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Items: 1 to 20 of 522

1.

rs1490312764 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    4:15625566 (GRCh38)
    4:15627189 (GRCh37)
    Canonical SPDI:
    NC_000004.12:15625565:G:A,NC_000004.12:15625565:G:T
    Gene:
    FBXL5 (Varview)
    Functional Consequence:
    synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    G=0.5/1 (SGDP_PRJ)
    HGVS:
    NC_000004.12:g.15625566G>A, NC_000004.12:g.15625566G>T, NC_000004.11:g.15627189G>A, NC_000004.11:g.15627189G>T, NG_047143.1:g.39352C>T, NG_047143.1:g.39352C>A, NM_012161.4:c.1536C>T, NM_012161.4:c.1536C>A, NM_012161.3:c.1536C>T, NM_012161.3:c.1536C>A, NR_036464.2:n.1710C>T, NR_036464.2:n.1710C>A, NR_036464.1:n.1765C>T, NR_036464.1:n.1765C>A, NM_001193534.2:c.1533C>T, NM_001193534.2:c.1533C>A, NM_001193534.1:c.1533C>T, NM_001193534.1:c.1533C>A, NM_001193535.2:c.1485C>T, NM_001193535.2:c.1485C>A, NM_001193535.1:c.1485C>T, NM_001193535.1:c.1485C>A, XM_006713959.4:c.1479C>T, XM_006713959.4:c.1479C>A, XM_006713959.3:c.1479C>T, XM_006713959.3:c.1479C>A, XM_006713959.2:c.1479C>T, XM_006713959.2:c.1479C>A, XM_006713959.1:c.1479C>T, XM_006713959.1:c.1479C>A, XM_017008019.3:c.1371C>T, XM_017008019.3:c.1371C>A, XM_017008019.2:c.1371C>T, XM_017008019.2:c.1371C>A, XM_017008019.1:c.1371C>T, XM_017008019.1:c.1371C>A, XM_011513831.3:c.1428C>T, XM_011513831.3:c.1428C>A, XM_011513831.2:c.1428C>T, XM_011513831.2:c.1428C>A, XM_011513831.1:c.1428C>T, XM_011513831.1:c.1428C>A, XM_011513833.3:c.1320C>T, XM_011513833.3:c.1320C>A, XM_011513833.2:c.1320C>T, XM_011513833.2:c.1320C>A, XM_011513833.1:c.1320C>T, XM_011513833.1:c.1320C>A, NM_033535.2:c.1158C>T, NM_033535.2:c.1158C>A, XM_047450052.1:c.1479C>T, XM_047450052.1:c.1479C>A, XM_047450051.1:c.1479C>T, XM_047450051.1:c.1479C>A, XM_047450060.1:c.1428C>T, XM_047450060.1:c.1428C>A, XM_047450050.1:c.1479C>T, XM_047450050.1:c.1479C>A, XM_047450061.1:c.1371C>T, XM_047450061.1:c.1371C>A, XM_047450049.1:c.1479C>T, XM_047450049.1:c.1479C>A, XM_047450053.1:c.1479C>T, XM_047450053.1:c.1479C>A, XM_047450054.1:c.1479C>T, XM_047450054.1:c.1479C>A, XM_047450057.1:c.1428C>T, XM_047450057.1:c.1428C>A, XM_047450058.1:c.1428C>T, XM_047450058.1:c.1428C>A, XM_047450055.1:c.1479C>T, XM_047450055.1:c.1479C>A, XM_047450056.1:c.1479C>T, XM_047450056.1:c.1479C>A, XM_047450059.1:c.1428C>T, XM_047450059.1:c.1428C>A, NM_033535.1:c.1158C>T, NM_033535.1:c.1158C>A, NP_036293.1:p.Asn512Lys, NP_001180463.1:p.Asn511Lys, NP_001180464.1:p.Asn495Lys, XP_006714022.1:p.Asn493Lys, XP_016863508.1:p.Asn457Lys, XP_011512133.1:p.Asn476Lys, XP_011512135.1:p.Asn440Lys, XP_047306008.1:p.Asn493Lys, XP_047306007.1:p.Asn493Lys, XP_047306016.1:p.Asn476Lys, XP_047306006.1:p.Asn493Lys, XP_047306017.1:p.Asn457Lys, XP_047306005.1:p.Asn493Lys, XP_047306009.1:p.Asn493Lys, XP_047306010.1:p.Asn493Lys, XP_047306013.1:p.Asn476Lys, XP_047306014.1:p.Asn476Lys, XP_047306011.1:p.Asn493Lys, XP_047306012.1:p.Asn493Lys, XP_047306015.1:p.Asn476Lys

    2.

    rs1489914963 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      4:15626927 (GRCh38)
      4:15628550 (GRCh37)
      Canonical SPDI:
      NC_000004.12:15626926:T:A
      Gene:
      FBXL5 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      NC_000004.12:g.15626927T>A, NC_000004.11:g.15628550T>A, NG_047143.1:g.37991A>T, NM_012161.4:c.1070A>T, NM_012161.3:c.1070A>T, NR_036464.2:n.1244A>T, NR_036464.1:n.1299A>T, NM_001193534.2:c.1067A>T, NM_001193534.1:c.1067A>T, NM_001193535.2:c.1019A>T, NM_001193535.1:c.1019A>T, XM_006713959.4:c.1013A>T, XM_006713959.3:c.1013A>T, XM_006713959.2:c.1013A>T, XM_006713959.1:c.1013A>T, XM_017008019.3:c.905A>T, XM_017008019.2:c.905A>T, XM_017008019.1:c.905A>T, XM_011513831.3:c.962A>T, XM_011513831.2:c.962A>T, XM_011513831.1:c.962A>T, XM_011513833.3:c.854A>T, XM_011513833.2:c.854A>T, XM_011513833.1:c.854A>T, NM_033535.2:c.692A>T, XM_047450052.1:c.1013A>T, XM_047450051.1:c.1013A>T, XM_047450060.1:c.962A>T, XM_047450050.1:c.1013A>T, XM_047450061.1:c.905A>T, XM_047450049.1:c.1013A>T, XM_047450053.1:c.1013A>T, XM_047450054.1:c.1013A>T, XM_047450057.1:c.962A>T, XM_047450058.1:c.962A>T, XM_047450055.1:c.1013A>T, XM_047450056.1:c.1013A>T, XM_047450059.1:c.962A>T, NM_033535.1:c.692A>T, NP_036293.1:p.Asn357Ile, NP_001180463.1:p.Asn356Ile, NP_001180464.1:p.Asn340Ile, XP_006714022.1:p.Asn338Ile, XP_016863508.1:p.Asn302Ile, XP_011512133.1:p.Asn321Ile, XP_011512135.1:p.Asn285Ile, XP_047306008.1:p.Asn338Ile, XP_047306007.1:p.Asn338Ile, XP_047306016.1:p.Asn321Ile, XP_047306006.1:p.Asn338Ile, XP_047306017.1:p.Asn302Ile, XP_047306005.1:p.Asn338Ile, XP_047306009.1:p.Asn338Ile, XP_047306010.1:p.Asn338Ile, XP_047306013.1:p.Asn321Ile, XP_047306014.1:p.Asn321Ile, XP_047306011.1:p.Asn338Ile, XP_047306012.1:p.Asn338Ile, XP_047306015.1:p.Asn321Ile

      3.

      rs1486254739 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:15625670 (GRCh38)
        4:15627293 (GRCh37)
        Canonical SPDI:
        NC_000004.12:15625669:A:G
        Gene:
        FBXL5 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000111/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.15625670A>G, NC_000004.11:g.15627293A>G, NG_047143.1:g.39248T>C, NM_012161.4:c.1432T>C, NM_012161.3:c.1432T>C, NR_036464.2:n.1606T>C, NR_036464.1:n.1661T>C, NM_001193534.2:c.1429T>C, NM_001193534.1:c.1429T>C, NM_001193535.2:c.1381T>C, NM_001193535.1:c.1381T>C, XM_006713959.4:c.1375T>C, XM_006713959.3:c.1375T>C, XM_006713959.2:c.1375T>C, XM_006713959.1:c.1375T>C, XM_017008019.3:c.1267T>C, XM_017008019.2:c.1267T>C, XM_017008019.1:c.1267T>C, XM_011513831.3:c.1324T>C, XM_011513831.2:c.1324T>C, XM_011513831.1:c.1324T>C, XM_011513833.3:c.1216T>C, XM_011513833.2:c.1216T>C, XM_011513833.1:c.1216T>C, NM_033535.2:c.1054T>C, XM_047450052.1:c.1375T>C, XM_047450051.1:c.1375T>C, XM_047450060.1:c.1324T>C, XM_047450050.1:c.1375T>C, XM_047450061.1:c.1267T>C, XM_047450049.1:c.1375T>C, XM_047450053.1:c.1375T>C, XM_047450054.1:c.1375T>C, XM_047450057.1:c.1324T>C, XM_047450058.1:c.1324T>C, XM_047450055.1:c.1375T>C, XM_047450056.1:c.1375T>C, XM_047450059.1:c.1324T>C, NM_033535.1:c.1054T>C, NP_036293.1:p.Tyr478His, NP_001180463.1:p.Tyr477His, NP_001180464.1:p.Tyr461His, XP_006714022.1:p.Tyr459His, XP_016863508.1:p.Tyr423His, XP_011512133.1:p.Tyr442His, XP_011512135.1:p.Tyr406His, XP_047306008.1:p.Tyr459His, XP_047306007.1:p.Tyr459His, XP_047306016.1:p.Tyr442His, XP_047306006.1:p.Tyr459His, XP_047306017.1:p.Tyr423His, XP_047306005.1:p.Tyr459His, XP_047306009.1:p.Tyr459His, XP_047306010.1:p.Tyr459His, XP_047306013.1:p.Tyr442His, XP_047306014.1:p.Tyr442His, XP_047306011.1:p.Tyr459His, XP_047306012.1:p.Tyr459His, XP_047306015.1:p.Tyr442His

        4.

        rs1484259496 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          4:15625761 (GRCh38)
          4:15627384 (GRCh37)
          Canonical SPDI:
          NC_000004.12:15625760:C:T
          Gene:
          FBXL5 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,non_coding_transcript_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)
          HGVS:
          NC_000004.12:g.15625761C>T, NC_000004.11:g.15627384C>T, NG_047143.1:g.39157G>A, NM_012161.4:c.1341G>A, NM_012161.3:c.1341G>A, NR_036464.2:n.1515G>A, NR_036464.1:n.1570G>A, NM_001193534.2:c.1338G>A, NM_001193534.1:c.1338G>A, NM_001193535.2:c.1290G>A, NM_001193535.1:c.1290G>A, XM_006713959.4:c.1284G>A, XM_006713959.3:c.1284G>A, XM_006713959.2:c.1284G>A, XM_006713959.1:c.1284G>A, XM_017008019.3:c.1176G>A, XM_017008019.2:c.1176G>A, XM_017008019.1:c.1176G>A, XM_011513831.3:c.1233G>A, XM_011513831.2:c.1233G>A, XM_011513831.1:c.1233G>A, XM_011513833.3:c.1125G>A, XM_011513833.2:c.1125G>A, XM_011513833.1:c.1125G>A, NM_033535.2:c.963G>A, XM_047450052.1:c.1284G>A, XM_047450051.1:c.1284G>A, XM_047450060.1:c.1233G>A, XM_047450050.1:c.1284G>A, XM_047450061.1:c.1176G>A, XM_047450049.1:c.1284G>A, XM_047450053.1:c.1284G>A, XM_047450054.1:c.1284G>A, XM_047450057.1:c.1233G>A, XM_047450058.1:c.1233G>A, XM_047450055.1:c.1284G>A, XM_047450056.1:c.1284G>A, XM_047450059.1:c.1233G>A, NM_033535.1:c.963G>A

          5.

          rs1484085746 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            4:15655279 (GRCh38)
            4:15656902 (GRCh37)
            Canonical SPDI:
            NC_000004.12:15655278:G:A,NC_000004.12:15655278:G:C
            Gene:
            FBXL5 (Varview), FAM200B (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000031/1 (ALFA)
            C=0.000007/1 (GnomAD)
            A=0.000017/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1482394975 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              4:15627954 (GRCh38)
              4:15629577 (GRCh37)
              Canonical SPDI:
              NC_000004.12:15627953:A:G
              Gene:
              FBXL5 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.15627954A>G, NC_000004.11:g.15629577A>G, NG_047143.1:g.36964T>C, NM_012161.4:c.972T>C, NM_012161.3:c.972T>C, NR_036464.2:n.1146T>C, NR_036464.1:n.1201T>C, NM_001193534.2:c.969T>C, NM_001193534.1:c.969T>C, NM_001193535.2:c.921T>C, NM_001193535.1:c.921T>C, XM_006713959.4:c.915T>C, XM_006713959.3:c.915T>C, XM_006713959.2:c.915T>C, XM_006713959.1:c.915T>C, XM_017008019.3:c.807T>C, XM_017008019.2:c.807T>C, XM_017008019.1:c.807T>C, XM_011513831.3:c.864T>C, XM_011513831.2:c.864T>C, XM_011513831.1:c.864T>C, XM_011513833.3:c.756T>C, XM_011513833.2:c.756T>C, XM_011513833.1:c.756T>C, NM_033535.2:c.594T>C, XM_047450052.1:c.915T>C, XM_047450051.1:c.915T>C, XM_047450060.1:c.864T>C, XM_047450050.1:c.915T>C, XM_047450061.1:c.807T>C, XM_047450049.1:c.915T>C, XM_047450053.1:c.915T>C, XM_047450054.1:c.915T>C, XM_047450057.1:c.864T>C, XM_047450058.1:c.864T>C, XM_047450055.1:c.915T>C, XM_047450056.1:c.915T>C, XM_047450059.1:c.864T>C, NM_033535.1:c.594T>C

              7.

              rs1481844308 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                4:15627944 (GRCh38)
                4:15629567 (GRCh37)
                Canonical SPDI:
                NC_000004.12:15627943:C:A,NC_000004.12:15627943:C:T
                Gene:
                FBXL5 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000111/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                T=0.000342/1 (KOREAN)
                C=0.5/1 (SGDP_PRJ)
                HGVS:
                NC_000004.12:g.15627944C>A, NC_000004.12:g.15627944C>T, NC_000004.11:g.15629567C>A, NC_000004.11:g.15629567C>T, NG_047143.1:g.36974G>T, NG_047143.1:g.36974G>A, NM_012161.4:c.982G>T, NM_012161.4:c.982G>A, NM_012161.3:c.982G>T, NM_012161.3:c.982G>A, NR_036464.2:n.1156G>T, NR_036464.2:n.1156G>A, NR_036464.1:n.1211G>T, NR_036464.1:n.1211G>A, NM_001193534.2:c.979G>T, NM_001193534.2:c.979G>A, NM_001193534.1:c.979G>T, NM_001193534.1:c.979G>A, NM_001193535.2:c.931G>T, NM_001193535.2:c.931G>A, NM_001193535.1:c.931G>T, NM_001193535.1:c.931G>A, XM_006713959.4:c.925G>T, XM_006713959.4:c.925G>A, XM_006713959.3:c.925G>T, XM_006713959.3:c.925G>A, XM_006713959.2:c.925G>T, XM_006713959.2:c.925G>A, XM_006713959.1:c.925G>T, XM_006713959.1:c.925G>A, XM_017008019.3:c.817G>T, XM_017008019.3:c.817G>A, XM_017008019.2:c.817G>T, XM_017008019.2:c.817G>A, XM_017008019.1:c.817G>T, XM_017008019.1:c.817G>A, XM_011513831.3:c.874G>T, XM_011513831.3:c.874G>A, XM_011513831.2:c.874G>T, XM_011513831.2:c.874G>A, XM_011513831.1:c.874G>T, XM_011513831.1:c.874G>A, XM_011513833.3:c.766G>T, XM_011513833.3:c.766G>A, XM_011513833.2:c.766G>T, XM_011513833.2:c.766G>A, XM_011513833.1:c.766G>T, XM_011513833.1:c.766G>A, NM_033535.2:c.604G>T, NM_033535.2:c.604G>A, XM_047450052.1:c.925G>T, XM_047450052.1:c.925G>A, XM_047450051.1:c.925G>T, XM_047450051.1:c.925G>A, XM_047450060.1:c.874G>T, XM_047450060.1:c.874G>A, XM_047450050.1:c.925G>T, XM_047450050.1:c.925G>A, XM_047450061.1:c.817G>T, XM_047450061.1:c.817G>A, XM_047450049.1:c.925G>T, XM_047450049.1:c.925G>A, XM_047450053.1:c.925G>T, XM_047450053.1:c.925G>A, XM_047450054.1:c.925G>T, XM_047450054.1:c.925G>A, XM_047450057.1:c.874G>T, XM_047450057.1:c.874G>A, XM_047450058.1:c.874G>T, XM_047450058.1:c.874G>A, XM_047450055.1:c.925G>T, XM_047450055.1:c.925G>A, XM_047450056.1:c.925G>T, XM_047450056.1:c.925G>A, XM_047450059.1:c.874G>T, XM_047450059.1:c.874G>A, NM_033535.1:c.604G>T, NM_033535.1:c.604G>A, NP_036293.1:p.Val328Phe, NP_036293.1:p.Val328Ile, NP_001180463.1:p.Val327Phe, NP_001180463.1:p.Val327Ile, NP_001180464.1:p.Val311Phe, NP_001180464.1:p.Val311Ile, XP_006714022.1:p.Val309Phe, XP_006714022.1:p.Val309Ile, XP_016863508.1:p.Val273Phe, XP_016863508.1:p.Val273Ile, XP_011512133.1:p.Val292Phe, XP_011512133.1:p.Val292Ile, XP_011512135.1:p.Val256Phe, XP_011512135.1:p.Val256Ile, XP_047306008.1:p.Val309Phe, XP_047306008.1:p.Val309Ile, XP_047306007.1:p.Val309Phe, XP_047306007.1:p.Val309Ile, XP_047306016.1:p.Val292Phe, XP_047306016.1:p.Val292Ile, XP_047306006.1:p.Val309Phe, XP_047306006.1:p.Val309Ile, XP_047306017.1:p.Val273Phe, XP_047306017.1:p.Val273Ile, XP_047306005.1:p.Val309Phe, XP_047306005.1:p.Val309Ile, XP_047306009.1:p.Val309Phe, XP_047306009.1:p.Val309Ile, XP_047306010.1:p.Val309Phe, XP_047306010.1:p.Val309Ile, XP_047306013.1:p.Val292Phe, XP_047306013.1:p.Val292Ile, XP_047306014.1:p.Val292Phe, XP_047306014.1:p.Val292Ile, XP_047306011.1:p.Val309Phe, XP_047306011.1:p.Val309Ile, XP_047306012.1:p.Val309Phe, XP_047306012.1:p.Val309Ile, XP_047306015.1:p.Val292Phe, XP_047306015.1:p.Val292Ile

                8.

                rs1481164229 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:15625402 (GRCh38)
                  4:15627025 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:15625401:G:A
                  Gene:
                  FBXL5 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000004.12:g.15625402G>A, NC_000004.11:g.15627025G>A, NG_047143.1:g.39516C>T, NM_012161.4:c.1700C>T, NM_012161.3:c.1700C>T, NR_036464.2:n.1874C>T, NR_036464.1:n.1929C>T, NM_001193534.2:c.1697C>T, NM_001193534.1:c.1697C>T, NM_001193535.2:c.1649C>T, NM_001193535.1:c.1649C>T, XM_006713959.4:c.1643C>T, XM_006713959.3:c.1643C>T, XM_006713959.2:c.1643C>T, XM_006713959.1:c.1643C>T, XM_017008019.3:c.1535C>T, XM_017008019.2:c.1535C>T, XM_017008019.1:c.1535C>T, XM_011513831.3:c.1592C>T, XM_011513831.2:c.1592C>T, XM_011513831.1:c.1592C>T, XM_011513833.3:c.1484C>T, XM_011513833.2:c.1484C>T, XM_011513833.1:c.1484C>T, NM_033535.2:c.1322C>T, XM_047450052.1:c.1643C>T, XM_047450051.1:c.1643C>T, XM_047450060.1:c.1592C>T, XM_047450050.1:c.1643C>T, XM_047450061.1:c.1535C>T, XM_047450049.1:c.1643C>T, XM_047450053.1:c.1643C>T, XM_047450054.1:c.1643C>T, XM_047450057.1:c.1592C>T, XM_047450058.1:c.1592C>T, XM_047450055.1:c.1643C>T, XM_047450056.1:c.1643C>T, XM_047450059.1:c.1592C>T, NM_033535.1:c.1322C>T, NP_036293.1:p.Ser567Phe, NP_001180463.1:p.Ser566Phe, NP_001180464.1:p.Ser550Phe, XP_006714022.1:p.Ser548Phe, XP_016863508.1:p.Ser512Phe, XP_011512133.1:p.Ser531Phe, XP_011512135.1:p.Ser495Phe, XP_047306008.1:p.Ser548Phe, XP_047306007.1:p.Ser548Phe, XP_047306016.1:p.Ser531Phe, XP_047306006.1:p.Ser548Phe, XP_047306017.1:p.Ser512Phe, XP_047306005.1:p.Ser548Phe, XP_047306009.1:p.Ser548Phe, XP_047306010.1:p.Ser548Phe, XP_047306013.1:p.Ser531Phe, XP_047306014.1:p.Ser531Phe, XP_047306011.1:p.Ser548Phe, XP_047306012.1:p.Ser548Phe, XP_047306015.1:p.Ser531Phe

                  9.

                  rs1478223443 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    4:15625564 (GRCh38)
                    4:15627187 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:15625563:A:C
                    Gene:
                    FBXL5 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000224/1 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000223/1 (Estonian)
                    HGVS:
                    NC_000004.12:g.15625564A>C, NC_000004.11:g.15627187A>C, NG_047143.1:g.39354T>G, NM_012161.4:c.1538T>G, NM_012161.3:c.1538T>G, NR_036464.2:n.1712T>G, NR_036464.1:n.1767T>G, NM_001193534.2:c.1535T>G, NM_001193534.1:c.1535T>G, NM_001193535.2:c.1487T>G, NM_001193535.1:c.1487T>G, XM_006713959.4:c.1481T>G, XM_006713959.3:c.1481T>G, XM_006713959.2:c.1481T>G, XM_006713959.1:c.1481T>G, XM_017008019.3:c.1373T>G, XM_017008019.2:c.1373T>G, XM_017008019.1:c.1373T>G, XM_011513831.3:c.1430T>G, XM_011513831.2:c.1430T>G, XM_011513831.1:c.1430T>G, XM_011513833.3:c.1322T>G, XM_011513833.2:c.1322T>G, XM_011513833.1:c.1322T>G, NM_033535.2:c.1160T>G, XM_047450052.1:c.1481T>G, XM_047450051.1:c.1481T>G, XM_047450060.1:c.1430T>G, XM_047450050.1:c.1481T>G, XM_047450061.1:c.1373T>G, XM_047450049.1:c.1481T>G, XM_047450053.1:c.1481T>G, XM_047450054.1:c.1481T>G, XM_047450057.1:c.1430T>G, XM_047450058.1:c.1430T>G, XM_047450055.1:c.1481T>G, XM_047450056.1:c.1481T>G, XM_047450059.1:c.1430T>G, NM_033535.1:c.1160T>G, NP_036293.1:p.Phe513Cys, NP_001180463.1:p.Phe512Cys, NP_001180464.1:p.Phe496Cys, XP_006714022.1:p.Phe494Cys, XP_016863508.1:p.Phe458Cys, XP_011512133.1:p.Phe477Cys, XP_011512135.1:p.Phe441Cys, XP_047306008.1:p.Phe494Cys, XP_047306007.1:p.Phe494Cys, XP_047306016.1:p.Phe477Cys, XP_047306006.1:p.Phe494Cys, XP_047306017.1:p.Phe458Cys, XP_047306005.1:p.Phe494Cys, XP_047306009.1:p.Phe494Cys, XP_047306010.1:p.Phe494Cys, XP_047306013.1:p.Phe477Cys, XP_047306014.1:p.Phe477Cys, XP_047306011.1:p.Phe494Cys, XP_047306012.1:p.Phe494Cys, XP_047306015.1:p.Phe477Cys

                    10.

                    rs1467757011 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:15612282 (GRCh38)
                      4:15613905 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:15612281:G:A
                      Gene:
                      FBXL5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.15612282G>A, NC_000004.11:g.15613905G>A, NG_047143.1:g.52636C>T, NM_012161.4:c.1983C>T, NM_012161.3:c.1983C>T, NR_036464.2:n.2157C>T, NR_036464.1:n.2212C>T, NM_001193534.2:c.1980C>T, NM_001193534.1:c.1980C>T, NM_001193535.2:c.1932C>T, NM_001193535.1:c.1932C>T, XM_006713959.4:c.1926C>T, XM_006713959.3:c.1926C>T, XM_006713959.2:c.1926C>T, XM_006713959.1:c.1926C>T, XM_017008019.3:c.1818C>T, XM_017008019.2:c.1818C>T, XM_017008019.1:c.1818C>T, XM_011513831.3:c.1875C>T, XM_011513831.2:c.1875C>T, XM_011513831.1:c.1875C>T, XM_011513833.3:c.1767C>T, XM_011513833.2:c.1767C>T, XM_011513833.1:c.1767C>T, NM_033535.2:c.1605C>T, XM_047450052.1:c.1926C>T, XM_047450051.1:c.1926C>T, XM_047450060.1:c.1875C>T, XM_047450050.1:c.1926C>T, XM_047450061.1:c.1818C>T, XM_047450049.1:c.1926C>T, XM_047450053.1:c.1926C>T, XM_047450054.1:c.1926C>T, XM_047450057.1:c.1875C>T, XM_047450058.1:c.1875C>T, XM_047450055.1:c.1926C>T, XM_047450056.1:c.1926C>T, XM_047450059.1:c.1875C>T, NM_033535.1:c.1605C>T

                      11.

                      rs1462015743 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:15638574 (GRCh38)
                        4:15640197 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:15638573:G:A
                        Gene:
                        FBXL5 (Varview), FAM200B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
                        HGVS:
                        NC_000004.12:g.15638574G>A, NC_000004.11:g.15640197G>A, NG_047143.1:g.26344C>T, NM_012161.4:c.517C>T, NM_012161.3:c.517C>T, NR_036464.2:n.691C>T, NR_036464.1:n.746C>T, NM_001193534.2:c.517C>T, NM_001193534.1:c.517C>T, NM_001193535.2:c.466C>T, NM_001193535.1:c.466C>T, XM_006713959.4:c.460C>T, XM_006713959.3:c.460C>T, XM_006713959.2:c.460C>T, XM_006713959.1:c.460C>T, XM_017008019.3:c.352C>T, XM_017008019.2:c.352C>T, XM_017008019.1:c.352C>T, XM_011513831.3:c.409C>T, XM_011513831.2:c.409C>T, XM_011513831.1:c.409C>T, XM_011513833.3:c.301C>T, XM_011513833.2:c.301C>T, XM_011513833.1:c.301C>T, NM_033535.2:c.139C>T, XM_047450052.1:c.460C>T, XM_047450051.1:c.460C>T, XM_047450060.1:c.409C>T, XM_047450050.1:c.460C>T, XM_047450061.1:c.352C>T, XM_047450049.1:c.460C>T, XM_047450053.1:c.460C>T, XM_047450054.1:c.460C>T, XM_047450057.1:c.409C>T, XM_047450058.1:c.409C>T, XM_047450055.1:c.460C>T, XM_047450056.1:c.460C>T, XM_047450059.1:c.409C>T, NM_033535.1:c.139C>T

                        12.

                        rs1461575374 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:15625668 (GRCh38)
                          4:15627291 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:15625667:A:G
                          Gene:
                          FBXL5 (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=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.15625668A>G, NC_000004.11:g.15627291A>G, NG_047143.1:g.39250T>C, NM_012161.4:c.1434T>C, NM_012161.3:c.1434T>C, NR_036464.2:n.1608T>C, NR_036464.1:n.1663T>C, NM_001193534.2:c.1431T>C, NM_001193534.1:c.1431T>C, NM_001193535.2:c.1383T>C, NM_001193535.1:c.1383T>C, XM_006713959.4:c.1377T>C, XM_006713959.3:c.1377T>C, XM_006713959.2:c.1377T>C, XM_006713959.1:c.1377T>C, XM_017008019.3:c.1269T>C, XM_017008019.2:c.1269T>C, XM_017008019.1:c.1269T>C, XM_011513831.3:c.1326T>C, XM_011513831.2:c.1326T>C, XM_011513831.1:c.1326T>C, XM_011513833.3:c.1218T>C, XM_011513833.2:c.1218T>C, XM_011513833.1:c.1218T>C, NM_033535.2:c.1056T>C, XM_047450052.1:c.1377T>C, XM_047450051.1:c.1377T>C, XM_047450060.1:c.1326T>C, XM_047450050.1:c.1377T>C, XM_047450061.1:c.1269T>C, XM_047450049.1:c.1377T>C, XM_047450053.1:c.1377T>C, XM_047450054.1:c.1377T>C, XM_047450057.1:c.1326T>C, XM_047450058.1:c.1326T>C, XM_047450055.1:c.1377T>C, XM_047450056.1:c.1377T>C, XM_047450059.1:c.1326T>C, NM_033535.1:c.1056T>C

                          13.

                          rs1456936371 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:15640881 (GRCh38)
                            4:15642504 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:15640880:A:G
                            Gene:
                            FBXL5 (Varview), FAM200B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.15640881A>G, NC_000004.11:g.15642504A>G, NG_047143.1:g.24037T>C, NM_012161.4:c.303T>C, NM_012161.3:c.303T>C, NR_036464.2:n.477T>C, NR_036464.1:n.532T>C, NM_001193534.2:c.303T>C, NM_001193534.1:c.303T>C, NM_001193535.2:c.252T>C, NM_001193535.1:c.252T>C, XM_006713959.4:c.246T>C, XM_006713959.3:c.246T>C, XM_006713959.2:c.246T>C, XM_006713959.1:c.246T>C, XM_017008019.3:c.138T>C, XM_017008019.2:c.138T>C, XM_017008019.1:c.138T>C, XM_011513831.3:c.195T>C, XM_011513831.2:c.195T>C, XM_011513831.1:c.195T>C, XM_011513833.3:c.87T>C, XM_011513833.2:c.87T>C, XM_011513833.1:c.87T>C, NM_033535.2:c.-76T>C, XM_047450052.1:c.246T>C, XM_047450051.1:c.246T>C, XM_047450060.1:c.195T>C, XM_047450050.1:c.246T>C, XM_047450061.1:c.138T>C, XM_047450049.1:c.246T>C, XM_047450053.1:c.246T>C, XM_047450054.1:c.246T>C, XM_047450057.1:c.195T>C, XM_047450058.1:c.195T>C, XM_047450055.1:c.246T>C, XM_047450056.1:c.246T>C, XM_047450059.1:c.195T>C, NM_033535.1:c.-76T>C

                            14.

                            rs1452786427 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              4:15644598 (GRCh38)
                              4:15646221 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:15644597:A:T
                              Gene:
                              FBXL5 (Varview), FAM200B (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000004.12:g.15644598A>T, NC_000004.11:g.15646221A>T, NG_047143.1:g.20320T>A, NM_012161.4:c.195T>A, NM_012161.3:c.195T>A, NR_036464.2:n.265T>A, NR_036464.1:n.320T>A, NM_001193534.2:c.195T>A, NM_001193534.1:c.195T>A, NM_001193535.2:c.144T>A, NM_001193535.1:c.144T>A, XM_006713959.4:c.138T>A, XM_006713959.3:c.138T>A, XM_006713959.2:c.138T>A, XM_006713959.1:c.138T>A, XM_017008019.3:c.30T>A, XM_017008019.2:c.30T>A, XM_017008019.1:c.30T>A, XM_011513831.3:c.87T>A, XM_011513831.2:c.87T>A, XM_011513831.1:c.87T>A, NM_033535.2:c.-288T>A, XM_047450052.1:c.138T>A, XM_047450051.1:c.138T>A, XM_047450060.1:c.87T>A, XM_047450050.1:c.138T>A, XM_047450061.1:c.30T>A, XM_047450049.1:c.138T>A, XM_047450053.1:c.138T>A, XM_047450054.1:c.138T>A, XM_047450057.1:c.87T>A, XM_047450058.1:c.87T>A, XM_047450055.1:c.138T>A, XM_047450056.1:c.138T>A, XM_047450059.1:c.87T>A, NM_033535.1:c.-288T>A

                              15.

                              rs1446784793 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                4:15636573 (GRCh38)
                                4:15638196 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:15636572:A:C
                                Gene:
                                FBXL5 (Varview), FAM200B (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.00007/1 (ALFA)
                                HGVS:
                                NC_000004.12:g.15636573A>C, NC_000004.11:g.15638196A>C, NG_047143.1:g.28345T>G, NM_012161.4:c.687T>G, NM_012161.3:c.687T>G, NR_036464.2:n.861T>G, NR_036464.1:n.916T>G, NM_001193534.2:c.684T>G, NM_001193534.1:c.684T>G, NM_001193535.2:c.636T>G, NM_001193535.1:c.636T>G, XM_006713959.4:c.630T>G, XM_006713959.3:c.630T>G, XM_006713959.2:c.630T>G, XM_006713959.1:c.630T>G, XM_017008019.3:c.522T>G, XM_017008019.2:c.522T>G, XM_017008019.1:c.522T>G, XM_011513831.3:c.579T>G, XM_011513831.2:c.579T>G, XM_011513831.1:c.579T>G, XM_011513833.3:c.471T>G, XM_011513833.2:c.471T>G, XM_011513833.1:c.471T>G, NM_033535.2:c.309T>G, XM_047450052.1:c.630T>G, XM_047450051.1:c.630T>G, XM_047450060.1:c.579T>G, XM_047450050.1:c.630T>G, XM_047450061.1:c.522T>G, XM_047450049.1:c.630T>G, XM_047450053.1:c.630T>G, XM_047450054.1:c.630T>G, XM_047450057.1:c.579T>G, XM_047450058.1:c.579T>G, XM_047450055.1:c.630T>G, XM_047450056.1:c.630T>G, XM_047450059.1:c.579T>G, NM_033535.1:c.309T>G, NP_036293.1:p.Ser229Arg, NP_001180463.1:p.Ser228Arg, NP_001180464.1:p.Ser212Arg, XP_006714022.1:p.Ser210Arg, XP_016863508.1:p.Ser174Arg, XP_011512133.1:p.Ser193Arg, XP_011512135.1:p.Ser157Arg, XP_047306008.1:p.Ser210Arg, XP_047306007.1:p.Ser210Arg, XP_047306016.1:p.Ser193Arg, XP_047306006.1:p.Ser210Arg, XP_047306017.1:p.Ser174Arg, XP_047306005.1:p.Ser210Arg, XP_047306009.1:p.Ser210Arg, XP_047306010.1:p.Ser210Arg, XP_047306013.1:p.Ser193Arg, XP_047306014.1:p.Ser193Arg, XP_047306011.1:p.Ser210Arg, XP_047306012.1:p.Ser210Arg, XP_047306015.1:p.Ser193Arg

                                16.

                                rs1445886409 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:15626939 (GRCh38)
                                  4:15628562 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:15626938:T:C
                                  Gene:
                                  FBXL5 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000004.12:g.15626939T>C, NC_000004.11:g.15628562T>C, NG_047143.1:g.37979A>G, NM_012161.4:c.1058A>G, NM_012161.3:c.1058A>G, NR_036464.2:n.1232A>G, NR_036464.1:n.1287A>G, NM_001193534.2:c.1055A>G, NM_001193534.1:c.1055A>G, NM_001193535.2:c.1007A>G, NM_001193535.1:c.1007A>G, XM_006713959.4:c.1001A>G, XM_006713959.3:c.1001A>G, XM_006713959.2:c.1001A>G, XM_006713959.1:c.1001A>G, XM_017008019.3:c.893A>G, XM_017008019.2:c.893A>G, XM_017008019.1:c.893A>G, XM_011513831.3:c.950A>G, XM_011513831.2:c.950A>G, XM_011513831.1:c.950A>G, XM_011513833.3:c.842A>G, XM_011513833.2:c.842A>G, XM_011513833.1:c.842A>G, NM_033535.2:c.680A>G, XM_047450052.1:c.1001A>G, XM_047450051.1:c.1001A>G, XM_047450060.1:c.950A>G, XM_047450050.1:c.1001A>G, XM_047450061.1:c.893A>G, XM_047450049.1:c.1001A>G, XM_047450053.1:c.1001A>G, XM_047450054.1:c.1001A>G, XM_047450057.1:c.950A>G, XM_047450058.1:c.950A>G, XM_047450055.1:c.1001A>G, XM_047450056.1:c.1001A>G, XM_047450059.1:c.950A>G, NM_033535.1:c.680A>G, NP_036293.1:p.Glu353Gly, NP_001180463.1:p.Glu352Gly, NP_001180464.1:p.Glu336Gly, XP_006714022.1:p.Glu334Gly, XP_016863508.1:p.Glu298Gly, XP_011512133.1:p.Glu317Gly, XP_011512135.1:p.Glu281Gly, XP_047306008.1:p.Glu334Gly, XP_047306007.1:p.Glu334Gly, XP_047306016.1:p.Glu317Gly, XP_047306006.1:p.Glu334Gly, XP_047306017.1:p.Glu298Gly, XP_047306005.1:p.Glu334Gly, XP_047306009.1:p.Glu334Gly, XP_047306010.1:p.Glu334Gly, XP_047306013.1:p.Glu317Gly, XP_047306014.1:p.Glu317Gly, XP_047306011.1:p.Glu334Gly, XP_047306012.1:p.Glu334Gly, XP_047306015.1:p.Glu317Gly

                                  17.

                                  rs1445073902 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:15625815 (GRCh38)
                                    4:15627438 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:15625814:A:G
                                    Gene:
                                    FBXL5 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    NC_000004.12:g.15625815A>G, NC_000004.11:g.15627438A>G, NG_047143.1:g.39103T>C, NM_012161.4:c.1287T>C, NM_012161.3:c.1287T>C, NR_036464.2:n.1461T>C, NR_036464.1:n.1516T>C, NM_001193534.2:c.1284T>C, NM_001193534.1:c.1284T>C, NM_001193535.2:c.1236T>C, NM_001193535.1:c.1236T>C, XM_006713959.4:c.1230T>C, XM_006713959.3:c.1230T>C, XM_006713959.2:c.1230T>C, XM_006713959.1:c.1230T>C, XM_017008019.3:c.1122T>C, XM_017008019.2:c.1122T>C, XM_017008019.1:c.1122T>C, XM_011513831.3:c.1179T>C, XM_011513831.2:c.1179T>C, XM_011513831.1:c.1179T>C, XM_011513833.3:c.1071T>C, XM_011513833.2:c.1071T>C, XM_011513833.1:c.1071T>C, NM_033535.2:c.909T>C, XM_047450052.1:c.1230T>C, XM_047450051.1:c.1230T>C, XM_047450060.1:c.1179T>C, XM_047450050.1:c.1230T>C, XM_047450061.1:c.1122T>C, XM_047450049.1:c.1230T>C, XM_047450053.1:c.1230T>C, XM_047450054.1:c.1230T>C, XM_047450057.1:c.1179T>C, XM_047450058.1:c.1179T>C, XM_047450055.1:c.1230T>C, XM_047450056.1:c.1230T>C, XM_047450059.1:c.1179T>C, NM_033535.1:c.909T>C

                                    18.

                                    rs1444802448 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      4:15625343 (GRCh38)
                                      4:15626966 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:15625342:A:T
                                      Gene:
                                      FBXL5 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.15625343A>T, NC_000004.11:g.15626966A>T, NG_047143.1:g.39575T>A, NM_012161.4:c.1759T>A, NM_012161.3:c.1759T>A, NR_036464.2:n.1933T>A, NR_036464.1:n.1988T>A, NM_001193534.2:c.1756T>A, NM_001193534.1:c.1756T>A, NM_001193535.2:c.1708T>A, NM_001193535.1:c.1708T>A, XM_006713959.4:c.1702T>A, XM_006713959.3:c.1702T>A, XM_006713959.2:c.1702T>A, XM_006713959.1:c.1702T>A, XM_017008019.3:c.1594T>A, XM_017008019.2:c.1594T>A, XM_017008019.1:c.1594T>A, XM_011513831.3:c.1651T>A, XM_011513831.2:c.1651T>A, XM_011513831.1:c.1651T>A, XM_011513833.3:c.1543T>A, XM_011513833.2:c.1543T>A, XM_011513833.1:c.1543T>A, NM_033535.2:c.1381T>A, XM_047450052.1:c.1702T>A, XM_047450051.1:c.1702T>A, XM_047450060.1:c.1651T>A, XM_047450050.1:c.1702T>A, XM_047450061.1:c.1594T>A, XM_047450049.1:c.1702T>A, XM_047450053.1:c.1702T>A, XM_047450054.1:c.1702T>A, XM_047450057.1:c.1651T>A, XM_047450058.1:c.1651T>A, XM_047450055.1:c.1702T>A, XM_047450056.1:c.1702T>A, XM_047450059.1:c.1651T>A, NM_033535.1:c.1381T>A, NP_036293.1:p.Phe587Ile, NP_001180463.1:p.Phe586Ile, NP_001180464.1:p.Phe570Ile, XP_006714022.1:p.Phe568Ile, XP_016863508.1:p.Phe532Ile, XP_011512133.1:p.Phe551Ile, XP_011512135.1:p.Phe515Ile, XP_047306008.1:p.Phe568Ile, XP_047306007.1:p.Phe568Ile, XP_047306016.1:p.Phe551Ile, XP_047306006.1:p.Phe568Ile, XP_047306017.1:p.Phe532Ile, XP_047306005.1:p.Phe568Ile, XP_047306009.1:p.Phe568Ile, XP_047306010.1:p.Phe568Ile, XP_047306013.1:p.Phe551Ile, XP_047306014.1:p.Phe551Ile, XP_047306011.1:p.Phe568Ile, XP_047306012.1:p.Phe568Ile, XP_047306015.1:p.Phe551Ile

                                      19.

                                      rs1443811052 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:15625777 (GRCh38)
                                        4:15627400 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:15625776:T:C
                                        Gene:
                                        FBXL5 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.15625777T>C, NC_000004.11:g.15627400T>C, NG_047143.1:g.39141A>G, NM_012161.4:c.1325A>G, NM_012161.3:c.1325A>G, NR_036464.2:n.1499A>G, NR_036464.1:n.1554A>G, NM_001193534.2:c.1322A>G, NM_001193534.1:c.1322A>G, NM_001193535.2:c.1274A>G, NM_001193535.1:c.1274A>G, XM_006713959.4:c.1268A>G, XM_006713959.3:c.1268A>G, XM_006713959.2:c.1268A>G, XM_006713959.1:c.1268A>G, XM_017008019.3:c.1160A>G, XM_017008019.2:c.1160A>G, XM_017008019.1:c.1160A>G, XM_011513831.3:c.1217A>G, XM_011513831.2:c.1217A>G, XM_011513831.1:c.1217A>G, XM_011513833.3:c.1109A>G, XM_011513833.2:c.1109A>G, XM_011513833.1:c.1109A>G, NM_033535.2:c.947A>G, XM_047450052.1:c.1268A>G, XM_047450051.1:c.1268A>G, XM_047450060.1:c.1217A>G, XM_047450050.1:c.1268A>G, XM_047450061.1:c.1160A>G, XM_047450049.1:c.1268A>G, XM_047450053.1:c.1268A>G, XM_047450054.1:c.1268A>G, XM_047450057.1:c.1217A>G, XM_047450058.1:c.1217A>G, XM_047450055.1:c.1268A>G, XM_047450056.1:c.1268A>G, XM_047450059.1:c.1217A>G, NM_033535.1:c.947A>G, NP_036293.1:p.Lys442Arg, NP_001180463.1:p.Lys441Arg, NP_001180464.1:p.Lys425Arg, XP_006714022.1:p.Lys423Arg, XP_016863508.1:p.Lys387Arg, XP_011512133.1:p.Lys406Arg, XP_011512135.1:p.Lys370Arg, XP_047306008.1:p.Lys423Arg, XP_047306007.1:p.Lys423Arg, XP_047306016.1:p.Lys406Arg, XP_047306006.1:p.Lys423Arg, XP_047306017.1:p.Lys387Arg, XP_047306005.1:p.Lys423Arg, XP_047306009.1:p.Lys423Arg, XP_047306010.1:p.Lys423Arg, XP_047306013.1:p.Lys406Arg, XP_047306014.1:p.Lys406Arg, XP_047306011.1:p.Lys423Arg, XP_047306012.1:p.Lys423Arg, XP_047306015.1:p.Lys406Arg

                                        20.

                                        rs1442946896 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:15605782 (GRCh38)
                                          4:15607405 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:15605781:C:T
                                          Gene:
                                          FBXL5 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000004.12:g.15605782C>T, NC_000004.11:g.15607405C>T, NG_047143.1:g.59136G>A, NM_012161.4:c.2017G>A, NM_012161.3:c.2017G>A, NR_036464.2:n.2191G>A, NR_036464.1:n.2246G>A, NM_001193534.2:c.2014G>A, NM_001193534.1:c.2014G>A, NM_001193535.2:c.1966G>A, NM_001193535.1:c.1966G>A, XM_006713959.4:c.1960G>A, XM_006713959.3:c.1960G>A, XM_006713959.2:c.1960G>A, XM_006713959.1:c.1960G>A, XM_017008019.3:c.1852G>A, XM_017008019.2:c.1852G>A, XM_017008019.1:c.1852G>A, XM_011513831.3:c.1909G>A, XM_011513831.2:c.1909G>A, XM_011513831.1:c.1909G>A, XM_011513833.3:c.1801G>A, XM_011513833.2:c.1801G>A, XM_011513833.1:c.1801G>A, NM_033535.2:c.1639G>A, XM_047450052.1:c.1960G>A, XM_047450051.1:c.1960G>A, XM_047450060.1:c.1909G>A, XM_047450050.1:c.1960G>A, XM_047450061.1:c.1852G>A, XM_047450049.1:c.1960G>A, XM_047450053.1:c.1960G>A, XM_047450054.1:c.1960G>A, XM_047450057.1:c.1909G>A, XM_047450058.1:c.1909G>A, XM_047450055.1:c.1960G>A, XM_047450056.1:c.1960G>A, XM_047450059.1:c.1909G>A, NM_033535.1:c.1639G>A, NP_036293.1:p.Ala673Thr, NP_001180463.1:p.Ala672Thr, NP_001180464.1:p.Ala656Thr, XP_006714022.1:p.Ala654Thr, XP_016863508.1:p.Ala618Thr, XP_011512133.1:p.Ala637Thr, XP_011512135.1:p.Ala601Thr, XP_047306008.1:p.Ala654Thr, XP_047306007.1:p.Ala654Thr, XP_047306016.1:p.Ala637Thr, XP_047306006.1:p.Ala654Thr, XP_047306017.1:p.Ala618Thr, XP_047306005.1:p.Ala654Thr, XP_047306009.1:p.Ala654Thr, XP_047306010.1:p.Ala654Thr, XP_047306013.1:p.Ala637Thr, XP_047306014.1:p.Ala637Thr, XP_047306011.1:p.Ala654Thr, XP_047306012.1:p.Ala654Thr, XP_047306015.1:p.Ala637Thr

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