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Items: 1 to 20 of 588

1.

rs1489496337 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    18:55350950 (GRCh38)
    18:53018181 (GRCh37)
    Canonical SPDI:
    NC_000018.10:55350949:G:A
    Gene:
    TCF4 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000018.10:g.55350950G>A, NC_000018.9:g.53018181G>A, NG_011716.2:g.290044C>T, NM_001243226.3:c.729C>T, NM_001243226.2:c.729C>T, NM_001243226.1:c.729C>T, NM_001330604.3:c.423C>T, NM_001330604.2:c.423C>T, NM_001330604.1:c.423C>T, NM_003199.3:c.423C>T, NM_003199.2:c.423C>T, NM_001330605.3:c.33C>T, NM_001330605.2:c.33C>T, NM_001330605.1:c.33C>T, NM_001243228.2:c.423C>T, NM_001243228.1:c.423C>T, NM_001243227.2:c.351C>T, NM_001243227.1:c.351C>T, NM_001083962.2:c.423C>T, NM_001083962.1:c.423C>T, NM_001348218.2:c.351C>T, NM_001348218.1:c.351C>T, NM_001348219.2:c.351C>T, NM_001348219.1:c.351C>T, NM_001243230.2:c.417C>T, NM_001243230.1:c.417C>T, NM_001348211.2:c.297C>T, NM_001348211.1:c.297C>T, NM_001243231.2:c.297C>T, NM_001243231.1:c.297C>T, NM_001348213.2:c.33C>T, NM_001348213.1:c.33C>T, NM_001243233.2:c.33C>T, NM_001243233.1:c.33C>T, NM_001348212.2:c.33C>T, NM_001348212.1:c.33C>T, NM_001369567.1:c.423C>T, NM_001369571.1:c.423C>T, NM_001369586.1:c.351C>T, NM_001369577.1:c.351C>T, NM_001369576.1:c.348C>T, NM_001369582.1:c.351C>T, NM_001369584.1:c.348C>T, NM_001369570.1:c.420C>T, NM_001369568.1:c.423C>T, NM_001369569.1:c.420C>T, NM_001369574.1:c.423C>T, NM_001369573.1:c.420C>T, NM_001369572.1:c.423C>T, NM_001348217.1:c.351C>T, NM_001369575.1:c.351C>T, NM_001369579.1:c.351C>T, NM_001369578.1:c.348C>T, NM_001306207.1:c.351C>T, NM_001348220.1:c.348C>T, NM_001369581.1:c.348C>T, NM_001369580.1:c.351C>T, NM_001369583.1:c.351C>T, NM_001369585.1:c.348C>T, NM_001243232.1:c.210C>T, NM_001306208.1:c.210C>T

    2.

    rs1488846085 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      18:55232541 (GRCh38)
      18:52899772 (GRCh37)
      Canonical SPDI:
      NC_000018.10:55232540:C:T
      Gene:
      TCF4 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Clinical significance:
      likely-benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000018.10:g.55232541C>T, NC_000018.9:g.52899772C>T, NG_011716.2:g.408453G>A, NM_001243226.3:c.1923G>A, NM_001243226.2:c.1923G>A, NM_001243226.1:c.1923G>A, NM_001330604.3:c.1614G>A, NM_001330604.2:c.1614G>A, NM_001330604.1:c.1614G>A, NM_003199.3:c.1617G>A, NM_003199.2:c.1617G>A, NM_001330605.3:c.1227G>A, NM_001330605.2:c.1227G>A, NM_001330605.1:c.1227G>A, NM_001243228.2:c.1635G>A, NM_001243228.1:c.1635G>A, NM_001243227.2:c.1545G>A, NM_001243227.1:c.1545G>A, NM_001083962.2:c.1617G>A, NM_001083962.1:c.1617G>A, NM_001348218.2:c.1545G>A, NM_001348218.1:c.1545G>A, NM_001348219.2:c.1545G>A, NM_001348219.1:c.1545G>A, NM_001243230.2:c.1608G>A, NM_001243230.1:c.1608G>A, NM_001348211.2:c.1491G>A, NM_001348211.1:c.1491G>A, NM_001243231.2:c.1491G>A, NM_001243231.1:c.1491G>A, NM_001348213.2:c.1227G>A, NM_001348213.1:c.1227G>A, NM_001243233.2:c.1227G>A, NM_001243233.1:c.1227G>A, NM_001348212.2:c.1227G>A, NM_001348212.1:c.1227G>A, NM_001348216.2:c.1137G>A, NM_001348216.1:c.1137G>A, NM_001243236.2:c.1137G>A, NM_001243236.1:c.1137G>A, NM_001243234.2:c.1137G>A, NM_001243234.1:c.1137G>A, NM_001243235.2:c.1137G>A, NM_001243235.1:c.1137G>A, NM_001348214.2:c.1134G>A, NM_001348214.1:c.1134G>A, NM_001348215.2:c.969G>A, NM_001348215.1:c.969G>A, NM_001369567.1:c.1617G>A, NM_001369571.1:c.1617G>A, NM_001369586.1:c.1548G>A, NM_001369577.1:c.1542G>A, NM_001369576.1:c.1542G>A, NM_001369582.1:c.1545G>A, NM_001369584.1:c.1542G>A, NM_001369570.1:c.1614G>A, NM_001369568.1:c.1617G>A, NM_001369569.1:c.1614G>A, NM_001369574.1:c.1614G>A, NM_001369573.1:c.1614G>A, NM_001369572.1:c.1617G>A, NM_001348217.1:c.1545G>A, NM_001369575.1:c.1545G>A, NM_001369579.1:c.1542G>A, NM_001369578.1:c.1542G>A, NM_001306207.1:c.1545G>A, NM_001348220.1:c.1542G>A, NM_001369581.1:c.1542G>A, NM_001369580.1:c.1542G>A, NM_001369583.1:c.1545G>A, NM_001369585.1:c.1542G>A, NM_001243232.1:c.1404G>A, NM_001306208.1:c.1404G>A

      3.

      rs1488356033 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        18:55259960 (GRCh38)
        18:52927191 (GRCh37)
        Canonical SPDI:
        NC_000018.10:55259959:G:A
        Gene:
        TCF4 (Varview)
        Functional Consequence:
        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_000018.10:g.55259960G>A, NC_000018.9:g.52927191G>A, NG_011716.2:g.381034C>T, NM_001243226.3:c.1364C>T, NM_001243226.2:c.1364C>T, NM_001243226.1:c.1364C>T, NM_001330604.3:c.1058C>T, NM_001330604.2:c.1058C>T, NM_001330604.1:c.1058C>T, NM_003199.3:c.1058C>T, NM_003199.2:c.1058C>T, NM_001330605.3:c.668C>T, NM_001330605.2:c.668C>T, NM_001330605.1:c.668C>T, NM_001243228.2:c.1076C>T, NM_001243228.1:c.1076C>T, NM_001243227.2:c.986C>T, NM_001243227.1:c.986C>T, NM_001083962.2:c.1058C>T, NM_001083962.1:c.1058C>T, NM_001348218.2:c.986C>T, NM_001348218.1:c.986C>T, NM_001348219.2:c.986C>T, NM_001348219.1:c.986C>T, NM_001243230.2:c.1052C>T, NM_001243230.1:c.1052C>T, NM_001348211.2:c.932C>T, NM_001348211.1:c.932C>T, NM_001243231.2:c.932C>T, NM_001243231.1:c.932C>T, NM_001348213.2:c.668C>T, NM_001348213.1:c.668C>T, NM_001243233.2:c.668C>T, NM_001243233.1:c.668C>T, NM_001348212.2:c.668C>T, NM_001348212.1:c.668C>T, NM_001348216.2:c.578C>T, NM_001348216.1:c.578C>T, NM_001243236.2:c.578C>T, NM_001243236.1:c.578C>T, NM_001243234.2:c.578C>T, NM_001243234.1:c.578C>T, NM_001243235.2:c.578C>T, NM_001243235.1:c.578C>T, NM_001348214.2:c.578C>T, NM_001348214.1:c.578C>T, NM_001348215.2:c.410C>T, NM_001348215.1:c.410C>T, NM_001369567.1:c.1058C>T, NM_001369571.1:c.1058C>T, NM_001369586.1:c.986C>T, NM_001369577.1:c.986C>T, NM_001369576.1:c.983C>T, NM_001369582.1:c.986C>T, NM_001369584.1:c.983C>T, NM_001369570.1:c.1055C>T, NM_001369568.1:c.1058C>T, NM_001369569.1:c.1055C>T, NM_001369574.1:c.1058C>T, NM_001369573.1:c.1055C>T, NM_001369572.1:c.1058C>T, NM_001348217.1:c.986C>T, NM_001369575.1:c.986C>T, NM_001369579.1:c.986C>T, NM_001369578.1:c.983C>T, NM_001306207.1:c.986C>T, NM_001348220.1:c.983C>T, NM_001369581.1:c.983C>T, NM_001369580.1:c.986C>T, NM_001369583.1:c.986C>T, NM_001369585.1:c.983C>T, NM_001243232.1:c.845C>T, NM_001306208.1:c.845C>T, NP_001230155.2:p.Pro455Leu, NP_001317533.1:p.Pro353Leu, NP_003190.1:p.Pro353Leu, NP_001317534.1:p.Pro223Leu, NP_001230157.1:p.Pro359Leu, NP_001230156.1:p.Pro329Leu, NP_001077431.1:p.Pro353Leu, NP_001335147.1:p.Pro329Leu, NP_001335148.1:p.Pro329Leu, NP_001230159.1:p.Pro351Leu, NP_001335140.1:p.Pro311Leu, NP_001230160.1:p.Pro311Leu, NP_001335142.1:p.Pro223Leu, NP_001230162.1:p.Pro223Leu, NP_001335141.1:p.Pro223Leu, NP_001335145.1:p.Pro193Leu, NP_001230165.1:p.Pro193Leu, NP_001230163.1:p.Pro193Leu, NP_001230164.1:p.Pro193Leu, NP_001335143.1:p.Pro193Leu, NP_001335144.1:p.Pro137Leu, NP_001356496.1:p.Pro353Leu, NP_001356500.1:p.Pro353Leu, NP_001356515.1:p.Pro329Leu, NP_001356506.1:p.Pro329Leu, NP_001356505.1:p.Pro328Leu, NP_001356511.1:p.Pro329Leu, NP_001356513.1:p.Pro328Leu, NP_001356499.1:p.Pro352Leu, NP_001356497.1:p.Pro353Leu, NP_001356498.1:p.Pro352Leu, NP_001356503.1:p.Pro353Leu, NP_001356502.1:p.Pro352Leu, NP_001356501.1:p.Pro353Leu, NP_001335146.1:p.Pro329Leu, NP_001356504.1:p.Pro329Leu, NP_001356508.1:p.Pro329Leu, NP_001356507.1:p.Pro328Leu, NP_001293136.1:p.Pro329Leu, NP_001335149.1:p.Pro328Leu, NP_001356510.1:p.Pro328Leu, NP_001356509.1:p.Pro329Leu, NP_001356512.1:p.Pro329Leu, NP_001356514.1:p.Pro328Leu, NP_001230161.1:p.Pro282Leu, NP_001293137.1:p.Pro282Leu

        4.

        rs1485905826 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          18:55254677 (GRCh38)
          18:52921908 (GRCh37)
          Canonical SPDI:
          NC_000018.10:55254676:T:C
          Gene:
          TCF4 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000018.10:g.55254677T>C, NC_000018.9:g.52921908T>C, NG_011716.2:g.386317A>G, NM_001243226.3:c.1476A>G, NM_001243226.2:c.1476A>G, NM_001243226.1:c.1476A>G, NM_001330604.3:c.1167A>G, NM_001330604.2:c.1167A>G, NM_001330604.1:c.1167A>G, NM_003199.3:c.1170A>G, NM_003199.2:c.1170A>G, NM_001330605.3:c.780A>G, NM_001330605.2:c.780A>G, NM_001330605.1:c.780A>G, NM_001243228.2:c.1188A>G, NM_001243228.1:c.1188A>G, NM_001243227.2:c.1098A>G, NM_001243227.1:c.1098A>G, NM_001083962.2:c.1170A>G, NM_001083962.1:c.1170A>G, NM_001348218.2:c.1098A>G, NM_001348218.1:c.1098A>G, NM_001348219.2:c.1098A>G, NM_001348219.1:c.1098A>G, NM_001243230.2:c.1161A>G, NM_001243230.1:c.1161A>G, NM_001348211.2:c.1044A>G, NM_001348211.1:c.1044A>G, NM_001243231.2:c.1044A>G, NM_001243231.1:c.1044A>G, NM_001348213.2:c.780A>G, NM_001348213.1:c.780A>G, NM_001243233.2:c.780A>G, NM_001243233.1:c.780A>G, NM_001348212.2:c.780A>G, NM_001348212.1:c.780A>G, NM_001348216.2:c.690A>G, NM_001348216.1:c.690A>G, NM_001243236.2:c.690A>G, NM_001243236.1:c.690A>G, NM_001243234.2:c.690A>G, NM_001243234.1:c.690A>G, NM_001243235.2:c.690A>G, NM_001243235.1:c.690A>G, NM_001348214.2:c.687A>G, NM_001348214.1:c.687A>G, NM_001348215.2:c.522A>G, NM_001348215.1:c.522A>G, NM_001369567.1:c.1170A>G, NM_001369571.1:c.1170A>G, NM_001369586.1:c.1101A>G, NM_001369577.1:c.1095A>G, NM_001369576.1:c.1095A>G, NM_001369582.1:c.1098A>G, NM_001369584.1:c.1095A>G, NM_001369570.1:c.1167A>G, NM_001369568.1:c.1170A>G, NM_001369569.1:c.1167A>G, NM_001369574.1:c.1167A>G, NM_001369573.1:c.1167A>G, NM_001369572.1:c.1170A>G, NM_001348217.1:c.1098A>G, NM_001369575.1:c.1098A>G, NM_001369579.1:c.1095A>G, NM_001369578.1:c.1095A>G, NM_001306207.1:c.1098A>G, NM_001348220.1:c.1095A>G, NM_001369581.1:c.1095A>G, NM_001369580.1:c.1095A>G, NM_001369583.1:c.1098A>G, NM_001369585.1:c.1095A>G, NM_001243232.1:c.957A>G, NM_001306208.1:c.957A>G

          5.

          rs1484443997 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            18:55350948 (GRCh38)
            18:53018179 (GRCh37)
            Canonical SPDI:
            NC_000018.10:55350947:G:A
            Gene:
            TCF4 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000018.10:g.55350948G>A, NC_000018.9:g.53018179G>A, NG_011716.2:g.290046C>T, NM_001243226.3:c.731C>T, NM_001243226.2:c.731C>T, NM_001243226.1:c.731C>T, NM_001330604.3:c.425C>T, NM_001330604.2:c.425C>T, NM_001330604.1:c.425C>T, NM_003199.3:c.425C>T, NM_003199.2:c.425C>T, NM_001330605.3:c.35C>T, NM_001330605.2:c.35C>T, NM_001330605.1:c.35C>T, NM_001243228.2:c.425C>T, NM_001243228.1:c.425C>T, NM_001243227.2:c.353C>T, NM_001243227.1:c.353C>T, NM_001083962.2:c.425C>T, NM_001083962.1:c.425C>T, NM_001348218.2:c.353C>T, NM_001348218.1:c.353C>T, NM_001348219.2:c.353C>T, NM_001348219.1:c.353C>T, NM_001243230.2:c.419C>T, NM_001243230.1:c.419C>T, NM_001348211.2:c.299C>T, NM_001348211.1:c.299C>T, NM_001243231.2:c.299C>T, NM_001243231.1:c.299C>T, NM_001348213.2:c.35C>T, NM_001348213.1:c.35C>T, NM_001243233.2:c.35C>T, NM_001243233.1:c.35C>T, NM_001348212.2:c.35C>T, NM_001348212.1:c.35C>T, NM_001369567.1:c.425C>T, NM_001369571.1:c.425C>T, NM_001369586.1:c.353C>T, NM_001369577.1:c.353C>T, NM_001369576.1:c.350C>T, NM_001369582.1:c.353C>T, NM_001369584.1:c.350C>T, NM_001369570.1:c.422C>T, NM_001369568.1:c.425C>T, NM_001369569.1:c.422C>T, NM_001369574.1:c.425C>T, NM_001369573.1:c.422C>T, NM_001369572.1:c.425C>T, NM_001348217.1:c.353C>T, NM_001369575.1:c.353C>T, NM_001369579.1:c.353C>T, NM_001369578.1:c.350C>T, NM_001306207.1:c.353C>T, NM_001348220.1:c.350C>T, NM_001369581.1:c.350C>T, NM_001369580.1:c.353C>T, NM_001369583.1:c.353C>T, NM_001369585.1:c.350C>T, NM_001243232.1:c.212C>T, NM_001306208.1:c.212C>T, NP_001230155.2:p.Thr244Ile, NP_001317533.1:p.Thr142Ile, NP_003190.1:p.Thr142Ile, NP_001317534.1:p.Thr12Ile, NP_001230157.1:p.Thr142Ile, NP_001230156.1:p.Thr118Ile, NP_001077431.1:p.Thr142Ile, NP_001335147.1:p.Thr118Ile, NP_001335148.1:p.Thr118Ile, NP_001230159.1:p.Thr140Ile, NP_001335140.1:p.Thr100Ile, NP_001230160.1:p.Thr100Ile, NP_001335142.1:p.Thr12Ile, NP_001230162.1:p.Thr12Ile, NP_001335141.1:p.Thr12Ile, NP_001356496.1:p.Thr142Ile, NP_001356500.1:p.Thr142Ile, NP_001356515.1:p.Thr118Ile, NP_001356506.1:p.Thr118Ile, NP_001356505.1:p.Thr117Ile, NP_001356511.1:p.Thr118Ile, NP_001356513.1:p.Thr117Ile, NP_001356499.1:p.Thr141Ile, NP_001356497.1:p.Thr142Ile, NP_001356498.1:p.Thr141Ile, NP_001356503.1:p.Thr142Ile, NP_001356502.1:p.Thr141Ile, NP_001356501.1:p.Thr142Ile, NP_001335146.1:p.Thr118Ile, NP_001356504.1:p.Thr118Ile, NP_001356508.1:p.Thr118Ile, NP_001356507.1:p.Thr117Ile, NP_001293136.1:p.Thr118Ile, NP_001335149.1:p.Thr117Ile, NP_001356510.1:p.Thr117Ile, NP_001356509.1:p.Thr118Ile, NP_001356512.1:p.Thr118Ile, NP_001356514.1:p.Thr117Ile, NP_001230161.1:p.Thr71Ile, NP_001293137.1:p.Thr71Ile

            6.

            rs1480547602 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              18:55275749 (GRCh38)
              18:52942980 (GRCh37)
              Canonical SPDI:
              NC_000018.10:55275748:C:T
              Gene:
              TCF4 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000018.10:g.55275749C>T, NC_000018.9:g.52942980C>T, NG_011716.2:g.365245G>A, NM_001243226.3:c.965G>A, NM_001243226.2:c.965G>A, NM_001243226.1:c.965G>A, NM_001330604.3:c.659G>A, NM_001330604.2:c.659G>A, NM_001330604.1:c.659G>A, NM_003199.3:c.659G>A, NM_003199.2:c.659G>A, NM_001330605.3:c.269G>A, NM_001330605.2:c.269G>A, NM_001330605.1:c.269G>A, NM_001243228.2:c.677G>A, NM_001243228.1:c.677G>A, NM_001243227.2:c.587G>A, NM_001243227.1:c.587G>A, NM_001083962.2:c.659G>A, NM_001083962.1:c.659G>A, NM_001348218.2:c.587G>A, NM_001348218.1:c.587G>A, NM_001348219.2:c.587G>A, NM_001348219.1:c.587G>A, NM_001243230.2:c.653G>A, NM_001243230.1:c.653G>A, NM_001348211.2:c.533G>A, NM_001348211.1:c.533G>A, NM_001243231.2:c.533G>A, NM_001243231.1:c.533G>A, NM_001348213.2:c.269G>A, NM_001348213.1:c.269G>A, NM_001243233.2:c.269G>A, NM_001243233.1:c.269G>A, NM_001348212.2:c.269G>A, NM_001348212.1:c.269G>A, NM_001348216.2:c.179G>A, NM_001348216.1:c.179G>A, NM_001243236.2:c.179G>A, NM_001243236.1:c.179G>A, NM_001243234.2:c.179G>A, NM_001243234.1:c.179G>A, NM_001243235.2:c.179G>A, NM_001243235.1:c.179G>A, NM_001348214.2:c.179G>A, NM_001348214.1:c.179G>A, NM_001348215.2:c.11G>A, NM_001348215.1:c.11G>A, NM_001369567.1:c.659G>A, NM_001369571.1:c.659G>A, NM_001369586.1:c.587G>A, NM_001369577.1:c.587G>A, NM_001369576.1:c.584G>A, NM_001369582.1:c.587G>A, NM_001369584.1:c.584G>A, NM_001369570.1:c.656G>A, NM_001369568.1:c.659G>A, NM_001369569.1:c.656G>A, NM_001369574.1:c.659G>A, NM_001369573.1:c.656G>A, NM_001369572.1:c.659G>A, NM_001348217.1:c.587G>A, NM_001369575.1:c.587G>A, NM_001369579.1:c.587G>A, NM_001369578.1:c.584G>A, NM_001306207.1:c.587G>A, NM_001348220.1:c.584G>A, NM_001369581.1:c.584G>A, NM_001369580.1:c.587G>A, NM_001369583.1:c.587G>A, NM_001369585.1:c.584G>A, NM_001243232.1:c.446G>A, NM_001306208.1:c.446G>A, NP_001230155.2:p.Gly322Asp, NP_001317533.1:p.Gly220Asp, NP_003190.1:p.Gly220Asp, NP_001317534.1:p.Gly90Asp, NP_001230157.1:p.Gly226Asp, NP_001230156.1:p.Gly196Asp, NP_001077431.1:p.Gly220Asp, NP_001335147.1:p.Gly196Asp, NP_001335148.1:p.Gly196Asp, NP_001230159.1:p.Gly218Asp, NP_001335140.1:p.Gly178Asp, NP_001230160.1:p.Gly178Asp, NP_001335142.1:p.Gly90Asp, NP_001230162.1:p.Gly90Asp, NP_001335141.1:p.Gly90Asp, NP_001335145.1:p.Gly60Asp, NP_001230165.1:p.Gly60Asp, NP_001230163.1:p.Gly60Asp, NP_001230164.1:p.Gly60Asp, NP_001335143.1:p.Gly60Asp, NP_001335144.1:p.Gly4Asp, NP_001356496.1:p.Gly220Asp, NP_001356500.1:p.Gly220Asp, NP_001356515.1:p.Gly196Asp, NP_001356506.1:p.Gly196Asp, NP_001356505.1:p.Gly195Asp, NP_001356511.1:p.Gly196Asp, NP_001356513.1:p.Gly195Asp, NP_001356499.1:p.Gly219Asp, NP_001356497.1:p.Gly220Asp, NP_001356498.1:p.Gly219Asp, NP_001356503.1:p.Gly220Asp, NP_001356502.1:p.Gly219Asp, NP_001356501.1:p.Gly220Asp, NP_001335146.1:p.Gly196Asp, NP_001356504.1:p.Gly196Asp, NP_001356508.1:p.Gly196Asp, NP_001356507.1:p.Gly195Asp, NP_001293136.1:p.Gly196Asp, NP_001335149.1:p.Gly195Asp, NP_001356510.1:p.Gly195Asp, NP_001356509.1:p.Gly196Asp, NP_001356512.1:p.Gly196Asp, NP_001356514.1:p.Gly195Asp, NP_001230161.1:p.Gly149Asp, NP_001293137.1:p.Gly149Asp

              7.

              rs1479313461 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                18:55635803 (GRCh38)
                18:53303034 (GRCh37)
                Canonical SPDI:
                NC_000018.10:55635802:G:
                Gene:
                TCF4 (Varview)
                Functional Consequence:
                frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000014/2 (GnomAD)
                -=0.000038/10 (TOPMED)
                HGVS:

                8.

                rs1474917865 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  18:55350886 (GRCh38)
                  18:53018117 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:55350885:T:C
                  Gene:
                  TCF4 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000018.10:g.55350886T>C, NC_000018.9:g.53018117T>C, NG_011716.2:g.290108A>G, NM_001243226.3:c.793A>G, NM_001243226.2:c.793A>G, NM_001243226.1:c.793A>G, NM_001330604.3:c.487A>G, NM_001330604.2:c.487A>G, NM_001330604.1:c.487A>G, NM_003199.3:c.487A>G, NM_003199.2:c.487A>G, NM_001330605.3:c.97A>G, NM_001330605.2:c.97A>G, NM_001330605.1:c.97A>G, NM_001243228.2:c.487A>G, NM_001243228.1:c.487A>G, NM_001243227.2:c.415A>G, NM_001243227.1:c.415A>G, NM_001083962.2:c.487A>G, NM_001083962.1:c.487A>G, NM_001348218.2:c.415A>G, NM_001348218.1:c.415A>G, NM_001348219.2:c.415A>G, NM_001348219.1:c.415A>G, NM_001243230.2:c.481A>G, NM_001243230.1:c.481A>G, NM_001348211.2:c.361A>G, NM_001348211.1:c.361A>G, NM_001243231.2:c.361A>G, NM_001243231.1:c.361A>G, NM_001348213.2:c.97A>G, NM_001348213.1:c.97A>G, NM_001243233.2:c.97A>G, NM_001243233.1:c.97A>G, NM_001348212.2:c.97A>G, NM_001348212.1:c.97A>G, NM_001369567.1:c.487A>G, NM_001369571.1:c.487A>G, NM_001369586.1:c.415A>G, NM_001369577.1:c.415A>G, NM_001369576.1:c.412A>G, NM_001369582.1:c.415A>G, NM_001369584.1:c.412A>G, NM_001369570.1:c.484A>G, NM_001369568.1:c.487A>G, NM_001369569.1:c.484A>G, NM_001369574.1:c.487A>G, NM_001369573.1:c.484A>G, NM_001369572.1:c.487A>G, NM_001348217.1:c.415A>G, NM_001369575.1:c.415A>G, NM_001369579.1:c.415A>G, NM_001369578.1:c.412A>G, NM_001306207.1:c.415A>G, NM_001348220.1:c.412A>G, NM_001369581.1:c.412A>G, NM_001369580.1:c.415A>G, NM_001369583.1:c.415A>G, NM_001369585.1:c.412A>G, NM_001243232.1:c.274A>G, NM_001306208.1:c.274A>G, NP_001230155.2:p.Ser265Gly, NP_001317533.1:p.Ser163Gly, NP_003190.1:p.Ser163Gly, NP_001317534.1:p.Ser33Gly, NP_001230157.1:p.Ser163Gly, NP_001230156.1:p.Ser139Gly, NP_001077431.1:p.Ser163Gly, NP_001335147.1:p.Ser139Gly, NP_001335148.1:p.Ser139Gly, NP_001230159.1:p.Ser161Gly, NP_001335140.1:p.Ser121Gly, NP_001230160.1:p.Ser121Gly, NP_001335142.1:p.Ser33Gly, NP_001230162.1:p.Ser33Gly, NP_001335141.1:p.Ser33Gly, NP_001356496.1:p.Ser163Gly, NP_001356500.1:p.Ser163Gly, NP_001356515.1:p.Ser139Gly, NP_001356506.1:p.Ser139Gly, NP_001356505.1:p.Ser138Gly, NP_001356511.1:p.Ser139Gly, NP_001356513.1:p.Ser138Gly, NP_001356499.1:p.Ser162Gly, NP_001356497.1:p.Ser163Gly, NP_001356498.1:p.Ser162Gly, NP_001356503.1:p.Ser163Gly, NP_001356502.1:p.Ser162Gly, NP_001356501.1:p.Ser163Gly, NP_001335146.1:p.Ser139Gly, NP_001356504.1:p.Ser139Gly, NP_001356508.1:p.Ser139Gly, NP_001356507.1:p.Ser138Gly, NP_001293136.1:p.Ser139Gly, NP_001335149.1:p.Ser138Gly, NP_001356510.1:p.Ser138Gly, NP_001356509.1:p.Ser139Gly, NP_001356512.1:p.Ser139Gly, NP_001356514.1:p.Ser138Gly, NP_001230161.1:p.Ser92Gly, NP_001293137.1:p.Ser92Gly

                  9.

                  rs1470608351 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    18:55261517 (GRCh38)
                    18:52928748 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:55261516:C:T
                    Gene:
                    TCF4 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Clinical significance:
                    conflicting-interpretations-of-pathogenicity
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000018.10:g.55261517C>T, NC_000018.9:g.52928748C>T, NG_011716.2:g.379477G>A, NM_001243226.3:c.1245G>A, NM_001243226.2:c.1245G>A, NM_001243226.1:c.1245G>A, NM_001330604.3:c.939G>A, NM_001330604.2:c.939G>A, NM_001330604.1:c.939G>A, NM_003199.3:c.939G>A, NM_003199.2:c.939G>A, NM_001330605.3:c.549G>A, NM_001330605.2:c.549G>A, NM_001330605.1:c.549G>A, NM_001243228.2:c.957G>A, NM_001243228.1:c.957G>A, NM_001243227.2:c.867G>A, NM_001243227.1:c.867G>A, NM_001083962.2:c.939G>A, NM_001083962.1:c.939G>A, NM_001348218.2:c.867G>A, NM_001348218.1:c.867G>A, NM_001348219.2:c.867G>A, NM_001348219.1:c.867G>A, NM_001243230.2:c.933G>A, NM_001243230.1:c.933G>A, NM_001348211.2:c.813G>A, NM_001348211.1:c.813G>A, NM_001243231.2:c.813G>A, NM_001243231.1:c.813G>A, NM_001348213.2:c.549G>A, NM_001348213.1:c.549G>A, NM_001243233.2:c.549G>A, NM_001243233.1:c.549G>A, NM_001348212.2:c.549G>A, NM_001348212.1:c.549G>A, NM_001348216.2:c.459G>A, NM_001348216.1:c.459G>A, NM_001243236.2:c.459G>A, NM_001243236.1:c.459G>A, NM_001243234.2:c.459G>A, NM_001243234.1:c.459G>A, NM_001243235.2:c.459G>A, NM_001243235.1:c.459G>A, NM_001348214.2:c.459G>A, NM_001348214.1:c.459G>A, NM_001348215.2:c.291G>A, NM_001348215.1:c.291G>A, NM_001369567.1:c.939G>A, NM_001369571.1:c.939G>A, NM_001369586.1:c.867G>A, NM_001369577.1:c.867G>A, NM_001369576.1:c.864G>A, NM_001369582.1:c.867G>A, NM_001369584.1:c.864G>A, NM_001369570.1:c.936G>A, NM_001369568.1:c.939G>A, NM_001369569.1:c.936G>A, NM_001369574.1:c.939G>A, NM_001369573.1:c.936G>A, NM_001369572.1:c.939G>A, NM_001348217.1:c.867G>A, NM_001369575.1:c.867G>A, NM_001369579.1:c.867G>A, NM_001369578.1:c.864G>A, NM_001306207.1:c.867G>A, NM_001348220.1:c.864G>A, NM_001369581.1:c.864G>A, NM_001369580.1:c.867G>A, NM_001369583.1:c.867G>A, NM_001369585.1:c.864G>A, NM_001243232.1:c.726G>A, NM_001306208.1:c.726G>A

                    10.

                    rs1466792537 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      18:55228327 (GRCh38)
                      18:52895558 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:55228326:T:C
                      Gene:
                      TCF4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      NC_000018.10:g.55228327T>C, NC_000018.9:g.52895558T>C, NG_011716.2:g.412667A>G, NM_001243226.3:c.2220A>G, NM_001243226.2:c.2220A>G, NM_001243226.1:c.2220A>G, NM_001330604.3:c.1911A>G, NM_001330604.2:c.1911A>G, NM_001330604.1:c.1911A>G, NM_003199.3:c.1902A>G, NM_003199.2:c.1902A>G, NM_001330605.3:c.1524A>G, NM_001330605.2:c.1524A>G, NM_001330605.1:c.1524A>G, NM_001243228.2:c.1932A>G, NM_001243228.1:c.1932A>G, NM_001243227.2:c.1842A>G, NM_001243227.1:c.1842A>G, NM_001083962.2:c.1914A>G, NM_001083962.1:c.1914A>G, NM_001348218.2:c.1842A>G, NM_001348218.1:c.1842A>G, NM_001348219.2:c.1830A>G, NM_001348219.1:c.1830A>G, NM_001243230.2:c.1893A>G, NM_001243230.1:c.1893A>G, NM_001348211.2:c.1788A>G, NM_001348211.1:c.1788A>G, NM_001243231.2:c.1776A>G, NM_001243231.1:c.1776A>G, NM_001348213.2:c.1524A>G, NM_001348213.1:c.1524A>G, NM_001243233.2:c.1512A>G, NM_001243233.1:c.1512A>G, NM_001348212.2:c.1512A>G, NM_001348212.1:c.1512A>G, NM_001348216.2:c.1434A>G, NM_001348216.1:c.1434A>G, NM_001243236.2:c.1422A>G, NM_001243236.1:c.1422A>G, NM_001243234.2:c.1434A>G, NM_001243234.1:c.1434A>G, NM_001243235.2:c.1422A>G, NM_001243235.1:c.1422A>G, NM_001348214.2:c.1419A>G, NM_001348214.1:c.1419A>G, NM_001348215.2:c.1266A>G, NM_001348215.1:c.1266A>G, NM_001369567.1:c.1914A>G, NM_001369571.1:c.1902A>G, NM_001369586.1:c.1845A>G, NM_001369577.1:c.1839A>G, NM_001369576.1:c.1839A>G, NM_001369582.1:c.1830A>G, NM_001369584.1:c.1827A>G, NM_001369570.1:c.1911A>G, NM_001369568.1:c.1914A>G, NM_001369569.1:c.1911A>G, NM_001369574.1:c.1899A>G, NM_001369573.1:c.1899A>G, NM_001369572.1:c.1902A>G, NM_001348217.1:c.1842A>G, NM_001369575.1:c.1842A>G, NM_001369579.1:c.1839A>G, NM_001369578.1:c.1839A>G, NM_001306207.1:c.1830A>G, NM_001348220.1:c.1827A>G, NM_001369581.1:c.1839A>G, NM_001369580.1:c.1839A>G, NM_001369583.1:c.1830A>G, NM_001369585.1:c.1827A>G, NM_001243232.1:c.1701A>G, NM_001306208.1:c.1689A>G

                      11.

                      rs1466719628 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        18:55254499 (GRCh38)
                        18:52921730 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:55254498:T:C
                        Gene:
                        TCF4 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000018.10:g.55254499T>C, NC_000018.9:g.52921730T>C, NG_011716.2:g.386495A>G, NM_001243226.3:c.1654A>G, NM_001243226.2:c.1654A>G, NM_001243226.1:c.1654A>G, NM_001330604.3:c.1345A>G, NM_001330604.2:c.1345A>G, NM_001330604.1:c.1345A>G, NM_003199.3:c.1348A>G, NM_003199.2:c.1348A>G, NM_001330605.3:c.958A>G, NM_001330605.2:c.958A>G, NM_001330605.1:c.958A>G, NM_001243228.2:c.1366A>G, NM_001243228.1:c.1366A>G, NM_001243227.2:c.1276A>G, NM_001243227.1:c.1276A>G, NM_001083962.2:c.1348A>G, NM_001083962.1:c.1348A>G, NM_001348218.2:c.1276A>G, NM_001348218.1:c.1276A>G, NM_001348219.2:c.1276A>G, NM_001348219.1:c.1276A>G, NM_001243230.2:c.1339A>G, NM_001243230.1:c.1339A>G, NM_001348211.2:c.1222A>G, NM_001348211.1:c.1222A>G, NM_001243231.2:c.1222A>G, NM_001243231.1:c.1222A>G, NM_001348213.2:c.958A>G, NM_001348213.1:c.958A>G, NM_001243233.2:c.958A>G, NM_001243233.1:c.958A>G, NM_001348212.2:c.958A>G, NM_001348212.1:c.958A>G, NM_001348216.2:c.868A>G, NM_001348216.1:c.868A>G, NM_001243236.2:c.868A>G, NM_001243236.1:c.868A>G, NM_001243234.2:c.868A>G, NM_001243234.1:c.868A>G, NM_001243235.2:c.868A>G, NM_001243235.1:c.868A>G, NM_001348214.2:c.865A>G, NM_001348214.1:c.865A>G, NM_001348215.2:c.700A>G, NM_001348215.1:c.700A>G, NM_001369567.1:c.1348A>G, NM_001369571.1:c.1348A>G, NM_001369586.1:c.1279A>G, NM_001369577.1:c.1273A>G, NM_001369576.1:c.1273A>G, NM_001369582.1:c.1276A>G, NM_001369584.1:c.1273A>G, NM_001369570.1:c.1345A>G, NM_001369568.1:c.1348A>G, NM_001369569.1:c.1345A>G, NM_001369574.1:c.1345A>G, NM_001369573.1:c.1345A>G, NM_001369572.1:c.1348A>G, NM_001348217.1:c.1276A>G, NM_001369575.1:c.1276A>G, NM_001369579.1:c.1273A>G, NM_001369578.1:c.1273A>G, NM_001306207.1:c.1276A>G, NM_001348220.1:c.1273A>G, NM_001369581.1:c.1273A>G, NM_001369580.1:c.1273A>G, NM_001369583.1:c.1276A>G, NM_001369585.1:c.1273A>G, NM_001243232.1:c.1135A>G, NM_001306208.1:c.1135A>G, NP_001230155.2:p.Met552Val, NP_001317533.1:p.Met449Val, NP_003190.1:p.Met450Val, NP_001317534.1:p.Met320Val, NP_001230157.1:p.Met456Val, NP_001230156.1:p.Met426Val, NP_001077431.1:p.Met450Val, NP_001335147.1:p.Met426Val, NP_001335148.1:p.Met426Val, NP_001230159.1:p.Met447Val, NP_001335140.1:p.Met408Val, NP_001230160.1:p.Met408Val, NP_001335142.1:p.Met320Val, NP_001230162.1:p.Met320Val, NP_001335141.1:p.Met320Val, NP_001335145.1:p.Met290Val, NP_001230165.1:p.Met290Val, NP_001230163.1:p.Met290Val, NP_001230164.1:p.Met290Val, NP_001335143.1:p.Met289Val, NP_001335144.1:p.Met234Val, NP_001356496.1:p.Met450Val, NP_001356500.1:p.Met450Val, NP_001356515.1:p.Met427Val, NP_001356506.1:p.Met425Val, NP_001356505.1:p.Met425Val, NP_001356511.1:p.Met426Val, NP_001356513.1:p.Met425Val, NP_001356499.1:p.Met449Val, NP_001356497.1:p.Met450Val, NP_001356498.1:p.Met449Val, NP_001356503.1:p.Met449Val, NP_001356502.1:p.Met449Val, NP_001356501.1:p.Met450Val, NP_001335146.1:p.Met426Val, NP_001356504.1:p.Met426Val, NP_001356508.1:p.Met425Val, NP_001356507.1:p.Met425Val, NP_001293136.1:p.Met426Val, NP_001335149.1:p.Met425Val, NP_001356510.1:p.Met425Val, NP_001356509.1:p.Met425Val, NP_001356512.1:p.Met426Val, NP_001356514.1:p.Met425Val, NP_001230161.1:p.Met379Val, NP_001293137.1:p.Met379Val

                        12.

                        rs1464195430 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          18:55254607 (GRCh38)
                          18:52921838 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:55254606:C:A,NC_000018.10:55254606:C:T
                          Gene:
                          TCF4 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000224/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          A=0.000223/1 (Estonian)
                          HGVS:
                          NC_000018.10:g.55254607C>A, NC_000018.10:g.55254607C>T, NC_000018.9:g.52921838C>A, NC_000018.9:g.52921838C>T, NG_011716.2:g.386387G>T, NG_011716.2:g.386387G>A, NM_001243226.3:c.1546G>T, NM_001243226.3:c.1546G>A, NM_001243226.2:c.1546G>T, NM_001243226.2:c.1546G>A, NM_001243226.1:c.1546G>T, NM_001243226.1:c.1546G>A, NM_001330604.3:c.1237G>T, NM_001330604.3:c.1237G>A, NM_001330604.2:c.1237G>T, NM_001330604.2:c.1237G>A, NM_001330604.1:c.1237G>T, NM_001330604.1:c.1237G>A, NM_003199.3:c.1240G>T, NM_003199.3:c.1240G>A, NM_003199.2:c.1240G>T, NM_003199.2:c.1240G>A, NM_001330605.3:c.850G>T, NM_001330605.3:c.850G>A, NM_001330605.2:c.850G>T, NM_001330605.2:c.850G>A, NM_001330605.1:c.850G>T, NM_001330605.1:c.850G>A, NM_001243228.2:c.1258G>T, NM_001243228.2:c.1258G>A, NM_001243228.1:c.1258G>T, NM_001243228.1:c.1258G>A, NM_001243227.2:c.1168G>T, NM_001243227.2:c.1168G>A, NM_001243227.1:c.1168G>T, NM_001243227.1:c.1168G>A, NM_001083962.2:c.1240G>T, NM_001083962.2:c.1240G>A, NM_001083962.1:c.1240G>T, NM_001083962.1:c.1240G>A, NM_001348218.2:c.1168G>T, NM_001348218.2:c.1168G>A, NM_001348218.1:c.1168G>T, NM_001348218.1:c.1168G>A, NM_001348219.2:c.1168G>T, NM_001348219.2:c.1168G>A, NM_001348219.1:c.1168G>T, NM_001348219.1:c.1168G>A, NM_001243230.2:c.1231G>T, NM_001243230.2:c.1231G>A, NM_001243230.1:c.1231G>T, NM_001243230.1:c.1231G>A, NM_001348211.2:c.1114G>T, NM_001348211.2:c.1114G>A, NM_001348211.1:c.1114G>T, NM_001348211.1:c.1114G>A, NM_001243231.2:c.1114G>T, NM_001243231.2:c.1114G>A, NM_001243231.1:c.1114G>T, NM_001243231.1:c.1114G>A, NM_001348213.2:c.850G>T, NM_001348213.2:c.850G>A, NM_001348213.1:c.850G>T, NM_001348213.1:c.850G>A, NM_001243233.2:c.850G>T, NM_001243233.2:c.850G>A, NM_001243233.1:c.850G>T, NM_001243233.1:c.850G>A, NM_001348212.2:c.850G>T, NM_001348212.2:c.850G>A, NM_001348212.1:c.850G>T, NM_001348212.1:c.850G>A, NM_001348216.2:c.760G>T, NM_001348216.2:c.760G>A, NM_001348216.1:c.760G>T, NM_001348216.1:c.760G>A, NM_001243236.2:c.760G>T, NM_001243236.2:c.760G>A, NM_001243236.1:c.760G>T, NM_001243236.1:c.760G>A, NM_001243234.2:c.760G>T, NM_001243234.2:c.760G>A, NM_001243234.1:c.760G>T, NM_001243234.1:c.760G>A, NM_001243235.2:c.760G>T, NM_001243235.2:c.760G>A, NM_001243235.1:c.760G>T, NM_001243235.1:c.760G>A, NM_001348214.2:c.757G>T, NM_001348214.2:c.757G>A, NM_001348214.1:c.757G>T, NM_001348214.1:c.757G>A, NM_001348215.2:c.592G>T, NM_001348215.2:c.592G>A, NM_001348215.1:c.592G>T, NM_001348215.1:c.592G>A, NM_001369567.1:c.1240G>T, NM_001369567.1:c.1240G>A, NM_001369571.1:c.1240G>T, NM_001369571.1:c.1240G>A, NM_001369586.1:c.1171G>T, NM_001369586.1:c.1171G>A, NM_001369577.1:c.1165G>T, NM_001369577.1:c.1165G>A, NM_001369576.1:c.1165G>T, NM_001369576.1:c.1165G>A, NM_001369582.1:c.1168G>T, NM_001369582.1:c.1168G>A, NM_001369584.1:c.1165G>T, NM_001369584.1:c.1165G>A, NM_001369570.1:c.1237G>T, NM_001369570.1:c.1237G>A, NM_001369568.1:c.1240G>T, NM_001369568.1:c.1240G>A, NM_001369569.1:c.1237G>T, NM_001369569.1:c.1237G>A, NM_001369574.1:c.1237G>T, NM_001369574.1:c.1237G>A, NM_001369573.1:c.1237G>T, NM_001369573.1:c.1237G>A, NM_001369572.1:c.1240G>T, NM_001369572.1:c.1240G>A, NM_001348217.1:c.1168G>T, NM_001348217.1:c.1168G>A, NM_001369575.1:c.1168G>T, NM_001369575.1:c.1168G>A, NM_001369579.1:c.1165G>T, NM_001369579.1:c.1165G>A, NM_001369578.1:c.1165G>T, NM_001369578.1:c.1165G>A, NM_001306207.1:c.1168G>T, NM_001306207.1:c.1168G>A, NM_001348220.1:c.1165G>T, NM_001348220.1:c.1165G>A, NM_001369581.1:c.1165G>T, NM_001369581.1:c.1165G>A, NM_001369580.1:c.1165G>T, NM_001369580.1:c.1165G>A, NM_001369583.1:c.1168G>T, NM_001369583.1:c.1168G>A, NM_001369585.1:c.1165G>T, NM_001369585.1:c.1165G>A, NM_001243232.1:c.1027G>T, NM_001243232.1:c.1027G>A, NM_001306208.1:c.1027G>T, NM_001306208.1:c.1027G>A, NP_001230155.2:p.Gly516Cys, NP_001230155.2:p.Gly516Ser, NP_001317533.1:p.Gly413Cys, NP_001317533.1:p.Gly413Ser, NP_003190.1:p.Gly414Cys, NP_003190.1:p.Gly414Ser, NP_001317534.1:p.Gly284Cys, NP_001317534.1:p.Gly284Ser, NP_001230157.1:p.Gly420Cys, NP_001230157.1:p.Gly420Ser, NP_001230156.1:p.Gly390Cys, NP_001230156.1:p.Gly390Ser, NP_001077431.1:p.Gly414Cys, NP_001077431.1:p.Gly414Ser, NP_001335147.1:p.Gly390Cys, NP_001335147.1:p.Gly390Ser, NP_001335148.1:p.Gly390Cys, NP_001335148.1:p.Gly390Ser, NP_001230159.1:p.Gly411Cys, NP_001230159.1:p.Gly411Ser, NP_001335140.1:p.Gly372Cys, NP_001335140.1:p.Gly372Ser, NP_001230160.1:p.Gly372Cys, NP_001230160.1:p.Gly372Ser, NP_001335142.1:p.Gly284Cys, NP_001335142.1:p.Gly284Ser, NP_001230162.1:p.Gly284Cys, NP_001230162.1:p.Gly284Ser, NP_001335141.1:p.Gly284Cys, NP_001335141.1:p.Gly284Ser, NP_001335145.1:p.Gly254Cys, NP_001335145.1:p.Gly254Ser, NP_001230165.1:p.Gly254Cys, NP_001230165.1:p.Gly254Ser, NP_001230163.1:p.Gly254Cys, NP_001230163.1:p.Gly254Ser, NP_001230164.1:p.Gly254Cys, NP_001230164.1:p.Gly254Ser, NP_001335143.1:p.Gly253Cys, NP_001335143.1:p.Gly253Ser, NP_001335144.1:p.Gly198Cys, NP_001335144.1:p.Gly198Ser, NP_001356496.1:p.Gly414Cys, NP_001356496.1:p.Gly414Ser, NP_001356500.1:p.Gly414Cys, NP_001356500.1:p.Gly414Ser, NP_001356515.1:p.Gly391Cys, NP_001356515.1:p.Gly391Ser, NP_001356506.1:p.Gly389Cys, NP_001356506.1:p.Gly389Ser, NP_001356505.1:p.Gly389Cys, NP_001356505.1:p.Gly389Ser, NP_001356511.1:p.Gly390Cys, NP_001356511.1:p.Gly390Ser, NP_001356513.1:p.Gly389Cys, NP_001356513.1:p.Gly389Ser, NP_001356499.1:p.Gly413Cys, NP_001356499.1:p.Gly413Ser, NP_001356497.1:p.Gly414Cys, NP_001356497.1:p.Gly414Ser, NP_001356498.1:p.Gly413Cys, NP_001356498.1:p.Gly413Ser, NP_001356503.1:p.Gly413Cys, NP_001356503.1:p.Gly413Ser, NP_001356502.1:p.Gly413Cys, NP_001356502.1:p.Gly413Ser, NP_001356501.1:p.Gly414Cys, NP_001356501.1:p.Gly414Ser, NP_001335146.1:p.Gly390Cys, NP_001335146.1:p.Gly390Ser, NP_001356504.1:p.Gly390Cys, NP_001356504.1:p.Gly390Ser, NP_001356508.1:p.Gly389Cys, NP_001356508.1:p.Gly389Ser, NP_001356507.1:p.Gly389Cys, NP_001356507.1:p.Gly389Ser, NP_001293136.1:p.Gly390Cys, NP_001293136.1:p.Gly390Ser, NP_001335149.1:p.Gly389Cys, NP_001335149.1:p.Gly389Ser, NP_001356510.1:p.Gly389Cys, NP_001356510.1:p.Gly389Ser, NP_001356509.1:p.Gly389Cys, NP_001356509.1:p.Gly389Ser, NP_001356512.1:p.Gly390Cys, NP_001356512.1:p.Gly390Ser, NP_001356514.1:p.Gly389Cys, NP_001356514.1:p.Gly389Ser, NP_001230161.1:p.Gly343Cys, NP_001230161.1:p.Gly343Ser, NP_001293137.1:p.Gly343Cys, NP_001293137.1:p.Gly343Ser

                          13.

                          rs1459950082 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            18:55631326 (GRCh38)
                            18:53298557 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:55631325:G:C,NC_000018.10:55631325:G:T
                            Gene:
                            TCF4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1459627355 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              18:55228899 (GRCh38)
                              18:52896130 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:55228898:C:T
                              Gene:
                              TCF4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000018.10:g.55228899C>T, NC_000018.9:g.52896130C>T, NG_011716.2:g.412095G>A, NM_001243226.3:c.2133G>A, NM_001243226.2:c.2133G>A, NM_001243226.1:c.2133G>A, NM_001330604.3:c.1824G>A, NM_001330604.2:c.1824G>A, NM_001330604.1:c.1824G>A, NM_003199.3:c.1815G>A, NM_003199.2:c.1815G>A, NM_001330605.3:c.1437G>A, NM_001330605.2:c.1437G>A, NM_001330605.1:c.1437G>A, NM_001243228.2:c.1845G>A, NM_001243228.1:c.1845G>A, NM_001243227.2:c.1755G>A, NM_001243227.1:c.1755G>A, NM_001083962.2:c.1827G>A, NM_001083962.1:c.1827G>A, NM_001348218.2:c.1755G>A, NM_001348218.1:c.1755G>A, NM_001348219.2:c.1743G>A, NM_001348219.1:c.1743G>A, NM_001243230.2:c.1806G>A, NM_001243230.1:c.1806G>A, NM_001348211.2:c.1701G>A, NM_001348211.1:c.1701G>A, NM_001243231.2:c.1689G>A, NM_001243231.1:c.1689G>A, NM_001348213.2:c.1437G>A, NM_001348213.1:c.1437G>A, NM_001243233.2:c.1425G>A, NM_001243233.1:c.1425G>A, NM_001348212.2:c.1425G>A, NM_001348212.1:c.1425G>A, NM_001348216.2:c.1347G>A, NM_001348216.1:c.1347G>A, NM_001243236.2:c.1335G>A, NM_001243236.1:c.1335G>A, NM_001243234.2:c.1347G>A, NM_001243234.1:c.1347G>A, NM_001243235.2:c.1335G>A, NM_001243235.1:c.1335G>A, NM_001348214.2:c.1332G>A, NM_001348214.1:c.1332G>A, NM_001348215.2:c.1179G>A, NM_001348215.1:c.1179G>A, NM_001369567.1:c.1827G>A, NM_001369571.1:c.1815G>A, NM_001369586.1:c.1758G>A, NM_001369577.1:c.1752G>A, NM_001369576.1:c.1752G>A, NM_001369582.1:c.1743G>A, NM_001369584.1:c.1740G>A, NM_001369570.1:c.1824G>A, NM_001369568.1:c.1827G>A, NM_001369569.1:c.1824G>A, NM_001369574.1:c.1812G>A, NM_001369573.1:c.1812G>A, NM_001369572.1:c.1815G>A, NM_001348217.1:c.1755G>A, NM_001369575.1:c.1755G>A, NM_001369579.1:c.1752G>A, NM_001369578.1:c.1752G>A, NM_001306207.1:c.1743G>A, NM_001348220.1:c.1740G>A, NM_001369581.1:c.1752G>A, NM_001369580.1:c.1752G>A, NM_001369583.1:c.1743G>A, NM_001369585.1:c.1740G>A, NM_001243232.1:c.1614G>A, NM_001306208.1:c.1602G>A

                              15.

                              rs1457678224 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                18:55232562 (GRCh38)
                                18:52899793 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:55232561:C:T
                                Gene:
                                TCF4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000018.10:g.55232562C>T, NC_000018.9:g.52899793C>T, NG_011716.2:g.408432G>A, NM_001243226.3:c.1902G>A, NM_001243226.2:c.1902G>A, NM_001243226.1:c.1902G>A, NM_001330604.3:c.1593G>A, NM_001330604.2:c.1593G>A, NM_001330604.1:c.1593G>A, NM_003199.3:c.1596G>A, NM_003199.2:c.1596G>A, NM_001330605.3:c.1206G>A, NM_001330605.2:c.1206G>A, NM_001330605.1:c.1206G>A, NM_001243228.2:c.1614G>A, NM_001243228.1:c.1614G>A, NM_001243227.2:c.1524G>A, NM_001243227.1:c.1524G>A, NM_001083962.2:c.1596G>A, NM_001083962.1:c.1596G>A, NM_001348218.2:c.1524G>A, NM_001348218.1:c.1524G>A, NM_001348219.2:c.1524G>A, NM_001348219.1:c.1524G>A, NM_001243230.2:c.1587G>A, NM_001243230.1:c.1587G>A, NM_001348211.2:c.1470G>A, NM_001348211.1:c.1470G>A, NM_001243231.2:c.1470G>A, NM_001243231.1:c.1470G>A, NM_001348213.2:c.1206G>A, NM_001348213.1:c.1206G>A, NM_001243233.2:c.1206G>A, NM_001243233.1:c.1206G>A, NM_001348212.2:c.1206G>A, NM_001348212.1:c.1206G>A, NM_001348216.2:c.1116G>A, NM_001348216.1:c.1116G>A, NM_001243236.2:c.1116G>A, NM_001243236.1:c.1116G>A, NM_001243234.2:c.1116G>A, NM_001243234.1:c.1116G>A, NM_001243235.2:c.1116G>A, NM_001243235.1:c.1116G>A, NM_001348214.2:c.1113G>A, NM_001348214.1:c.1113G>A, NM_001348215.2:c.948G>A, NM_001348215.1:c.948G>A, NM_001369567.1:c.1596G>A, NM_001369571.1:c.1596G>A, NM_001369586.1:c.1527G>A, NM_001369577.1:c.1521G>A, NM_001369576.1:c.1521G>A, NM_001369582.1:c.1524G>A, NM_001369584.1:c.1521G>A, NM_001369570.1:c.1593G>A, NM_001369568.1:c.1596G>A, NM_001369569.1:c.1593G>A, NM_001369574.1:c.1593G>A, NM_001369573.1:c.1593G>A, NM_001369572.1:c.1596G>A, NM_001348217.1:c.1524G>A, NM_001369575.1:c.1524G>A, NM_001369579.1:c.1521G>A, NM_001369578.1:c.1521G>A, NM_001306207.1:c.1524G>A, NM_001348220.1:c.1521G>A, NM_001369581.1:c.1521G>A, NM_001369580.1:c.1521G>A, NM_001369583.1:c.1524G>A, NM_001369585.1:c.1521G>A, NM_001243232.1:c.1383G>A, NM_001306208.1:c.1383G>A

                                16.

                                rs1456263118 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  18:55275633 (GRCh38)
                                  18:52942864 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:55275632:G:A
                                  Gene:
                                  TCF4 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000018.10:g.55275633G>A, NC_000018.9:g.52942864G>A, NG_011716.2:g.365361C>T, NM_001243226.3:c.1081C>T, NM_001243226.2:c.1081C>T, NM_001243226.1:c.1081C>T, NM_001330604.3:c.775C>T, NM_001330604.2:c.775C>T, NM_001330604.1:c.775C>T, NM_003199.3:c.775C>T, NM_003199.2:c.775C>T, NM_001330605.3:c.385C>T, NM_001330605.2:c.385C>T, NM_001330605.1:c.385C>T, NM_001243228.2:c.793C>T, NM_001243228.1:c.793C>T, NM_001243227.2:c.703C>T, NM_001243227.1:c.703C>T, NM_001083962.2:c.775C>T, NM_001083962.1:c.775C>T, NM_001348218.2:c.703C>T, NM_001348218.1:c.703C>T, NM_001348219.2:c.703C>T, NM_001348219.1:c.703C>T, NM_001243230.2:c.769C>T, NM_001243230.1:c.769C>T, NM_001348211.2:c.649C>T, NM_001348211.1:c.649C>T, NM_001243231.2:c.649C>T, NM_001243231.1:c.649C>T, NM_001348213.2:c.385C>T, NM_001348213.1:c.385C>T, NM_001243233.2:c.385C>T, NM_001243233.1:c.385C>T, NM_001348212.2:c.385C>T, NM_001348212.1:c.385C>T, NM_001348216.2:c.295C>T, NM_001348216.1:c.295C>T, NM_001243236.2:c.295C>T, NM_001243236.1:c.295C>T, NM_001243234.2:c.295C>T, NM_001243234.1:c.295C>T, NM_001243235.2:c.295C>T, NM_001243235.1:c.295C>T, NM_001348214.2:c.295C>T, NM_001348214.1:c.295C>T, NM_001348215.2:c.127C>T, NM_001348215.1:c.127C>T, NM_001369567.1:c.775C>T, NM_001369571.1:c.775C>T, NM_001369586.1:c.703C>T, NM_001369577.1:c.703C>T, NM_001369576.1:c.700C>T, NM_001369582.1:c.703C>T, NM_001369584.1:c.700C>T, NM_001369570.1:c.772C>T, NM_001369568.1:c.775C>T, NM_001369569.1:c.772C>T, NM_001369574.1:c.775C>T, NM_001369573.1:c.772C>T, NM_001369572.1:c.775C>T, NM_001348217.1:c.703C>T, NM_001369575.1:c.703C>T, NM_001369579.1:c.703C>T, NM_001369578.1:c.700C>T, NM_001306207.1:c.703C>T, NM_001348220.1:c.700C>T, NM_001369581.1:c.700C>T, NM_001369580.1:c.703C>T, NM_001369583.1:c.703C>T, NM_001369585.1:c.700C>T, NM_001243232.1:c.562C>T, NM_001306208.1:c.562C>T, NP_001230155.2:p.Pro361Ser, NP_001317533.1:p.Pro259Ser, NP_003190.1:p.Pro259Ser, NP_001317534.1:p.Pro129Ser, NP_001230157.1:p.Pro265Ser, NP_001230156.1:p.Pro235Ser, NP_001077431.1:p.Pro259Ser, NP_001335147.1:p.Pro235Ser, NP_001335148.1:p.Pro235Ser, NP_001230159.1:p.Pro257Ser, NP_001335140.1:p.Pro217Ser, NP_001230160.1:p.Pro217Ser, NP_001335142.1:p.Pro129Ser, NP_001230162.1:p.Pro129Ser, NP_001335141.1:p.Pro129Ser, NP_001335145.1:p.Pro99Ser, NP_001230165.1:p.Pro99Ser, NP_001230163.1:p.Pro99Ser, NP_001230164.1:p.Pro99Ser, NP_001335143.1:p.Pro99Ser, NP_001335144.1:p.Pro43Ser, NP_001356496.1:p.Pro259Ser, NP_001356500.1:p.Pro259Ser, NP_001356515.1:p.Pro235Ser, NP_001356506.1:p.Pro235Ser, NP_001356505.1:p.Pro234Ser, NP_001356511.1:p.Pro235Ser, NP_001356513.1:p.Pro234Ser, NP_001356499.1:p.Pro258Ser, NP_001356497.1:p.Pro259Ser, NP_001356498.1:p.Pro258Ser, NP_001356503.1:p.Pro259Ser, NP_001356502.1:p.Pro258Ser, NP_001356501.1:p.Pro259Ser, NP_001335146.1:p.Pro235Ser, NP_001356504.1:p.Pro235Ser, NP_001356508.1:p.Pro235Ser, NP_001356507.1:p.Pro234Ser, NP_001293136.1:p.Pro235Ser, NP_001335149.1:p.Pro234Ser, NP_001356510.1:p.Pro234Ser, NP_001356509.1:p.Pro235Ser, NP_001356512.1:p.Pro235Ser, NP_001356514.1:p.Pro234Ser, NP_001230161.1:p.Pro188Ser, NP_001293137.1:p.Pro188Ser

                                  17.

                                  rs1455096367 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:55257320 (GRCh38)
                                    18:52924551 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:55257319:A:G
                                    Gene:
                                    TCF4 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000018.10:g.55257320A>G, NC_000018.9:g.52924551A>G, NG_011716.2:g.383674T>C, NM_001243226.3:c.1447T>C, NM_001243226.2:c.1447T>C, NM_001243226.1:c.1447T>C, NM_001330604.3:c.1138T>C, NM_001330604.2:c.1138T>C, NM_001330604.1:c.1138T>C, NM_003199.3:c.1141T>C, NM_003199.2:c.1141T>C, NM_001330605.3:c.751T>C, NM_001330605.2:c.751T>C, NM_001330605.1:c.751T>C, NM_001243228.2:c.1159T>C, NM_001243228.1:c.1159T>C, NM_001243227.2:c.1069T>C, NM_001243227.1:c.1069T>C, NM_001083962.2:c.1141T>C, NM_001083962.1:c.1141T>C, NM_001348218.2:c.1069T>C, NM_001348218.1:c.1069T>C, NM_001348219.2:c.1069T>C, NM_001348219.1:c.1069T>C, NM_001243230.2:c.1132T>C, NM_001243230.1:c.1132T>C, NM_001348211.2:c.1015T>C, NM_001348211.1:c.1015T>C, NM_001243231.2:c.1015T>C, NM_001243231.1:c.1015T>C, NM_001348213.2:c.751T>C, NM_001348213.1:c.751T>C, NM_001243233.2:c.751T>C, NM_001243233.1:c.751T>C, NM_001348212.2:c.751T>C, NM_001348212.1:c.751T>C, NM_001348216.2:c.661T>C, NM_001348216.1:c.661T>C, NM_001243236.2:c.661T>C, NM_001243236.1:c.661T>C, NM_001243234.2:c.661T>C, NM_001243234.1:c.661T>C, NM_001243235.2:c.661T>C, NM_001243235.1:c.661T>C, NM_001348214.2:c.658T>C, NM_001348214.1:c.658T>C, NM_001348215.2:c.493T>C, NM_001348215.1:c.493T>C, NM_001369567.1:c.1141T>C, NM_001369571.1:c.1141T>C, NM_001369586.1:c.1072T>C, NM_001369577.1:c.1066T>C, NM_001369576.1:c.1066T>C, NM_001369582.1:c.1069T>C, NM_001369584.1:c.1066T>C, NM_001369570.1:c.1138T>C, NM_001369568.1:c.1141T>C, NM_001369569.1:c.1138T>C, NM_001369574.1:c.1138T>C, NM_001369573.1:c.1138T>C, NM_001369572.1:c.1141T>C, NM_001348217.1:c.1069T>C, NM_001369575.1:c.1069T>C, NM_001369579.1:c.1066T>C, NM_001369578.1:c.1066T>C, NM_001306207.1:c.1069T>C, NM_001348220.1:c.1066T>C, NM_001369581.1:c.1066T>C, NM_001369580.1:c.1066T>C, NM_001369583.1:c.1069T>C, NM_001369585.1:c.1066T>C, NM_001243232.1:c.928T>C, NM_001306208.1:c.928T>C, NP_001230155.2:p.Ser483Pro, NP_001317533.1:p.Ser380Pro, NP_003190.1:p.Ser381Pro, NP_001317534.1:p.Ser251Pro, NP_001230157.1:p.Ser387Pro, NP_001230156.1:p.Ser357Pro, NP_001077431.1:p.Ser381Pro, NP_001335147.1:p.Ser357Pro, NP_001335148.1:p.Ser357Pro, NP_001230159.1:p.Ser378Pro, NP_001335140.1:p.Ser339Pro, NP_001230160.1:p.Ser339Pro, NP_001335142.1:p.Ser251Pro, NP_001230162.1:p.Ser251Pro, NP_001335141.1:p.Ser251Pro, NP_001335145.1:p.Ser221Pro, NP_001230165.1:p.Ser221Pro, NP_001230163.1:p.Ser221Pro, NP_001230164.1:p.Ser221Pro, NP_001335143.1:p.Ser220Pro, NP_001335144.1:p.Ser165Pro, NP_001356496.1:p.Ser381Pro, NP_001356500.1:p.Ser381Pro, NP_001356515.1:p.Ser358Pro, NP_001356506.1:p.Ser356Pro, NP_001356505.1:p.Ser356Pro, NP_001356511.1:p.Ser357Pro, NP_001356513.1:p.Ser356Pro, NP_001356499.1:p.Ser380Pro, NP_001356497.1:p.Ser381Pro, NP_001356498.1:p.Ser380Pro, NP_001356503.1:p.Ser380Pro, NP_001356502.1:p.Ser380Pro, NP_001356501.1:p.Ser381Pro, NP_001335146.1:p.Ser357Pro, NP_001356504.1:p.Ser357Pro, NP_001356508.1:p.Ser356Pro, NP_001356507.1:p.Ser356Pro, NP_001293136.1:p.Ser357Pro, NP_001335149.1:p.Ser356Pro, NP_001356510.1:p.Ser356Pro, NP_001356509.1:p.Ser356Pro, NP_001356512.1:p.Ser357Pro, NP_001356514.1:p.Ser356Pro, NP_001230161.1:p.Ser310Pro, NP_001293137.1:p.Ser310Pro

                                    18.

                                    rs1453824663 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      18:55635893 (GRCh38)
                                      18:53303124 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:55635892:A:G
                                      Gene:
                                      TCF4 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000005/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1453727346 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        18:55259994 (GRCh38)
                                        18:52927225 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:55259993:A:C
                                        Gene:
                                        TCF4 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000047/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.55259994A>C, NC_000018.9:g.52927225A>C, NG_011716.2:g.381000T>G, NM_001243226.3:c.1330T>G, NM_001243226.2:c.1330T>G, NM_001243226.1:c.1330T>G, NM_001330604.3:c.1024T>G, NM_001330604.2:c.1024T>G, NM_001330604.1:c.1024T>G, NM_003199.3:c.1024T>G, NM_003199.2:c.1024T>G, NM_001330605.3:c.634T>G, NM_001330605.2:c.634T>G, NM_001330605.1:c.634T>G, NM_001243228.2:c.1042T>G, NM_001243228.1:c.1042T>G, NM_001243227.2:c.952T>G, NM_001243227.1:c.952T>G, NM_001083962.2:c.1024T>G, NM_001083962.1:c.1024T>G, NM_001348218.2:c.952T>G, NM_001348218.1:c.952T>G, NM_001348219.2:c.952T>G, NM_001348219.1:c.952T>G, NM_001243230.2:c.1018T>G, NM_001243230.1:c.1018T>G, NM_001348211.2:c.898T>G, NM_001348211.1:c.898T>G, NM_001243231.2:c.898T>G, NM_001243231.1:c.898T>G, NM_001348213.2:c.634T>G, NM_001348213.1:c.634T>G, NM_001243233.2:c.634T>G, NM_001243233.1:c.634T>G, NM_001348212.2:c.634T>G, NM_001348212.1:c.634T>G, NM_001348216.2:c.544T>G, NM_001348216.1:c.544T>G, NM_001243236.2:c.544T>G, NM_001243236.1:c.544T>G, NM_001243234.2:c.544T>G, NM_001243234.1:c.544T>G, NM_001243235.2:c.544T>G, NM_001243235.1:c.544T>G, NM_001348214.2:c.544T>G, NM_001348214.1:c.544T>G, NM_001348215.2:c.376T>G, NM_001348215.1:c.376T>G, NM_001369567.1:c.1024T>G, NM_001369571.1:c.1024T>G, NM_001369586.1:c.952T>G, NM_001369577.1:c.952T>G, NM_001369576.1:c.949T>G, NM_001369582.1:c.952T>G, NM_001369584.1:c.949T>G, NM_001369570.1:c.1021T>G, NM_001369568.1:c.1024T>G, NM_001369569.1:c.1021T>G, NM_001369574.1:c.1024T>G, NM_001369573.1:c.1021T>G, NM_001369572.1:c.1024T>G, NM_001348217.1:c.952T>G, NM_001369575.1:c.952T>G, NM_001369579.1:c.952T>G, NM_001369578.1:c.949T>G, NM_001306207.1:c.952T>G, NM_001348220.1:c.949T>G, NM_001369581.1:c.949T>G, NM_001369580.1:c.952T>G, NM_001369583.1:c.952T>G, NM_001369585.1:c.949T>G, NM_001243232.1:c.811T>G, NM_001306208.1:c.811T>G, NP_001230155.2:p.Ser444Ala, NP_001317533.1:p.Ser342Ala, NP_003190.1:p.Ser342Ala, NP_001317534.1:p.Ser212Ala, NP_001230157.1:p.Ser348Ala, NP_001230156.1:p.Ser318Ala, NP_001077431.1:p.Ser342Ala, NP_001335147.1:p.Ser318Ala, NP_001335148.1:p.Ser318Ala, NP_001230159.1:p.Ser340Ala, NP_001335140.1:p.Ser300Ala, NP_001230160.1:p.Ser300Ala, NP_001335142.1:p.Ser212Ala, NP_001230162.1:p.Ser212Ala, NP_001335141.1:p.Ser212Ala, NP_001335145.1:p.Ser182Ala, NP_001230165.1:p.Ser182Ala, NP_001230163.1:p.Ser182Ala, NP_001230164.1:p.Ser182Ala, NP_001335143.1:p.Ser182Ala, NP_001335144.1:p.Ser126Ala, NP_001356496.1:p.Ser342Ala, NP_001356500.1:p.Ser342Ala, NP_001356515.1:p.Ser318Ala, NP_001356506.1:p.Ser318Ala, NP_001356505.1:p.Ser317Ala, NP_001356511.1:p.Ser318Ala, NP_001356513.1:p.Ser317Ala, NP_001356499.1:p.Ser341Ala, NP_001356497.1:p.Ser342Ala, NP_001356498.1:p.Ser341Ala, NP_001356503.1:p.Ser342Ala, NP_001356502.1:p.Ser341Ala, NP_001356501.1:p.Ser342Ala, NP_001335146.1:p.Ser318Ala, NP_001356504.1:p.Ser318Ala, NP_001356508.1:p.Ser318Ala, NP_001356507.1:p.Ser317Ala, NP_001293136.1:p.Ser318Ala, NP_001335149.1:p.Ser317Ala, NP_001356510.1:p.Ser317Ala, NP_001356509.1:p.Ser318Ala, NP_001356512.1:p.Ser318Ala, NP_001356514.1:p.Ser317Ala, NP_001230161.1:p.Ser271Ala, NP_001293137.1:p.Ser271Ala

                                        20.

                                        rs1451882566 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          18:55269904 (GRCh38)
                                          18:52937135 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:55269903:G:T
                                          Gene:
                                          TCF4 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.55269904G>T, NC_000018.9:g.52937135G>T, NG_011716.2:g.371090C>A, NM_001243226.3:c.1155C>A, NM_001243226.2:c.1155C>A, NM_001243226.1:c.1155C>A, NM_001330604.3:c.849C>A, NM_001330604.2:c.849C>A, NM_001330604.1:c.849C>A, NM_003199.3:c.849C>A, NM_003199.2:c.849C>A, NM_001330605.3:c.459C>A, NM_001330605.2:c.459C>A, NM_001330605.1:c.459C>A, NM_001243228.2:c.867C>A, NM_001243228.1:c.867C>A, NM_001243227.2:c.777C>A, NM_001243227.1:c.777C>A, NM_001083962.2:c.849C>A, NM_001083962.1:c.849C>A, NM_001348218.2:c.777C>A, NM_001348218.1:c.777C>A, NM_001348219.2:c.777C>A, NM_001348219.1:c.777C>A, NM_001243230.2:c.843C>A, NM_001243230.1:c.843C>A, NM_001348211.2:c.723C>A, NM_001348211.1:c.723C>A, NM_001243231.2:c.723C>A, NM_001243231.1:c.723C>A, NM_001348213.2:c.459C>A, NM_001348213.1:c.459C>A, NM_001243233.2:c.459C>A, NM_001243233.1:c.459C>A, NM_001348212.2:c.459C>A, NM_001348212.1:c.459C>A, NM_001348216.2:c.369C>A, NM_001348216.1:c.369C>A, NM_001243236.2:c.369C>A, NM_001243236.1:c.369C>A, NM_001243234.2:c.369C>A, NM_001243234.1:c.369C>A, NM_001243235.2:c.369C>A, NM_001243235.1:c.369C>A, NM_001348214.2:c.369C>A, NM_001348214.1:c.369C>A, NM_001348215.2:c.201C>A, NM_001348215.1:c.201C>A, NM_001369567.1:c.849C>A, NM_001369571.1:c.849C>A, NM_001369586.1:c.777C>A, NM_001369577.1:c.777C>A, NM_001369576.1:c.774C>A, NM_001369582.1:c.777C>A, NM_001369584.1:c.774C>A, NM_001369570.1:c.846C>A, NM_001369568.1:c.849C>A, NM_001369569.1:c.846C>A, NM_001369574.1:c.849C>A, NM_001369573.1:c.846C>A, NM_001369572.1:c.849C>A, NM_001348217.1:c.777C>A, NM_001369575.1:c.777C>A, NM_001369579.1:c.777C>A, NM_001369578.1:c.774C>A, NM_001306207.1:c.777C>A, NM_001348220.1:c.774C>A, NM_001369581.1:c.774C>A, NM_001369580.1:c.777C>A, NM_001369583.1:c.777C>A, NM_001369585.1:c.774C>A, NM_001243232.1:c.636C>A, NM_001306208.1:c.636C>A, NP_001230155.2:p.Phe385Leu, NP_001317533.1:p.Phe283Leu, NP_003190.1:p.Phe283Leu, NP_001317534.1:p.Phe153Leu, NP_001230157.1:p.Phe289Leu, NP_001230156.1:p.Phe259Leu, NP_001077431.1:p.Phe283Leu, NP_001335147.1:p.Phe259Leu, NP_001335148.1:p.Phe259Leu, NP_001230159.1:p.Phe281Leu, NP_001335140.1:p.Phe241Leu, NP_001230160.1:p.Phe241Leu, NP_001335142.1:p.Phe153Leu, NP_001230162.1:p.Phe153Leu, NP_001335141.1:p.Phe153Leu, NP_001335145.1:p.Phe123Leu, NP_001230165.1:p.Phe123Leu, NP_001230163.1:p.Phe123Leu, NP_001230164.1:p.Phe123Leu, NP_001335143.1:p.Phe123Leu, NP_001335144.1:p.Phe67Leu, NP_001356496.1:p.Phe283Leu, NP_001356500.1:p.Phe283Leu, NP_001356515.1:p.Phe259Leu, NP_001356506.1:p.Phe259Leu, NP_001356505.1:p.Phe258Leu, NP_001356511.1:p.Phe259Leu, NP_001356513.1:p.Phe258Leu, NP_001356499.1:p.Phe282Leu, NP_001356497.1:p.Phe283Leu, NP_001356498.1:p.Phe282Leu, NP_001356503.1:p.Phe283Leu, NP_001356502.1:p.Phe282Leu, NP_001356501.1:p.Phe283Leu, NP_001335146.1:p.Phe259Leu, NP_001356504.1:p.Phe259Leu, NP_001356508.1:p.Phe259Leu, NP_001356507.1:p.Phe258Leu, NP_001293136.1:p.Phe259Leu, NP_001335149.1:p.Phe258Leu, NP_001356510.1:p.Phe258Leu, NP_001356509.1:p.Phe259Leu, NP_001356512.1:p.Phe259Leu, NP_001356514.1:p.Phe258Leu, NP_001230161.1:p.Phe212Leu, NP_001293137.1:p.Phe212Leu

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