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Items: 1 to 20 of 526

1.

rs1490992565 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:79718905 (GRCh38)
    9:82333820 (GRCh37)
    Canonical SPDI:
    NC_000009.12:79718904:C:T
    Gene:
    TLE4 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.79718905C>T, NC_000009.11:g.82333820C>T, NM_007005.6:c.1524C>T, NM_007005.5:c.1524C>T, NM_007005.4:c.1524C>T, NM_007005.3:c.1524C>T, XM_011518972.4:c.750C>T, XM_011518972.3:c.750C>T, XM_011518972.2:c.750C>T, XM_011518972.1:c.750C>T, XM_011518970.4:c.1821C>T, XM_011518970.3:c.1821C>T, XM_011518970.2:c.1821C>T, XM_011518970.1:c.1821C>T, XM_011518953.3:c.1815C>T, XM_011518953.2:c.1815C>T, XM_011518953.1:c.1815C>T, XM_011518952.2:c.1821C>T, XM_011518952.1:c.1821C>T, XM_011518954.2:c.1776C>T, XM_011518954.1:c.1776C>T, XM_011518955.2:c.1758C>T, XM_011518955.1:c.1758C>T, XM_006717264.2:c.1746C>T, XM_006717264.1:c.1746C>T, XM_011518956.2:c.1737C>T, XM_011518956.1:c.1737C>T, XM_011518957.2:c.1734C>T, XM_011518957.1:c.1734C>T, XM_011518958.2:c.1725C>T, XM_011518958.1:c.1725C>T, XM_011518959.2:c.1698C>T, XM_011518959.1:c.1698C>T, XM_011518960.2:c.1695C>T, XM_011518960.1:c.1695C>T, NR_104239.2:n.2483C>T, NR_104239.1:n.2675C>T, XM_017015068.2:c.1653C>T, XM_017015068.1:c.1653C>T, XM_006717268.2:c.1650C>T, XM_006717268.1:c.1650C>T, XM_011518961.2:c.1635C>T, XM_011518961.1:c.1635C>T, XM_011518962.2:c.1632C>T, XM_011518962.1:c.1632C>T, XM_011518963.2:c.1623C>T, XM_011518963.1:c.1623C>T, XM_011518964.2:c.1620C>T, XM_011518964.1:c.1620C>T, NM_001282748.2:c.1620C>T, NM_001282748.1:c.1620C>T, NM_001282760.2:c.1161C>T, NM_001282760.1:c.1161C>T, XM_011518965.2:c.1602C>T, XM_011518965.1:c.1602C>T, XM_011518966.2:c.1599C>T, XM_011518966.1:c.1599C>T, XM_011518967.2:c.1572C>T, XM_011518967.1:c.1572C>T, NM_001351541.2:c.1563C>T, NM_001351541.1:c.1563C>T, XM_011518968.2:c.1560C>T, XM_011518968.1:c.1560C>T, NM_001351542.2:c.1527C>T, NM_001351542.1:c.1527C>T, XM_011518969.2:c.1518C>T, XM_011518969.1:c.1518C>T, XM_017015074.2:c.1497C>T, XM_017015074.1:c.1497C>T, NM_001351550.2:c.1464C>T, NM_001351550.1:c.1464C>T, NM_001351552.2:c.1461C>T, NM_001351552.1:c.1461C>T, NM_001351558.2:c.1452C>T, NM_001351558.1:c.1452C>T, NM_001282749.2:c.1449C>T, NM_001282749.1:c.1449C>T, XM_017015083.2:c.1371C>T, XM_017015083.1:c.1371C>T, NM_001282753.2:c.1317C>T, NM_001282753.1:c.1317C>T, NM_001351562.2:c.1296C>T, NM_001351562.1:c.1296C>T, NM_001351564.2:c.1242C>T, NM_001351564.1:c.1242C>T, XM_017015067.2:c.1692C>T, XM_017015067.1:c.1692C>T, NM_001351543.2:c.1521C>T, NM_001351543.1:c.1521C>T, NM_001351546.2:c.1518C>T, NM_001351546.1:c.1518C>T, NM_001351547.2:c.1473C>T, NM_001351547.1:c.1473C>T, NM_001351556.2:c.1455C>T, NM_001351556.1:c.1455C>T, NM_001351560.2:c.1446C>T, NM_001351560.1:c.1446C>T, NM_001351563.2:c.1290C>T, NM_001351563.1:c.1290C>T, XM_047423819.1:c.1566C>T, XM_047423820.1:c.1443C>T, XM_047423821.1:c.1389C>T, XM_047423823.1:c.1374C>T, XM_047423822.1:c.1383C>T

    2.

    rs1488814376 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      9:79718950 (GRCh38)
      9:82333865 (GRCh37)
      Canonical SPDI:
      NC_000009.12:79718949:T:A
      Gene:
      TLE4 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.79718950T>A, NC_000009.11:g.82333865T>A, NM_007005.6:c.1569T>A, NM_007005.5:c.1569T>A, NM_007005.4:c.1569T>A, NM_007005.3:c.1569T>A, XM_011518972.4:c.795T>A, XM_011518972.3:c.795T>A, XM_011518972.2:c.795T>A, XM_011518972.1:c.795T>A, XM_011518970.4:c.1866T>A, XM_011518970.3:c.1866T>A, XM_011518970.2:c.1866T>A, XM_011518970.1:c.1866T>A, XM_011518953.3:c.1860T>A, XM_011518953.2:c.1860T>A, XM_011518953.1:c.1860T>A, XM_011518952.2:c.1866T>A, XM_011518952.1:c.1866T>A, XM_011518954.2:c.1821T>A, XM_011518954.1:c.1821T>A, XM_011518955.2:c.1803T>A, XM_011518955.1:c.1803T>A, XM_006717264.2:c.1791T>A, XM_006717264.1:c.1791T>A, XM_011518956.2:c.1782T>A, XM_011518956.1:c.1782T>A, XM_011518957.2:c.1779T>A, XM_011518957.1:c.1779T>A, XM_011518958.2:c.1770T>A, XM_011518958.1:c.1770T>A, XM_011518959.2:c.1743T>A, XM_011518959.1:c.1743T>A, XM_011518960.2:c.1740T>A, XM_011518960.1:c.1740T>A, NR_104239.2:n.2528T>A, NR_104239.1:n.2720T>A, XM_017015068.2:c.1698T>A, XM_017015068.1:c.1698T>A, XM_006717268.2:c.1695T>A, XM_006717268.1:c.1695T>A, XM_011518961.2:c.1680T>A, XM_011518961.1:c.1680T>A, XM_011518962.2:c.1677T>A, XM_011518962.1:c.1677T>A, XM_011518963.2:c.1668T>A, XM_011518963.1:c.1668T>A, XM_011518964.2:c.1665T>A, XM_011518964.1:c.1665T>A, NM_001282748.2:c.1665T>A, NM_001282748.1:c.1665T>A, NM_001282760.2:c.1206T>A, NM_001282760.1:c.1206T>A, XM_011518965.2:c.1647T>A, XM_011518965.1:c.1647T>A, XM_011518966.2:c.1644T>A, XM_011518966.1:c.1644T>A, XM_011518967.2:c.1617T>A, XM_011518967.1:c.1617T>A, NM_001351541.2:c.1608T>A, NM_001351541.1:c.1608T>A, XM_011518968.2:c.1605T>A, XM_011518968.1:c.1605T>A, NM_001351542.2:c.1572T>A, NM_001351542.1:c.1572T>A, XM_011518969.2:c.1563T>A, XM_011518969.1:c.1563T>A, XM_017015074.2:c.1542T>A, XM_017015074.1:c.1542T>A, NM_001351550.2:c.1509T>A, NM_001351550.1:c.1509T>A, NM_001351552.2:c.1506T>A, NM_001351552.1:c.1506T>A, NM_001351558.2:c.1497T>A, NM_001351558.1:c.1497T>A, NM_001282749.2:c.1494T>A, NM_001282749.1:c.1494T>A, XM_017015083.2:c.1416T>A, XM_017015083.1:c.1416T>A, NM_001282753.2:c.1362T>A, NM_001282753.1:c.1362T>A, NM_001351562.2:c.1341T>A, NM_001351562.1:c.1341T>A, NM_001351564.2:c.1287T>A, NM_001351564.1:c.1287T>A, XM_017015067.2:c.1737T>A, XM_017015067.1:c.1737T>A, NM_001351543.2:c.1566T>A, NM_001351543.1:c.1566T>A, NM_001351546.2:c.1563T>A, NM_001351546.1:c.1563T>A, NM_001351547.2:c.1518T>A, NM_001351547.1:c.1518T>A, NM_001351556.2:c.1500T>A, NM_001351556.1:c.1500T>A, NM_001351560.2:c.1491T>A, NM_001351560.1:c.1491T>A, NM_001351563.2:c.1335T>A, NM_001351563.1:c.1335T>A, XM_047423819.1:c.1611T>A, XM_047423820.1:c.1488T>A, XM_047423821.1:c.1434T>A, XM_047423823.1:c.1419T>A, XM_047423822.1:c.1428T>A

      3.

      rs1488436524 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        9:79709670 (GRCh38)
        9:82324585 (GRCh37)
        Canonical SPDI:
        NC_000009.12:79709669:A:T
        Gene:
        TLE4 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000009.12:g.79709670A>T, NC_000009.11:g.82324585A>T, NM_007005.6:c.1311A>T, NM_007005.5:c.1311A>T, NM_007005.4:c.1311A>T, NM_007005.3:c.1311A>T, XM_011518972.4:c.462A>T, XM_011518972.3:c.462A>T, XM_011518972.2:c.462A>T, XM_011518972.1:c.462A>T, XM_011518970.4:c.1533A>T, XM_011518970.3:c.1533A>T, XM_011518970.2:c.1533A>T, XM_011518970.1:c.1533A>T, XM_011518953.3:c.1527A>T, XM_011518953.2:c.1527A>T, XM_011518953.1:c.1527A>T, XM_011518952.2:c.1533A>T, XM_011518952.1:c.1533A>T, XM_011518954.2:c.1488A>T, XM_011518954.1:c.1488A>T, XM_011518955.2:c.1470A>T, XM_011518955.1:c.1470A>T, XM_006717264.2:c.1533A>T, XM_006717264.1:c.1533A>T, XM_011518956.2:c.1449A>T, XM_011518956.1:c.1449A>T, XM_011518957.2:c.1446A>T, XM_011518957.1:c.1446A>T, XM_011518958.2:c.1437A>T, XM_011518958.1:c.1437A>T, XM_011518959.2:c.1410A>T, XM_011518959.1:c.1410A>T, XM_011518960.2:c.1407A>T, XM_011518960.1:c.1407A>T, NR_104239.2:n.2270A>T, NR_104239.1:n.2462A>T, XM_017015068.2:c.1365A>T, XM_017015068.1:c.1365A>T, XM_006717268.2:c.1437A>T, XM_006717268.1:c.1437A>T, XM_011518961.2:c.1347A>T, XM_011518961.1:c.1347A>T, XM_011518962.2:c.1344A>T, XM_011518962.1:c.1344A>T, XM_011518963.2:c.1335A>T, XM_011518963.1:c.1335A>T, XM_011518964.2:c.1332A>T, XM_011518964.1:c.1332A>T, NM_001282748.2:c.1407A>T, NM_001282748.1:c.1407A>T, NM_001282760.2:c.948A>T, NM_001282760.1:c.948A>T, XM_011518965.2:c.1314A>T, XM_011518965.1:c.1314A>T, XM_011518966.2:c.1311A>T, XM_011518966.1:c.1311A>T, XM_011518967.2:c.1284A>T, XM_011518967.1:c.1284A>T, NM_001351541.2:c.1350A>T, NM_001351541.1:c.1350A>T, XM_011518968.2:c.1272A>T, XM_011518968.1:c.1272A>T, NM_001351542.2:c.1314A>T, NM_001351542.1:c.1314A>T, XM_011518969.2:c.1230A>T, XM_011518969.1:c.1230A>T, XM_017015074.2:c.1284A>T, XM_017015074.1:c.1284A>T, NM_001351550.2:c.1251A>T, NM_001351550.1:c.1251A>T, NM_001351552.2:c.1248A>T, NM_001351552.1:c.1248A>T, NM_001351558.2:c.1239A>T, NM_001351558.1:c.1239A>T, NM_001282749.2:c.1236A>T, NM_001282749.1:c.1236A>T, XM_017015083.2:c.1158A>T, XM_017015083.1:c.1158A>T, NM_001282753.2:c.1104A>T, NM_001282753.1:c.1104A>T, NM_001351562.2:c.1083A>T, NM_001351562.1:c.1083A>T, NM_001351564.2:c.1029A>T, NM_001351564.1:c.1029A>T, XM_017015067.2:c.1404A>T, XM_017015067.1:c.1404A>T, NM_001351543.2:c.1308A>T, NM_001351543.1:c.1308A>T, NM_001351546.2:c.1305A>T, NM_001351546.1:c.1305A>T, NM_001351547.2:c.1260A>T, NM_001351547.1:c.1260A>T, NM_001351556.2:c.1242A>T, NM_001351556.1:c.1242A>T, NM_001351560.2:c.1233A>T, NM_001351560.1:c.1233A>T, NM_001351563.2:c.1077A>T, NM_001351563.1:c.1077A>T, XM_047423819.1:c.1353A>T, XM_047423820.1:c.1230A>T, XM_047423821.1:c.1176A>T, XM_047423823.1:c.1161A>T, XM_047423824.1:c.1533A>T, XM_047423822.1:c.1170A>T

        4.

        rs1484723200 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          9:79649858 (GRCh38)
          9:82264773 (GRCh37)
          Canonical SPDI:
          NC_000009.12:79649857:G:A,NC_000009.12:79649857:G:T
          Gene:
          TLE4 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.79649858G>A, NC_000009.12:g.79649858G>T, NC_000009.11:g.82264773G>A, NC_000009.11:g.82264773G>T, XM_011518970.4:c.429G>A, XM_011518970.4:c.429G>T, XM_011518970.3:c.429G>A, XM_011518970.3:c.429G>T, XM_011518970.2:c.429G>A, XM_011518970.2:c.429G>T, XM_011518970.1:c.429G>A, XM_011518970.1:c.429G>T, XM_011518953.3:c.423G>A, XM_011518953.3:c.423G>T, XM_011518953.2:c.423G>A, XM_011518953.2:c.423G>T, XM_011518953.1:c.423G>A, XM_011518953.1:c.423G>T, XM_011518952.2:c.429G>A, XM_011518952.2:c.429G>T, XM_011518952.1:c.429G>A, XM_011518952.1:c.429G>T, XM_011518954.2:c.384G>A, XM_011518954.2:c.384G>T, XM_011518954.1:c.384G>A, XM_011518954.1:c.384G>T, XM_011518955.2:c.366G>A, XM_011518955.2:c.366G>T, XM_011518955.1:c.366G>A, XM_011518955.1:c.366G>T, XM_006717264.2:c.429G>A, XM_006717264.2:c.429G>T, XM_006717264.1:c.429G>A, XM_006717264.1:c.429G>T, XM_011518956.2:c.429G>A, XM_011518956.2:c.429G>T, XM_011518956.1:c.429G>A, XM_011518956.1:c.429G>T, XM_011518957.2:c.429G>A, XM_011518957.2:c.429G>T, XM_011518957.1:c.429G>A, XM_011518957.1:c.429G>T, XM_011518958.2:c.429G>A, XM_011518958.2:c.429G>T, XM_011518958.1:c.429G>A, XM_011518958.1:c.429G>T, XM_006717268.2:c.429G>A, XM_006717268.2:c.429G>T, XM_006717268.1:c.429G>A, XM_006717268.1:c.429G>T, XM_011518967.2:c.429G>A, XM_011518967.2:c.429G>T, XM_011518967.1:c.429G>A, XM_011518967.1:c.429G>T, NM_001351541.2:c.429G>A, NM_001351541.2:c.429G>T, NM_001351541.1:c.429G>A, NM_001351541.1:c.429G>T, XM_011518969.2:c.429G>A, XM_011518969.2:c.429G>T, XM_011518969.1:c.429G>A, XM_011518969.1:c.429G>T, XM_017015074.2:c.429G>A, XM_017015074.2:c.429G>T, XM_017015074.1:c.429G>A, XM_017015074.1:c.429G>T, XM_047423819.1:c.429G>A, XM_047423819.1:c.429G>T, XM_047423820.1:c.429G>A, XM_047423820.1:c.429G>T, XM_047423824.1:c.429G>A, XM_047423824.1:c.429G>T, XP_011517272.1:p.Lys143Asn, XP_011517255.1:p.Lys141Asn, XP_011517254.1:p.Lys143Asn, XP_011517256.1:p.Lys128Asn, XP_011517257.1:p.Lys122Asn, XP_006717327.1:p.Lys143Asn, XP_011517258.1:p.Lys143Asn, XP_011517259.1:p.Lys143Asn, XP_011517260.1:p.Lys143Asn, XP_006717331.1:p.Lys143Asn, XP_011517269.1:p.Lys143Asn, NP_001338470.1:p.Lys143Asn, XP_011517271.1:p.Lys143Asn, XP_016870563.1:p.Lys143Asn, XP_047279775.1:p.Lys143Asn, XP_047279776.1:p.Lys143Asn, XP_047279780.1:p.Lys143Asn

          5.

          rs1484062616 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            9:79574879 (GRCh38)
            9:82189794 (GRCh37)
            Canonical SPDI:
            NC_000009.12:79574878:G:A
            Gene:
            TLE4 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (GnomAD_exomes)
            A=0.000035/1 (TOMMO)
            HGVS:
            NC_000009.12:g.79574879G>A, NC_000009.11:g.82189794G>A, NM_007005.6:c.150G>A, NM_007005.5:c.150G>A, NM_007005.4:c.150G>A, NM_007005.3:c.150G>A, XM_011518970.4:c.150G>A, XM_011518970.3:c.150G>A, XM_011518970.2:c.150G>A, XM_011518970.1:c.150G>A, XM_011518953.3:c.144G>A, XM_011518953.2:c.144G>A, XM_011518953.1:c.144G>A, XM_011518952.2:c.150G>A, XM_011518952.1:c.150G>A, XM_011518954.2:c.150G>A, XM_011518954.1:c.150G>A, XM_011518955.2:c.150G>A, XM_011518955.1:c.150G>A, XM_006717264.2:c.150G>A, XM_006717264.1:c.150G>A, XM_011518956.2:c.150G>A, XM_011518956.1:c.150G>A, XM_011518957.2:c.150G>A, XM_011518957.1:c.150G>A, XM_011518958.2:c.150G>A, XM_011518958.1:c.150G>A, XM_011518959.2:c.150G>A, XM_011518959.1:c.150G>A, XM_011518960.2:c.150G>A, XM_011518960.1:c.150G>A, NR_104239.2:n.976G>A, NR_104239.1:n.1168G>A, XM_017015068.2:c.150G>A, XM_017015068.1:c.150G>A, XM_006717268.2:c.150G>A, XM_006717268.1:c.150G>A, XM_011518961.2:c.150G>A, XM_011518961.1:c.150G>A, XM_011518962.2:c.150G>A, XM_011518962.1:c.150G>A, XM_011518963.2:c.150G>A, XM_011518963.1:c.150G>A, XM_011518964.2:c.150G>A, XM_011518964.1:c.150G>A, NM_001282748.2:c.150G>A, NM_001282748.1:c.150G>A, NM_001282760.2:c.-309G>A, NM_001282760.1:c.-309G>A, XM_011518965.2:c.150G>A, XM_011518965.1:c.150G>A, XM_011518966.2:c.150G>A, XM_011518966.1:c.150G>A, XM_011518967.2:c.150G>A, XM_011518967.1:c.150G>A, NM_001351541.2:c.150G>A, NM_001351541.1:c.150G>A, XM_011518968.2:c.150G>A, XM_011518968.1:c.150G>A, NM_001351542.2:c.150G>A, NM_001351542.1:c.150G>A, XM_011518969.2:c.150G>A, XM_011518969.1:c.150G>A, XM_017015074.2:c.150G>A, XM_017015074.1:c.150G>A, NM_001351550.2:c.150G>A, NM_001351550.1:c.150G>A, NM_001351552.2:c.150G>A, NM_001351552.1:c.150G>A, NM_001351558.2:c.150G>A, NM_001351558.1:c.150G>A, NM_001282749.2:c.150G>A, NM_001282749.1:c.150G>A, XM_017015083.2:c.150G>A, XM_017015083.1:c.150G>A, NM_001282753.2:c.150G>A, NM_001282753.1:c.150G>A, NM_001351562.2:c.150G>A, NM_001351562.1:c.150G>A, NM_001351564.2:c.150G>A, NM_001351564.1:c.150G>A, XM_017015067.2:c.144G>A, XM_017015067.1:c.144G>A, NM_001351543.2:c.144G>A, NM_001351543.1:c.144G>A, NM_001351546.2:c.144G>A, NM_001351546.1:c.144G>A, NM_001351547.2:c.144G>A, NM_001351547.1:c.144G>A, NM_001351556.2:c.144G>A, NM_001351556.1:c.144G>A, NM_001351560.2:c.144G>A, NM_001351560.1:c.144G>A, NM_001351563.2:c.144G>A, NM_001351563.1:c.144G>A, XM_047423819.1:c.150G>A, XM_047423820.1:c.150G>A, XM_047423821.1:c.150G>A, XM_047423823.1:c.150G>A, XM_047423824.1:c.150G>A, XM_047423822.1:c.144G>A

            6.

            rs1484020273 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:79612694 (GRCh38)
              9:82227609 (GRCh37)
              Canonical SPDI:
              NC_000009.12:79612693:A:G
              Gene:
              TLE4 (Varview), LOC124902329 (Varview)
              Functional Consequence:
              intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000009.12:g.79612694A>G, NC_000009.11:g.82227609A>G, NM_007005.6:c.291A>G, NM_007005.5:c.291A>G, NM_007005.4:c.291A>G, NM_007005.3:c.291A>G, XM_011518970.4:c.291A>G, XM_011518970.3:c.291A>G, XM_011518970.2:c.291A>G, XM_011518970.1:c.291A>G, XM_011518953.3:c.285A>G, XM_011518953.2:c.285A>G, XM_011518953.1:c.285A>G, XM_011518952.2:c.291A>G, XM_011518952.1:c.291A>G, XM_011518954.2:c.246A>G, XM_011518954.1:c.246A>G, XM_006717264.2:c.291A>G, XM_006717264.1:c.291A>G, XM_011518956.2:c.291A>G, XM_011518956.1:c.291A>G, XM_011518957.2:c.291A>G, XM_011518957.1:c.291A>G, XM_011518958.2:c.291A>G, XM_011518958.1:c.291A>G, XM_011518959.2:c.291A>G, XM_011518959.1:c.291A>G, XM_011518960.2:c.291A>G, XM_011518960.1:c.291A>G, NR_104239.2:n.1117A>G, NR_104239.1:n.1309A>G, XM_017015068.2:c.246A>G, XM_017015068.1:c.246A>G, XM_006717268.2:c.291A>G, XM_006717268.1:c.291A>G, XM_011518963.2:c.291A>G, XM_011518963.1:c.291A>G, XM_011518964.2:c.291A>G, XM_011518964.1:c.291A>G, NM_001282748.2:c.291A>G, NM_001282748.1:c.291A>G, NM_001282760.2:c.-73A>G, NM_001282760.1:c.-73A>G, XM_011518965.2:c.291A>G, XM_011518965.1:c.291A>G, XM_011518966.2:c.291A>G, XM_011518966.1:c.291A>G, XM_011518967.2:c.291A>G, XM_011518967.1:c.291A>G, NM_001351541.2:c.291A>G, NM_001351541.1:c.291A>G, NM_001351542.2:c.291A>G, NM_001351542.1:c.291A>G, XM_011518969.2:c.291A>G, XM_011518969.1:c.291A>G, XM_017015074.2:c.291A>G, XM_017015074.1:c.291A>G, NM_001351558.2:c.291A>G, NM_001351558.1:c.291A>G, NM_001282749.2:c.291A>G, NM_001282749.1:c.291A>G, XM_017015083.2:c.291A>G, XM_017015083.1:c.291A>G, NM_001282753.2:c.291A>G, NM_001282753.1:c.291A>G, NM_001351562.2:c.291A>G, NM_001351562.1:c.291A>G, NM_001351564.2:c.291A>G, NM_001351564.1:c.291A>G, XM_017015067.2:c.285A>G, XM_017015067.1:c.285A>G, NM_001351543.2:c.285A>G, NM_001351543.1:c.285A>G, NM_001351546.2:c.285A>G, NM_001351546.1:c.285A>G, NM_001351547.2:c.240A>G, NM_001351547.1:c.240A>G, NM_001351560.2:c.285A>G, NM_001351560.1:c.285A>G, NM_001351563.2:c.285A>G, NM_001351563.1:c.285A>G, XM_047423819.1:c.291A>G, XM_047423820.1:c.291A>G, XM_047423823.1:c.291A>G, XM_047423824.1:c.291A>G

              7.

              rs1479600067 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                9:79652782 (GRCh38)
                9:82267697 (GRCh37)
                Canonical SPDI:
                NC_000009.12:79652781:G:C
                Gene:
                TLE4 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000009.12:g.79652782G>C, NC_000009.11:g.82267697G>C, NM_007005.6:c.580G>C, NM_007005.5:c.580G>C, NM_007005.4:c.580G>C, NM_007005.3:c.580G>C, XM_011518970.4:c.706G>C, XM_011518970.3:c.706G>C, XM_011518970.2:c.706G>C, XM_011518970.1:c.706G>C, XM_011518953.3:c.700G>C, XM_011518953.2:c.700G>C, XM_011518953.1:c.700G>C, XM_011518952.2:c.706G>C, XM_011518952.1:c.706G>C, XM_011518954.2:c.661G>C, XM_011518954.1:c.661G>C, XM_011518955.2:c.643G>C, XM_011518955.1:c.643G>C, XM_006717264.2:c.706G>C, XM_006717264.1:c.706G>C, XM_011518956.2:c.622G>C, XM_011518956.1:c.622G>C, XM_011518957.2:c.619G>C, XM_011518957.1:c.619G>C, XM_011518958.2:c.706G>C, XM_011518958.1:c.706G>C, XM_011518959.2:c.583G>C, XM_011518959.1:c.583G>C, XM_011518960.2:c.580G>C, XM_011518960.1:c.580G>C, NR_104239.2:n.1409G>C, NR_104239.1:n.1601G>C, XM_017015068.2:c.538G>C, XM_017015068.1:c.538G>C, XM_006717268.2:c.706G>C, XM_006717268.1:c.706G>C, XM_011518961.2:c.520G>C, XM_011518961.1:c.520G>C, XM_011518962.2:c.517G>C, XM_011518962.1:c.517G>C, XM_011518963.2:c.508G>C, XM_011518963.1:c.508G>C, XM_011518964.2:c.505G>C, XM_011518964.1:c.505G>C, NM_001282748.2:c.580G>C, NM_001282748.1:c.580G>C, NM_001282760.2:c.217G>C, NM_001282760.1:c.217G>C, XM_011518965.2:c.583G>C, XM_011518965.1:c.583G>C, XM_011518966.2:c.580G>C, XM_011518966.1:c.580G>C, XM_011518967.2:c.706G>C, XM_011518967.1:c.706G>C, NM_001351541.2:c.619G>C, NM_001351541.1:c.619G>C, XM_011518968.2:c.445G>C, XM_011518968.1:c.445G>C, NM_001351542.2:c.583G>C, NM_001351542.1:c.583G>C, XM_011518969.2:c.706G>C, XM_011518969.1:c.706G>C, XM_017015074.2:c.706G>C, XM_017015074.1:c.706G>C, NM_001351550.2:c.520G>C, NM_001351550.1:c.520G>C, NM_001351552.2:c.517G>C, NM_001351552.1:c.517G>C, NM_001351558.2:c.508G>C, NM_001351558.1:c.508G>C, NM_001282749.2:c.505G>C, NM_001282749.1:c.505G>C, XM_017015083.2:c.580G>C, XM_017015083.1:c.580G>C, NM_001282753.2:c.580G>C, NM_001282753.1:c.580G>C, NM_001351562.2:c.505G>C, NM_001351562.1:c.505G>C, NM_001351564.2:c.505G>C, NM_001351564.1:c.505G>C, XM_017015067.2:c.577G>C, XM_017015067.1:c.577G>C, NM_001351543.2:c.577G>C, NM_001351543.1:c.577G>C, NM_001351546.2:c.574G>C, NM_001351546.1:c.574G>C, NM_001351547.2:c.529G>C, NM_001351547.1:c.529G>C, NM_001351556.2:c.511G>C, NM_001351556.1:c.511G>C, NM_001351560.2:c.502G>C, NM_001351560.1:c.502G>C, NM_001351563.2:c.499G>C, NM_001351563.1:c.499G>C, XM_047423819.1:c.622G>C, XM_047423820.1:c.706G>C, XM_047423821.1:c.445G>C, XM_047423823.1:c.583G>C, XM_047423824.1:c.706G>C, XM_047423822.1:c.439G>C, NP_008936.2:p.Asp194His, XP_011517272.1:p.Asp236His, XP_011517255.1:p.Asp234His, XP_011517254.1:p.Asp236His, XP_011517256.1:p.Asp221His, XP_011517257.1:p.Asp215His, XP_006717327.1:p.Asp236His, XP_011517258.1:p.Asp208His, XP_011517259.1:p.Asp207His, XP_011517260.1:p.Asp236His, XP_011517261.1:p.Asp195His, XP_011517262.1:p.Asp194His, XP_016870557.1:p.Asp180His, XP_006717331.1:p.Asp236His, XP_011517263.1:p.Asp174His, XP_011517264.1:p.Asp173His, XP_011517265.1:p.Asp170His, XP_011517266.1:p.Asp169His, NP_001269677.1:p.Asp194His, NP_001269689.1:p.Asp73His, XP_011517267.1:p.Asp195His, XP_011517268.1:p.Asp194His, XP_011517269.1:p.Asp236His, NP_001338470.1:p.Asp207His, XP_011517270.1:p.Asp149His, NP_001338471.1:p.Asp195His, XP_011517271.1:p.Asp236His, XP_016870563.1:p.Asp236His, NP_001338479.1:p.Asp174His, NP_001338481.1:p.Asp173His, NP_001338487.1:p.Asp170His, NP_001269678.1:p.Asp169His, XP_016870572.1:p.Asp194His, NP_001269682.1:p.Asp194His, NP_001338491.1:p.Asp169His, NP_001338493.1:p.Asp169His, XP_016870556.1:p.Asp193His, NP_001338472.1:p.Asp193His, NP_001338475.1:p.Asp192His, NP_001338476.1:p.Asp177His, NP_001338485.1:p.Asp171His, NP_001338489.1:p.Asp168His, NP_001338492.1:p.Asp167His, XP_047279775.1:p.Asp208His, XP_047279776.1:p.Asp236His, XP_047279777.1:p.Asp149His, XP_047279779.1:p.Asp195His, XP_047279780.1:p.Asp236His, XP_047279778.1:p.Asp147His

                8.

                rs1479138557 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  9:79708677 (GRCh38)
                  9:82323592 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:79708676:A:T
                  Gene:
                  TLE4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.79708677A>T, NC_000009.11:g.82323592A>T, NM_007005.6:c.1154A>T, NM_007005.5:c.1154A>T, NM_007005.4:c.1154A>T, NM_007005.3:c.1154A>T, XM_011518972.4:c.305A>T, XM_011518972.3:c.305A>T, XM_011518972.2:c.305A>T, XM_011518972.1:c.305A>T, XM_011518970.4:c.1376A>T, XM_011518970.3:c.1376A>T, XM_011518970.2:c.1376A>T, XM_011518970.1:c.1376A>T, XM_011518953.3:c.1370A>T, XM_011518953.2:c.1370A>T, XM_011518953.1:c.1370A>T, XM_011518952.2:c.1376A>T, XM_011518952.1:c.1376A>T, XM_011518954.2:c.1331A>T, XM_011518954.1:c.1331A>T, XM_011518955.2:c.1313A>T, XM_011518955.1:c.1313A>T, XM_006717264.2:c.1376A>T, XM_006717264.1:c.1376A>T, XM_011518956.2:c.1292A>T, XM_011518956.1:c.1292A>T, XM_011518957.2:c.1289A>T, XM_011518957.1:c.1289A>T, XM_011518958.2:c.1280A>T, XM_011518958.1:c.1280A>T, XM_011518959.2:c.1253A>T, XM_011518959.1:c.1253A>T, XM_011518960.2:c.1250A>T, XM_011518960.1:c.1250A>T, NR_104239.2:n.2113A>T, NR_104239.1:n.2305A>T, XM_017015068.2:c.1208A>T, XM_017015068.1:c.1208A>T, XM_006717268.2:c.1280A>T, XM_006717268.1:c.1280A>T, XM_011518961.2:c.1190A>T, XM_011518961.1:c.1190A>T, XM_011518962.2:c.1187A>T, XM_011518962.1:c.1187A>T, XM_011518963.2:c.1178A>T, XM_011518963.1:c.1178A>T, XM_011518964.2:c.1175A>T, XM_011518964.1:c.1175A>T, NM_001282748.2:c.1250A>T, NM_001282748.1:c.1250A>T, NM_001282760.2:c.791A>T, NM_001282760.1:c.791A>T, XM_011518965.2:c.1157A>T, XM_011518965.1:c.1157A>T, XM_011518966.2:c.1154A>T, XM_011518966.1:c.1154A>T, XM_011518967.2:c.1127A>T, XM_011518967.1:c.1127A>T, NM_001351541.2:c.1193A>T, NM_001351541.1:c.1193A>T, XM_011518968.2:c.1115A>T, XM_011518968.1:c.1115A>T, NM_001351542.2:c.1157A>T, NM_001351542.1:c.1157A>T, XM_011518969.2:c.1073A>T, XM_011518969.1:c.1073A>T, XM_017015074.2:c.1127A>T, XM_017015074.1:c.1127A>T, NM_001351550.2:c.1094A>T, NM_001351550.1:c.1094A>T, NM_001351552.2:c.1091A>T, NM_001351552.1:c.1091A>T, NM_001351558.2:c.1082A>T, NM_001351558.1:c.1082A>T, NM_001282749.2:c.1079A>T, NM_001282749.1:c.1079A>T, XM_017015083.2:c.1001A>T, XM_017015083.1:c.1001A>T, NM_001282753.2:c.947A>T, NM_001282753.1:c.947A>T, NM_001351562.2:c.926A>T, NM_001351562.1:c.926A>T, NM_001351564.2:c.872A>T, NM_001351564.1:c.872A>T, XM_017015067.2:c.1247A>T, XM_017015067.1:c.1247A>T, NM_001351543.2:c.1151A>T, NM_001351543.1:c.1151A>T, NM_001351546.2:c.1148A>T, NM_001351546.1:c.1148A>T, NM_001351547.2:c.1103A>T, NM_001351547.1:c.1103A>T, NM_001351556.2:c.1085A>T, NM_001351556.1:c.1085A>T, NM_001351560.2:c.1076A>T, NM_001351560.1:c.1076A>T, NM_001351563.2:c.920A>T, NM_001351563.1:c.920A>T, XM_047423819.1:c.1196A>T, XM_047423820.1:c.1073A>T, XM_047423821.1:c.1019A>T, XM_047423823.1:c.1004A>T, XM_047423824.1:c.1376A>T, XM_047423822.1:c.1013A>T, NP_008936.2:p.Glu385Val, XP_011517274.1:p.Glu102Val, XP_011517272.1:p.Glu459Val, XP_011517255.1:p.Glu457Val, XP_011517254.1:p.Glu459Val, XP_011517256.1:p.Glu444Val, XP_011517257.1:p.Glu438Val, XP_006717327.1:p.Glu459Val, XP_011517258.1:p.Glu431Val, XP_011517259.1:p.Glu430Val, XP_011517260.1:p.Glu427Val, XP_011517261.1:p.Glu418Val, XP_011517262.1:p.Glu417Val, XP_016870557.1:p.Glu403Val, XP_006717331.1:p.Glu427Val, XP_011517263.1:p.Glu397Val, XP_011517264.1:p.Glu396Val, XP_011517265.1:p.Glu393Val, XP_011517266.1:p.Glu392Val, NP_001269677.1:p.Glu417Val, NP_001269689.1:p.Glu264Val, XP_011517267.1:p.Glu386Val, XP_011517268.1:p.Glu385Val, XP_011517269.1:p.Glu376Val, NP_001338470.1:p.Glu398Val, XP_011517270.1:p.Glu372Val, NP_001338471.1:p.Glu386Val, XP_011517271.1:p.Glu358Val, XP_016870563.1:p.Glu376Val, NP_001338479.1:p.Glu365Val, NP_001338481.1:p.Glu364Val, NP_001338487.1:p.Glu361Val, NP_001269678.1:p.Glu360Val, XP_016870572.1:p.Glu334Val, NP_001269682.1:p.Glu316Val, NP_001338491.1:p.Glu309Val, NP_001338493.1:p.Glu291Val, XP_016870556.1:p.Glu416Val, NP_001338472.1:p.Glu384Val, NP_001338475.1:p.Glu383Val, NP_001338476.1:p.Glu368Val, NP_001338485.1:p.Glu362Val, NP_001338489.1:p.Glu359Val, NP_001338492.1:p.Glu307Val, XP_047279775.1:p.Glu399Val, XP_047279776.1:p.Glu358Val, XP_047279777.1:p.Glu340Val, XP_047279779.1:p.Glu335Val, XP_047279780.1:p.Glu459Val, XP_047279778.1:p.Glu338Val

                  9.

                  rs1478819905 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:79708213 (GRCh38)
                    9:82323128 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:79708212:G:A
                    Gene:
                    TLE4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000009.12:g.79708213G>A, NC_000009.11:g.82323128G>A, NM_007005.6:c.1032G>A, NM_007005.5:c.1032G>A, NM_007005.4:c.1032G>A, NM_007005.3:c.1032G>A, XM_011518972.4:c.183G>A, XM_011518972.3:c.183G>A, XM_011518972.2:c.183G>A, XM_011518972.1:c.183G>A, XM_011518970.4:c.1254G>A, XM_011518970.3:c.1254G>A, XM_011518970.2:c.1254G>A, XM_011518970.1:c.1254G>A, XM_011518953.3:c.1248G>A, XM_011518953.2:c.1248G>A, XM_011518953.1:c.1248G>A, XM_011518952.2:c.1254G>A, XM_011518952.1:c.1254G>A, XM_011518954.2:c.1209G>A, XM_011518954.1:c.1209G>A, XM_011518955.2:c.1191G>A, XM_011518955.1:c.1191G>A, XM_006717264.2:c.1254G>A, XM_006717264.1:c.1254G>A, XM_011518956.2:c.1170G>A, XM_011518956.1:c.1170G>A, XM_011518957.2:c.1167G>A, XM_011518957.1:c.1167G>A, XM_011518958.2:c.1158G>A, XM_011518958.1:c.1158G>A, XM_011518959.2:c.1131G>A, XM_011518959.1:c.1131G>A, XM_011518960.2:c.1128G>A, XM_011518960.1:c.1128G>A, NR_104239.2:n.1991G>A, NR_104239.1:n.2183G>A, XM_017015068.2:c.1086G>A, XM_017015068.1:c.1086G>A, XM_006717268.2:c.1158G>A, XM_006717268.1:c.1158G>A, XM_011518961.2:c.1068G>A, XM_011518961.1:c.1068G>A, XM_011518962.2:c.1065G>A, XM_011518962.1:c.1065G>A, XM_011518963.2:c.1056G>A, XM_011518963.1:c.1056G>A, XM_011518964.2:c.1053G>A, XM_011518964.1:c.1053G>A, NM_001282748.2:c.1128G>A, NM_001282748.1:c.1128G>A, NM_001282760.2:c.669G>A, NM_001282760.1:c.669G>A, XM_011518965.2:c.1035G>A, XM_011518965.1:c.1035G>A, XM_011518966.2:c.1032G>A, XM_011518966.1:c.1032G>A, XM_011518967.2:c.1005G>A, XM_011518967.1:c.1005G>A, NM_001351541.2:c.1071G>A, NM_001351541.1:c.1071G>A, XM_011518968.2:c.993G>A, XM_011518968.1:c.993G>A, NM_001351542.2:c.1035G>A, NM_001351542.1:c.1035G>A, XM_011518969.2:c.951G>A, XM_011518969.1:c.951G>A, XM_017015074.2:c.1005G>A, XM_017015074.1:c.1005G>A, NM_001351550.2:c.972G>A, NM_001351550.1:c.972G>A, NM_001351552.2:c.969G>A, NM_001351552.1:c.969G>A, NM_001351558.2:c.960G>A, NM_001351558.1:c.960G>A, NM_001282749.2:c.957G>A, NM_001282749.1:c.957G>A, XM_017015083.2:c.879G>A, XM_017015083.1:c.879G>A, NM_001282753.2:c.825G>A, NM_001282753.1:c.825G>A, NM_001351562.2:c.804G>A, NM_001351562.1:c.804G>A, NM_001351564.2:c.750G>A, NM_001351564.1:c.750G>A, XM_017015067.2:c.1125G>A, XM_017015067.1:c.1125G>A, NM_001351543.2:c.1029G>A, NM_001351543.1:c.1029G>A, NM_001351546.2:c.1026G>A, NM_001351546.1:c.1026G>A, NM_001351547.2:c.981G>A, NM_001351547.1:c.981G>A, NM_001351556.2:c.963G>A, NM_001351556.1:c.963G>A, NM_001351560.2:c.954G>A, NM_001351560.1:c.954G>A, NM_001351563.2:c.798G>A, NM_001351563.1:c.798G>A, XM_047423819.1:c.1074G>A, XM_047423820.1:c.951G>A, XM_047423821.1:c.897G>A, XM_047423823.1:c.882G>A, XM_047423824.1:c.1254G>A, XM_047423822.1:c.891G>A

                    10.

                    rs1478429619 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:79706794 (GRCh38)
                      9:82321709 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:79706793:T:C
                      Gene:
                      TLE4 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000009.12:g.79706794T>C, NC_000009.11:g.82321709T>C, NM_007005.6:c.831T>C, NM_007005.5:c.831T>C, NM_007005.4:c.831T>C, NM_007005.3:c.831T>C, XM_011518970.4:c.957T>C, XM_011518970.3:c.957T>C, XM_011518970.2:c.957T>C, XM_011518970.1:c.957T>C, XM_011518953.3:c.951T>C, XM_011518953.2:c.951T>C, XM_011518953.1:c.951T>C, XM_011518952.2:c.957T>C, XM_011518952.1:c.957T>C, XM_011518954.2:c.912T>C, XM_011518954.1:c.912T>C, XM_011518955.2:c.894T>C, XM_011518955.1:c.894T>C, XM_006717264.2:c.957T>C, XM_006717264.1:c.957T>C, XM_011518956.2:c.873T>C, XM_011518956.1:c.873T>C, XM_011518957.2:c.870T>C, XM_011518957.1:c.870T>C, XM_011518958.2:c.957T>C, XM_011518958.1:c.957T>C, XM_011518959.2:c.834T>C, XM_011518959.1:c.834T>C, XM_011518960.2:c.831T>C, XM_011518960.1:c.831T>C, NR_104239.2:n.1790T>C, NR_104239.1:n.1982T>C, XM_017015068.2:c.789T>C, XM_017015068.1:c.789T>C, XM_006717268.2:c.957T>C, XM_006717268.1:c.957T>C, XM_011518961.2:c.771T>C, XM_011518961.1:c.771T>C, XM_011518962.2:c.768T>C, XM_011518962.1:c.768T>C, XM_011518963.2:c.759T>C, XM_011518963.1:c.759T>C, XM_011518964.2:c.756T>C, XM_011518964.1:c.756T>C, NM_001282748.2:c.831T>C, NM_001282748.1:c.831T>C, NM_001282760.2:c.468T>C, NM_001282760.1:c.468T>C, XM_011518965.2:c.834T>C, XM_011518965.1:c.834T>C, XM_011518966.2:c.831T>C, XM_011518966.1:c.831T>C, NM_001351541.2:c.870T>C, NM_001351541.1:c.870T>C, XM_011518968.2:c.696T>C, XM_011518968.1:c.696T>C, NM_001351542.2:c.834T>C, NM_001351542.1:c.834T>C, NM_001351550.2:c.771T>C, NM_001351550.1:c.771T>C, NM_001351552.2:c.768T>C, NM_001351552.1:c.768T>C, NM_001351558.2:c.759T>C, NM_001351558.1:c.759T>C, NM_001282749.2:c.756T>C, NM_001282749.1:c.756T>C, XM_017015067.2:c.828T>C, XM_017015067.1:c.828T>C, NM_001351543.2:c.828T>C, NM_001351543.1:c.828T>C, NM_001351546.2:c.825T>C, NM_001351546.1:c.825T>C, NM_001351547.2:c.780T>C, NM_001351547.1:c.780T>C, NM_001351556.2:c.762T>C, NM_001351556.1:c.762T>C, NM_001351560.2:c.753T>C, NM_001351560.1:c.753T>C, XM_047423819.1:c.873T>C, XM_047423821.1:c.696T>C, XM_047423824.1:c.957T>C, XM_047423822.1:c.690T>C

                      11.

                      rs1478347301 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:79708686 (GRCh38)
                        9:82323601 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:79708685:G:A
                        Gene:
                        TLE4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.79708686G>A, NC_000009.11:g.82323601G>A, NM_007005.6:c.1163G>A, NM_007005.5:c.1163G>A, NM_007005.4:c.1163G>A, NM_007005.3:c.1163G>A, XM_011518972.4:c.314G>A, XM_011518972.3:c.314G>A, XM_011518972.2:c.314G>A, XM_011518972.1:c.314G>A, XM_011518970.4:c.1385G>A, XM_011518970.3:c.1385G>A, XM_011518970.2:c.1385G>A, XM_011518970.1:c.1385G>A, XM_011518953.3:c.1379G>A, XM_011518953.2:c.1379G>A, XM_011518953.1:c.1379G>A, XM_011518952.2:c.1385G>A, XM_011518952.1:c.1385G>A, XM_011518954.2:c.1340G>A, XM_011518954.1:c.1340G>A, XM_011518955.2:c.1322G>A, XM_011518955.1:c.1322G>A, XM_006717264.2:c.1385G>A, XM_006717264.1:c.1385G>A, XM_011518956.2:c.1301G>A, XM_011518956.1:c.1301G>A, XM_011518957.2:c.1298G>A, XM_011518957.1:c.1298G>A, XM_011518958.2:c.1289G>A, XM_011518958.1:c.1289G>A, XM_011518959.2:c.1262G>A, XM_011518959.1:c.1262G>A, XM_011518960.2:c.1259G>A, XM_011518960.1:c.1259G>A, NR_104239.2:n.2122G>A, NR_104239.1:n.2314G>A, XM_017015068.2:c.1217G>A, XM_017015068.1:c.1217G>A, XM_006717268.2:c.1289G>A, XM_006717268.1:c.1289G>A, XM_011518961.2:c.1199G>A, XM_011518961.1:c.1199G>A, XM_011518962.2:c.1196G>A, XM_011518962.1:c.1196G>A, XM_011518963.2:c.1187G>A, XM_011518963.1:c.1187G>A, XM_011518964.2:c.1184G>A, XM_011518964.1:c.1184G>A, NM_001282748.2:c.1259G>A, NM_001282748.1:c.1259G>A, NM_001282760.2:c.800G>A, NM_001282760.1:c.800G>A, XM_011518965.2:c.1166G>A, XM_011518965.1:c.1166G>A, XM_011518966.2:c.1163G>A, XM_011518966.1:c.1163G>A, XM_011518967.2:c.1136G>A, XM_011518967.1:c.1136G>A, NM_001351541.2:c.1202G>A, NM_001351541.1:c.1202G>A, XM_011518968.2:c.1124G>A, XM_011518968.1:c.1124G>A, NM_001351542.2:c.1166G>A, NM_001351542.1:c.1166G>A, XM_011518969.2:c.1082G>A, XM_011518969.1:c.1082G>A, XM_017015074.2:c.1136G>A, XM_017015074.1:c.1136G>A, NM_001351550.2:c.1103G>A, NM_001351550.1:c.1103G>A, NM_001351552.2:c.1100G>A, NM_001351552.1:c.1100G>A, NM_001351558.2:c.1091G>A, NM_001351558.1:c.1091G>A, NM_001282749.2:c.1088G>A, NM_001282749.1:c.1088G>A, XM_017015083.2:c.1010G>A, XM_017015083.1:c.1010G>A, NM_001282753.2:c.956G>A, NM_001282753.1:c.956G>A, NM_001351562.2:c.935G>A, NM_001351562.1:c.935G>A, NM_001351564.2:c.881G>A, NM_001351564.1:c.881G>A, XM_017015067.2:c.1256G>A, XM_017015067.1:c.1256G>A, NM_001351543.2:c.1160G>A, NM_001351543.1:c.1160G>A, NM_001351546.2:c.1157G>A, NM_001351546.1:c.1157G>A, NM_001351547.2:c.1112G>A, NM_001351547.1:c.1112G>A, NM_001351556.2:c.1094G>A, NM_001351556.1:c.1094G>A, NM_001351560.2:c.1085G>A, NM_001351560.1:c.1085G>A, NM_001351563.2:c.929G>A, NM_001351563.1:c.929G>A, XM_047423819.1:c.1205G>A, XM_047423820.1:c.1082G>A, XM_047423821.1:c.1028G>A, XM_047423823.1:c.1013G>A, XM_047423824.1:c.1385G>A, XM_047423822.1:c.1022G>A, NP_008936.2:p.Ser388Asn, XP_011517274.1:p.Ser105Asn, XP_011517272.1:p.Ser462Asn, XP_011517255.1:p.Ser460Asn, XP_011517254.1:p.Ser462Asn, XP_011517256.1:p.Ser447Asn, XP_011517257.1:p.Ser441Asn, XP_006717327.1:p.Ser462Asn, XP_011517258.1:p.Ser434Asn, XP_011517259.1:p.Ser433Asn, XP_011517260.1:p.Ser430Asn, XP_011517261.1:p.Ser421Asn, XP_011517262.1:p.Ser420Asn, XP_016870557.1:p.Ser406Asn, XP_006717331.1:p.Ser430Asn, XP_011517263.1:p.Ser400Asn, XP_011517264.1:p.Ser399Asn, XP_011517265.1:p.Ser396Asn, XP_011517266.1:p.Ser395Asn, NP_001269677.1:p.Ser420Asn, NP_001269689.1:p.Ser267Asn, XP_011517267.1:p.Ser389Asn, XP_011517268.1:p.Ser388Asn, XP_011517269.1:p.Ser379Asn, NP_001338470.1:p.Ser401Asn, XP_011517270.1:p.Ser375Asn, NP_001338471.1:p.Ser389Asn, XP_011517271.1:p.Ser361Asn, XP_016870563.1:p.Ser379Asn, NP_001338479.1:p.Ser368Asn, NP_001338481.1:p.Ser367Asn, NP_001338487.1:p.Ser364Asn, NP_001269678.1:p.Ser363Asn, XP_016870572.1:p.Ser337Asn, NP_001269682.1:p.Ser319Asn, NP_001338491.1:p.Ser312Asn, NP_001338493.1:p.Ser294Asn, XP_016870556.1:p.Ser419Asn, NP_001338472.1:p.Ser387Asn, NP_001338475.1:p.Ser386Asn, NP_001338476.1:p.Ser371Asn, NP_001338485.1:p.Ser365Asn, NP_001338489.1:p.Ser362Asn, NP_001338492.1:p.Ser310Asn, XP_047279775.1:p.Ser402Asn, XP_047279776.1:p.Ser361Asn, XP_047279777.1:p.Ser343Asn, XP_047279779.1:p.Ser338Asn, XP_047279780.1:p.Ser462Asn, XP_047279778.1:p.Ser341Asn

                        12.

                        rs1477712288 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          9:79706841 (GRCh38)
                          9:82321756 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:79706840:C:G
                          Gene:
                          TLE4 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.79706841C>G, NC_000009.11:g.82321756C>G, NM_007005.6:c.878C>G, NM_007005.5:c.878C>G, NM_007005.4:c.878C>G, NM_007005.3:c.878C>G, XM_011518972.4:c.-73C>G, XM_011518972.3:c.-73C>G, XM_011518972.2:c.-73C>G, XM_011518972.1:c.-73C>G, XM_011518970.4:c.1004C>G, XM_011518970.3:c.1004C>G, XM_011518970.2:c.1004C>G, XM_011518970.1:c.1004C>G, XM_011518953.3:c.998C>G, XM_011518953.2:c.998C>G, XM_011518953.1:c.998C>G, XM_011518952.2:c.1004C>G, XM_011518952.1:c.1004C>G, XM_011518954.2:c.959C>G, XM_011518954.1:c.959C>G, XM_011518955.2:c.941C>G, XM_011518955.1:c.941C>G, XM_006717264.2:c.1004C>G, XM_006717264.1:c.1004C>G, XM_011518956.2:c.920C>G, XM_011518956.1:c.920C>G, XM_011518957.2:c.917C>G, XM_011518957.1:c.917C>G, XM_011518958.2:c.1004C>G, XM_011518958.1:c.1004C>G, XM_011518959.2:c.881C>G, XM_011518959.1:c.881C>G, XM_011518960.2:c.878C>G, XM_011518960.1:c.878C>G, NR_104239.2:n.1837C>G, NR_104239.1:n.2029C>G, XM_017015068.2:c.836C>G, XM_017015068.1:c.836C>G, XM_006717268.2:c.1004C>G, XM_006717268.1:c.1004C>G, XM_011518961.2:c.818C>G, XM_011518961.1:c.818C>G, XM_011518962.2:c.815C>G, XM_011518962.1:c.815C>G, XM_011518963.2:c.806C>G, XM_011518963.1:c.806C>G, XM_011518964.2:c.803C>G, XM_011518964.1:c.803C>G, NM_001282748.2:c.878C>G, NM_001282748.1:c.878C>G, NM_001282760.2:c.515C>G, NM_001282760.1:c.515C>G, XM_011518965.2:c.881C>G, XM_011518965.1:c.881C>G, XM_011518966.2:c.878C>G, XM_011518966.1:c.878C>G, NM_001351541.2:c.917C>G, NM_001351541.1:c.917C>G, XM_011518968.2:c.743C>G, XM_011518968.1:c.743C>G, NM_001351542.2:c.881C>G, NM_001351542.1:c.881C>G, NM_001351550.2:c.818C>G, NM_001351550.1:c.818C>G, NM_001351552.2:c.815C>G, NM_001351552.1:c.815C>G, NM_001351558.2:c.806C>G, NM_001351558.1:c.806C>G, NM_001282749.2:c.803C>G, NM_001282749.1:c.803C>G, XM_017015067.2:c.875C>G, XM_017015067.1:c.875C>G, NM_001351543.2:c.875C>G, NM_001351543.1:c.875C>G, NM_001351546.2:c.872C>G, NM_001351546.1:c.872C>G, NM_001351547.2:c.827C>G, NM_001351547.1:c.827C>G, NM_001351556.2:c.809C>G, NM_001351556.1:c.809C>G, NM_001351560.2:c.800C>G, NM_001351560.1:c.800C>G, XM_047423819.1:c.920C>G, XM_047423821.1:c.743C>G, XM_047423824.1:c.1004C>G, XM_047423822.1:c.737C>G, NP_008936.2:p.Pro293Arg, XP_011517272.1:p.Pro335Arg, XP_011517255.1:p.Pro333Arg, XP_011517254.1:p.Pro335Arg, XP_011517256.1:p.Pro320Arg, XP_011517257.1:p.Pro314Arg, XP_006717327.1:p.Pro335Arg, XP_011517258.1:p.Pro307Arg, XP_011517259.1:p.Pro306Arg, XP_011517260.1:p.Pro335Arg, XP_011517261.1:p.Pro294Arg, XP_011517262.1:p.Pro293Arg, XP_016870557.1:p.Pro279Arg, XP_006717331.1:p.Pro335Arg, XP_011517263.1:p.Pro273Arg, XP_011517264.1:p.Pro272Arg, XP_011517265.1:p.Pro269Arg, XP_011517266.1:p.Pro268Arg, NP_001269677.1:p.Pro293Arg, NP_001269689.1:p.Pro172Arg, XP_011517267.1:p.Pro294Arg, XP_011517268.1:p.Pro293Arg, NP_001338470.1:p.Pro306Arg, XP_011517270.1:p.Pro248Arg, NP_001338471.1:p.Pro294Arg, NP_001338479.1:p.Pro273Arg, NP_001338481.1:p.Pro272Arg, NP_001338487.1:p.Pro269Arg, NP_001269678.1:p.Pro268Arg, XP_016870556.1:p.Pro292Arg, NP_001338472.1:p.Pro292Arg, NP_001338475.1:p.Pro291Arg, NP_001338476.1:p.Pro276Arg, NP_001338485.1:p.Pro270Arg, NP_001338489.1:p.Pro267Arg, XP_047279775.1:p.Pro307Arg, XP_047279777.1:p.Pro248Arg, XP_047279780.1:p.Pro335Arg, XP_047279778.1:p.Pro246Arg

                          13.

                          rs1476805564 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:79718031 (GRCh38)
                            9:82332946 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:79718030:G:A
                            Gene:
                            TLE4 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000007/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.79718031G>A, NC_000009.11:g.82332946G>A, XM_011518972.4:c.526G>A, XM_011518972.3:c.526G>A, XM_011518972.2:c.526G>A, XM_011518972.1:c.526G>A, XM_011518970.4:c.1597G>A, XM_011518970.3:c.1597G>A, XM_011518970.2:c.1597G>A, XM_011518970.1:c.1597G>A, XM_011518953.3:c.1591G>A, XM_011518953.2:c.1591G>A, XM_011518953.1:c.1591G>A, XM_011518952.2:c.1597G>A, XM_011518952.1:c.1597G>A, XM_011518954.2:c.1552G>A, XM_011518954.1:c.1552G>A, XM_011518955.2:c.1534G>A, XM_011518955.1:c.1534G>A, XM_011518956.2:c.1513G>A, XM_011518956.1:c.1513G>A, XM_011518957.2:c.1510G>A, XM_011518957.1:c.1510G>A, XM_011518958.2:c.1501G>A, XM_011518958.1:c.1501G>A, XM_011518959.2:c.1474G>A, XM_011518959.1:c.1474G>A, XM_011518960.2:c.1471G>A, XM_011518960.1:c.1471G>A, XM_017015068.2:c.1429G>A, XM_017015068.1:c.1429G>A, XM_011518961.2:c.1411G>A, XM_011518961.1:c.1411G>A, XM_011518962.2:c.1408G>A, XM_011518962.1:c.1408G>A, XM_011518963.2:c.1399G>A, XM_011518963.1:c.1399G>A, XM_011518964.2:c.1396G>A, XM_011518964.1:c.1396G>A, XM_011518965.2:c.1378G>A, XM_011518965.1:c.1378G>A, XM_011518966.2:c.1375G>A, XM_011518966.1:c.1375G>A, XM_011518967.2:c.1348G>A, XM_011518967.1:c.1348G>A, XM_011518968.2:c.1336G>A, XM_011518968.1:c.1336G>A, XM_011518969.2:c.1294G>A, XM_011518969.1:c.1294G>A, XM_017015067.2:c.1468G>A, XM_017015067.1:c.1468G>A, XP_011517274.1:p.Gly176Arg, XP_011517272.1:p.Gly533Arg, XP_011517255.1:p.Gly531Arg, XP_011517254.1:p.Gly533Arg, XP_011517256.1:p.Gly518Arg, XP_011517257.1:p.Gly512Arg, XP_011517258.1:p.Gly505Arg, XP_011517259.1:p.Gly504Arg, XP_011517260.1:p.Gly501Arg, XP_011517261.1:p.Gly492Arg, XP_011517262.1:p.Gly491Arg, XP_016870557.1:p.Gly477Arg, XP_011517263.1:p.Gly471Arg, XP_011517264.1:p.Gly470Arg, XP_011517265.1:p.Gly467Arg, XP_011517266.1:p.Gly466Arg, XP_011517267.1:p.Gly460Arg, XP_011517268.1:p.Gly459Arg, XP_011517269.1:p.Gly450Arg, XP_011517270.1:p.Gly446Arg, XP_011517271.1:p.Gly432Arg, XP_016870556.1:p.Gly490Arg

                            14.

                            rs1475891447 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:79706759 (GRCh38)
                              9:82321674 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:79706758:C:T
                              Gene:
                              TLE4 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                              HGVS:
                              NC_000009.12:g.79706759C>T, NC_000009.11:g.82321674C>T, NM_007005.6:c.796C>T, NM_007005.5:c.796C>T, NM_007005.4:c.796C>T, NM_007005.3:c.796C>T, XM_011518970.4:c.922C>T, XM_011518970.3:c.922C>T, XM_011518970.2:c.922C>T, XM_011518970.1:c.922C>T, XM_011518953.3:c.916C>T, XM_011518953.2:c.916C>T, XM_011518953.1:c.916C>T, XM_011518952.2:c.922C>T, XM_011518952.1:c.922C>T, XM_011518954.2:c.877C>T, XM_011518954.1:c.877C>T, XM_011518955.2:c.859C>T, XM_011518955.1:c.859C>T, XM_006717264.2:c.922C>T, XM_006717264.1:c.922C>T, XM_011518956.2:c.838C>T, XM_011518956.1:c.838C>T, XM_011518957.2:c.835C>T, XM_011518957.1:c.835C>T, XM_011518958.2:c.922C>T, XM_011518958.1:c.922C>T, XM_011518959.2:c.799C>T, XM_011518959.1:c.799C>T, XM_011518960.2:c.796C>T, XM_011518960.1:c.796C>T, NR_104239.2:n.1755C>T, NR_104239.1:n.1947C>T, XM_017015068.2:c.754C>T, XM_017015068.1:c.754C>T, XM_006717268.2:c.922C>T, XM_006717268.1:c.922C>T, XM_011518961.2:c.736C>T, XM_011518961.1:c.736C>T, XM_011518962.2:c.733C>T, XM_011518962.1:c.733C>T, XM_011518963.2:c.724C>T, XM_011518963.1:c.724C>T, XM_011518964.2:c.721C>T, XM_011518964.1:c.721C>T, NM_001282748.2:c.796C>T, NM_001282748.1:c.796C>T, NM_001282760.2:c.433C>T, NM_001282760.1:c.433C>T, XM_011518965.2:c.799C>T, XM_011518965.1:c.799C>T, XM_011518966.2:c.796C>T, XM_011518966.1:c.796C>T, NM_001351541.2:c.835C>T, NM_001351541.1:c.835C>T, XM_011518968.2:c.661C>T, XM_011518968.1:c.661C>T, NM_001351542.2:c.799C>T, NM_001351542.1:c.799C>T, NM_001351550.2:c.736C>T, NM_001351550.1:c.736C>T, NM_001351552.2:c.733C>T, NM_001351552.1:c.733C>T, NM_001351558.2:c.724C>T, NM_001351558.1:c.724C>T, NM_001282749.2:c.721C>T, NM_001282749.1:c.721C>T, XM_017015067.2:c.793C>T, XM_017015067.1:c.793C>T, NM_001351543.2:c.793C>T, NM_001351543.1:c.793C>T, NM_001351546.2:c.790C>T, NM_001351546.1:c.790C>T, NM_001351547.2:c.745C>T, NM_001351547.1:c.745C>T, NM_001351556.2:c.727C>T, NM_001351556.1:c.727C>T, NM_001351560.2:c.718C>T, NM_001351560.1:c.718C>T, XM_047423819.1:c.838C>T, XM_047423821.1:c.661C>T, XM_047423824.1:c.922C>T, XM_047423822.1:c.655C>T, NP_008936.2:p.Pro266Ser, XP_011517272.1:p.Pro308Ser, XP_011517255.1:p.Pro306Ser, XP_011517254.1:p.Pro308Ser, XP_011517256.1:p.Pro293Ser, XP_011517257.1:p.Pro287Ser, XP_006717327.1:p.Pro308Ser, XP_011517258.1:p.Pro280Ser, XP_011517259.1:p.Pro279Ser, XP_011517260.1:p.Pro308Ser, XP_011517261.1:p.Pro267Ser, XP_011517262.1:p.Pro266Ser, XP_016870557.1:p.Pro252Ser, XP_006717331.1:p.Pro308Ser, XP_011517263.1:p.Pro246Ser, XP_011517264.1:p.Pro245Ser, XP_011517265.1:p.Pro242Ser, XP_011517266.1:p.Pro241Ser, NP_001269677.1:p.Pro266Ser, NP_001269689.1:p.Pro145Ser, XP_011517267.1:p.Pro267Ser, XP_011517268.1:p.Pro266Ser, NP_001338470.1:p.Pro279Ser, XP_011517270.1:p.Pro221Ser, NP_001338471.1:p.Pro267Ser, NP_001338479.1:p.Pro246Ser, NP_001338481.1:p.Pro245Ser, NP_001338487.1:p.Pro242Ser, NP_001269678.1:p.Pro241Ser, XP_016870556.1:p.Pro265Ser, NP_001338472.1:p.Pro265Ser, NP_001338475.1:p.Pro264Ser, NP_001338476.1:p.Pro249Ser, NP_001338485.1:p.Pro243Ser, NP_001338489.1:p.Pro240Ser, XP_047279775.1:p.Pro280Ser, XP_047279777.1:p.Pro221Ser, XP_047279780.1:p.Pro308Ser, XP_047279778.1:p.Pro219Ser

                              15.

                              rs1474989732 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:79574936 (GRCh38)
                                9:82189851 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:79574935:G:A
                                Gene:
                                TLE4 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_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_000009.12:g.79574936G>A, NC_000009.11:g.82189851G>A, NM_007005.6:c.207G>A, NM_007005.5:c.207G>A, NM_007005.4:c.207G>A, NM_007005.3:c.207G>A, XM_011518970.4:c.207G>A, XM_011518970.3:c.207G>A, XM_011518970.2:c.207G>A, XM_011518970.1:c.207G>A, XM_011518953.3:c.201G>A, XM_011518953.2:c.201G>A, XM_011518953.1:c.201G>A, XM_011518952.2:c.207G>A, XM_011518952.1:c.207G>A, XM_011518954.2:c.207G>A, XM_011518954.1:c.207G>A, XM_011518955.2:c.207G>A, XM_011518955.1:c.207G>A, XM_006717264.2:c.207G>A, XM_006717264.1:c.207G>A, XM_011518956.2:c.207G>A, XM_011518956.1:c.207G>A, XM_011518957.2:c.207G>A, XM_011518957.1:c.207G>A, XM_011518958.2:c.207G>A, XM_011518958.1:c.207G>A, XM_011518959.2:c.207G>A, XM_011518959.1:c.207G>A, XM_011518960.2:c.207G>A, XM_011518960.1:c.207G>A, NR_104239.2:n.1033G>A, NR_104239.1:n.1225G>A, XM_017015068.2:c.207G>A, XM_017015068.1:c.207G>A, XM_006717268.2:c.207G>A, XM_006717268.1:c.207G>A, XM_011518961.2:c.207G>A, XM_011518961.1:c.207G>A, XM_011518962.2:c.207G>A, XM_011518962.1:c.207G>A, XM_011518963.2:c.207G>A, XM_011518963.1:c.207G>A, XM_011518964.2:c.207G>A, XM_011518964.1:c.207G>A, NM_001282748.2:c.207G>A, NM_001282748.1:c.207G>A, NM_001282760.2:c.-252G>A, NM_001282760.1:c.-252G>A, XM_011518965.2:c.207G>A, XM_011518965.1:c.207G>A, XM_011518966.2:c.207G>A, XM_011518966.1:c.207G>A, XM_011518967.2:c.207G>A, XM_011518967.1:c.207G>A, NM_001351541.2:c.207G>A, NM_001351541.1:c.207G>A, XM_011518968.2:c.207G>A, XM_011518968.1:c.207G>A, NM_001351542.2:c.207G>A, NM_001351542.1:c.207G>A, XM_011518969.2:c.207G>A, XM_011518969.1:c.207G>A, XM_017015074.2:c.207G>A, XM_017015074.1:c.207G>A, NM_001351550.2:c.207G>A, NM_001351550.1:c.207G>A, NM_001351552.2:c.207G>A, NM_001351552.1:c.207G>A, NM_001351558.2:c.207G>A, NM_001351558.1:c.207G>A, NM_001282749.2:c.207G>A, NM_001282749.1:c.207G>A, XM_017015083.2:c.207G>A, XM_017015083.1:c.207G>A, NM_001282753.2:c.207G>A, NM_001282753.1:c.207G>A, NM_001351562.2:c.207G>A, NM_001351562.1:c.207G>A, NM_001351564.2:c.207G>A, NM_001351564.1:c.207G>A, XM_017015067.2:c.201G>A, XM_017015067.1:c.201G>A, NM_001351543.2:c.201G>A, NM_001351543.1:c.201G>A, NM_001351546.2:c.201G>A, NM_001351546.1:c.201G>A, NM_001351547.2:c.201G>A, NM_001351547.1:c.201G>A, NM_001351556.2:c.201G>A, NM_001351556.1:c.201G>A, NM_001351560.2:c.201G>A, NM_001351560.1:c.201G>A, NM_001351563.2:c.201G>A, NM_001351563.1:c.201G>A, XM_047423819.1:c.207G>A, XM_047423820.1:c.207G>A, XM_047423821.1:c.207G>A, XM_047423823.1:c.207G>A, XM_047423824.1:c.207G>A, XM_047423822.1:c.201G>A, NP_008936.2:p.Met69Ile, XP_011517272.1:p.Met69Ile, XP_011517255.1:p.Met67Ile, XP_011517254.1:p.Met69Ile, XP_011517256.1:p.Met69Ile, XP_011517257.1:p.Met69Ile, XP_006717327.1:p.Met69Ile, XP_011517258.1:p.Met69Ile, XP_011517259.1:p.Met69Ile, XP_011517260.1:p.Met69Ile, XP_011517261.1:p.Met69Ile, XP_011517262.1:p.Met69Ile, XP_016870557.1:p.Met69Ile, XP_006717331.1:p.Met69Ile, XP_011517263.1:p.Met69Ile, XP_011517264.1:p.Met69Ile, XP_011517265.1:p.Met69Ile, XP_011517266.1:p.Met69Ile, NP_001269677.1:p.Met69Ile, XP_011517267.1:p.Met69Ile, XP_011517268.1:p.Met69Ile, XP_011517269.1:p.Met69Ile, NP_001338470.1:p.Met69Ile, XP_011517270.1:p.Met69Ile, NP_001338471.1:p.Met69Ile, XP_011517271.1:p.Met69Ile, XP_016870563.1:p.Met69Ile, NP_001338479.1:p.Met69Ile, NP_001338481.1:p.Met69Ile, NP_001338487.1:p.Met69Ile, NP_001269678.1:p.Met69Ile, XP_016870572.1:p.Met69Ile, NP_001269682.1:p.Met69Ile, NP_001338491.1:p.Met69Ile, NP_001338493.1:p.Met69Ile, XP_016870556.1:p.Met67Ile, NP_001338472.1:p.Met67Ile, NP_001338475.1:p.Met67Ile, NP_001338476.1:p.Met67Ile, NP_001338485.1:p.Met67Ile, NP_001338489.1:p.Met67Ile, NP_001338492.1:p.Met67Ile, XP_047279775.1:p.Met69Ile, XP_047279776.1:p.Met69Ile, XP_047279777.1:p.Met69Ile, XP_047279779.1:p.Met69Ile, XP_047279780.1:p.Met69Ile, XP_047279778.1:p.Met67Ile

                                16.

                                rs1473239190 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  9:79708131 (GRCh38)
                                  9:82323046 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:79708130:C:T
                                  Gene:
                                  TLE4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_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_000009.12:g.79708131C>T, NC_000009.11:g.82323046C>T, NM_007005.6:c.950C>T, NM_007005.5:c.950C>T, NM_007005.4:c.950C>T, NM_007005.3:c.950C>T, XM_011518972.4:c.101C>T, XM_011518972.3:c.101C>T, XM_011518972.2:c.101C>T, XM_011518972.1:c.101C>T, XM_011518970.4:c.1172C>T, XM_011518970.3:c.1172C>T, XM_011518970.2:c.1172C>T, XM_011518970.1:c.1172C>T, XM_011518953.3:c.1166C>T, XM_011518953.2:c.1166C>T, XM_011518953.1:c.1166C>T, XM_011518952.2:c.1172C>T, XM_011518952.1:c.1172C>T, XM_011518954.2:c.1127C>T, XM_011518954.1:c.1127C>T, XM_011518955.2:c.1109C>T, XM_011518955.1:c.1109C>T, XM_006717264.2:c.1172C>T, XM_006717264.1:c.1172C>T, XM_011518956.2:c.1088C>T, XM_011518956.1:c.1088C>T, XM_011518957.2:c.1085C>T, XM_011518957.1:c.1085C>T, XM_011518958.2:c.1076C>T, XM_011518958.1:c.1076C>T, XM_011518959.2:c.1049C>T, XM_011518959.1:c.1049C>T, XM_011518960.2:c.1046C>T, XM_011518960.1:c.1046C>T, NR_104239.2:n.1909C>T, NR_104239.1:n.2101C>T, XM_017015068.2:c.1004C>T, XM_017015068.1:c.1004C>T, XM_006717268.2:c.1076C>T, XM_006717268.1:c.1076C>T, XM_011518961.2:c.986C>T, XM_011518961.1:c.986C>T, XM_011518962.2:c.983C>T, XM_011518962.1:c.983C>T, XM_011518963.2:c.974C>T, XM_011518963.1:c.974C>T, XM_011518964.2:c.971C>T, XM_011518964.1:c.971C>T, NM_001282748.2:c.1046C>T, NM_001282748.1:c.1046C>T, NM_001282760.2:c.587C>T, NM_001282760.1:c.587C>T, XM_011518965.2:c.953C>T, XM_011518965.1:c.953C>T, XM_011518966.2:c.950C>T, XM_011518966.1:c.950C>T, XM_011518967.2:c.923C>T, XM_011518967.1:c.923C>T, NM_001351541.2:c.989C>T, NM_001351541.1:c.989C>T, XM_011518968.2:c.911C>T, XM_011518968.1:c.911C>T, NM_001351542.2:c.953C>T, NM_001351542.1:c.953C>T, XM_011518969.2:c.869C>T, XM_011518969.1:c.869C>T, XM_017015074.2:c.923C>T, XM_017015074.1:c.923C>T, NM_001351550.2:c.890C>T, NM_001351550.1:c.890C>T, NM_001351552.2:c.887C>T, NM_001351552.1:c.887C>T, NM_001351558.2:c.878C>T, NM_001351558.1:c.878C>T, NM_001282749.2:c.875C>T, NM_001282749.1:c.875C>T, XM_017015083.2:c.797C>T, XM_017015083.1:c.797C>T, NM_001282753.2:c.743C>T, NM_001282753.1:c.743C>T, NM_001351562.2:c.722C>T, NM_001351562.1:c.722C>T, NM_001351564.2:c.668C>T, NM_001351564.1:c.668C>T, XM_017015067.2:c.1043C>T, XM_017015067.1:c.1043C>T, NM_001351543.2:c.947C>T, NM_001351543.1:c.947C>T, NM_001351546.2:c.944C>T, NM_001351546.1:c.944C>T, NM_001351547.2:c.899C>T, NM_001351547.1:c.899C>T, NM_001351556.2:c.881C>T, NM_001351556.1:c.881C>T, NM_001351560.2:c.872C>T, NM_001351560.1:c.872C>T, NM_001351563.2:c.716C>T, NM_001351563.1:c.716C>T, XM_047423819.1:c.992C>T, XM_047423820.1:c.869C>T, XM_047423821.1:c.815C>T, XM_047423823.1:c.800C>T, XM_047423824.1:c.1172C>T, XM_047423822.1:c.809C>T, NP_008936.2:p.Thr317Ile, XP_011517274.1:p.Thr34Ile, XP_011517272.1:p.Thr391Ile, XP_011517255.1:p.Thr389Ile, XP_011517254.1:p.Thr391Ile, XP_011517256.1:p.Thr376Ile, XP_011517257.1:p.Thr370Ile, XP_006717327.1:p.Thr391Ile, XP_011517258.1:p.Thr363Ile, XP_011517259.1:p.Thr362Ile, XP_011517260.1:p.Thr359Ile, XP_011517261.1:p.Thr350Ile, XP_011517262.1:p.Thr349Ile, XP_016870557.1:p.Thr335Ile, XP_006717331.1:p.Thr359Ile, XP_011517263.1:p.Thr329Ile, XP_011517264.1:p.Thr328Ile, XP_011517265.1:p.Thr325Ile, XP_011517266.1:p.Thr324Ile, NP_001269677.1:p.Thr349Ile, NP_001269689.1:p.Thr196Ile, XP_011517267.1:p.Thr318Ile, XP_011517268.1:p.Thr317Ile, XP_011517269.1:p.Thr308Ile, NP_001338470.1:p.Thr330Ile, XP_011517270.1:p.Thr304Ile, NP_001338471.1:p.Thr318Ile, XP_011517271.1:p.Thr290Ile, XP_016870563.1:p.Thr308Ile, NP_001338479.1:p.Thr297Ile, NP_001338481.1:p.Thr296Ile, NP_001338487.1:p.Thr293Ile, NP_001269678.1:p.Thr292Ile, XP_016870572.1:p.Thr266Ile, NP_001269682.1:p.Thr248Ile, NP_001338491.1:p.Thr241Ile, NP_001338493.1:p.Thr223Ile, XP_016870556.1:p.Thr348Ile, NP_001338472.1:p.Thr316Ile, NP_001338475.1:p.Thr315Ile, NP_001338476.1:p.Thr300Ile, NP_001338485.1:p.Thr294Ile, NP_001338489.1:p.Thr291Ile, NP_001338492.1:p.Thr239Ile, XP_047279775.1:p.Thr331Ile, XP_047279776.1:p.Thr290Ile, XP_047279777.1:p.Thr272Ile, XP_047279779.1:p.Thr267Ile, XP_047279780.1:p.Thr391Ile, XP_047279778.1:p.Thr270Ile

                                  17.

                                  rs1473167400 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:79573693 (GRCh38)
                                    9:82188608 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:79573692:C:T
                                    Gene:
                                    TLE4 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_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_000009.12:g.79573693C>T, NC_000009.11:g.82188608C>T, NM_007005.6:c.50C>T, NM_007005.5:c.50C>T, NM_007005.4:c.50C>T, NM_007005.3:c.50C>T, XM_011518970.4:c.50C>T, XM_011518970.3:c.50C>T, XM_011518970.2:c.50C>T, XM_011518970.1:c.50C>T, XM_011518953.3:c.44C>T, XM_011518953.2:c.44C>T, XM_011518953.1:c.44C>T, XM_011518952.2:c.50C>T, XM_011518952.1:c.50C>T, XM_011518954.2:c.50C>T, XM_011518954.1:c.50C>T, XM_011518955.2:c.50C>T, XM_011518955.1:c.50C>T, XM_006717264.2:c.50C>T, XM_006717264.1:c.50C>T, XM_011518956.2:c.50C>T, XM_011518956.1:c.50C>T, XM_011518957.2:c.50C>T, XM_011518957.1:c.50C>T, XM_011518958.2:c.50C>T, XM_011518958.1:c.50C>T, XM_011518959.2:c.50C>T, XM_011518959.1:c.50C>T, XM_011518960.2:c.50C>T, XM_011518960.1:c.50C>T, NR_104239.2:n.876C>T, NR_104239.1:n.1068C>T, XM_017015068.2:c.50C>T, XM_017015068.1:c.50C>T, XM_006717268.2:c.50C>T, XM_006717268.1:c.50C>T, XM_011518961.2:c.50C>T, XM_011518961.1:c.50C>T, XM_011518962.2:c.50C>T, XM_011518962.1:c.50C>T, XM_011518963.2:c.50C>T, XM_011518963.1:c.50C>T, XM_011518964.2:c.50C>T, XM_011518964.1:c.50C>T, NM_001282748.2:c.50C>T, NM_001282748.1:c.50C>T, NM_001282760.2:c.-409C>T, NM_001282760.1:c.-409C>T, XM_011518965.2:c.50C>T, XM_011518965.1:c.50C>T, XM_011518966.2:c.50C>T, XM_011518966.1:c.50C>T, XM_011518967.2:c.50C>T, XM_011518967.1:c.50C>T, NM_001351541.2:c.50C>T, NM_001351541.1:c.50C>T, XM_011518968.2:c.50C>T, XM_011518968.1:c.50C>T, NM_001351542.2:c.50C>T, NM_001351542.1:c.50C>T, XM_011518969.2:c.50C>T, XM_011518969.1:c.50C>T, XM_017015074.2:c.50C>T, XM_017015074.1:c.50C>T, NM_001351550.2:c.50C>T, NM_001351550.1:c.50C>T, NM_001351552.2:c.50C>T, NM_001351552.1:c.50C>T, NM_001351558.2:c.50C>T, NM_001351558.1:c.50C>T, NM_001282749.2:c.50C>T, NM_001282749.1:c.50C>T, XM_017015083.2:c.50C>T, XM_017015083.1:c.50C>T, NM_001282753.2:c.50C>T, NM_001282753.1:c.50C>T, NM_001351562.2:c.50C>T, NM_001351562.1:c.50C>T, NM_001351564.2:c.50C>T, NM_001351564.1:c.50C>T, XM_017015067.2:c.44C>T, XM_017015067.1:c.44C>T, NM_001351543.2:c.44C>T, NM_001351543.1:c.44C>T, NM_001351546.2:c.44C>T, NM_001351546.1:c.44C>T, NM_001351547.2:c.44C>T, NM_001351547.1:c.44C>T, NM_001351556.2:c.44C>T, NM_001351556.1:c.44C>T, NM_001351560.2:c.44C>T, NM_001351560.1:c.44C>T, NM_001351563.2:c.44C>T, NM_001351563.1:c.44C>T, XM_047423819.1:c.50C>T, XM_047423820.1:c.50C>T, XM_047423821.1:c.50C>T, XM_047423823.1:c.50C>T, XM_047423824.1:c.50C>T, XM_047423822.1:c.44C>T, NP_008936.2:p.Pro17Leu, XP_011517272.1:p.Pro17Leu, XP_011517255.1:p.Pro15Leu, XP_011517254.1:p.Pro17Leu, XP_011517256.1:p.Pro17Leu, XP_011517257.1:p.Pro17Leu, XP_006717327.1:p.Pro17Leu, XP_011517258.1:p.Pro17Leu, XP_011517259.1:p.Pro17Leu, XP_011517260.1:p.Pro17Leu, XP_011517261.1:p.Pro17Leu, XP_011517262.1:p.Pro17Leu, XP_016870557.1:p.Pro17Leu, XP_006717331.1:p.Pro17Leu, XP_011517263.1:p.Pro17Leu, XP_011517264.1:p.Pro17Leu, XP_011517265.1:p.Pro17Leu, XP_011517266.1:p.Pro17Leu, NP_001269677.1:p.Pro17Leu, XP_011517267.1:p.Pro17Leu, XP_011517268.1:p.Pro17Leu, XP_011517269.1:p.Pro17Leu, NP_001338470.1:p.Pro17Leu, XP_011517270.1:p.Pro17Leu, NP_001338471.1:p.Pro17Leu, XP_011517271.1:p.Pro17Leu, XP_016870563.1:p.Pro17Leu, NP_001338479.1:p.Pro17Leu, NP_001338481.1:p.Pro17Leu, NP_001338487.1:p.Pro17Leu, NP_001269678.1:p.Pro17Leu, XP_016870572.1:p.Pro17Leu, NP_001269682.1:p.Pro17Leu, NP_001338491.1:p.Pro17Leu, NP_001338493.1:p.Pro17Leu, XP_016870556.1:p.Pro15Leu, NP_001338472.1:p.Pro15Leu, NP_001338475.1:p.Pro15Leu, NP_001338476.1:p.Pro15Leu, NP_001338485.1:p.Pro15Leu, NP_001338489.1:p.Pro15Leu, NP_001338492.1:p.Pro15Leu, XP_047279775.1:p.Pro17Leu, XP_047279776.1:p.Pro17Leu, XP_047279777.1:p.Pro17Leu, XP_047279779.1:p.Pro17Leu, XP_047279780.1:p.Pro17Leu, XP_047279778.1:p.Pro15Leu

                                    18.

                                    rs1471839706 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      9:79573784 (GRCh38)
                                      9:82188699 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:79573783:C:G
                                      Gene:
                                      TLE4 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.79573784C>G, NC_000009.11:g.82188699C>G, NM_007005.6:c.141C>G, NM_007005.5:c.141C>G, NM_007005.4:c.141C>G, NM_007005.3:c.141C>G, XM_011518970.4:c.141C>G, XM_011518970.3:c.141C>G, XM_011518970.2:c.141C>G, XM_011518970.1:c.141C>G, XM_011518953.3:c.135C>G, XM_011518953.2:c.135C>G, XM_011518953.1:c.135C>G, XM_011518952.2:c.141C>G, XM_011518952.1:c.141C>G, XM_011518954.2:c.141C>G, XM_011518954.1:c.141C>G, XM_011518955.2:c.141C>G, XM_011518955.1:c.141C>G, XM_006717264.2:c.141C>G, XM_006717264.1:c.141C>G, XM_011518956.2:c.141C>G, XM_011518956.1:c.141C>G, XM_011518957.2:c.141C>G, XM_011518957.1:c.141C>G, XM_011518958.2:c.141C>G, XM_011518958.1:c.141C>G, XM_011518959.2:c.141C>G, XM_011518959.1:c.141C>G, XM_011518960.2:c.141C>G, XM_011518960.1:c.141C>G, NR_104239.2:n.967C>G, NR_104239.1:n.1159C>G, XM_017015068.2:c.141C>G, XM_017015068.1:c.141C>G, XM_006717268.2:c.141C>G, XM_006717268.1:c.141C>G, XM_011518961.2:c.141C>G, XM_011518961.1:c.141C>G, XM_011518962.2:c.141C>G, XM_011518962.1:c.141C>G, XM_011518963.2:c.141C>G, XM_011518963.1:c.141C>G, XM_011518964.2:c.141C>G, XM_011518964.1:c.141C>G, NM_001282748.2:c.141C>G, NM_001282748.1:c.141C>G, NM_001282760.2:c.-318C>G, NM_001282760.1:c.-318C>G, XM_011518965.2:c.141C>G, XM_011518965.1:c.141C>G, XM_011518966.2:c.141C>G, XM_011518966.1:c.141C>G, XM_011518967.2:c.141C>G, XM_011518967.1:c.141C>G, NM_001351541.2:c.141C>G, NM_001351541.1:c.141C>G, XM_011518968.2:c.141C>G, XM_011518968.1:c.141C>G, NM_001351542.2:c.141C>G, NM_001351542.1:c.141C>G, XM_011518969.2:c.141C>G, XM_011518969.1:c.141C>G, XM_017015074.2:c.141C>G, XM_017015074.1:c.141C>G, NM_001351550.2:c.141C>G, NM_001351550.1:c.141C>G, NM_001351552.2:c.141C>G, NM_001351552.1:c.141C>G, NM_001351558.2:c.141C>G, NM_001351558.1:c.141C>G, NM_001282749.2:c.141C>G, NM_001282749.1:c.141C>G, XM_017015083.2:c.141C>G, XM_017015083.1:c.141C>G, NM_001282753.2:c.141C>G, NM_001282753.1:c.141C>G, NM_001351562.2:c.141C>G, NM_001351562.1:c.141C>G, NM_001351564.2:c.141C>G, NM_001351564.1:c.141C>G, XM_017015067.2:c.135C>G, XM_017015067.1:c.135C>G, NM_001351543.2:c.135C>G, NM_001351543.1:c.135C>G, NM_001351546.2:c.135C>G, NM_001351546.1:c.135C>G, NM_001351547.2:c.135C>G, NM_001351547.1:c.135C>G, NM_001351556.2:c.135C>G, NM_001351556.1:c.135C>G, NM_001351560.2:c.135C>G, NM_001351560.1:c.135C>G, NM_001351563.2:c.135C>G, NM_001351563.1:c.135C>G, XM_047423819.1:c.141C>G, XM_047423820.1:c.141C>G, XM_047423821.1:c.141C>G, XM_047423823.1:c.141C>G, XM_047423824.1:c.141C>G, XM_047423822.1:c.135C>G, NP_008936.2:p.His47Gln, XP_011517272.1:p.His47Gln, XP_011517255.1:p.His45Gln, XP_011517254.1:p.His47Gln, XP_011517256.1:p.His47Gln, XP_011517257.1:p.His47Gln, XP_006717327.1:p.His47Gln, XP_011517258.1:p.His47Gln, XP_011517259.1:p.His47Gln, XP_011517260.1:p.His47Gln, XP_011517261.1:p.His47Gln, XP_011517262.1:p.His47Gln, XP_016870557.1:p.His47Gln, XP_006717331.1:p.His47Gln, XP_011517263.1:p.His47Gln, XP_011517264.1:p.His47Gln, XP_011517265.1:p.His47Gln, XP_011517266.1:p.His47Gln, NP_001269677.1:p.His47Gln, XP_011517267.1:p.His47Gln, XP_011517268.1:p.His47Gln, XP_011517269.1:p.His47Gln, NP_001338470.1:p.His47Gln, XP_011517270.1:p.His47Gln, NP_001338471.1:p.His47Gln, XP_011517271.1:p.His47Gln, XP_016870563.1:p.His47Gln, NP_001338479.1:p.His47Gln, NP_001338481.1:p.His47Gln, NP_001338487.1:p.His47Gln, NP_001269678.1:p.His47Gln, XP_016870572.1:p.His47Gln, NP_001269682.1:p.His47Gln, NP_001338491.1:p.His47Gln, NP_001338493.1:p.His47Gln, XP_016870556.1:p.His45Gln, NP_001338472.1:p.His45Gln, NP_001338475.1:p.His45Gln, NP_001338476.1:p.His45Gln, NP_001338485.1:p.His45Gln, NP_001338489.1:p.His45Gln, NP_001338492.1:p.His45Gln, XP_047279775.1:p.His47Gln, XP_047279776.1:p.His47Gln, XP_047279777.1:p.His47Gln, XP_047279779.1:p.His47Gln, XP_047279780.1:p.His47Gln, XP_047279778.1:p.His45Gln

                                      19.

                                      rs1469892588 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        9:79706753 (GRCh38)
                                        9:82321668 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:79706752:T:A
                                        Gene:
                                        TLE4 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.79706753T>A, NC_000009.11:g.82321668T>A, NM_007005.6:c.790T>A, NM_007005.5:c.790T>A, NM_007005.4:c.790T>A, NM_007005.3:c.790T>A, XM_011518970.4:c.916T>A, XM_011518970.3:c.916T>A, XM_011518970.2:c.916T>A, XM_011518970.1:c.916T>A, XM_011518953.3:c.910T>A, XM_011518953.2:c.910T>A, XM_011518953.1:c.910T>A, XM_011518952.2:c.916T>A, XM_011518952.1:c.916T>A, XM_011518954.2:c.871T>A, XM_011518954.1:c.871T>A, XM_011518955.2:c.853T>A, XM_011518955.1:c.853T>A, XM_006717264.2:c.916T>A, XM_006717264.1:c.916T>A, XM_011518956.2:c.832T>A, XM_011518956.1:c.832T>A, XM_011518957.2:c.829T>A, XM_011518957.1:c.829T>A, XM_011518958.2:c.916T>A, XM_011518958.1:c.916T>A, XM_011518959.2:c.793T>A, XM_011518959.1:c.793T>A, XM_011518960.2:c.790T>A, XM_011518960.1:c.790T>A, NR_104239.2:n.1749T>A, NR_104239.1:n.1941T>A, XM_017015068.2:c.748T>A, XM_017015068.1:c.748T>A, XM_006717268.2:c.916T>A, XM_006717268.1:c.916T>A, XM_011518961.2:c.730T>A, XM_011518961.1:c.730T>A, XM_011518962.2:c.727T>A, XM_011518962.1:c.727T>A, XM_011518963.2:c.718T>A, XM_011518963.1:c.718T>A, XM_011518964.2:c.715T>A, XM_011518964.1:c.715T>A, NM_001282748.2:c.790T>A, NM_001282748.1:c.790T>A, NM_001282760.2:c.427T>A, NM_001282760.1:c.427T>A, XM_011518965.2:c.793T>A, XM_011518965.1:c.793T>A, XM_011518966.2:c.790T>A, XM_011518966.1:c.790T>A, NM_001351541.2:c.829T>A, NM_001351541.1:c.829T>A, XM_011518968.2:c.655T>A, XM_011518968.1:c.655T>A, NM_001351542.2:c.793T>A, NM_001351542.1:c.793T>A, NM_001351550.2:c.730T>A, NM_001351550.1:c.730T>A, NM_001351552.2:c.727T>A, NM_001351552.1:c.727T>A, NM_001351558.2:c.718T>A, NM_001351558.1:c.718T>A, NM_001282749.2:c.715T>A, NM_001282749.1:c.715T>A, XM_017015067.2:c.787T>A, XM_017015067.1:c.787T>A, NM_001351543.2:c.787T>A, NM_001351543.1:c.787T>A, NM_001351546.2:c.784T>A, NM_001351546.1:c.784T>A, NM_001351547.2:c.739T>A, NM_001351547.1:c.739T>A, NM_001351556.2:c.721T>A, NM_001351556.1:c.721T>A, NM_001351560.2:c.712T>A, NM_001351560.1:c.712T>A, XM_047423819.1:c.832T>A, XM_047423821.1:c.655T>A, XM_047423824.1:c.916T>A, XM_047423822.1:c.649T>A, NP_008936.2:p.Ser264Thr, XP_011517272.1:p.Ser306Thr, XP_011517255.1:p.Ser304Thr, XP_011517254.1:p.Ser306Thr, XP_011517256.1:p.Ser291Thr, XP_011517257.1:p.Ser285Thr, XP_006717327.1:p.Ser306Thr, XP_011517258.1:p.Ser278Thr, XP_011517259.1:p.Ser277Thr, XP_011517260.1:p.Ser306Thr, XP_011517261.1:p.Ser265Thr, XP_011517262.1:p.Ser264Thr, XP_016870557.1:p.Ser250Thr, XP_006717331.1:p.Ser306Thr, XP_011517263.1:p.Ser244Thr, XP_011517264.1:p.Ser243Thr, XP_011517265.1:p.Ser240Thr, XP_011517266.1:p.Ser239Thr, NP_001269677.1:p.Ser264Thr, NP_001269689.1:p.Ser143Thr, XP_011517267.1:p.Ser265Thr, XP_011517268.1:p.Ser264Thr, NP_001338470.1:p.Ser277Thr, XP_011517270.1:p.Ser219Thr, NP_001338471.1:p.Ser265Thr, NP_001338479.1:p.Ser244Thr, NP_001338481.1:p.Ser243Thr, NP_001338487.1:p.Ser240Thr, NP_001269678.1:p.Ser239Thr, XP_016870556.1:p.Ser263Thr, NP_001338472.1:p.Ser263Thr, NP_001338475.1:p.Ser262Thr, NP_001338476.1:p.Ser247Thr, NP_001338485.1:p.Ser241Thr, NP_001338489.1:p.Ser238Thr, XP_047279775.1:p.Ser278Thr, XP_047279777.1:p.Ser219Thr, XP_047279780.1:p.Ser306Thr, XP_047279778.1:p.Ser217Thr

                                        20.

                                        rs1469509171 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          9:79707160 (GRCh38)
                                          9:82322075 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:79707159:G:T
                                          Gene:
                                          TLE4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.79707160G>T, NC_000009.11:g.82322075G>T, XM_011518972.4:c.29G>T, XM_011518972.3:c.29G>T, XM_011518972.2:c.29G>T, XM_011518972.1:c.29G>T, XM_011518970.4:c.1100G>T, XM_011518970.3:c.1100G>T, XM_011518970.2:c.1100G>T, XM_011518970.1:c.1100G>T, XM_011518953.3:c.1094G>T, XM_011518953.2:c.1094G>T, XM_011518953.1:c.1094G>T, XM_011518952.2:c.1100G>T, XM_011518952.1:c.1100G>T, XM_011518954.2:c.1055G>T, XM_011518954.1:c.1055G>T, XM_011518955.2:c.1037G>T, XM_011518955.1:c.1037G>T, XM_006717264.2:c.1100G>T, XM_006717264.1:c.1100G>T, XM_011518956.2:c.1016G>T, XM_011518956.1:c.1016G>T, XM_011518957.2:c.1013G>T, XM_011518957.1:c.1013G>T, XM_011518959.2:c.977G>T, XM_011518959.1:c.977G>T, XM_011518960.2:c.974G>T, XM_011518960.1:c.974G>T, XM_017015068.2:c.932G>T, XM_017015068.1:c.932G>T, XM_011518961.2:c.914G>T, XM_011518961.1:c.914G>T, XM_011518962.2:c.911G>T, XM_011518962.1:c.911G>T, XM_011518963.2:c.902G>T, XM_011518963.1:c.902G>T, XM_011518964.2:c.899G>T, XM_011518964.1:c.899G>T, NM_001282748.2:c.974G>T, NM_001282748.1:c.974G>T, XM_011518968.2:c.839G>T, XM_011518968.1:c.839G>T, XM_017015067.2:c.971G>T, XM_017015067.1:c.971G>T, XM_047423824.1:c.1100G>T, XP_011517274.1:p.Ser10Ile, XP_011517272.1:p.Ser367Ile, XP_011517255.1:p.Ser365Ile, XP_011517254.1:p.Ser367Ile, XP_011517256.1:p.Ser352Ile, XP_011517257.1:p.Ser346Ile, XP_006717327.1:p.Ser367Ile, XP_011517258.1:p.Ser339Ile, XP_011517259.1:p.Ser338Ile, XP_011517261.1:p.Ser326Ile, XP_011517262.1:p.Ser325Ile, XP_016870557.1:p.Ser311Ile, XP_011517263.1:p.Ser305Ile, XP_011517264.1:p.Ser304Ile, XP_011517265.1:p.Ser301Ile, XP_011517266.1:p.Ser300Ile, NP_001269677.1:p.Ser325Ile, XP_011517270.1:p.Ser280Ile, XP_016870556.1:p.Ser324Ile, XP_047279780.1:p.Ser367Ile

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