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Items: 1 to 20 of 1000

1.

rs1491530801 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->CTACATCCAAA
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491525336 has merged into rs1179218651 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
      Chromosome:
      5:74661539 (GRCh38)
      5:73957364 (GRCh37)
      Canonical SPDI:
      NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:74661513:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
      Gene:
      HEXB (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
      HGVS:
      NC_000005.10:g.74661515GT[12], NC_000005.10:g.74661515GT[13], NC_000005.10:g.74661515GT[14], NC_000005.10:g.74661515GT[15], NC_000005.10:g.74661515GT[16], NC_000005.10:g.74661515GT[17], NC_000005.10:g.74661515GT[18], NC_000005.10:g.74661515GT[19], NC_000005.10:g.74661515GT[20], NC_000005.10:g.74661515GT[21], NC_000005.10:g.74661515GT[22], NC_000005.10:g.74661515GT[23], NC_000005.10:g.74661515GT[24], NC_000005.10:g.74661515GT[26], NC_000005.10:g.74661515GT[27], NC_000005.10:g.74661515GT[28], NC_000005.10:g.74661515GT[29], NC_000005.10:g.74661515GT[30], NC_000005.10:g.74661515GT[31], NC_000005.9:g.73957340GT[12], NC_000005.9:g.73957340GT[13], NC_000005.9:g.73957340GT[14], NC_000005.9:g.73957340GT[15], NC_000005.9:g.73957340GT[16], NC_000005.9:g.73957340GT[17], NC_000005.9:g.73957340GT[18], NC_000005.9:g.73957340GT[19], NC_000005.9:g.73957340GT[20], NC_000005.9:g.73957340GT[21], NC_000005.9:g.73957340GT[22], NC_000005.9:g.73957340GT[23], NC_000005.9:g.73957340GT[24], NC_000005.9:g.73957340GT[26], NC_000005.9:g.73957340GT[27], NC_000005.9:g.73957340GT[28], NC_000005.9:g.73957340GT[29], NC_000005.9:g.73957340GT[30], NC_000005.9:g.73957340GT[31], NG_009770.2:g.26493GT[12], NG_009770.2:g.26493GT[13], NG_009770.2:g.26493GT[14], NG_009770.2:g.26493GT[15], NG_009770.2:g.26493GT[16], NG_009770.2:g.26493GT[17], NG_009770.2:g.26493GT[18], NG_009770.2:g.26493GT[19], NG_009770.2:g.26493GT[20], NG_009770.2:g.26493GT[21], NG_009770.2:g.26493GT[22], NG_009770.2:g.26493GT[23], NG_009770.2:g.26493GT[24], NG_009770.2:g.26493GT[26], NG_009770.2:g.26493GT[27], NG_009770.2:g.26493GT[28], NG_009770.2:g.26493GT[29], NG_009770.2:g.26493GT[30], NG_009770.2:g.26493GT[31]

      3.

      rs1491503558 has merged into rs70976121 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        5:74679809 (GRCh38)
        5:73975634 (GRCh37)
        Canonical SPDI:
        NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74679798:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        HEXB (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000005.10:g.74679809_74679825del, NC_000005.10:g.74679810_74679825del, NC_000005.10:g.74679811_74679825del, NC_000005.10:g.74679812_74679825del, NC_000005.10:g.74679813_74679825del, NC_000005.10:g.74679814_74679825del, NC_000005.10:g.74679815_74679825del, NC_000005.10:g.74679816_74679825del, NC_000005.10:g.74679817_74679825del, NC_000005.10:g.74679818_74679825del, NC_000005.10:g.74679819_74679825del, NC_000005.10:g.74679820_74679825del, NC_000005.10:g.74679821_74679825del, NC_000005.10:g.74679822_74679825del, NC_000005.10:g.74679823_74679825del, NC_000005.10:g.74679824_74679825del, NC_000005.10:g.74679825del, NC_000005.10:g.74679825dup, NC_000005.10:g.74679824_74679825dup, NC_000005.10:g.74679823_74679825dup, NC_000005.10:g.74679822_74679825dup, NC_000005.10:g.74679821_74679825dup, NC_000005.10:g.74679820_74679825dup, NC_000005.10:g.74679819_74679825dup, NC_000005.10:g.74679818_74679825dup, NC_000005.10:g.74679817_74679825dup, NC_000005.10:g.74679816_74679825dup, NC_000005.10:g.74679815_74679825dup, NC_000005.10:g.74679814_74679825dup, NC_000005.10:g.74679813_74679825dup, NC_000005.10:g.74679812_74679825dup, NC_000005.10:g.74679808_74679825dup, NC_000005.10:g.74679825_74679826insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.73975634_73975650del, NC_000005.9:g.73975635_73975650del, NC_000005.9:g.73975636_73975650del, NC_000005.9:g.73975637_73975650del, NC_000005.9:g.73975638_73975650del, NC_000005.9:g.73975639_73975650del, NC_000005.9:g.73975640_73975650del, NC_000005.9:g.73975641_73975650del, NC_000005.9:g.73975642_73975650del, NC_000005.9:g.73975643_73975650del, NC_000005.9:g.73975644_73975650del, NC_000005.9:g.73975645_73975650del, NC_000005.9:g.73975646_73975650del, NC_000005.9:g.73975647_73975650del, NC_000005.9:g.73975648_73975650del, NC_000005.9:g.73975649_73975650del, NC_000005.9:g.73975650del, NC_000005.9:g.73975650dup, NC_000005.9:g.73975649_73975650dup, NC_000005.9:g.73975648_73975650dup, NC_000005.9:g.73975647_73975650dup, NC_000005.9:g.73975646_73975650dup, NC_000005.9:g.73975645_73975650dup, NC_000005.9:g.73975644_73975650dup, NC_000005.9:g.73975643_73975650dup, NC_000005.9:g.73975642_73975650dup, NC_000005.9:g.73975641_73975650dup, NC_000005.9:g.73975640_73975650dup, NC_000005.9:g.73975639_73975650dup, NC_000005.9:g.73975638_73975650dup, NC_000005.9:g.73975637_73975650dup, NC_000005.9:g.73975633_73975650dup, NC_000005.9:g.73975650_73975651insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009770.2:g.44787_44803del, NG_009770.2:g.44788_44803del, NG_009770.2:g.44789_44803del, NG_009770.2:g.44790_44803del, NG_009770.2:g.44791_44803del, NG_009770.2:g.44792_44803del, NG_009770.2:g.44793_44803del, NG_009770.2:g.44794_44803del, NG_009770.2:g.44795_44803del, NG_009770.2:g.44796_44803del, NG_009770.2:g.44797_44803del, NG_009770.2:g.44798_44803del, NG_009770.2:g.44799_44803del, NG_009770.2:g.44800_44803del, NG_009770.2:g.44801_44803del, NG_009770.2:g.44802_44803del, NG_009770.2:g.44803del, NG_009770.2:g.44803dup, NG_009770.2:g.44802_44803dup, NG_009770.2:g.44801_44803dup, NG_009770.2:g.44800_44803dup, NG_009770.2:g.44799_44803dup, NG_009770.2:g.44798_44803dup, NG_009770.2:g.44797_44803dup, NG_009770.2:g.44796_44803dup, NG_009770.2:g.44795_44803dup, NG_009770.2:g.44794_44803dup, NG_009770.2:g.44793_44803dup, NG_009770.2:g.44792_44803dup, NG_009770.2:g.44791_44803dup, NG_009770.2:g.44790_44803dup, NG_009770.2:g.44786_44803dup, NG_009770.2:g.44803_44804insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

        4.

        rs1491499356 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          5:74679798 (GRCh38)
          5:73975623 (GRCh37)
          Canonical SPDI:
          NC_000005.10:74679797:CA:
          Gene:
          HEXB (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00017/2 (ALFA)
          -=0.00166/41 (TOMMO)
          HGVS:

          5.

          rs1491461402 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            5:74716016 (GRCh38)
            5:74011841 (GRCh37)
            Canonical SPDI:
            NC_000005.10:74716015:CA:
            Gene:
            HEXB (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00008/1 (ALFA)
            HGVS:

            6.

            rs1491257284 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              5:74650925 (GRCh38)
              5:73946750 (GRCh37)
              Canonical SPDI:
              NC_000005.10:74650924:CA:
              Gene:
              HEXB (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.08236/977 (ALFA)
              -=0.00227/4 (Korea1K)
              -=0.0074/209 (TOMMO)
              HGVS:

              7.

              rs1491229102 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                5:74715716 (GRCh38)
                5:74011541 (GRCh37)
                Canonical SPDI:
                NC_000005.10:74715715:TA:
                Gene:
                HEXB (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1491221240 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->AGATAGAGAGAGAGAGAGAG [Show Flanks]
                  Chromosome:
                  5:74661012 (GRCh38)
                  5:73956838 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:74661012:AGAGAGAGAGAGAGAGAGATAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGATAGAGAGAGAGAGAGAGAGATAGAGAGAGAGAGAGAG
                  Gene:
                  HEXB (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AGAGAGAGAGAGAGAGAGATAGAGAGAGAGAGAGAGAGATAGAGAGAGAGAGAGAG=0./0 (ALFA)
                  AGAGAGAGAGAGAGAGAGAT=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1491219324 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    5:74705091 (GRCh38)
                    5:74000916 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:74705090:CA:
                    Gene:
                    HEXB (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00008/1 (ALFA)
                    HGVS:

                    10.

                    rs1491185864 has merged into rs35751282 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      5:74683831 (GRCh38)
                      5:73979656 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:74683821:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                      Gene:
                      HEXB (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTT=0./0 (ALFA)
                      T=0.45/18 (GENOME_DK)
                      HGVS:
                      NC_000005.10:g.74683831_74683837del, NC_000005.10:g.74683833_74683837del, NC_000005.10:g.74683834_74683837del, NC_000005.10:g.74683835_74683837del, NC_000005.10:g.74683836_74683837del, NC_000005.10:g.74683837del, NC_000005.10:g.74683837dup, NC_000005.10:g.74683836_74683837dup, NC_000005.10:g.74683835_74683837dup, NC_000005.10:g.74683834_74683837dup, NC_000005.9:g.73979656_73979662del, NC_000005.9:g.73979658_73979662del, NC_000005.9:g.73979659_73979662del, NC_000005.9:g.73979660_73979662del, NC_000005.9:g.73979661_73979662del, NC_000005.9:g.73979662del, NC_000005.9:g.73979662dup, NC_000005.9:g.73979661_73979662dup, NC_000005.9:g.73979660_73979662dup, NC_000005.9:g.73979659_73979662dup, NG_009770.2:g.48809_48815del, NG_009770.2:g.48811_48815del, NG_009770.2:g.48812_48815del, NG_009770.2:g.48813_48815del, NG_009770.2:g.48814_48815del, NG_009770.2:g.48815del, NG_009770.2:g.48815dup, NG_009770.2:g.48814_48815dup, NG_009770.2:g.48813_48815dup, NG_009770.2:g.48812_48815dup

                      11.

                      rs1491180939 has merged into rs58177670 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTAACTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        5:74700010 (GRCh38)
                        5:73995835 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAACTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74700001:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        HEXB (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTT=0./0 (ALFA)
                        HGVS:
                        NC_000005.10:g.74700010_74700026del, NC_000005.10:g.74700012_74700026del, NC_000005.10:g.74700013_74700026del, NC_000005.10:g.74700014_74700026del, NC_000005.10:g.74700015_74700026del, NC_000005.10:g.74700016_74700026del, NC_000005.10:g.74700017_74700026del, NC_000005.10:g.74700018_74700026del, NC_000005.10:g.74700019_74700026del, NC_000005.10:g.74700020_74700026del, NC_000005.10:g.74700021_74700026del, NC_000005.10:g.74700022_74700026del, NC_000005.10:g.74700023_74700026del, NC_000005.10:g.74700024_74700026del, NC_000005.10:g.74700025_74700026del, NC_000005.10:g.74700026del, NC_000005.10:g.74700026dup, NC_000005.10:g.74700002_74700026T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.74700002_74700026T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.74700025_74700026dup, NC_000005.10:g.74700024_74700026dup, NC_000005.10:g.74700002_74700026T[28]AT[2]T[38], NC_000005.10:g.74700023_74700026dup, NC_000005.10:g.74700002_74700026T[29]AACTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.74700022_74700026dup, NC_000005.10:g.74700021_74700026dup, NC_000005.10:g.74700020_74700026dup, NC_000005.10:g.74700019_74700026dup, NC_000005.10:g.74700016_74700026dup, NC_000005.10:g.74700013_74700026dup, NC_000005.10:g.74700011_74700026dup, NC_000005.10:g.74700010_74700026dup, NC_000005.10:g.74700009_74700026dup, NC_000005.10:g.74700008_74700026dup, NC_000005.10:g.74700006_74700026dup, NC_000005.10:g.74700005_74700026dup, NC_000005.10:g.74700026_74700027insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.74700026_74700027insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.74700026_74700027insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.73995835_73995851del, NC_000005.9:g.73995837_73995851del, NC_000005.9:g.73995838_73995851del, NC_000005.9:g.73995839_73995851del, NC_000005.9:g.73995840_73995851del, NC_000005.9:g.73995841_73995851del, NC_000005.9:g.73995842_73995851del, NC_000005.9:g.73995843_73995851del, NC_000005.9:g.73995844_73995851del, NC_000005.9:g.73995845_73995851del, NC_000005.9:g.73995846_73995851del, NC_000005.9:g.73995847_73995851del, NC_000005.9:g.73995848_73995851del, NC_000005.9:g.73995849_73995851del, NC_000005.9:g.73995850_73995851del, NC_000005.9:g.73995851del, NC_000005.9:g.73995851dup, NC_000005.9:g.73995827_73995851T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.73995827_73995851T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.73995850_73995851dup, NC_000005.9:g.73995849_73995851dup, NC_000005.9:g.73995827_73995851T[28]AT[2]T[38], NC_000005.9:g.73995848_73995851dup, NC_000005.9:g.73995827_73995851T[29]AACTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.73995847_73995851dup, NC_000005.9:g.73995846_73995851dup, NC_000005.9:g.73995845_73995851dup, NC_000005.9:g.73995844_73995851dup, NC_000005.9:g.73995841_73995851dup, NC_000005.9:g.73995838_73995851dup, NC_000005.9:g.73995836_73995851dup, NC_000005.9:g.73995835_73995851dup, NC_000005.9:g.73995834_73995851dup, NC_000005.9:g.73995833_73995851dup, NC_000005.9:g.73995831_73995851dup, NC_000005.9:g.73995830_73995851dup, NC_000005.9:g.73995851_73995852insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.73995851_73995852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.73995851_73995852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009770.2:g.64988_65004del, NG_009770.2:g.64990_65004del, NG_009770.2:g.64991_65004del, NG_009770.2:g.64992_65004del, NG_009770.2:g.64993_65004del, NG_009770.2:g.64994_65004del, NG_009770.2:g.64995_65004del, NG_009770.2:g.64996_65004del, NG_009770.2:g.64997_65004del, NG_009770.2:g.64998_65004del, NG_009770.2:g.64999_65004del, NG_009770.2:g.65000_65004del, NG_009770.2:g.65001_65004del, NG_009770.2:g.65002_65004del, NG_009770.2:g.65003_65004del, NG_009770.2:g.65004del, NG_009770.2:g.65004dup, NG_009770.2:g.64980_65004T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009770.2:g.64980_65004T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009770.2:g.65003_65004dup, NG_009770.2:g.65002_65004dup, NG_009770.2:g.64980_65004T[28]AT[2]T[38], NG_009770.2:g.65001_65004dup, NG_009770.2:g.64980_65004T[29]AACTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009770.2:g.65000_65004dup, NG_009770.2:g.64999_65004dup, NG_009770.2:g.64998_65004dup, NG_009770.2:g.64997_65004dup, NG_009770.2:g.64994_65004dup, NG_009770.2:g.64991_65004dup, NG_009770.2:g.64989_65004dup, NG_009770.2:g.64988_65004dup, NG_009770.2:g.64987_65004dup, NG_009770.2:g.64986_65004dup, NG_009770.2:g.64984_65004dup, NG_009770.2:g.64983_65004dup, NG_009770.2:g.65004_65005insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009770.2:g.65004_65005insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009770.2:g.65004_65005insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                        12.

                        rs1491171833 has merged into rs57555383 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA [Show Flanks]
                          Chromosome:
                          5:74717491 (GRCh38)
                          5:74013316 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000005.10:74717477:ATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA
                          Gene:
                          HEXB (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ATATATATATATATA=0./0 (ALFA)
                          HGVS:
                          NC_000005.10:g.74717479TA[6], NC_000005.10:g.74717479TA[7], NC_000005.10:g.74717479TA[8], NC_000005.10:g.74717479TA[10], NC_000005.10:g.74717479TA[11], NC_000005.10:g.74717479TA[12], NC_000005.10:g.74717479TA[13], NC_000005.10:g.74717479TA[14], NC_000005.10:g.74717479TA[15], NC_000005.10:g.74717479TA[16], NC_000005.10:g.74717479TA[17], NC_000005.10:g.74717479TA[18], NC_000005.10:g.74717479TA[19], NC_000005.10:g.74717479TA[20], NC_000005.10:g.74717479TA[22], NC_000005.9:g.74013304TA[6], NC_000005.9:g.74013304TA[7], NC_000005.9:g.74013304TA[8], NC_000005.9:g.74013304TA[10], NC_000005.9:g.74013304TA[11], NC_000005.9:g.74013304TA[12], NC_000005.9:g.74013304TA[13], NC_000005.9:g.74013304TA[14], NC_000005.9:g.74013304TA[15], NC_000005.9:g.74013304TA[16], NC_000005.9:g.74013304TA[17], NC_000005.9:g.74013304TA[18], NC_000005.9:g.74013304TA[19], NC_000005.9:g.74013304TA[20], NC_000005.9:g.74013304TA[22], NG_009770.2:g.82457TA[6], NG_009770.2:g.82457TA[7], NG_009770.2:g.82457TA[8], NG_009770.2:g.82457TA[10], NG_009770.2:g.82457TA[11], NG_009770.2:g.82457TA[12], NG_009770.2:g.82457TA[13], NG_009770.2:g.82457TA[14], NG_009770.2:g.82457TA[15], NG_009770.2:g.82457TA[16], NG_009770.2:g.82457TA[17], NG_009770.2:g.82457TA[18], NG_009770.2:g.82457TA[19], NG_009770.2:g.82457TA[20], NG_009770.2:g.82457TA[22]

                          13.

                          rs1491153484 has merged into rs60295789 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            5:74702079 (GRCh38)
                            5:73997904 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:74702067:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            HEXB (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTT=0./0 (ALFA)
                            HGVS:
                            NC_000005.10:g.74702079_74702096del, NC_000005.10:g.74702080_74702096del, NC_000005.10:g.74702081_74702096del, NC_000005.10:g.74702082_74702096del, NC_000005.10:g.74702084_74702096del, NC_000005.10:g.74702085_74702096del, NC_000005.10:g.74702086_74702096del, NC_000005.10:g.74702087_74702096del, NC_000005.10:g.74702088_74702096del, NC_000005.10:g.74702089_74702096del, NC_000005.10:g.74702090_74702096del, NC_000005.10:g.74702091_74702096del, NC_000005.10:g.74702092_74702096del, NC_000005.10:g.74702093_74702096del, NC_000005.10:g.74702094_74702096del, NC_000005.10:g.74702095_74702096del, NC_000005.10:g.74702096del, NC_000005.10:g.74702096dup, NC_000005.10:g.74702095_74702096dup, NC_000005.10:g.74702094_74702096dup, NC_000005.10:g.74702093_74702096dup, NC_000005.10:g.74702092_74702096dup, NC_000005.10:g.74702091_74702096dup, NC_000005.10:g.74702090_74702096dup, NC_000005.10:g.74702089_74702096dup, NC_000005.10:g.74702088_74702096dup, NC_000005.10:g.74702085_74702096dup, NC_000005.10:g.74702081_74702096dup, NC_000005.10:g.74702071_74702096dup, NC_000005.9:g.73997904_73997921del, NC_000005.9:g.73997905_73997921del, NC_000005.9:g.73997906_73997921del, NC_000005.9:g.73997907_73997921del, NC_000005.9:g.73997909_73997921del, NC_000005.9:g.73997910_73997921del, NC_000005.9:g.73997911_73997921del, NC_000005.9:g.73997912_73997921del, NC_000005.9:g.73997913_73997921del, NC_000005.9:g.73997914_73997921del, NC_000005.9:g.73997915_73997921del, NC_000005.9:g.73997916_73997921del, NC_000005.9:g.73997917_73997921del, NC_000005.9:g.73997918_73997921del, NC_000005.9:g.73997919_73997921del, NC_000005.9:g.73997920_73997921del, NC_000005.9:g.73997921del, NC_000005.9:g.73997921dup, NC_000005.9:g.73997920_73997921dup, NC_000005.9:g.73997919_73997921dup, NC_000005.9:g.73997918_73997921dup, NC_000005.9:g.73997917_73997921dup, NC_000005.9:g.73997916_73997921dup, NC_000005.9:g.73997915_73997921dup, NC_000005.9:g.73997914_73997921dup, NC_000005.9:g.73997913_73997921dup, NC_000005.9:g.73997910_73997921dup, NC_000005.9:g.73997906_73997921dup, NC_000005.9:g.73997896_73997921dup, NG_009770.2:g.67057_67074del, NG_009770.2:g.67058_67074del, NG_009770.2:g.67059_67074del, NG_009770.2:g.67060_67074del, NG_009770.2:g.67062_67074del, NG_009770.2:g.67063_67074del, NG_009770.2:g.67064_67074del, NG_009770.2:g.67065_67074del, NG_009770.2:g.67066_67074del, NG_009770.2:g.67067_67074del, NG_009770.2:g.67068_67074del, NG_009770.2:g.67069_67074del, NG_009770.2:g.67070_67074del, NG_009770.2:g.67071_67074del, NG_009770.2:g.67072_67074del, NG_009770.2:g.67073_67074del, NG_009770.2:g.67074del, NG_009770.2:g.67074dup, NG_009770.2:g.67073_67074dup, NG_009770.2:g.67072_67074dup, NG_009770.2:g.67071_67074dup, NG_009770.2:g.67070_67074dup, NG_009770.2:g.67069_67074dup, NG_009770.2:g.67068_67074dup, NG_009770.2:g.67067_67074dup, NG_009770.2:g.67066_67074dup, NG_009770.2:g.67063_67074dup, NG_009770.2:g.67059_67074dup, NG_009770.2:g.67049_67074dup

                            14.

                            rs1491149387 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->ATTC
                              Chromosome:
                              no mapping
                              Canonical SPDI:

                              15.

                              rs1491136831 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TATACA,TATATACA,TATATATACA,TATATATATACA [Show Flanks]
                                Chromosome:
                                5:74717495 (GRCh38)
                                5:74013321 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:74717495:A:ATATACA,NC_000005.10:74717495:A:ATATATACA,NC_000005.10:74717495:A:ATATATATACA,NC_000005.10:74717495:A:ATATATATATACA
                                Gene:
                                HEXB (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATATATACA=0./0 (ALFA)
                                ATATATATATAC=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1491087035 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->TTTAAAACATGTAC [Show Flanks]
                                  Chromosome:
                                  5:74718397 (GRCh38)
                                  5:74014223 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:74718397::TTTAAAACATGTAC
                                  Gene:
                                  HEXB (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by cluster
                                  HGVS:

                                  17.

                                  rs1491081928 has merged into rs1554037039 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CA>-,CACA,CACACA [Show Flanks]
                                    Chromosome:
                                    5:74719962 (GRCh38)
                                    5:74015787 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:74719954:ACACACACA:ACACACA,NC_000005.10:74719954:ACACACACA:ACACACACACA,NC_000005.10:74719954:ACACACACA:ACACACACACACA
                                    Gene:
                                    HEXB (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACACACACACA=0./0 (ALFA)
                                    AC=0.00028/5 (TOMMO)
                                    HGVS:

                                    18.

                                    rs1491064957 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GC>- [Show Flanks]
                                      Chromosome:
                                      5:74685144 (GRCh38)
                                      5:73980969 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:74685137:GCGCGCGC:GCGCGC
                                      Gene:
                                      HEXB (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GCGCGC=0./0 (ALFA)
                                      -=0.00001/1 (GnomAD)
                                      -=0.000019/5 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1491025470 has merged into rs34363294 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        5:74697736 (GRCh38)
                                        5:73993561 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:74697727:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        HEXB (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAA=0./0 (ALFA)
                                        HGVS:
                                        NC_000005.10:g.74697736_74697746del, NC_000005.10:g.74697737_74697746del, NC_000005.10:g.74697739_74697746del, NC_000005.10:g.74697740_74697746del, NC_000005.10:g.74697741_74697746del, NC_000005.10:g.74697742_74697746del, NC_000005.10:g.74697743_74697746del, NC_000005.10:g.74697744_74697746del, NC_000005.10:g.74697745_74697746del, NC_000005.10:g.74697746del, NC_000005.10:g.74697746dup, NC_000005.10:g.74697745_74697746dup, NC_000005.10:g.74697744_74697746dup, NC_000005.10:g.74697743_74697746dup, NC_000005.10:g.74697742_74697746dup, NC_000005.9:g.73993561_73993571del, NC_000005.9:g.73993562_73993571del, NC_000005.9:g.73993564_73993571del, NC_000005.9:g.73993565_73993571del, NC_000005.9:g.73993566_73993571del, NC_000005.9:g.73993567_73993571del, NC_000005.9:g.73993568_73993571del, NC_000005.9:g.73993569_73993571del, NC_000005.9:g.73993570_73993571del, NC_000005.9:g.73993571del, NC_000005.9:g.73993571dup, NC_000005.9:g.73993570_73993571dup, NC_000005.9:g.73993569_73993571dup, NC_000005.9:g.73993568_73993571dup, NC_000005.9:g.73993567_73993571dup, NG_009770.2:g.62714_62724del, NG_009770.2:g.62715_62724del, NG_009770.2:g.62717_62724del, NG_009770.2:g.62718_62724del, NG_009770.2:g.62719_62724del, NG_009770.2:g.62720_62724del, NG_009770.2:g.62721_62724del, NG_009770.2:g.62722_62724del, NG_009770.2:g.62723_62724del, NG_009770.2:g.62724del, NG_009770.2:g.62724dup, NG_009770.2:g.62723_62724dup, NG_009770.2:g.62722_62724dup, NG_009770.2:g.62721_62724dup, NG_009770.2:g.62720_62724dup

                                        20.

                                        rs1491009976 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          5:74721257 (GRCh38)
                                          5:74017083 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:74721257:TTTTTT:TTTTTTT
                                          Gene:
                                          HEXB (Varview), GFM2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTT=0./0 (ALFA)
                                          T=0.000009/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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