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Items: 1 to 20 of 15872

1.

rs1491535990 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TA
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491458901 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      >
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491341699 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        13:113234456 (GRCh38)
        13:113888770 (GRCh37)
        Canonical SPDI:
        NC_000013.11:113234454:TGT:T
        Gene:
        CUL4A (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1491297726 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          13:113261735 (GRCh38)
          13:113916049 (GRCh37)
          Canonical SPDI:
          NC_000013.11:113261734:AG:
          Gene:
          CUL4A (Varview), MIR8075 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.00059/7 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000156/1 (1000Genomes)
          -=0.000495/8 (TOMMO)
          -=0.001092/2 (Korea1K)
          HGVS:
          5.

          rs1491197619 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            13:113234455 (GRCh38)
            13:113888770 (GRCh37)
            Canonical SPDI:
            NC_000013.11:113234455:G:GG
            Gene:
            CUL4A (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1491171316 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A,CTTTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,T,TT,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTATTTTATTTTTTTTTCCTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              13:113256925 (GRCh38)
              13:113911240 (GRCh37)
              Canonical SPDI:
              NC_000013.11:113256925::A,NC_000013.11:113256925::CTTTTTTTTTTTT,NC_000013.11:113256925::CTTTTTTTTTTTTT,NC_000013.11:113256925::CTTTTTTTTTTTTTT,NC_000013.11:113256925::CTTTTTTTTTTTTTTT,NC_000013.11:113256925::T,NC_000013.11:113256925::TT,NC_000013.11:113256925::TTT,NC_000013.11:113256925::TTTTTTT,NC_000013.11:113256925::TTTTTTTT,NC_000013.11:113256925::TTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTATTTTATTTTTTTTTCCTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113256925::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              CUL4A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TT=0./0 (ALFA)
              HGVS:
              NC_000013.11:g.113256925_113256926insA, NC_000013.11:g.113256925_113256926insCTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insCTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insCTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insCTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insT, NC_000013.11:g.113256925_113256926insTT, NC_000013.11:g.113256925_113256926insTTT, NC_000013.11:g.113256925_113256926insTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTATTTTATTTTTTTTTCCTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.113256925_113256926insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insA, NC_000013.10:g.113911239_113911240insCTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insCTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insCTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insCTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insT, NC_000013.10:g.113911239_113911240insTT, NC_000013.10:g.113911239_113911240insTTT, NC_000013.10:g.113911239_113911240insTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTATTTTATTTTTTTTTCCTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.113911239_113911240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1491111303 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CC>- [Show Flanks]
                Chromosome:
                13:113262791 (GRCh38)
                13:113917105 (GRCh37)
                Canonical SPDI:
                NC_000013.11:113262789:CCC:C
                Gene:
                CUL4A (Varview), MIR8075 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.000248/4 (TOMMO)
                -=0.001142/160 (GnomAD)
                -=0.003279/21 (1000Genomes)
                HGVS:
                8.

                rs1490971791 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  13:113229132 (GRCh38)
                  13:113883446 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:113229130:AGA:A
                  Gene:
                  CUL4A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490945545 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:113229225 (GRCh38)
                    13:113883539 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:113229224:G:A
                    Gene:
                    CUL4A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490928521 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>-,GG [Show Flanks]
                      Chromosome:
                      13:113209304 (GRCh38)
                      13:113863618 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:113209303:GGGGG:GGGG,NC_000013.11:113209303:GGGGG:GGGGGG
                      Gene:
                      CUL4A (Varview), PCID2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GGGGGG=0./0 (ALFA)
                      -=0.00007/1 (TOMMO)
                      HGVS:
                      11.

                      rs1490902995 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:113209887 (GRCh38)
                        13:113864201 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:113209886:C:T
                        Gene:
                        CUL4A (Varview), PCID2 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000022/3 (GnomAD)
                        T=0.000142/2 (TOMMO)
                        T=0.000727/2 (KOREAN)
                        T=0.00113/2 (Korea1K)
                        HGVS:
                        12.

                        rs1490799916 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          13:113249257 (GRCh38)
                          13:113903571 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:113249256:T:A,NC_000013.11:113249256:T:C
                          Gene:
                          CUL4A (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490789701 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            13:113215858 (GRCh38)
                            13:113870172 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:113215857:G:T
                            Gene:
                            CUL4A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490715736 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              13:113233697 (GRCh38)
                              13:113888011 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:113233696:C:T
                              Gene:
                              CUL4A (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000318/5 (TOMMO)
                              T=0.000546/1 (Korea1K)
                              T=0.000684/2 (KOREAN)
                              HGVS:
                              15.

                              rs1490689401 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                13:113222330 (GRCh38)
                                13:113876644 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:113222329:G:C
                                Gene:
                                CUL4A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490625211 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  ->CGCG
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1490540081 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TC>- [Show Flanks]
                                    Chromosome:
                                    13:113255573 (GRCh38)
                                    13:113909887 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:113255570:TCTC:TC
                                    Gene:
                                    CUL4A (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TCTC=0./0 (ALFA)
                                    -=0.000021/3 (GnomAD)
                                    -=0.000053/14 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490479663 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      13:113240510 (GRCh38)
                                      13:113894824 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:113240509:T:C
                                      Gene:
                                      CUL4A (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490444194 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        13:113239619 (GRCh38)
                                        13:113893933 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:113239618:C:A,NC_000013.11:113239618:C:T
                                        Gene:
                                        CUL4A (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000042/11 (TOPMED)
                                        T=0.000043/6 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490332381 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          13:113222169 (GRCh38)
                                          13:113876483 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:113222168:A:G
                                          Gene:
                                          CUL4A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          G=0.000106/2 (TOMMO)
                                          HGVS:

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