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Items: 1 to 20 of 271

1.

rs1490744004 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:33384193 (GRCh38)
    3:33425685 (GRCh37)
    Canonical SPDI:
    NC_000003.12:33384192:C:T
    Gene:
    FBXL2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.33384193C>T, NC_000003.11:g.33425685C>T, NM_012157.5:c.1156C>T, NM_012157.4:c.1156C>T, NM_012157.3:c.1156C>T, NR_146130.2:n.1485C>T, NR_146130.1:n.1511C>T, NM_001349321.2:c.934C>T, NM_001349321.1:c.934C>T, NM_001349326.2:c.841C>T, NM_001349326.1:c.841C>T, NR_146134.2:n.1414C>T, NR_146134.1:n.1440C>T, NM_001349325.2:c.841C>T, NM_001349325.1:c.841C>T, NM_001349320.2:c.934C>T, NM_001349320.1:c.934C>T, NM_001349319.2:c.934C>T, NM_001349319.1:c.934C>T, NR_146131.2:n.1321C>T, NR_146131.1:n.1347C>T, NM_001349316.2:c.1249C>T, NM_001349316.1:c.1249C>T, NR_146122.2:n.1319C>T, NR_146122.1:n.1319C>T, NR_146135.2:n.1314C>T, NR_146135.1:n.1340C>T, NR_146126.2:n.1305C>T, NR_146126.1:n.1331C>T, NR_146133.2:n.1277C>T, NR_146133.1:n.1303C>T, NM_001349324.2:c.841C>T, NM_001349324.1:c.841C>T, NM_001349323.2:c.841C>T, NM_001349323.1:c.841C>T, NR_146121.2:n.1225C>T, NR_146121.1:n.1225C>T, NM_001349322.2:c.904C>T, NM_001349322.1:c.904C>T, NM_001171713.2:c.952C>T, NR_146123.2:n.1321C>T, NR_146123.1:n.1347C>T, NR_146132.2:n.1227C>T, NR_146132.1:n.1253C>T, NR_146124.2:n.1339C>T, NR_146124.1:n.1365C>T, NR_146125.2:n.1321C>T, NR_146125.1:n.1347C>T, NR_146129.2:n.1278C>T, NR_146129.1:n.1304C>T, NR_146127.2:n.1227C>T, NR_146127.1:n.1253C>T, NR_146128.2:n.1002C>T, NR_146128.1:n.1028C>T, NM_001171713.1:c.952C>T, XR_007095659.1:n.1320C>T, NP_036289.3:p.Arg386Trp, NP_001336250.1:p.Arg312Trp, NP_001336255.1:p.Arg281Trp, NP_001336254.1:p.Arg281Trp, NP_001336249.1:p.Arg312Trp, NP_001336248.1:p.Arg312Trp, NP_001336245.1:p.Arg417Trp, NP_001336253.1:p.Arg281Trp, NP_001336252.1:p.Arg281Trp, NP_001336251.1:p.Arg302Trp

    2.

    rs1488631996 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:33373886 (GRCh38)
      3:33415378 (GRCh37)
      Canonical SPDI:
      NC_000003.12:33373885:C:T
      Gene:
      FBXL2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000003.12:g.33373886C>T, NC_000003.11:g.33415378C>T, NM_012157.5:c.622C>T, NM_012157.4:c.622C>T, NM_012157.3:c.622C>T, NR_146130.2:n.858C>T, NR_146130.1:n.884C>T, NM_001349321.2:c.307C>T, NM_001349321.1:c.307C>T, NM_001349326.2:c.307C>T, NM_001349326.1:c.307C>T, NR_146134.2:n.787C>T, NR_146134.1:n.813C>T, NM_001349325.2:c.307C>T, NM_001349325.1:c.307C>T, NM_001349320.2:c.307C>T, NM_001349320.1:c.307C>T, NM_001349319.2:c.307C>T, NM_001349319.1:c.307C>T, NR_146131.2:n.787C>T, NR_146131.1:n.813C>T, NM_001349316.2:c.622C>T, NM_001349316.1:c.622C>T, NR_146122.2:n.785C>T, NR_146122.1:n.785C>T, NR_146135.2:n.780C>T, NR_146135.1:n.806C>T, NR_146126.2:n.771C>T, NR_146126.1:n.797C>T, NR_146133.2:n.743C>T, NR_146133.1:n.769C>T, NM_001349324.2:c.307C>T, NM_001349324.1:c.307C>T, NM_001349323.2:c.307C>T, NM_001349323.1:c.307C>T, NR_146121.2:n.691C>T, NR_146121.1:n.691C>T, NM_001349322.2:c.370C>T, NM_001349322.1:c.370C>T, NM_001171713.2:c.418C>T, NR_146123.2:n.787C>T, NR_146123.1:n.813C>T, NR_146132.2:n.693C>T, NR_146132.1:n.719C>T, NR_146124.2:n.712C>T, NR_146124.1:n.738C>T, NR_146125.2:n.787C>T, NR_146125.1:n.813C>T, NR_146129.2:n.744C>T, NR_146129.1:n.770C>T, NR_146127.2:n.693C>T, NR_146127.1:n.719C>T, NR_146128.2:n.468C>T, NR_146128.1:n.494C>T, NM_001171713.1:c.418C>T, XR_007095659.1:n.693C>T, NP_036289.3:p.His208Tyr, NP_001336250.1:p.His103Tyr, NP_001336255.1:p.His103Tyr, NP_001336254.1:p.His103Tyr, NP_001336249.1:p.His103Tyr, NP_001336248.1:p.His103Tyr, NP_001336245.1:p.His208Tyr, NP_001336253.1:p.His103Tyr, NP_001336252.1:p.His103Tyr, NP_001336251.1:p.His124Tyr

      3.

      rs1487345167 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:33384093 (GRCh38)
        3:33425585 (GRCh37)
        Canonical SPDI:
        NC_000003.12:33384092:C:T
        Gene:
        FBXL2 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        T=0.000142/2 (TOMMO)
        HGVS:
        NC_000003.12:g.33384093C>T, NC_000003.11:g.33425585C>T, NM_012157.5:c.1056C>T, NM_012157.4:c.1056C>T, NM_012157.3:c.1056C>T, NR_146130.2:n.1385C>T, NR_146130.1:n.1411C>T, NM_001349321.2:c.834C>T, NM_001349321.1:c.834C>T, NM_001349326.2:c.741C>T, NM_001349326.1:c.741C>T, NR_146134.2:n.1314C>T, NR_146134.1:n.1340C>T, NM_001349325.2:c.741C>T, NM_001349325.1:c.741C>T, NM_001349320.2:c.834C>T, NM_001349320.1:c.834C>T, NM_001349319.2:c.834C>T, NM_001349319.1:c.834C>T, NR_146131.2:n.1221C>T, NR_146131.1:n.1247C>T, NM_001349316.2:c.1149C>T, NM_001349316.1:c.1149C>T, NR_146122.2:n.1219C>T, NR_146122.1:n.1219C>T, NR_146135.2:n.1214C>T, NR_146135.1:n.1240C>T, NR_146126.2:n.1205C>T, NR_146126.1:n.1231C>T, NR_146133.2:n.1177C>T, NR_146133.1:n.1203C>T, NM_001349324.2:c.741C>T, NM_001349324.1:c.741C>T, NM_001349323.2:c.741C>T, NM_001349323.1:c.741C>T, NR_146121.2:n.1125C>T, NR_146121.1:n.1125C>T, NM_001349322.2:c.804C>T, NM_001349322.1:c.804C>T, NM_001171713.2:c.852C>T, NR_146123.2:n.1221C>T, NR_146123.1:n.1247C>T, NR_146132.2:n.1127C>T, NR_146132.1:n.1153C>T, NR_146124.2:n.1239C>T, NR_146124.1:n.1265C>T, NR_146125.2:n.1221C>T, NR_146125.1:n.1247C>T, NR_146129.2:n.1178C>T, NR_146129.1:n.1204C>T, NR_146127.2:n.1127C>T, NR_146127.1:n.1153C>T, NR_146128.2:n.902C>T, NR_146128.1:n.928C>T, NM_001171713.1:c.852C>T, XR_007095659.1:n.1220C>T

        4.

        rs1483259632 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          3:33375412 (GRCh38)
          3:33416904 (GRCh37)
          Canonical SPDI:
          NC_000003.12:33375411:G:A,NC_000003.12:33375411:G:T
          Gene:
          FBXL2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000003.12:g.33375412G>A, NC_000003.12:g.33375412G>T, NC_000003.11:g.33416904G>A, NC_000003.11:g.33416904G>T, NM_012157.5:c.782G>A, NM_012157.5:c.782G>T, NM_012157.4:c.782G>A, NM_012157.4:c.782G>T, NM_012157.3:c.782G>A, NM_012157.3:c.782G>T, NR_146130.2:n.1018G>A, NR_146130.2:n.1018G>T, NR_146130.1:n.1044G>A, NR_146130.1:n.1044G>T, NM_001349321.2:c.467G>A, NM_001349321.2:c.467G>T, NM_001349321.1:c.467G>A, NM_001349321.1:c.467G>T, NM_001349326.2:c.467G>A, NM_001349326.2:c.467G>T, NM_001349326.1:c.467G>A, NM_001349326.1:c.467G>T, NR_146134.2:n.947G>A, NR_146134.2:n.947G>T, NR_146134.1:n.973G>A, NR_146134.1:n.973G>T, NM_001349325.2:c.467G>A, NM_001349325.2:c.467G>T, NM_001349325.1:c.467G>A, NM_001349325.1:c.467G>T, NM_001349320.2:c.467G>A, NM_001349320.2:c.467G>T, NM_001349320.1:c.467G>A, NM_001349320.1:c.467G>T, NM_001349319.2:c.467G>A, NM_001349319.2:c.467G>T, NM_001349319.1:c.467G>A, NM_001349319.1:c.467G>T, NR_146131.2:n.947G>A, NR_146131.2:n.947G>T, NR_146131.1:n.973G>A, NR_146131.1:n.973G>T, NM_001349316.2:c.782G>A, NM_001349316.2:c.782G>T, NM_001349316.1:c.782G>A, NM_001349316.1:c.782G>T, NR_146122.2:n.945G>A, NR_146122.2:n.945G>T, NR_146122.1:n.945G>A, NR_146122.1:n.945G>T, NR_146135.2:n.940G>A, NR_146135.2:n.940G>T, NR_146135.1:n.966G>A, NR_146135.1:n.966G>T, NR_146126.2:n.931G>A, NR_146126.2:n.931G>T, NR_146126.1:n.957G>A, NR_146126.1:n.957G>T, NR_146133.2:n.903G>A, NR_146133.2:n.903G>T, NR_146133.1:n.929G>A, NR_146133.1:n.929G>T, NM_001349324.2:c.467G>A, NM_001349324.2:c.467G>T, NM_001349324.1:c.467G>A, NM_001349324.1:c.467G>T, NM_001349323.2:c.467G>A, NM_001349323.2:c.467G>T, NM_001349323.1:c.467G>A, NM_001349323.1:c.467G>T, NR_146121.2:n.851G>A, NR_146121.2:n.851G>T, NR_146121.1:n.851G>A, NR_146121.1:n.851G>T, NM_001349322.2:c.530G>A, NM_001349322.2:c.530G>T, NM_001349322.1:c.530G>A, NM_001349322.1:c.530G>T, NM_001171713.2:c.578G>A, NM_001171713.2:c.578G>T, NR_146123.2:n.947G>A, NR_146123.2:n.947G>T, NR_146123.1:n.973G>A, NR_146123.1:n.973G>T, NR_146132.2:n.853G>A, NR_146132.2:n.853G>T, NR_146132.1:n.879G>A, NR_146132.1:n.879G>T, NR_146124.2:n.872G>A, NR_146124.2:n.872G>T, NR_146124.1:n.898G>A, NR_146124.1:n.898G>T, NR_146125.2:n.947G>A, NR_146125.2:n.947G>T, NR_146125.1:n.973G>A, NR_146125.1:n.973G>T, NR_146129.2:n.904G>A, NR_146129.2:n.904G>T, NR_146129.1:n.930G>A, NR_146129.1:n.930G>T, NR_146127.2:n.853G>A, NR_146127.2:n.853G>T, NR_146127.1:n.879G>A, NR_146127.1:n.879G>T, NR_146128.2:n.628G>A, NR_146128.2:n.628G>T, NR_146128.1:n.654G>A, NR_146128.1:n.654G>T, NM_001171713.1:c.578G>A, NM_001171713.1:c.578G>T, XR_007095659.1:n.853G>A, XR_007095659.1:n.853G>T, NP_036289.3:p.Arg261Gln, NP_036289.3:p.Arg261Leu, NP_001336250.1:p.Arg156Gln, NP_001336250.1:p.Arg156Leu, NP_001336255.1:p.Arg156Gln, NP_001336255.1:p.Arg156Leu, NP_001336254.1:p.Arg156Gln, NP_001336254.1:p.Arg156Leu, NP_001336249.1:p.Arg156Gln, NP_001336249.1:p.Arg156Leu, NP_001336248.1:p.Arg156Gln, NP_001336248.1:p.Arg156Leu, NP_001336245.1:p.Arg261Gln, NP_001336245.1:p.Arg261Leu, NP_001336253.1:p.Arg156Gln, NP_001336253.1:p.Arg156Leu, NP_001336252.1:p.Arg156Gln, NP_001336252.1:p.Arg156Leu, NP_001336251.1:p.Arg177Gln, NP_001336251.1:p.Arg177Leu

          5.

          rs1481171635 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:33384102 (GRCh38)
            3:33425594 (GRCh37)
            Canonical SPDI:
            NC_000003.12:33384101:T:C
            Gene:
            FBXL2 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.33384102T>C, NC_000003.11:g.33425594T>C, NM_012157.5:c.1065T>C, NM_012157.4:c.1065T>C, NM_012157.3:c.1065T>C, NR_146130.2:n.1394T>C, NR_146130.1:n.1420T>C, NM_001349321.2:c.843T>C, NM_001349321.1:c.843T>C, NM_001349326.2:c.750T>C, NM_001349326.1:c.750T>C, NR_146134.2:n.1323T>C, NR_146134.1:n.1349T>C, NM_001349325.2:c.750T>C, NM_001349325.1:c.750T>C, NM_001349320.2:c.843T>C, NM_001349320.1:c.843T>C, NM_001349319.2:c.843T>C, NM_001349319.1:c.843T>C, NR_146131.2:n.1230T>C, NR_146131.1:n.1256T>C, NM_001349316.2:c.1158T>C, NM_001349316.1:c.1158T>C, NR_146122.2:n.1228T>C, NR_146122.1:n.1228T>C, NR_146135.2:n.1223T>C, NR_146135.1:n.1249T>C, NR_146126.2:n.1214T>C, NR_146126.1:n.1240T>C, NR_146133.2:n.1186T>C, NR_146133.1:n.1212T>C, NM_001349324.2:c.750T>C, NM_001349324.1:c.750T>C, NM_001349323.2:c.750T>C, NM_001349323.1:c.750T>C, NR_146121.2:n.1134T>C, NR_146121.1:n.1134T>C, NM_001349322.2:c.813T>C, NM_001349322.1:c.813T>C, NM_001171713.2:c.861T>C, NR_146123.2:n.1230T>C, NR_146123.1:n.1256T>C, NR_146132.2:n.1136T>C, NR_146132.1:n.1162T>C, NR_146124.2:n.1248T>C, NR_146124.1:n.1274T>C, NR_146125.2:n.1230T>C, NR_146125.1:n.1256T>C, NR_146129.2:n.1187T>C, NR_146129.1:n.1213T>C, NR_146127.2:n.1136T>C, NR_146127.1:n.1162T>C, NR_146128.2:n.911T>C, NR_146128.1:n.937T>C, NM_001171713.1:c.861T>C, XR_007095659.1:n.1229T>C

            6.

            rs1476921651 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:33378695 (GRCh38)
              3:33420187 (GRCh37)
              Canonical SPDI:
              NC_000003.12:33378694:G:A
              Gene:
              FBXL2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000028/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000021/3 (GnomAD)
              A=0.000026/7 (TOPMED)
              HGVS:
              NC_000003.12:g.33378695G>A, NC_000003.11:g.33420187G>A, NM_012157.5:c.905G>A, NM_012157.4:c.905G>A, NM_012157.3:c.905G>A, NR_146130.2:n.1141G>A, NR_146130.1:n.1167G>A, NM_001349321.2:c.590G>A, NM_001349321.1:c.590G>A, NM_001349326.2:c.590G>A, NM_001349326.1:c.590G>A, NR_146134.2:n.1070G>A, NR_146134.1:n.1096G>A, NM_001349325.2:c.590G>A, NM_001349325.1:c.590G>A, NM_001349320.2:c.590G>A, NM_001349320.1:c.590G>A, NM_001349319.2:c.590G>A, NM_001349319.1:c.590G>A, NR_146131.2:n.1070G>A, NR_146131.1:n.1096G>A, NM_001349316.2:c.905G>A, NM_001349316.1:c.905G>A, NR_146122.2:n.1068G>A, NR_146122.1:n.1068G>A, NR_146135.2:n.1063G>A, NR_146135.1:n.1089G>A, NR_146126.2:n.1054G>A, NR_146126.1:n.1080G>A, NR_146133.2:n.1026G>A, NR_146133.1:n.1052G>A, NM_001349324.2:c.590G>A, NM_001349324.1:c.590G>A, NM_001349323.2:c.590G>A, NM_001349323.1:c.590G>A, NR_146121.2:n.974G>A, NR_146121.1:n.974G>A, NM_001349322.2:c.653G>A, NM_001349322.1:c.653G>A, NM_001171713.2:c.701G>A, NR_146123.2:n.1070G>A, NR_146123.1:n.1096G>A, NR_146132.2:n.976G>A, NR_146132.1:n.1002G>A, NR_146124.2:n.995G>A, NR_146124.1:n.1021G>A, NR_146125.2:n.1070G>A, NR_146125.1:n.1096G>A, NR_146129.2:n.1027G>A, NR_146129.1:n.1053G>A, NR_146127.2:n.976G>A, NR_146127.1:n.1002G>A, NR_146128.2:n.751G>A, NR_146128.1:n.777G>A, NM_001171713.1:c.701G>A, XR_007095659.1:n.976G>A, NP_036289.3:p.Ser302Asn, NP_001336250.1:p.Ser197Asn, NP_001336255.1:p.Ser197Asn, NP_001336254.1:p.Ser197Asn, NP_001336249.1:p.Ser197Asn, NP_001336248.1:p.Ser197Asn, NP_001336245.1:p.Ser302Asn, NP_001336253.1:p.Ser197Asn, NP_001336252.1:p.Ser197Asn, NP_001336251.1:p.Ser218Asn

              7.

              rs1476366664 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                3:33378718 (GRCh38)
                3:33420210 (GRCh37)
                Canonical SPDI:
                NC_000003.12:33378717:C:A
                Gene:
                FBXL2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.33378718C>A, NC_000003.11:g.33420210C>A, NM_012157.5:c.928C>A, NM_012157.4:c.928C>A, NM_012157.3:c.928C>A, NR_146130.2:n.1164C>A, NR_146130.1:n.1190C>A, NM_001349321.2:c.613C>A, NM_001349321.1:c.613C>A, NM_001349326.2:c.613C>A, NM_001349326.1:c.613C>A, NR_146134.2:n.1093C>A, NR_146134.1:n.1119C>A, NM_001349325.2:c.613C>A, NM_001349325.1:c.613C>A, NM_001349320.2:c.613C>A, NM_001349320.1:c.613C>A, NM_001349319.2:c.613C>A, NM_001349319.1:c.613C>A, NR_146131.2:n.1093C>A, NR_146131.1:n.1119C>A, NM_001349316.2:c.928C>A, NM_001349316.1:c.928C>A, NR_146122.2:n.1091C>A, NR_146122.1:n.1091C>A, NR_146135.2:n.1086C>A, NR_146135.1:n.1112C>A, NR_146126.2:n.1077C>A, NR_146126.1:n.1103C>A, NR_146133.2:n.1049C>A, NR_146133.1:n.1075C>A, NM_001349324.2:c.613C>A, NM_001349324.1:c.613C>A, NM_001349323.2:c.613C>A, NM_001349323.1:c.613C>A, NR_146121.2:n.997C>A, NR_146121.1:n.997C>A, NM_001349322.2:c.676C>A, NM_001349322.1:c.676C>A, NM_001171713.2:c.724C>A, NR_146123.2:n.1093C>A, NR_146123.1:n.1119C>A, NR_146132.2:n.999C>A, NR_146132.1:n.1025C>A, NR_146124.2:n.1018C>A, NR_146124.1:n.1044C>A, NR_146125.2:n.1093C>A, NR_146125.1:n.1119C>A, NR_146129.2:n.1050C>A, NR_146129.1:n.1076C>A, NR_146127.2:n.999C>A, NR_146127.1:n.1025C>A, NR_146128.2:n.774C>A, NR_146128.1:n.800C>A, NM_001171713.1:c.724C>A, XR_007095659.1:n.999C>A, NP_036289.3:p.His310Asn, NP_001336250.1:p.His205Asn, NP_001336255.1:p.His205Asn, NP_001336254.1:p.His205Asn, NP_001336249.1:p.His205Asn, NP_001336248.1:p.His205Asn, NP_001336245.1:p.His310Asn, NP_001336253.1:p.His205Asn, NP_001336252.1:p.His205Asn, NP_001336251.1:p.His226Asn

                8.

                rs1472140884 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  3:33377307 (GRCh38)
                  3:33418799 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:33377306:G:C
                  Gene:
                  FBXL2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.33377307G>C, NC_000003.11:g.33418799G>C, NM_012157.5:c.823G>C, NM_012157.4:c.823G>C, NM_012157.3:c.823G>C, NR_146130.2:n.1059G>C, NR_146130.1:n.1085G>C, NM_001349321.2:c.508G>C, NM_001349321.1:c.508G>C, NM_001349326.2:c.508G>C, NM_001349326.1:c.508G>C, NR_146134.2:n.988G>C, NR_146134.1:n.1014G>C, NM_001349325.2:c.508G>C, NM_001349325.1:c.508G>C, NM_001349320.2:c.508G>C, NM_001349320.1:c.508G>C, NM_001349319.2:c.508G>C, NM_001349319.1:c.508G>C, NR_146131.2:n.988G>C, NR_146131.1:n.1014G>C, NM_001349316.2:c.823G>C, NM_001349316.1:c.823G>C, NR_146122.2:n.986G>C, NR_146122.1:n.986G>C, NR_146135.2:n.981G>C, NR_146135.1:n.1007G>C, NR_146126.2:n.972G>C, NR_146126.1:n.998G>C, NR_146133.2:n.944G>C, NR_146133.1:n.970G>C, NM_001349324.2:c.508G>C, NM_001349324.1:c.508G>C, NM_001349323.2:c.508G>C, NM_001349323.1:c.508G>C, NR_146121.2:n.892G>C, NR_146121.1:n.892G>C, NM_001349322.2:c.571G>C, NM_001349322.1:c.571G>C, NM_001171713.2:c.619G>C, NR_146123.2:n.988G>C, NR_146123.1:n.1014G>C, NR_146132.2:n.894G>C, NR_146132.1:n.920G>C, NR_146124.2:n.913G>C, NR_146124.1:n.939G>C, NR_146125.2:n.988G>C, NR_146125.1:n.1014G>C, NR_146129.2:n.945G>C, NR_146129.1:n.971G>C, NR_146127.2:n.894G>C, NR_146127.1:n.920G>C, NR_146128.2:n.669G>C, NR_146128.1:n.695G>C, NM_001171713.1:c.619G>C, XR_007095659.1:n.894G>C, NP_036289.3:p.Asp275His, NP_001336250.1:p.Asp170His, NP_001336255.1:p.Asp170His, NP_001336254.1:p.Asp170His, NP_001336249.1:p.Asp170His, NP_001336248.1:p.Asp170His, NP_001336245.1:p.Asp275His, NP_001336253.1:p.Asp170His, NP_001336252.1:p.Asp170His, NP_001336251.1:p.Asp191His

                  9.

                  rs1467604841 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    3:33375357 (GRCh38)
                    3:33416849 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:33375356:G:T
                    Gene:
                    FBXL2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.33375357G>T, NC_000003.11:g.33416849G>T, NM_012157.5:c.727G>T, NM_012157.4:c.727G>T, NM_012157.3:c.727G>T, NR_146130.2:n.963G>T, NR_146130.1:n.989G>T, NM_001349321.2:c.412G>T, NM_001349321.1:c.412G>T, NM_001349326.2:c.412G>T, NM_001349326.1:c.412G>T, NR_146134.2:n.892G>T, NR_146134.1:n.918G>T, NM_001349325.2:c.412G>T, NM_001349325.1:c.412G>T, NM_001349320.2:c.412G>T, NM_001349320.1:c.412G>T, NM_001349319.2:c.412G>T, NM_001349319.1:c.412G>T, NR_146131.2:n.892G>T, NR_146131.1:n.918G>T, NM_001349316.2:c.727G>T, NM_001349316.1:c.727G>T, NR_146122.2:n.890G>T, NR_146122.1:n.890G>T, NR_146135.2:n.885G>T, NR_146135.1:n.911G>T, NR_146126.2:n.876G>T, NR_146126.1:n.902G>T, NR_146133.2:n.848G>T, NR_146133.1:n.874G>T, NM_001349324.2:c.412G>T, NM_001349324.1:c.412G>T, NM_001349323.2:c.412G>T, NM_001349323.1:c.412G>T, NR_146121.2:n.796G>T, NR_146121.1:n.796G>T, NM_001349322.2:c.475G>T, NM_001349322.1:c.475G>T, NM_001171713.2:c.523G>T, NR_146123.2:n.892G>T, NR_146123.1:n.918G>T, NR_146132.2:n.798G>T, NR_146132.1:n.824G>T, NR_146124.2:n.817G>T, NR_146124.1:n.843G>T, NR_146125.2:n.892G>T, NR_146125.1:n.918G>T, NR_146129.2:n.849G>T, NR_146129.1:n.875G>T, NR_146127.2:n.798G>T, NR_146127.1:n.824G>T, NR_146128.2:n.573G>T, NR_146128.1:n.599G>T, NM_001171713.1:c.523G>T, XR_007095659.1:n.798G>T, NP_036289.3:p.Gly243Cys, NP_001336250.1:p.Gly138Cys, NP_001336255.1:p.Gly138Cys, NP_001336254.1:p.Gly138Cys, NP_001336249.1:p.Gly138Cys, NP_001336248.1:p.Gly138Cys, NP_001336245.1:p.Gly243Cys, NP_001336253.1:p.Gly138Cys, NP_001336252.1:p.Gly138Cys, NP_001336251.1:p.Gly159Cys

                    10.

                    rs1467018803 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:33375369 (GRCh38)
                      3:33416861 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:33375368:C:T
                      Gene:
                      FBXL2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.33375369C>T, NC_000003.11:g.33416861C>T, NM_012157.5:c.739C>T, NM_012157.4:c.739C>T, NM_012157.3:c.739C>T, NR_146130.2:n.975C>T, NR_146130.1:n.1001C>T, NM_001349321.2:c.424C>T, NM_001349321.1:c.424C>T, NM_001349326.2:c.424C>T, NM_001349326.1:c.424C>T, NR_146134.2:n.904C>T, NR_146134.1:n.930C>T, NM_001349325.2:c.424C>T, NM_001349325.1:c.424C>T, NM_001349320.2:c.424C>T, NM_001349320.1:c.424C>T, NM_001349319.2:c.424C>T, NM_001349319.1:c.424C>T, NR_146131.2:n.904C>T, NR_146131.1:n.930C>T, NM_001349316.2:c.739C>T, NM_001349316.1:c.739C>T, NR_146122.2:n.902C>T, NR_146122.1:n.902C>T, NR_146135.2:n.897C>T, NR_146135.1:n.923C>T, NR_146126.2:n.888C>T, NR_146126.1:n.914C>T, NR_146133.2:n.860C>T, NR_146133.1:n.886C>T, NM_001349324.2:c.424C>T, NM_001349324.1:c.424C>T, NM_001349323.2:c.424C>T, NM_001349323.1:c.424C>T, NR_146121.2:n.808C>T, NR_146121.1:n.808C>T, NM_001349322.2:c.487C>T, NM_001349322.1:c.487C>T, NM_001171713.2:c.535C>T, NR_146123.2:n.904C>T, NR_146123.1:n.930C>T, NR_146132.2:n.810C>T, NR_146132.1:n.836C>T, NR_146124.2:n.829C>T, NR_146124.1:n.855C>T, NR_146125.2:n.904C>T, NR_146125.1:n.930C>T, NR_146129.2:n.861C>T, NR_146129.1:n.887C>T, NR_146127.2:n.810C>T, NR_146127.1:n.836C>T, NR_146128.2:n.585C>T, NR_146128.1:n.611C>T, NM_001171713.1:c.535C>T, XR_007095659.1:n.810C>T, NP_036289.3:p.Leu247Phe, NP_001336250.1:p.Leu142Phe, NP_001336255.1:p.Leu142Phe, NP_001336254.1:p.Leu142Phe, NP_001336249.1:p.Leu142Phe, NP_001336248.1:p.Leu142Phe, NP_001336245.1:p.Leu247Phe, NP_001336253.1:p.Leu142Phe, NP_001336252.1:p.Leu142Phe, NP_001336251.1:p.Leu163Phe

                      11.

                      rs1465636755 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        3:33375409 (GRCh38)
                        3:33416901 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:33375408:C:A,NC_000003.12:33375408:C:T
                        Gene:
                        FBXL2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.33375409C>A, NC_000003.12:g.33375409C>T, NC_000003.11:g.33416901C>A, NC_000003.11:g.33416901C>T, NM_012157.5:c.779C>A, NM_012157.5:c.779C>T, NM_012157.4:c.779C>A, NM_012157.4:c.779C>T, NM_012157.3:c.779C>A, NM_012157.3:c.779C>T, NR_146130.2:n.1015C>A, NR_146130.2:n.1015C>T, NR_146130.1:n.1041C>A, NR_146130.1:n.1041C>T, NM_001349321.2:c.464C>A, NM_001349321.2:c.464C>T, NM_001349321.1:c.464C>A, NM_001349321.1:c.464C>T, NM_001349326.2:c.464C>A, NM_001349326.2:c.464C>T, NM_001349326.1:c.464C>A, NM_001349326.1:c.464C>T, NR_146134.2:n.944C>A, NR_146134.2:n.944C>T, NR_146134.1:n.970C>A, NR_146134.1:n.970C>T, NM_001349325.2:c.464C>A, NM_001349325.2:c.464C>T, NM_001349325.1:c.464C>A, NM_001349325.1:c.464C>T, NM_001349320.2:c.464C>A, NM_001349320.2:c.464C>T, NM_001349320.1:c.464C>A, NM_001349320.1:c.464C>T, NM_001349319.2:c.464C>A, NM_001349319.2:c.464C>T, NM_001349319.1:c.464C>A, NM_001349319.1:c.464C>T, NR_146131.2:n.944C>A, NR_146131.2:n.944C>T, NR_146131.1:n.970C>A, NR_146131.1:n.970C>T, NM_001349316.2:c.779C>A, NM_001349316.2:c.779C>T, NM_001349316.1:c.779C>A, NM_001349316.1:c.779C>T, NR_146122.2:n.942C>A, NR_146122.2:n.942C>T, NR_146122.1:n.942C>A, NR_146122.1:n.942C>T, NR_146135.2:n.937C>A, NR_146135.2:n.937C>T, NR_146135.1:n.963C>A, NR_146135.1:n.963C>T, NR_146126.2:n.928C>A, NR_146126.2:n.928C>T, NR_146126.1:n.954C>A, NR_146126.1:n.954C>T, NR_146133.2:n.900C>A, NR_146133.2:n.900C>T, NR_146133.1:n.926C>A, NR_146133.1:n.926C>T, NM_001349324.2:c.464C>A, NM_001349324.2:c.464C>T, NM_001349324.1:c.464C>A, NM_001349324.1:c.464C>T, NM_001349323.2:c.464C>A, NM_001349323.2:c.464C>T, NM_001349323.1:c.464C>A, NM_001349323.1:c.464C>T, NR_146121.2:n.848C>A, NR_146121.2:n.848C>T, NR_146121.1:n.848C>A, NR_146121.1:n.848C>T, NM_001349322.2:c.527C>A, NM_001349322.2:c.527C>T, NM_001349322.1:c.527C>A, NM_001349322.1:c.527C>T, NM_001171713.2:c.575C>A, NM_001171713.2:c.575C>T, NR_146123.2:n.944C>A, NR_146123.2:n.944C>T, NR_146123.1:n.970C>A, NR_146123.1:n.970C>T, NR_146132.2:n.850C>A, NR_146132.2:n.850C>T, NR_146132.1:n.876C>A, NR_146132.1:n.876C>T, NR_146124.2:n.869C>A, NR_146124.2:n.869C>T, NR_146124.1:n.895C>A, NR_146124.1:n.895C>T, NR_146125.2:n.944C>A, NR_146125.2:n.944C>T, NR_146125.1:n.970C>A, NR_146125.1:n.970C>T, NR_146129.2:n.901C>A, NR_146129.2:n.901C>T, NR_146129.1:n.927C>A, NR_146129.1:n.927C>T, NR_146127.2:n.850C>A, NR_146127.2:n.850C>T, NR_146127.1:n.876C>A, NR_146127.1:n.876C>T, NR_146128.2:n.625C>A, NR_146128.2:n.625C>T, NR_146128.1:n.651C>A, NR_146128.1:n.651C>T, NM_001171713.1:c.575C>A, NM_001171713.1:c.575C>T, XR_007095659.1:n.850C>A, XR_007095659.1:n.850C>T, NP_036289.3:p.Pro260Gln, NP_036289.3:p.Pro260Leu, NP_001336250.1:p.Pro155Gln, NP_001336250.1:p.Pro155Leu, NP_001336255.1:p.Pro155Gln, NP_001336255.1:p.Pro155Leu, NP_001336254.1:p.Pro155Gln, NP_001336254.1:p.Pro155Leu, NP_001336249.1:p.Pro155Gln, NP_001336249.1:p.Pro155Leu, NP_001336248.1:p.Pro155Gln, NP_001336248.1:p.Pro155Leu, NP_001336245.1:p.Pro260Gln, NP_001336245.1:p.Pro260Leu, NP_001336253.1:p.Pro155Gln, NP_001336253.1:p.Pro155Leu, NP_001336252.1:p.Pro155Gln, NP_001336252.1:p.Pro155Leu, NP_001336251.1:p.Pro176Gln, NP_001336251.1:p.Pro176Leu

                        12.

                        rs1461292027 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          3:33385600 (GRCh38)
                          3:33427092 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:33385599:A:C
                          Gene:
                          FBXL2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000003.12:g.33385600A>C, NC_000003.11:g.33427092A>C, NM_012157.5:c.1264A>C, NM_012157.4:c.1264A>C, NM_012157.3:c.1264A>C, NR_146130.2:n.1593A>C, NR_146130.1:n.1619A>C, NM_001349321.2:c.1042A>C, NM_001349321.1:c.1042A>C, NM_001349326.2:c.949A>C, NM_001349326.1:c.949A>C, NR_146134.2:n.1522A>C, NR_146134.1:n.1548A>C, NM_001349325.2:c.949A>C, NM_001349325.1:c.949A>C, NM_001349320.2:c.1042A>C, NM_001349320.1:c.1042A>C, NM_001349319.2:c.1042A>C, NM_001349319.1:c.1042A>C, NR_146131.2:n.1429A>C, NR_146131.1:n.1455A>C, NM_001349316.2:c.1357A>C, NM_001349316.1:c.1357A>C, NR_146122.2:n.1427A>C, NR_146122.1:n.1427A>C, NR_146135.2:n.1422A>C, NR_146135.1:n.1448A>C, NR_146126.2:n.1413A>C, NR_146126.1:n.1439A>C, NR_146133.2:n.1385A>C, NR_146133.1:n.1411A>C, NM_001349324.2:c.949A>C, NM_001349324.1:c.949A>C, NM_001349323.2:c.949A>C, NM_001349323.1:c.949A>C, NR_146121.2:n.1333A>C, NR_146121.1:n.1333A>C, NM_001349322.2:c.1012A>C, NM_001349322.1:c.1012A>C, NM_001171713.2:c.1060A>C, NR_146123.2:n.1429A>C, NR_146123.1:n.1455A>C, NR_146132.2:n.1335A>C, NR_146132.1:n.1361A>C, NR_146124.2:n.1447A>C, NR_146124.1:n.1473A>C, NR_146125.2:n.1429A>C, NR_146125.1:n.1455A>C, NR_146129.2:n.1386A>C, NR_146129.1:n.1412A>C, NR_146127.2:n.1335A>C, NR_146127.1:n.1361A>C, NR_146128.2:n.1110A>C, NR_146128.1:n.1136A>C, NM_001171713.1:c.1060A>C, XR_007095659.1:n.1428A>C, NP_036289.3:p.Ile422Leu, NP_001336250.1:p.Ile348Leu, NP_001336255.1:p.Ile317Leu, NP_001336254.1:p.Ile317Leu, NP_001336249.1:p.Ile348Leu, NP_001336248.1:p.Ile348Leu, NP_001336245.1:p.Ile453Leu, NP_001336253.1:p.Ile317Leu, NP_001336252.1:p.Ile317Leu, NP_001336251.1:p.Ile338Leu

                          13.

                          rs1459784458 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:33377321 (GRCh38)
                            3:33418813 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:33377320:A:G
                            Gene:
                            FBXL2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000003.12:g.33377321A>G, NC_000003.11:g.33418813A>G, NM_012157.5:c.837A>G, NM_012157.4:c.837A>G, NM_012157.3:c.837A>G, NR_146130.2:n.1073A>G, NR_146130.1:n.1099A>G, NM_001349321.2:c.522A>G, NM_001349321.1:c.522A>G, NM_001349326.2:c.522A>G, NM_001349326.1:c.522A>G, NR_146134.2:n.1002A>G, NR_146134.1:n.1028A>G, NM_001349325.2:c.522A>G, NM_001349325.1:c.522A>G, NM_001349320.2:c.522A>G, NM_001349320.1:c.522A>G, NM_001349319.2:c.522A>G, NM_001349319.1:c.522A>G, NR_146131.2:n.1002A>G, NR_146131.1:n.1028A>G, NM_001349316.2:c.837A>G, NM_001349316.1:c.837A>G, NR_146122.2:n.1000A>G, NR_146122.1:n.1000A>G, NR_146135.2:n.995A>G, NR_146135.1:n.1021A>G, NR_146126.2:n.986A>G, NR_146126.1:n.1012A>G, NR_146133.2:n.958A>G, NR_146133.1:n.984A>G, NM_001349324.2:c.522A>G, NM_001349324.1:c.522A>G, NM_001349323.2:c.522A>G, NM_001349323.1:c.522A>G, NR_146121.2:n.906A>G, NR_146121.1:n.906A>G, NM_001349322.2:c.585A>G, NM_001349322.1:c.585A>G, NM_001171713.2:c.633A>G, NR_146123.2:n.1002A>G, NR_146123.1:n.1028A>G, NR_146132.2:n.908A>G, NR_146132.1:n.934A>G, NR_146124.2:n.927A>G, NR_146124.1:n.953A>G, NR_146125.2:n.1002A>G, NR_146125.1:n.1028A>G, NR_146129.2:n.959A>G, NR_146129.1:n.985A>G, NR_146127.2:n.908A>G, NR_146127.1:n.934A>G, NR_146128.2:n.683A>G, NR_146128.1:n.709A>G, NM_001171713.1:c.633A>G, XR_007095659.1:n.908A>G

                            14.

                            rs1458366610 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:33373869 (GRCh38)
                              3:33415361 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:33373868:A:G
                              Gene:
                              FBXL2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.33373869A>G, NC_000003.11:g.33415361A>G, NM_012157.5:c.605A>G, NM_012157.4:c.605A>G, NM_012157.3:c.605A>G, NR_146130.2:n.841A>G, NR_146130.1:n.867A>G, NM_001349321.2:c.290A>G, NM_001349321.1:c.290A>G, NM_001349326.2:c.290A>G, NM_001349326.1:c.290A>G, NR_146134.2:n.770A>G, NR_146134.1:n.796A>G, NM_001349325.2:c.290A>G, NM_001349325.1:c.290A>G, NM_001349320.2:c.290A>G, NM_001349320.1:c.290A>G, NM_001349319.2:c.290A>G, NM_001349319.1:c.290A>G, NR_146131.2:n.770A>G, NR_146131.1:n.796A>G, NM_001349316.2:c.605A>G, NM_001349316.1:c.605A>G, NR_146122.2:n.768A>G, NR_146122.1:n.768A>G, NR_146135.2:n.763A>G, NR_146135.1:n.789A>G, NR_146126.2:n.754A>G, NR_146126.1:n.780A>G, NR_146133.2:n.726A>G, NR_146133.1:n.752A>G, NM_001349324.2:c.290A>G, NM_001349324.1:c.290A>G, NM_001349323.2:c.290A>G, NM_001349323.1:c.290A>G, NR_146121.2:n.674A>G, NR_146121.1:n.674A>G, NM_001349322.2:c.353A>G, NM_001349322.1:c.353A>G, NM_001171713.2:c.401A>G, NR_146123.2:n.770A>G, NR_146123.1:n.796A>G, NR_146132.2:n.676A>G, NR_146132.1:n.702A>G, NR_146124.2:n.695A>G, NR_146124.1:n.721A>G, NR_146125.2:n.770A>G, NR_146125.1:n.796A>G, NR_146129.2:n.727A>G, NR_146129.1:n.753A>G, NR_146127.2:n.676A>G, NR_146127.1:n.702A>G, NR_146128.2:n.451A>G, NR_146128.1:n.477A>G, NM_001171713.1:c.401A>G, XR_007095659.1:n.676A>G, NP_036289.3:p.His202Arg, NP_001336250.1:p.His97Arg, NP_001336255.1:p.His97Arg, NP_001336254.1:p.His97Arg, NP_001336249.1:p.His97Arg, NP_001336248.1:p.His97Arg, NP_001336245.1:p.His202Arg, NP_001336253.1:p.His97Arg, NP_001336252.1:p.His97Arg, NP_001336251.1:p.His118Arg

                              15.

                              rs1457203939 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:33384016 (GRCh38)
                                3:33425508 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:33384015:G:A
                                Gene:
                                FBXL2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.33384016G>A, NC_000003.11:g.33425508G>A, NM_012157.5:c.979G>A, NM_012157.4:c.979G>A, NM_012157.3:c.979G>A, NR_146130.2:n.1308G>A, NR_146130.1:n.1334G>A, NM_001349321.2:c.757G>A, NM_001349321.1:c.757G>A, NM_001349326.2:c.664G>A, NM_001349326.1:c.664G>A, NR_146134.2:n.1237G>A, NR_146134.1:n.1263G>A, NM_001349325.2:c.664G>A, NM_001349325.1:c.664G>A, NM_001349320.2:c.757G>A, NM_001349320.1:c.757G>A, NM_001349319.2:c.757G>A, NM_001349319.1:c.757G>A, NR_146131.2:n.1144G>A, NR_146131.1:n.1170G>A, NM_001349316.2:c.1072G>A, NM_001349316.1:c.1072G>A, NR_146122.2:n.1142G>A, NR_146122.1:n.1142G>A, NR_146135.2:n.1137G>A, NR_146135.1:n.1163G>A, NR_146126.2:n.1128G>A, NR_146126.1:n.1154G>A, NR_146133.2:n.1100G>A, NR_146133.1:n.1126G>A, NM_001349324.2:c.664G>A, NM_001349324.1:c.664G>A, NM_001349323.2:c.664G>A, NM_001349323.1:c.664G>A, NR_146121.2:n.1048G>A, NR_146121.1:n.1048G>A, NM_001349322.2:c.727G>A, NM_001349322.1:c.727G>A, NM_001171713.2:c.775G>A, NR_146123.2:n.1144G>A, NR_146123.1:n.1170G>A, NR_146132.2:n.1050G>A, NR_146132.1:n.1076G>A, NR_146124.2:n.1162G>A, NR_146124.1:n.1188G>A, NR_146125.2:n.1144G>A, NR_146125.1:n.1170G>A, NR_146129.2:n.1101G>A, NR_146129.1:n.1127G>A, NR_146127.2:n.1050G>A, NR_146127.1:n.1076G>A, NR_146128.2:n.825G>A, NR_146128.1:n.851G>A, NM_001171713.1:c.775G>A, XR_007095659.1:n.1143G>A, NP_036289.3:p.Asp327Asn, NP_001336250.1:p.Asp253Asn, NP_001336255.1:p.Asp222Asn, NP_001336254.1:p.Asp222Asn, NP_001336249.1:p.Asp253Asn, NP_001336248.1:p.Asp253Asn, NP_001336245.1:p.Asp358Asn, NP_001336253.1:p.Asp222Asn, NP_001336252.1:p.Asp222Asn, NP_001336251.1:p.Asp243Asn

                                16.

                                rs1456700433 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  3:33384133 (GRCh38)
                                  3:33425625 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:33384132:C:G,NC_000003.12:33384132:C:T
                                  Gene:
                                  FBXL2 (Varview)
                                  Functional Consequence:
                                  stop_gained,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000051/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  T=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.33384133C>G, NC_000003.12:g.33384133C>T, NC_000003.11:g.33425625C>G, NC_000003.11:g.33425625C>T, NM_012157.5:c.1096C>G, NM_012157.5:c.1096C>T, NM_012157.4:c.1096C>G, NM_012157.4:c.1096C>T, NM_012157.3:c.1096C>G, NM_012157.3:c.1096C>T, NR_146130.2:n.1425C>G, NR_146130.2:n.1425C>T, NR_146130.1:n.1451C>G, NR_146130.1:n.1451C>T, NM_001349321.2:c.874C>G, NM_001349321.2:c.874C>T, NM_001349321.1:c.874C>G, NM_001349321.1:c.874C>T, NM_001349326.2:c.781C>G, NM_001349326.2:c.781C>T, NM_001349326.1:c.781C>G, NM_001349326.1:c.781C>T, NR_146134.2:n.1354C>G, NR_146134.2:n.1354C>T, NR_146134.1:n.1380C>G, NR_146134.1:n.1380C>T, NM_001349325.2:c.781C>G, NM_001349325.2:c.781C>T, NM_001349325.1:c.781C>G, NM_001349325.1:c.781C>T, NM_001349320.2:c.874C>G, NM_001349320.2:c.874C>T, NM_001349320.1:c.874C>G, NM_001349320.1:c.874C>T, NM_001349319.2:c.874C>G, NM_001349319.2:c.874C>T, NM_001349319.1:c.874C>G, NM_001349319.1:c.874C>T, NR_146131.2:n.1261C>G, NR_146131.2:n.1261C>T, NR_146131.1:n.1287C>G, NR_146131.1:n.1287C>T, NM_001349316.2:c.1189C>G, NM_001349316.2:c.1189C>T, NM_001349316.1:c.1189C>G, NM_001349316.1:c.1189C>T, NR_146122.2:n.1259C>G, NR_146122.2:n.1259C>T, NR_146122.1:n.1259C>G, NR_146122.1:n.1259C>T, NR_146135.2:n.1254C>G, NR_146135.2:n.1254C>T, NR_146135.1:n.1280C>G, NR_146135.1:n.1280C>T, NR_146126.2:n.1245C>G, NR_146126.2:n.1245C>T, NR_146126.1:n.1271C>G, NR_146126.1:n.1271C>T, NR_146133.2:n.1217C>G, NR_146133.2:n.1217C>T, NR_146133.1:n.1243C>G, NR_146133.1:n.1243C>T, NM_001349324.2:c.781C>G, NM_001349324.2:c.781C>T, NM_001349324.1:c.781C>G, NM_001349324.1:c.781C>T, NM_001349323.2:c.781C>G, NM_001349323.2:c.781C>T, NM_001349323.1:c.781C>G, NM_001349323.1:c.781C>T, NR_146121.2:n.1165C>G, NR_146121.2:n.1165C>T, NR_146121.1:n.1165C>G, NR_146121.1:n.1165C>T, NM_001349322.2:c.844C>G, NM_001349322.2:c.844C>T, NM_001349322.1:c.844C>G, NM_001349322.1:c.844C>T, NM_001171713.2:c.892C>G, NM_001171713.2:c.892C>T, NR_146123.2:n.1261C>G, NR_146123.2:n.1261C>T, NR_146123.1:n.1287C>G, NR_146123.1:n.1287C>T, NR_146132.2:n.1167C>G, NR_146132.2:n.1167C>T, NR_146132.1:n.1193C>G, NR_146132.1:n.1193C>T, NR_146124.2:n.1279C>G, NR_146124.2:n.1279C>T, NR_146124.1:n.1305C>G, NR_146124.1:n.1305C>T, NR_146125.2:n.1261C>G, NR_146125.2:n.1261C>T, NR_146125.1:n.1287C>G, NR_146125.1:n.1287C>T, NR_146129.2:n.1218C>G, NR_146129.2:n.1218C>T, NR_146129.1:n.1244C>G, NR_146129.1:n.1244C>T, NR_146127.2:n.1167C>G, NR_146127.2:n.1167C>T, NR_146127.1:n.1193C>G, NR_146127.1:n.1193C>T, NR_146128.2:n.942C>G, NR_146128.2:n.942C>T, NR_146128.1:n.968C>G, NR_146128.1:n.968C>T, NM_001171713.1:c.892C>G, NM_001171713.1:c.892C>T, XR_007095659.1:n.1260C>G, XR_007095659.1:n.1260C>T, NP_036289.3:p.Arg366Gly, NP_036289.3:p.Arg366Ter, NP_001336250.1:p.Arg292Gly, NP_001336250.1:p.Arg292Ter, NP_001336255.1:p.Arg261Gly, NP_001336255.1:p.Arg261Ter, NP_001336254.1:p.Arg261Gly, NP_001336254.1:p.Arg261Ter, NP_001336249.1:p.Arg292Gly, NP_001336249.1:p.Arg292Ter, NP_001336248.1:p.Arg292Gly, NP_001336248.1:p.Arg292Ter, NP_001336245.1:p.Arg397Gly, NP_001336245.1:p.Arg397Ter, NP_001336253.1:p.Arg261Gly, NP_001336253.1:p.Arg261Ter, NP_001336252.1:p.Arg261Gly, NP_001336252.1:p.Arg261Ter, NP_001336251.1:p.Arg282Gly, NP_001336251.1:p.Arg282Ter

                                  17.

                                  rs1448059940 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:33375350 (GRCh38)
                                    3:33416842 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:33375349:C:T
                                    Gene:
                                    FBXL2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000028/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.33375350C>T, NC_000003.11:g.33416842C>T, NM_012157.5:c.720C>T, NM_012157.4:c.720C>T, NM_012157.3:c.720C>T, NR_146130.2:n.956C>T, NR_146130.1:n.982C>T, NM_001349321.2:c.405C>T, NM_001349321.1:c.405C>T, NM_001349326.2:c.405C>T, NM_001349326.1:c.405C>T, NR_146134.2:n.885C>T, NR_146134.1:n.911C>T, NM_001349325.2:c.405C>T, NM_001349325.1:c.405C>T, NM_001349320.2:c.405C>T, NM_001349320.1:c.405C>T, NM_001349319.2:c.405C>T, NM_001349319.1:c.405C>T, NR_146131.2:n.885C>T, NR_146131.1:n.911C>T, NM_001349316.2:c.720C>T, NM_001349316.1:c.720C>T, NR_146122.2:n.883C>T, NR_146122.1:n.883C>T, NR_146135.2:n.878C>T, NR_146135.1:n.904C>T, NR_146126.2:n.869C>T, NR_146126.1:n.895C>T, NR_146133.2:n.841C>T, NR_146133.1:n.867C>T, NM_001349324.2:c.405C>T, NM_001349324.1:c.405C>T, NM_001349323.2:c.405C>T, NM_001349323.1:c.405C>T, NR_146121.2:n.789C>T, NR_146121.1:n.789C>T, NM_001349322.2:c.468C>T, NM_001349322.1:c.468C>T, NM_001171713.2:c.516C>T, NR_146123.2:n.885C>T, NR_146123.1:n.911C>T, NR_146132.2:n.791C>T, NR_146132.1:n.817C>T, NR_146124.2:n.810C>T, NR_146124.1:n.836C>T, NR_146125.2:n.885C>T, NR_146125.1:n.911C>T, NR_146129.2:n.842C>T, NR_146129.1:n.868C>T, NR_146127.2:n.791C>T, NR_146127.1:n.817C>T, NR_146128.2:n.566C>T, NR_146128.1:n.592C>T, NM_001171713.1:c.516C>T, XR_007095659.1:n.791C>T

                                    18.

                                    rs1444301295 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:33385506 (GRCh38)
                                      3:33426998 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:33385505:G:A
                                      Gene:
                                      FBXL2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000047/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.33385506G>A, NC_000003.11:g.33426998G>A, NM_012157.5:c.1170G>A, NM_012157.4:c.1170G>A, NM_012157.3:c.1170G>A, NR_146130.2:n.1499G>A, NR_146130.1:n.1525G>A, NM_001349321.2:c.948G>A, NM_001349321.1:c.948G>A, NM_001349326.2:c.855G>A, NM_001349326.1:c.855G>A, NR_146134.2:n.1428G>A, NR_146134.1:n.1454G>A, NM_001349325.2:c.855G>A, NM_001349325.1:c.855G>A, NM_001349320.2:c.948G>A, NM_001349320.1:c.948G>A, NM_001349319.2:c.948G>A, NM_001349319.1:c.948G>A, NR_146131.2:n.1335G>A, NR_146131.1:n.1361G>A, NM_001349316.2:c.1263G>A, NM_001349316.1:c.1263G>A, NR_146122.2:n.1333G>A, NR_146122.1:n.1333G>A, NR_146135.2:n.1328G>A, NR_146135.1:n.1354G>A, NR_146126.2:n.1319G>A, NR_146126.1:n.1345G>A, NR_146133.2:n.1291G>A, NR_146133.1:n.1317G>A, NM_001349324.2:c.855G>A, NM_001349324.1:c.855G>A, NM_001349323.2:c.855G>A, NM_001349323.1:c.855G>A, NR_146121.2:n.1239G>A, NR_146121.1:n.1239G>A, NM_001349322.2:c.918G>A, NM_001349322.1:c.918G>A, NM_001171713.2:c.966G>A, NR_146123.2:n.1335G>A, NR_146123.1:n.1361G>A, NR_146132.2:n.1241G>A, NR_146132.1:n.1267G>A, NR_146124.2:n.1353G>A, NR_146124.1:n.1379G>A, NR_146125.2:n.1335G>A, NR_146125.1:n.1361G>A, NR_146129.2:n.1292G>A, NR_146129.1:n.1318G>A, NR_146127.2:n.1241G>A, NR_146127.1:n.1267G>A, NR_146128.2:n.1016G>A, NR_146128.1:n.1042G>A, NM_001171713.1:c.966G>A, XR_007095659.1:n.1334G>A

                                      19.

                                      rs1439835474 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:33373645 (GRCh38)
                                        3:33415137 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:33373644:G:A
                                        Gene:
                                        FBXL2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.33373645G>A, NC_000003.11:g.33415137G>A, NM_012157.5:c.523G>A, NM_012157.4:c.523G>A, NM_012157.3:c.523G>A, NR_146130.2:n.759G>A, NR_146130.1:n.785G>A, NM_001349321.2:c.208G>A, NM_001349321.1:c.208G>A, NM_001349326.2:c.208G>A, NM_001349326.1:c.208G>A, NR_146134.2:n.688G>A, NR_146134.1:n.714G>A, NM_001349325.2:c.208G>A, NM_001349325.1:c.208G>A, NM_001349320.2:c.208G>A, NM_001349320.1:c.208G>A, NM_001349319.2:c.208G>A, NM_001349319.1:c.208G>A, NR_146131.2:n.688G>A, NR_146131.1:n.714G>A, NM_001349316.2:c.523G>A, NM_001349316.1:c.523G>A, NR_146122.2:n.686G>A, NR_146122.1:n.686G>A, NR_146135.2:n.681G>A, NR_146135.1:n.707G>A, NR_146126.2:n.672G>A, NR_146126.1:n.698G>A, NR_146133.2:n.644G>A, NR_146133.1:n.670G>A, NM_001349324.2:c.208G>A, NM_001349324.1:c.208G>A, NM_001349323.2:c.208G>A, NM_001349323.1:c.208G>A, NR_146121.2:n.592G>A, NR_146121.1:n.592G>A, NM_001349322.2:c.271G>A, NM_001349322.1:c.271G>A, NR_146123.2:n.688G>A, NR_146123.1:n.714G>A, NR_146132.2:n.594G>A, NR_146132.1:n.620G>A, NR_146124.2:n.613G>A, NR_146124.1:n.639G>A, NR_146125.2:n.688G>A, NR_146125.1:n.714G>A, NR_146129.2:n.645G>A, NR_146129.1:n.671G>A, NR_146127.2:n.594G>A, NR_146127.1:n.620G>A, NR_146128.2:n.369G>A, NR_146128.1:n.395G>A, XR_007095659.1:n.594G>A, NP_036289.3:p.Glu175Lys, NP_001336250.1:p.Glu70Lys, NP_001336255.1:p.Glu70Lys, NP_001336254.1:p.Glu70Lys, NP_001336249.1:p.Glu70Lys, NP_001336248.1:p.Glu70Lys, NP_001336245.1:p.Glu175Lys, NP_001336253.1:p.Glu70Lys, NP_001336252.1:p.Glu70Lys, NP_001336251.1:p.Glu91Lys

                                        20.

                                        rs1438738163 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          3:33378726 (GRCh38)
                                          3:33420219 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:33378726:AAA:AAAA
                                          Gene:
                                          FBXL2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAA=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.33378729dup, NC_000003.11:g.33420221dup, NM_012157.5:c.939dup, NM_012157.4:c.939dup, NM_012157.3:c.939dup, NR_146130.2:n.1175dup, NR_146130.1:n.1201dup, NM_001349321.2:c.624dup, NM_001349321.1:c.624dup, NM_001349326.2:c.624dup, NM_001349326.1:c.624dup, NR_146134.2:n.1104dup, NR_146134.1:n.1130dup, NM_001349325.2:c.624dup, NM_001349325.1:c.624dup, NM_001349320.2:c.624dup, NM_001349320.1:c.624dup, NM_001349319.2:c.624dup, NM_001349319.1:c.624dup, NR_146131.2:n.1104dup, NR_146131.1:n.1130dup, NM_001349316.2:c.939dup, NM_001349316.1:c.939dup, NR_146122.2:n.1102dup, NR_146122.1:n.1102dup, NR_146135.2:n.1097dup, NR_146135.1:n.1123dup, NR_146126.2:n.1088dup, NR_146126.1:n.1114dup, NR_146133.2:n.1060dup, NR_146133.1:n.1086dup, NM_001349324.2:c.624dup, NM_001349324.1:c.624dup, NM_001349323.2:c.624dup, NM_001349323.1:c.624dup, NR_146121.2:n.1008dup, NR_146121.1:n.1008dup, NM_001349322.2:c.687dup, NM_001349322.1:c.687dup, NM_001171713.2:c.735dup, NR_146123.2:n.1104dup, NR_146123.1:n.1130dup, NR_146132.2:n.1010dup, NR_146132.1:n.1036dup, NR_146124.2:n.1029dup, NR_146124.1:n.1055dup, NR_146125.2:n.1104dup, NR_146125.1:n.1130dup, NR_146129.2:n.1061dup, NR_146129.1:n.1087dup, NR_146127.2:n.1010dup, NR_146127.1:n.1036dup, NR_146128.2:n.785dup, NR_146128.1:n.811dup, NM_001171713.1:c.735dup, XR_007095659.1:n.1010dup, NP_036289.3:p.Leu314fs, NP_001336250.1:p.Leu209fs, NP_001336255.1:p.Leu209fs, NP_001336254.1:p.Leu209fs, NP_001336249.1:p.Leu209fs, NP_001336248.1:p.Leu209fs, NP_001336245.1:p.Leu314fs, NP_001336253.1:p.Leu209fs, NP_001336252.1:p.Leu209fs, NP_001336251.1:p.Leu230fs

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