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Items: 1 to 20 of 678

1.

rs1490373916 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    15:70060551 (GRCh38)
    15:70352890 (GRCh37)
    Canonical SPDI:
    NC_000015.10:70060550:C:G
    Gene:
    TLE3 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000015.10:g.70060551C>G, NC_000015.9:g.70352890C>G, XM_005254622.6:c.723G>C, XM_005254622.5:c.723G>C, XM_005254622.4:c.723G>C, XM_005254622.3:c.723G>C, XM_005254622.2:c.723G>C, XM_005254622.1:c.723G>C, XM_005254623.5:c.723G>C, XM_005254623.4:c.723G>C, XM_005254623.3:c.723G>C, XM_005254623.2:c.723G>C, XM_005254623.1:c.723G>C, XM_005254625.5:c.723G>C, XM_005254625.4:c.723G>C, XM_005254625.3:c.723G>C, XM_005254625.2:c.723G>C, XM_005254625.1:c.723G>C, XM_005254628.5:c.723G>C, XM_005254628.4:c.723G>C, XM_005254628.3:c.723G>C, XM_005254628.2:c.723G>C, XM_005254628.1:c.723G>C, XM_006720665.5:c.690G>C, XM_006720665.4:c.690G>C, XM_006720665.3:c.690G>C, XM_006720665.2:c.690G>C, XM_006720665.1:c.690G>C, XM_011521976.4:c.723G>C, XM_011521976.3:c.723G>C, XM_011521976.2:c.723G>C, XM_011521976.1:c.723G>C, XM_011521977.4:c.720G>C, XM_011521977.3:c.720G>C, XM_011521977.2:c.720G>C, XM_011521977.1:c.720G>C, XM_011521978.4:c.723G>C, XM_011521978.3:c.723G>C, XM_011521978.2:c.723G>C, XM_011521978.1:c.723G>C, NM_005078.4:c.693G>C, NM_005078.3:c.693G>C, NM_005078.2:c.693G>C, XM_011521980.4:c.690G>C, XM_011521980.3:c.690G>C, XM_011521980.2:c.690G>C, XM_011521980.1:c.690G>C, XM_005254633.4:c.693G>C, XM_005254633.3:c.693G>C, XM_005254633.2:c.693G>C, XM_005254633.1:c.693G>C, XM_011521982.4:c.471G>C, XM_011521982.3:c.471G>C, XM_011521982.2:c.471G>C, XM_011521982.1:c.471G>C, XM_011521983.4:c.471G>C, XM_011521983.3:c.471G>C, XM_011521983.2:c.471G>C, XM_011521983.1:c.471G>C, XM_011521979.4:c.522G>C, XM_011521979.3:c.522G>C, XM_011521979.2:c.522G>C, XM_011521979.1:c.522G>C, NM_001105192.3:c.693G>C, NM_001105192.2:c.693G>C, NM_001105192.1:c.693G>C, NM_020908.3:c.693G>C, NM_020908.2:c.693G>C, NM_020908.1:c.693G>C, XM_011521981.3:c.723G>C, XM_011521981.2:c.723G>C, XM_011521981.1:c.723G>C, XM_017022532.3:c.723G>C, XM_017022532.2:c.723G>C, XM_017022532.1:c.723G>C, NM_001282980.2:c.693G>C, NM_001282980.1:c.693G>C, NM_001282979.2:c.693G>C, NM_001282979.1:c.693G>C, NM_001282981.2:c.672G>C, NM_001282981.1:c.672G>C, NM_001282982.2:c.525G>C, NM_001282982.1:c.525G>C, XM_047432992.1:c.471G>C, XM_047432993.1:c.471G>C, XP_005254679.1:p.Glu241Asp, XP_005254680.1:p.Glu241Asp, XP_005254682.1:p.Glu241Asp, XP_005254685.1:p.Glu241Asp, XP_006720728.1:p.Glu230Asp, XP_011520278.1:p.Glu241Asp, XP_011520279.1:p.Glu240Asp, XP_011520280.1:p.Glu241Asp, NP_005069.2:p.Glu231Asp, XP_011520282.1:p.Glu230Asp, XP_005254690.1:p.Glu231Asp, XP_011520284.1:p.Glu157Asp, XP_011520285.1:p.Glu157Asp, XP_011520281.1:p.Glu174Asp, NP_001098662.1:p.Glu231Asp, NP_065959.1:p.Glu231Asp, XP_011520283.1:p.Glu241Asp, XP_016878021.1:p.Glu241Asp, NP_001269909.1:p.Glu231Asp, NP_001269908.1:p.Glu231Asp, NP_001269910.1:p.Glu224Asp, NP_001269911.1:p.Glu175Asp, XP_047288948.1:p.Glu157Asp, XP_047288949.1:p.Glu157Asp

    2.

    rs1488999001 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:70053250 (GRCh38)
      15:70345589 (GRCh37)
      Canonical SPDI:
      NC_000015.10:70053249:G:A
      Gene:
      TLE3 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,stop_gained,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.00006/1 (ALFA)
      HGVS:
      NC_000015.10:g.70053250G>A, NC_000015.9:g.70345589G>A, XM_005254622.6:c.1981C>T, XM_005254622.5:c.1981C>T, XM_005254622.4:c.1981C>T, XM_005254622.3:c.1981C>T, XM_005254622.2:c.1981C>T, XM_005254622.1:c.1981C>T, XM_005254623.5:c.1966C>T, XM_005254623.4:c.1966C>T, XM_005254623.3:c.1966C>T, XM_005254623.2:c.1966C>T, XM_005254623.1:c.1966C>T, XM_005254625.5:c.1954C>T, XM_005254625.4:c.1954C>T, XM_005254625.3:c.1954C>T, XM_005254625.2:c.1954C>T, XM_005254625.1:c.1954C>T, XM_005254628.5:c.1939C>T, XM_005254628.4:c.1939C>T, XM_005254628.3:c.1939C>T, XM_005254628.2:c.1939C>T, XM_005254628.1:c.1939C>T, XM_006720665.5:c.1933C>T, XM_006720665.4:c.1933C>T, XM_006720665.3:c.1933C>T, XM_006720665.2:c.1933C>T, XM_006720665.1:c.1933C>T, XM_011521976.4:c.1990C>T, XM_011521976.3:c.1990C>T, XM_011521976.2:c.1990C>T, XM_011521976.1:c.1990C>T, XM_011521977.4:c.1987C>T, XM_011521977.3:c.1987C>T, XM_011521977.2:c.1987C>T, XM_011521977.1:c.1987C>T, XM_011521978.4:c.1975C>T, XM_011521978.3:c.1975C>T, XM_011521978.2:c.1975C>T, XM_011521978.1:c.1975C>T, NM_005078.4:c.1960C>T, NM_005078.3:c.1960C>T, NM_005078.2:c.1960C>T, XM_011521980.4:c.1957C>T, XM_011521980.3:c.1957C>T, XM_011521980.2:c.1957C>T, XM_011521980.1:c.1957C>T, XM_005254633.4:c.1909C>T, XM_005254633.3:c.1909C>T, XM_005254633.2:c.1909C>T, XM_005254633.1:c.1909C>T, XM_011521982.4:c.1738C>T, XM_011521982.3:c.1738C>T, XM_011521982.2:c.1738C>T, XM_011521982.1:c.1738C>T, XM_011521983.4:c.1723C>T, XM_011521983.3:c.1723C>T, XM_011521983.2:c.1723C>T, XM_011521983.1:c.1723C>T, XM_011521979.4:c.1774C>T, XM_011521979.3:c.1774C>T, XM_011521979.2:c.1774C>T, XM_011521979.1:c.1774C>T, NM_001105192.3:c.1951C>T, NM_001105192.2:c.1951C>T, NM_001105192.1:c.1951C>T, NM_020908.3:c.1924C>T, NM_020908.2:c.1924C>T, NM_020908.1:c.1924C>T, XM_011521981.3:c.1990C>T, XM_011521981.2:c.1990C>T, XM_011521981.1:c.1990C>T, XM_017022532.3:c.*74C>T, XM_017022532.2:c.*74C>T, XM_017022532.1:c.*74C>T, NM_001282980.2:c.1945C>T, NM_001282980.1:c.1945C>T, NM_001282979.2:c.1936C>T, NM_001282979.1:c.1936C>T, NM_001282981.2:c.1930C>T, NM_001282981.1:c.1930C>T, NM_001282982.2:c.1741C>T, NM_001282982.1:c.1741C>T, XM_047432992.1:c.1729C>T, XM_047432993.1:c.1714C>T, XP_005254679.1:p.Gln661Ter, XP_005254680.1:p.Gln656Ter, XP_005254682.1:p.Gln652Ter, XP_005254685.1:p.Gln647Ter, XP_006720728.1:p.Gln645Ter, XP_011520278.1:p.Gln664Ter, XP_011520279.1:p.Gln663Ter, XP_011520280.1:p.Gln659Ter, NP_005069.2:p.Gln654Ter, XP_011520282.1:p.Gln653Ter, XP_005254690.1:p.Gln637Ter, XP_011520284.1:p.Gln580Ter, XP_011520285.1:p.Gln575Ter, XP_011520281.1:p.Gln592Ter, NP_001098662.1:p.Gln651Ter, NP_065959.1:p.Gln642Ter, XP_011520283.1:p.Gln664Ter, NP_001269909.1:p.Gln649Ter, NP_001269908.1:p.Gln646Ter, NP_001269910.1:p.Gln644Ter, NP_001269911.1:p.Gln581Ter, XP_047288948.1:p.Gln577Ter, XP_047288949.1:p.Gln572Ter

      3.

      rs1488899975 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:70066133 (GRCh38)
        15:70358472 (GRCh37)
        Canonical SPDI:
        NC_000015.10:70066132:G:A
        Gene:
        TLE3 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant
        HGVS:
        NC_000015.10:g.70066133G>A, NC_000015.9:g.70358472G>A, XM_005254622.6:c.488C>T, XM_005254622.5:c.488C>T, XM_005254622.4:c.488C>T, XM_005254622.3:c.488C>T, XM_005254622.2:c.488C>T, XM_005254622.1:c.488C>T, XM_005254623.5:c.488C>T, XM_005254623.4:c.488C>T, XM_005254623.3:c.488C>T, XM_005254623.2:c.488C>T, XM_005254623.1:c.488C>T, XM_005254625.5:c.488C>T, XM_005254625.4:c.488C>T, XM_005254625.3:c.488C>T, XM_005254625.2:c.488C>T, XM_005254625.1:c.488C>T, XM_005254628.5:c.488C>T, XM_005254628.4:c.488C>T, XM_005254628.3:c.488C>T, XM_005254628.2:c.488C>T, XM_005254628.1:c.488C>T, XM_006720665.5:c.455C>T, XM_006720665.4:c.455C>T, XM_006720665.3:c.455C>T, XM_006720665.2:c.455C>T, XM_006720665.1:c.455C>T, XM_011521976.4:c.488C>T, XM_011521976.3:c.488C>T, XM_011521976.2:c.488C>T, XM_011521976.1:c.488C>T, XM_011521977.4:c.485C>T, XM_011521977.3:c.485C>T, XM_011521977.2:c.485C>T, XM_011521977.1:c.485C>T, XM_011521978.4:c.488C>T, XM_011521978.3:c.488C>T, XM_011521978.2:c.488C>T, XM_011521978.1:c.488C>T, NM_005078.4:c.458C>T, NM_005078.3:c.458C>T, NM_005078.2:c.458C>T, XM_011521980.4:c.455C>T, XM_011521980.3:c.455C>T, XM_011521980.2:c.455C>T, XM_011521980.1:c.455C>T, XM_005254633.4:c.458C>T, XM_005254633.3:c.458C>T, XM_005254633.2:c.458C>T, XM_005254633.1:c.458C>T, XM_011521979.4:c.287C>T, XM_011521979.3:c.287C>T, XM_011521979.2:c.287C>T, XM_011521979.1:c.287C>T, NM_001105192.3:c.458C>T, NM_001105192.2:c.458C>T, NM_001105192.1:c.458C>T, NM_020908.3:c.458C>T, NM_020908.2:c.458C>T, NM_020908.1:c.458C>T, XM_011521981.3:c.488C>T, XM_011521981.2:c.488C>T, XM_011521981.1:c.488C>T, XM_017022532.3:c.488C>T, XM_017022532.2:c.488C>T, XM_017022532.1:c.488C>T, NM_001282980.2:c.458C>T, NM_001282980.1:c.458C>T, NM_001282979.2:c.458C>T, NM_001282979.1:c.458C>T, NM_001282981.2:c.437C>T, NM_001282981.1:c.437C>T, NM_001282982.2:c.290C>T, NM_001282982.1:c.290C>T, XP_005254679.1:p.Pro163Leu, XP_005254680.1:p.Pro163Leu, XP_005254682.1:p.Pro163Leu, XP_005254685.1:p.Pro163Leu, XP_006720728.1:p.Pro152Leu, XP_011520278.1:p.Pro163Leu, XP_011520279.1:p.Pro162Leu, XP_011520280.1:p.Pro163Leu, NP_005069.2:p.Pro153Leu, XP_011520282.1:p.Pro152Leu, XP_005254690.1:p.Pro153Leu, XP_011520281.1:p.Pro96Leu, NP_001098662.1:p.Pro153Leu, NP_065959.1:p.Pro153Leu, XP_011520283.1:p.Pro163Leu, XP_016878021.1:p.Pro163Leu, NP_001269909.1:p.Pro153Leu, NP_001269908.1:p.Pro153Leu, NP_001269910.1:p.Pro146Leu, NP_001269911.1:p.Pro97Leu

        4.

        rs1487478470 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          15:70096256 (GRCh38)
          15:70388595 (GRCh37)
          Canonical SPDI:
          NC_000015.10:70096255:G:A,NC_000015.10:70096255:G:C
          Gene:
          TLE3 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          C=0.000013/2 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.70096256G>A, NC_000015.10:g.70096256G>C, NC_000015.9:g.70388595G>A, NC_000015.9:g.70388595G>C, XM_005254622.6:c.30C>T, XM_005254622.6:c.30C>G, XM_005254622.5:c.30C>T, XM_005254622.5:c.30C>G, XM_005254622.4:c.30C>T, XM_005254622.4:c.30C>G, XM_005254622.3:c.30C>T, XM_005254622.3:c.30C>G, XM_005254622.2:c.30C>T, XM_005254622.2:c.30C>G, XM_005254622.1:c.30C>T, XM_005254622.1:c.30C>G, XM_005254623.5:c.30C>T, XM_005254623.5:c.30C>G, XM_005254623.4:c.30C>T, XM_005254623.4:c.30C>G, XM_005254623.3:c.30C>T, XM_005254623.3:c.30C>G, XM_005254623.2:c.30C>T, XM_005254623.2:c.30C>G, XM_005254623.1:c.30C>T, XM_005254623.1:c.30C>G, XM_005254625.5:c.30C>T, XM_005254625.5:c.30C>G, XM_005254625.4:c.30C>T, XM_005254625.4:c.30C>G, XM_005254625.3:c.30C>T, XM_005254625.3:c.30C>G, XM_005254625.2:c.30C>T, XM_005254625.2:c.30C>G, XM_005254625.1:c.30C>T, XM_005254625.1:c.30C>G, XM_005254628.5:c.30C>T, XM_005254628.5:c.30C>G, XM_005254628.4:c.30C>T, XM_005254628.4:c.30C>G, XM_005254628.3:c.30C>T, XM_005254628.3:c.30C>G, XM_005254628.2:c.30C>T, XM_005254628.2:c.30C>G, XM_005254628.1:c.30C>T, XM_005254628.1:c.30C>G, XM_006720665.5:c.30C>T, XM_006720665.5:c.30C>G, XM_006720665.4:c.30C>T, XM_006720665.4:c.30C>G, XM_006720665.3:c.30C>T, XM_006720665.3:c.30C>G, XM_006720665.2:c.30C>T, XM_006720665.2:c.30C>G, XM_006720665.1:c.30C>T, XM_006720665.1:c.30C>G, XM_011521976.4:c.30C>T, XM_011521976.4:c.30C>G, XM_011521976.3:c.30C>T, XM_011521976.3:c.30C>G, XM_011521976.2:c.30C>T, XM_011521976.2:c.30C>G, XM_011521976.1:c.30C>T, XM_011521976.1:c.30C>G, XM_011521977.4:c.30C>T, XM_011521977.4:c.30C>G, XM_011521977.3:c.30C>T, XM_011521977.3:c.30C>G, XM_011521977.2:c.30C>T, XM_011521977.2:c.30C>G, XM_011521977.1:c.30C>T, XM_011521977.1:c.30C>G, XM_011521978.4:c.30C>T, XM_011521978.4:c.30C>G, XM_011521978.3:c.30C>T, XM_011521978.3:c.30C>G, XM_011521978.2:c.30C>T, XM_011521978.2:c.30C>G, XM_011521978.1:c.30C>T, XM_011521978.1:c.30C>G, NM_005078.4:c.30C>T, NM_005078.4:c.30C>G, NM_005078.3:c.30C>T, NM_005078.3:c.30C>G, NM_005078.2:c.30C>T, NM_005078.2:c.30C>G, XM_011521980.4:c.30C>T, XM_011521980.4:c.30C>G, XM_011521980.3:c.30C>T, XM_011521980.3:c.30C>G, XM_011521980.2:c.30C>T, XM_011521980.2:c.30C>G, XM_011521980.1:c.30C>T, XM_011521980.1:c.30C>G, XM_005254633.4:c.30C>T, XM_005254633.4:c.30C>G, XM_005254633.3:c.30C>T, XM_005254633.3:c.30C>G, XM_005254633.2:c.30C>T, XM_005254633.2:c.30C>G, XM_005254633.1:c.30C>T, XM_005254633.1:c.30C>G, XM_011521982.4:c.30C>T, XM_011521982.4:c.30C>G, XM_011521982.3:c.30C>T, XM_011521982.3:c.30C>G, XM_011521982.2:c.30C>T, XM_011521982.2:c.30C>G, XM_011521982.1:c.30C>T, XM_011521982.1:c.30C>G, XM_011521983.4:c.30C>T, XM_011521983.4:c.30C>G, XM_011521983.3:c.30C>T, XM_011521983.3:c.30C>G, XM_011521983.2:c.30C>T, XM_011521983.2:c.30C>G, XM_011521983.1:c.30C>T, XM_011521983.1:c.30C>G, XM_011521979.4:c.-139C>T, XM_011521979.4:c.-139C>G, XM_011521979.3:c.-139C>T, XM_011521979.3:c.-139C>G, XM_011521979.2:c.-139C>T, XM_011521979.2:c.-139C>G, XM_011521979.1:c.-139C>T, XM_011521979.1:c.-139C>G, NM_001105192.3:c.30C>T, NM_001105192.3:c.30C>G, NM_001105192.2:c.30C>T, NM_001105192.2:c.30C>G, NM_001105192.1:c.30C>T, NM_001105192.1:c.30C>G, NM_020908.3:c.30C>T, NM_020908.3:c.30C>G, NM_020908.2:c.30C>T, NM_020908.2:c.30C>G, NM_020908.1:c.30C>T, NM_020908.1:c.30C>G, XM_011521981.3:c.30C>T, XM_011521981.3:c.30C>G, XM_011521981.2:c.30C>T, XM_011521981.2:c.30C>G, XM_011521981.1:c.30C>T, XM_011521981.1:c.30C>G, XM_017022532.3:c.30C>T, XM_017022532.3:c.30C>G, XM_017022532.2:c.30C>T, XM_017022532.2:c.30C>G, XM_017022532.1:c.30C>T, XM_017022532.1:c.30C>G, NM_001282980.2:c.30C>T, NM_001282980.2:c.30C>G, NM_001282980.1:c.30C>T, NM_001282980.1:c.30C>G, NM_001282979.2:c.30C>T, NM_001282979.2:c.30C>G, NM_001282979.1:c.30C>T, NM_001282979.1:c.30C>G, NM_001282981.2:c.9C>T, NM_001282981.2:c.9C>G, NM_001282981.1:c.9C>T, NM_001282981.1:c.9C>G, XM_047432992.1:c.30C>T, XM_047432992.1:c.30C>G, XM_047432993.1:c.30C>T, XM_047432993.1:c.30C>G

          5.

          rs1482729540 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:70094532 (GRCh38)
            15:70386871 (GRCh37)
            Canonical SPDI:
            NC_000015.10:70094531:C:T
            Gene:
            TLE3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            T=0.000012/2 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.70094532C>T, NC_000015.9:g.70386871C>T, XM_005254622.6:c.234G>A, XM_005254622.5:c.234G>A, XM_005254622.4:c.234G>A, XM_005254622.3:c.234G>A, XM_005254622.2:c.234G>A, XM_005254622.1:c.234G>A, XM_005254623.5:c.234G>A, XM_005254623.4:c.234G>A, XM_005254623.3:c.234G>A, XM_005254623.2:c.234G>A, XM_005254623.1:c.234G>A, XM_005254625.5:c.234G>A, XM_005254625.4:c.234G>A, XM_005254625.3:c.234G>A, XM_005254625.2:c.234G>A, XM_005254625.1:c.234G>A, XM_005254628.5:c.234G>A, XM_005254628.4:c.234G>A, XM_005254628.3:c.234G>A, XM_005254628.2:c.234G>A, XM_005254628.1:c.234G>A, XM_006720665.5:c.234G>A, XM_006720665.4:c.234G>A, XM_006720665.3:c.234G>A, XM_006720665.2:c.234G>A, XM_006720665.1:c.234G>A, XM_011521976.4:c.234G>A, XM_011521976.3:c.234G>A, XM_011521976.2:c.234G>A, XM_011521976.1:c.234G>A, XM_011521977.4:c.234G>A, XM_011521977.3:c.234G>A, XM_011521977.2:c.234G>A, XM_011521977.1:c.234G>A, XM_011521978.4:c.234G>A, XM_011521978.3:c.234G>A, XM_011521978.2:c.234G>A, XM_011521978.1:c.234G>A, NM_005078.4:c.234G>A, NM_005078.3:c.234G>A, NM_005078.2:c.234G>A, XM_011521980.4:c.234G>A, XM_011521980.3:c.234G>A, XM_011521980.2:c.234G>A, XM_011521980.1:c.234G>A, XM_005254633.4:c.234G>A, XM_005254633.3:c.234G>A, XM_005254633.2:c.234G>A, XM_005254633.1:c.234G>A, XM_011521982.4:c.234G>A, XM_011521982.3:c.234G>A, XM_011521982.2:c.234G>A, XM_011521982.1:c.234G>A, XM_011521983.4:c.234G>A, XM_011521983.3:c.234G>A, XM_011521983.2:c.234G>A, XM_011521983.1:c.234G>A, XM_011521979.4:c.66G>A, XM_011521979.3:c.66G>A, XM_011521979.2:c.66G>A, XM_011521979.1:c.66G>A, NM_001105192.3:c.234G>A, NM_001105192.2:c.234G>A, NM_001105192.1:c.234G>A, NM_020908.3:c.234G>A, NM_020908.2:c.234G>A, NM_020908.1:c.234G>A, XM_011521981.3:c.234G>A, XM_011521981.2:c.234G>A, XM_011521981.1:c.234G>A, XM_017022532.3:c.234G>A, XM_017022532.2:c.234G>A, XM_017022532.1:c.234G>A, NM_001282980.2:c.234G>A, NM_001282980.1:c.234G>A, NM_001282979.2:c.234G>A, NM_001282979.1:c.234G>A, NM_001282981.2:c.213G>A, NM_001282981.1:c.213G>A, NM_001282982.2:c.36G>A, NM_001282982.1:c.36G>A, XM_047432992.1:c.234G>A, XM_047432993.1:c.234G>A

            6.

            rs1482477926 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:70057586 (GRCh38)
              15:70349925 (GRCh37)
              Canonical SPDI:
              NC_000015.10:70057585:T:C
              Gene:
              TLE3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              NC_000015.10:g.70057586T>C, NC_000015.9:g.70349925T>C, XM_005254622.6:c.1154A>G, XM_005254622.5:c.1154A>G, XM_005254622.4:c.1154A>G, XM_005254622.3:c.1154A>G, XM_005254622.2:c.1154A>G, XM_005254622.1:c.1154A>G, XM_005254623.5:c.1154A>G, XM_005254623.4:c.1154A>G, XM_005254623.3:c.1154A>G, XM_005254623.2:c.1154A>G, XM_005254623.1:c.1154A>G, XM_005254625.5:c.1127A>G, XM_005254625.4:c.1127A>G, XM_005254625.3:c.1127A>G, XM_005254625.2:c.1127A>G, XM_005254625.1:c.1127A>G, XM_005254628.5:c.1127A>G, XM_005254628.4:c.1127A>G, XM_005254628.3:c.1127A>G, XM_005254628.2:c.1127A>G, XM_005254628.1:c.1127A>G, XM_006720665.5:c.1121A>G, XM_006720665.4:c.1121A>G, XM_006720665.3:c.1121A>G, XM_006720665.2:c.1121A>G, XM_006720665.1:c.1121A>G, XM_011521976.4:c.1163A>G, XM_011521976.3:c.1163A>G, XM_011521976.2:c.1163A>G, XM_011521976.1:c.1163A>G, XM_011521977.4:c.1160A>G, XM_011521977.3:c.1160A>G, XM_011521977.2:c.1160A>G, XM_011521977.1:c.1160A>G, XM_011521978.4:c.1163A>G, XM_011521978.3:c.1163A>G, XM_011521978.2:c.1163A>G, XM_011521978.1:c.1163A>G, NM_005078.4:c.1133A>G, NM_005078.3:c.1133A>G, NM_005078.2:c.1133A>G, XM_011521980.4:c.1130A>G, XM_011521980.3:c.1130A>G, XM_011521980.2:c.1130A>G, XM_011521980.1:c.1130A>G, XM_005254633.4:c.1097A>G, XM_005254633.3:c.1097A>G, XM_005254633.2:c.1097A>G, XM_005254633.1:c.1097A>G, XM_011521982.4:c.911A>G, XM_011521982.3:c.911A>G, XM_011521982.2:c.911A>G, XM_011521982.1:c.911A>G, XM_011521983.4:c.911A>G, XM_011521983.3:c.911A>G, XM_011521983.2:c.911A>G, XM_011521983.1:c.911A>G, XM_011521979.4:c.962A>G, XM_011521979.3:c.962A>G, XM_011521979.2:c.962A>G, XM_011521979.1:c.962A>G, NM_001105192.3:c.1124A>G, NM_001105192.2:c.1124A>G, NM_001105192.1:c.1124A>G, NM_020908.3:c.1097A>G, NM_020908.2:c.1097A>G, NM_020908.1:c.1097A>G, XM_011521981.3:c.1163A>G, XM_011521981.2:c.1163A>G, XM_011521981.1:c.1163A>G, XM_017022532.3:c.1163A>G, XM_017022532.2:c.1163A>G, XM_017022532.1:c.1163A>G, NM_001282980.2:c.1133A>G, NM_001282980.1:c.1133A>G, NM_001282979.2:c.1124A>G, NM_001282979.1:c.1124A>G, NM_001282981.2:c.1103A>G, NM_001282981.1:c.1103A>G, NM_001282982.2:c.929A>G, NM_001282982.1:c.929A>G, XM_047432992.1:c.902A>G, XM_047432993.1:c.902A>G, XP_005254679.1:p.Glu385Gly, XP_005254680.1:p.Glu385Gly, XP_005254682.1:p.Glu376Gly, XP_005254685.1:p.Glu376Gly, XP_006720728.1:p.Glu374Gly, XP_011520278.1:p.Glu388Gly, XP_011520279.1:p.Glu387Gly, XP_011520280.1:p.Glu388Gly, NP_005069.2:p.Glu378Gly, XP_011520282.1:p.Glu377Gly, XP_005254690.1:p.Glu366Gly, XP_011520284.1:p.Glu304Gly, XP_011520285.1:p.Glu304Gly, XP_011520281.1:p.Glu321Gly, NP_001098662.1:p.Glu375Gly, NP_065959.1:p.Glu366Gly, XP_011520283.1:p.Glu388Gly, XP_016878021.1:p.Glu388Gly, NP_001269909.1:p.Glu378Gly, NP_001269908.1:p.Glu375Gly, NP_001269910.1:p.Glu368Gly, NP_001269911.1:p.Glu310Gly, XP_047288948.1:p.Glu301Gly, XP_047288949.1:p.Glu301Gly

              7.

              rs1476232509 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                15:70057584 (GRCh38)
                15:70349923 (GRCh37)
                Canonical SPDI:
                NC_000015.10:70057583:T:A
                Gene:
                TLE3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000015.10:g.70057584T>A, NC_000015.9:g.70349923T>A, XM_005254622.6:c.1156A>T, XM_005254622.5:c.1156A>T, XM_005254622.4:c.1156A>T, XM_005254622.3:c.1156A>T, XM_005254622.2:c.1156A>T, XM_005254622.1:c.1156A>T, XM_005254623.5:c.1156A>T, XM_005254623.4:c.1156A>T, XM_005254623.3:c.1156A>T, XM_005254623.2:c.1156A>T, XM_005254623.1:c.1156A>T, XM_005254625.5:c.1129A>T, XM_005254625.4:c.1129A>T, XM_005254625.3:c.1129A>T, XM_005254625.2:c.1129A>T, XM_005254625.1:c.1129A>T, XM_005254628.5:c.1129A>T, XM_005254628.4:c.1129A>T, XM_005254628.3:c.1129A>T, XM_005254628.2:c.1129A>T, XM_005254628.1:c.1129A>T, XM_006720665.5:c.1123A>T, XM_006720665.4:c.1123A>T, XM_006720665.3:c.1123A>T, XM_006720665.2:c.1123A>T, XM_006720665.1:c.1123A>T, XM_011521976.4:c.1165A>T, XM_011521976.3:c.1165A>T, XM_011521976.2:c.1165A>T, XM_011521976.1:c.1165A>T, XM_011521977.4:c.1162A>T, XM_011521977.3:c.1162A>T, XM_011521977.2:c.1162A>T, XM_011521977.1:c.1162A>T, XM_011521978.4:c.1165A>T, XM_011521978.3:c.1165A>T, XM_011521978.2:c.1165A>T, XM_011521978.1:c.1165A>T, NM_005078.4:c.1135A>T, NM_005078.3:c.1135A>T, NM_005078.2:c.1135A>T, XM_011521980.4:c.1132A>T, XM_011521980.3:c.1132A>T, XM_011521980.2:c.1132A>T, XM_011521980.1:c.1132A>T, XM_005254633.4:c.1099A>T, XM_005254633.3:c.1099A>T, XM_005254633.2:c.1099A>T, XM_005254633.1:c.1099A>T, XM_011521982.4:c.913A>T, XM_011521982.3:c.913A>T, XM_011521982.2:c.913A>T, XM_011521982.1:c.913A>T, XM_011521983.4:c.913A>T, XM_011521983.3:c.913A>T, XM_011521983.2:c.913A>T, XM_011521983.1:c.913A>T, XM_011521979.4:c.964A>T, XM_011521979.3:c.964A>T, XM_011521979.2:c.964A>T, XM_011521979.1:c.964A>T, NM_001105192.3:c.1126A>T, NM_001105192.2:c.1126A>T, NM_001105192.1:c.1126A>T, NM_020908.3:c.1099A>T, NM_020908.2:c.1099A>T, NM_020908.1:c.1099A>T, XM_011521981.3:c.1165A>T, XM_011521981.2:c.1165A>T, XM_011521981.1:c.1165A>T, XM_017022532.3:c.1165A>T, XM_017022532.2:c.1165A>T, XM_017022532.1:c.1165A>T, NM_001282980.2:c.1135A>T, NM_001282980.1:c.1135A>T, NM_001282979.2:c.1126A>T, NM_001282979.1:c.1126A>T, NM_001282981.2:c.1105A>T, NM_001282981.1:c.1105A>T, NM_001282982.2:c.931A>T, NM_001282982.1:c.931A>T, XM_047432992.1:c.904A>T, XM_047432993.1:c.904A>T, XP_005254679.1:p.Met386Leu, XP_005254680.1:p.Met386Leu, XP_005254682.1:p.Met377Leu, XP_005254685.1:p.Met377Leu, XP_006720728.1:p.Met375Leu, XP_011520278.1:p.Met389Leu, XP_011520279.1:p.Met388Leu, XP_011520280.1:p.Met389Leu, NP_005069.2:p.Met379Leu, XP_011520282.1:p.Met378Leu, XP_005254690.1:p.Met367Leu, XP_011520284.1:p.Met305Leu, XP_011520285.1:p.Met305Leu, XP_011520281.1:p.Met322Leu, NP_001098662.1:p.Met376Leu, NP_065959.1:p.Met367Leu, XP_011520283.1:p.Met389Leu, XP_016878021.1:p.Met389Leu, NP_001269909.1:p.Met379Leu, NP_001269908.1:p.Met376Leu, NP_001269910.1:p.Met369Leu, NP_001269911.1:p.Met311Leu, XP_047288948.1:p.Met302Leu, XP_047288949.1:p.Met302Leu

                8.

                rs1475689868 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:70095597 (GRCh38)
                  15:70387936 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:70095596:A:G
                  Gene:
                  TLE3 (Varview)
                  Functional Consequence:
                  initiator_codon_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                  HGVS:
                  NC_000015.10:g.70095597A>G, NC_000015.9:g.70387936A>G, XM_005254622.6:c.170T>C, XM_005254622.5:c.170T>C, XM_005254622.4:c.170T>C, XM_005254622.3:c.170T>C, XM_005254622.2:c.170T>C, XM_005254622.1:c.170T>C, XM_005254623.5:c.170T>C, XM_005254623.4:c.170T>C, XM_005254623.3:c.170T>C, XM_005254623.2:c.170T>C, XM_005254623.1:c.170T>C, XM_005254625.5:c.170T>C, XM_005254625.4:c.170T>C, XM_005254625.3:c.170T>C, XM_005254625.2:c.170T>C, XM_005254625.1:c.170T>C, XM_005254628.5:c.170T>C, XM_005254628.4:c.170T>C, XM_005254628.3:c.170T>C, XM_005254628.2:c.170T>C, XM_005254628.1:c.170T>C, XM_006720665.5:c.170T>C, XM_006720665.4:c.170T>C, XM_006720665.3:c.170T>C, XM_006720665.2:c.170T>C, XM_006720665.1:c.170T>C, XM_011521976.4:c.170T>C, XM_011521976.3:c.170T>C, XM_011521976.2:c.170T>C, XM_011521976.1:c.170T>C, XM_011521977.4:c.170T>C, XM_011521977.3:c.170T>C, XM_011521977.2:c.170T>C, XM_011521977.1:c.170T>C, XM_011521978.4:c.170T>C, XM_011521978.3:c.170T>C, XM_011521978.2:c.170T>C, XM_011521978.1:c.170T>C, NM_005078.4:c.170T>C, NM_005078.3:c.170T>C, NM_005078.2:c.170T>C, XM_011521980.4:c.170T>C, XM_011521980.3:c.170T>C, XM_011521980.2:c.170T>C, XM_011521980.1:c.170T>C, XM_005254633.4:c.170T>C, XM_005254633.3:c.170T>C, XM_005254633.2:c.170T>C, XM_005254633.1:c.170T>C, XM_011521982.4:c.170T>C, XM_011521982.3:c.170T>C, XM_011521982.2:c.170T>C, XM_011521982.1:c.170T>C, XM_011521983.4:c.170T>C, XM_011521983.3:c.170T>C, XM_011521983.2:c.170T>C, XM_011521983.1:c.170T>C, XM_011521979.4:c.2T>C, XM_011521979.3:c.2T>C, XM_011521979.2:c.2T>C, XM_011521979.1:c.2T>C, NM_001105192.3:c.170T>C, NM_001105192.2:c.170T>C, NM_001105192.1:c.170T>C, NM_020908.3:c.170T>C, NM_020908.2:c.170T>C, NM_020908.1:c.170T>C, XM_011521981.3:c.170T>C, XM_011521981.2:c.170T>C, XM_011521981.1:c.170T>C, XM_017022532.3:c.170T>C, XM_017022532.2:c.170T>C, XM_017022532.1:c.170T>C, NM_001282980.2:c.170T>C, NM_001282980.1:c.170T>C, NM_001282979.2:c.170T>C, NM_001282979.1:c.170T>C, NM_001282981.2:c.149T>C, NM_001282981.1:c.149T>C, XM_047432992.1:c.170T>C, XM_047432993.1:c.170T>C, XP_005254679.1:p.Met57Thr, XP_005254680.1:p.Met57Thr, XP_005254682.1:p.Met57Thr, XP_005254685.1:p.Met57Thr, XP_006720728.1:p.Met57Thr, XP_011520278.1:p.Met57Thr, XP_011520279.1:p.Met57Thr, XP_011520280.1:p.Met57Thr, NP_005069.2:p.Met57Thr, XP_011520282.1:p.Met57Thr, XP_005254690.1:p.Met57Thr, XP_011520284.1:p.Met57Thr, XP_011520285.1:p.Met57Thr, XP_011520281.1:p.Met1Thr, NP_001098662.1:p.Met57Thr, NP_065959.1:p.Met57Thr, XP_011520283.1:p.Met57Thr, XP_016878021.1:p.Met57Thr, NP_001269909.1:p.Met57Thr, NP_001269908.1:p.Met57Thr, NP_001269910.1:p.Met50Thr, XP_047288948.1:p.Met57Thr, XP_047288949.1:p.Met57Thr

                  9.

                  rs1470249047 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    15:70057614 (GRCh38)
                    15:70349953 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:70057613:C:A
                    Gene:
                    TLE3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000015.10:g.70057614C>A, NC_000015.9:g.70349953C>A, XM_005254622.6:c.1126G>T, XM_005254622.5:c.1126G>T, XM_005254622.4:c.1126G>T, XM_005254622.3:c.1126G>T, XM_005254622.2:c.1126G>T, XM_005254622.1:c.1126G>T, XM_005254623.5:c.1126G>T, XM_005254623.4:c.1126G>T, XM_005254623.3:c.1126G>T, XM_005254623.2:c.1126G>T, XM_005254623.1:c.1126G>T, XM_005254625.5:c.1099G>T, XM_005254625.4:c.1099G>T, XM_005254625.3:c.1099G>T, XM_005254625.2:c.1099G>T, XM_005254625.1:c.1099G>T, XM_005254628.5:c.1099G>T, XM_005254628.4:c.1099G>T, XM_005254628.3:c.1099G>T, XM_005254628.2:c.1099G>T, XM_005254628.1:c.1099G>T, XM_006720665.5:c.1093G>T, XM_006720665.4:c.1093G>T, XM_006720665.3:c.1093G>T, XM_006720665.2:c.1093G>T, XM_006720665.1:c.1093G>T, XM_011521976.4:c.1135G>T, XM_011521976.3:c.1135G>T, XM_011521976.2:c.1135G>T, XM_011521976.1:c.1135G>T, XM_011521977.4:c.1132G>T, XM_011521977.3:c.1132G>T, XM_011521977.2:c.1132G>T, XM_011521977.1:c.1132G>T, XM_011521978.4:c.1135G>T, XM_011521978.3:c.1135G>T, XM_011521978.2:c.1135G>T, XM_011521978.1:c.1135G>T, NM_005078.4:c.1105G>T, NM_005078.3:c.1105G>T, NM_005078.2:c.1105G>T, XM_011521980.4:c.1102G>T, XM_011521980.3:c.1102G>T, XM_011521980.2:c.1102G>T, XM_011521980.1:c.1102G>T, XM_005254633.4:c.1069G>T, XM_005254633.3:c.1069G>T, XM_005254633.2:c.1069G>T, XM_005254633.1:c.1069G>T, XM_011521982.4:c.883G>T, XM_011521982.3:c.883G>T, XM_011521982.2:c.883G>T, XM_011521982.1:c.883G>T, XM_011521983.4:c.883G>T, XM_011521983.3:c.883G>T, XM_011521983.2:c.883G>T, XM_011521983.1:c.883G>T, XM_011521979.4:c.934G>T, XM_011521979.3:c.934G>T, XM_011521979.2:c.934G>T, XM_011521979.1:c.934G>T, NM_001105192.3:c.1096G>T, NM_001105192.2:c.1096G>T, NM_001105192.1:c.1096G>T, NM_020908.3:c.1069G>T, NM_020908.2:c.1069G>T, NM_020908.1:c.1069G>T, XM_011521981.3:c.1135G>T, XM_011521981.2:c.1135G>T, XM_011521981.1:c.1135G>T, XM_017022532.3:c.1135G>T, XM_017022532.2:c.1135G>T, XM_017022532.1:c.1135G>T, NM_001282980.2:c.1105G>T, NM_001282980.1:c.1105G>T, NM_001282979.2:c.1096G>T, NM_001282979.1:c.1096G>T, NM_001282981.2:c.1075G>T, NM_001282981.1:c.1075G>T, NM_001282982.2:c.901G>T, NM_001282982.1:c.901G>T, XM_047432992.1:c.874G>T, XM_047432993.1:c.874G>T, XP_005254679.1:p.Ala376Ser, XP_005254680.1:p.Ala376Ser, XP_005254682.1:p.Ala367Ser, XP_005254685.1:p.Ala367Ser, XP_006720728.1:p.Ala365Ser, XP_011520278.1:p.Ala379Ser, XP_011520279.1:p.Ala378Ser, XP_011520280.1:p.Ala379Ser, NP_005069.2:p.Ala369Ser, XP_011520282.1:p.Ala368Ser, XP_005254690.1:p.Ala357Ser, XP_011520284.1:p.Ala295Ser, XP_011520285.1:p.Ala295Ser, XP_011520281.1:p.Ala312Ser, NP_001098662.1:p.Ala366Ser, NP_065959.1:p.Ala357Ser, XP_011520283.1:p.Ala379Ser, XP_016878021.1:p.Ala379Ser, NP_001269909.1:p.Ala369Ser, NP_001269908.1:p.Ala366Ser, NP_001269910.1:p.Ala359Ser, NP_001269911.1:p.Ala301Ser, XP_047288948.1:p.Ala292Ser, XP_047288949.1:p.Ala292Ser

                    10.

                    rs1468636884 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:70053350 (GRCh38)
                      15:70345689 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:70053349:C:T
                      Gene:
                      TLE3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.70053350C>T, NC_000015.9:g.70345689C>T, XM_005254622.6:c.1881G>A, XM_005254622.5:c.1881G>A, XM_005254622.4:c.1881G>A, XM_005254622.3:c.1881G>A, XM_005254622.2:c.1881G>A, XM_005254622.1:c.1881G>A, XM_005254623.5:c.1866G>A, XM_005254623.4:c.1866G>A, XM_005254623.3:c.1866G>A, XM_005254623.2:c.1866G>A, XM_005254623.1:c.1866G>A, XM_005254625.5:c.1854G>A, XM_005254625.4:c.1854G>A, XM_005254625.3:c.1854G>A, XM_005254625.2:c.1854G>A, XM_005254625.1:c.1854G>A, XM_005254628.5:c.1839G>A, XM_005254628.4:c.1839G>A, XM_005254628.3:c.1839G>A, XM_005254628.2:c.1839G>A, XM_005254628.1:c.1839G>A, XM_006720665.5:c.1833G>A, XM_006720665.4:c.1833G>A, XM_006720665.3:c.1833G>A, XM_006720665.2:c.1833G>A, XM_006720665.1:c.1833G>A, XM_011521976.4:c.1890G>A, XM_011521976.3:c.1890G>A, XM_011521976.2:c.1890G>A, XM_011521976.1:c.1890G>A, XM_011521977.4:c.1887G>A, XM_011521977.3:c.1887G>A, XM_011521977.2:c.1887G>A, XM_011521977.1:c.1887G>A, XM_011521978.4:c.1875G>A, XM_011521978.3:c.1875G>A, XM_011521978.2:c.1875G>A, XM_011521978.1:c.1875G>A, NM_005078.4:c.1860G>A, NM_005078.3:c.1860G>A, NM_005078.2:c.1860G>A, XM_011521980.4:c.1857G>A, XM_011521980.3:c.1857G>A, XM_011521980.2:c.1857G>A, XM_011521980.1:c.1857G>A, XM_005254633.4:c.1809G>A, XM_005254633.3:c.1809G>A, XM_005254633.2:c.1809G>A, XM_005254633.1:c.1809G>A, XM_011521982.4:c.1638G>A, XM_011521982.3:c.1638G>A, XM_011521982.2:c.1638G>A, XM_011521982.1:c.1638G>A, XM_011521983.4:c.1623G>A, XM_011521983.3:c.1623G>A, XM_011521983.2:c.1623G>A, XM_011521983.1:c.1623G>A, XM_011521979.4:c.1674G>A, XM_011521979.3:c.1674G>A, XM_011521979.2:c.1674G>A, XM_011521979.1:c.1674G>A, NM_001105192.3:c.1851G>A, NM_001105192.2:c.1851G>A, NM_001105192.1:c.1851G>A, NM_020908.3:c.1824G>A, NM_020908.2:c.1824G>A, NM_020908.1:c.1824G>A, XM_011521981.3:c.1890G>A, XM_011521981.2:c.1890G>A, XM_011521981.1:c.1890G>A, XM_017022532.3:c.1642G>A, XM_017022532.2:c.1642G>A, XM_017022532.1:c.1642G>A, NM_001282980.2:c.1845G>A, NM_001282980.1:c.1845G>A, NM_001282979.2:c.1836G>A, NM_001282979.1:c.1836G>A, NM_001282981.2:c.1830G>A, NM_001282981.1:c.1830G>A, NM_001282982.2:c.1641G>A, NM_001282982.1:c.1641G>A, XM_047432992.1:c.1629G>A, XM_047432993.1:c.1614G>A, XP_016878021.1:p.Gly548Ser

                      11.

                      rs1468341174 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:70053335 (GRCh38)
                        15:70345674 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:70053334:G:A
                        Gene:
                        TLE3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000015.10:g.70053335G>A, NC_000015.9:g.70345674G>A, XM_005254622.6:c.1896C>T, XM_005254622.5:c.1896C>T, XM_005254622.4:c.1896C>T, XM_005254622.3:c.1896C>T, XM_005254622.2:c.1896C>T, XM_005254622.1:c.1896C>T, XM_005254623.5:c.1881C>T, XM_005254623.4:c.1881C>T, XM_005254623.3:c.1881C>T, XM_005254623.2:c.1881C>T, XM_005254623.1:c.1881C>T, XM_005254625.5:c.1869C>T, XM_005254625.4:c.1869C>T, XM_005254625.3:c.1869C>T, XM_005254625.2:c.1869C>T, XM_005254625.1:c.1869C>T, XM_005254628.5:c.1854C>T, XM_005254628.4:c.1854C>T, XM_005254628.3:c.1854C>T, XM_005254628.2:c.1854C>T, XM_005254628.1:c.1854C>T, XM_006720665.5:c.1848C>T, XM_006720665.4:c.1848C>T, XM_006720665.3:c.1848C>T, XM_006720665.2:c.1848C>T, XM_006720665.1:c.1848C>T, XM_011521976.4:c.1905C>T, XM_011521976.3:c.1905C>T, XM_011521976.2:c.1905C>T, XM_011521976.1:c.1905C>T, XM_011521977.4:c.1902C>T, XM_011521977.3:c.1902C>T, XM_011521977.2:c.1902C>T, XM_011521977.1:c.1902C>T, XM_011521978.4:c.1890C>T, XM_011521978.3:c.1890C>T, XM_011521978.2:c.1890C>T, XM_011521978.1:c.1890C>T, NM_005078.4:c.1875C>T, NM_005078.3:c.1875C>T, NM_005078.2:c.1875C>T, XM_011521980.4:c.1872C>T, XM_011521980.3:c.1872C>T, XM_011521980.2:c.1872C>T, XM_011521980.1:c.1872C>T, XM_005254633.4:c.1824C>T, XM_005254633.3:c.1824C>T, XM_005254633.2:c.1824C>T, XM_005254633.1:c.1824C>T, XM_011521982.4:c.1653C>T, XM_011521982.3:c.1653C>T, XM_011521982.2:c.1653C>T, XM_011521982.1:c.1653C>T, XM_011521983.4:c.1638C>T, XM_011521983.3:c.1638C>T, XM_011521983.2:c.1638C>T, XM_011521983.1:c.1638C>T, XM_011521979.4:c.1689C>T, XM_011521979.3:c.1689C>T, XM_011521979.2:c.1689C>T, XM_011521979.1:c.1689C>T, NM_001105192.3:c.1866C>T, NM_001105192.2:c.1866C>T, NM_001105192.1:c.1866C>T, NM_020908.3:c.1839C>T, NM_020908.2:c.1839C>T, NM_020908.1:c.1839C>T, XM_011521981.3:c.1905C>T, XM_011521981.2:c.1905C>T, XM_011521981.1:c.1905C>T, XM_017022532.3:c.1657C>T, XM_017022532.2:c.1657C>T, XM_017022532.1:c.1657C>T, NM_001282980.2:c.1860C>T, NM_001282980.1:c.1860C>T, NM_001282979.2:c.1851C>T, NM_001282979.1:c.1851C>T, NM_001282981.2:c.1845C>T, NM_001282981.1:c.1845C>T, NM_001282982.2:c.1656C>T, NM_001282982.1:c.1656C>T, XM_047432992.1:c.1644C>T, XM_047432993.1:c.1629C>T, XP_016878021.1:p.His553Tyr

                        12.

                        rs1468087824 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          15:70055237 (GRCh38)
                          15:70347576 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:70055236:C:T
                          Gene:
                          TLE3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.70055237C>T, NC_000015.9:g.70347576C>T, XM_005254622.6:c.1420G>A, XM_005254622.5:c.1420G>A, XM_005254622.4:c.1420G>A, XM_005254622.3:c.1420G>A, XM_005254622.2:c.1420G>A, XM_005254622.1:c.1420G>A, XM_005254623.5:c.1405G>A, XM_005254623.4:c.1405G>A, XM_005254623.3:c.1405G>A, XM_005254623.2:c.1405G>A, XM_005254623.1:c.1405G>A, XM_005254625.5:c.1393G>A, XM_005254625.4:c.1393G>A, XM_005254625.3:c.1393G>A, XM_005254625.2:c.1393G>A, XM_005254625.1:c.1393G>A, XM_005254628.5:c.1378G>A, XM_005254628.4:c.1378G>A, XM_005254628.3:c.1378G>A, XM_005254628.2:c.1378G>A, XM_005254628.1:c.1378G>A, XM_006720665.5:c.1372G>A, XM_006720665.4:c.1372G>A, XM_006720665.3:c.1372G>A, XM_006720665.2:c.1372G>A, XM_006720665.1:c.1372G>A, XM_011521976.4:c.1429G>A, XM_011521976.3:c.1429G>A, XM_011521976.2:c.1429G>A, XM_011521976.1:c.1429G>A, XM_011521977.4:c.1426G>A, XM_011521977.3:c.1426G>A, XM_011521977.2:c.1426G>A, XM_011521977.1:c.1426G>A, XM_011521978.4:c.1414G>A, XM_011521978.3:c.1414G>A, XM_011521978.2:c.1414G>A, XM_011521978.1:c.1414G>A, NM_005078.4:c.1399G>A, NM_005078.3:c.1399G>A, NM_005078.2:c.1399G>A, XM_011521980.4:c.1396G>A, XM_011521980.3:c.1396G>A, XM_011521980.2:c.1396G>A, XM_011521980.1:c.1396G>A, XM_005254633.4:c.1348G>A, XM_005254633.3:c.1348G>A, XM_005254633.2:c.1348G>A, XM_005254633.1:c.1348G>A, XM_011521982.4:c.1177G>A, XM_011521982.3:c.1177G>A, XM_011521982.2:c.1177G>A, XM_011521982.1:c.1177G>A, XM_011521983.4:c.1162G>A, XM_011521983.3:c.1162G>A, XM_011521983.2:c.1162G>A, XM_011521983.1:c.1162G>A, XM_011521979.4:c.1213G>A, XM_011521979.3:c.1213G>A, XM_011521979.2:c.1213G>A, XM_011521979.1:c.1213G>A, NM_001105192.3:c.1390G>A, NM_001105192.2:c.1390G>A, NM_001105192.1:c.1390G>A, NM_020908.3:c.1363G>A, NM_020908.2:c.1363G>A, NM_020908.1:c.1363G>A, XM_011521981.3:c.1429G>A, XM_011521981.2:c.1429G>A, XM_011521981.1:c.1429G>A, XM_017022532.3:c.1429G>A, XM_017022532.2:c.1429G>A, XM_017022532.1:c.1429G>A, NM_001282980.2:c.1384G>A, NM_001282980.1:c.1384G>A, NM_001282979.2:c.1375G>A, NM_001282979.1:c.1375G>A, NM_001282981.2:c.1369G>A, NM_001282981.1:c.1369G>A, NM_001282982.2:c.1180G>A, NM_001282982.1:c.1180G>A, XM_047432992.1:c.1168G>A, XM_047432993.1:c.1153G>A, XP_005254679.1:p.Ala474Thr, XP_005254680.1:p.Ala469Thr, XP_005254682.1:p.Ala465Thr, XP_005254685.1:p.Ala460Thr, XP_006720728.1:p.Ala458Thr, XP_011520278.1:p.Ala477Thr, XP_011520279.1:p.Ala476Thr, XP_011520280.1:p.Ala472Thr, NP_005069.2:p.Ala467Thr, XP_011520282.1:p.Ala466Thr, XP_005254690.1:p.Ala450Thr, XP_011520284.1:p.Ala393Thr, XP_011520285.1:p.Ala388Thr, XP_011520281.1:p.Ala405Thr, NP_001098662.1:p.Ala464Thr, NP_065959.1:p.Ala455Thr, XP_011520283.1:p.Ala477Thr, XP_016878021.1:p.Ala477Thr, NP_001269909.1:p.Ala462Thr, NP_001269908.1:p.Ala459Thr, NP_001269910.1:p.Ala457Thr, NP_001269911.1:p.Ala394Thr, XP_047288948.1:p.Ala390Thr, XP_047288949.1:p.Ala385Thr

                          13.

                          rs1467535125 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:70052444 (GRCh38)
                            15:70344783 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:70052443:G:A
                            Gene:
                            TLE3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000015.10:g.70052444G>A, NC_000015.9:g.70344783G>A, XM_005254622.6:c.2085C>T, XM_005254622.5:c.2085C>T, XM_005254622.4:c.2085C>T, XM_005254622.3:c.2085C>T, XM_005254622.2:c.2085C>T, XM_005254622.1:c.2085C>T, XM_005254623.5:c.2070C>T, XM_005254623.4:c.2070C>T, XM_005254623.3:c.2070C>T, XM_005254623.2:c.2070C>T, XM_005254623.1:c.2070C>T, XM_005254625.5:c.2058C>T, XM_005254625.4:c.2058C>T, XM_005254625.3:c.2058C>T, XM_005254625.2:c.2058C>T, XM_005254625.1:c.2058C>T, XM_005254628.5:c.2043C>T, XM_005254628.4:c.2043C>T, XM_005254628.3:c.2043C>T, XM_005254628.2:c.2043C>T, XM_005254628.1:c.2043C>T, XM_006720665.5:c.2037C>T, XM_006720665.4:c.2037C>T, XM_006720665.3:c.2037C>T, XM_006720665.2:c.2037C>T, XM_006720665.1:c.2037C>T, XM_011521976.4:c.2094C>T, XM_011521976.3:c.2094C>T, XM_011521976.2:c.2094C>T, XM_011521976.1:c.2094C>T, XM_011521977.4:c.2091C>T, XM_011521977.3:c.2091C>T, XM_011521977.2:c.2091C>T, XM_011521977.1:c.2091C>T, XM_011521978.4:c.2079C>T, XM_011521978.3:c.2079C>T, XM_011521978.2:c.2079C>T, XM_011521978.1:c.2079C>T, NM_005078.4:c.2064C>T, NM_005078.3:c.2064C>T, NM_005078.2:c.2064C>T, XM_011521980.4:c.2061C>T, XM_011521980.3:c.2061C>T, XM_011521980.2:c.2061C>T, XM_011521980.1:c.2061C>T, XM_005254633.4:c.2013C>T, XM_005254633.3:c.2013C>T, XM_005254633.2:c.2013C>T, XM_005254633.1:c.2013C>T, XM_011521982.4:c.1842C>T, XM_011521982.3:c.1842C>T, XM_011521982.2:c.1842C>T, XM_011521982.1:c.1842C>T, XM_011521983.4:c.1827C>T, XM_011521983.3:c.1827C>T, XM_011521983.2:c.1827C>T, XM_011521983.1:c.1827C>T, XM_011521979.4:c.1878C>T, XM_011521979.3:c.1878C>T, XM_011521979.2:c.1878C>T, XM_011521979.1:c.1878C>T, NM_001105192.3:c.2055C>T, NM_001105192.2:c.2055C>T, NM_001105192.1:c.2055C>T, NM_020908.3:c.2028C>T, NM_020908.2:c.2028C>T, NM_020908.1:c.2028C>T, XM_011521981.3:c.2094C>T, XM_011521981.2:c.2094C>T, XM_011521981.1:c.2094C>T, NM_001282980.2:c.2049C>T, NM_001282980.1:c.2049C>T, NM_001282979.2:c.2040C>T, NM_001282979.1:c.2040C>T, NM_001282981.2:c.2034C>T, NM_001282981.1:c.2034C>T, NM_001282982.2:c.1845C>T, NM_001282982.1:c.1845C>T, XM_047432992.1:c.1833C>T, XM_047432993.1:c.1818C>T

                            14.

                            rs1465835571 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:70055255 (GRCh38)
                              15:70347594 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:70055254:C:T
                              Gene:
                              TLE3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000015.10:g.70055255C>T, NC_000015.9:g.70347594C>T, XM_005254622.6:c.1402G>A, XM_005254622.5:c.1402G>A, XM_005254622.4:c.1402G>A, XM_005254622.3:c.1402G>A, XM_005254622.2:c.1402G>A, XM_005254622.1:c.1402G>A, XM_005254623.5:c.1387G>A, XM_005254623.4:c.1387G>A, XM_005254623.3:c.1387G>A, XM_005254623.2:c.1387G>A, XM_005254623.1:c.1387G>A, XM_005254625.5:c.1375G>A, XM_005254625.4:c.1375G>A, XM_005254625.3:c.1375G>A, XM_005254625.2:c.1375G>A, XM_005254625.1:c.1375G>A, XM_005254628.5:c.1360G>A, XM_005254628.4:c.1360G>A, XM_005254628.3:c.1360G>A, XM_005254628.2:c.1360G>A, XM_005254628.1:c.1360G>A, XM_006720665.5:c.1354G>A, XM_006720665.4:c.1354G>A, XM_006720665.3:c.1354G>A, XM_006720665.2:c.1354G>A, XM_006720665.1:c.1354G>A, XM_011521976.4:c.1411G>A, XM_011521976.3:c.1411G>A, XM_011521976.2:c.1411G>A, XM_011521976.1:c.1411G>A, XM_011521977.4:c.1408G>A, XM_011521977.3:c.1408G>A, XM_011521977.2:c.1408G>A, XM_011521977.1:c.1408G>A, XM_011521978.4:c.1396G>A, XM_011521978.3:c.1396G>A, XM_011521978.2:c.1396G>A, XM_011521978.1:c.1396G>A, NM_005078.4:c.1381G>A, NM_005078.3:c.1381G>A, NM_005078.2:c.1381G>A, XM_011521980.4:c.1378G>A, XM_011521980.3:c.1378G>A, XM_011521980.2:c.1378G>A, XM_011521980.1:c.1378G>A, XM_005254633.4:c.1330G>A, XM_005254633.3:c.1330G>A, XM_005254633.2:c.1330G>A, XM_005254633.1:c.1330G>A, XM_011521982.4:c.1159G>A, XM_011521982.3:c.1159G>A, XM_011521982.2:c.1159G>A, XM_011521982.1:c.1159G>A, XM_011521983.4:c.1144G>A, XM_011521983.3:c.1144G>A, XM_011521983.2:c.1144G>A, XM_011521983.1:c.1144G>A, XM_011521979.4:c.1195G>A, XM_011521979.3:c.1195G>A, XM_011521979.2:c.1195G>A, XM_011521979.1:c.1195G>A, NM_001105192.3:c.1372G>A, NM_001105192.2:c.1372G>A, NM_001105192.1:c.1372G>A, NM_020908.3:c.1345G>A, NM_020908.2:c.1345G>A, NM_020908.1:c.1345G>A, XM_011521981.3:c.1411G>A, XM_011521981.2:c.1411G>A, XM_011521981.1:c.1411G>A, XM_017022532.3:c.1411G>A, XM_017022532.2:c.1411G>A, XM_017022532.1:c.1411G>A, NM_001282980.2:c.1366G>A, NM_001282980.1:c.1366G>A, NM_001282979.2:c.1357G>A, NM_001282979.1:c.1357G>A, NM_001282981.2:c.1351G>A, NM_001282981.1:c.1351G>A, NM_001282982.2:c.1162G>A, NM_001282982.1:c.1162G>A, XM_047432992.1:c.1150G>A, XM_047432993.1:c.1135G>A, XP_005254679.1:p.Val468Met, XP_005254680.1:p.Val463Met, XP_005254682.1:p.Val459Met, XP_005254685.1:p.Val454Met, XP_006720728.1:p.Val452Met, XP_011520278.1:p.Val471Met, XP_011520279.1:p.Val470Met, XP_011520280.1:p.Val466Met, NP_005069.2:p.Val461Met, XP_011520282.1:p.Val460Met, XP_005254690.1:p.Val444Met, XP_011520284.1:p.Val387Met, XP_011520285.1:p.Val382Met, XP_011520281.1:p.Val399Met, NP_001098662.1:p.Val458Met, NP_065959.1:p.Val449Met, XP_011520283.1:p.Val471Met, XP_016878021.1:p.Val471Met, NP_001269909.1:p.Val456Met, NP_001269908.1:p.Val453Met, NP_001269910.1:p.Val451Met, NP_001269911.1:p.Val388Met, XP_047288948.1:p.Val384Met, XP_047288949.1:p.Val379Met

                              15.

                              rs1464586730 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                15:70095614 (GRCh38)
                                15:70387953 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:70095613:T:C
                                Gene:
                                TLE3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000006/1 (GnomAD_exomes)
                                HGVS:
                                NC_000015.10:g.70095614T>C, NC_000015.9:g.70387953T>C, XM_005254622.6:c.153A>G, XM_005254622.5:c.153A>G, XM_005254622.4:c.153A>G, XM_005254622.3:c.153A>G, XM_005254622.2:c.153A>G, XM_005254622.1:c.153A>G, XM_005254623.5:c.153A>G, XM_005254623.4:c.153A>G, XM_005254623.3:c.153A>G, XM_005254623.2:c.153A>G, XM_005254623.1:c.153A>G, XM_005254625.5:c.153A>G, XM_005254625.4:c.153A>G, XM_005254625.3:c.153A>G, XM_005254625.2:c.153A>G, XM_005254625.1:c.153A>G, XM_005254628.5:c.153A>G, XM_005254628.4:c.153A>G, XM_005254628.3:c.153A>G, XM_005254628.2:c.153A>G, XM_005254628.1:c.153A>G, XM_006720665.5:c.153A>G, XM_006720665.4:c.153A>G, XM_006720665.3:c.153A>G, XM_006720665.2:c.153A>G, XM_006720665.1:c.153A>G, XM_011521976.4:c.153A>G, XM_011521976.3:c.153A>G, XM_011521976.2:c.153A>G, XM_011521976.1:c.153A>G, XM_011521977.4:c.153A>G, XM_011521977.3:c.153A>G, XM_011521977.2:c.153A>G, XM_011521977.1:c.153A>G, XM_011521978.4:c.153A>G, XM_011521978.3:c.153A>G, XM_011521978.2:c.153A>G, XM_011521978.1:c.153A>G, NM_005078.4:c.153A>G, NM_005078.3:c.153A>G, NM_005078.2:c.153A>G, XM_011521980.4:c.153A>G, XM_011521980.3:c.153A>G, XM_011521980.2:c.153A>G, XM_011521980.1:c.153A>G, XM_005254633.4:c.153A>G, XM_005254633.3:c.153A>G, XM_005254633.2:c.153A>G, XM_005254633.1:c.153A>G, XM_011521982.4:c.153A>G, XM_011521982.3:c.153A>G, XM_011521982.2:c.153A>G, XM_011521982.1:c.153A>G, XM_011521983.4:c.153A>G, XM_011521983.3:c.153A>G, XM_011521983.2:c.153A>G, XM_011521983.1:c.153A>G, XM_011521979.4:c.-16A>G, XM_011521979.3:c.-16A>G, XM_011521979.2:c.-16A>G, XM_011521979.1:c.-16A>G, NM_001105192.3:c.153A>G, NM_001105192.2:c.153A>G, NM_001105192.1:c.153A>G, NM_020908.3:c.153A>G, NM_020908.2:c.153A>G, NM_020908.1:c.153A>G, XM_011521981.3:c.153A>G, XM_011521981.2:c.153A>G, XM_011521981.1:c.153A>G, XM_017022532.3:c.153A>G, XM_017022532.2:c.153A>G, XM_017022532.1:c.153A>G, NM_001282980.2:c.153A>G, NM_001282980.1:c.153A>G, NM_001282979.2:c.153A>G, NM_001282979.1:c.153A>G, NM_001282981.2:c.132A>G, NM_001282981.1:c.132A>G, XM_047432992.1:c.153A>G, XM_047432993.1:c.153A>G

                                16.

                                rs1461079293 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:70076124 (GRCh38)
                                  15:70368463 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:70076123:G:A
                                  Gene:
                                  TLE3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000015.10:g.70076124G>A, NC_000015.9:g.70368463G>A, XM_005254622.6:c.269C>T, XM_005254622.5:c.269C>T, XM_005254622.4:c.269C>T, XM_005254622.3:c.269C>T, XM_005254622.2:c.269C>T, XM_005254622.1:c.269C>T, XM_005254623.5:c.269C>T, XM_005254623.4:c.269C>T, XM_005254623.3:c.269C>T, XM_005254623.2:c.269C>T, XM_005254623.1:c.269C>T, XM_005254625.5:c.269C>T, XM_005254625.4:c.269C>T, XM_005254625.3:c.269C>T, XM_005254625.2:c.269C>T, XM_005254625.1:c.269C>T, XM_005254628.5:c.269C>T, XM_005254628.4:c.269C>T, XM_005254628.3:c.269C>T, XM_005254628.2:c.269C>T, XM_005254628.1:c.269C>T, XM_006720665.5:c.269C>T, XM_006720665.4:c.269C>T, XM_006720665.3:c.269C>T, XM_006720665.2:c.269C>T, XM_006720665.1:c.269C>T, XM_011521976.4:c.269C>T, XM_011521976.3:c.269C>T, XM_011521976.2:c.269C>T, XM_011521976.1:c.269C>T, XM_011521977.4:c.269C>T, XM_011521977.3:c.269C>T, XM_011521977.2:c.269C>T, XM_011521977.1:c.269C>T, XM_011521978.4:c.269C>T, XM_011521978.3:c.269C>T, XM_011521978.2:c.269C>T, XM_011521978.1:c.269C>T, NM_005078.4:c.269C>T, NM_005078.3:c.269C>T, NM_005078.2:c.269C>T, XM_011521980.4:c.269C>T, XM_011521980.3:c.269C>T, XM_011521980.2:c.269C>T, XM_011521980.1:c.269C>T, XM_005254633.4:c.269C>T, XM_005254633.3:c.269C>T, XM_005254633.2:c.269C>T, XM_005254633.1:c.269C>T, XM_011521982.4:c.269C>T, XM_011521982.3:c.269C>T, XM_011521982.2:c.269C>T, XM_011521982.1:c.269C>T, XM_011521983.4:c.269C>T, XM_011521983.3:c.269C>T, XM_011521983.2:c.269C>T, XM_011521983.1:c.269C>T, XM_011521979.4:c.101C>T, XM_011521979.3:c.101C>T, XM_011521979.2:c.101C>T, XM_011521979.1:c.101C>T, NM_001105192.3:c.269C>T, NM_001105192.2:c.269C>T, NM_001105192.1:c.269C>T, NM_020908.3:c.269C>T, NM_020908.2:c.269C>T, NM_020908.1:c.269C>T, XM_011521981.3:c.269C>T, XM_011521981.2:c.269C>T, XM_011521981.1:c.269C>T, XM_017022532.3:c.269C>T, XM_017022532.2:c.269C>T, XM_017022532.1:c.269C>T, NM_001282980.2:c.269C>T, NM_001282980.1:c.269C>T, NM_001282979.2:c.269C>T, NM_001282979.1:c.269C>T, NM_001282981.2:c.248C>T, NM_001282981.1:c.248C>T, NM_001282982.2:c.71C>T, NM_001282982.1:c.71C>T, XM_047432992.1:c.269C>T, XM_047432993.1:c.269C>T, XP_005254679.1:p.Ala90Val, XP_005254680.1:p.Ala90Val, XP_005254682.1:p.Ala90Val, XP_005254685.1:p.Ala90Val, XP_006720728.1:p.Ala90Val, XP_011520278.1:p.Ala90Val, XP_011520279.1:p.Ala90Val, XP_011520280.1:p.Ala90Val, NP_005069.2:p.Ala90Val, XP_011520282.1:p.Ala90Val, XP_005254690.1:p.Ala90Val, XP_011520284.1:p.Ala90Val, XP_011520285.1:p.Ala90Val, XP_011520281.1:p.Ala34Val, NP_001098662.1:p.Ala90Val, NP_065959.1:p.Ala90Val, XP_011520283.1:p.Ala90Val, XP_016878021.1:p.Ala90Val, NP_001269909.1:p.Ala90Val, NP_001269908.1:p.Ala90Val, NP_001269910.1:p.Ala83Val, NP_001269911.1:p.Ala24Val, XP_047288948.1:p.Ala90Val, XP_047288949.1:p.Ala90Val

                                  17.

                                  rs1460251237 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    15:70054683 (GRCh38)
                                    15:70347022 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:70054682:G:A,NC_000015.10:70054682:G:T
                                    Gene:
                                    TLE3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    NC_000015.10:g.70054683G>A, NC_000015.10:g.70054683G>T, NC_000015.9:g.70347022G>A, NC_000015.9:g.70347022G>T, XM_005254622.6:c.1611C>T, XM_005254622.6:c.1611C>A, XM_005254622.5:c.1611C>T, XM_005254622.5:c.1611C>A, XM_005254622.4:c.1611C>T, XM_005254622.4:c.1611C>A, XM_005254622.3:c.1611C>T, XM_005254622.3:c.1611C>A, XM_005254622.2:c.1611C>T, XM_005254622.2:c.1611C>A, XM_005254622.1:c.1611C>T, XM_005254622.1:c.1611C>A, XM_005254623.5:c.1596C>T, XM_005254623.5:c.1596C>A, XM_005254623.4:c.1596C>T, XM_005254623.4:c.1596C>A, XM_005254623.3:c.1596C>T, XM_005254623.3:c.1596C>A, XM_005254623.2:c.1596C>T, XM_005254623.2:c.1596C>A, XM_005254623.1:c.1596C>T, XM_005254623.1:c.1596C>A, XM_005254625.5:c.1584C>T, XM_005254625.5:c.1584C>A, XM_005254625.4:c.1584C>T, XM_005254625.4:c.1584C>A, XM_005254625.3:c.1584C>T, XM_005254625.3:c.1584C>A, XM_005254625.2:c.1584C>T, XM_005254625.2:c.1584C>A, XM_005254625.1:c.1584C>T, XM_005254625.1:c.1584C>A, XM_005254628.5:c.1569C>T, XM_005254628.5:c.1569C>A, XM_005254628.4:c.1569C>T, XM_005254628.4:c.1569C>A, XM_005254628.3:c.1569C>T, XM_005254628.3:c.1569C>A, XM_005254628.2:c.1569C>T, XM_005254628.2:c.1569C>A, XM_005254628.1:c.1569C>T, XM_005254628.1:c.1569C>A, XM_006720665.5:c.1563C>T, XM_006720665.5:c.1563C>A, XM_006720665.4:c.1563C>T, XM_006720665.4:c.1563C>A, XM_006720665.3:c.1563C>T, XM_006720665.3:c.1563C>A, XM_006720665.2:c.1563C>T, XM_006720665.2:c.1563C>A, XM_006720665.1:c.1563C>T, XM_006720665.1:c.1563C>A, XM_011521976.4:c.1620C>T, XM_011521976.4:c.1620C>A, XM_011521976.3:c.1620C>T, XM_011521976.3:c.1620C>A, XM_011521976.2:c.1620C>T, XM_011521976.2:c.1620C>A, XM_011521976.1:c.1620C>T, XM_011521976.1:c.1620C>A, XM_011521977.4:c.1617C>T, XM_011521977.4:c.1617C>A, XM_011521977.3:c.1617C>T, XM_011521977.3:c.1617C>A, XM_011521977.2:c.1617C>T, XM_011521977.2:c.1617C>A, XM_011521977.1:c.1617C>T, XM_011521977.1:c.1617C>A, XM_011521978.4:c.1605C>T, XM_011521978.4:c.1605C>A, XM_011521978.3:c.1605C>T, XM_011521978.3:c.1605C>A, XM_011521978.2:c.1605C>T, XM_011521978.2:c.1605C>A, XM_011521978.1:c.1605C>T, XM_011521978.1:c.1605C>A, NM_005078.4:c.1590C>T, NM_005078.4:c.1590C>A, NM_005078.3:c.1590C>T, NM_005078.3:c.1590C>A, NM_005078.2:c.1590C>T, NM_005078.2:c.1590C>A, XM_011521980.4:c.1587C>T, XM_011521980.4:c.1587C>A, XM_011521980.3:c.1587C>T, XM_011521980.3:c.1587C>A, XM_011521980.2:c.1587C>T, XM_011521980.2:c.1587C>A, XM_011521980.1:c.1587C>T, XM_011521980.1:c.1587C>A, XM_005254633.4:c.1539C>T, XM_005254633.4:c.1539C>A, XM_005254633.3:c.1539C>T, XM_005254633.3:c.1539C>A, XM_005254633.2:c.1539C>T, XM_005254633.2:c.1539C>A, XM_005254633.1:c.1539C>T, XM_005254633.1:c.1539C>A, XM_011521982.4:c.1368C>T, XM_011521982.4:c.1368C>A, XM_011521982.3:c.1368C>T, XM_011521982.3:c.1368C>A, XM_011521982.2:c.1368C>T, XM_011521982.2:c.1368C>A, XM_011521982.1:c.1368C>T, XM_011521982.1:c.1368C>A, XM_011521983.4:c.1353C>T, XM_011521983.4:c.1353C>A, XM_011521983.3:c.1353C>T, XM_011521983.3:c.1353C>A, XM_011521983.2:c.1353C>T, XM_011521983.2:c.1353C>A, XM_011521983.1:c.1353C>T, XM_011521983.1:c.1353C>A, XM_011521979.4:c.1404C>T, XM_011521979.4:c.1404C>A, XM_011521979.3:c.1404C>T, XM_011521979.3:c.1404C>A, XM_011521979.2:c.1404C>T, XM_011521979.2:c.1404C>A, XM_011521979.1:c.1404C>T, XM_011521979.1:c.1404C>A, NM_001105192.3:c.1581C>T, NM_001105192.3:c.1581C>A, NM_001105192.2:c.1581C>T, NM_001105192.2:c.1581C>A, NM_001105192.1:c.1581C>T, NM_001105192.1:c.1581C>A, NM_020908.3:c.1554C>T, NM_020908.3:c.1554C>A, NM_020908.2:c.1554C>T, NM_020908.2:c.1554C>A, NM_020908.1:c.1554C>T, NM_020908.1:c.1554C>A, XM_011521981.3:c.1620C>T, XM_011521981.3:c.1620C>A, XM_011521981.2:c.1620C>T, XM_011521981.2:c.1620C>A, XM_011521981.1:c.1620C>T, XM_011521981.1:c.1620C>A, NM_001282980.2:c.1575C>T, NM_001282980.2:c.1575C>A, NM_001282980.1:c.1575C>T, NM_001282980.1:c.1575C>A, NM_001282979.2:c.1566C>T, NM_001282979.2:c.1566C>A, NM_001282979.1:c.1566C>T, NM_001282979.1:c.1566C>A, NM_001282981.2:c.1560C>T, NM_001282981.2:c.1560C>A, NM_001282981.1:c.1560C>T, NM_001282981.1:c.1560C>A, NM_001282982.2:c.1371C>T, NM_001282982.2:c.1371C>A, NM_001282982.1:c.1371C>T, NM_001282982.1:c.1371C>A, XM_047432992.1:c.1359C>T, XM_047432992.1:c.1359C>A, XM_047432993.1:c.1344C>T, XM_047432993.1:c.1344C>A, XP_005254679.1:p.Asn537Lys, XP_005254680.1:p.Asn532Lys, XP_005254682.1:p.Asn528Lys, XP_005254685.1:p.Asn523Lys, XP_006720728.1:p.Asn521Lys, XP_011520278.1:p.Asn540Lys, XP_011520279.1:p.Asn539Lys, XP_011520280.1:p.Asn535Lys, NP_005069.2:p.Asn530Lys, XP_011520282.1:p.Asn529Lys, XP_005254690.1:p.Asn513Lys, XP_011520284.1:p.Asn456Lys, XP_011520285.1:p.Asn451Lys, XP_011520281.1:p.Asn468Lys, NP_001098662.1:p.Asn527Lys, NP_065959.1:p.Asn518Lys, XP_011520283.1:p.Asn540Lys, NP_001269909.1:p.Asn525Lys, NP_001269908.1:p.Asn522Lys, NP_001269910.1:p.Asn520Lys, NP_001269911.1:p.Asn457Lys, XP_047288948.1:p.Asn453Lys, XP_047288949.1:p.Asn448Lys

                                    18.

                                    rs1458068822 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:70066173 (GRCh38)
                                      15:70358512 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:70066172:G:A
                                      Gene:
                                      TLE3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      HGVS:
                                      NC_000015.10:g.70066173G>A, NC_000015.9:g.70358512G>A, XM_005254622.6:c.448C>T, XM_005254622.5:c.448C>T, XM_005254622.4:c.448C>T, XM_005254622.3:c.448C>T, XM_005254622.2:c.448C>T, XM_005254622.1:c.448C>T, XM_005254623.5:c.448C>T, XM_005254623.4:c.448C>T, XM_005254623.3:c.448C>T, XM_005254623.2:c.448C>T, XM_005254623.1:c.448C>T, XM_005254625.5:c.448C>T, XM_005254625.4:c.448C>T, XM_005254625.3:c.448C>T, XM_005254625.2:c.448C>T, XM_005254625.1:c.448C>T, XM_005254628.5:c.448C>T, XM_005254628.4:c.448C>T, XM_005254628.3:c.448C>T, XM_005254628.2:c.448C>T, XM_005254628.1:c.448C>T, XM_006720665.5:c.415C>T, XM_006720665.4:c.415C>T, XM_006720665.3:c.415C>T, XM_006720665.2:c.415C>T, XM_006720665.1:c.415C>T, XM_011521976.4:c.448C>T, XM_011521976.3:c.448C>T, XM_011521976.2:c.448C>T, XM_011521976.1:c.448C>T, XM_011521977.4:c.445C>T, XM_011521977.3:c.445C>T, XM_011521977.2:c.445C>T, XM_011521977.1:c.445C>T, XM_011521978.4:c.448C>T, XM_011521978.3:c.448C>T, XM_011521978.2:c.448C>T, XM_011521978.1:c.448C>T, NM_005078.4:c.418C>T, NM_005078.3:c.418C>T, NM_005078.2:c.418C>T, XM_011521980.4:c.415C>T, XM_011521980.3:c.415C>T, XM_011521980.2:c.415C>T, XM_011521980.1:c.415C>T, XM_005254633.4:c.418C>T, XM_005254633.3:c.418C>T, XM_005254633.2:c.418C>T, XM_005254633.1:c.418C>T, XM_011521979.4:c.247C>T, XM_011521979.3:c.247C>T, XM_011521979.2:c.247C>T, XM_011521979.1:c.247C>T, NM_001105192.3:c.418C>T, NM_001105192.2:c.418C>T, NM_001105192.1:c.418C>T, NM_020908.3:c.418C>T, NM_020908.2:c.418C>T, NM_020908.1:c.418C>T, XM_011521981.3:c.448C>T, XM_011521981.2:c.448C>T, XM_011521981.1:c.448C>T, XM_017022532.3:c.448C>T, XM_017022532.2:c.448C>T, XM_017022532.1:c.448C>T, NM_001282980.2:c.418C>T, NM_001282980.1:c.418C>T, NM_001282979.2:c.418C>T, NM_001282979.1:c.418C>T, NM_001282981.2:c.397C>T, NM_001282981.1:c.397C>T, NM_001282982.2:c.250C>T, NM_001282982.1:c.250C>T, XP_005254679.1:p.Pro150Ser, XP_005254680.1:p.Pro150Ser, XP_005254682.1:p.Pro150Ser, XP_005254685.1:p.Pro150Ser, XP_006720728.1:p.Pro139Ser, XP_011520278.1:p.Pro150Ser, XP_011520279.1:p.Pro149Ser, XP_011520280.1:p.Pro150Ser, NP_005069.2:p.Pro140Ser, XP_011520282.1:p.Pro139Ser, XP_005254690.1:p.Pro140Ser, XP_011520281.1:p.Pro83Ser, NP_001098662.1:p.Pro140Ser, NP_065959.1:p.Pro140Ser, XP_011520283.1:p.Pro150Ser, XP_016878021.1:p.Pro150Ser, NP_001269909.1:p.Pro140Ser, NP_001269908.1:p.Pro140Ser, NP_001269910.1:p.Pro133Ser, NP_001269911.1:p.Pro84Ser

                                      19.

                                      rs1458050207 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:70052387 (GRCh38)
                                        15:70344726 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:70052386:C:T
                                        Gene:
                                        TLE3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.70052387C>T, NC_000015.9:g.70344726C>T, XM_005254622.6:c.2142G>A, XM_005254622.5:c.2142G>A, XM_005254622.4:c.2142G>A, XM_005254622.3:c.2142G>A, XM_005254622.2:c.2142G>A, XM_005254622.1:c.2142G>A, XM_005254623.5:c.2127G>A, XM_005254623.4:c.2127G>A, XM_005254623.3:c.2127G>A, XM_005254623.2:c.2127G>A, XM_005254623.1:c.2127G>A, XM_005254625.5:c.2115G>A, XM_005254625.4:c.2115G>A, XM_005254625.3:c.2115G>A, XM_005254625.2:c.2115G>A, XM_005254625.1:c.2115G>A, XM_005254628.5:c.2100G>A, XM_005254628.4:c.2100G>A, XM_005254628.3:c.2100G>A, XM_005254628.2:c.2100G>A, XM_005254628.1:c.2100G>A, XM_006720665.5:c.2094G>A, XM_006720665.4:c.2094G>A, XM_006720665.3:c.2094G>A, XM_006720665.2:c.2094G>A, XM_006720665.1:c.2094G>A, XM_011521976.4:c.2151G>A, XM_011521976.3:c.2151G>A, XM_011521976.2:c.2151G>A, XM_011521976.1:c.2151G>A, XM_011521977.4:c.2148G>A, XM_011521977.3:c.2148G>A, XM_011521977.2:c.2148G>A, XM_011521977.1:c.2148G>A, XM_011521978.4:c.2136G>A, XM_011521978.3:c.2136G>A, XM_011521978.2:c.2136G>A, XM_011521978.1:c.2136G>A, NM_005078.4:c.2121G>A, NM_005078.3:c.2121G>A, NM_005078.2:c.2121G>A, XM_011521980.4:c.2118G>A, XM_011521980.3:c.2118G>A, XM_011521980.2:c.2118G>A, XM_011521980.1:c.2118G>A, XM_005254633.4:c.2070G>A, XM_005254633.3:c.2070G>A, XM_005254633.2:c.2070G>A, XM_005254633.1:c.2070G>A, XM_011521982.4:c.1899G>A, XM_011521982.3:c.1899G>A, XM_011521982.2:c.1899G>A, XM_011521982.1:c.1899G>A, XM_011521983.4:c.1884G>A, XM_011521983.3:c.1884G>A, XM_011521983.2:c.1884G>A, XM_011521983.1:c.1884G>A, XM_011521979.4:c.1935G>A, XM_011521979.3:c.1935G>A, XM_011521979.2:c.1935G>A, XM_011521979.1:c.1935G>A, NM_001105192.3:c.2112G>A, NM_001105192.2:c.2112G>A, NM_001105192.1:c.2112G>A, NM_020908.3:c.2085G>A, NM_020908.2:c.2085G>A, NM_020908.1:c.2085G>A, XM_011521981.3:c.2151G>A, XM_011521981.2:c.2151G>A, XM_011521981.1:c.2151G>A, NM_001282980.2:c.2106G>A, NM_001282980.1:c.2106G>A, NM_001282979.2:c.2097G>A, NM_001282979.1:c.2097G>A, NM_001282981.2:c.2091G>A, NM_001282981.1:c.2091G>A, NM_001282982.2:c.1902G>A, NM_001282982.1:c.1902G>A, XM_047432992.1:c.1890G>A, XM_047432993.1:c.1875G>A

                                        20.

                                        rs1455516621 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GAGGG [Show Flanks]
                                          Chromosome:
                                          15:70060629 (GRCh38)
                                          15:70352969 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:70060629:GAGGG:GAGGGGAGGG
                                          Gene:
                                          TLE3 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GAGGGGAGGG=0./0 (ALFA)
                                          HGVS:
                                          NC_000015.10:g.70060630_70060634dup, NC_000015.9:g.70352969_70352973dup, XM_005254622.6:c.640_644dup, XM_005254622.5:c.640_644dup, XM_005254622.4:c.640_644dup, XM_005254622.3:c.640_644dup, XM_005254622.2:c.640_644dup, XM_005254622.1:c.640_644dup, XM_005254623.5:c.640_644dup, XM_005254623.4:c.640_644dup, XM_005254623.3:c.640_644dup, XM_005254623.2:c.640_644dup, XM_005254623.1:c.640_644dup, XM_005254625.5:c.640_644dup, XM_005254625.4:c.640_644dup, XM_005254625.3:c.640_644dup, XM_005254625.2:c.640_644dup, XM_005254625.1:c.640_644dup, XM_005254628.5:c.640_644dup, XM_005254628.4:c.640_644dup, XM_005254628.3:c.640_644dup, XM_005254628.2:c.640_644dup, XM_005254628.1:c.640_644dup, XM_006720665.5:c.607_611dup, XM_006720665.4:c.607_611dup, XM_006720665.3:c.607_611dup, XM_006720665.2:c.607_611dup, XM_006720665.1:c.607_611dup, XM_011521976.4:c.640_644dup, XM_011521976.3:c.640_644dup, XM_011521976.2:c.640_644dup, XM_011521976.1:c.640_644dup, XM_011521977.4:c.637_641dup, XM_011521977.3:c.637_641dup, XM_011521977.2:c.637_641dup, XM_011521977.1:c.637_641dup, XM_011521978.4:c.640_644dup, XM_011521978.3:c.640_644dup, XM_011521978.2:c.640_644dup, XM_011521978.1:c.640_644dup, NM_005078.4:c.610_614dup, NM_005078.3:c.610_614dup, NM_005078.2:c.610_614dup, XM_011521980.4:c.607_611dup, XM_011521980.3:c.607_611dup, XM_011521980.2:c.607_611dup, XM_011521980.1:c.607_611dup, XM_005254633.4:c.610_614dup, XM_005254633.3:c.610_614dup, XM_005254633.2:c.610_614dup, XM_005254633.1:c.610_614dup, XM_011521982.4:c.388_392dup, XM_011521982.3:c.388_392dup, XM_011521982.2:c.388_392dup, XM_011521982.1:c.388_392dup, XM_011521983.4:c.388_392dup, XM_011521983.3:c.388_392dup, XM_011521983.2:c.388_392dup, XM_011521983.1:c.388_392dup, XM_011521979.4:c.439_443dup, XM_011521979.3:c.439_443dup, XM_011521979.2:c.439_443dup, XM_011521979.1:c.439_443dup, NM_001105192.3:c.610_614dup, NM_001105192.2:c.610_614dup, NM_001105192.1:c.610_614dup, NM_020908.3:c.610_614dup, NM_020908.2:c.610_614dup, NM_020908.1:c.610_614dup, XM_011521981.3:c.640_644dup, XM_011521981.2:c.640_644dup, XM_011521981.1:c.640_644dup, XM_017022532.3:c.640_644dup, XM_017022532.2:c.640_644dup, XM_017022532.1:c.640_644dup, NM_001282980.2:c.610_614dup, NM_001282980.1:c.610_614dup, NM_001282979.2:c.610_614dup, NM_001282979.1:c.610_614dup, NM_001282981.2:c.589_593dup, NM_001282981.1:c.589_593dup, NM_001282982.2:c.442_446dup, NM_001282982.1:c.442_446dup, XM_047432992.1:c.388_392dup, XM_047432993.1:c.388_392dup, XP_005254679.1:p.Glu216fs, XP_005254680.1:p.Glu216fs, XP_005254682.1:p.Glu216fs, XP_005254685.1:p.Glu216fs, XP_006720728.1:p.Glu205fs, XP_011520278.1:p.Glu216fs, XP_011520279.1:p.Glu215fs, XP_011520280.1:p.Glu216fs, NP_005069.2:p.Glu206fs, XP_011520282.1:p.Glu205fs, XP_005254690.1:p.Glu206fs, XP_011520284.1:p.Glu132fs, XP_011520285.1:p.Glu132fs, XP_011520281.1:p.Glu149fs, NP_001098662.1:p.Glu206fs, NP_065959.1:p.Glu206fs, XP_011520283.1:p.Glu216fs, XP_016878021.1:p.Glu216fs, NP_001269909.1:p.Glu206fs, NP_001269908.1:p.Glu206fs, NP_001269910.1:p.Glu199fs, NP_001269911.1:p.Glu150fs, XP_047288948.1:p.Glu132fs, XP_047288949.1:p.Glu132fs

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