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Items: 1 to 20 of 662

1.

rs1487618553 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    9:81593154 (GRCh38)
    9:84208069 (GRCh37)
    Canonical SPDI:
    NC_000009.12:81593153:C:G
    Gene:
    TLE1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.81593154C>G, NC_000009.11:g.84208069C>G, NM_005077.5:c.1452G>C, NM_005077.4:c.1452G>C, NM_005077.3:c.1452G>C, XM_006717259.5:c.1416G>C, XM_006717259.4:c.1416G>C, XM_006717259.3:c.1416G>C, XM_006717259.2:c.1416G>C, XM_006717259.1:c.1416G>C, XM_005252156.4:c.1479G>C, XM_005252156.3:c.1479G>C, XM_005252156.2:c.1479G>C, XM_005252156.1:c.1479G>C, XM_011518951.3:c.1449G>C, XM_011518951.2:c.1449G>C, XM_011518951.1:c.1449G>C, XM_005252163.3:c.1230G>C, XM_005252163.2:c.1230G>C, XM_005252163.1:c.1230G>C, XM_006717261.3:c.1239G>C, XM_006717261.2:c.1239G>C, XM_006717261.1:c.1239G>C, XM_005252151.2:c.1584G>C, XM_005252151.1:c.1584G>C, XM_006717258.2:c.1581G>C, XM_006717258.1:c.1581G>C, XM_005252152.2:c.1581G>C, XM_005252152.1:c.1581G>C, XM_005252153.2:c.1554G>C, XM_005252153.1:c.1554G>C, XM_005252154.2:c.1551G>C, XM_005252154.1:c.1551G>C, NM_001303103.2:c.1482G>C, NM_001303103.1:c.1482G>C, XM_006717262.2:c.1449G>C, XM_006717262.1:c.1449G>C, XM_006717263.2:c.1446G>C, XM_006717263.1:c.1446G>C, NM_001303104.2:c.1407G>C, NM_001303104.1:c.1407G>C, XM_006717260.2:c.1362G>C, XM_006717260.1:c.1362G>C, XM_005252162.2:c.1332G>C, XM_005252162.1:c.1332G>C, XM_047423813.1:c.1359G>C, XM_047423814.1:c.1329G>C, XM_047423815.1:c.1260G>C, XM_047423816.1:c.1257G>C, XM_047423817.1:c.1227G>C, XM_047423818.1:c.996G>C

    2.

    rs1485917444 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:81593099 (GRCh38)
      9:84208014 (GRCh37)
      Canonical SPDI:
      NC_000009.12:81593098:C:T
      Gene:
      TLE1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.81593099C>T, NC_000009.11:g.84208014C>T, NM_005077.5:c.1507G>A, NM_005077.4:c.1507G>A, NM_005077.3:c.1507G>A, XM_006717259.5:c.1471G>A, XM_006717259.4:c.1471G>A, XM_006717259.3:c.1471G>A, XM_006717259.2:c.1471G>A, XM_006717259.1:c.1471G>A, XM_005252156.4:c.1534G>A, XM_005252156.3:c.1534G>A, XM_005252156.2:c.1534G>A, XM_005252156.1:c.1534G>A, XM_011518951.3:c.1504G>A, XM_011518951.2:c.1504G>A, XM_011518951.1:c.1504G>A, XM_005252163.3:c.1285G>A, XM_005252163.2:c.1285G>A, XM_005252163.1:c.1285G>A, XM_006717261.3:c.1294G>A, XM_006717261.2:c.1294G>A, XM_006717261.1:c.1294G>A, XM_005252151.2:c.1639G>A, XM_005252151.1:c.1639G>A, XM_006717258.2:c.1636G>A, XM_006717258.1:c.1636G>A, XM_005252152.2:c.1636G>A, XM_005252152.1:c.1636G>A, XM_005252153.2:c.1609G>A, XM_005252153.1:c.1609G>A, XM_005252154.2:c.1606G>A, XM_005252154.1:c.1606G>A, NM_001303103.2:c.1537G>A, NM_001303103.1:c.1537G>A, XM_006717262.2:c.1504G>A, XM_006717262.1:c.1504G>A, XM_006717263.2:c.1501G>A, XM_006717263.1:c.1501G>A, NM_001303104.2:c.1462G>A, NM_001303104.1:c.1462G>A, XM_006717260.2:c.1417G>A, XM_006717260.1:c.1417G>A, XM_005252162.2:c.1387G>A, XM_005252162.1:c.1387G>A, XM_047423813.1:c.1414G>A, XM_047423814.1:c.1384G>A, XM_047423815.1:c.1315G>A, XM_047423816.1:c.1312G>A, XM_047423817.1:c.1282G>A, XM_047423818.1:c.1051G>A, NP_005068.2:p.Gly503Arg, XP_006717322.1:p.Gly491Arg, XP_005252213.1:p.Gly512Arg, XP_011517253.1:p.Gly502Arg, XP_005252220.1:p.Gly429Arg, XP_006717324.1:p.Gly432Arg, XP_005252208.1:p.Gly547Arg, XP_006717321.1:p.Gly546Arg, XP_005252209.1:p.Gly546Arg, XP_005252210.1:p.Gly537Arg, XP_005252211.1:p.Gly536Arg, NP_001290032.1:p.Gly513Arg, XP_006717325.1:p.Gly502Arg, XP_006717326.1:p.Gly501Arg, NP_001290033.1:p.Gly488Arg, XP_006717323.1:p.Gly473Arg, XP_005252219.1:p.Gly463Arg, XP_047279769.1:p.Gly472Arg, XP_047279770.1:p.Gly462Arg, XP_047279771.1:p.Gly439Arg, XP_047279772.1:p.Gly438Arg, XP_047279773.1:p.Gly428Arg, XP_047279774.1:p.Gly351Arg

      3.

      rs1485500365 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        9:81616117 (GRCh38)
        9:84231032 (GRCh37)
        Canonical SPDI:
        NC_000009.12:81616116:T:A
        Gene:
        TLE1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.81616117T>A, NC_000009.11:g.84231032T>A, NM_005077.5:c.783A>T, NM_005077.4:c.783A>T, NM_005077.3:c.783A>T, XM_006717259.5:c.645A>T, XM_006717259.4:c.645A>T, XM_006717259.3:c.645A>T, XM_006717259.2:c.645A>T, XM_006717259.1:c.645A>T, XM_005252156.4:c.813A>T, XM_005252156.3:c.813A>T, XM_005252156.2:c.813A>T, XM_005252156.1:c.813A>T, XM_011518951.3:c.780A>T, XM_011518951.2:c.780A>T, XM_011518951.1:c.780A>T, XM_005252163.3:c.561A>T, XM_005252163.2:c.561A>T, XM_005252163.1:c.561A>T, XM_006717261.3:c.468A>T, XM_006717261.2:c.468A>T, XM_006717261.1:c.468A>T, XM_005252151.2:c.813A>T, XM_005252151.1:c.813A>T, XM_006717258.2:c.810A>T, XM_006717258.1:c.810A>T, XM_005252152.2:c.813A>T, XM_005252152.1:c.813A>T, XM_005252153.2:c.783A>T, XM_005252153.1:c.783A>T, XM_005252154.2:c.780A>T, XM_005252154.1:c.780A>T, NM_001303103.2:c.813A>T, NM_001303103.1:c.813A>T, XM_006717262.2:c.783A>T, XM_006717262.1:c.783A>T, XM_006717263.2:c.780A>T, XM_006717263.1:c.780A>T, NM_001303104.2:c.783A>T, NM_001303104.1:c.783A>T, XM_006717260.2:c.591A>T, XM_006717260.1:c.591A>T, XM_005252162.2:c.561A>T, XM_005252162.1:c.561A>T, XM_047423813.1:c.591A>T, XM_047423814.1:c.561A>T, XM_047423815.1:c.591A>T, XM_047423816.1:c.591A>T, XM_047423817.1:c.561A>T, XM_047423818.1:c.225A>T

        4.

        rs1484967793 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          9:81584462 (GRCh38)
          9:84199377 (GRCh37)
          Canonical SPDI:
          NC_000009.12:81584461:C:A
          Gene:
          TLE1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000009.12:g.81584462C>A, NC_000009.11:g.84199377C>A, NM_005077.5:c.2191G>T, NM_005077.4:c.2191G>T, NM_005077.3:c.2191G>T, XM_006717259.5:c.2155G>T, XM_006717259.4:c.2155G>T, XM_006717259.3:c.2155G>T, XM_006717259.2:c.2155G>T, XM_006717259.1:c.2155G>T, XM_005252156.4:c.2218G>T, XM_005252156.3:c.2218G>T, XM_005252156.2:c.2218G>T, XM_005252156.1:c.2218G>T, XM_011518951.3:c.2188G>T, XM_011518951.2:c.2188G>T, XM_011518951.1:c.2188G>T, XM_005252163.3:c.1969G>T, XM_005252163.2:c.1969G>T, XM_005252163.1:c.1969G>T, XM_006717261.3:c.1978G>T, XM_006717261.2:c.1978G>T, XM_006717261.1:c.1978G>T, XM_005252151.2:c.2323G>T, XM_005252151.1:c.2323G>T, XM_006717258.2:c.2320G>T, XM_006717258.1:c.2320G>T, XM_005252152.2:c.2320G>T, XM_005252152.1:c.2320G>T, XM_005252153.2:c.2293G>T, XM_005252153.1:c.2293G>T, XM_005252154.2:c.2290G>T, XM_005252154.1:c.2290G>T, NM_001303103.2:c.2221G>T, NM_001303103.1:c.2221G>T, XM_006717262.2:c.2188G>T, XM_006717262.1:c.2188G>T, XM_006717263.2:c.2185G>T, XM_006717263.1:c.2185G>T, NM_001303104.2:c.2146G>T, NM_001303104.1:c.2146G>T, XM_006717260.2:c.2101G>T, XM_006717260.1:c.2101G>T, XM_005252162.2:c.2071G>T, XM_005252162.1:c.2071G>T, XM_047423813.1:c.2098G>T, XM_047423814.1:c.2068G>T, XM_047423815.1:c.1999G>T, XM_047423816.1:c.1996G>T, XM_047423817.1:c.1966G>T, XM_047423818.1:c.1735G>T, NP_005068.2:p.Ala731Ser, XP_006717322.1:p.Ala719Ser, XP_005252213.1:p.Ala740Ser, XP_011517253.1:p.Ala730Ser, XP_005252220.1:p.Ala657Ser, XP_006717324.1:p.Ala660Ser, XP_005252208.1:p.Ala775Ser, XP_006717321.1:p.Ala774Ser, XP_005252209.1:p.Ala774Ser, XP_005252210.1:p.Ala765Ser, XP_005252211.1:p.Ala764Ser, NP_001290032.1:p.Ala741Ser, XP_006717325.1:p.Ala730Ser, XP_006717326.1:p.Ala729Ser, NP_001290033.1:p.Ala716Ser, XP_006717323.1:p.Ala701Ser, XP_005252219.1:p.Ala691Ser, XP_047279769.1:p.Ala700Ser, XP_047279770.1:p.Ala690Ser, XP_047279771.1:p.Ala667Ser, XP_047279772.1:p.Ala666Ser, XP_047279773.1:p.Ala656Ser, XP_047279774.1:p.Ala579Ser

          5.

          rs1484372062 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            9:81611772 (GRCh38)
            9:84226687 (GRCh37)
            Canonical SPDI:
            NC_000009.12:81611771:G:T
            Gene:
            TLE1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000009.12:g.81611772G>T, NC_000009.11:g.84226687G>T, NM_005077.5:c.1251C>A, NM_005077.4:c.1251C>A, NM_005077.3:c.1251C>A, XM_006717259.5:c.1215C>A, XM_006717259.4:c.1215C>A, XM_006717259.3:c.1215C>A, XM_006717259.2:c.1215C>A, XM_006717259.1:c.1215C>A, XM_005252156.4:c.1278C>A, XM_005252156.3:c.1278C>A, XM_005252156.2:c.1278C>A, XM_005252156.1:c.1278C>A, XM_011518951.3:c.1248C>A, XM_011518951.2:c.1248C>A, XM_011518951.1:c.1248C>A, XM_005252163.3:c.1029C>A, XM_005252163.2:c.1029C>A, XM_005252163.1:c.1029C>A, XM_006717261.3:c.1038C>A, XM_006717261.2:c.1038C>A, XM_006717261.1:c.1038C>A, XM_005252151.2:c.1383C>A, XM_005252151.1:c.1383C>A, XM_006717258.2:c.1380C>A, XM_006717258.1:c.1380C>A, XM_005252152.2:c.1380C>A, XM_005252152.1:c.1380C>A, XM_005252153.2:c.1353C>A, XM_005252153.1:c.1353C>A, XM_005252154.2:c.1350C>A, XM_005252154.1:c.1350C>A, NM_001303103.2:c.1281C>A, NM_001303103.1:c.1281C>A, XM_006717262.2:c.1248C>A, XM_006717262.1:c.1248C>A, XM_006717263.2:c.1245C>A, XM_006717263.1:c.1245C>A, NM_001303104.2:c.1206C>A, NM_001303104.1:c.1206C>A, XM_006717260.2:c.1161C>A, XM_006717260.1:c.1161C>A, XM_005252162.2:c.1131C>A, XM_005252162.1:c.1131C>A, XM_047423813.1:c.1158C>A, XM_047423814.1:c.1128C>A, XM_047423815.1:c.1059C>A, XM_047423816.1:c.1056C>A, XM_047423817.1:c.1026C>A, XM_047423818.1:c.795C>A

            6.

            rs1483963023 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:81593184 (GRCh38)
              9:84208099 (GRCh37)
              Canonical SPDI:
              NC_000009.12:81593183:A:G
              Gene:
              TLE1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000045/2 (ALFA)
              G=0.000008/2 (GnomAD_exomes)
              G=0.000014/2 (GnomAD)
              HGVS:
              NC_000009.12:g.81593184A>G, NC_000009.11:g.84208099A>G, NM_005077.5:c.1422T>C, NM_005077.4:c.1422T>C, NM_005077.3:c.1422T>C, XM_006717259.5:c.1386T>C, XM_006717259.4:c.1386T>C, XM_006717259.3:c.1386T>C, XM_006717259.2:c.1386T>C, XM_006717259.1:c.1386T>C, XM_005252156.4:c.1449T>C, XM_005252156.3:c.1449T>C, XM_005252156.2:c.1449T>C, XM_005252156.1:c.1449T>C, XM_011518951.3:c.1419T>C, XM_011518951.2:c.1419T>C, XM_011518951.1:c.1419T>C, XM_005252163.3:c.1200T>C, XM_005252163.2:c.1200T>C, XM_005252163.1:c.1200T>C, XM_006717261.3:c.1209T>C, XM_006717261.2:c.1209T>C, XM_006717261.1:c.1209T>C, XM_005252151.2:c.1554T>C, XM_005252151.1:c.1554T>C, XM_006717258.2:c.1551T>C, XM_006717258.1:c.1551T>C, XM_005252152.2:c.1551T>C, XM_005252152.1:c.1551T>C, XM_005252153.2:c.1524T>C, XM_005252153.1:c.1524T>C, XM_005252154.2:c.1521T>C, XM_005252154.1:c.1521T>C, NM_001303103.2:c.1452T>C, NM_001303103.1:c.1452T>C, XM_006717262.2:c.1419T>C, XM_006717262.1:c.1419T>C, XM_006717263.2:c.1416T>C, XM_006717263.1:c.1416T>C, NM_001303104.2:c.1377T>C, NM_001303104.1:c.1377T>C, XM_006717260.2:c.1332T>C, XM_006717260.1:c.1332T>C, XM_005252162.2:c.1302T>C, XM_005252162.1:c.1302T>C, XM_047423813.1:c.1329T>C, XM_047423814.1:c.1299T>C, XM_047423815.1:c.1230T>C, XM_047423816.1:c.1227T>C, XM_047423817.1:c.1197T>C, XM_047423818.1:c.966T>C

              7.

              rs1483442769 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                9:81611869 (GRCh38)
                9:84226784 (GRCh37)
                Canonical SPDI:
                NC_000009.12:81611868:G:A,NC_000009.12:81611868:G:C
                Gene:
                TLE1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000005/1 (GnomAD_exomes)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.81611869G>A, NC_000009.12:g.81611869G>C, NC_000009.11:g.84226784G>A, NC_000009.11:g.84226784G>C, NM_005077.5:c.1154C>T, NM_005077.5:c.1154C>G, NM_005077.4:c.1154C>T, NM_005077.4:c.1154C>G, NM_005077.3:c.1154C>T, NM_005077.3:c.1154C>G, XM_006717259.5:c.1118C>T, XM_006717259.5:c.1118C>G, XM_006717259.4:c.1118C>T, XM_006717259.4:c.1118C>G, XM_006717259.3:c.1118C>T, XM_006717259.3:c.1118C>G, XM_006717259.2:c.1118C>T, XM_006717259.2:c.1118C>G, XM_006717259.1:c.1118C>T, XM_006717259.1:c.1118C>G, XM_005252156.4:c.1181C>T, XM_005252156.4:c.1181C>G, XM_005252156.3:c.1181C>T, XM_005252156.3:c.1181C>G, XM_005252156.2:c.1181C>T, XM_005252156.2:c.1181C>G, XM_005252156.1:c.1181C>T, XM_005252156.1:c.1181C>G, XM_011518951.3:c.1151C>T, XM_011518951.3:c.1151C>G, XM_011518951.2:c.1151C>T, XM_011518951.2:c.1151C>G, XM_011518951.1:c.1151C>T, XM_011518951.1:c.1151C>G, XM_005252163.3:c.932C>T, XM_005252163.3:c.932C>G, XM_005252163.2:c.932C>T, XM_005252163.2:c.932C>G, XM_005252163.1:c.932C>T, XM_005252163.1:c.932C>G, XM_006717261.3:c.941C>T, XM_006717261.3:c.941C>G, XM_006717261.2:c.941C>T, XM_006717261.2:c.941C>G, XM_006717261.1:c.941C>T, XM_006717261.1:c.941C>G, XM_005252151.2:c.1286C>T, XM_005252151.2:c.1286C>G, XM_005252151.1:c.1286C>T, XM_005252151.1:c.1286C>G, XM_006717258.2:c.1283C>T, XM_006717258.2:c.1283C>G, XM_006717258.1:c.1283C>T, XM_006717258.1:c.1283C>G, XM_005252152.2:c.1283C>T, XM_005252152.2:c.1283C>G, XM_005252152.1:c.1283C>T, XM_005252152.1:c.1283C>G, XM_005252153.2:c.1256C>T, XM_005252153.2:c.1256C>G, XM_005252153.1:c.1256C>T, XM_005252153.1:c.1256C>G, XM_005252154.2:c.1253C>T, XM_005252154.2:c.1253C>G, XM_005252154.1:c.1253C>T, XM_005252154.1:c.1253C>G, NM_001303103.2:c.1184C>T, NM_001303103.2:c.1184C>G, NM_001303103.1:c.1184C>T, NM_001303103.1:c.1184C>G, XM_006717262.2:c.1151C>T, XM_006717262.2:c.1151C>G, XM_006717262.1:c.1151C>T, XM_006717262.1:c.1151C>G, XM_006717263.2:c.1148C>T, XM_006717263.2:c.1148C>G, XM_006717263.1:c.1148C>T, XM_006717263.1:c.1148C>G, NM_001303104.2:c.1109C>T, NM_001303104.2:c.1109C>G, NM_001303104.1:c.1109C>T, NM_001303104.1:c.1109C>G, XM_006717260.2:c.1064C>T, XM_006717260.2:c.1064C>G, XM_006717260.1:c.1064C>T, XM_006717260.1:c.1064C>G, XM_005252162.2:c.1034C>T, XM_005252162.2:c.1034C>G, XM_005252162.1:c.1034C>T, XM_005252162.1:c.1034C>G, XM_047423813.1:c.1061C>T, XM_047423813.1:c.1061C>G, XM_047423814.1:c.1031C>T, XM_047423814.1:c.1031C>G, XM_047423815.1:c.962C>T, XM_047423815.1:c.962C>G, XM_047423816.1:c.959C>T, XM_047423816.1:c.959C>G, XM_047423817.1:c.929C>T, XM_047423817.1:c.929C>G, XM_047423818.1:c.698C>T, XM_047423818.1:c.698C>G, NP_005068.2:p.Thr385Ile, NP_005068.2:p.Thr385Ser, XP_006717322.1:p.Thr373Ile, XP_006717322.1:p.Thr373Ser, XP_005252213.1:p.Thr394Ile, XP_005252213.1:p.Thr394Ser, XP_011517253.1:p.Thr384Ile, XP_011517253.1:p.Thr384Ser, XP_005252220.1:p.Thr311Ile, XP_005252220.1:p.Thr311Ser, XP_006717324.1:p.Thr314Ile, XP_006717324.1:p.Thr314Ser, XP_005252208.1:p.Thr429Ile, XP_005252208.1:p.Thr429Ser, XP_006717321.1:p.Thr428Ile, XP_006717321.1:p.Thr428Ser, XP_005252209.1:p.Thr428Ile, XP_005252209.1:p.Thr428Ser, XP_005252210.1:p.Thr419Ile, XP_005252210.1:p.Thr419Ser, XP_005252211.1:p.Thr418Ile, XP_005252211.1:p.Thr418Ser, NP_001290032.1:p.Thr395Ile, NP_001290032.1:p.Thr395Ser, XP_006717325.1:p.Thr384Ile, XP_006717325.1:p.Thr384Ser, XP_006717326.1:p.Thr383Ile, XP_006717326.1:p.Thr383Ser, NP_001290033.1:p.Thr370Ile, NP_001290033.1:p.Thr370Ser, XP_006717323.1:p.Thr355Ile, XP_006717323.1:p.Thr355Ser, XP_005252219.1:p.Thr345Ile, XP_005252219.1:p.Thr345Ser, XP_047279769.1:p.Thr354Ile, XP_047279769.1:p.Thr354Ser, XP_047279770.1:p.Thr344Ile, XP_047279770.1:p.Thr344Ser, XP_047279771.1:p.Thr321Ile, XP_047279771.1:p.Thr321Ser, XP_047279772.1:p.Thr320Ile, XP_047279772.1:p.Thr320Ser, XP_047279773.1:p.Thr310Ile, XP_047279773.1:p.Thr310Ser, XP_047279774.1:p.Thr233Ile, XP_047279774.1:p.Thr233Ser

                8.

                rs1480688189 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:81587721 (GRCh38)
                  9:84202636 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:81587720:C:T
                  Gene:
                  TLE1 (Varview), LOC105376106 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000009.12:g.81587721C>T, NC_000009.11:g.84202636C>T, NM_005077.5:c.1937G>A, NM_005077.4:c.1937G>A, NM_005077.3:c.1937G>A, XM_006717259.5:c.1901G>A, XM_006717259.4:c.1901G>A, XM_006717259.3:c.1901G>A, XM_006717259.2:c.1901G>A, XM_006717259.1:c.1901G>A, XM_005252156.4:c.1964G>A, XM_005252156.3:c.1964G>A, XM_005252156.2:c.1964G>A, XM_005252156.1:c.1964G>A, XM_011518951.3:c.1934G>A, XM_011518951.2:c.1934G>A, XM_011518951.1:c.1934G>A, XM_005252163.3:c.1715G>A, XM_005252163.2:c.1715G>A, XM_005252163.1:c.1715G>A, XM_006717261.3:c.1724G>A, XM_006717261.2:c.1724G>A, XM_006717261.1:c.1724G>A, XR_929992.3:n.47C>T, XR_929993.3:n.47C>T, XM_005252151.2:c.2069G>A, XM_005252151.1:c.2069G>A, XM_006717258.2:c.2066G>A, XM_006717258.1:c.2066G>A, XM_005252152.2:c.2066G>A, XM_005252152.1:c.2066G>A, XM_005252153.2:c.2039G>A, XM_005252153.1:c.2039G>A, XM_005252154.2:c.2036G>A, XM_005252154.1:c.2036G>A, NM_001303103.2:c.1967G>A, NM_001303103.1:c.1967G>A, XM_006717262.2:c.1934G>A, XM_006717262.1:c.1934G>A, XM_006717263.2:c.1931G>A, XM_006717263.1:c.1931G>A, NM_001303104.2:c.1892G>A, NM_001303104.1:c.1892G>A, XM_006717260.2:c.1847G>A, XM_006717260.1:c.1847G>A, XM_005252162.2:c.1817G>A, XM_005252162.1:c.1817G>A, XM_047423813.1:c.1844G>A, XM_047423814.1:c.1814G>A, XM_047423815.1:c.1745G>A, XM_047423816.1:c.1742G>A, XM_047423817.1:c.1712G>A, XM_047423818.1:c.1481G>A, NP_005068.2:p.Arg646His, XP_006717322.1:p.Arg634His, XP_005252213.1:p.Arg655His, XP_011517253.1:p.Arg645His, XP_005252220.1:p.Arg572His, XP_006717324.1:p.Arg575His, XP_005252208.1:p.Arg690His, XP_006717321.1:p.Arg689His, XP_005252209.1:p.Arg689His, XP_005252210.1:p.Arg680His, XP_005252211.1:p.Arg679His, NP_001290032.1:p.Arg656His, XP_006717325.1:p.Arg645His, XP_006717326.1:p.Arg644His, NP_001290033.1:p.Arg631His, XP_006717323.1:p.Arg616His, XP_005252219.1:p.Arg606His, XP_047279769.1:p.Arg615His, XP_047279770.1:p.Arg605His, XP_047279771.1:p.Arg582His, XP_047279772.1:p.Arg581His, XP_047279773.1:p.Arg571His, XP_047279774.1:p.Arg494His

                  9.

                  rs1479391311 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:81610269 (GRCh38)
                    9:84225184 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:81610268:T:C
                    Gene:
                    TLE1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000111/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.81610269T>C, NC_000009.11:g.84225184T>C, NM_005077.5:c.1282A>G, NM_005077.4:c.1282A>G, NM_005077.3:c.1282A>G, XM_006717259.5:c.1246A>G, XM_006717259.4:c.1246A>G, XM_006717259.3:c.1246A>G, XM_006717259.2:c.1246A>G, XM_006717259.1:c.1246A>G, XM_005252156.4:c.1309A>G, XM_005252156.3:c.1309A>G, XM_005252156.2:c.1309A>G, XM_005252156.1:c.1309A>G, XM_011518951.3:c.1279A>G, XM_011518951.2:c.1279A>G, XM_011518951.1:c.1279A>G, XM_005252163.3:c.1060A>G, XM_005252163.2:c.1060A>G, XM_005252163.1:c.1060A>G, XM_006717261.3:c.1069A>G, XM_006717261.2:c.1069A>G, XM_006717261.1:c.1069A>G, XM_005252151.2:c.1414A>G, XM_005252151.1:c.1414A>G, XM_006717258.2:c.1411A>G, XM_006717258.1:c.1411A>G, XM_005252152.2:c.1411A>G, XM_005252152.1:c.1411A>G, XM_005252153.2:c.1384A>G, XM_005252153.1:c.1384A>G, XM_005252154.2:c.1381A>G, XM_005252154.1:c.1381A>G, NM_001303103.2:c.1312A>G, NM_001303103.1:c.1312A>G, XM_006717262.2:c.1279A>G, XM_006717262.1:c.1279A>G, XM_006717263.2:c.1276A>G, XM_006717263.1:c.1276A>G, NM_001303104.2:c.1237A>G, NM_001303104.1:c.1237A>G, XM_006717260.2:c.1192A>G, XM_006717260.1:c.1192A>G, XM_005252162.2:c.1162A>G, XM_005252162.1:c.1162A>G, XM_047423813.1:c.1189A>G, XM_047423814.1:c.1159A>G, XM_047423815.1:c.1090A>G, XM_047423816.1:c.1087A>G, XM_047423817.1:c.1057A>G, XM_047423818.1:c.826A>G, NP_005068.2:p.Arg428Gly, XP_006717322.1:p.Arg416Gly, XP_005252213.1:p.Arg437Gly, XP_011517253.1:p.Arg427Gly, XP_005252220.1:p.Arg354Gly, XP_006717324.1:p.Arg357Gly, XP_005252208.1:p.Arg472Gly, XP_006717321.1:p.Arg471Gly, XP_005252209.1:p.Arg471Gly, XP_005252210.1:p.Arg462Gly, XP_005252211.1:p.Arg461Gly, NP_001290032.1:p.Arg438Gly, XP_006717325.1:p.Arg427Gly, XP_006717326.1:p.Arg426Gly, NP_001290033.1:p.Arg413Gly, XP_006717323.1:p.Arg398Gly, XP_005252219.1:p.Arg388Gly, XP_047279769.1:p.Arg397Gly, XP_047279770.1:p.Arg387Gly, XP_047279771.1:p.Arg364Gly, XP_047279772.1:p.Arg363Gly, XP_047279773.1:p.Arg353Gly, XP_047279774.1:p.Arg276Gly

                    10.

                    rs1476857702 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:81633354 (GRCh38)
                      9:84248269 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:81633353:C:T
                      Gene:
                      TLE1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (TOPMED)
                      C=0.5/1 (SGDP_PRJ)
                      HGVS:
                      NC_000009.12:g.81633354C>T, NC_000009.11:g.84248269C>T, NM_005077.5:c.588G>A, NM_005077.4:c.588G>A, NM_005077.3:c.588G>A, XM_006717259.5:c.450G>A, XM_006717259.4:c.450G>A, XM_006717259.3:c.450G>A, XM_006717259.2:c.450G>A, XM_006717259.1:c.450G>A, XM_005252156.4:c.618G>A, XM_005252156.3:c.618G>A, XM_005252156.2:c.618G>A, XM_005252156.1:c.618G>A, XM_011518951.3:c.585G>A, XM_011518951.2:c.585G>A, XM_011518951.1:c.585G>A, XM_006717261.3:c.273G>A, XM_006717261.2:c.273G>A, XM_006717261.1:c.273G>A, XM_005252151.2:c.618G>A, XM_005252151.1:c.618G>A, XM_006717258.2:c.615G>A, XM_006717258.1:c.615G>A, XM_005252152.2:c.618G>A, XM_005252152.1:c.618G>A, XM_005252153.2:c.588G>A, XM_005252153.1:c.588G>A, XM_005252154.2:c.585G>A, XM_005252154.1:c.585G>A, NM_001303103.2:c.618G>A, NM_001303103.1:c.618G>A, XM_006717262.2:c.588G>A, XM_006717262.1:c.588G>A, XM_006717263.2:c.585G>A, XM_006717263.1:c.585G>A, NM_001303104.2:c.588G>A, NM_001303104.1:c.588G>A

                      11.

                      rs1476764842 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        9:81634195 (GRCh38)
                        9:84249110 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:81634194:C:A,NC_000009.12:81634194:C:T
                        Gene:
                        TLE1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000031/1 (ALFA)
                        T=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.81634195C>A, NC_000009.12:g.81634195C>T, NC_000009.11:g.84249110C>A, NC_000009.11:g.84249110C>T, NM_005077.5:c.479G>T, NM_005077.5:c.479G>A, NM_005077.4:c.479G>T, NM_005077.4:c.479G>A, NM_005077.3:c.479G>T, NM_005077.3:c.479G>A, XM_006717259.5:c.341G>T, XM_006717259.5:c.341G>A, XM_006717259.4:c.341G>T, XM_006717259.4:c.341G>A, XM_006717259.3:c.341G>T, XM_006717259.3:c.341G>A, XM_006717259.2:c.341G>T, XM_006717259.2:c.341G>A, XM_006717259.1:c.341G>T, XM_006717259.1:c.341G>A, XM_005252156.4:c.509G>T, XM_005252156.4:c.509G>A, XM_005252156.3:c.509G>T, XM_005252156.3:c.509G>A, XM_005252156.2:c.509G>T, XM_005252156.2:c.509G>A, XM_005252156.1:c.509G>T, XM_005252156.1:c.509G>A, XM_011518951.3:c.476G>T, XM_011518951.3:c.476G>A, XM_011518951.2:c.476G>T, XM_011518951.2:c.476G>A, XM_011518951.1:c.476G>T, XM_011518951.1:c.476G>A, XM_006717261.3:c.164G>T, XM_006717261.3:c.164G>A, XM_006717261.2:c.164G>T, XM_006717261.2:c.164G>A, XM_006717261.1:c.164G>T, XM_006717261.1:c.164G>A, XM_005252151.2:c.509G>T, XM_005252151.2:c.509G>A, XM_005252151.1:c.509G>T, XM_005252151.1:c.509G>A, XM_006717258.2:c.506G>T, XM_006717258.2:c.506G>A, XM_006717258.1:c.506G>T, XM_006717258.1:c.506G>A, XM_005252152.2:c.509G>T, XM_005252152.2:c.509G>A, XM_005252152.1:c.509G>T, XM_005252152.1:c.509G>A, XM_005252153.2:c.479G>T, XM_005252153.2:c.479G>A, XM_005252153.1:c.479G>T, XM_005252153.1:c.479G>A, XM_005252154.2:c.476G>T, XM_005252154.2:c.476G>A, XM_005252154.1:c.476G>T, XM_005252154.1:c.476G>A, NM_001303103.2:c.509G>T, NM_001303103.2:c.509G>A, NM_001303103.1:c.509G>T, NM_001303103.1:c.509G>A, XM_006717262.2:c.479G>T, XM_006717262.2:c.479G>A, XM_006717262.1:c.479G>T, XM_006717262.1:c.479G>A, XM_006717263.2:c.476G>T, XM_006717263.2:c.476G>A, XM_006717263.1:c.476G>T, XM_006717263.1:c.476G>A, NM_001303104.2:c.479G>T, NM_001303104.2:c.479G>A, NM_001303104.1:c.479G>T, NM_001303104.1:c.479G>A, XM_047423818.1:c.-63G>T, XM_047423818.1:c.-63G>A, NP_005068.2:p.Gly160Val, NP_005068.2:p.Gly160Asp, XP_006717322.1:p.Gly114Val, XP_006717322.1:p.Gly114Asp, XP_005252213.1:p.Gly170Val, XP_005252213.1:p.Gly170Asp, XP_011517253.1:p.Gly159Val, XP_011517253.1:p.Gly159Asp, XP_006717324.1:p.Gly55Val, XP_006717324.1:p.Gly55Asp, XP_005252208.1:p.Gly170Val, XP_005252208.1:p.Gly170Asp, XP_006717321.1:p.Gly169Val, XP_006717321.1:p.Gly169Asp, XP_005252209.1:p.Gly170Val, XP_005252209.1:p.Gly170Asp, XP_005252210.1:p.Gly160Val, XP_005252210.1:p.Gly160Asp, XP_005252211.1:p.Gly159Val, XP_005252211.1:p.Gly159Asp, NP_001290032.1:p.Gly170Val, NP_001290032.1:p.Gly170Asp, XP_006717325.1:p.Gly160Val, XP_006717325.1:p.Gly160Asp, XP_006717326.1:p.Gly159Val, XP_006717326.1:p.Gly159Asp, NP_001290033.1:p.Gly160Val, NP_001290033.1:p.Gly160Asp

                        12.

                        rs1476568043 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          9:81593235 (GRCh38)
                          9:84208150 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:81593234:C:A
                          Gene:
                          TLE1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000009.12:g.81593235C>A, NC_000009.11:g.84208150C>A, NM_005077.5:c.1371G>T, NM_005077.4:c.1371G>T, NM_005077.3:c.1371G>T, XM_006717259.5:c.1335G>T, XM_006717259.4:c.1335G>T, XM_006717259.3:c.1335G>T, XM_006717259.2:c.1335G>T, XM_006717259.1:c.1335G>T, XM_005252156.4:c.1398G>T, XM_005252156.3:c.1398G>T, XM_005252156.2:c.1398G>T, XM_005252156.1:c.1398G>T, XM_011518951.3:c.1368G>T, XM_011518951.2:c.1368G>T, XM_011518951.1:c.1368G>T, XM_005252163.3:c.1149G>T, XM_005252163.2:c.1149G>T, XM_005252163.1:c.1149G>T, XM_006717261.3:c.1158G>T, XM_006717261.2:c.1158G>T, XM_006717261.1:c.1158G>T, XM_005252151.2:c.1503G>T, XM_005252151.1:c.1503G>T, XM_006717258.2:c.1500G>T, XM_006717258.1:c.1500G>T, XM_005252152.2:c.1500G>T, XM_005252152.1:c.1500G>T, XM_005252153.2:c.1473G>T, XM_005252153.1:c.1473G>T, XM_005252154.2:c.1470G>T, XM_005252154.1:c.1470G>T, NM_001303103.2:c.1401G>T, NM_001303103.1:c.1401G>T, XM_006717262.2:c.1368G>T, XM_006717262.1:c.1368G>T, XM_006717263.2:c.1365G>T, XM_006717263.1:c.1365G>T, NM_001303104.2:c.1326G>T, NM_001303104.1:c.1326G>T, XM_006717260.2:c.1281G>T, XM_006717260.1:c.1281G>T, XM_005252162.2:c.1251G>T, XM_005252162.1:c.1251G>T, XM_047423813.1:c.1278G>T, XM_047423814.1:c.1248G>T, XM_047423815.1:c.1179G>T, XM_047423816.1:c.1176G>T, XM_047423817.1:c.1146G>T, XM_047423818.1:c.915G>T, NP_005068.2:p.Gln457His, XP_006717322.1:p.Gln445His, XP_005252213.1:p.Gln466His, XP_011517253.1:p.Gln456His, XP_005252220.1:p.Gln383His, XP_006717324.1:p.Gln386His, XP_005252208.1:p.Gln501His, XP_006717321.1:p.Gln500His, XP_005252209.1:p.Gln500His, XP_005252210.1:p.Gln491His, XP_005252211.1:p.Gln490His, NP_001290032.1:p.Gln467His, XP_006717325.1:p.Gln456His, XP_006717326.1:p.Gln455His, NP_001290033.1:p.Gln442His, XP_006717323.1:p.Gln427His, XP_005252219.1:p.Gln417His, XP_047279769.1:p.Gln426His, XP_047279770.1:p.Gln416His, XP_047279771.1:p.Gln393His, XP_047279772.1:p.Gln392His, XP_047279773.1:p.Gln382His, XP_047279774.1:p.Gln305His

                          13.

                          rs1472978209 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:81593123 (GRCh38)
                            9:84208038 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:81593122:G:A
                            Gene:
                            TLE1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000047/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.81593123G>A, NC_000009.11:g.84208038G>A, NM_005077.5:c.1483C>T, NM_005077.4:c.1483C>T, NM_005077.3:c.1483C>T, XM_006717259.5:c.1447C>T, XM_006717259.4:c.1447C>T, XM_006717259.3:c.1447C>T, XM_006717259.2:c.1447C>T, XM_006717259.1:c.1447C>T, XM_005252156.4:c.1510C>T, XM_005252156.3:c.1510C>T, XM_005252156.2:c.1510C>T, XM_005252156.1:c.1510C>T, XM_011518951.3:c.1480C>T, XM_011518951.2:c.1480C>T, XM_011518951.1:c.1480C>T, XM_005252163.3:c.1261C>T, XM_005252163.2:c.1261C>T, XM_005252163.1:c.1261C>T, XM_006717261.3:c.1270C>T, XM_006717261.2:c.1270C>T, XM_006717261.1:c.1270C>T, XM_005252151.2:c.1615C>T, XM_005252151.1:c.1615C>T, XM_006717258.2:c.1612C>T, XM_006717258.1:c.1612C>T, XM_005252152.2:c.1612C>T, XM_005252152.1:c.1612C>T, XM_005252153.2:c.1585C>T, XM_005252153.1:c.1585C>T, XM_005252154.2:c.1582C>T, XM_005252154.1:c.1582C>T, NM_001303103.2:c.1513C>T, NM_001303103.1:c.1513C>T, XM_006717262.2:c.1480C>T, XM_006717262.1:c.1480C>T, XM_006717263.2:c.1477C>T, XM_006717263.1:c.1477C>T, NM_001303104.2:c.1438C>T, NM_001303104.1:c.1438C>T, XM_006717260.2:c.1393C>T, XM_006717260.1:c.1393C>T, XM_005252162.2:c.1363C>T, XM_005252162.1:c.1363C>T, XM_047423813.1:c.1390C>T, XM_047423814.1:c.1360C>T, XM_047423815.1:c.1291C>T, XM_047423816.1:c.1288C>T, XM_047423817.1:c.1258C>T, XM_047423818.1:c.1027C>T, NP_005068.2:p.Pro495Ser, XP_006717322.1:p.Pro483Ser, XP_005252213.1:p.Pro504Ser, XP_011517253.1:p.Pro494Ser, XP_005252220.1:p.Pro421Ser, XP_006717324.1:p.Pro424Ser, XP_005252208.1:p.Pro539Ser, XP_006717321.1:p.Pro538Ser, XP_005252209.1:p.Pro538Ser, XP_005252210.1:p.Pro529Ser, XP_005252211.1:p.Pro528Ser, NP_001290032.1:p.Pro505Ser, XP_006717325.1:p.Pro494Ser, XP_006717326.1:p.Pro493Ser, NP_001290033.1:p.Pro480Ser, XP_006717323.1:p.Pro465Ser, XP_005252219.1:p.Pro455Ser, XP_047279769.1:p.Pro464Ser, XP_047279770.1:p.Pro454Ser, XP_047279771.1:p.Pro431Ser, XP_047279772.1:p.Pro430Ser, XP_047279773.1:p.Pro420Ser, XP_047279774.1:p.Pro343Ser

                            14.

                            rs1472933588 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:81612391 (GRCh38)
                              9:84227306 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:81612390:A:G
                              Gene:
                              TLE1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1472424604 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                9:81584477 (GRCh38)
                                9:84199392 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:81584476:G:A,NC_000009.12:81584476:G:T
                                Gene:
                                TLE1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000009.12:g.81584477G>A, NC_000009.12:g.81584477G>T, NC_000009.11:g.84199392G>A, NC_000009.11:g.84199392G>T, NM_005077.5:c.2176C>T, NM_005077.5:c.2176C>A, NM_005077.4:c.2176C>T, NM_005077.4:c.2176C>A, NM_005077.3:c.2176C>T, NM_005077.3:c.2176C>A, XM_006717259.5:c.2140C>T, XM_006717259.5:c.2140C>A, XM_006717259.4:c.2140C>T, XM_006717259.4:c.2140C>A, XM_006717259.3:c.2140C>T, XM_006717259.3:c.2140C>A, XM_006717259.2:c.2140C>T, XM_006717259.2:c.2140C>A, XM_006717259.1:c.2140C>T, XM_006717259.1:c.2140C>A, XM_005252156.4:c.2203C>T, XM_005252156.4:c.2203C>A, XM_005252156.3:c.2203C>T, XM_005252156.3:c.2203C>A, XM_005252156.2:c.2203C>T, XM_005252156.2:c.2203C>A, XM_005252156.1:c.2203C>T, XM_005252156.1:c.2203C>A, XM_011518951.3:c.2173C>T, XM_011518951.3:c.2173C>A, XM_011518951.2:c.2173C>T, XM_011518951.2:c.2173C>A, XM_011518951.1:c.2173C>T, XM_011518951.1:c.2173C>A, XM_005252163.3:c.1954C>T, XM_005252163.3:c.1954C>A, XM_005252163.2:c.1954C>T, XM_005252163.2:c.1954C>A, XM_005252163.1:c.1954C>T, XM_005252163.1:c.1954C>A, XM_006717261.3:c.1963C>T, XM_006717261.3:c.1963C>A, XM_006717261.2:c.1963C>T, XM_006717261.2:c.1963C>A, XM_006717261.1:c.1963C>T, XM_006717261.1:c.1963C>A, XM_005252151.2:c.2308C>T, XM_005252151.2:c.2308C>A, XM_005252151.1:c.2308C>T, XM_005252151.1:c.2308C>A, XM_006717258.2:c.2305C>T, XM_006717258.2:c.2305C>A, XM_006717258.1:c.2305C>T, XM_006717258.1:c.2305C>A, XM_005252152.2:c.2305C>T, XM_005252152.2:c.2305C>A, XM_005252152.1:c.2305C>T, XM_005252152.1:c.2305C>A, XM_005252153.2:c.2278C>T, XM_005252153.2:c.2278C>A, XM_005252153.1:c.2278C>T, XM_005252153.1:c.2278C>A, XM_005252154.2:c.2275C>T, XM_005252154.2:c.2275C>A, XM_005252154.1:c.2275C>T, XM_005252154.1:c.2275C>A, NM_001303103.2:c.2206C>T, NM_001303103.2:c.2206C>A, NM_001303103.1:c.2206C>T, NM_001303103.1:c.2206C>A, XM_006717262.2:c.2173C>T, XM_006717262.2:c.2173C>A, XM_006717262.1:c.2173C>T, XM_006717262.1:c.2173C>A, XM_006717263.2:c.2170C>T, XM_006717263.2:c.2170C>A, XM_006717263.1:c.2170C>T, XM_006717263.1:c.2170C>A, NM_001303104.2:c.2131C>T, NM_001303104.2:c.2131C>A, NM_001303104.1:c.2131C>T, NM_001303104.1:c.2131C>A, XM_006717260.2:c.2086C>T, XM_006717260.2:c.2086C>A, XM_006717260.1:c.2086C>T, XM_006717260.1:c.2086C>A, XM_005252162.2:c.2056C>T, XM_005252162.2:c.2056C>A, XM_005252162.1:c.2056C>T, XM_005252162.1:c.2056C>A, XM_047423813.1:c.2083C>T, XM_047423813.1:c.2083C>A, XM_047423814.1:c.2053C>T, XM_047423814.1:c.2053C>A, XM_047423815.1:c.1984C>T, XM_047423815.1:c.1984C>A, XM_047423816.1:c.1981C>T, XM_047423816.1:c.1981C>A, XM_047423817.1:c.1951C>T, XM_047423817.1:c.1951C>A, XM_047423818.1:c.1720C>T, XM_047423818.1:c.1720C>A, NP_005068.2:p.Arg726Trp, XP_006717322.1:p.Arg714Trp, XP_005252213.1:p.Arg735Trp, XP_011517253.1:p.Arg725Trp, XP_005252220.1:p.Arg652Trp, XP_006717324.1:p.Arg655Trp, XP_005252208.1:p.Arg770Trp, XP_006717321.1:p.Arg769Trp, XP_005252209.1:p.Arg769Trp, XP_005252210.1:p.Arg760Trp, XP_005252211.1:p.Arg759Trp, NP_001290032.1:p.Arg736Trp, XP_006717325.1:p.Arg725Trp, XP_006717326.1:p.Arg724Trp, NP_001290033.1:p.Arg711Trp, XP_006717323.1:p.Arg696Trp, XP_005252219.1:p.Arg686Trp, XP_047279769.1:p.Arg695Trp, XP_047279770.1:p.Arg685Trp, XP_047279771.1:p.Arg662Trp, XP_047279772.1:p.Arg661Trp, XP_047279773.1:p.Arg651Trp, XP_047279774.1:p.Arg574Trp

                                16.

                                rs1471933221 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:81584493 (GRCh38)
                                  9:84199408 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:81584492:G:A
                                  Gene:
                                  TLE1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.81584493G>A, NC_000009.11:g.84199408G>A, NM_005077.5:c.2160C>T, NM_005077.4:c.2160C>T, NM_005077.3:c.2160C>T, XM_006717259.5:c.2124C>T, XM_006717259.4:c.2124C>T, XM_006717259.3:c.2124C>T, XM_006717259.2:c.2124C>T, XM_006717259.1:c.2124C>T, XM_005252156.4:c.2187C>T, XM_005252156.3:c.2187C>T, XM_005252156.2:c.2187C>T, XM_005252156.1:c.2187C>T, XM_011518951.3:c.2157C>T, XM_011518951.2:c.2157C>T, XM_011518951.1:c.2157C>T, XM_005252163.3:c.1938C>T, XM_005252163.2:c.1938C>T, XM_005252163.1:c.1938C>T, XM_006717261.3:c.1947C>T, XM_006717261.2:c.1947C>T, XM_006717261.1:c.1947C>T, XM_005252151.2:c.2292C>T, XM_005252151.1:c.2292C>T, XM_006717258.2:c.2289C>T, XM_006717258.1:c.2289C>T, XM_005252152.2:c.2289C>T, XM_005252152.1:c.2289C>T, XM_005252153.2:c.2262C>T, XM_005252153.1:c.2262C>T, XM_005252154.2:c.2259C>T, XM_005252154.1:c.2259C>T, NM_001303103.2:c.2190C>T, NM_001303103.1:c.2190C>T, XM_006717262.2:c.2157C>T, XM_006717262.1:c.2157C>T, XM_006717263.2:c.2154C>T, XM_006717263.1:c.2154C>T, NM_001303104.2:c.2115C>T, NM_001303104.1:c.2115C>T, XM_006717260.2:c.2070C>T, XM_006717260.1:c.2070C>T, XM_005252162.2:c.2040C>T, XM_005252162.1:c.2040C>T, XM_047423813.1:c.2067C>T, XM_047423814.1:c.2037C>T, XM_047423815.1:c.1968C>T, XM_047423816.1:c.1965C>T, XM_047423817.1:c.1935C>T, XM_047423818.1:c.1704C>T

                                  17.

                                  rs1467487618 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:81590881 (GRCh38)
                                    9:84205796 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:81590880:C:T
                                    Gene:
                                    TLE1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.81590881C>T, NC_000009.11:g.84205796C>T, NM_005077.5:c.1753G>A, NM_005077.4:c.1753G>A, NM_005077.3:c.1753G>A, XM_006717259.5:c.1717G>A, XM_006717259.4:c.1717G>A, XM_006717259.3:c.1717G>A, XM_006717259.2:c.1717G>A, XM_006717259.1:c.1717G>A, XM_005252156.4:c.1780G>A, XM_005252156.3:c.1780G>A, XM_005252156.2:c.1780G>A, XM_005252156.1:c.1780G>A, XM_011518951.3:c.1750G>A, XM_011518951.2:c.1750G>A, XM_011518951.1:c.1750G>A, XM_005252163.3:c.1531G>A, XM_005252163.2:c.1531G>A, XM_005252163.1:c.1531G>A, XM_006717261.3:c.1540G>A, XM_006717261.2:c.1540G>A, XM_006717261.1:c.1540G>A, XM_005252151.2:c.1885G>A, XM_005252151.1:c.1885G>A, XM_006717258.2:c.1882G>A, XM_006717258.1:c.1882G>A, XM_005252152.2:c.1882G>A, XM_005252152.1:c.1882G>A, XM_005252153.2:c.1855G>A, XM_005252153.1:c.1855G>A, XM_005252154.2:c.1852G>A, XM_005252154.1:c.1852G>A, NM_001303103.2:c.1783G>A, NM_001303103.1:c.1783G>A, XM_006717262.2:c.1750G>A, XM_006717262.1:c.1750G>A, XM_006717263.2:c.1747G>A, XM_006717263.1:c.1747G>A, NM_001303104.2:c.1708G>A, NM_001303104.1:c.1708G>A, XM_006717260.2:c.1663G>A, XM_006717260.1:c.1663G>A, XM_005252162.2:c.1633G>A, XM_005252162.1:c.1633G>A, XM_047423813.1:c.1660G>A, XM_047423814.1:c.1630G>A, XM_047423815.1:c.1561G>A, XM_047423816.1:c.1558G>A, XM_047423817.1:c.1528G>A, XM_047423818.1:c.1297G>A, NP_005068.2:p.Asp585Asn, XP_006717322.1:p.Asp573Asn, XP_005252213.1:p.Asp594Asn, XP_011517253.1:p.Asp584Asn, XP_005252220.1:p.Asp511Asn, XP_006717324.1:p.Asp514Asn, XP_005252208.1:p.Asp629Asn, XP_006717321.1:p.Asp628Asn, XP_005252209.1:p.Asp628Asn, XP_005252210.1:p.Asp619Asn, XP_005252211.1:p.Asp618Asn, NP_001290032.1:p.Asp595Asn, XP_006717325.1:p.Asp584Asn, XP_006717326.1:p.Asp583Asn, NP_001290033.1:p.Asp570Asn, XP_006717323.1:p.Asp555Asn, XP_005252219.1:p.Asp545Asn, XP_047279769.1:p.Asp554Asn, XP_047279770.1:p.Asp544Asn, XP_047279771.1:p.Asp521Asn, XP_047279772.1:p.Asp520Asn, XP_047279773.1:p.Asp510Asn, XP_047279774.1:p.Asp433Asn

                                    18.

                                    rs1467204274 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:81590930 (GRCh38)
                                      9:84205845 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:81590929:C:T
                                      Gene:
                                      TLE1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000012/3 (GnomAD_exomes)
                                      T=0.000546/1 (Korea1K)
                                      HGVS:
                                      NC_000009.12:g.81590930C>T, NC_000009.11:g.84205845C>T, NM_005077.5:c.1704G>A, NM_005077.4:c.1704G>A, NM_005077.3:c.1704G>A, XM_006717259.5:c.1668G>A, XM_006717259.4:c.1668G>A, XM_006717259.3:c.1668G>A, XM_006717259.2:c.1668G>A, XM_006717259.1:c.1668G>A, XM_005252156.4:c.1731G>A, XM_005252156.3:c.1731G>A, XM_005252156.2:c.1731G>A, XM_005252156.1:c.1731G>A, XM_011518951.3:c.1701G>A, XM_011518951.2:c.1701G>A, XM_011518951.1:c.1701G>A, XM_005252163.3:c.1482G>A, XM_005252163.2:c.1482G>A, XM_005252163.1:c.1482G>A, XM_006717261.3:c.1491G>A, XM_006717261.2:c.1491G>A, XM_006717261.1:c.1491G>A, XM_005252151.2:c.1836G>A, XM_005252151.1:c.1836G>A, XM_006717258.2:c.1833G>A, XM_006717258.1:c.1833G>A, XM_005252152.2:c.1833G>A, XM_005252152.1:c.1833G>A, XM_005252153.2:c.1806G>A, XM_005252153.1:c.1806G>A, XM_005252154.2:c.1803G>A, XM_005252154.1:c.1803G>A, NM_001303103.2:c.1734G>A, NM_001303103.1:c.1734G>A, XM_006717262.2:c.1701G>A, XM_006717262.1:c.1701G>A, XM_006717263.2:c.1698G>A, XM_006717263.1:c.1698G>A, NM_001303104.2:c.1659G>A, NM_001303104.1:c.1659G>A, XM_006717260.2:c.1614G>A, XM_006717260.1:c.1614G>A, XM_005252162.2:c.1584G>A, XM_005252162.1:c.1584G>A, XM_047423813.1:c.1611G>A, XM_047423814.1:c.1581G>A, XM_047423815.1:c.1512G>A, XM_047423816.1:c.1509G>A, XM_047423817.1:c.1479G>A, XM_047423818.1:c.1248G>A

                                      19.

                                      rs1464114116 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        9:81593104 (GRCh38)
                                        9:84208019 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:81593103:G:C
                                        Gene:
                                        TLE1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.81593104G>C, NC_000009.11:g.84208019G>C, NM_005077.5:c.1502C>G, NM_005077.4:c.1502C>G, NM_005077.3:c.1502C>G, XM_006717259.5:c.1466C>G, XM_006717259.4:c.1466C>G, XM_006717259.3:c.1466C>G, XM_006717259.2:c.1466C>G, XM_006717259.1:c.1466C>G, XM_005252156.4:c.1529C>G, XM_005252156.3:c.1529C>G, XM_005252156.2:c.1529C>G, XM_005252156.1:c.1529C>G, XM_011518951.3:c.1499C>G, XM_011518951.2:c.1499C>G, XM_011518951.1:c.1499C>G, XM_005252163.3:c.1280C>G, XM_005252163.2:c.1280C>G, XM_005252163.1:c.1280C>G, XM_006717261.3:c.1289C>G, XM_006717261.2:c.1289C>G, XM_006717261.1:c.1289C>G, XM_005252151.2:c.1634C>G, XM_005252151.1:c.1634C>G, XM_006717258.2:c.1631C>G, XM_006717258.1:c.1631C>G, XM_005252152.2:c.1631C>G, XM_005252152.1:c.1631C>G, XM_005252153.2:c.1604C>G, XM_005252153.1:c.1604C>G, XM_005252154.2:c.1601C>G, XM_005252154.1:c.1601C>G, NM_001303103.2:c.1532C>G, NM_001303103.1:c.1532C>G, XM_006717262.2:c.1499C>G, XM_006717262.1:c.1499C>G, XM_006717263.2:c.1496C>G, XM_006717263.1:c.1496C>G, NM_001303104.2:c.1457C>G, NM_001303104.1:c.1457C>G, XM_006717260.2:c.1412C>G, XM_006717260.1:c.1412C>G, XM_005252162.2:c.1382C>G, XM_005252162.1:c.1382C>G, XM_047423813.1:c.1409C>G, XM_047423814.1:c.1379C>G, XM_047423815.1:c.1310C>G, XM_047423816.1:c.1307C>G, XM_047423817.1:c.1277C>G, XM_047423818.1:c.1046C>G, NP_005068.2:p.Thr501Arg, XP_006717322.1:p.Thr489Arg, XP_005252213.1:p.Thr510Arg, XP_011517253.1:p.Thr500Arg, XP_005252220.1:p.Thr427Arg, XP_006717324.1:p.Thr430Arg, XP_005252208.1:p.Thr545Arg, XP_006717321.1:p.Thr544Arg, XP_005252209.1:p.Thr544Arg, XP_005252210.1:p.Thr535Arg, XP_005252211.1:p.Thr534Arg, NP_001290032.1:p.Thr511Arg, XP_006717325.1:p.Thr500Arg, XP_006717326.1:p.Thr499Arg, NP_001290033.1:p.Thr486Arg, XP_006717323.1:p.Thr471Arg, XP_005252219.1:p.Thr461Arg, XP_047279769.1:p.Thr470Arg, XP_047279770.1:p.Thr460Arg, XP_047279771.1:p.Thr437Arg, XP_047279772.1:p.Thr436Arg, XP_047279773.1:p.Thr426Arg, XP_047279774.1:p.Thr349Arg

                                        20.

                                        rs1462335117 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          9:81590992 (GRCh38)
                                          9:84205907 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:81590991:C:G
                                          Gene:
                                          TLE1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.81590992C>G, NC_000009.11:g.84205907C>G, NM_005077.5:c.1642G>C, NM_005077.4:c.1642G>C, NM_005077.3:c.1642G>C, XM_006717259.5:c.1606G>C, XM_006717259.4:c.1606G>C, XM_006717259.3:c.1606G>C, XM_006717259.2:c.1606G>C, XM_006717259.1:c.1606G>C, XM_005252156.4:c.1669G>C, XM_005252156.3:c.1669G>C, XM_005252156.2:c.1669G>C, XM_005252156.1:c.1669G>C, XM_011518951.3:c.1639G>C, XM_011518951.2:c.1639G>C, XM_011518951.1:c.1639G>C, XM_005252163.3:c.1420G>C, XM_005252163.2:c.1420G>C, XM_005252163.1:c.1420G>C, XM_006717261.3:c.1429G>C, XM_006717261.2:c.1429G>C, XM_006717261.1:c.1429G>C, XM_005252151.2:c.1774G>C, XM_005252151.1:c.1774G>C, XM_006717258.2:c.1771G>C, XM_006717258.1:c.1771G>C, XM_005252152.2:c.1771G>C, XM_005252152.1:c.1771G>C, XM_005252153.2:c.1744G>C, XM_005252153.1:c.1744G>C, XM_005252154.2:c.1741G>C, XM_005252154.1:c.1741G>C, NM_001303103.2:c.1672G>C, NM_001303103.1:c.1672G>C, XM_006717262.2:c.1639G>C, XM_006717262.1:c.1639G>C, XM_006717263.2:c.1636G>C, XM_006717263.1:c.1636G>C, NM_001303104.2:c.1597G>C, NM_001303104.1:c.1597G>C, XM_006717260.2:c.1552G>C, XM_006717260.1:c.1552G>C, XM_005252162.2:c.1522G>C, XM_005252162.1:c.1522G>C, XM_047423813.1:c.1549G>C, XM_047423814.1:c.1519G>C, XM_047423815.1:c.1450G>C, XM_047423816.1:c.1447G>C, XM_047423817.1:c.1417G>C, XM_047423818.1:c.1186G>C, NP_005068.2:p.Gly548Arg, XP_006717322.1:p.Gly536Arg, XP_005252213.1:p.Gly557Arg, XP_011517253.1:p.Gly547Arg, XP_005252220.1:p.Gly474Arg, XP_006717324.1:p.Gly477Arg, XP_005252208.1:p.Gly592Arg, XP_006717321.1:p.Gly591Arg, XP_005252209.1:p.Gly591Arg, XP_005252210.1:p.Gly582Arg, XP_005252211.1:p.Gly581Arg, NP_001290032.1:p.Gly558Arg, XP_006717325.1:p.Gly547Arg, XP_006717326.1:p.Gly546Arg, NP_001290033.1:p.Gly533Arg, XP_006717323.1:p.Gly518Arg, XP_005252219.1:p.Gly508Arg, XP_047279769.1:p.Gly517Arg, XP_047279770.1:p.Gly507Arg, XP_047279771.1:p.Gly484Arg, XP_047279772.1:p.Gly483Arg, XP_047279773.1:p.Gly473Arg, XP_047279774.1:p.Gly396Arg

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