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Items: 1 to 20 of 440

1.

rs1488747327 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    13:113229509 (GRCh38)
    13:113883823 (GRCh37)
    Canonical SPDI:
    NC_000013.11:113229508:C:A
    Gene:
    CUL4A (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000013.11:g.113229509C>A, NC_000013.10:g.113883823C>A, NM_001008895.4:c.502C>A, NM_001008895.3:c.502C>A, NM_001008895.2:c.502C>A, NM_003589.4:c.202C>A, NM_003589.3:c.202C>A, NM_003589.2:c.202C>A, NM_001278513.3:c.202C>A, NM_001278513.2:c.202C>A, NM_001278513.1:c.202C>A, NM_001278514.3:c.202C>A, NM_001278514.2:c.202C>A, NM_001278514.1:c.202C>A, NM_001354941.2:c.67C>A, NM_001354941.1:c.67C>A, NM_001354942.2:c.67C>A, NM_001354942.1:c.67C>A, NM_001354940.2:c.202C>A, NM_001354940.1:c.202C>A, NM_001354939.2:c.202C>A, NM_001354939.1:c.202C>A, NM_001354938.2:c.202C>A, NM_001354938.1:c.202C>A, NM_001354943.2:c.502C>A, NM_001354943.1:c.502C>A, NM_001354944.2:c.202C>A, NM_001354944.1:c.202C>A, NP_001008895.1:p.Pro168Thr, NP_003580.1:p.Pro68Thr, NP_001265442.1:p.Pro68Thr, NP_001265443.1:p.Pro68Thr, NP_001341870.1:p.Pro23Thr, NP_001341871.1:p.Pro23Thr, NP_001341869.1:p.Pro68Thr, NP_001341868.1:p.Pro68Thr, NP_001341867.1:p.Pro68Thr, NP_001341872.1:p.Pro168Thr, NP_001341873.1:p.Pro68Thr

    2.

    rs1488480214 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      13:113235083 (GRCh38)
      13:113889397 (GRCh37)
      Canonical SPDI:
      NC_000013.11:113235082:T:A
      Gene:
      CUL4A (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_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=0.000014/2 (GnomAD)
      HGVS:
      NC_000013.11:g.113235083T>A, NC_000013.10:g.113889397T>A, NM_001008895.4:c.786T>A, NM_001008895.3:c.786T>A, NM_001008895.2:c.786T>A, NM_003589.4:c.486T>A, NM_003589.3:c.486T>A, NM_003589.2:c.486T>A, NM_001278513.3:c.486T>A, NM_001278513.2:c.486T>A, NM_001278513.1:c.486T>A, NM_001278514.3:c.510T>A, NM_001278514.2:c.510T>A, NM_001278514.1:c.510T>A, NM_001354941.2:c.351T>A, NM_001354941.1:c.351T>A, NM_001354942.2:c.351T>A, NM_001354942.1:c.351T>A, NM_001354940.2:c.486T>A, NM_001354940.1:c.486T>A, NM_001354939.2:c.486T>A, NM_001354939.1:c.486T>A, NM_001354938.2:c.486T>A, NM_001354938.1:c.486T>A, NP_001008895.1:p.His262Gln, NP_003580.1:p.His162Gln, NP_001265442.1:p.His162Gln, NP_001265443.1:p.His170Gln, NP_001341870.1:p.His117Gln, NP_001341871.1:p.His117Gln, NP_001341869.1:p.His162Gln, NP_001341868.1:p.His162Gln, NP_001341867.1:p.His162Gln

      3.

      rs1488222974 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        13:113243144 (GRCh38)
        13:113897458 (GRCh37)
        Canonical SPDI:
        NC_000013.11:113243143:G:A
        Gene:
        CUL4A (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1488155514 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          13:113233328 (GRCh38)
          13:113887642 (GRCh37)
          Canonical SPDI:
          NC_000013.11:113233327:T:G
          Gene:
          CUL4A (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000013.11:g.113233328T>G, NC_000013.10:g.113887642T>G, NM_001008895.4:c.664T>G, NM_001008895.3:c.664T>G, NM_001008895.2:c.664T>G, NM_003589.4:c.364T>G, NM_003589.3:c.364T>G, NM_003589.2:c.364T>G, NM_001278513.3:c.364T>G, NM_001278513.2:c.364T>G, NM_001278513.1:c.364T>G, NM_001278514.3:c.388T>G, NM_001278514.2:c.388T>G, NM_001278514.1:c.388T>G, NM_001354941.2:c.229T>G, NM_001354941.1:c.229T>G, NM_001354942.2:c.229T>G, NM_001354942.1:c.229T>G, NM_001354940.2:c.364T>G, NM_001354940.1:c.364T>G, NM_001354939.2:c.364T>G, NM_001354939.1:c.364T>G, NM_001354938.2:c.364T>G, NM_001354938.1:c.364T>G, NP_001008895.1:p.Ser222Ala, NP_003580.1:p.Ser122Ala, NP_001265442.1:p.Ser122Ala, NP_001265443.1:p.Ser130Ala, NP_001341870.1:p.Ser77Ala, NP_001341871.1:p.Ser77Ala, NP_001341869.1:p.Ser122Ala, NP_001341868.1:p.Ser122Ala, NP_001341867.1:p.Ser122Ala

          5.

          rs1482110124 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            13:113242986 (GRCh38)
            13:113897300 (GRCh37)
            Canonical SPDI:
            NC_000013.11:113242985:G:A
            Gene:
            CUL4A (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000011/3 (TOPMED)
            HGVS:
            NC_000013.11:g.113242986G>A, NC_000013.10:g.113897300G>A, NM_001008895.4:c.1054G>A, NM_001008895.3:c.1054G>A, NM_001008895.2:c.1054G>A, NM_003589.4:c.754G>A, NM_003589.3:c.754G>A, NM_003589.2:c.754G>A, NM_001278513.3:c.754G>A, NM_001278513.2:c.754G>A, NM_001278513.1:c.754G>A, NM_001278514.3:c.778G>A, NM_001278514.2:c.778G>A, NM_001278514.1:c.778G>A, NM_001354941.2:c.619G>A, NM_001354941.1:c.619G>A, NM_001354942.2:c.619G>A, NM_001354942.1:c.619G>A, NM_001354940.2:c.754G>A, NM_001354940.1:c.754G>A, NM_001354939.2:c.754G>A, NM_001354939.1:c.754G>A, NM_001354938.2:c.754G>A, NM_001354938.1:c.754G>A, NP_001008895.1:p.Val352Ile, NP_003580.1:p.Val252Ile, NP_001265442.1:p.Val252Ile, NP_001265443.1:p.Val260Ile, NP_001341870.1:p.Val207Ile, NP_001341871.1:p.Val207Ile, NP_001341869.1:p.Val252Ile, NP_001341868.1:p.Val252Ile, NP_001341867.1:p.Val252Ile

            6.

            rs1481932865 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              13:113245986 (GRCh38)
              13:113900300 (GRCh37)
              Canonical SPDI:
              NC_000013.11:113245985:A:G
              Gene:
              CUL4A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000016/4 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.113245986A>G, NC_000013.10:g.113900300A>G, NM_001008895.4:c.1561A>G, NM_001008895.3:c.1561A>G, NM_001008895.2:c.1561A>G, NM_003589.4:c.1261A>G, NM_003589.3:c.1261A>G, NM_003589.2:c.1261A>G, NM_001278513.3:c.1261A>G, NM_001278513.2:c.1261A>G, NM_001278513.1:c.1261A>G, NM_001278514.3:c.1285A>G, NM_001278514.2:c.1285A>G, NM_001278514.1:c.1285A>G, NM_001354941.2:c.1126A>G, NM_001354941.1:c.1126A>G, NM_001354942.2:c.1126A>G, NM_001354942.1:c.1126A>G, NM_001354940.2:c.1261A>G, NM_001354940.1:c.1261A>G, NM_001354939.2:c.1261A>G, NM_001354939.1:c.1261A>G, NM_001354938.2:c.1261A>G, NM_001354938.1:c.1261A>G, NP_001008895.1:p.Ile521Val, NP_003580.1:p.Ile421Val, NP_001265442.1:p.Ile421Val, NP_001265443.1:p.Ile429Val, NP_001341870.1:p.Ile376Val, NP_001341871.1:p.Ile376Val, NP_001341869.1:p.Ile421Val, NP_001341868.1:p.Ile421Val, NP_001341867.1:p.Ile421Val

              7.

              rs1481665273 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                13:113254713 (GRCh38)
                13:113909027 (GRCh37)
                Canonical SPDI:
                NC_000013.11:113254712:G:A
                Gene:
                CUL4A (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1480083184 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:113243036 (GRCh38)
                  13:113897350 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:113243035:C:T
                  Gene:
                  CUL4A (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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:

                  9.

                  rs1475564378 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    13:113246025 (GRCh38)
                    13:113900339 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:113246024:C:G
                    Gene:
                    CUL4A (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.113246025C>G, NC_000013.10:g.113900339C>G, NM_001008895.4:c.1600C>G, NM_001008895.3:c.1600C>G, NM_001008895.2:c.1600C>G, NM_003589.4:c.1300C>G, NM_003589.3:c.1300C>G, NM_003589.2:c.1300C>G, NM_001278513.3:c.1300C>G, NM_001278513.2:c.1300C>G, NM_001278513.1:c.1300C>G, NM_001278514.3:c.1324C>G, NM_001278514.2:c.1324C>G, NM_001278514.1:c.1324C>G, NM_001354941.2:c.1165C>G, NM_001354941.1:c.1165C>G, NM_001354942.2:c.1165C>G, NM_001354942.1:c.1165C>G, NM_001354940.2:c.1300C>G, NM_001354940.1:c.1300C>G, NM_001354939.2:c.1300C>G, NM_001354939.1:c.1300C>G, NM_001354938.2:c.1300C>G, NM_001354938.1:c.1300C>G, NP_001008895.1:p.Pro534Ala, NP_003580.1:p.Pro434Ala, NP_001265442.1:p.Pro434Ala, NP_001265443.1:p.Pro442Ala, NP_001341870.1:p.Pro389Ala, NP_001341871.1:p.Pro389Ala, NP_001341869.1:p.Pro434Ala, NP_001341868.1:p.Pro434Ala, NP_001341867.1:p.Pro434Ala

                    10.

                    rs1475306567 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      13:113235119 (GRCh38)
                      13:113889433 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:113235118:A:G,NC_000013.11:113235118:A:T
                      Gene:
                      CUL4A (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000013.11:g.113235119A>G, NC_000013.11:g.113235119A>T, NC_000013.10:g.113889433A>G, NC_000013.10:g.113889433A>T, NM_001008895.4:c.822A>G, NM_001008895.4:c.822A>T, NM_001008895.3:c.822A>G, NM_001008895.3:c.822A>T, NM_001008895.2:c.822A>G, NM_001008895.2:c.822A>T, NM_003589.4:c.522A>G, NM_003589.4:c.522A>T, NM_003589.3:c.522A>G, NM_003589.3:c.522A>T, NM_003589.2:c.522A>G, NM_003589.2:c.522A>T, NM_001278513.3:c.522A>G, NM_001278513.3:c.522A>T, NM_001278513.2:c.522A>G, NM_001278513.2:c.522A>T, NM_001278513.1:c.522A>G, NM_001278513.1:c.522A>T, NM_001278514.3:c.546A>G, NM_001278514.3:c.546A>T, NM_001278514.2:c.546A>G, NM_001278514.2:c.546A>T, NM_001278514.1:c.546A>G, NM_001278514.1:c.546A>T, NM_001354941.2:c.387A>G, NM_001354941.2:c.387A>T, NM_001354941.1:c.387A>G, NM_001354941.1:c.387A>T, NM_001354942.2:c.387A>G, NM_001354942.2:c.387A>T, NM_001354942.1:c.387A>G, NM_001354942.1:c.387A>T, NM_001354940.2:c.522A>G, NM_001354940.2:c.522A>T, NM_001354940.1:c.522A>G, NM_001354940.1:c.522A>T, NM_001354939.2:c.522A>G, NM_001354939.2:c.522A>T, NM_001354939.1:c.522A>G, NM_001354939.1:c.522A>T, NM_001354938.2:c.522A>G, NM_001354938.2:c.522A>T, NM_001354938.1:c.522A>G, NM_001354938.1:c.522A>T

                      11.

                      rs1472966452 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:113263508 (GRCh38)
                        13:113917822 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:113263507:A:G
                        Gene:
                        CUL4A (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        HGVS:
                        NC_000013.11:g.113263508A>G, NC_000013.10:g.113917822A>G, NM_001008895.4:c.2206A>G, NM_001008895.3:c.2206A>G, NM_001008895.2:c.2206A>G, NM_003589.4:c.1906A>G, NM_003589.3:c.1906A>G, NM_003589.2:c.1906A>G, NM_001278513.3:c.1906A>G, NM_001278513.2:c.1906A>G, NM_001278513.1:c.1906A>G, NM_001278514.3:c.1930A>G, NM_001278514.2:c.1930A>G, NM_001278514.1:c.1930A>G, NM_001354941.2:c.1771A>G, NM_001354941.1:c.1771A>G, NM_001354942.2:c.1771A>G, NM_001354942.1:c.1771A>G, NM_001354940.2:c.1906A>G, NM_001354940.1:c.1906A>G, NM_001354939.2:c.1906A>G, NM_001354939.1:c.1906A>G, NM_001354938.2:c.1906A>G, NM_001354938.1:c.1906A>G, NP_001008895.1:p.Ile736Val, NP_003580.1:p.Ile636Val, NP_001265442.1:p.Ile636Val, NP_001265443.1:p.Ile644Val, NP_001341870.1:p.Ile591Val, NP_001341871.1:p.Ile591Val, NP_001341869.1:p.Ile636Val, NP_001341868.1:p.Ile636Val, NP_001341867.1:p.Ile636Val

                        12.

                        rs1471031335 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          13:113233332 (GRCh38)
                          13:113887646 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:113233331:A:C,NC_000013.11:113233331:A:G
                          Gene:
                          CUL4A (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          C=0.003275/6 (Korea1K)
                          HGVS:
                          NC_000013.11:g.113233332A>C, NC_000013.11:g.113233332A>G, NC_000013.10:g.113887646A>C, NC_000013.10:g.113887646A>G, NM_001008895.4:c.668A>C, NM_001008895.4:c.668A>G, NM_001008895.3:c.668A>C, NM_001008895.3:c.668A>G, NM_001008895.2:c.668A>C, NM_001008895.2:c.668A>G, NM_003589.4:c.368A>C, NM_003589.4:c.368A>G, NM_003589.3:c.368A>C, NM_003589.3:c.368A>G, NM_003589.2:c.368A>C, NM_003589.2:c.368A>G, NM_001278513.3:c.368A>C, NM_001278513.3:c.368A>G, NM_001278513.2:c.368A>C, NM_001278513.2:c.368A>G, NM_001278513.1:c.368A>C, NM_001278513.1:c.368A>G, NM_001278514.3:c.392A>C, NM_001278514.3:c.392A>G, NM_001278514.2:c.392A>C, NM_001278514.2:c.392A>G, NM_001278514.1:c.392A>C, NM_001278514.1:c.392A>G, NM_001354941.2:c.233A>C, NM_001354941.2:c.233A>G, NM_001354941.1:c.233A>C, NM_001354941.1:c.233A>G, NM_001354942.2:c.233A>C, NM_001354942.2:c.233A>G, NM_001354942.1:c.233A>C, NM_001354942.1:c.233A>G, NM_001354940.2:c.368A>C, NM_001354940.2:c.368A>G, NM_001354940.1:c.368A>C, NM_001354940.1:c.368A>G, NM_001354939.2:c.368A>C, NM_001354939.2:c.368A>G, NM_001354939.1:c.368A>C, NM_001354939.1:c.368A>G, NM_001354938.2:c.368A>C, NM_001354938.2:c.368A>G, NM_001354938.1:c.368A>C, NM_001354938.1:c.368A>G, NP_001008895.1:p.Asp223Ala, NP_001008895.1:p.Asp223Gly, NP_003580.1:p.Asp123Ala, NP_003580.1:p.Asp123Gly, NP_001265442.1:p.Asp123Ala, NP_001265442.1:p.Asp123Gly, NP_001265443.1:p.Asp131Ala, NP_001265443.1:p.Asp131Gly, NP_001341870.1:p.Asp78Ala, NP_001341870.1:p.Asp78Gly, NP_001341871.1:p.Asp78Ala, NP_001341871.1:p.Asp78Gly, NP_001341869.1:p.Asp123Ala, NP_001341869.1:p.Asp123Gly, NP_001341868.1:p.Asp123Ala, NP_001341868.1:p.Asp123Gly, NP_001341867.1:p.Asp123Ala, NP_001341867.1:p.Asp123Gly

                          13.

                          rs1455912130 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            13:113229479 (GRCh38)
                            13:113883793 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:113229478:C:T
                            Gene:
                            CUL4A (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000013.11:g.113229479C>T, NC_000013.10:g.113883793C>T, NM_001008895.4:c.472C>T, NM_001008895.3:c.472C>T, NM_001008895.2:c.472C>T, NM_003589.4:c.172C>T, NM_003589.3:c.172C>T, NM_003589.2:c.172C>T, NM_001278513.3:c.172C>T, NM_001278513.2:c.172C>T, NM_001278513.1:c.172C>T, NM_001278514.3:c.172C>T, NM_001278514.2:c.172C>T, NM_001278514.1:c.172C>T, NM_001354941.2:c.37C>T, NM_001354941.1:c.37C>T, NM_001354942.2:c.37C>T, NM_001354942.1:c.37C>T, NM_001354940.2:c.172C>T, NM_001354940.1:c.172C>T, NM_001354939.2:c.172C>T, NM_001354939.1:c.172C>T, NM_001354938.2:c.172C>T, NM_001354938.1:c.172C>T, NM_001354943.2:c.472C>T, NM_001354943.1:c.472C>T, NM_001354944.2:c.172C>T, NM_001354944.1:c.172C>T, NP_001008895.1:p.Arg158Cys, NP_003580.1:p.Arg58Cys, NP_001265442.1:p.Arg58Cys, NP_001265443.1:p.Arg58Cys, NP_001341870.1:p.Arg13Cys, NP_001341871.1:p.Arg13Cys, NP_001341869.1:p.Arg58Cys, NP_001341868.1:p.Arg58Cys, NP_001341867.1:p.Arg58Cys, NP_001341872.1:p.Arg158Cys, NP_001341873.1:p.Arg58Cys

                            14.

                            rs1454725641 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              13:113253147 (GRCh38)
                              13:113907461 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:113253146:G:A,NC_000013.11:113253146:G:T
                              Gene:
                              CUL4A (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.113253147G>A, NC_000013.11:g.113253147G>T, NC_000013.10:g.113907461G>A, NC_000013.10:g.113907461G>T, NM_001008895.4:c.1704G>A, NM_001008895.4:c.1704G>T, NM_001008895.3:c.1704G>A, NM_001008895.3:c.1704G>T, NM_001008895.2:c.1704G>A, NM_001008895.2:c.1704G>T, NM_003589.4:c.1404G>A, NM_003589.4:c.1404G>T, NM_003589.3:c.1404G>A, NM_003589.3:c.1404G>T, NM_003589.2:c.1404G>A, NM_003589.2:c.1404G>T, NM_001278513.3:c.1404G>A, NM_001278513.3:c.1404G>T, NM_001278513.2:c.1404G>A, NM_001278513.2:c.1404G>T, NM_001278513.1:c.1404G>A, NM_001278513.1:c.1404G>T, NM_001278514.3:c.1428G>A, NM_001278514.3:c.1428G>T, NM_001278514.2:c.1428G>A, NM_001278514.2:c.1428G>T, NM_001278514.1:c.1428G>A, NM_001278514.1:c.1428G>T, NM_001354941.2:c.1269G>A, NM_001354941.2:c.1269G>T, NM_001354941.1:c.1269G>A, NM_001354941.1:c.1269G>T, NM_001354942.2:c.1269G>A, NM_001354942.2:c.1269G>T, NM_001354942.1:c.1269G>A, NM_001354942.1:c.1269G>T, NM_001354940.2:c.1404G>A, NM_001354940.2:c.1404G>T, NM_001354940.1:c.1404G>A, NM_001354940.1:c.1404G>T, NM_001354939.2:c.1404G>A, NM_001354939.2:c.1404G>T, NM_001354939.1:c.1404G>A, NM_001354939.1:c.1404G>T, NM_001354938.2:c.1404G>A, NM_001354938.2:c.1404G>T, NM_001354938.1:c.1404G>A, NM_001354938.1:c.1404G>T, NP_001008895.1:p.Gln568His, NP_003580.1:p.Gln468His, NP_001265442.1:p.Gln468His, NP_001265443.1:p.Gln476His, NP_001341870.1:p.Gln423His, NP_001341871.1:p.Gln423His, NP_001341869.1:p.Gln468His, NP_001341868.1:p.Gln468His, NP_001341867.1:p.Gln468His

                              15.

                              rs1452932830 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                13:113254735 (GRCh38)
                                13:113909049 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:113254734:C:A
                                Gene:
                                CUL4A (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000013.11:g.113254735C>A, NC_000013.10:g.113909049C>A, NM_001008895.4:c.1795C>A, NM_001008895.3:c.1795C>A, NM_001008895.2:c.1795C>A, NM_003589.4:c.1495C>A, NM_003589.3:c.1495C>A, NM_003589.2:c.1495C>A, NM_001278513.3:c.1495C>A, NM_001278513.2:c.1495C>A, NM_001278513.1:c.1495C>A, NM_001278514.3:c.1519C>A, NM_001278514.2:c.1519C>A, NM_001278514.1:c.1519C>A, NM_001354941.2:c.1360C>A, NM_001354941.1:c.1360C>A, NM_001354942.2:c.1360C>A, NM_001354942.1:c.1360C>A, NM_001354940.2:c.1495C>A, NM_001354940.1:c.1495C>A, NM_001354939.2:c.1495C>A, NM_001354939.1:c.1495C>A, NM_001354938.2:c.1495C>A, NM_001354938.1:c.1495C>A, NP_001008895.1:p.Leu599Ile, NP_003580.1:p.Leu499Ile, NP_001265442.1:p.Leu499Ile, NP_001265443.1:p.Leu507Ile, NP_001341870.1:p.Leu454Ile, NP_001341871.1:p.Leu454Ile, NP_001341869.1:p.Leu499Ile, NP_001341868.1:p.Leu499Ile, NP_001341867.1:p.Leu499Ile

                                16.

                                rs1450523381 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:113260685 (GRCh38)
                                  13:113914999 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:113260684:A:G
                                  Gene:
                                  CUL4A (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000013.11:g.113260685A>G, NC_000013.10:g.113914999A>G, NM_001008895.4:c.2110A>G, NM_001008895.3:c.2110A>G, NM_001008895.2:c.2110A>G, NM_003589.4:c.1810A>G, NM_003589.3:c.1810A>G, NM_003589.2:c.1810A>G, NM_001278513.3:c.1810A>G, NM_001278513.2:c.1810A>G, NM_001278513.1:c.1810A>G, NM_001278514.3:c.1834A>G, NM_001278514.2:c.1834A>G, NM_001278514.1:c.1834A>G, NM_001354941.2:c.1675A>G, NM_001354941.1:c.1675A>G, NM_001354942.2:c.1675A>G, NM_001354942.1:c.1675A>G, NM_001354940.2:c.1810A>G, NM_001354940.1:c.1810A>G, NM_001354939.2:c.1810A>G, NM_001354939.1:c.1810A>G, NM_001354938.2:c.1810A>G, NM_001354938.1:c.1810A>G, NP_001008895.1:p.Met704Val, NP_003580.1:p.Met604Val, NP_001265442.1:p.Met604Val, NP_001265443.1:p.Met612Val, NP_001341870.1:p.Met559Val, NP_001341871.1:p.Met559Val, NP_001341869.1:p.Met604Val, NP_001341868.1:p.Met604Val, NP_001341867.1:p.Met604Val

                                  17.

                                  rs1449532458 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    13:113233209 (GRCh38)
                                    13:113887523 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:113233208:T:C
                                    Gene:
                                    CUL4A (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000013.11:g.113233209T>C, NC_000013.10:g.113887523T>C, NM_001008895.4:c.545T>C, NM_001008895.3:c.545T>C, NM_001008895.2:c.545T>C, NM_003589.4:c.245T>C, NM_003589.3:c.245T>C, NM_003589.2:c.245T>C, NM_001278513.3:c.245T>C, NM_001278513.2:c.245T>C, NM_001278513.1:c.245T>C, NM_001278514.3:c.269T>C, NM_001278514.2:c.269T>C, NM_001278514.1:c.269T>C, NM_001354941.2:c.110T>C, NM_001354941.1:c.110T>C, NM_001354942.2:c.110T>C, NM_001354942.1:c.110T>C, NM_001354940.2:c.245T>C, NM_001354940.1:c.245T>C, NM_001354939.2:c.245T>C, NM_001354939.1:c.245T>C, NM_001354938.2:c.245T>C, NM_001354938.1:c.245T>C, NP_001008895.1:p.Ile182Thr, NP_003580.1:p.Ile82Thr, NP_001265442.1:p.Ile82Thr, NP_001265443.1:p.Ile90Thr, NP_001341870.1:p.Ile37Thr, NP_001341871.1:p.Ile37Thr, NP_001341869.1:p.Ile82Thr, NP_001341868.1:p.Ile82Thr, NP_001341867.1:p.Ile82Thr

                                    18.

                                    rs1448226243 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      13:113236835 (GRCh38)
                                      13:113891149 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:113236834:T:C,NC_000013.11:113236834:T:G
                                      Gene:
                                      CUL4A (Varview)
                                      Functional Consequence:
                                      synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000013.11:g.113236835T>C, NC_000013.11:g.113236835T>G, NC_000013.10:g.113891149T>C, NC_000013.10:g.113891149T>G, NM_001008895.4:c.861T>C, NM_001008895.4:c.861T>G, NM_001008895.3:c.861T>C, NM_001008895.3:c.861T>G, NM_001008895.2:c.861T>C, NM_001008895.2:c.861T>G, NM_003589.4:c.561T>C, NM_003589.4:c.561T>G, NM_003589.3:c.561T>C, NM_003589.3:c.561T>G, NM_003589.2:c.561T>C, NM_003589.2:c.561T>G, NM_001278513.3:c.561T>C, NM_001278513.3:c.561T>G, NM_001278513.2:c.561T>C, NM_001278513.2:c.561T>G, NM_001278513.1:c.561T>C, NM_001278513.1:c.561T>G, NM_001278514.3:c.585T>C, NM_001278514.3:c.585T>G, NM_001278514.2:c.585T>C, NM_001278514.2:c.585T>G, NM_001278514.1:c.585T>C, NM_001278514.1:c.585T>G, NM_001354941.2:c.426T>C, NM_001354941.2:c.426T>G, NM_001354941.1:c.426T>C, NM_001354941.1:c.426T>G, NM_001354942.2:c.426T>C, NM_001354942.2:c.426T>G, NM_001354942.1:c.426T>C, NM_001354942.1:c.426T>G, NM_001354940.2:c.561T>C, NM_001354940.2:c.561T>G, NM_001354940.1:c.561T>C, NM_001354940.1:c.561T>G, NM_001354939.2:c.561T>C, NM_001354939.2:c.561T>G, NM_001354939.1:c.561T>C, NM_001354939.1:c.561T>G, NM_001354938.2:c.561T>C, NM_001354938.2:c.561T>G, NM_001354938.1:c.561T>C, NM_001354938.1:c.561T>G, NP_001008895.1:p.Ile287Met, NP_003580.1:p.Ile187Met, NP_001265442.1:p.Ile187Met, NP_001265443.1:p.Ile195Met, NP_001341870.1:p.Ile142Met, NP_001341871.1:p.Ile142Met, NP_001341869.1:p.Ile187Met, NP_001341868.1:p.Ile187Met, NP_001341867.1:p.Ile187Met

                                      19.

                                      rs1443754905 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        13:113253111 (GRCh38)
                                        13:113907425 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:113253110:A:T
                                        Gene:
                                        CUL4A (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1439578919 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          13:113244452 (GRCh38)
                                          13:113898766 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:113244451:C:G
                                          Gene:
                                          CUL4A (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_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_000013.11:g.113244452C>G, NC_000013.10:g.113898766C>G, NM_001008895.4:c.1271C>G, NM_001008895.3:c.1271C>G, NM_001008895.2:c.1271C>G, NM_003589.4:c.971C>G, NM_003589.3:c.971C>G, NM_003589.2:c.971C>G, NM_001278513.3:c.971C>G, NM_001278513.2:c.971C>G, NM_001278513.1:c.971C>G, NM_001278514.3:c.995C>G, NM_001278514.2:c.995C>G, NM_001278514.1:c.995C>G, NM_001354941.2:c.836C>G, NM_001354941.1:c.836C>G, NM_001354942.2:c.836C>G, NM_001354942.1:c.836C>G, NM_001354940.2:c.971C>G, NM_001354940.1:c.971C>G, NM_001354939.2:c.971C>G, NM_001354939.1:c.971C>G, NM_001354938.2:c.971C>G, NM_001354938.1:c.971C>G, NP_001008895.1:p.Ala424Gly, NP_003580.1:p.Ala324Gly, NP_001265442.1:p.Ala324Gly, NP_001265443.1:p.Ala332Gly, NP_001341870.1:p.Ala279Gly, NP_001341871.1:p.Ala279Gly, NP_001341869.1:p.Ala324Gly, NP_001341868.1:p.Ala324Gly, NP_001341867.1:p.Ala324Gly

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