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Items: 1 to 20 of 487

1.

rs1491023604 has merged into rs34247749 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    4:86913834 (GRCh38)
    4:87834987 (GRCh37)
    Canonical SPDI:
    NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    -=0.00003/8 (TOPMED)
    -=0.053398/198 (TWINSUK)
    -=0.056565/218 (ALSPAC)
    T=0.475/19 (GENOME_DK)
    HGVS:
    NC_000004.12:g.86913834_86913846del, NC_000004.12:g.86913836_86913846del, NC_000004.12:g.86913837_86913846del, NC_000004.12:g.86913839_86913846del, NC_000004.12:g.86913840_86913846del, NC_000004.12:g.86913841_86913846del, NC_000004.12:g.86913842_86913846del, NC_000004.12:g.86913843_86913846del, NC_000004.12:g.86913844_86913846del, NC_000004.12:g.86913845_86913846del, NC_000004.12:g.86913846del, NC_000004.12:g.86913846dup, NC_000004.12:g.86913845_86913846dup, NC_000004.12:g.86913844_86913846dup, NC_000004.12:g.86913843_86913846dup, NC_000004.12:g.86913842_86913846dup, NC_000004.11:g.87834987_87834999del, NC_000004.11:g.87834989_87834999del, NC_000004.11:g.87834990_87834999del, NC_000004.11:g.87834992_87834999del, NC_000004.11:g.87834993_87834999del, NC_000004.11:g.87834994_87834999del, NC_000004.11:g.87834995_87834999del, NC_000004.11:g.87834996_87834999del, NC_000004.11:g.87834997_87834999del, NC_000004.11:g.87834998_87834999del, NC_000004.11:g.87834999del, NC_000004.11:g.87834999dup, NC_000004.11:g.87834998_87834999dup, NC_000004.11:g.87834997_87834999dup, NC_000004.11:g.87834996_87834999dup, NC_000004.11:g.87834995_87834999dup, NG_002355.5:g.1180_1192del, NG_002355.5:g.1182_1192del, NG_002355.5:g.1183_1192del, NG_002355.5:g.1185_1192del, NG_002355.5:g.1186_1192del, NG_002355.5:g.1187_1192del, NG_002355.5:g.1188_1192del, NG_002355.5:g.1189_1192del, NG_002355.5:g.1190_1192del, NG_002355.5:g.1191_1192del, NG_002355.5:g.1192del, NG_002355.5:g.1192dup, NG_002355.5:g.1191_1192dup, NG_002355.5:g.1190_1192dup, NG_002355.5:g.1189_1192dup, NG_002355.5:g.1188_1192dup
    2.

    rs1490145637 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:86913919 (GRCh38)
      4:87835072 (GRCh37)
      Canonical SPDI:
      NC_000004.12:86913918:G:A
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1488640317 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        4:86914608 (GRCh38)
        4:87835761 (GRCh37)
        Canonical SPDI:
        NC_000004.12:86914607:G:C
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1488173319 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:86913632 (GRCh38)
          4:87834785 (GRCh37)
          Canonical SPDI:
          NC_000004.12:86913631:G:A
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1487302704 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            4:86914510 (GRCh38)
            4:87835663 (GRCh37)
            Canonical SPDI:
            NC_000004.12:86914509:C:T
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000084/1 (ALFA)
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1487233323 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:86914602 (GRCh38)
              4:87835755 (GRCh37)
              Canonical SPDI:
              NC_000004.12:86914601:C:T
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1483799746 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                4:86914312 (GRCh38)
                4:87835465 (GRCh37)
                Canonical SPDI:
                NC_000004.12:86914311:C:T
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1483202548 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:86914846 (GRCh38)
                  4:87835999 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:86914845:C:T
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1483109130 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:86914975 (GRCh38)
                    4:87836128 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:86914974:A:G
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1482218779 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      4:86913891 (GRCh38)
                      4:87835044 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:86913890:C:T
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000198/3 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1482160781 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->AAAA [Show Flanks]
                        Chromosome:
                        4:86913061 (GRCh38)
                        4:87834215 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:86913061:AA:AAAAAA
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AAAAAA=0.0002/1 (ALFA)
                        HGVS:
                        12.

                        rs1481599338 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:86913148 (GRCh38)
                          4:87834301 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:86913147:A:G
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          G=0.000342/1 (KOREAN)
                          HGVS:
                          13.

                          rs1480649531 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:86913140 (GRCh38)
                            4:87834293 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:86913139:G:A
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1480101927 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:86914734 (GRCh38)
                              4:87835887 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:86914733:T:C
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1480073730 has merged into rs35027808 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                4:86914400 (GRCh38)
                                4:87835553 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTT=0./0 (ALFA)
                                TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0034/2 (NorthernSweden)
                                HGVS:
                                NC_000004.12:g.86914400_86914418del, NC_000004.12:g.86914403_86914418del, NC_000004.12:g.86914404_86914418del, NC_000004.12:g.86914405_86914418del, NC_000004.12:g.86914406_86914418del, NC_000004.12:g.86914407_86914418del, NC_000004.12:g.86914408_86914418del, NC_000004.12:g.86914409_86914418del, NC_000004.12:g.86914410_86914418del, NC_000004.12:g.86914411_86914418del, NC_000004.12:g.86914412_86914418del, NC_000004.12:g.86914413_86914418del, NC_000004.12:g.86914414_86914418del, NC_000004.12:g.86914415_86914418del, NC_000004.12:g.86914416_86914418del, NC_000004.12:g.86914417_86914418del, NC_000004.12:g.86914418del, NC_000004.12:g.86914418dup, NC_000004.12:g.86914417_86914418dup, NC_000004.12:g.86914416_86914418dup, NC_000004.12:g.86914415_86914418dup, NC_000004.12:g.86914414_86914418dup, NC_000004.12:g.86914413_86914418dup, NC_000004.12:g.86914412_86914418dup, NC_000004.12:g.86914410_86914418dup, NC_000004.12:g.86914406_86914418dup, NC_000004.12:g.86914395_86914418dup, NC_000004.12:g.86914392_86914418dup, NC_000004.11:g.87835553_87835571del, NC_000004.11:g.87835556_87835571del, NC_000004.11:g.87835557_87835571del, NC_000004.11:g.87835558_87835571del, NC_000004.11:g.87835559_87835571del, NC_000004.11:g.87835560_87835571del, NC_000004.11:g.87835561_87835571del, NC_000004.11:g.87835562_87835571del, NC_000004.11:g.87835563_87835571del, NC_000004.11:g.87835564_87835571del, NC_000004.11:g.87835565_87835571del, NC_000004.11:g.87835566_87835571del, NC_000004.11:g.87835567_87835571del, NC_000004.11:g.87835568_87835571del, NC_000004.11:g.87835569_87835571del, NC_000004.11:g.87835570_87835571del, NC_000004.11:g.87835571del, NC_000004.11:g.87835571dup, NC_000004.11:g.87835570_87835571dup, NC_000004.11:g.87835569_87835571dup, NC_000004.11:g.87835568_87835571dup, NC_000004.11:g.87835567_87835571dup, NC_000004.11:g.87835566_87835571dup, NC_000004.11:g.87835565_87835571dup, NC_000004.11:g.87835563_87835571dup, NC_000004.11:g.87835559_87835571dup, NC_000004.11:g.87835548_87835571dup, NC_000004.11:g.87835545_87835571dup, NG_002355.5:g.608_626del, NG_002355.5:g.611_626del, NG_002355.5:g.612_626del, NG_002355.5:g.613_626del, NG_002355.5:g.614_626del, NG_002355.5:g.615_626del, NG_002355.5:g.616_626del, NG_002355.5:g.617_626del, NG_002355.5:g.618_626del, NG_002355.5:g.619_626del, NG_002355.5:g.620_626del, NG_002355.5:g.621_626del, NG_002355.5:g.622_626del, NG_002355.5:g.623_626del, NG_002355.5:g.624_626del, NG_002355.5:g.625_626del, NG_002355.5:g.626del, NG_002355.5:g.626dup, NG_002355.5:g.625_626dup, NG_002355.5:g.624_626dup, NG_002355.5:g.623_626dup, NG_002355.5:g.622_626dup, NG_002355.5:g.621_626dup, NG_002355.5:g.620_626dup, NG_002355.5:g.618_626dup, NG_002355.5:g.614_626dup, NG_002355.5:g.603_626dup, NG_002355.5:g.600_626dup
                                16.

                                rs1480042806 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  4:86913548 (GRCh38)
                                  4:87834701 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:86913547:G:C
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1479673948 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    4:86913637 (GRCh38)
                                    4:87834790 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:86913636:C:G,NC_000004.12:86913636:C:T
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1478345947 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:86914061 (GRCh38)
                                      4:87835214 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:86914060:G:A
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1477512579 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        4:86913043 (GRCh38)
                                        4:87834196 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:86913042:AAAAA:AAAA
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        AAAA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1474218984 has merged into rs1243491884 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTTT>-,TT,TTT,TTTTT [Show Flanks]
                                          Chromosome:
                                          4:86912919 (GRCh38)
                                          4:87834072 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTT,NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTTTTTTT
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTTTTTT=0./0 (ALFA)
                                          HGVS:

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