_011527403.2:c.720G>A, XM_011527403.1:c.720G>A, NM_001256659.2:c.720G>A, NM_001256659.1:c.720G>A, XM_011527402.2:c.732G>A, XM_011527402.1:c.732G>A, NM_003598.2:c.711G>A, NM_003598.1:c.711G>A, NM_001256662.2:c.327G>A, NM_001256662.1:c.327G>A, XM_006723429.2:c.153G>A, XM_006723429.1:c.153G>A, XM_047439520.1:c.732G>A, XM_047439534.1:c.723G>A, XM_047439536.1:c.720G>A, XM_047439524.1:c.723G>A, XM_047439525.1:c.720G>A, XM_047439529.1:c.711G>A, XM_047439521.1:c.732G>A, XM_047439527.1:c.720G>A, XM_047439526.1:c.720G>A, XM_047439530.1:c.711G>A, XM_047439531.1:c.711G>A, XM_047439522.1:c.732G>A, XM_047439533.1:c.732G>A, XM_047439532.1:c.711G>A, XM_047439528.1:c.711G>A, XM_047439540.1:c.711G>A, XM_047439523.1:c.723G>A, XM_047439539.1:c.711G>A, XM_011527401.1:c.732G>A, XM_047439535.1:c.723G>A, XM_047439537.1:c.720G>A, XM_047439542.1:c.603G>A, XM_047439538.1:c.711G>A, XM_047439543.1:c.603G>A, XM_047439544.1:c.603G>A, XM_047439541.1:c.603G>A

        4.

        rs1479077886 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:49355151 (GRCh38)
          19:49858408 (GRCh37)
          Canonical SPDI:
          NC_000019.10:49355150:G:A
          Gene:
          TEAD2 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.49355151G>A, NC_000019.9:g.49858408G>A, XM_005259334.5:c.416C>T, XM_005259334.4:c.416C>T, XM_005259334.3:c.416C>T, XM_005259334.2:c.416C>T, XM_005259334.1:c.416C>T, XM_006723428.4:c.524C>T, XM_006723428.3:c.524C>T, XM_006723428.2:c.524C>T, XM_006723428.1:c.524C>T, XM_011527405.4:c.545C>T, XM_011527405.3:c.545C>T, XM_011527405.2:c.545C>T, XM_011527405.1:c.545C>T, XM_011527406.4:c.536C>T, XM_011527406.3:c.536C>T, XM_011527406.2:c.536C>T, XM_011527406.1:c.536C>T, XM_011527400.3:c.545C>T, XM_011527400.2:c.545C>T, XM_011527400.1:c.545C>T, XM_011527399.3:c.545C>T, XM_011527399.2:c.545C>T, XM_011527399.1:c.545C>T, XM_011527404.3:c.545C>T, XM_011527404.2:c.545C>T, XM_011527404.1:c.545C>T, NM_001256661.2:c.536C>T, NM_001256661.1:c.536C>T, NM_001256658.2:c.533C>T, NM_001256658.1:c.533C>T, NM_001256660.2:c.536C>T, NM_001256660.1:c.536C>T, XM_011527403.2:c.533C>T, XM_011527403.1:c.533C>T, NM_001256659.2:c.533C>T, NM_001256659.1:c.533C>T, XM_011527402.2:c.545C>T, XM_011527402.1:c.545C>T, NM_003598.2:c.524C>T, NM_003598.1:c.524C>T, NM_001256662.2:c.140C>T, NM_001256662.1:c.140C>T, XM_047439520.1:c.545C>T, XM_047439534.1:c.536C>T, XM_047439536.1:c.533C>T, XM_047439524.1:c.536C>T, XM_047439525.1:c.533C>T, XM_047439529.1:c.524C>T, XM_047439521.1:c.545C>T, XM_047439527.1:c.533C>T, XM_047439526.1:c.533C>T, XM_047439530.1:c.524C>T, XM_047439531.1:c.524C>T, XM_047439522.1:c.545C>T, XM_047439533.1:c.545C>T, XM_047439532.1:c.524C>T, XM_047439528.1:c.524C>T, XM_047439540.1:c.524C>T, XM_047439523.1:c.536C>T, XM_047439539.1:c.524C>T, XM_011527401.1:c.545C>T, XM_047439535.1:c.536C>T, XM_047439537.1:c.533C>T, XM_047439542.1:c.416C>T, XM_047439538.1:c.524C>T, XM_047439543.1:c.416C>T, XM_047439544.1:c.416C>T, XM_047439541.1:c.416C>T, XP_005259391.1:p.Pro139Leu, XP_006723491.1:p.Pro175Leu, XP_011525707.1:p.Pro182Leu, XP_011525708.1:p.Pro179Leu, XP_011525702.1:p.Pro182Leu, XP_011525701.1:p.Pro182Leu, XP_011525706.1:p.Pro182Leu, NP_001243590.1:p.Pro179Leu, NP_001243587.1:p.Pro178Leu, NP_001243589.1:p.Pro179Leu, XP_011525705.1:p.Pro178Leu, NP_001243588.1:p.Pro178Leu, XP_011525704.1:p.Pro182Leu, NP_003589.1:p.Pro175Leu, NP_001243591.1:p.Pro47Leu, XP_047295476.1:p.Pro182Leu, XP_047295490.1:p.Pro179Leu, XP_047295492.1:p.Pro178Leu, XP_047295480.1:p.Pro179Leu, XP_047295481.1:p.Pro178Leu, XP_047295485.1:p.Pro175Leu, XP_047295477.1:p.Pro182Leu, XP_047295483.1:p.Pro178Leu, XP_047295482.1:p.Pro178Leu, XP_047295486.1:p.Pro175Leu, XP_047295487.1:p.Pro175Leu, XP_047295478.1:p.Pro182Leu, XP_047295489.1:p.Pro182Leu, XP_047295488.1:p.Pro175Leu, XP_047295484.1:p.Pro175Leu, XP_047295496.1:p.Pro175Leu, XP_047295479.1:p.Pro179Leu, XP_047295495.1:p.Pro175Leu, XP_011525703.1:p.Pro182Leu, XP_047295491.1:p.Pro179Leu, XP_047295493.1:p.Pro178Leu, XP_047295498.1:p.Pro139Leu, XP_047295494.1:p.Pro175Leu, XP_047295499.1:p.Pro139Leu, XP_047295500.1:p.Pro139Leu, XP_047295497.1:p.Pro139Leu

          5.

          rs1477401233 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:49355363 (GRCh38)
            19:49858620 (GRCh37)
            Canonical SPDI:
            NC_000019.10:49355362:C:T
            Gene:
            TEAD2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000019.10:g.49355363C>T, NC_000019.9:g.49858620C>T, XM_006723428.4:c.417G>A, XM_006723428.3:c.417G>A, XM_006723428.2:c.417G>A, XM_006723428.1:c.417G>A, XM_011527405.4:c.429G>A, XM_011527405.3:c.429G>A, XM_011527405.2:c.429G>A, XM_011527405.1:c.429G>A, XM_011527406.4:c.429G>A, XM_011527406.3:c.429G>A, XM_011527406.2:c.429G>A, XM_011527406.1:c.429G>A, XM_011527400.3:c.429G>A, XM_011527400.2:c.429G>A, XM_011527400.1:c.429G>A, XM_011527399.3:c.429G>A, XM_011527399.2:c.429G>A, XM_011527399.1:c.429G>A, XM_011527404.3:c.429G>A, XM_011527404.2:c.429G>A, XM_011527404.1:c.429G>A, NM_001256661.2:c.429G>A, NM_001256661.1:c.429G>A, NM_001256658.2:c.417G>A, NM_001256658.1:c.417G>A, NM_001256660.2:c.429G>A, NM_001256660.1:c.429G>A, XM_011527403.2:c.417G>A, XM_011527403.1:c.417G>A, NM_001256659.2:c.417G>A, NM_001256659.1:c.417G>A, XM_011527402.2:c.429G>A, XM_011527402.1:c.429G>A, NM_003598.2:c.417G>A, NM_003598.1:c.417G>A, NM_001256662.2:c.24G>A, NM_001256662.1:c.24G>A, XM_047439520.1:c.429G>A, XM_047439534.1:c.429G>A, XM_047439536.1:c.417G>A, XM_047439524.1:c.429G>A, XM_047439525.1:c.417G>A, XM_047439529.1:c.417G>A, XM_047439521.1:c.429G>A, XM_047439527.1:c.417G>A, XM_047439526.1:c.417G>A, XM_047439530.1:c.417G>A, XM_047439531.1:c.417G>A, XM_047439522.1:c.429G>A, XM_047439533.1:c.429G>A, XM_047439532.1:c.417G>A, XM_047439528.1:c.417G>A, XM_047439540.1:c.417G>A, XM_047439523.1:c.429G>A, XM_047439539.1:c.417G>A, XM_011527401.1:c.429G>A, XM_047439535.1:c.429G>A, XM_047439537.1:c.417G>A, XM_047439538.1:c.417G>A

            6.

            rs1475356406 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:49355340 (GRCh38)
              19:49858597 (GRCh37)
              Canonical SPDI:
              NC_000019.10:49355339:T:C
              Gene:
              TEAD2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000019.10:g.49355340T>C, NC_000019.9:g.49858597T>C, XM_006723428.4:c.440A>G, XM_006723428.3:c.440A>G, XM_006723428.2:c.440A>G, XM_006723428.1:c.440A>G, XM_011527405.4:c.452A>G, XM_011527405.3:c.452A>G, XM_011527405.2:c.452A>G, XM_011527405.1:c.452A>G, XM_011527406.4:c.452A>G, XM_011527406.3:c.452A>G, XM_011527406.2:c.452A>G, XM_011527406.1:c.452A>G, XM_011527400.3:c.452A>G, XM_011527400.2:c.452A>G, XM_011527400.1:c.452A>G, XM_011527399.3:c.452A>G, XM_011527399.2:c.452A>G, XM_011527399.1:c.452A>G, XM_011527404.3:c.452A>G, XM_011527404.2:c.452A>G, XM_011527404.1:c.452A>G, NM_001256661.2:c.452A>G, NM_001256661.1:c.452A>G, NM_001256658.2:c.440A>G, NM_001256658.1:c.440A>G, NM_001256660.2:c.452A>G, NM_001256660.1:c.452A>G, XM_011527403.2:c.440A>G, XM_011527403.1:c.440A>G, NM_001256659.2:c.440A>G, NM_001256659.1:c.440A>G, XM_011527402.2:c.452A>G, XM_011527402.1:c.452A>G, NM_003598.2:c.440A>G, NM_003598.1:c.440A>G, NM_001256662.2:c.47A>G, NM_001256662.1:c.47A>G, XM_047439520.1:c.452A>G, XM_047439534.1:c.452A>G, XM_047439536.1:c.440A>G, XM_047439524.1:c.452A>G, XM_047439525.1:c.440A>G, XM_047439529.1:c.440A>G, XM_047439521.1:c.452A>G, XM_047439527.1:c.440A>G, XM_047439526.1:c.440A>G, XM_047439530.1:c.440A>G, XM_047439531.1:c.440A>G, XM_047439522.1:c.452A>G, XM_047439533.1:c.452A>G, XM_047439532.1:c.440A>G, XM_047439528.1:c.440A>G, XM_047439540.1:c.440A>G, XM_047439523.1:c.452A>G, XM_047439539.1:c.440A>G, XM_011527401.1:c.452A>G, XM_047439535.1:c.452A>G, XM_047439537.1:c.440A>G, XM_047439538.1:c.440A>G, XP_006723491.1:p.Gln147Arg, XP_011525707.1:p.Gln151Arg, XP_011525708.1:p.Gln151Arg, XP_011525702.1:p.Gln151Arg, XP_011525701.1:p.Gln151Arg, XP_011525706.1:p.Gln151Arg, NP_001243590.1:p.Gln151Arg, NP_001243587.1:p.Gln147Arg, NP_001243589.1:p.Gln151Arg, XP_011525705.1:p.Gln147Arg, NP_001243588.1:p.Gln147Arg, XP_011525704.1:p.Gln151Arg, NP_003589.1:p.Gln147Arg, NP_001243591.1:p.Gln16Arg, XP_047295476.1:p.Gln151Arg, XP_047295490.1:p.Gln151Arg, XP_047295492.1:p.Gln147Arg, XP_047295480.1:p.Gln151Arg, XP_047295481.1:p.Gln147Arg, XP_047295485.1:p.Gln147Arg, XP_047295477.1:p.Gln151Arg, XP_047295483.1:p.Gln147Arg, XP_047295482.1:p.Gln147Arg, XP_047295486.1:p.Gln147Arg, XP_047295487.1:p.Gln147Arg, XP_047295478.1:p.Gln151Arg, XP_047295489.1:p.Gln151Arg, XP_047295488.1:p.Gln147Arg, XP_047295484.1:p.Gln147Arg, XP_047295496.1:p.Gln147Arg, XP_047295479.1:p.Gln151Arg, XP_047295495.1:p.Gln147Arg, XP_011525703.1:p.Gln151Arg, XP_047295491.1:p.Gln151Arg, XP_047295493.1:p.Gln147Arg, XP_047295494.1:p.Gln147Arg

              7.

              rs1474150814 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:49341378 (GRCh38)
                19:49844635 (GRCh37)
                Canonical SPDI:
                NC_000019.10:49341377:G:A
                Gene:
                TEAD2 (Varview), SLC6A16 (Varview)
                Functional Consequence:
                2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                A=0.000342/1 (KOREAN)
                HGVS:
                NC_000019.10:g.49341378G>A, NC_000019.9:g.49844635G>A, NG_033941.1:g.10959G>A, XM_005259334.5:c.1182C>T, XM_005259334.4:c.1182C>T, XM_005259334.3:c.1182C>T, XM_005259334.2:c.1182C>T, XM_005259334.1:c.1182C>T, XM_006723428.4:c.1251C>T, XM_006723428.3:c.1251C>T, XM_006723428.2:c.1251C>T, XM_006723428.1:c.1251C>T, XM_011527400.3:c.1311C>T, XM_011527400.2:c.1311C>T, XM_011527400.1:c.1311C>T, XM_011527399.3:c.1311C>T, XM_011527399.2:c.1311C>T, XM_011527399.1:c.1311C>T, XM_011527404.3:c.1272C>T, XM_011527404.2:c.1272C>T, XM_011527404.1:c.1272C>T, NM_001256661.2:c.1302C>T, NM_001256661.1:c.1302C>T, NM_001256658.2:c.1299C>T, NM_001256658.1:c.1299C>T, NM_001256660.2:c.1302C>T, NM_001256660.1:c.1302C>T, XM_011527403.2:c.1299C>T, XM_011527403.1:c.1299C>T, NM_001256659.2:c.1299C>T, NM_001256659.1:c.1299C>T, XM_011527402.2:c.1311C>T, XM_011527402.1:c.1311C>T, NM_003598.2:c.1290C>T, NM_003598.1:c.1290C>T, NM_001256662.2:c.906C>T, NM_001256662.1:c.906C>T, XM_006723429.2:c.732C>T, XM_006723429.1:c.732C>T, XM_047439520.1:c.1311C>T, XM_047439534.1:c.1263C>T, XM_047439536.1:c.1260C>T, XM_047439524.1:c.1302C>T, XM_047439525.1:c.1299C>T, XM_047439529.1:c.1290C>T, XM_047439521.1:c.1311C>T, XM_047439527.1:c.1299C>T, XM_047439526.1:c.1299C>T, XM_047439530.1:c.1290C>T, XM_047439531.1:c.1290C>T, XM_047439522.1:c.1311C>T, XM_047439533.1:c.1272C>T, XM_047439532.1:c.1290C>T, XM_047439528.1:c.1290C>T, XM_047439540.1:c.1251C>T, XM_047439523.1:c.1302C>T, XM_047439539.1:c.1251C>T, XM_011527401.1:c.1311C>T, XM_047439535.1:c.1263C>T, XM_047439537.1:c.1260C>T, XM_047439542.1:c.1182C>T, XM_047439538.1:c.1251C>T, XM_047439543.1:c.1182C>T, XM_047439544.1:c.1143C>T, XM_047439541.1:c.1182C>T

                8.

                rs1474080670 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,G [Show Flanks]
                  Chromosome:
                  19:49360067 (GRCh38)
                  19:49863324 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:49360066:T:A,NC_000019.10:49360066:T:G
                  Gene:
                  TEAD2 (Varview), DKKL1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  G=0.004913/9 (Korea1K)
                  HGVS:
                  NC_000019.10:g.49360067T>A, NC_000019.10:g.49360067T>G, NC_000019.9:g.49863324T>A, NC_000019.9:g.49863324T>G, XM_005259334.5:c.9A>T, XM_005259334.5:c.9A>C, XM_005259334.4:c.9A>T, XM_005259334.4:c.9A>C, XM_005259334.3:c.9A>T, XM_005259334.3:c.9A>C, XM_005259334.2:c.9A>T, XM_005259334.2:c.9A>C, XM_005259334.1:c.9A>T, XM_005259334.1:c.9A>C, XM_006723428.4:c.9A>T, XM_006723428.4:c.9A>C, XM_006723428.3:c.9A>T, XM_006723428.3:c.9A>C, XM_006723428.2:c.9A>T, XM_006723428.2:c.9A>C, XM_006723428.1:c.9A>T, XM_006723428.1:c.9A>C, XM_011527405.4:c.9A>T, XM_011527405.4:c.9A>C, XM_011527405.3:c.9A>T, XM_011527405.3:c.9A>C, XM_011527405.2:c.9A>T, XM_011527405.2:c.9A>C, XM_011527405.1:c.9A>T, XM_011527405.1:c.9A>C, XM_011527406.4:c.9A>T, XM_011527406.4:c.9A>C, XM_011527406.3:c.9A>T, XM_011527406.3:c.9A>C, XM_011527406.2:c.9A>T, XM_011527406.2:c.9A>C, XM_011527406.1:c.9A>T, XM_011527406.1:c.9A>C, XM_011527400.3:c.9A>T, XM_011527400.3:c.9A>C, XM_011527400.2:c.9A>T, XM_011527400.2:c.9A>C, XM_011527400.1:c.9A>T, XM_011527400.1:c.9A>C, XM_011527399.3:c.9A>T, XM_011527399.3:c.9A>C, XM_011527399.2:c.9A>T, XM_011527399.2:c.9A>C, XM_011527399.1:c.9A>T, XM_011527399.1:c.9A>C, XM_011527404.3:c.9A>T, XM_011527404.3:c.9A>C, XM_011527404.2:c.9A>T, XM_011527404.2:c.9A>C, XM_011527404.1:c.9A>T, XM_011527404.1:c.9A>C, NM_001256661.2:c.9A>T, NM_001256661.2:c.9A>C, NM_001256661.1:c.9A>T, NM_001256661.1:c.9A>C, NM_001256658.2:c.9A>T, NM_001256658.2:c.9A>C, NM_001256658.1:c.9A>T, NM_001256658.1:c.9A>C, NM_001256660.2:c.9A>T, NM_001256660.2:c.9A>C, NM_001256660.1:c.9A>T, NM_001256660.1:c.9A>C, XM_011527403.2:c.9A>T, XM_011527403.2:c.9A>C, XM_011527403.1:c.9A>T, XM_011527403.1:c.9A>C, NM_001256659.2:c.9A>T, NM_001256659.2:c.9A>C, NM_001256659.1:c.9A>T, NM_001256659.1:c.9A>C, XM_011527402.2:c.9A>T, XM_011527402.2:c.9A>C, XM_011527402.1:c.9A>T, XM_011527402.1:c.9A>C, NM_003598.2:c.9A>T, NM_003598.2:c.9A>C, NM_003598.1:c.9A>T, NM_003598.1:c.9A>C, XM_047439520.1:c.9A>T, XM_047439520.1:c.9A>C, XM_047439534.1:c.9A>T, XM_047439534.1:c.9A>C, XM_047439536.1:c.9A>T, XM_047439536.1:c.9A>C, XM_047439524.1:c.9A>T, XM_047439524.1:c.9A>C, XM_047439525.1:c.9A>T, XM_047439525.1:c.9A>C, XM_047439529.1:c.9A>T, XM_047439529.1:c.9A>C, XM_047439521.1:c.9A>T, XM_047439521.1:c.9A>C, XM_047439527.1:c.9A>T, XM_047439527.1:c.9A>C, XM_047439526.1:c.9A>T, XM_047439526.1:c.9A>C, XM_047439530.1:c.9A>T, XM_047439530.1:c.9A>C, XM_047439531.1:c.9A>T, XM_047439531.1:c.9A>C, XM_047439522.1:c.9A>T, XM_047439522.1:c.9A>C, XM_047439533.1:c.9A>T, XM_047439533.1:c.9A>C, XM_047439532.1:c.9A>T, XM_047439532.1:c.9A>C, XM_047439528.1:c.9A>T, XM_047439528.1:c.9A>C, XM_047439540.1:c.9A>T, XM_047439540.1:c.9A>C, XM_047439523.1:c.9A>T, XM_047439523.1:c.9A>C, XM_047439539.1:c.9A>T, XM_047439539.1:c.9A>C, XM_011527401.1:c.9A>T, XM_011527401.1:c.9A>C, XM_047439535.1:c.9A>T, XM_047439535.1:c.9A>C, XM_047439537.1:c.9A>T, XM_047439537.1:c.9A>C, XM_047439542.1:c.9A>T, XM_047439542.1:c.9A>C, XM_047439538.1:c.9A>T, XM_047439538.1:c.9A>C, XM_047439543.1:c.9A>T, XM_047439543.1:c.9A>C, XM_047439544.1:c.9A>T, XM_047439544.1:c.9A>C, XM_047439541.1:c.9A>T, XM_047439541.1:c.9A>C, XP_005259391.1:p.Glu3Asp, XP_005259391.1:p.Glu3Asp, XP_006723491.1:p.Glu3Asp, XP_006723491.1:p.Glu3Asp, XP_011525707.1:p.Glu3Asp, XP_011525707.1:p.Glu3Asp, XP_011525708.1:p.Glu3Asp, XP_011525708.1:p.Glu3Asp, XP_011525702.1:p.Glu3Asp, XP_011525702.1:p.Glu3Asp, XP_011525701.1:p.Glu3Asp, XP_011525701.1:p.Glu3Asp, XP_011525706.1:p.Glu3Asp, XP_011525706.1:p.Glu3Asp, NP_001243590.1:p.Glu3Asp, NP_001243590.1:p.Glu3Asp, NP_001243587.1:p.Glu3Asp, NP_001243587.1:p.Glu3Asp, NP_001243589.1:p.Glu3Asp, NP_001243589.1:p.Glu3Asp, XP_011525705.1:p.Glu3Asp, XP_011525705.1:p.Glu3Asp, NP_001243588.1:p.Glu3Asp, NP_001243588.1:p.Glu3Asp, XP_011525704.1:p.Glu3Asp, XP_011525704.1:p.Glu3Asp, NP_003589.1:p.Glu3Asp, NP_003589.1:p.Glu3Asp, XP_047295476.1:p.Glu3Asp, XP_047295476.1:p.Glu3Asp, XP_047295490.1:p.Glu3Asp, XP_047295490.1:p.Glu3Asp, XP_047295492.1:p.Glu3Asp, XP_047295492.1:p.Glu3Asp, XP_047295480.1:p.Glu3Asp, XP_047295480.1:p.Glu3Asp, XP_047295481.1:p.Glu3Asp, XP_047295481.1:p.Glu3Asp, XP_047295485.1:p.Glu3Asp, XP_047295485.1:p.Glu3Asp, XP_047295477.1:p.Glu3Asp, XP_047295477.1:p.Glu3Asp, XP_047295483.1:p.Glu3Asp, XP_047295483.1:p.Glu3Asp, XP_047295482.1:p.Glu3Asp, XP_047295482.1:p.Glu3Asp, XP_047295486.1:p.Glu3Asp, XP_047295486.1:p.Glu3Asp, XP_047295487.1:p.Glu3Asp, XP_047295487.1:p.Glu3Asp, XP_047295478.1:p.Glu3Asp, XP_047295478.1:p.Glu3Asp, XP_047295489.1:p.Glu3Asp, XP_047295489.1:p.Glu3Asp, XP_047295488.1:p.Glu3Asp, XP_047295488.1:p.Glu3Asp, XP_047295484.1:p.Glu3Asp, XP_047295484.1:p.Glu3Asp, XP_047295496.1:p.Glu3Asp, XP_047295496.1:p.Glu3Asp, XP_047295479.1:p.Glu3Asp, XP_047295479.1:p.Glu3Asp, XP_047295495.1:p.Glu3Asp, XP_047295495.1:p.Glu3Asp, XP_011525703.1:p.Glu3Asp, XP_011525703.1:p.Glu3Asp, XP_047295491.1:p.Glu3Asp, XP_047295491.1:p.Glu3Asp, XP_047295493.1:p.Glu3Asp, XP_047295493.1:p.Glu3Asp, XP_047295498.1:p.Glu3Asp, XP_047295498.1:p.Glu3Asp, XP_047295494.1:p.Glu3Asp, XP_047295494.1:p.Glu3Asp, XP_047295499.1:p.Glu3Asp, XP_047295499.1:p.Glu3Asp, XP_047295500.1:p.Glu3Asp, XP_047295500.1:p.Glu3Asp, XP_047295497.1:p.Glu3Asp, XP_047295497.1:p.Glu3Asp

                  9.

                  rs1472995401 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:49359875 (GRCh38)
                    19:49863132 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:49359874:T:C
                    Gene:
                    TEAD2 (Varview), DKKL1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000012/3 (GnomAD_exomes)
                    C=0.000015/4 (TOPMED)
                    C=0.000043/6 (GnomAD)
                    HGVS:
                    NC_000019.10:g.49359875T>C, NC_000019.9:g.49863132T>C, XM_005259334.5:c.201A>G, XM_005259334.4:c.201A>G, XM_005259334.3:c.201A>G, XM_005259334.2:c.201A>G, XM_005259334.1:c.201A>G, XM_006723428.4:c.201A>G, XM_006723428.3:c.201A>G, XM_006723428.2:c.201A>G, XM_006723428.1:c.201A>G, XM_011527405.4:c.201A>G, XM_011527405.3:c.201A>G, XM_011527405.2:c.201A>G, XM_011527405.1:c.201A>G, XM_011527406.4:c.201A>G, XM_011527406.3:c.201A>G, XM_011527406.2:c.201A>G, XM_011527406.1:c.201A>G, XM_011527400.3:c.201A>G, XM_011527400.2:c.201A>G, XM_011527400.1:c.201A>G, XM_011527399.3:c.201A>G, XM_011527399.2:c.201A>G, XM_011527399.1:c.201A>G, XM_011527404.3:c.201A>G, XM_011527404.2:c.201A>G, XM_011527404.1:c.201A>G, NM_001256661.2:c.201A>G, NM_001256661.1:c.201A>G, NM_001256658.2:c.201A>G, NM_001256658.1:c.201A>G, NM_001256660.2:c.201A>G, NM_001256660.1:c.201A>G, XM_011527403.2:c.201A>G, XM_011527403.1:c.201A>G, NM_001256659.2:c.201A>G, NM_001256659.1:c.201A>G, XM_011527402.2:c.201A>G, XM_011527402.1:c.201A>G, NM_003598.2:c.201A>G, NM_003598.1:c.201A>G, XM_047439520.1:c.201A>G, XM_047439534.1:c.201A>G, XM_047439536.1:c.201A>G, XM_047439524.1:c.201A>G, XM_047439525.1:c.201A>G, XM_047439529.1:c.201A>G, XM_047439521.1:c.201A>G, XM_047439527.1:c.201A>G, XM_047439526.1:c.201A>G, XM_047439530.1:c.201A>G, XM_047439531.1:c.201A>G, XM_047439522.1:c.201A>G, XM_047439533.1:c.201A>G, XM_047439532.1:c.201A>G, XM_047439528.1:c.201A>G, XM_047439540.1:c.201A>G, XM_047439523.1:c.201A>G, XM_047439539.1:c.201A>G, XM_011527401.1:c.201A>G, XM_047439535.1:c.201A>G, XM_047439537.1:c.201A>G, XM_047439542.1:c.201A>G, XM_047439538.1:c.201A>G, XM_047439543.1:c.201A>G, XM_047439544.1:c.201A>G, XM_047439541.1:c.201A>G

                    10.

                    rs1470684666 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      19:49360031 (GRCh38)
                      19:49863288 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:49360030:G:A,NC_000019.10:49360030:G:T
                      Gene:
                      TEAD2 (Varview), DKKL1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000019.10:g.49360031G>A, NC_000019.10:g.49360031G>T, NC_000019.9:g.49863288G>A, NC_000019.9:g.49863288G>T, XM_005259334.5:c.45C>T, XM_005259334.5:c.45C>A, XM_005259334.4:c.45C>T, XM_005259334.4:c.45C>A, XM_005259334.3:c.45C>T, XM_005259334.3:c.45C>A, XM_005259334.2:c.45C>T, XM_005259334.2:c.45C>A, XM_005259334.1:c.45C>T, XM_005259334.1:c.45C>A, XM_006723428.4:c.45C>T, XM_006723428.4:c.45C>A, XM_006723428.3:c.45C>T, XM_006723428.3:c.45C>A, XM_006723428.2:c.45C>T, XM_006723428.2:c.45C>A, XM_006723428.1:c.45C>T, XM_006723428.1:c.45C>A, XM_011527405.4:c.45C>T, XM_011527405.4:c.45C>A, XM_011527405.3:c.45C>T, XM_011527405.3:c.45C>A, XM_011527405.2:c.45C>T, XM_011527405.2:c.45C>A, XM_011527405.1:c.45C>T, XM_011527405.1:c.45C>A, XM_011527406.4:c.45C>T, XM_011527406.4:c.45C>A, XM_011527406.3:c.45C>T, XM_011527406.3:c.45C>A, XM_011527406.2:c.45C>T, XM_011527406.2:c.45C>A, XM_011527406.1:c.45C>T, XM_011527406.1:c.45C>A, XM_011527400.3:c.45C>T, XM_011527400.3:c.45C>A, XM_011527400.2:c.45C>T, XM_011527400.2:c.45C>A, XM_011527400.1:c.45C>T, XM_011527400.1:c.45C>A, XM_011527399.3:c.45C>T, XM_011527399.3:c.45C>A, XM_011527399.2:c.45C>T, XM_011527399.2:c.45C>A, XM_011527399.1:c.45C>T, XM_011527399.1:c.45C>A, XM_011527404.3:c.45C>T, XM_011527404.3:c.45C>A, XM_011527404.2:c.45C>T, XM_011527404.2:c.45C>A, XM_011527404.1:c.45C>T, XM_011527404.1:c.45C>A, NM_001256661.2:c.45C>T, NM_001256661.2:c.45C>A, NM_001256661.1:c.45C>T, NM_001256661.1:c.45C>A, NM_001256658.2:c.45C>T, NM_001256658.2:c.45C>A, NM_001256658.1:c.45C>T, NM_001256658.1:c.45C>A, NM_001256660.2:c.45C>T, NM_001256660.2:c.45C>A, NM_001256660.1:c.45C>T, NM_001256660.1:c.45C>A, XM_011527403.2:c.45C>T, XM_011527403.2:c.45C>A, XM_011527403.1:c.45C>T, XM_011527403.1:c.45C>A, NM_001256659.2:c.45C>T, NM_001256659.2:c.45C>A, NM_001256659.1:c.45C>T, NM_001256659.1:c.45C>A, XM_011527402.2:c.45C>T, XM_011527402.2:c.45C>A, XM_011527402.1:c.45C>T, XM_011527402.1:c.45C>A, NM_003598.2:c.45C>T, NM_003598.2:c.45C>A, NM_003598.1:c.45C>T, NM_003598.1:c.45C>A, XM_047439520.1:c.45C>T, XM_047439520.1:c.45C>A, XM_047439534.1:c.45C>T, XM_047439534.1:c.45C>A, XM_047439536.1:c.45C>T, XM_047439536.1:c.45C>A, XM_047439524.1:c.45C>T, XM_047439524.1:c.45C>A, XM_047439525.1:c.45C>T, XM_047439525.1:c.45C>A, XM_047439529.1:c.45C>T, XM_047439529.1:c.45C>A, XM_047439521.1:c.45C>T, XM_047439521.1:c.45C>A, XM_047439527.1:c.45C>T, XM_047439527.1:c.45C>A, XM_047439526.1:c.45C>T, XM_047439526.1:c.45C>A, XM_047439530.1:c.45C>T, XM_047439530.1:c.45C>A, XM_047439531.1:c.45C>T, XM_047439531.1:c.45C>A, XM_047439522.1:c.45C>T, XM_047439522.1:c.45C>A, XM_047439533.1:c.45C>T, XM_047439533.1:c.45C>A, XM_047439532.1:c.45C>T, XM_047439532.1:c.45C>A, XM_047439528.1:c.45C>T, XM_047439528.1:c.45C>A, XM_047439540.1:c.45C>T, XM_047439540.1:c.45C>A, XM_047439523.1:c.45C>T, XM_047439523.1:c.45C>A, XM_047439539.1:c.45C>T, XM_047439539.1:c.45C>A, XM_011527401.1:c.45C>T, XM_011527401.1:c.45C>A, XM_047439535.1:c.45C>T, XM_047439535.1:c.45C>A, XM_047439537.1:c.45C>T, XM_047439537.1:c.45C>A, XM_047439542.1:c.45C>T, XM_047439542.1:c.45C>A, XM_047439538.1:c.45C>T, XM_047439538.1:c.45C>A, XM_047439543.1:c.45C>T, XM_047439543.1:c.45C>A, XM_047439544.1:c.45C>T, XM_047439544.1:c.45C>A, XM_047439541.1:c.45C>T, XM_047439541.1:c.45C>A

                      11.

                      rs1470608814 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:49343383 (GRCh38)
                        19:49846640 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:49343382:C:T
                        Gene:
                        TEAD2 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000223/2 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.49343383C>T, NC_000019.9:g.49846640C>T, XM_005259334.5:c.817G>A, XM_005259334.4:c.817G>A, XM_005259334.3:c.817G>A, XM_005259334.2:c.817G>A, XM_005259334.1:c.817G>A, XM_006723428.4:c.925G>A, XM_006723428.3:c.925G>A, XM_006723428.2:c.925G>A, XM_006723428.1:c.925G>A, XM_011527400.3:c.946G>A, XM_011527400.2:c.946G>A, XM_011527400.1:c.946G>A, XM_011527399.3:c.946G>A, XM_011527399.2:c.946G>A, XM_011527399.1:c.946G>A, XM_011527404.3:c.946G>A, XM_011527404.2:c.946G>A, XM_011527404.1:c.946G>A, NM_001256661.2:c.937G>A, NM_001256661.1:c.937G>A, NM_001256658.2:c.934G>A, NM_001256658.1:c.934G>A, NM_001256660.2:c.937G>A, NM_001256660.1:c.937G>A, XM_011527403.2:c.934G>A, XM_011527403.1:c.934G>A, NM_001256659.2:c.934G>A, NM_001256659.1:c.934G>A, XM_011527402.2:c.946G>A, XM_011527402.1:c.946G>A, NM_003598.2:c.925G>A, NM_003598.1:c.925G>A, NM_001256662.2:c.541G>A, NM_001256662.1:c.541G>A, XM_006723429.2:c.367G>A, XM_006723429.1:c.367G>A, XM_047439520.1:c.946G>A, XM_047439534.1:c.937G>A, XM_047439536.1:c.934G>A, XM_047439524.1:c.937G>A, XM_047439525.1:c.934G>A, XM_047439529.1:c.925G>A, XM_047439521.1:c.946G>A, XM_047439527.1:c.934G>A, XM_047439526.1:c.934G>A, XM_047439530.1:c.925G>A, XM_047439531.1:c.925G>A, XM_047439522.1:c.946G>A, XM_047439533.1:c.946G>A, XM_047439532.1:c.925G>A, XM_047439528.1:c.925G>A, XM_047439540.1:c.925G>A, XM_047439523.1:c.937G>A, XM_047439539.1:c.925G>A, XM_011527401.1:c.946G>A, XM_047439535.1:c.937G>A, XM_047439537.1:c.934G>A, XM_047439542.1:c.817G>A, XM_047439538.1:c.925G>A, XM_047439543.1:c.817G>A, XM_047439544.1:c.817G>A, XM_047439541.1:c.817G>A, XP_005259391.1:p.Gly273Ser, XP_006723491.1:p.Gly309Ser, XP_011525702.1:p.Gly316Ser, XP_011525701.1:p.Gly316Ser, XP_011525706.1:p.Gly316Ser, NP_001243590.1:p.Gly313Ser, NP_001243587.1:p.Gly312Ser, NP_001243589.1:p.Gly313Ser, XP_011525705.1:p.Gly312Ser, NP_001243588.1:p.Gly312Ser, XP_011525704.1:p.Gly316Ser, NP_003589.1:p.Gly309Ser, NP_001243591.1:p.Gly181Ser, XP_006723492.1:p.Gly123Ser, XP_047295476.1:p.Gly316Ser, XP_047295490.1:p.Gly313Ser, XP_047295492.1:p.Gly312Ser, XP_047295480.1:p.Gly313Ser, XP_047295481.1:p.Gly312Ser, XP_047295485.1:p.Gly309Ser, XP_047295477.1:p.Gly316Ser, XP_047295483.1:p.Gly312Ser, XP_047295482.1:p.Gly312Ser, XP_047295486.1:p.Gly309Ser, XP_047295487.1:p.Gly309Ser, XP_047295478.1:p.Gly316Ser, XP_047295489.1:p.Gly316Ser, XP_047295488.1:p.Gly309Ser, XP_047295484.1:p.Gly309Ser, XP_047295496.1:p.Gly309Ser, XP_047295479.1:p.Gly313Ser, XP_047295495.1:p.Gly309Ser, XP_011525703.1:p.Gly316Ser, XP_047295491.1:p.Gly313Ser, XP_047295493.1:p.Gly312Ser, XP_047295498.1:p.Gly273Ser, XP_047295494.1:p.Gly309Ser, XP_047295499.1:p.Gly273Ser, XP_047295500.1:p.Gly273Ser, XP_047295497.1:p.Gly273Ser

                        12.

                        rs1462402927 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:49357274 (GRCh38)
                          19:49860531 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:49357273:C:G
                          Gene:
                          TEAD2 (Varview)
                          Functional Consequence:
                          missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.49357274C>G, NC_000019.9:g.49860531C>G, XM_005259334.5:c.338G>C, XM_005259334.4:c.338G>C, XM_005259334.3:c.338G>C, XM_005259334.2:c.338G>C, XM_005259334.1:c.338G>C, XM_006723428.4:c.338G>C, XM_006723428.3:c.338G>C, XM_006723428.2:c.338G>C, XM_006723428.1:c.338G>C, XM_011527405.4:c.338G>C, XM_011527405.3:c.338G>C, XM_011527405.2:c.338G>C, XM_011527405.1:c.338G>C, XM_011527406.4:c.338G>C, XM_011527406.3:c.338G>C, XM_011527406.2:c.338G>C, XM_011527406.1:c.338G>C, XM_011527400.3:c.338G>C, XM_011527400.2:c.338G>C, XM_011527400.1:c.338G>C, XM_011527399.3:c.338G>C, XM_011527399.2:c.338G>C, XM_011527399.1:c.338G>C, XM_011527404.3:c.338G>C, XM_011527404.2:c.338G>C, XM_011527404.1:c.338G>C, NM_001256661.2:c.338G>C, NM_001256661.1:c.338G>C, NM_001256658.2:c.338G>C, NM_001256658.1:c.338G>C, NM_001256660.2:c.338G>C, NM_001256660.1:c.338G>C, XM_011527403.2:c.338G>C, XM_011527403.1:c.338G>C, NM_001256659.2:c.338G>C, NM_001256659.1:c.338G>C, XM_011527402.2:c.338G>C, XM_011527402.1:c.338G>C, NM_003598.2:c.338G>C, NM_003598.1:c.338G>C, NM_001256662.2:c.-68G>C, NM_001256662.1:c.-68G>C, XM_047439520.1:c.338G>C, XM_047439534.1:c.338G>C, XM_047439536.1:c.338G>C, XM_047439524.1:c.338G>C, XM_047439525.1:c.338G>C, XM_047439529.1:c.338G>C, XM_047439521.1:c.338G>C, XM_047439527.1:c.338G>C, XM_047439526.1:c.338G>C, XM_047439530.1:c.338G>C, XM_047439531.1:c.338G>C, XM_047439522.1:c.338G>C, XM_047439533.1:c.338G>C, XM_047439532.1:c.338G>C, XM_047439528.1:c.338G>C, XM_047439540.1:c.338G>C, XM_047439523.1:c.338G>C, XM_047439539.1:c.338G>C, XM_011527401.1:c.338G>C, XM_047439535.1:c.338G>C, XM_047439537.1:c.338G>C, XM_047439542.1:c.338G>C, XM_047439538.1:c.338G>C, XM_047439543.1:c.338G>C, XM_047439544.1:c.338G>C, XM_047439541.1:c.338G>C, XP_005259391.1:p.Arg113Thr, XP_006723491.1:p.Arg113Thr, XP_011525707.1:p.Arg113Thr, XP_011525708.1:p.Arg113Thr, XP_011525702.1:p.Arg113Thr, XP_011525701.1:p.Arg113Thr, XP_011525706.1:p.Arg113Thr, NP_001243590.1:p.Arg113Thr, NP_001243587.1:p.Arg113Thr, NP_001243589.1:p.Arg113Thr, XP_011525705.1:p.Arg113Thr, NP_001243588.1:p.Arg113Thr, XP_011525704.1:p.Arg113Thr, NP_003589.1:p.Arg113Thr, XP_047295476.1:p.Arg113Thr, XP_047295490.1:p.Arg113Thr, XP_047295492.1:p.Arg113Thr, XP_047295480.1:p.Arg113Thr, XP_047295481.1:p.Arg113Thr, XP_047295485.1:p.Arg113Thr, XP_047295477.1:p.Arg113Thr, XP_047295483.1:p.Arg113Thr, XP_047295482.1:p.Arg113Thr, XP_047295486.1:p.Arg113Thr, XP_047295487.1:p.Arg113Thr, XP_047295478.1:p.Arg113Thr, XP_047295489.1:p.Arg113Thr, XP_047295488.1:p.Arg113Thr, XP_047295484.1:p.Arg113Thr, XP_047295496.1:p.Arg113Thr, XP_047295479.1:p.Arg113Thr, XP_047295495.1:p.Arg113Thr, XP_011525703.1:p.Arg113Thr, XP_047295491.1:p.Arg113Thr, XP_047295493.1:p.Arg113Thr, XP_047295498.1:p.Arg113Thr, XP_047295494.1:p.Arg113Thr, XP_047295499.1:p.Arg113Thr, XP_047295500.1:p.Arg113Thr, XP_047295497.1:p.Arg113Thr

                          13.

                          rs1461771915 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:49343293 (GRCh38)
                            19:49846550 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:49343292:T:C
                            Gene:
                            TEAD2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.49343293T>C, NC_000019.9:g.49846550T>C, XM_005259334.5:c.907A>G, XM_005259334.4:c.907A>G, XM_005259334.3:c.907A>G, XM_005259334.2:c.907A>G, XM_005259334.1:c.907A>G, XM_006723428.4:c.1015A>G, XM_006723428.3:c.1015A>G, XM_006723428.2:c.1015A>G, XM_006723428.1:c.1015A>G, XM_011527400.3:c.1036A>G, XM_011527400.2:c.1036A>G, XM_011527400.1:c.1036A>G, XM_011527399.3:c.1036A>G, XM_011527399.2:c.1036A>G, XM_011527399.1:c.1036A>G, XM_011527404.3:c.1036A>G, XM_011527404.2:c.1036A>G, XM_011527404.1:c.1036A>G, NM_001256661.2:c.1027A>G, NM_001256661.1:c.1027A>G, NM_001256658.2:c.1024A>G, NM_001256658.1:c.1024A>G, NM_001256660.2:c.1027A>G, NM_001256660.1:c.1027A>G, XM_011527403.2:c.1024A>G, XM_011527403.1:c.1024A>G, NM_001256659.2:c.1024A>G, NM_001256659.1:c.1024A>G, XM_011527402.2:c.1036A>G, XM_011527402.1:c.1036A>G, NM_003598.2:c.1015A>G, NM_003598.1:c.1015A>G, NM_001256662.2:c.631A>G, NM_001256662.1:c.631A>G, XM_006723429.2:c.457A>G, XM_006723429.1:c.457A>G, XM_047439520.1:c.1036A>G, XM_047439534.1:c.1027A>G, XM_047439536.1:c.1024A>G, XM_047439524.1:c.1027A>G, XM_047439525.1:c.1024A>G, XM_047439529.1:c.1015A>G, XM_047439521.1:c.1036A>G, XM_047439527.1:c.1024A>G, XM_047439526.1:c.1024A>G, XM_047439530.1:c.1015A>G, XM_047439531.1:c.1015A>G, XM_047439522.1:c.1036A>G, XM_047439533.1:c.1036A>G, XM_047439532.1:c.1015A>G, XM_047439528.1:c.1015A>G, XM_047439540.1:c.1015A>G, XM_047439523.1:c.1027A>G, XM_047439539.1:c.1015A>G, XM_011527401.1:c.1036A>G, XM_047439535.1:c.1027A>G, XM_047439537.1:c.1024A>G, XM_047439542.1:c.907A>G, XM_047439538.1:c.1015A>G, XM_047439543.1:c.907A>G, XM_047439544.1:c.907A>G, XM_047439541.1:c.907A>G, XP_005259391.1:p.Met303Val, XP_006723491.1:p.Met339Val, XP_011525702.1:p.Met346Val, XP_011525701.1:p.Met346Val, XP_011525706.1:p.Met346Val, NP_001243590.1:p.Met343Val, NP_001243587.1:p.Met342Val, NP_001243589.1:p.Met343Val, XP_011525705.1:p.Met342Val, NP_001243588.1:p.Met342Val, XP_011525704.1:p.Met346Val, NP_003589.1:p.Met339Val, NP_001243591.1:p.Met211Val, XP_006723492.1:p.Met153Val, XP_047295476.1:p.Met346Val, XP_047295490.1:p.Met343Val, XP_047295492.1:p.Met342Val, XP_047295480.1:p.Met343Val, XP_047295481.1:p.Met342Val, XP_047295485.1:p.Met339Val, XP_047295477.1:p.Met346Val, XP_047295483.1:p.Met342Val, XP_047295482.1:p.Met342Val, XP_047295486.1:p.Met339Val, XP_047295487.1:p.Met339Val, XP_047295478.1:p.Met346Val, XP_047295489.1:p.Met346Val, XP_047295488.1:p.Met339Val, XP_047295484.1:p.Met339Val, XP_047295496.1:p.Met339Val, XP_047295479.1:p.Met343Val, XP_047295495.1:p.Met339Val, XP_011525703.1:p.Met346Val, XP_047295491.1:p.Met343Val, XP_047295493.1:p.Met342Val, XP_047295498.1:p.Met303Val, XP_047295494.1:p.Met339Val, XP_047295499.1:p.Met303Val, XP_047295500.1:p.Met303Val, XP_047295497.1:p.Met303Val

                            14.

                            rs1460913826 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:49347325 (GRCh38)
                              19:49850582 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:49347324:G:A
                              Gene:
                              TEAD2 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              HGVS:
                              NC_000019.10:g.49347325G>A, NC_000019.9:g.49850582G>A, XM_005259334.5:c.666C>T, XM_005259334.4:c.666C>T, XM_005259334.3:c.666C>T, XM_005259334.2:c.666C>T, XM_005259334.1:c.666C>T, XM_006723428.4:c.774C>T, XM_006723428.3:c.774C>T, XM_006723428.2:c.774C>T, XM_006723428.1:c.774C>T, XM_011527400.3:c.795C>T, XM_011527400.2:c.795C>T, XM_011527400.1:c.795C>T, XM_011527399.3:c.795C>T, XM_011527399.2:c.795C>T, XM_011527399.1:c.795C>T, XM_011527404.3:c.795C>T, XM_011527404.2:c.795C>T, XM_011527404.1:c.795C>T, NM_001256661.2:c.786C>T, NM_001256661.1:c.786C>T, NM_001256658.2:c.783C>T, NM_001256658.1:c.783C>T, NM_001256660.2:c.786C>T, NM_001256660.1:c.786C>T, XM_011527403.2:c.783C>T, XM_011527403.1:c.783C>T, NM_001256659.2:c.783C>T, NM_001256659.1:c.783C>T, XM_011527402.2:c.795C>T, XM_011527402.1:c.795C>T, NM_003598.2:c.774C>T, NM_003598.1:c.774C>T, NM_001256662.2:c.390C>T, NM_001256662.1:c.390C>T, XM_006723429.2:c.216C>T, XM_006723429.1:c.216C>T, XM_047439520.1:c.795C>T, XM_047439534.1:c.786C>T, XM_047439536.1:c.783C>T, XM_047439524.1:c.786C>T, XM_047439525.1:c.783C>T, XM_047439529.1:c.774C>T, XM_047439521.1:c.795C>T, XM_047439527.1:c.783C>T, XM_047439526.1:c.783C>T, XM_047439530.1:c.774C>T, XM_047439531.1:c.774C>T, XM_047439522.1:c.795C>T, XM_047439533.1:c.795C>T, XM_047439532.1:c.774C>T, XM_047439528.1:c.774C>T, XM_047439540.1:c.774C>T, XM_047439523.1:c.786C>T, XM_047439539.1:c.774C>T, XM_011527401.1:c.795C>T, XM_047439535.1:c.786C>T, XM_047439537.1:c.783C>T, XM_047439542.1:c.666C>T, XM_047439538.1:c.774C>T, XM_047439543.1:c.666C>T, XM_047439544.1:c.666C>T, XM_047439541.1:c.666C>T

                              15.

                              rs1459572503 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                19:49343364 (GRCh38)
                                19:49846621 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:49343363:G:T
                                Gene:
                                TEAD2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000019.10:g.49343364G>T, NC_000019.9:g.49846621G>T, XM_005259334.5:c.836C>A, XM_005259334.4:c.836C>A, XM_005259334.3:c.836C>A, XM_005259334.2:c.836C>A, XM_005259334.1:c.836C>A, XM_006723428.4:c.944C>A, XM_006723428.3:c.944C>A, XM_006723428.2:c.944C>A, XM_006723428.1:c.944C>A, XM_011527400.3:c.965C>A, XM_011527400.2:c.965C>A, XM_011527400.1:c.965C>A, XM_011527399.3:c.965C>A, XM_011527399.2:c.965C>A, XM_011527399.1:c.965C>A, XM_011527404.3:c.965C>A, XM_011527404.2:c.965C>A, XM_011527404.1:c.965C>A, NM_001256661.2:c.956C>A, NM_001256661.1:c.956C>A, NM_001256658.2:c.953C>A, NM_001256658.1:c.953C>A, NM_001256660.2:c.956C>A, NM_001256660.1:c.956C>A, XM_011527403.2:c.953C>A, XM_011527403.1:c.953C>A, NM_001256659.2:c.953C>A, NM_001256659.1:c.953C>A, XM_011527402.2:c.965C>A, XM_011527402.1:c.965C>A, NM_003598.2:c.944C>A, NM_003598.1:c.944C>A, NM_001256662.2:c.560C>A, NM_001256662.1:c.560C>A, XM_006723429.2:c.386C>A, XM_006723429.1:c.386C>A, XM_047439520.1:c.965C>A, XM_047439534.1:c.956C>A, XM_047439536.1:c.953C>A, XM_047439524.1:c.956C>A, XM_047439525.1:c.953C>A, XM_047439529.1:c.944C>A, XM_047439521.1:c.965C>A, XM_047439527.1:c.953C>A, XM_047439526.1:c.953C>A, XM_047439530.1:c.944C>A, XM_047439531.1:c.944C>A, XM_047439522.1:c.965C>A, XM_047439533.1:c.965C>A, XM_047439532.1:c.944C>A, XM_047439528.1:c.944C>A, XM_047439540.1:c.944C>A, XM_047439523.1:c.956C>A, XM_047439539.1:c.944C>A, XM_011527401.1:c.965C>A, XM_047439535.1:c.956C>A, XM_047439537.1:c.953C>A, XM_047439542.1:c.836C>A, XM_047439538.1:c.944C>A, XM_047439543.1:c.836C>A, XM_047439544.1:c.836C>A, XM_047439541.1:c.836C>A, XP_005259391.1:p.Ala279Glu, XP_006723491.1:p.Ala315Glu, XP_011525702.1:p.Ala322Glu, XP_011525701.1:p.Ala322Glu, XP_011525706.1:p.Ala322Glu, NP_001243590.1:p.Ala319Glu, NP_001243587.1:p.Ala318Glu, NP_001243589.1:p.Ala319Glu, XP_011525705.1:p.Ala318Glu, NP_001243588.1:p.Ala318Glu, XP_011525704.1:p.Ala322Glu, NP_003589.1:p.Ala315Glu, NP_001243591.1:p.Ala187Glu, XP_006723492.1:p.Ala129Glu, XP_047295476.1:p.Ala322Glu, XP_047295490.1:p.Ala319Glu, XP_047295492.1:p.Ala318Glu, XP_047295480.1:p.Ala319Glu, XP_047295481.1:p.Ala318Glu, XP_047295485.1:p.Ala315Glu, XP_047295477.1:p.Ala322Glu, XP_047295483.1:p.Ala318Glu, XP_047295482.1:p.Ala318Glu, XP_047295486.1:p.Ala315Glu, XP_047295487.1:p.Ala315Glu, XP_047295478.1:p.Ala322Glu, XP_047295489.1:p.Ala322Glu, XP_047295488.1:p.Ala315Glu, XP_047295484.1:p.Ala315Glu, XP_047295496.1:p.Ala315Glu, XP_047295479.1:p.Ala319Glu, XP_047295495.1:p.Ala315Glu, XP_011525703.1:p.Ala322Glu, XP_047295491.1:p.Ala319Glu, XP_047295493.1:p.Ala318Glu, XP_047295498.1:p.Ala279Glu, XP_047295494.1:p.Ala315Glu, XP_047295499.1:p.Ala279Glu, XP_047295500.1:p.Ala279Glu, XP_047295497.1:p.Ala279Glu

                                16.

                                rs1455580724 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:49351301 (GRCh38)
                                  19:49854558 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:49351300:C:T
                                  Gene:
                                  TEAD2 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                  HGVS:
                                  NC_000019.10:g.49351301C>T, NC_000019.9:g.49854558C>T, XM_005259334.5:c.484G>A, XM_005259334.4:c.484G>A, XM_005259334.3:c.484G>A, XM_005259334.2:c.484G>A, XM_005259334.1:c.484G>A, XM_006723428.4:c.592G>A, XM_006723428.3:c.592G>A, XM_006723428.2:c.592G>A, XM_006723428.1:c.592G>A, XM_011527405.4:c.613G>A, XM_011527405.3:c.613G>A, XM_011527405.2:c.613G>A, XM_011527405.1:c.613G>A, XM_011527406.4:c.604G>A, XM_011527406.3:c.604G>A, XM_011527406.2:c.604G>A, XM_011527406.1:c.604G>A, XM_011527400.3:c.613G>A, XM_011527400.2:c.613G>A, XM_011527400.1:c.613G>A, XM_011527399.3:c.613G>A, XM_011527399.2:c.613G>A, XM_011527399.1:c.613G>A, XM_011527404.3:c.613G>A, XM_011527404.2:c.613G>A, XM_011527404.1:c.613G>A, NM_001256661.2:c.604G>A, NM_001256661.1:c.604G>A, NM_001256658.2:c.601G>A, NM_001256658.1:c.601G>A, NM_001256660.2:c.604G>A, NM_001256660.1:c.604G>A, XM_011527403.2:c.601G>A, XM_011527403.1:c.601G>A, NM_001256659.2:c.601G>A, NM_001256659.1:c.601G>A, XM_011527402.2:c.613G>A, XM_011527402.1:c.613G>A, NM_003598.2:c.592G>A, NM_003598.1:c.592G>A, NM_001256662.2:c.208G>A, NM_001256662.1:c.208G>A, XM_006723429.2:c.-70G>A, XM_047439520.1:c.613G>A, XM_047439534.1:c.604G>A, XM_047439536.1:c.601G>A, XM_047439524.1:c.604G>A, XM_047439525.1:c.601G>A, XM_047439529.1:c.592G>A, XM_047439521.1:c.613G>A, XM_047439527.1:c.601G>A, XM_047439526.1:c.601G>A, XM_047439530.1:c.592G>A, XM_047439531.1:c.592G>A, XM_047439522.1:c.613G>A, XM_047439533.1:c.613G>A, XM_047439532.1:c.592G>A, XM_047439528.1:c.592G>A, XM_047439540.1:c.592G>A, XM_047439523.1:c.604G>A, XM_047439539.1:c.592G>A, XM_011527401.1:c.613G>A, XM_047439535.1:c.604G>A, XM_047439537.1:c.601G>A, XM_047439542.1:c.484G>A, XM_047439538.1:c.592G>A, XM_047439543.1:c.484G>A, XM_047439544.1:c.484G>A, XM_047439541.1:c.484G>A, XP_005259391.1:p.Gly162Arg, XP_006723491.1:p.Gly198Arg, XP_011525707.1:p.Gly205Arg, XP_011525708.1:p.Gly202Arg, XP_011525702.1:p.Gly205Arg, XP_011525701.1:p.Gly205Arg, XP_011525706.1:p.Gly205Arg, NP_001243590.1:p.Gly202Arg, NP_001243587.1:p.Gly201Arg, NP_001243589.1:p.Gly202Arg, XP_011525705.1:p.Gly201Arg, NP_001243588.1:p.Gly201Arg, XP_011525704.1:p.Gly205Arg, NP_003589.1:p.Gly198Arg, NP_001243591.1:p.Gly70Arg, XP_047295476.1:p.Gly205Arg, XP_047295490.1:p.Gly202Arg, XP_047295492.1:p.Gly201Arg, XP_047295480.1:p.Gly202Arg, XP_047295481.1:p.Gly201Arg, XP_047295485.1:p.Gly198Arg, XP_047295477.1:p.Gly205Arg, XP_047295483.1:p.Gly201Arg, XP_047295482.1:p.Gly201Arg, XP_047295486.1:p.Gly198Arg, XP_047295487.1:p.Gly198Arg, XP_047295478.1:p.Gly205Arg, XP_047295489.1:p.Gly205Arg, XP_047295488.1:p.Gly198Arg, XP_047295484.1:p.Gly198Arg, XP_047295496.1:p.Gly198Arg, XP_047295479.1:p.Gly202Arg, XP_047295495.1:p.Gly198Arg, XP_011525703.1:p.Gly205Arg, XP_047295491.1:p.Gly202Arg, XP_047295493.1:p.Gly201Arg, XP_047295498.1:p.Gly162Arg, XP_047295494.1:p.Gly198Arg, XP_047295499.1:p.Gly162Arg, XP_047295500.1:p.Gly162Arg, XP_047295497.1:p.Gly162Arg

                                  17.

                                  rs1451945223 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:49341367 (GRCh38)
                                    19:49844624 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:49341366:T:C
                                    Gene:
                                    TEAD2 (Varview), SLC6A16 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000019.10:g.49341367T>C, NC_000019.9:g.49844624T>C, NG_033941.1:g.10948T>C, XM_005259334.5:c.1193A>G, XM_005259334.4:c.1193A>G, XM_005259334.3:c.1193A>G, XM_005259334.2:c.1193A>G, XM_005259334.1:c.1193A>G, XM_006723428.4:c.1262A>G, XM_006723428.3:c.1262A>G, XM_006723428.2:c.1262A>G, XM_006723428.1:c.1262A>G, XM_011527400.3:c.1322A>G, XM_011527400.2:c.1322A>G, XM_011527400.1:c.1322A>G, XM_011527399.3:c.1322A>G, XM_011527399.2:c.1322A>G, XM_011527399.1:c.1322A>G, XM_011527404.3:c.1283A>G, XM_011527404.2:c.1283A>G, XM_011527404.1:c.1283A>G, NM_001256661.2:c.1313A>G, NM_001256661.1:c.1313A>G, NM_001256658.2:c.1310A>G, NM_001256658.1:c.1310A>G, NM_001256660.2:c.1313A>G, NM_001256660.1:c.1313A>G, XM_011527403.2:c.1310A>G, XM_011527403.1:c.1310A>G, NM_001256659.2:c.1310A>G, NM_001256659.1:c.1310A>G, XM_011527402.2:c.1322A>G, XM_011527402.1:c.1322A>G, NM_003598.2:c.1301A>G, NM_003598.1:c.1301A>G, NM_001256662.2:c.917A>G, NM_001256662.1:c.917A>G, XM_006723429.2:c.743A>G, XM_006723429.1:c.743A>G, XM_047439520.1:c.1322A>G, XM_047439534.1:c.1274A>G, XM_047439536.1:c.1271A>G, XM_047439524.1:c.1313A>G, XM_047439525.1:c.1310A>G, XM_047439529.1:c.1301A>G, XM_047439521.1:c.1322A>G, XM_047439527.1:c.1310A>G, XM_047439526.1:c.1310A>G, XM_047439530.1:c.1301A>G, XM_047439531.1:c.1301A>G, XM_047439522.1:c.1322A>G, XM_047439533.1:c.1283A>G, XM_047439532.1:c.1301A>G, XM_047439528.1:c.1301A>G, XM_047439540.1:c.1262A>G, XM_047439523.1:c.1313A>G, XM_047439539.1:c.1262A>G, XM_011527401.1:c.1322A>G, XM_047439535.1:c.1274A>G, XM_047439537.1:c.1271A>G, XM_047439542.1:c.1193A>G, XM_047439538.1:c.1262A>G, XM_047439543.1:c.1193A>G, XM_047439544.1:c.1154A>G, XM_047439541.1:c.1193A>G, XP_005259391.1:p.Glu398Gly, XP_006723491.1:p.Glu421Gly, XP_011525702.1:p.Glu441Gly, XP_011525701.1:p.Glu441Gly, XP_011525706.1:p.Glu428Gly, NP_001243590.1:p.Glu438Gly, NP_001243587.1:p.Glu437Gly, NP_001243589.1:p.Glu438Gly, XP_011525705.1:p.Glu437Gly, NP_001243588.1:p.Glu437Gly, XP_011525704.1:p.Glu441Gly, NP_003589.1:p.Glu434Gly, NP_001243591.1:p.Glu306Gly, XP_006723492.1:p.Glu248Gly, XP_047295476.1:p.Glu441Gly, XP_047295490.1:p.Glu425Gly, XP_047295492.1:p.Glu424Gly, XP_047295480.1:p.Glu438Gly, XP_047295481.1:p.Glu437Gly, XP_047295485.1:p.Glu434Gly, XP_047295477.1:p.Glu441Gly, XP_047295483.1:p.Glu437Gly, XP_047295482.1:p.Glu437Gly, XP_047295486.1:p.Glu434Gly, XP_047295487.1:p.Glu434Gly, XP_047295478.1:p.Glu441Gly, XP_047295489.1:p.Glu428Gly, XP_047295488.1:p.Glu434Gly, XP_047295484.1:p.Glu434Gly, XP_047295496.1:p.Glu421Gly, XP_047295479.1:p.Glu438Gly, XP_047295495.1:p.Glu421Gly, XP_011525703.1:p.Glu441Gly, XP_047295491.1:p.Glu425Gly, XP_047295493.1:p.Glu424Gly, XP_047295498.1:p.Glu398Gly, XP_047295494.1:p.Glu421Gly, XP_047295499.1:p.Glu398Gly, XP_047295500.1:p.Glu385Gly, XP_047295497.1:p.Glu398Gly

                                    18.

                                    rs1447769246 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      19:49359902 (GRCh38)
                                      19:49863159 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:49359901:G:A,NC_000019.10:49359901:G:T
                                      Gene:
                                      TEAD2 (Varview), DKKL1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.49359902G>A, NC_000019.10:g.49359902G>T, NC_000019.9:g.49863159G>A, NC_000019.9:g.49863159G>T, XM_005259334.5:c.174C>T, XM_005259334.5:c.174C>A, XM_005259334.4:c.174C>T, XM_005259334.4:c.174C>A, XM_005259334.3:c.174C>T, XM_005259334.3:c.174C>A, XM_005259334.2:c.174C>T, XM_005259334.2:c.174C>A, XM_005259334.1:c.174C>T, XM_005259334.1:c.174C>A, XM_006723428.4:c.174C>T, XM_006723428.4:c.174C>A, XM_006723428.3:c.174C>T, XM_006723428.3:c.174C>A, XM_006723428.2:c.174C>T, XM_006723428.2:c.174C>A, XM_006723428.1:c.174C>T, XM_006723428.1:c.174C>A, XM_011527405.4:c.174C>T, XM_011527405.4:c.174C>A, XM_011527405.3:c.174C>T, XM_011527405.3:c.174C>A, XM_011527405.2:c.174C>T, XM_011527405.2:c.174C>A, XM_011527405.1:c.174C>T, XM_011527405.1:c.174C>A, XM_011527406.4:c.174C>T, XM_011527406.4:c.174C>A, XM_011527406.3:c.174C>T, XM_011527406.3:c.174C>A, XM_011527406.2:c.174C>T, XM_011527406.2:c.174C>A, XM_011527406.1:c.174C>T, XM_011527406.1:c.174C>A, XM_011527400.3:c.174C>T, XM_011527400.3:c.174C>A, XM_011527400.2:c.174C>T, XM_011527400.2:c.174C>A, XM_011527400.1:c.174C>T, XM_011527400.1:c.174C>A, XM_011527399.3:c.174C>T, XM_011527399.3:c.174C>A, XM_011527399.2:c.174C>T, XM_011527399.2:c.174C>A, XM_011527399.1:c.174C>T, XM_011527399.1:c.174C>A, XM_011527404.3:c.174C>T, XM_011527404.3:c.174C>A, XM_011527404.2:c.174C>T, XM_011527404.2:c.174C>A, XM_011527404.1:c.174C>T, XM_011527404.1:c.174C>A, NM_001256661.2:c.174C>T, NM_001256661.2:c.174C>A, NM_001256661.1:c.174C>T, NM_001256661.1:c.174C>A, NM_001256658.2:c.174C>T, NM_001256658.2:c.174C>A, NM_001256658.1:c.174C>T, NM_001256658.1:c.174C>A, NM_001256660.2:c.174C>T, NM_001256660.2:c.174C>A, NM_001256660.1:c.174C>T, NM_001256660.1:c.174C>A, XM_011527403.2:c.174C>T, XM_011527403.2:c.174C>A, XM_011527403.1:c.174C>T, XM_011527403.1:c.174C>A, NM_001256659.2:c.174C>T, NM_001256659.2:c.174C>A, NM_001256659.1:c.174C>T, NM_001256659.1:c.174C>A, XM_011527402.2:c.174C>T, XM_011527402.2:c.174C>A, XM_011527402.1:c.174C>T, XM_011527402.1:c.174C>A, NM_003598.2:c.174C>T, NM_003598.2:c.174C>A, NM_003598.1:c.174C>T, NM_003598.1:c.174C>A, XM_047439520.1:c.174C>T, XM_047439520.1:c.174C>A, XM_047439534.1:c.174C>T, XM_047439534.1:c.174C>A, XM_047439536.1:c.174C>T, XM_047439536.1:c.174C>A, XM_047439524.1:c.174C>T, XM_047439524.1:c.174C>A, XM_047439525.1:c.174C>T, XM_047439525.1:c.174C>A, XM_047439529.1:c.174C>T, XM_047439529.1:c.174C>A, XM_047439521.1:c.174C>T, XM_047439521.1:c.174C>A, XM_047439527.1:c.174C>T, XM_047439527.1:c.174C>A, XM_047439526.1:c.174C>T, XM_047439526.1:c.174C>A, XM_047439530.1:c.174C>T, XM_047439530.1:c.174C>A, XM_047439531.1:c.174C>T, XM_047439531.1:c.174C>A, XM_047439522.1:c.174C>T, XM_047439522.1:c.174C>A, XM_047439533.1:c.174C>T, XM_047439533.1:c.174C>A, XM_047439532.1:c.174C>T, XM_047439532.1:c.174C>A, XM_047439528.1:c.174C>T, XM_047439528.1:c.174C>A, XM_047439540.1:c.174C>T, XM_047439540.1:c.174C>A, XM_047439523.1:c.174C>T, XM_047439523.1:c.174C>A, XM_047439539.1:c.174C>T, XM_047439539.1:c.174C>A, XM_011527401.1:c.174C>T, XM_011527401.1:c.174C>A, XM_047439535.1:c.174C>T, XM_047439535.1:c.174C>A, XM_047439537.1:c.174C>T, XM_047439537.1:c.174C>A, XM_047439542.1:c.174C>T, XM_047439542.1:c.174C>A, XM_047439538.1:c.174C>T, XM_047439538.1:c.174C>A, XM_047439543.1:c.174C>T, XM_047439543.1:c.174C>A, XM_047439544.1:c.174C>T, XM_047439544.1:c.174C>A, XM_047439541.1:c.174C>T, XM_047439541.1:c.174C>A

                                      19.

                                      rs1447735062 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:49355351 (GRCh38)
                                        19:49858608 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:49355350:C:T
                                        Gene:
                                        TEAD2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:
                                        NC_000019.10:g.49355351C>T, NC_000019.9:g.49858608C>T, XM_006723428.4:c.429G>A, XM_006723428.3:c.429G>A, XM_006723428.2:c.429G>A, XM_006723428.1:c.429G>A, XM_011527405.4:c.441G>A, XM_011527405.3:c.441G>A, XM_011527405.2:c.441G>A, XM_011527405.1:c.441G>A, XM_011527406.4:c.441G>A, XM_011527406.3:c.441G>A, XM_011527406.2:c.441G>A, XM_011527406.1:c.441G>A, XM_011527400.3:c.441G>A, XM_011527400.2:c.441G>A, XM_011527400.1:c.441G>A, XM_011527399.3:c.441G>A, XM_011527399.2:c.441G>A, XM_011527399.1:c.441G>A, XM_011527404.3:c.441G>A, XM_011527404.2:c.441G>A, XM_011527404.1:c.441G>A, NM_001256661.2:c.441G>A, NM_001256661.1:c.441G>A, NM_001256658.2:c.429G>A, NM_001256658.1:c.429G>A, NM_001256660.2:c.441G>A, NM_001256660.1:c.441G>A, XM_011527403.2:c.429G>A, XM_011527403.1:c.429G>A, NM_001256659.2:c.429G>A, NM_001256659.1:c.429G>A, XM_011527402.2:c.441G>A, XM_011527402.1:c.441G>A, NM_003598.2:c.429G>A, NM_003598.1:c.429G>A, NM_001256662.2:c.36G>A, NM_001256662.1:c.36G>A, XM_047439520.1:c.441G>A, XM_047439534.1:c.441G>A, XM_047439536.1:c.429G>A, XM_047439524.1:c.441G>A, XM_047439525.1:c.429G>A, XM_047439529.1:c.429G>A, XM_047439521.1:c.441G>A, XM_047439527.1:c.429G>A, XM_047439526.1:c.429G>A, XM_047439530.1:c.429G>A, XM_047439531.1:c.429G>A, XM_047439522.1:c.441G>A, XM_047439533.1:c.441G>A, XM_047439532.1:c.429G>A, XM_047439528.1:c.429G>A, XM_047439540.1:c.429G>A, XM_047439523.1:c.441G>A, XM_047439539.1:c.429G>A, XM_011527401.1:c.441G>A, XM_047439535.1:c.441G>A, XM_047439537.1:c.429G>A, XM_047439538.1:c.429G>A

                                        20.

                                        rs1444216925 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          19:49355155 (GRCh38)
                                          19:49858412 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:49355154:C:A
                                          Gene:
                                          TEAD2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          HGVS:
                                          NC_000019.10:g.49355155C>A, NC_000019.9:g.49858412C>A, XM_005259334.5:c.412G>T, XM_005259334.4:c.412G>T, XM_005259334.3:c.412G>T, XM_005259334.2:c.412G>T, XM_005259334.1:c.412G>T, XM_006723428.4:c.520G>T, XM_006723428.3:c.520G>T, XM_006723428.2:c.520G>T, XM_006723428.1:c.520G>T, XM_011527405.4:c.541G>T, XM_011527405.3:c.541G>T, XM_011527405.2:c.541G>T, XM_011527405.1:c.541G>T, XM_011527406.4:c.532G>T, XM_011527406.3:c.532G>T, XM_011527406.2:c.532G>T, XM_011527406.1:c.532G>T, XM_011527400.3:c.541G>T, XM_011527400.2:c.541G>T, XM_011527400.1:c.541G>T, XM_011527399.3:c.541G>T, XM_011527399.2:c.541G>T, XM_011527399.1:c.541G>T, XM_011527404.3:c.541G>T, XM_011527404.2:c.541G>T, XM_011527404.1:c.541G>T, NM_001256661.2:c.532G>T, NM_001256661.1:c.532G>T, NM_001256658.2:c.529G>T, NM_001256658.1:c.529G>T, NM_001256660.2:c.532G>T, NM_001256660.1:c.532G>T, XM_011527403.2:c.529G>T, XM_011527403.1:c.529G>T, NM_001256659.2:c.529G>T, NM_001256659.1:c.529G>T, XM_011527402.2:c.541G>T, XM_011527402.1:c.541G>T, NM_003598.2:c.520G>T, NM_003598.1:c.520G>T, NM_001256662.2:c.136G>T, NM_001256662.1:c.136G>T, XM_047439520.1:c.541G>T, XM_047439534.1:c.532G>T, XM_047439536.1:c.529G>T, XM_047439524.1:c.532G>T, XM_047439525.1:c.529G>T, XM_047439529.1:c.520G>T, XM_047439521.1:c.541G>T, XM_047439527.1:c.529G>T, XM_047439526.1:c.529G>T, XM_047439530.1:c.520G>T, XM_047439531.1:c.520G>T, XM_047439522.1:c.541G>T, XM_047439533.1:c.541G>T, XM_047439532.1:c.520G>T, XM_047439528.1:c.520G>T, XM_047439540.1:c.520G>T, XM_047439523.1:c.532G>T, XM_047439539.1:c.520G>T, XM_011527401.1:c.541G>T, XM_047439535.1:c.532G>T, XM_047439537.1:c.529G>T, XM_047439542.1:c.412G>T, XM_047439538.1:c.520G>T, XM_047439543.1:c.412G>T, XM_047439544.1:c.412G>T, XM_047439541.1:c.412G>T, XP_005259391.1:p.Val138Phe, XP_006723491.1:p.Val174Phe, XP_011525707.1:p.Val181Phe, XP_011525708.1:p.Val178Phe, XP_011525702.1:p.Val181Phe, XP_011525701.1:p.Val181Phe, XP_011525706.1:p.Val181Phe, NP_001243590.1:p.Val178Phe, NP_001243587.1:p.Val177Phe, NP_001243589.1:p.Val178Phe, XP_011525705.1:p.Val177Phe, NP_001243588.1:p.Val177Phe, XP_011525704.1:p.Val181Phe, NP_003589.1:p.Val174Phe, NP_001243591.1:p.Val46Phe, XP_047295476.1:p.Val181Phe, XP_047295490.1:p.Val178Phe, XP_047295492.1:p.Val177Phe, XP_047295480.1:p.Val178Phe, XP_047295481.1:p.Val177Phe, XP_047295485.1:p.Val174Phe, XP_047295477.1:p.Val181Phe, XP_047295483.1:p.Val177Phe, XP_047295482.1:p.Val177Phe, XP_047295486.1:p.Val174Phe, XP_047295487.1:p.Val174Phe, XP_047295478.1:p.Val181Phe, XP_047295489.1:p.Val181Phe, XP_047295488.1:p.Val174Phe, XP_047295484.1:p.Val174Phe, XP_047295496.1:p.Val174Phe, XP_047295479.1:p.Val178Phe, XP_047295495.1:p.Val174Phe, XP_011525703.1:p.Val181Phe, XP_047295491.1:p.Val178Phe, XP_047295493.1:p.Val177Phe, XP_047295498.1:p.Val138Phe, XP_047295494.1:p.Val174Phe, XP_047295499.1:p.Val138Phe, XP_047295500.1:p.Val138Phe, XP_047295497.1:p.Val138Phe

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