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Items: 1 to 20 of 49733

1.

rs1491554193 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AT [Show Flanks]
    Chromosome:
    21:10044280 (GRCh38)
    21:10522309 (GRCh37)
    Canonical SPDI:
    NC_000021.9:10044280:T:TAT
    Gene:
    LOC105372733 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TAT=0./0 (ALFA)
    TA=0.00322/51 (TOMMO)
    TA=0.01421/22 (Korea1K)
    TA=0.02622/784 (GnomAD)
    HGVS:
    2.

    rs1491549268 has merged into rs765960235 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      21:9997473 (GRCh38)
      21:10475501 (GRCh37)
      Canonical SPDI:
      NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LOC105372733 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAA=0./0 (ALFA)
      -=0.3/12 (GENOME_DK)
      HGVS:
      NC_000021.9:g.9997473_9997486del, NC_000021.9:g.9997475_9997486del, NC_000021.9:g.9997476_9997486del, NC_000021.9:g.9997477_9997486del, NC_000021.9:g.9997478_9997486del, NC_000021.9:g.9997479_9997486del, NC_000021.9:g.9997480_9997486del, NC_000021.9:g.9997481_9997486del, NC_000021.9:g.9997482_9997486del, NC_000021.9:g.9997483_9997486del, NC_000021.9:g.9997484_9997486del, NC_000021.9:g.9997485_9997486del, NC_000021.9:g.9997486del, NC_000021.9:g.9997486dup, NC_000021.9:g.9997485_9997486dup, NC_000021.9:g.9997484_9997486dup, NC_000021.9:g.9997483_9997486dup, NC_000021.9:g.9997482_9997486dup, NC_000021.9:g.9997481_9997486dup, NC_000021.9:g.9997480_9997486dup, NC_000021.9:g.9997479_9997486dup, NC_000021.9:g.9997478_9997486dup, NC_000021.9:g.9997477_9997486dup, NC_000021.9:g.9997476_9997486dup, NC_000021.9:g.9997475_9997486dup, NC_000021.9:g.9997474_9997486dup, NC_000021.9:g.9997473_9997486dup, NC_000021.9:g.9997472_9997486dup, NC_000021.9:g.9997471_9997486dup, NC_000021.9:g.9997470_9997486dup, NC_000021.9:g.9997469_9997486dup, NC_000021.9:g.9997468_9997486dup, NC_000021.9:g.9997467_9997486dup, NC_000021.9:g.9997466_9997486dup, NC_000021.9:g.9997465_9997486dup, NC_000021.9:g.9997464_9997486dup, NC_000021.9:g.9997463_9997486dup, NC_000021.9:g.9997462_9997486dup, NC_000021.9:g.9997486_9997487insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.9997486_9997487insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.9997486_9997487insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10475501_10475514del, NC_000021.8:g.10475503_10475514del, NC_000021.8:g.10475504_10475514del, NC_000021.8:g.10475505_10475514del, NC_000021.8:g.10475506_10475514del, NC_000021.8:g.10475507_10475514del, NC_000021.8:g.10475508_10475514del, NC_000021.8:g.10475509_10475514del, NC_000021.8:g.10475510_10475514del, NC_000021.8:g.10475511_10475514del, NC_000021.8:g.10475512_10475514del, NC_000021.8:g.10475513_10475514del, NC_000021.8:g.10475514del, NC_000021.8:g.10475514dup, NC_000021.8:g.10475513_10475514dup, NC_000021.8:g.10475512_10475514dup, NC_000021.8:g.10475511_10475514dup, NC_000021.8:g.10475510_10475514dup, NC_000021.8:g.10475509_10475514dup, NC_000021.8:g.10475508_10475514dup, NC_000021.8:g.10475507_10475514dup, NC_000021.8:g.10475506_10475514dup, NC_000021.8:g.10475505_10475514dup, NC_000021.8:g.10475504_10475514dup, NC_000021.8:g.10475503_10475514dup, NC_000021.8:g.10475502_10475514dup, NC_000021.8:g.10475501_10475514dup, NC_000021.8:g.10475500_10475514dup, NC_000021.8:g.10475499_10475514dup, NC_000021.8:g.10475498_10475514dup, NC_000021.8:g.10475497_10475514dup, NC_000021.8:g.10475496_10475514dup, NC_000021.8:g.10475495_10475514dup, NC_000021.8:g.10475494_10475514dup, NC_000021.8:g.10475493_10475514dup, NC_000021.8:g.10475492_10475514dup, NC_000021.8:g.10475491_10475514dup, NC_000021.8:g.10475490_10475514dup, NC_000021.8:g.10475514_10475515insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10475514_10475515insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10475514_10475515insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491500025 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        21:10044278 (GRCh38)
        21:10522307 (GRCh37)
        Canonical SPDI:
        NC_000021.9:10044278:A:AA
        Gene:
        LOC105372733 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AA=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.00002/1 (GnomAD)
        HGVS:
        4.

        rs1491495964 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          21:10098785 (GRCh38)
          21:10576814 (GRCh37)
          Canonical SPDI:
          NC_000021.9:10098785::C
          Gene:
          LOC105372733 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.00062/22 (GnomAD)
          HGVS:
          5.

          rs1491482408 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            21:10018193 (GRCh38)
            21:10496222 (GRCh37)
            Canonical SPDI:
            NC_000021.9:10018193:G:GG
            Gene:
            LOC105372733 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            GG=0./0 (ALFA)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1491479064 has merged into rs577689844 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>-,ATAT [Show Flanks]
              Chromosome:
              21:10073026 (GRCh38)
              21:10551054 (GRCh37)
              Canonical SPDI:
              NC_000021.9:10073017:ATATATATAT:ATATATAT,NC_000021.9:10073017:ATATATATAT:ATATATATATAT
              Gene:
              LOC105372733 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATATAT=0./0 (ALFA)
              -=0./0 (GnomAD)
              -=0.000026/7 (TOPMED)
              AT=0.001597/8 (1000Genomes)
              HGVS:
              7.

              rs1491469979 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                21:10064133 (GRCh38)
                21:10542161 (GRCh37)
                Canonical SPDI:
                NC_000021.9:10064130:TTTT:TT
                Gene:
                LOC105372733 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTTT=0./0 (ALFA)
                -=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1491454374 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->AATATATAT [Show Flanks]
                  Chromosome:
                  21:10073018 (GRCh38)
                  21:10551047 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:10073018::AATATATAT
                  Gene:
                  LOC105372733 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AATATATAT=0.0002/1 (ALFA)
                  HGVS:
                  9.

                  rs1491451850 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->A,AC,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATTTG [Show Flanks]
                    Chromosome:
                    21:10009899 (GRCh38)
                    21:10487928 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:10009899::A,NC_000021.9:10009899::AC,NC_000021.9:10009899::ATA,NC_000021.9:10009899::ATATA,NC_000021.9:10009899::ATATATA,NC_000021.9:10009899::ATATATATA,NC_000021.9:10009899::ATATATATATA,NC_000021.9:10009899::ATATATATATATA,NC_000021.9:10009899::ATATATATATATATA,NC_000021.9:10009899::ATATATATATTTG
                    Gene:
                    LOC105372733 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATA=0./0 (ALFA)
                    HGVS:
                    NC_000021.9:g.10009899_10009900insA, NC_000021.9:g.10009899_10009900insAC, NC_000021.9:g.10009899_10009900insATA, NC_000021.9:g.10009899_10009900insATATA, NC_000021.9:g.10009899_10009900insATATATA, NC_000021.9:g.10009899_10009900insATATATATA, NC_000021.9:g.10009899_10009900insATATATATATA, NC_000021.9:g.10009899_10009900insATATATATATATA, NC_000021.9:g.10009899_10009900insATATATATATATATA, NC_000021.9:g.10009899_10009900insATATATATATTTG, NC_000021.8:g.10487927_10487928insA, NC_000021.8:g.10487927_10487928insAC, NC_000021.8:g.10487927_10487928insATA, NC_000021.8:g.10487927_10487928insATATA, NC_000021.8:g.10487927_10487928insATATATA, NC_000021.8:g.10487927_10487928insATATATATA, NC_000021.8:g.10487927_10487928insATATATATATA, NC_000021.8:g.10487927_10487928insATATATATATATA, NC_000021.8:g.10487927_10487928insATATATATATATATA, NC_000021.8:g.10487927_10487928insATATATATATTTG
                    10.

                    rs1491430711 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GA>- [Show Flanks]
                      Chromosome:
                      21:10018194 (GRCh38)
                      21:10496222 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:10018192:AGA:A
                      Gene:
                      LOC105372733 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      -=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1491401102 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->TTTT [Show Flanks]
                        Chromosome:
                        21:10006613 (GRCh38)
                        21:10484642 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:10006613:T:TTTTT
                        Gene:
                        LOC105372733 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTTTT=0.00037/6 (ALFA)
                        HGVS:
                        12.

                        rs1491369367 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          ->C
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1491349801 has merged into rs1159590636 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            21:10009913 (GRCh38)
                            21:10487941 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            LOC105372733 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTTT=0./0 (ALFA)
                            HGVS:
                            NC_000021.9:g.10009913_10009928del, NC_000021.9:g.10009914_10009928del, NC_000021.9:g.10009915_10009928del, NC_000021.9:g.10009916_10009928del, NC_000021.9:g.10009917_10009928del, NC_000021.9:g.10009918_10009928del, NC_000021.9:g.10009919_10009928del, NC_000021.9:g.10009920_10009928del, NC_000021.9:g.10009921_10009928del, NC_000021.9:g.10009922_10009928del, NC_000021.9:g.10009923_10009928del, NC_000021.9:g.10009924_10009928del, NC_000021.9:g.10009925_10009928del, NC_000021.9:g.10009926_10009928del, NC_000021.9:g.10009927_10009928del, NC_000021.9:g.10009928del, NC_000021.9:g.10009928dup, NC_000021.9:g.10009927_10009928dup, NC_000021.9:g.10009926_10009928dup, NC_000021.9:g.10009924_10009928dup, NC_000021.9:g.10009923_10009928dup, NC_000021.9:g.10009922_10009928dup, NC_000021.9:g.10009921_10009928dup, NC_000021.9:g.10009920_10009928dup, NC_000021.9:g.10009919_10009928dup, NC_000021.9:g.10009918_10009928dup, NC_000021.9:g.10009917_10009928dup, NC_000021.9:g.10009916_10009928dup, NC_000021.9:g.10009915_10009928dup, NC_000021.9:g.10009914_10009928dup, NC_000021.9:g.10009913_10009928dup, NC_000021.9:g.10009912_10009928dup, NC_000021.9:g.10009909_10009928dup, NC_000021.9:g.10009908_10009928dup, NC_000021.8:g.10487941_10487956del, NC_000021.8:g.10487942_10487956del, NC_000021.8:g.10487943_10487956del, NC_000021.8:g.10487944_10487956del, NC_000021.8:g.10487945_10487956del, NC_000021.8:g.10487946_10487956del, NC_000021.8:g.10487947_10487956del, NC_000021.8:g.10487948_10487956del, NC_000021.8:g.10487949_10487956del, NC_000021.8:g.10487950_10487956del, NC_000021.8:g.10487951_10487956del, NC_000021.8:g.10487952_10487956del, NC_000021.8:g.10487953_10487956del, NC_000021.8:g.10487954_10487956del, NC_000021.8:g.10487955_10487956del, NC_000021.8:g.10487956del, NC_000021.8:g.10487956dup, NC_000021.8:g.10487955_10487956dup, NC_000021.8:g.10487954_10487956dup, NC_000021.8:g.10487952_10487956dup, NC_000021.8:g.10487951_10487956dup, NC_000021.8:g.10487950_10487956dup, NC_000021.8:g.10487949_10487956dup, NC_000021.8:g.10487948_10487956dup, NC_000021.8:g.10487947_10487956dup, NC_000021.8:g.10487946_10487956dup, NC_000021.8:g.10487945_10487956dup, NC_000021.8:g.10487944_10487956dup, NC_000021.8:g.10487943_10487956dup, NC_000021.8:g.10487942_10487956dup, NC_000021.8:g.10487941_10487956dup, NC_000021.8:g.10487940_10487956dup, NC_000021.8:g.10487937_10487956dup, NC_000021.8:g.10487936_10487956dup
                            14.

                            rs1491327789 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              AA>-
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1491324585 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                21:10094383 (GRCh38)
                                21:10572411 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:10094382:CA:
                                Gene:
                                LOC105372733 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491321320 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CA>- [Show Flanks]
                                  Chromosome:
                                  21:10106362 (GRCh38)
                                  21:10584390 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:10106361:CA:
                                  Gene:
                                  LOC105372733 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.00354/42 (ALFA)
                                  -=0.0045/75 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491306310 has merged into rs71275512 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAAAAAAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    21:10106364 (GRCh38)
                                    21:10584392 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:A,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    LOC105372733 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    NC_000021.9:g.10106364_10106386del, NC_000021.9:g.10106366_10106386del, NC_000021.9:g.10106370_10106386del, NC_000021.9:g.10106372_10106386del, NC_000021.9:g.10106373_10106386del, NC_000021.9:g.10106374_10106386del, NC_000021.9:g.10106375_10106386del, NC_000021.9:g.10106376_10106386del, NC_000021.9:g.10106378_10106386del, NC_000021.9:g.10106379_10106386del, NC_000021.9:g.10106380_10106386del, NC_000021.9:g.10106381_10106386del, NC_000021.9:g.10106383_10106386del, NC_000021.9:g.10106384_10106386del, NC_000021.9:g.10106385_10106386del, NC_000021.9:g.10106386del, NC_000021.9:g.10106386dup, NC_000021.9:g.10106385_10106386dup, NC_000021.9:g.10106384_10106386dup, NC_000021.9:g.10106383_10106386dup, NC_000021.9:g.10106382_10106386dup, NC_000021.9:g.10106381_10106386dup, NC_000021.9:g.10106380_10106386dup, NC_000021.9:g.10106379_10106386dup, NC_000021.9:g.10106378_10106386dup, NC_000021.9:g.10106377_10106386dup, NC_000021.9:g.10106376_10106386dup, NC_000021.9:g.10106375_10106386dup, NC_000021.9:g.10106374_10106386dup, NC_000021.9:g.10106373_10106386dup, NC_000021.9:g.10106372_10106386dup, NC_000021.9:g.10106371_10106386dup, NC_000021.9:g.10106370_10106386dup, NC_000021.9:g.10106369_10106386dup, NC_000021.9:g.10106368_10106386dup, NC_000021.9:g.10106367_10106386dup, NC_000021.9:g.10106366_10106386dup, NC_000021.9:g.10106364_10106386dup, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584392_10584414del, NC_000021.8:g.10584394_10584414del, NC_000021.8:g.10584398_10584414del, NC_000021.8:g.10584400_10584414del, NC_000021.8:g.10584401_10584414del, NC_000021.8:g.10584402_10584414del, NC_000021.8:g.10584403_10584414del, NC_000021.8:g.10584404_10584414del, NC_000021.8:g.10584406_10584414del, NC_000021.8:g.10584407_10584414del, NC_000021.8:g.10584408_10584414del, NC_000021.8:g.10584409_10584414del, NC_000021.8:g.10584411_10584414del, NC_000021.8:g.10584412_10584414del, NC_000021.8:g.10584413_10584414del, NC_000021.8:g.10584414del, NC_000021.8:g.10584414dup, NC_000021.8:g.10584413_10584414dup, NC_000021.8:g.10584412_10584414dup, NC_000021.8:g.10584411_10584414dup, NC_000021.8:g.10584410_10584414dup, NC_000021.8:g.10584409_10584414dup, NC_000021.8:g.10584408_10584414dup, NC_000021.8:g.10584407_10584414dup, NC_000021.8:g.10584406_10584414dup, NC_000021.8:g.10584405_10584414dup, NC_000021.8:g.10584404_10584414dup, NC_000021.8:g.10584403_10584414dup, NC_000021.8:g.10584402_10584414dup, NC_000021.8:g.10584401_10584414dup, NC_000021.8:g.10584400_10584414dup, NC_000021.8:g.10584399_10584414dup, NC_000021.8:g.10584398_10584414dup, NC_000021.8:g.10584397_10584414dup, NC_000021.8:g.10584396_10584414dup, NC_000021.8:g.10584395_10584414dup, NC_000021.8:g.10584394_10584414dup, NC_000021.8:g.10584392_10584414dup, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                    18.

                                    rs1491290063 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      AT>- [Show Flanks]
                                      Chromosome:
                                      21:10006613 (GRCh38)
                                      21:10484641 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:10006612:AT:
                                      Gene:
                                      LOC105372733 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0.01189/141 (ALFA)
                                      -=0.01207/202 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1491245727 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        ->TCAC
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:
                                        20.

                                        rs1491133333 has merged into rs1163296323 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
                                          Chromosome:
                                          21:10044292 (GRCh38)
                                          21:10522320 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
                                          Gene:
                                          LOC105372733 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTTTTTTTT=0./0 (ALFA)
                                          HGVS:

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