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Items: 1 to 20 of 1000

1.

rs1491584722 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    18:25205141 (GRCh38)
    18:22785105 (GRCh37)
    Canonical SPDI:
    NC_000018.10:25205140:TA:
    Gene:
    ZNF521 (Varview), LOC124904270 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00008/1 (ALFA)
    HGVS:
    2.

    rs1491581162 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TAT,TATTAT [Show Flanks]
      Chromosome:
      18:25129262 (GRCh38)
      18:22709227 (GRCh37)
      Canonical SPDI:
      NC_000018.10:25129262:AT:ATTAT,NC_000018.10:25129262:AT:ATTATTAT
      Gene:
      ZNF521 (Varview), LOC124904269 (Varview)
      Functional Consequence:
      500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      ATTATTAT=0./0 (ALFA)
      HGVS:
      3.

      rs1491575059 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        18:25139372 (GRCh38)
        18:22719336 (GRCh37)
        Canonical SPDI:
        NC_000018.10:25139371:CA:
        Gene:
        ZNF521 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491573815 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          18:25283934 (GRCh38)
          18:22863899 (GRCh37)
          Canonical SPDI:
          NC_000018.10:25283934::C
          Gene:
          ZNF521 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          C=0.000009/1 (GnomAD)
          HGVS:
          5.

          rs1491566622 has merged into rs377173156 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
            Chromosome:
            18:25316336 (GRCh38)
            18:22896300 (GRCh37)
            Canonical SPDI:
            NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
            Gene:
            ZNF521 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAA=0./0 (ALFA)
            -=0.08251/318 (ALSPAC)
            -=0.09088/337 (TWINSUK)
            -=0.15056/754 (1000Genomes)
            -=0.275/11 (GENOME_DK)
            HGVS:
            6.

            rs1491555832 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              18:25348058 (GRCh38)
              18:22928023 (GRCh37)
              Canonical SPDI:
              NC_000018.10:25348058:TTTTT:TTTTTT
              Gene:
              ZNF521 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TTTTTT=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1491550903 has merged into rs34563599 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                18:25205153 (GRCh38)
                18:22785117 (GRCh37)
                Canonical SPDI:
                NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                ZNF521 (Varview), LOC124904270 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000018.10:g.25205153_25205171del, NC_000018.10:g.25205154_25205171del, NC_000018.10:g.25205155_25205171del, NC_000018.10:g.25205156_25205171del, NC_000018.10:g.25205157_25205171del, NC_000018.10:g.25205158_25205171del, NC_000018.10:g.25205159_25205171del, NC_000018.10:g.25205160_25205171del, NC_000018.10:g.25205161_25205171del, NC_000018.10:g.25205162_25205171del, NC_000018.10:g.25205163_25205171del, NC_000018.10:g.25205164_25205171del, NC_000018.10:g.25205165_25205171del, NC_000018.10:g.25205166_25205171del, NC_000018.10:g.25205167_25205171del, NC_000018.10:g.25205168_25205171del, NC_000018.10:g.25205169_25205171del, NC_000018.10:g.25205170_25205171del, NC_000018.10:g.25205171del, NC_000018.10:g.25205171dup, NC_000018.10:g.25205170_25205171dup, NC_000018.10:g.25205169_25205171dup, NC_000018.10:g.25205168_25205171dup, NC_000018.10:g.25205167_25205171dup, NC_000018.10:g.25205166_25205171dup, NC_000018.10:g.25205165_25205171dup, NC_000018.10:g.25205164_25205171dup, NC_000018.10:g.25205163_25205171dup, NC_000018.10:g.25205162_25205171dup, NC_000018.10:g.25205161_25205171dup, NC_000018.10:g.25205160_25205171dup, NC_000018.10:g.25205159_25205171dup, NC_000018.10:g.25205158_25205171dup, NC_000018.10:g.25205157_25205171dup, NC_000018.10:g.25205156_25205171dup, NC_000018.10:g.25205155_25205171dup, NC_000018.10:g.25205154_25205171dup, NC_000018.10:g.25205153_25205171dup, NC_000018.10:g.25205152_25205171dup, NC_000018.10:g.25205151_25205171dup, NC_000018.10:g.25205150_25205171dup, NC_000018.10:g.25205148_25205171dup, NC_000018.10:g.25205146_25205171dup, NC_000018.9:g.22785117_22785135del, NC_000018.9:g.22785118_22785135del, NC_000018.9:g.22785119_22785135del, NC_000018.9:g.22785120_22785135del, NC_000018.9:g.22785121_22785135del, NC_000018.9:g.22785122_22785135del, NC_000018.9:g.22785123_22785135del, NC_000018.9:g.22785124_22785135del, NC_000018.9:g.22785125_22785135del, NC_000018.9:g.22785126_22785135del, NC_000018.9:g.22785127_22785135del, NC_000018.9:g.22785128_22785135del, NC_000018.9:g.22785129_22785135del, NC_000018.9:g.22785130_22785135del, NC_000018.9:g.22785131_22785135del, NC_000018.9:g.22785132_22785135del, NC_000018.9:g.22785133_22785135del, NC_000018.9:g.22785134_22785135del, NC_000018.9:g.22785135del, NC_000018.9:g.22785135dup, NC_000018.9:g.22785134_22785135dup, NC_000018.9:g.22785133_22785135dup, NC_000018.9:g.22785132_22785135dup, NC_000018.9:g.22785131_22785135dup, NC_000018.9:g.22785130_22785135dup, NC_000018.9:g.22785129_22785135dup, NC_000018.9:g.22785128_22785135dup, NC_000018.9:g.22785127_22785135dup, NC_000018.9:g.22785126_22785135dup, NC_000018.9:g.22785125_22785135dup, NC_000018.9:g.22785124_22785135dup, NC_000018.9:g.22785123_22785135dup, NC_000018.9:g.22785122_22785135dup, NC_000018.9:g.22785121_22785135dup, NC_000018.9:g.22785120_22785135dup, NC_000018.9:g.22785119_22785135dup, NC_000018.9:g.22785118_22785135dup, NC_000018.9:g.22785117_22785135dup, NC_000018.9:g.22785116_22785135dup, NC_000018.9:g.22785115_22785135dup, NC_000018.9:g.22785114_22785135dup, NC_000018.9:g.22785112_22785135dup, NC_000018.9:g.22785110_22785135dup
                8.

                rs1491549815 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  18:25332347 (GRCh38)
                  18:22912311 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:25332346:CA:
                  Gene:
                  ZNF521 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491544332 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    18:25352170 (GRCh38)
                    18:22932135 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:25352170:A:AA
                    Gene:
                    ZNF521 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    HGVS:
                    10.

                    rs1491522558 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->GTGAAGGT [Show Flanks]
                      Chromosome:
                      18:25205142 (GRCh38)
                      18:22785107 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:25205142::GTGAAGGT
                      Gene:
                      ZNF521 (Varview), LOC124904270 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GTGAAGGT=0./0 (ALFA)
                      GTGAAGGT=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1491520068 has merged into rs71902592 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
                        Chromosome:
                        18:25322550 (GRCh38)
                        18:22902514 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        ZNF521 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAAA=0./0 (ALFA)
                        A=0.2115/1059 (1000Genomes)
                        HGVS:
                        12.

                        rs1491517153 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TCCA [Show Flanks]
                          Chromosome:
                          18:25219783 (GRCh38)
                          18:22799748 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:25219783:TCCA:TCCATCCA
                          Gene:
                          ZNF521 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TCCATCCA=0./0 (ALFA)
                          TCCA=0.000004/1 (TOPMED)
                          TCCA=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1491509921 has merged into rs78019673 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CC>-,C,CCC,CCCC [Show Flanks]
                            Chromosome:
                            18:25283932 (GRCh38)
                            18:22863896 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCC,NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCCC,NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCCCCCC
                            Gene:
                            ZNF521 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CCCCCCCCCCCCC=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491507146 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              18:25351457 (GRCh38)
                              18:22931422 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:25351457::A
                              Gene:
                              ZNF521 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1491503650 has merged into rs36175281 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                18:25139383 (GRCh38)
                                18:22719347 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                ZNF521 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAA=0./0 (ALFA)
                                HGVS:
                                NC_000018.10:g.25139383_25139402del, NC_000018.10:g.25139384_25139402del, NC_000018.10:g.25139386_25139402del, NC_000018.10:g.25139387_25139402del, NC_000018.10:g.25139388_25139402del, NC_000018.10:g.25139389_25139402del, NC_000018.10:g.25139390_25139402del, NC_000018.10:g.25139391_25139402del, NC_000018.10:g.25139392_25139402del, NC_000018.10:g.25139393_25139402del, NC_000018.10:g.25139394_25139402del, NC_000018.10:g.25139395_25139402del, NC_000018.10:g.25139396_25139402del, NC_000018.10:g.25139397_25139402del, NC_000018.10:g.25139398_25139402del, NC_000018.10:g.25139399_25139402del, NC_000018.10:g.25139400_25139402del, NC_000018.10:g.25139401_25139402del, NC_000018.10:g.25139402del, NC_000018.10:g.25139402dup, NC_000018.10:g.25139401_25139402dup, NC_000018.10:g.25139400_25139402dup, NC_000018.10:g.25139399_25139402dup, NC_000018.10:g.25139398_25139402dup, NC_000018.10:g.25139397_25139402dup, NC_000018.10:g.25139396_25139402dup, NC_000018.10:g.25139394_25139402dup, NC_000018.10:g.25139393_25139402dup, NC_000018.10:g.25139392_25139402dup, NC_000018.10:g.25139391_25139402dup, NC_000018.10:g.25139390_25139402dup, NC_000018.10:g.25139389_25139402dup, NC_000018.10:g.25139387_25139402dup, NC_000018.10:g.25139386_25139402dup, NC_000018.10:g.25139385_25139402dup, NC_000018.10:g.25139384_25139402dup, NC_000018.10:g.25139383_25139402dup, NC_000018.10:g.25139382_25139402dup, NC_000018.10:g.25139381_25139402dup, NC_000018.10:g.25139380_25139402dup, NC_000018.10:g.25139379_25139402dup, NC_000018.10:g.25139378_25139402dup, NC_000018.10:g.25139377_25139402dup, NC_000018.10:g.25139376_25139402dup, NC_000018.10:g.25139375_25139402dup, NC_000018.10:g.25139374_25139402dup, NC_000018.10:g.25139373_25139402dup, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719347_22719366del, NC_000018.9:g.22719348_22719366del, NC_000018.9:g.22719350_22719366del, NC_000018.9:g.22719351_22719366del, NC_000018.9:g.22719352_22719366del, NC_000018.9:g.22719353_22719366del, NC_000018.9:g.22719354_22719366del, NC_000018.9:g.22719355_22719366del, NC_000018.9:g.22719356_22719366del, NC_000018.9:g.22719357_22719366del, NC_000018.9:g.22719358_22719366del, NC_000018.9:g.22719359_22719366del, NC_000018.9:g.22719360_22719366del, NC_000018.9:g.22719361_22719366del, NC_000018.9:g.22719362_22719366del, NC_000018.9:g.22719363_22719366del, NC_000018.9:g.22719364_22719366del, NC_000018.9:g.22719365_22719366del, NC_000018.9:g.22719366del, NC_000018.9:g.22719366dup, NC_000018.9:g.22719365_22719366dup, NC_000018.9:g.22719364_22719366dup, NC_000018.9:g.22719363_22719366dup, NC_000018.9:g.22719362_22719366dup, NC_000018.9:g.22719361_22719366dup, NC_000018.9:g.22719360_22719366dup, NC_000018.9:g.22719358_22719366dup, NC_000018.9:g.22719357_22719366dup, NC_000018.9:g.22719356_22719366dup, NC_000018.9:g.22719355_22719366dup, NC_000018.9:g.22719354_22719366dup, NC_000018.9:g.22719353_22719366dup, NC_000018.9:g.22719351_22719366dup, NC_000018.9:g.22719350_22719366dup, NC_000018.9:g.22719349_22719366dup, NC_000018.9:g.22719348_22719366dup, NC_000018.9:g.22719347_22719366dup, NC_000018.9:g.22719346_22719366dup, NC_000018.9:g.22719345_22719366dup, NC_000018.9:g.22719344_22719366dup, NC_000018.9:g.22719343_22719366dup, NC_000018.9:g.22719342_22719366dup, NC_000018.9:g.22719341_22719366dup, NC_000018.9:g.22719340_22719366dup, NC_000018.9:g.22719339_22719366dup, NC_000018.9:g.22719338_22719366dup, NC_000018.9:g.22719337_22719366dup, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                16.

                                rs1491490414 has merged into rs796580178 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GTATATATATGGTATATATATG>-,GTATATATATG,GTATATATATGGTATATATATGGTATATATATG [Show Flanks]
                                  Chromosome:
                                  18:25256021 (GRCh38)
                                  18:22835985 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:25256010:TATATATATGGTATATATATGGTATATATATG:TATATATATG,NC_000018.10:25256010:TATATATATGGTATATATATGGTATATATATG:TATATATATGGTATATATATG,NC_000018.10:25256010:TATATATATGGTATATATATGGTATATATATG:TATATATATGGTATATATATGGTATATATATGGTATATATATG
                                  Gene:
                                  ZNF521 (Varview), LOC105372031 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TATATATATGGTATATATATGGTATATATATGGTATATATATG=0./0 (ALFA)
                                  TATATATATGG=0.00004/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491489026 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CA,CACA,CACACA,CACACACA [Show Flanks]
                                    Chromosome:
                                    18:25293345 (GRCh38)
                                    18:22873310 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:25293345:ACACA:ACACACA,NC_000018.10:25293345:ACACA:ACACACACA,NC_000018.10:25293345:ACACA:ACACACACACA,NC_000018.10:25293345:ACACA:ACACACACACACA
                                    Gene:
                                    ZNF521 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACACACACA=0./0 (ALFA)
                                    AC=0.00014/2 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491487557 has merged into rs55759335 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TATATATATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA [Show Flanks]
                                      Chromosome:
                                      18:25116876 (GRCh38)
                                      18:22696840 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:25116871:TATATATATATATATA:TATA,NC_000018.10:25116871:TATATATATATATATA:TATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATATATATATA
                                      Gene:
                                      ZNF521 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TATATATATATATATATATA=0./0 (ALFA)
                                      -=0.0073/28 (ALSPAC)
                                      HGVS:
                                      19.

                                      rs1491485946 has merged into rs59178760 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        18:25212522 (GRCh38)
                                        18:22792486 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        ZNF521 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAAAAAA=0./0 (ALFA)
                                        HGVS:
                                        NC_000018.10:g.25212522_25212539del, NC_000018.10:g.25212524_25212539del, NC_000018.10:g.25212526_25212539del, NC_000018.10:g.25212527_25212539del, NC_000018.10:g.25212528_25212539del, NC_000018.10:g.25212529_25212539del, NC_000018.10:g.25212530_25212539del, NC_000018.10:g.25212531_25212539del, NC_000018.10:g.25212532_25212539del, NC_000018.10:g.25212533_25212539del, NC_000018.10:g.25212534_25212539del, NC_000018.10:g.25212535_25212539del, NC_000018.10:g.25212536_25212539del, NC_000018.10:g.25212537_25212539del, NC_000018.10:g.25212538_25212539del, NC_000018.10:g.25212539del, NC_000018.10:g.25212539dup, NC_000018.10:g.25212538_25212539dup, NC_000018.10:g.25212537_25212539dup, NC_000018.10:g.25212536_25212539dup, NC_000018.10:g.25212535_25212539dup, NC_000018.10:g.25212534_25212539dup, NC_000018.10:g.25212533_25212539dup, NC_000018.10:g.25212531_25212539dup, NC_000018.10:g.25212530_25212539dup, NC_000018.10:g.25212529_25212539dup, NC_000018.10:g.25212526_25212539dup, NC_000018.10:g.25212525_25212539dup, NC_000018.10:g.25212524_25212539dup, NC_000018.9:g.22792486_22792503del, NC_000018.9:g.22792488_22792503del, NC_000018.9:g.22792490_22792503del, NC_000018.9:g.22792491_22792503del, NC_000018.9:g.22792492_22792503del, NC_000018.9:g.22792493_22792503del, NC_000018.9:g.22792494_22792503del, NC_000018.9:g.22792495_22792503del, NC_000018.9:g.22792496_22792503del, NC_000018.9:g.22792497_22792503del, NC_000018.9:g.22792498_22792503del, NC_000018.9:g.22792499_22792503del, NC_000018.9:g.22792500_22792503del, NC_000018.9:g.22792501_22792503del, NC_000018.9:g.22792502_22792503del, NC_000018.9:g.22792503del, NC_000018.9:g.22792503dup, NC_000018.9:g.22792502_22792503dup, NC_000018.9:g.22792501_22792503dup, NC_000018.9:g.22792500_22792503dup, NC_000018.9:g.22792499_22792503dup, NC_000018.9:g.22792498_22792503dup, NC_000018.9:g.22792497_22792503dup, NC_000018.9:g.22792495_22792503dup, NC_000018.9:g.22792494_22792503dup, NC_000018.9:g.22792493_22792503dup, NC_000018.9:g.22792490_22792503dup, NC_000018.9:g.22792489_22792503dup, NC_000018.9:g.22792488_22792503dup
                                        20.

                                        rs1491485727 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AC>- [Show Flanks]
                                          Chromosome:
                                          18:25322553 (GRCh38)
                                          18:22902517 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:25322552:AC:
                                          Gene:
                                          ZNF521 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.000337/4 (ALFA)
                                          -=0.000425/7 (TOMMO)
                                          -=0.000687/92 (GnomAD)
                                          HGVS:

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