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1.

rs1491571458 has merged into rs60589046 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
    Chromosome:
    15:90735251 (GRCh38)
    15:91278482 (GRCh37)
    Canonical SPDI:
    NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:90735236:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
    Gene:
    BLM (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATATAT=0./0 (ALFA)
    ATATATATAT=0.025/1 (GENOME_DK)
    HGVS:
    NC_000015.10:g.90735237AT[7], NC_000015.10:g.90735237AT[8], NC_000015.10:g.90735237AT[9], NC_000015.10:g.90735237AT[10], NC_000015.10:g.90735237AT[11], NC_000015.10:g.90735237AT[12], NC_000015.10:g.90735237AT[13], NC_000015.10:g.90735237AT[14], NC_000015.10:g.90735237AT[15], NC_000015.10:g.90735237AT[16], NC_000015.10:g.90735237AT[17], NC_000015.10:g.90735237AT[19], NC_000015.10:g.90735237AT[20], NC_000015.10:g.90735237AT[21], NC_000015.10:g.90735237AT[22], NC_000015.10:g.90735237AT[23], NC_000015.10:g.90735237AT[24], NC_000015.10:g.90735237AT[25], NC_000015.10:g.90735237AT[26], NC_000015.10:g.90735237AT[27], NC_000015.10:g.90735237AT[28], NC_000015.10:g.90735237AT[29], NC_000015.10:g.90735237AT[30], NC_000015.10:g.90735237AT[31], NC_000015.10:g.90735237AT[32], NC_000015.9:g.91278468AT[7], NC_000015.9:g.91278468AT[8], NC_000015.9:g.91278468AT[9], NC_000015.9:g.91278468AT[10], NC_000015.9:g.91278468AT[11], NC_000015.9:g.91278468AT[12], NC_000015.9:g.91278468AT[13], NC_000015.9:g.91278468AT[14], NC_000015.9:g.91278468AT[15], NC_000015.9:g.91278468AT[16], NC_000015.9:g.91278468AT[17], NC_000015.9:g.91278468AT[19], NC_000015.9:g.91278468AT[20], NC_000015.9:g.91278468AT[21], NC_000015.9:g.91278468AT[22], NC_000015.9:g.91278468AT[23], NC_000015.9:g.91278468AT[24], NC_000015.9:g.91278468AT[25], NC_000015.9:g.91278468AT[26], NC_000015.9:g.91278468AT[27], NC_000015.9:g.91278468AT[28], NC_000015.9:g.91278468AT[29], NC_000015.9:g.91278468AT[30], NC_000015.9:g.91278468AT[31], NC_000015.9:g.91278468AT[32], NG_007272.1:g.22867AT[7], NG_007272.1:g.22867AT[8], NG_007272.1:g.22867AT[9], NG_007272.1:g.22867AT[10], NG_007272.1:g.22867AT[11], NG_007272.1:g.22867AT[12], NG_007272.1:g.22867AT[13], NG_007272.1:g.22867AT[14], NG_007272.1:g.22867AT[15], NG_007272.1:g.22867AT[16], NG_007272.1:g.22867AT[17], NG_007272.1:g.22867AT[19], NG_007272.1:g.22867AT[20], NG_007272.1:g.22867AT[21], NG_007272.1:g.22867AT[22], NG_007272.1:g.22867AT[23], NG_007272.1:g.22867AT[24], NG_007272.1:g.22867AT[25], NG_007272.1:g.22867AT[26], NG_007272.1:g.22867AT[27], NG_007272.1:g.22867AT[28], NG_007272.1:g.22867AT[29], NG_007272.1:g.22867AT[30], NG_007272.1:g.22867AT[31], NG_007272.1:g.22867AT[32]

    2.

    rs1491553921 has merged into rs869185558 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      15:90786007 (GRCh38)
      15:91329237 (GRCh37)
      Canonical SPDI:
      NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90785998:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      BLM (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000015.10:g.90786007_90786021del, NC_000015.10:g.90786010_90786021del, NC_000015.10:g.90786011_90786021del, NC_000015.10:g.90786012_90786021del, NC_000015.10:g.90786013_90786021del, NC_000015.10:g.90786014_90786021del, NC_000015.10:g.90786015_90786021del, NC_000015.10:g.90786016_90786021del, NC_000015.10:g.90786017_90786021del, NC_000015.10:g.90786018_90786021del, NC_000015.10:g.90786019_90786021del, NC_000015.10:g.90786020_90786021del, NC_000015.10:g.90786021del, NC_000015.10:g.90786021dup, NC_000015.10:g.90786020_90786021dup, NC_000015.10:g.90786019_90786021dup, NC_000015.10:g.90786018_90786021dup, NC_000015.10:g.90786017_90786021dup, NC_000015.10:g.90786016_90786021dup, NC_000015.10:g.90786015_90786021dup, NC_000015.10:g.90786014_90786021dup, NC_000015.10:g.90786013_90786021dup, NC_000015.10:g.90786012_90786021dup, NC_000015.10:g.90786011_90786021dup, NC_000015.10:g.90786010_90786021dup, NC_000015.10:g.90786006_90786021dup, NC_000015.10:g.90786005_90786021dup, NC_000015.9:g.91329237_91329251del, NC_000015.9:g.91329240_91329251del, NC_000015.9:g.91329241_91329251del, NC_000015.9:g.91329242_91329251del, NC_000015.9:g.91329243_91329251del, NC_000015.9:g.91329244_91329251del, NC_000015.9:g.91329245_91329251del, NC_000015.9:g.91329246_91329251del, NC_000015.9:g.91329247_91329251del, NC_000015.9:g.91329248_91329251del, NC_000015.9:g.91329249_91329251del, NC_000015.9:g.91329250_91329251del, NC_000015.9:g.91329251del, NC_000015.9:g.91329251dup, NC_000015.9:g.91329250_91329251dup, NC_000015.9:g.91329249_91329251dup, NC_000015.9:g.91329248_91329251dup, NC_000015.9:g.91329247_91329251dup, NC_000015.9:g.91329246_91329251dup, NC_000015.9:g.91329245_91329251dup, NC_000015.9:g.91329244_91329251dup, NC_000015.9:g.91329243_91329251dup, NC_000015.9:g.91329242_91329251dup, NC_000015.9:g.91329241_91329251dup, NC_000015.9:g.91329240_91329251dup, NC_000015.9:g.91329236_91329251dup, NC_000015.9:g.91329235_91329251dup, NG_007272.1:g.73636_73650del, NG_007272.1:g.73639_73650del, NG_007272.1:g.73640_73650del, NG_007272.1:g.73641_73650del, NG_007272.1:g.73642_73650del, NG_007272.1:g.73643_73650del, NG_007272.1:g.73644_73650del, NG_007272.1:g.73645_73650del, NG_007272.1:g.73646_73650del, NG_007272.1:g.73647_73650del, NG_007272.1:g.73648_73650del, NG_007272.1:g.73649_73650del, NG_007272.1:g.73650del, NG_007272.1:g.73650dup, NG_007272.1:g.73649_73650dup, NG_007272.1:g.73648_73650dup, NG_007272.1:g.73647_73650dup, NG_007272.1:g.73646_73650dup, NG_007272.1:g.73645_73650dup, NG_007272.1:g.73644_73650dup, NG_007272.1:g.73643_73650dup, NG_007272.1:g.73642_73650dup, NG_007272.1:g.73641_73650dup, NG_007272.1:g.73640_73650dup, NG_007272.1:g.73639_73650dup, NG_007272.1:g.73635_73650dup, NG_007272.1:g.73634_73650dup

      3.

      rs1491548961 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        15:90742998 (GRCh38)
        15:91286229 (GRCh37)
        Canonical SPDI:
        NC_000015.10:90742997:CT:
        Gene:
        BLM (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000009/1 (GnomAD)
        HGVS:

        4.

        rs1491520744 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TG>- [Show Flanks]
          Chromosome:
          15:90784351 (GRCh38)
          15:91327581 (GRCh37)
          Canonical SPDI:
          NC_000015.10:90784350:TG:
          Gene:
          BLM (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:

          5.

          rs1491505998 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            15:90756107 (GRCh38)
            15:91299337 (GRCh37)
            Canonical SPDI:
            NC_000015.10:90756106:CT:
            Gene:
            BLM (Varview), LOC124903590 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1491495870 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CTT [Show Flanks]
              Chromosome:
              15:90785999 (GRCh38)
              15:91329230 (GRCh37)
              Canonical SPDI:
              NC_000015.10:90785999:TT:TTCTT
              Gene:
              BLM (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTCTT=0.00008/1 (ALFA)
              TTC=0.01338/8 (NorthernSweden)
              HGVS:

              7.

              rs1491465980 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                15:90774807 (GRCh38)
                15:91318037 (GRCh37)
                Canonical SPDI:
                NC_000015.10:90774806:CA:
                Gene:
                BLM (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00034/4 (ALFA)
                -=0.00007/6 (GnomAD)
                HGVS:

                8.

                rs1491395086 has merged into rs35083164 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  15:90792092 (GRCh38)
                  15:91335322 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90792083:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  BLM (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTT=0./0 (ALFA)
                  T=0.30409/5096 (TOMMO)
                  -=0.35714/210 (NorthernSweden)
                  -=0.45355/1748 (ALSPAC)
                  -=0.45766/1697 (TWINSUK)
                  -=0.46794/467 (GoNL)
                  HGVS:
                  NC_000015.10:g.90792092_90792093del, NC_000015.10:g.90792093del, NC_000015.10:g.90792093dup, NC_000015.10:g.90792092_90792093dup, NC_000015.10:g.90792091_90792093dup, NC_000015.10:g.90792090_90792093dup, NC_000015.10:g.90792089_90792093dup, NC_000015.10:g.90792088_90792093dup, NC_000015.10:g.90792084_90792093dup, NC_000015.10:g.90792093_90792094insTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.90792093_90792094insTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.90792093_90792094insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.91335322_91335323del, NC_000015.9:g.91335323del, NC_000015.9:g.91335323dup, NC_000015.9:g.91335322_91335323dup, NC_000015.9:g.91335321_91335323dup, NC_000015.9:g.91335320_91335323dup, NC_000015.9:g.91335319_91335323dup, NC_000015.9:g.91335318_91335323dup, NC_000015.9:g.91335314_91335323dup, NC_000015.9:g.91335323_91335324insTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.91335323_91335324insTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.91335323_91335324insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007272.1:g.79721_79722del, NG_007272.1:g.79722del, NG_007272.1:g.79722dup, NG_007272.1:g.79721_79722dup, NG_007272.1:g.79720_79722dup, NG_007272.1:g.79719_79722dup, NG_007272.1:g.79718_79722dup, NG_007272.1:g.79717_79722dup, NG_007272.1:g.79713_79722dup, NG_007272.1:g.79722_79723insTTTTTTTTTTTTTTTTTTTTT, NG_007272.1:g.79722_79723insTTTTTTTTTTTTTTTTTTTTTT, NG_007272.1:g.79722_79723insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                  9.

                  rs1491307740 has merged into rs59331923 [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,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    15:90747247 (GRCh38)
                    15:91290477 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90747237:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    BLM (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAA=0./0 (ALFA)
                    -=0.2/8 (GENOME_DK)
                    HGVS:
                    NC_000015.10:g.90747247_90747263del, NC_000015.10:g.90747248_90747263del, NC_000015.10:g.90747249_90747263del, NC_000015.10:g.90747250_90747263del, NC_000015.10:g.90747251_90747263del, NC_000015.10:g.90747252_90747263del, NC_000015.10:g.90747253_90747263del, NC_000015.10:g.90747254_90747263del, NC_000015.10:g.90747255_90747263del, NC_000015.10:g.90747256_90747263del, NC_000015.10:g.90747257_90747263del, NC_000015.10:g.90747258_90747263del, NC_000015.10:g.90747259_90747263del, NC_000015.10:g.90747260_90747263del, NC_000015.10:g.90747261_90747263del, NC_000015.10:g.90747262_90747263del, NC_000015.10:g.90747263del, NC_000015.10:g.90747263dup, NC_000015.10:g.90747262_90747263dup, NC_000015.10:g.90747261_90747263dup, NC_000015.10:g.90747260_90747263dup, NC_000015.10:g.90747256_90747263dup, NC_000015.10:g.90747255_90747263dup, NC_000015.10:g.90747254_90747263dup, NC_000015.10:g.90747253_90747263dup, NC_000015.10:g.90747252_90747263dup, NC_000015.10:g.90747251_90747263dup, NC_000015.10:g.90747263_90747264insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.91290477_91290493del, NC_000015.9:g.91290478_91290493del, NC_000015.9:g.91290479_91290493del, NC_000015.9:g.91290480_91290493del, NC_000015.9:g.91290481_91290493del, NC_000015.9:g.91290482_91290493del, NC_000015.9:g.91290483_91290493del, NC_000015.9:g.91290484_91290493del, NC_000015.9:g.91290485_91290493del, NC_000015.9:g.91290486_91290493del, NC_000015.9:g.91290487_91290493del, NC_000015.9:g.91290488_91290493del, NC_000015.9:g.91290489_91290493del, NC_000015.9:g.91290490_91290493del, NC_000015.9:g.91290491_91290493del, NC_000015.9:g.91290492_91290493del, NC_000015.9:g.91290493del, NC_000015.9:g.91290493dup, NC_000015.9:g.91290492_91290493dup, NC_000015.9:g.91290491_91290493dup, NC_000015.9:g.91290490_91290493dup, NC_000015.9:g.91290486_91290493dup, NC_000015.9:g.91290485_91290493dup, NC_000015.9:g.91290484_91290493dup, NC_000015.9:g.91290483_91290493dup, NC_000015.9:g.91290482_91290493dup, NC_000015.9:g.91290481_91290493dup, NC_000015.9:g.91290493_91290494insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007272.1:g.34876_34892del, NG_007272.1:g.34877_34892del, NG_007272.1:g.34878_34892del, NG_007272.1:g.34879_34892del, NG_007272.1:g.34880_34892del, NG_007272.1:g.34881_34892del, NG_007272.1:g.34882_34892del, NG_007272.1:g.34883_34892del, NG_007272.1:g.34884_34892del, NG_007272.1:g.34885_34892del, NG_007272.1:g.34886_34892del, NG_007272.1:g.34887_34892del, NG_007272.1:g.34888_34892del, NG_007272.1:g.34889_34892del, NG_007272.1:g.34890_34892del, NG_007272.1:g.34891_34892del, NG_007272.1:g.34892del, NG_007272.1:g.34892dup, NG_007272.1:g.34891_34892dup, NG_007272.1:g.34890_34892dup, NG_007272.1:g.34889_34892dup, NG_007272.1:g.34885_34892dup, NG_007272.1:g.34884_34892dup, NG_007272.1:g.34883_34892dup, NG_007272.1:g.34882_34892dup, NG_007272.1:g.34881_34892dup, NG_007272.1:g.34880_34892dup, NG_007272.1:g.34892_34893insAAAAAAAAAAAAAAAAAAAAAAAAAAA

                    10.

                    rs1491299719 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      15:90770177 (GRCh38)
                      15:91313407 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:90770176:CT:
                      Gene:
                      BLM (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.000084/1 (ALFA)
                      -=0.000084/11 (GnomAD)
                      HGVS:

                      11.

                      rs1491279752 has merged into rs61323062 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        15:90774078 (GRCh38)
                        15:91317308 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90774066:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        BLM (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTT=0./0 (ALFA)
                        -=0.000019/5 (TOPMED)
                        -=0.175/7 (GENOME_DK)
                        HGVS:
                        NC_000015.10:g.90774078_90774092del, NC_000015.10:g.90774079_90774092del, NC_000015.10:g.90774080_90774092del, NC_000015.10:g.90774081_90774092del, NC_000015.10:g.90774082_90774092del, NC_000015.10:g.90774083_90774092del, NC_000015.10:g.90774084_90774092del, NC_000015.10:g.90774085_90774092del, NC_000015.10:g.90774086_90774092del, NC_000015.10:g.90774087_90774092del, NC_000015.10:g.90774088_90774092del, NC_000015.10:g.90774089_90774092del, NC_000015.10:g.90774090_90774092del, NC_000015.10:g.90774091_90774092del, NC_000015.10:g.90774092del, NC_000015.10:g.90774092dup, NC_000015.10:g.90774091_90774092dup, NC_000015.10:g.90774090_90774092dup, NC_000015.10:g.90774089_90774092dup, NC_000015.10:g.90774088_90774092dup, NC_000015.10:g.90774087_90774092dup, NC_000015.10:g.90774081_90774092dup, NC_000015.9:g.91317308_91317322del, NC_000015.9:g.91317309_91317322del, NC_000015.9:g.91317310_91317322del, NC_000015.9:g.91317311_91317322del, NC_000015.9:g.91317312_91317322del, NC_000015.9:g.91317313_91317322del, NC_000015.9:g.91317314_91317322del, NC_000015.9:g.91317315_91317322del, NC_000015.9:g.91317316_91317322del, NC_000015.9:g.91317317_91317322del, NC_000015.9:g.91317318_91317322del, NC_000015.9:g.91317319_91317322del, NC_000015.9:g.91317320_91317322del, NC_000015.9:g.91317321_91317322del, NC_000015.9:g.91317322del, NC_000015.9:g.91317322dup, NC_000015.9:g.91317321_91317322dup, NC_000015.9:g.91317320_91317322dup, NC_000015.9:g.91317319_91317322dup, NC_000015.9:g.91317318_91317322dup, NC_000015.9:g.91317317_91317322dup, NC_000015.9:g.91317311_91317322dup, NG_007272.1:g.61707_61721del, NG_007272.1:g.61708_61721del, NG_007272.1:g.61709_61721del, NG_007272.1:g.61710_61721del, NG_007272.1:g.61711_61721del, NG_007272.1:g.61712_61721del, NG_007272.1:g.61713_61721del, NG_007272.1:g.61714_61721del, NG_007272.1:g.61715_61721del, NG_007272.1:g.61716_61721del, NG_007272.1:g.61717_61721del, NG_007272.1:g.61718_61721del, NG_007272.1:g.61719_61721del, NG_007272.1:g.61720_61721del, NG_007272.1:g.61721del, NG_007272.1:g.61721dup, NG_007272.1:g.61720_61721dup, NG_007272.1:g.61719_61721dup, NG_007272.1:g.61718_61721dup, NG_007272.1:g.61717_61721dup, NG_007272.1:g.61716_61721dup, NG_007272.1:g.61710_61721dup

                        12.

                        rs1491279063 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          ->CTTTTTTTT
                          Chromosome:
                          no mapping
                          Canonical SPDI:

                          13.

                          rs1491249864 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->CTTT
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            14.

                            rs1491249722 has merged into rs11306432 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              15:90743009 (GRCh38)
                              15:91286240 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90742998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              BLM (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              -=0.36881/1847 (1000Genomes)
                              HGVS:
                              NC_000015.10:g.90743009_90743017del, NC_000015.10:g.90743014_90743017del, NC_000015.10:g.90743015_90743017del, NC_000015.10:g.90743016_90743017del, NC_000015.10:g.90743017del, NC_000015.10:g.90743017dup, NC_000015.10:g.90743016_90743017dup, NC_000015.10:g.90743015_90743017dup, NC_000015.10:g.90743010_90743017dup, NC_000015.9:g.91286240_91286248del, NC_000015.9:g.91286245_91286248del, NC_000015.9:g.91286246_91286248del, NC_000015.9:g.91286247_91286248del, NC_000015.9:g.91286248del, NC_000015.9:g.91286248dup, NC_000015.9:g.91286247_91286248dup, NC_000015.9:g.91286246_91286248dup, NC_000015.9:g.91286241_91286248dup, NG_007272.1:g.30639_30647del, NG_007272.1:g.30644_30647del, NG_007272.1:g.30645_30647del, NG_007272.1:g.30646_30647del, NG_007272.1:g.30647del, NG_007272.1:g.30647dup, NG_007272.1:g.30646_30647dup, NG_007272.1:g.30645_30647dup, NG_007272.1:g.30640_30647dup

                              15.

                              rs1491247815 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                15:90747237 (GRCh38)
                                15:91290467 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:90747236:CA:
                                Gene:
                                BLM (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00042/5 (ALFA)
                                HGVS:

                                16.

                                rs1491239962 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->C [Show Flanks]
                                  Chromosome:
                                  15:90774808 (GRCh38)
                                  15:91318039 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:90774808::C
                                  Gene:
                                  BLM (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000023/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1491223096 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CT>- [Show Flanks]
                                    Chromosome:
                                    15:90773511 (GRCh38)
                                    15:91316741 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:90773510:CT:
                                    Gene:
                                    BLM (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1491221877 has merged into rs547597837 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TT>-,T,TTT,TTTTTT [Show Flanks]
                                      Chromosome:
                                      15:90742615 (GRCh38)
                                      15:91285846 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:90742606:TTTTTTTTTT:TTTTTTTT,NC_000015.10:90742606:TTTTTTTTTT:TTTTTTTTT,NC_000015.10:90742606:TTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:90742606:TTTTTTTTTT:TTTTTTTTTTTTTT
                                      Gene:
                                      BLM (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTT=0./0 (ALFA)
                                      T=0.00012/2 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1491214790 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->C,CAC,CACAC,CACACACG,CACG,CG [Show Flanks]
                                        Chromosome:
                                        15:90734697 (GRCh38)
                                        15:91277929 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:90734697::C,NC_000015.10:90734697::CAC,NC_000015.10:90734697::CACAC,NC_000015.10:90734697::CACACACG,NC_000015.10:90734697::CACG,NC_000015.10:90734697::CG
                                        Gene:
                                        BLM (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CACG=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1491170534 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AA>- [Show Flanks]
                                          Chromosome:
                                          15:90735236 (GRCh38)
                                          15:91278467 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:90735235:AA:
                                          Gene:
                                          BLM (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.00019/10 (GnomAD)
                                          HGVS:

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