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Items: 1 to 20 of 1664

1.

rs1491268880 has merged into rs199885013 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
    Chromosome:
    3:32955550 (GRCh38)
    3:32997042 (GRCh37)
    Canonical SPDI:
    NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32955537:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
    Gene:
    CCR4 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    -=0.2444/1224 (1000Genomes)
    HGVS:
    NC_000003.12:g.32955550_32955555del, NC_000003.12:g.32955551_32955555del, NC_000003.12:g.32955552_32955555del, NC_000003.12:g.32955553_32955555del, NC_000003.12:g.32955554_32955555del, NC_000003.12:g.32955555del, NC_000003.12:g.32955555dup, NC_000003.12:g.32955554_32955555dup, NC_000003.12:g.32955553_32955555dup, NC_000003.12:g.32955552_32955555dup, NC_000003.11:g.32997042_32997047del, NC_000003.11:g.32997043_32997047del, NC_000003.11:g.32997044_32997047del, NC_000003.11:g.32997045_32997047del, NC_000003.11:g.32997046_32997047del, NC_000003.11:g.32997047del, NC_000003.11:g.32997047dup, NC_000003.11:g.32997046_32997047dup, NC_000003.11:g.32997045_32997047dup, NC_000003.11:g.32997044_32997047dup, NM_005508.5:c.*1045_*1050del, NM_005508.5:c.*1046_*1050del, NM_005508.5:c.*1047_*1050del, NM_005508.5:c.*1048_*1050del, NM_005508.5:c.*1049_*1050del, NM_005508.5:c.*1050del, NM_005508.5:c.*1050dup, NM_005508.5:c.*1049_*1050dup, NM_005508.5:c.*1048_*1050dup, NM_005508.5:c.*1047_*1050dup
    2.

    rs1491160112 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      3:32955537 (GRCh38)
      3:32997029 (GRCh37)
      Canonical SPDI:
      NC_000003.12:32955536:CA:
      Gene:
      CCR4 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1490147567 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        3:32955515 (GRCh38)
        3:32997007 (GRCh37)
        Canonical SPDI:
        NC_000003.12:32955514:C:A
        Gene:
        CCR4 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.00898/146 (ALFA)
        A=0.00091/4 (Estonian)
        A=0.02913/85 (KOREAN)
        HGVS:
        4.

        rs1489861930 has merged into rs1191713351 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          3:32955616 (GRCh38)
          3:32997108 (GRCh37)
          Canonical SPDI:
          NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32955604:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          CCR4 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000003.12:g.32955616_32955627del, NC_000003.12:g.32955617_32955627del, NC_000003.12:g.32955619_32955627del, NC_000003.12:g.32955621_32955627del, NC_000003.12:g.32955622_32955627del, NC_000003.12:g.32955623_32955627del, NC_000003.12:g.32955625_32955627del, NC_000003.12:g.32955626_32955627del, NC_000003.12:g.32955627del, NC_000003.12:g.32955627dup, NC_000003.12:g.32955626_32955627dup, NC_000003.12:g.32955625_32955627dup, NC_000003.12:g.32955624_32955627dup, NC_000003.12:g.32955623_32955627dup, NC_000003.12:g.32955622_32955627dup, NC_000003.12:g.32955621_32955627dup, NC_000003.12:g.32955620_32955627dup, NC_000003.12:g.32955619_32955627dup, NC_000003.12:g.32955618_32955627dup, NC_000003.12:g.32955617_32955627dup, NC_000003.12:g.32955616_32955627dup, NC_000003.12:g.32955615_32955627dup, NC_000003.12:g.32955614_32955627dup, NC_000003.12:g.32955611_32955627dup, NC_000003.12:g.32955627_32955628insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.32955627_32955628insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.32997108_32997119del, NC_000003.11:g.32997109_32997119del, NC_000003.11:g.32997111_32997119del, NC_000003.11:g.32997113_32997119del, NC_000003.11:g.32997114_32997119del, NC_000003.11:g.32997115_32997119del, NC_000003.11:g.32997117_32997119del, NC_000003.11:g.32997118_32997119del, NC_000003.11:g.32997119del, NC_000003.11:g.32997119dup, NC_000003.11:g.32997118_32997119dup, NC_000003.11:g.32997117_32997119dup, NC_000003.11:g.32997116_32997119dup, NC_000003.11:g.32997115_32997119dup, NC_000003.11:g.32997114_32997119dup, NC_000003.11:g.32997113_32997119dup, NC_000003.11:g.32997112_32997119dup, NC_000003.11:g.32997111_32997119dup, NC_000003.11:g.32997110_32997119dup, NC_000003.11:g.32997109_32997119dup, NC_000003.11:g.32997108_32997119dup, NC_000003.11:g.32997107_32997119dup, NC_000003.11:g.32997106_32997119dup, NC_000003.11:g.32997103_32997119dup, NC_000003.11:g.32997119_32997120insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.32997119_32997120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_005508.5:c.*1111_*1122del, NM_005508.5:c.*1112_*1122del, NM_005508.5:c.*1114_*1122del, NM_005508.5:c.*1116_*1122del, NM_005508.5:c.*1117_*1122del, NM_005508.5:c.*1118_*1122del, NM_005508.5:c.*1120_*1122del, NM_005508.5:c.*1121_*1122del, NM_005508.5:c.*1122del, NM_005508.5:c.*1122dup, NM_005508.5:c.*1121_*1122dup, NM_005508.5:c.*1120_*1122dup, NM_005508.5:c.*1119_*1122dup, NM_005508.5:c.*1118_*1122dup, NM_005508.5:c.*1117_*1122dup, NM_005508.5:c.*1116_*1122dup, NM_005508.5:c.*1115_*1122dup, NM_005508.5:c.*1114_*1122dup, NM_005508.5:c.*1113_*1122dup, NM_005508.5:c.*1112_*1122dup, NM_005508.5:c.*1111_*1122dup, NM_005508.5:c.*1110_*1122dup, NM_005508.5:c.*1109_*1122dup, NM_005508.5:c.*1106_*1122dup, NM_005508.5:c.*1122_*1123insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_005508.5:c.*1122_*1123insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          5.

          rs1489313927 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            3:32953012 (GRCh38)
            3:32994504 (GRCh37)
            Canonical SPDI:
            NC_000003.12:32953011:C:A
            Gene:
            CCR4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488150488 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:32952906 (GRCh38)
              3:32994398 (GRCh37)
              Canonical SPDI:
              NC_000003.12:32952905:C:G
              Gene:
              CCR4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488017824 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:32950967 (GRCh38)
                3:32992459 (GRCh37)
                Canonical SPDI:
                NC_000003.12:32950966:A:G
                Gene:
                CCR4 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.00004/1 (TOMMO)
                HGVS:
                8.

                rs1486927075 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  3:32955579 (GRCh38)
                  3:32997071 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:32955578:T:A
                  Gene:
                  CCR4 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/1 (GnomAD)
                  A=0.013374/39 (KOREAN)
                  HGVS:
                  9.

                  rs1486229622 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:32954294 (GRCh38)
                    3:32995786 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:32954293:C:T
                    Gene:
                    CCR4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1486193227 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      3:32955362 (GRCh38)
                      3:32996854 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:32955361:C:A,NC_000003.12:32955361:C:G
                      Gene:
                      CCR4 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1485353022 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:32954131 (GRCh38)
                        3:32995623 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:32954130:A:G
                        Gene:
                        CCR4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1484949513 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:32951992 (GRCh38)
                          3:32993484 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:32951991:C:A
                          Gene:
                          CCR4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1484210333 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            3:32954522 (GRCh38)
                            3:32996014 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:32954521:A:C,NC_000003.12:32954521:A:G
                            Gene:
                            CCR4 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000066/1 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1483965357 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:32951373 (GRCh38)
                              3:32992865 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:32951372:A:G
                              Gene:
                              CCR4 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000019/5 (TOPMED)
                              HGVS:
                              15.

                              rs1483665861 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAG>- [Show Flanks]
                                Chromosome:
                                3:32952702 (GRCh38)
                                3:32994194 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:32952698:AAGAAG:AAG
                                Gene:
                                CCR4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAGAAG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483024251 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  3:32950258 (GRCh38)
                                  3:32991750 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:32950257:T:A,NC_000003.12:32950257:T:C
                                  Gene:
                                  CCR4 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  C=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1482746307 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:32954937 (GRCh38)
                                    3:32996429 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:32954936:A:G
                                    Gene:
                                    CCR4 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482060982 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:32952176 (GRCh38)
                                      3:32993668 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:32952175:T:C
                                      Gene:
                                      CCR4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1482007233 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        3:32953126 (GRCh38)
                                        3:32994618 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:32953125:A:C
                                        Gene:
                                        CCR4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481905824 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:32955555 (GRCh38)
                                          3:32997047 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:32955554:A:G
                                          Gene:
                                          CCR4 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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