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Items: 1 to 20 of 21107

1.

rs1491580789 has merged into rs199684582 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>-,TATA,TATATA,TATATATA [Show Flanks]
    Chromosome:
    6:20465820 (GRCh38)
    6:20466051 (GRCh37)
    Canonical SPDI:
    NC_000006.12:20465808:ATATATATATATA:ATATATATATA,NC_000006.12:20465808:ATATATATATATA:ATATATATATATATA,NC_000006.12:20465808:ATATATATATATA:ATATATATATATATATA,NC_000006.12:20465808:ATATATATATATA:ATATATATATATATATATA
    Gene:
    E2F3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATATATATA=0./0 (ALFA)
    AT=0.003571/16 (Estonian)
    AT=0.025/1 (GENOME_DK)
    AT=0.026667/16 (NorthernSweden)
    AT=0.058406/107 (Korea1K)
    AT=0.061222/1026 (TOMMO)
    AT=0.086373/22862 (TOPMED)
    AT=0.093458/20 (Vietnamese)
    AT=0.108427/543 (1000Genomes)
    HGVS:
    2.

    rs1491562586 has merged into rs1253677474 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA [Show Flanks]
      Chromosome:
      6:20436486 (GRCh38)
      6:20436717 (GRCh37)
      Canonical SPDI:
      NC_000006.12:20436478:AGAGAGAGAGAGAGAGA:AGAGAGA,NC_000006.12:20436478:AGAGAGAGAGAGAGAGA:AGAGAGAGA,NC_000006.12:20436478:AGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000006.12:20436478:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000006.12:20436478:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000006.12:20436478:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
      Gene:
      E2F3 (Varview), E2F3-IT1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGAGAGAGA=0./0 (ALFA)
      HGVS:
      3.

      rs1491488936 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        6:20472025 (GRCh38)
        6:20472256 (GRCh37)
        Canonical SPDI:
        NC_000006.12:20472024:AA:
        Gene:
        E2F3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.00007/1 (TOMMO)
        HGVS:
        4.

        rs1491476500 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->CG
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491476434 has merged into rs1554140461 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TC>-,TCTC [Show Flanks]
            Chromosome:
            6:20472070 (GRCh38)
            6:20472301 (GRCh37)
            Canonical SPDI:
            NC_000006.12:20472068:CTC:C,NC_000006.12:20472068:CTC:CTCTC
            Gene:
            E2F3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CTCTC=0./0 (ALFA)
            HGVS:
            6.

            rs1491458209 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->AG
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491410953 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                6:20405344 (GRCh38)
                6:20405575 (GRCh37)
                Canonical SPDI:
                NC_000006.12:20405343:AT:
                Gene:
                E2F3 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1491400502 has merged into rs150647270 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  6:20405357 (GRCh38)
                  6:20405588 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20405344:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  E2F3 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTT=0./0 (ALFA)
                  TT=0.3574/1790 (1000Genomes)
                  HGVS:
                  NC_000006.12:g.20405357_20405364del, NC_000006.12:g.20405359_20405364del, NC_000006.12:g.20405360_20405364del, NC_000006.12:g.20405361_20405364del, NC_000006.12:g.20405362_20405364del, NC_000006.12:g.20405363_20405364del, NC_000006.12:g.20405364del, NC_000006.12:g.20405364dup, NC_000006.12:g.20405363_20405364dup, NC_000006.12:g.20405362_20405364dup, NC_000006.12:g.20405361_20405364dup, NC_000006.12:g.20405360_20405364dup, NC_000006.12:g.20405359_20405364dup, NC_000006.12:g.20405358_20405364dup, NC_000006.11:g.20405588_20405595del, NC_000006.11:g.20405590_20405595del, NC_000006.11:g.20405591_20405595del, NC_000006.11:g.20405592_20405595del, NC_000006.11:g.20405593_20405595del, NC_000006.11:g.20405594_20405595del, NC_000006.11:g.20405595del, NC_000006.11:g.20405595dup, NC_000006.11:g.20405594_20405595dup, NC_000006.11:g.20405593_20405595dup, NC_000006.11:g.20405592_20405595dup, NC_000006.11:g.20405591_20405595dup, NC_000006.11:g.20405590_20405595dup, NC_000006.11:g.20405589_20405595dup, NG_029591.1:g.8452_8459del, NG_029591.1:g.8454_8459del, NG_029591.1:g.8455_8459del, NG_029591.1:g.8456_8459del, NG_029591.1:g.8457_8459del, NG_029591.1:g.8458_8459del, NG_029591.1:g.8459del, NG_029591.1:g.8459dup, NG_029591.1:g.8458_8459dup, NG_029591.1:g.8457_8459dup, NG_029591.1:g.8456_8459dup, NG_029591.1:g.8455_8459dup, NG_029591.1:g.8454_8459dup, NG_029591.1:g.8453_8459dup
                  9.

                  rs1491378203 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TG>- [Show Flanks]
                    Chromosome:
                    6:20405364 (GRCh38)
                    6:20405595 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:20405363:TG:
                    Gene:
                    E2F3 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.042279/690 (ALFA)
                    -=0.006207/621 (GnomAD)
                    -=0.008281/139 (TOMMO)
                    HGVS:
                    10.

                    rs1491362676 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      6:20441997 (GRCh38)
                      6:20442228 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:20441996:CT:
                      Gene:
                      E2F3 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000022/3 (GnomAD)
                      HGVS:
                      11.

                      rs1491313598 has merged into rs148425868 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
                        Chromosome:
                        6:20482612 (GRCh38)
                        6:20482843 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000006.12:20482599:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT
                        Gene:
                        E2F3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ATATATATATATAT=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        -=0.341653/1711 (1000Genomes)
                        HGVS:
                        12.

                        rs1491309998 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          6:20482590 (GRCh38)
                          6:20482821 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:20482589:GA:
                          Gene:
                          E2F3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491304107 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            6:20436495 (GRCh38)
                            6:20436727 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:20436495::G
                            Gene:
                            E2F3 (Varview), E2F3-IT1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.00006/4 (GnomAD)
                            HGVS:
                            14.

                            rs1491203232 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->TTA
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1491148815 has merged into rs780366667 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                6:20462869 (GRCh38)
                                6:20463100 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20462859:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                E2F3 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTT=0./0 (ALFA)
                                TTTTTTTTTTTTTTTTTTT=0./0 (GENOME_DK)
                                HGVS:
                                NC_000006.12:g.20462869_20462896del, NC_000006.12:g.20462872_20462896del, NC_000006.12:g.20462874_20462896del, NC_000006.12:g.20462875_20462896del, NC_000006.12:g.20462876_20462896del, NC_000006.12:g.20462877_20462896del, NC_000006.12:g.20462878_20462896del, NC_000006.12:g.20462879_20462896del, NC_000006.12:g.20462880_20462896del, NC_000006.12:g.20462881_20462896del, NC_000006.12:g.20462882_20462896del, NC_000006.12:g.20462883_20462896del, NC_000006.12:g.20462884_20462896del, NC_000006.12:g.20462885_20462896del, NC_000006.12:g.20462886_20462896del, NC_000006.12:g.20462887_20462896del, NC_000006.12:g.20462888_20462896del, NC_000006.12:g.20462889_20462896del, NC_000006.12:g.20462890_20462896del, NC_000006.12:g.20462891_20462896del, NC_000006.12:g.20462892_20462896del, NC_000006.12:g.20462893_20462896del, NC_000006.12:g.20462894_20462896del, NC_000006.12:g.20462895_20462896del, NC_000006.12:g.20462896del, NC_000006.12:g.20462896dup, NC_000006.12:g.20462895_20462896dup, NC_000006.12:g.20462894_20462896dup, NC_000006.12:g.20462893_20462896dup, NC_000006.12:g.20462892_20462896dup, NC_000006.12:g.20462891_20462896dup, NC_000006.12:g.20462890_20462896dup, NC_000006.12:g.20462889_20462896dup, NC_000006.12:g.20462888_20462896dup, NC_000006.12:g.20462887_20462896dup, NC_000006.11:g.20463100_20463127del, NC_000006.11:g.20463103_20463127del, NC_000006.11:g.20463105_20463127del, NC_000006.11:g.20463106_20463127del, NC_000006.11:g.20463107_20463127del, NC_000006.11:g.20463108_20463127del, NC_000006.11:g.20463109_20463127del, NC_000006.11:g.20463110_20463127del, NC_000006.11:g.20463111_20463127del, NC_000006.11:g.20463112_20463127del, NC_000006.11:g.20463113_20463127del, NC_000006.11:g.20463114_20463127del, NC_000006.11:g.20463115_20463127del, NC_000006.11:g.20463116_20463127del, NC_000006.11:g.20463117_20463127del, NC_000006.11:g.20463118_20463127del, NC_000006.11:g.20463119_20463127del, NC_000006.11:g.20463120_20463127del, NC_000006.11:g.20463121_20463127del, NC_000006.11:g.20463122_20463127del, NC_000006.11:g.20463123_20463127del, NC_000006.11:g.20463124_20463127del, NC_000006.11:g.20463125_20463127del, NC_000006.11:g.20463126_20463127del, NC_000006.11:g.20463127del, NC_000006.11:g.20463127dup, NC_000006.11:g.20463126_20463127dup, NC_000006.11:g.20463125_20463127dup, NC_000006.11:g.20463124_20463127dup, NC_000006.11:g.20463123_20463127dup, NC_000006.11:g.20463122_20463127dup, NC_000006.11:g.20463121_20463127dup, NC_000006.11:g.20463120_20463127dup, NC_000006.11:g.20463119_20463127dup, NC_000006.11:g.20463118_20463127dup, NG_029591.1:g.65964_65991del, NG_029591.1:g.65967_65991del, NG_029591.1:g.65969_65991del, NG_029591.1:g.65970_65991del, NG_029591.1:g.65971_65991del, NG_029591.1:g.65972_65991del, NG_029591.1:g.65973_65991del, NG_029591.1:g.65974_65991del, NG_029591.1:g.65975_65991del, NG_029591.1:g.65976_65991del, NG_029591.1:g.65977_65991del, NG_029591.1:g.65978_65991del, NG_029591.1:g.65979_65991del, NG_029591.1:g.65980_65991del, NG_029591.1:g.65981_65991del, NG_029591.1:g.65982_65991del, NG_029591.1:g.65983_65991del, NG_029591.1:g.65984_65991del, NG_029591.1:g.65985_65991del, NG_029591.1:g.65986_65991del, NG_029591.1:g.65987_65991del, NG_029591.1:g.65988_65991del, NG_029591.1:g.65989_65991del, NG_029591.1:g.65990_65991del, NG_029591.1:g.65991del, NG_029591.1:g.65991dup, NG_029591.1:g.65990_65991dup, NG_029591.1:g.65989_65991dup, NG_029591.1:g.65988_65991dup, NG_029591.1:g.65987_65991dup, NG_029591.1:g.65986_65991dup, NG_029591.1:g.65985_65991dup, NG_029591.1:g.65984_65991dup, NG_029591.1:g.65983_65991dup, NG_029591.1:g.65982_65991dup
                                16.

                                rs1491143289 has merged into rs57286350 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                                  Chromosome:
                                  6:20424223 (GRCh38)
                                  6:20424454 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:20424210:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                                  Gene:
                                  E2F3 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GTGTGTGTGTGT=0./0 (ALFA)
                                  GT=0.3488/1747 (1000Genomes)
                                  HGVS:
                                  NC_000006.12:g.20424211GT[6], NC_000006.12:g.20424211GT[7], NC_000006.12:g.20424211GT[8], NC_000006.12:g.20424211GT[9], NC_000006.12:g.20424211GT[10], NC_000006.12:g.20424211GT[11], NC_000006.12:g.20424211GT[12], NC_000006.12:g.20424211GT[13], NC_000006.12:g.20424211GT[14], NC_000006.12:g.20424211GT[15], NC_000006.12:g.20424211GT[16], NC_000006.12:g.20424211GT[17], NC_000006.12:g.20424211GT[18], NC_000006.12:g.20424211GT[19], NC_000006.12:g.20424211GT[21], NC_000006.12:g.20424211GT[22], NC_000006.12:g.20424211GT[23], NC_000006.12:g.20424211GT[24], NC_000006.12:g.20424211GT[25], NC_000006.12:g.20424211GT[26], NC_000006.12:g.20424211GT[27], NC_000006.12:g.20424211GT[28], NC_000006.11:g.20424442GT[6], NC_000006.11:g.20424442GT[7], NC_000006.11:g.20424442GT[8], NC_000006.11:g.20424442GT[9], NC_000006.11:g.20424442GT[10], NC_000006.11:g.20424442GT[11], NC_000006.11:g.20424442GT[12], NC_000006.11:g.20424442GT[13], NC_000006.11:g.20424442GT[14], NC_000006.11:g.20424442GT[15], NC_000006.11:g.20424442GT[16], NC_000006.11:g.20424442GT[17], NC_000006.11:g.20424442GT[18], NC_000006.11:g.20424442GT[19], NC_000006.11:g.20424442GT[21], NC_000006.11:g.20424442GT[22], NC_000006.11:g.20424442GT[23], NC_000006.11:g.20424442GT[24], NC_000006.11:g.20424442GT[25], NC_000006.11:g.20424442GT[26], NC_000006.11:g.20424442GT[27], NC_000006.11:g.20424442GT[28], NG_029591.1:g.27306GT[6], NG_029591.1:g.27306GT[7], NG_029591.1:g.27306GT[8], NG_029591.1:g.27306GT[9], NG_029591.1:g.27306GT[10], NG_029591.1:g.27306GT[11], NG_029591.1:g.27306GT[12], NG_029591.1:g.27306GT[13], NG_029591.1:g.27306GT[14], NG_029591.1:g.27306GT[15], NG_029591.1:g.27306GT[16], NG_029591.1:g.27306GT[17], NG_029591.1:g.27306GT[18], NG_029591.1:g.27306GT[19], NG_029591.1:g.27306GT[21], NG_029591.1:g.27306GT[22], NG_029591.1:g.27306GT[23], NG_029591.1:g.27306GT[24], NG_029591.1:g.27306GT[25], NG_029591.1:g.27306GT[26], NG_029591.1:g.27306GT[27], NG_029591.1:g.27306GT[28]
                                  17.

                                  rs1491100576 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    CC>-
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:
                                    18.

                                    rs1491076653 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TA>- [Show Flanks]
                                      Chromosome:
                                      6:20420466 (GRCh38)
                                      6:20420697 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:20420463:TATA:TA
                                      Gene:
                                      E2F3 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TATA=0.000337/4 (ALFA)
                                      -=0.000468/3 (1000Genomes)
                                      -=0.00049/67 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1491035963 has merged into rs60238519 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        6:20457357 (GRCh38)
                                        6:20457588 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:20457348:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        E2F3 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTT=0./0 (ALFA)
                                        HGVS:
                                        NC_000006.12:g.20457357_20457368del, NC_000006.12:g.20457358_20457368del, NC_000006.12:g.20457359_20457368del, NC_000006.12:g.20457360_20457368del, NC_000006.12:g.20457362_20457368del, NC_000006.12:g.20457363_20457368del, NC_000006.12:g.20457364_20457368del, NC_000006.12:g.20457366_20457368del, NC_000006.12:g.20457367_20457368del, NC_000006.12:g.20457368del, NC_000006.12:g.20457368dup, NC_000006.12:g.20457367_20457368dup, NC_000006.12:g.20457366_20457368dup, NC_000006.12:g.20457365_20457368dup, NC_000006.12:g.20457364_20457368dup, NC_000006.12:g.20457363_20457368dup, NC_000006.12:g.20457362_20457368dup, NC_000006.12:g.20457361_20457368dup, NC_000006.12:g.20457360_20457368dup, NC_000006.12:g.20457359_20457368dup, NC_000006.12:g.20457358_20457368dup, NC_000006.12:g.20457357_20457368dup, NC_000006.12:g.20457356_20457368dup, NC_000006.11:g.20457588_20457599del, NC_000006.11:g.20457589_20457599del, NC_000006.11:g.20457590_20457599del, NC_000006.11:g.20457591_20457599del, NC_000006.11:g.20457593_20457599del, NC_000006.11:g.20457594_20457599del, NC_000006.11:g.20457595_20457599del, NC_000006.11:g.20457597_20457599del, NC_000006.11:g.20457598_20457599del, NC_000006.11:g.20457599del, NC_000006.11:g.20457599dup, NC_000006.11:g.20457598_20457599dup, NC_000006.11:g.20457597_20457599dup, NC_000006.11:g.20457596_20457599dup, NC_000006.11:g.20457595_20457599dup, NC_000006.11:g.20457594_20457599dup, NC_000006.11:g.20457593_20457599dup, NC_000006.11:g.20457592_20457599dup, NC_000006.11:g.20457591_20457599dup, NC_000006.11:g.20457590_20457599dup, NC_000006.11:g.20457589_20457599dup, NC_000006.11:g.20457588_20457599dup, NC_000006.11:g.20457587_20457599dup, NG_029591.1:g.60452_60463del, NG_029591.1:g.60453_60463del, NG_029591.1:g.60454_60463del, NG_029591.1:g.60455_60463del, NG_029591.1:g.60457_60463del, NG_029591.1:g.60458_60463del, NG_029591.1:g.60459_60463del, NG_029591.1:g.60461_60463del, NG_029591.1:g.60462_60463del, NG_029591.1:g.60463del, NG_029591.1:g.60463dup, NG_029591.1:g.60462_60463dup, NG_029591.1:g.60461_60463dup, NG_029591.1:g.60460_60463dup, NG_029591.1:g.60459_60463dup, NG_029591.1:g.60458_60463dup, NG_029591.1:g.60457_60463dup, NG_029591.1:g.60456_60463dup, NG_029591.1:g.60455_60463dup, NG_029591.1:g.60454_60463dup, NG_029591.1:g.60453_60463dup, NG_029591.1:g.60452_60463dup, NG_029591.1:g.60451_60463dup

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