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1.

rs1491537610 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A,GT,GTT,GTTT,GTTTT,GTTTTTTTT,GTTTTTTTTTTTT,GTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    4:168917049 (GRCh38)
    4:169838201 (GRCh37)
    Canonical SPDI:
    NC_000004.12:168917049::A,NC_000004.12:168917049::GT,NC_000004.12:168917049::GTT,NC_000004.12:168917049::GTTT,NC_000004.12:168917049::GTTTT,NC_000004.12:168917049::GTTTTTTTT,NC_000004.12:168917049::GTTTTTTTTTTTT,NC_000004.12:168917049::GTTTTTTTTTTTTT,NC_000004.12:168917049::GTTTTTTTTTTTTTTTTTTTTT
    Gene:
    PALLD (Varview), CBR4 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTTTT=0.00088/14 (ALFA)
    GT=0.00106/18 (TOMMO)
    HGVS:
    NC_000004.12:g.168917049_168917050insA, NC_000004.12:g.168917049_168917050insGT, NC_000004.12:g.168917049_168917050insGTT, NC_000004.12:g.168917049_168917050insGTTT, NC_000004.12:g.168917049_168917050insGTTTT, NC_000004.12:g.168917049_168917050insGTTTTTTTT, NC_000004.12:g.168917049_168917050insGTTTTTTTTTTTT, NC_000004.12:g.168917049_168917050insGTTTTTTTTTTTTT, NC_000004.12:g.168917049_168917050insGTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169838200_169838201insA, NC_000004.11:g.169838200_169838201insGT, NC_000004.11:g.169838200_169838201insGTT, NC_000004.11:g.169838200_169838201insGTTT, NC_000004.11:g.169838200_169838201insGTTTT, NC_000004.11:g.169838200_169838201insGTTTTTTTT, NC_000004.11:g.169838200_169838201insGTTTTTTTTTTTT, NC_000004.11:g.169838200_169838201insGTTTTTTTTTTTTT, NC_000004.11:g.169838200_169838201insGTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.424984_424985insA, NG_013376.1:g.424984_424985insGT, NG_013376.1:g.424984_424985insGTT, NG_013376.1:g.424984_424985insGTTT, NG_013376.1:g.424984_424985insGTTTT, NG_013376.1:g.424984_424985insGTTTTTTTT, NG_013376.1:g.424984_424985insGTTTTTTTTTTTT, NG_013376.1:g.424984_424985insGTTTTTTTTTTTTT, NG_013376.1:g.424984_424985insGTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491528704 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      4:168932269 (GRCh38)
      4:169853420 (GRCh37)
      Canonical SPDI:
      NC_000004.12:168932268:TA:
      Gene:
      CBR4 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1491523878 has merged into rs59427697 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        4:168905798 (GRCh38)
        4:169826949 (GRCh37)
        Canonical SPDI:
        NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905790:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        PALLD (Varview), CBR4 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTT=0./0 (ALFA)
        T=0.3618/1812 (1000Genomes)
        HGVS:
        NC_000004.12:g.168905798_168905810del, NC_000004.12:g.168905800_168905810del, NC_000004.12:g.168905801_168905810del, NC_000004.12:g.168905802_168905810del, NC_000004.12:g.168905803_168905810del, NC_000004.12:g.168905804_168905810del, NC_000004.12:g.168905805_168905810del, NC_000004.12:g.168905807_168905810del, NC_000004.12:g.168905808_168905810del, NC_000004.12:g.168905809_168905810del, NC_000004.12:g.168905810del, NC_000004.12:g.168905810dup, NC_000004.12:g.168905809_168905810dup, NC_000004.12:g.168905808_168905810dup, NC_000004.12:g.168905807_168905810dup, NC_000004.12:g.168905806_168905810dup, NC_000004.12:g.168905805_168905810dup, NC_000004.12:g.168905804_168905810dup, NC_000004.12:g.168905803_168905810dup, NC_000004.12:g.168905802_168905810dup, NC_000004.12:g.168905791_168905810T[29]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.168905801_168905810dup, NC_000004.12:g.168905800_168905810dup, NC_000004.12:g.168905799_168905810dup, NC_000004.12:g.168905798_168905810dup, NC_000004.12:g.168905797_168905810dup, NC_000004.12:g.168905796_168905810dup, NC_000004.12:g.168905795_168905810dup, NC_000004.12:g.168905794_168905810dup, NC_000004.12:g.168905793_168905810dup, NC_000004.12:g.168905792_168905810dup, NC_000004.12:g.168905791_168905810dup, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.168905810_168905811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826949_169826961del, NC_000004.11:g.169826951_169826961del, NC_000004.11:g.169826952_169826961del, NC_000004.11:g.169826953_169826961del, NC_000004.11:g.169826954_169826961del, NC_000004.11:g.169826955_169826961del, NC_000004.11:g.169826956_169826961del, NC_000004.11:g.169826958_169826961del, NC_000004.11:g.169826959_169826961del, NC_000004.11:g.169826960_169826961del, NC_000004.11:g.169826961del, NC_000004.11:g.169826961dup, NC_000004.11:g.169826960_169826961dup, NC_000004.11:g.169826959_169826961dup, NC_000004.11:g.169826958_169826961dup, NC_000004.11:g.169826957_169826961dup, NC_000004.11:g.169826956_169826961dup, NC_000004.11:g.169826955_169826961dup, NC_000004.11:g.169826954_169826961dup, NC_000004.11:g.169826953_169826961dup, NC_000004.11:g.169826942_169826961T[29]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.169826952_169826961dup, NC_000004.11:g.169826951_169826961dup, NC_000004.11:g.169826950_169826961dup, NC_000004.11:g.169826949_169826961dup, NC_000004.11:g.169826948_169826961dup, NC_000004.11:g.169826947_169826961dup, NC_000004.11:g.169826946_169826961dup, NC_000004.11:g.169826945_169826961dup, NC_000004.11:g.169826944_169826961dup, NC_000004.11:g.169826943_169826961dup, NC_000004.11:g.169826942_169826961dup, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.169826961_169826962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413733_413745del, NG_013376.1:g.413735_413745del, NG_013376.1:g.413736_413745del, NG_013376.1:g.413737_413745del, NG_013376.1:g.413738_413745del, NG_013376.1:g.413739_413745del, NG_013376.1:g.413740_413745del, NG_013376.1:g.413742_413745del, NG_013376.1:g.413743_413745del, NG_013376.1:g.413744_413745del, NG_013376.1:g.413745del, NG_013376.1:g.413745dup, NG_013376.1:g.413744_413745dup, NG_013376.1:g.413743_413745dup, NG_013376.1:g.413742_413745dup, NG_013376.1:g.413741_413745dup, NG_013376.1:g.413740_413745dup, NG_013376.1:g.413739_413745dup, NG_013376.1:g.413738_413745dup, NG_013376.1:g.413737_413745dup, NG_013376.1:g.413726_413745T[29]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_013376.1:g.413736_413745dup, NG_013376.1:g.413735_413745dup, NG_013376.1:g.413734_413745dup, NG_013376.1:g.413733_413745dup, NG_013376.1:g.413732_413745dup, NG_013376.1:g.413731_413745dup, NG_013376.1:g.413730_413745dup, NG_013376.1:g.413729_413745dup, NG_013376.1:g.413728_413745dup, NG_013376.1:g.413727_413745dup, NG_013376.1:g.413726_413745dup, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013376.1:g.413745_413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

        4.

        rs1491478556 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AC>- [Show Flanks]
          Chromosome:
          4:168922162 (GRCh38)
          4:169843313 (GRCh37)
          Canonical SPDI:
          NC_000004.12:168922159:ACAC:AC
          Gene:
          PALLD (Varview), CBR4 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACAC=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1491471796 has merged into rs35396431 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
            Chromosome:
            4:168999648 (GRCh38)
            4:169920799 (GRCh37)
            Canonical SPDI:
            NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168999636:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
            Gene:
            CBR4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAA=0./0 (ALFA)
            -=0.000015/4 (TOPMED)
            HGVS:

            6.

            rs1491469881 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->GAT [Show Flanks]
              Chromosome:
              4:168925975 (GRCh38)
              4:169847127 (GRCh37)
              Canonical SPDI:
              NC_000004.12:168925975::GAT
              Gene:
              PALLD (Varview), CBR4 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GAT=0./0 (ALFA)
              GAT=0.000007/1 (GnomAD)
              GAT=0.000015/4 (TOPMED)
              HGVS:

              7.

              rs1491466732 has merged into rs70961563 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                4:168910234 (GRCh38)
                4:169831385 (GRCh37)
                Canonical SPDI:
                NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168910220:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                PALLD (Varview), CBR4 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTT=0./0 (ALFA)
                TT=0.4519/2263 (1000Genomes)
                HGVS:
                NC_000004.12:g.168910234_168910241del, NC_000004.12:g.168910235_168910241del, NC_000004.12:g.168910236_168910241del, NC_000004.12:g.168910237_168910241del, NC_000004.12:g.168910238_168910241del, NC_000004.12:g.168910239_168910241del, NC_000004.12:g.168910240_168910241del, NC_000004.12:g.168910241del, NC_000004.12:g.168910241dup, NC_000004.12:g.168910240_168910241dup, NC_000004.12:g.168910239_168910241dup, NC_000004.12:g.168910238_168910241dup, NC_000004.12:g.168910237_168910241dup, NC_000004.12:g.168910236_168910241dup, NC_000004.12:g.168910235_168910241dup, NC_000004.12:g.168910234_168910241dup, NC_000004.12:g.168910232_168910241dup, NC_000004.12:g.168910228_168910241dup, NC_000004.12:g.168910224_168910241dup, NC_000004.11:g.169831385_169831392del, NC_000004.11:g.169831386_169831392del, NC_000004.11:g.169831387_169831392del, NC_000004.11:g.169831388_169831392del, NC_000004.11:g.169831389_169831392del, NC_000004.11:g.169831390_169831392del, NC_000004.11:g.169831391_169831392del, NC_000004.11:g.169831392del, NC_000004.11:g.169831392dup, NC_000004.11:g.169831391_169831392dup, NC_000004.11:g.169831390_169831392dup, NC_000004.11:g.169831389_169831392dup, NC_000004.11:g.169831388_169831392dup, NC_000004.11:g.169831387_169831392dup, NC_000004.11:g.169831386_169831392dup, NC_000004.11:g.169831385_169831392dup, NC_000004.11:g.169831383_169831392dup, NC_000004.11:g.169831379_169831392dup, NC_000004.11:g.169831375_169831392dup, NG_013376.1:g.418169_418176del, NG_013376.1:g.418170_418176del, NG_013376.1:g.418171_418176del, NG_013376.1:g.418172_418176del, NG_013376.1:g.418173_418176del, NG_013376.1:g.418174_418176del, NG_013376.1:g.418175_418176del, NG_013376.1:g.418176del, NG_013376.1:g.418176dup, NG_013376.1:g.418175_418176dup, NG_013376.1:g.418174_418176dup, NG_013376.1:g.418173_418176dup, NG_013376.1:g.418172_418176dup, NG_013376.1:g.418171_418176dup, NG_013376.1:g.418170_418176dup, NG_013376.1:g.418169_418176dup, NG_013376.1:g.418167_418176dup, NG_013376.1:g.418163_418176dup, NG_013376.1:g.418159_418176dup

                8.

                rs1491439098 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CT>- [Show Flanks]
                  Chromosome:
                  4:168910220 (GRCh38)
                  4:169831371 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:168910219:CT:
                  Gene:
                  PALLD (Varview), CBR4 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00008/1 (ALFA)
                  HGVS:

                  9.

                  rs1491436937 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    4:168999636 (GRCh38)
                    4:169920787 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:168999635:CA:
                    Gene:
                    CBR4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1491421392 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GTTTTT [Show Flanks]
                      Chromosome:
                      4:168905139 (GRCh38)
                      4:169826291 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:168905139:TTTTT:TTTTTGTTTTT
                      Gene:
                      PALLD (Varview), CBR4 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      TTTTTG=0.00004/1 (TOMMO)
                      HGVS:

                      11.

                      rs1491385580 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CACT [Show Flanks]
                        Chromosome:
                        4:168922160 (GRCh38)
                        4:169843312 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:168922160:CACT:CACTCACT
                        Gene:
                        PALLD (Varview), CBR4 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CACTCACT=0./0 (ALFA)
                        CACT=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1491361616 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          4:168921406 (GRCh38)
                          4:169842557 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:168921405:CA:
                          Gene:
                          PALLD (Varview), CBR4 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491350907 has merged into rs146746895 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TT>-,T,TTT [Show Flanks]
                            Chromosome:
                            4:168897975 (GRCh38)
                            4:169819126 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:168897965:TTTTTTTTTTT:TTTTTTTTTTTT
                            Gene:
                            PALLD (Varview), CBR4 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTT=0.000746/10 (ALFA)
                            -=0.05/2 (GENOME_DK)
                            -=0.09/54 (NorthernSweden)
                            -=0.106629/534 (1000Genomes)
                            -=0.117853/437 (TWINSUK)
                            -=0.126926/33596 (TOPMED)
                            -=0.129476/499 (ALSPAC)
                            HGVS:

                            14.

                            rs1491340229 has merged into rs34433008 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              4:169002751 (GRCh38)
                              4:169923902 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169002740:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              CBR4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTTT=0./0 (ALFA)
                              -=0.3754/1880 (1000Genomes)
                              HGVS:

                              15.

                              rs1491314131 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TA>- [Show Flanks]
                                Chromosome:
                                4:168990436 (GRCh38)
                                4:169911587 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:168990435:TA:
                                Gene:
                                CBR4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.000071/1 (ALFA)
                                -=0.000036/5 (GnomAD)
                                -=0.000064/17 (TOPMED)
                                HGVS:

                                16.

                                rs1491278256 has merged into rs777740588 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  4:168905156 (GRCh38)
                                  4:169826307 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:168905138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  PALLD (Varview), CBR4 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                                  -=0.00958/17 (Korea1K)
                                  -=0.05/2 (GENOME_DK)
                                  HGVS:
                                  NC_000004.12:g.168905156_168905168del, NC_000004.12:g.168905157_168905168del, NC_000004.12:g.168905158_168905168del, NC_000004.12:g.168905159_168905168del, NC_000004.12:g.168905161_168905168del, NC_000004.12:g.168905162_168905168del, NC_000004.12:g.168905163_168905168del, NC_000004.12:g.168905164_168905168del, NC_000004.12:g.168905165_168905168del, NC_000004.12:g.168905166_168905168del, NC_000004.12:g.168905167_168905168del, NC_000004.12:g.168905168del, NC_000004.12:g.168905168dup, NC_000004.12:g.168905167_168905168dup, NC_000004.12:g.168905166_168905168dup, NC_000004.12:g.168905165_168905168dup, NC_000004.12:g.168905164_168905168dup, NC_000004.12:g.168905162_168905168dup, NC_000004.11:g.169826307_169826319del, NC_000004.11:g.169826308_169826319del, NC_000004.11:g.169826309_169826319del, NC_000004.11:g.169826310_169826319del, NC_000004.11:g.169826312_169826319del, NC_000004.11:g.169826313_169826319del, NC_000004.11:g.169826314_169826319del, NC_000004.11:g.169826315_169826319del, NC_000004.11:g.169826316_169826319del, NC_000004.11:g.169826317_169826319del, NC_000004.11:g.169826318_169826319del, NC_000004.11:g.169826319del, NC_000004.11:g.169826319dup, NC_000004.11:g.169826318_169826319dup, NC_000004.11:g.169826317_169826319dup, NC_000004.11:g.169826316_169826319dup, NC_000004.11:g.169826315_169826319dup, NC_000004.11:g.169826313_169826319dup, NG_013376.1:g.413091_413103del, NG_013376.1:g.413092_413103del, NG_013376.1:g.413093_413103del, NG_013376.1:g.413094_413103del, NG_013376.1:g.413096_413103del, NG_013376.1:g.413097_413103del, NG_013376.1:g.413098_413103del, NG_013376.1:g.413099_413103del, NG_013376.1:g.413100_413103del, NG_013376.1:g.413101_413103del, NG_013376.1:g.413102_413103del, NG_013376.1:g.413103del, NG_013376.1:g.413103dup, NG_013376.1:g.413102_413103dup, NG_013376.1:g.413101_413103dup, NG_013376.1:g.413100_413103dup, NG_013376.1:g.413099_413103dup, NG_013376.1:g.413097_413103dup

                                  17.

                                  rs1491272887 has merged into rs59962690 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    4:168956609 (GRCh38)
                                    4:169877760 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:168956597:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    CBR4 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAA=0./0 (ALFA)
                                    HGVS:
                                    NC_000004.12:g.168956609_168956627del, NC_000004.12:g.168956611_168956627del, NC_000004.12:g.168956612_168956627del, NC_000004.12:g.168956613_168956627del, NC_000004.12:g.168956614_168956627del, NC_000004.12:g.168956615_168956627del, NC_000004.12:g.168956616_168956627del, NC_000004.12:g.168956617_168956627del, NC_000004.12:g.168956618_168956627del, NC_000004.12:g.168956619_168956627del, NC_000004.12:g.168956620_168956627del, NC_000004.12:g.168956621_168956627del, NC_000004.12:g.168956622_168956627del, NC_000004.12:g.168956623_168956627del, NC_000004.12:g.168956624_168956627del, NC_000004.12:g.168956625_168956627del, NC_000004.12:g.168956626_168956627del, NC_000004.12:g.168956627del, NC_000004.12:g.168956627dup, NC_000004.12:g.168956626_168956627dup, NC_000004.12:g.168956625_168956627dup, NC_000004.12:g.168956624_168956627dup, NC_000004.12:g.168956623_168956627dup, NC_000004.12:g.168956622_168956627dup, NC_000004.12:g.168956621_168956627dup, NC_000004.12:g.168956620_168956627dup, NC_000004.12:g.168956619_168956627dup, NC_000004.12:g.168956618_168956627dup, NC_000004.12:g.168956616_168956627dup, NC_000004.12:g.168956608_168956627dup, NC_000004.12:g.168956606_168956627dup, NC_000004.12:g.168956598_168956627dup, NC_000004.11:g.169877760_169877778del, NC_000004.11:g.169877762_169877778del, NC_000004.11:g.169877763_169877778del, NC_000004.11:g.169877764_169877778del, NC_000004.11:g.169877765_169877778del, NC_000004.11:g.169877766_169877778del, NC_000004.11:g.169877767_169877778del, NC_000004.11:g.169877768_169877778del, NC_000004.11:g.169877769_169877778del, NC_000004.11:g.169877770_169877778del, NC_000004.11:g.169877771_169877778del, NC_000004.11:g.169877772_169877778del, NC_000004.11:g.169877773_169877778del, NC_000004.11:g.169877774_169877778del, NC_000004.11:g.169877775_169877778del, NC_000004.11:g.169877776_169877778del, NC_000004.11:g.169877777_169877778del, NC_000004.11:g.169877778del, NC_000004.11:g.169877778dup, NC_000004.11:g.169877777_169877778dup, NC_000004.11:g.169877776_169877778dup, NC_000004.11:g.169877775_169877778dup, NC_000004.11:g.169877774_169877778dup, NC_000004.11:g.169877773_169877778dup, NC_000004.11:g.169877772_169877778dup, NC_000004.11:g.169877771_169877778dup, NC_000004.11:g.169877770_169877778dup, NC_000004.11:g.169877769_169877778dup, NC_000004.11:g.169877767_169877778dup, NC_000004.11:g.169877759_169877778dup, NC_000004.11:g.169877757_169877778dup, NC_000004.11:g.169877749_169877778dup

                                    18.

                                    rs1491267993 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      ->TTTTTTTTGTTTTTTTTTTTTTTTTTTT
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:

                                      19.

                                      rs1491264418 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GT>- [Show Flanks]
                                        Chromosome:
                                        4:168917049 (GRCh38)
                                        4:169838200 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:168917048:GT:
                                        Gene:
                                        PALLD (Varview), CBR4 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.000084/1 (ALFA)
                                        -=0.000008/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491234385 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AT>- [Show Flanks]
                                          Chromosome:
                                          4:168897965 (GRCh38)
                                          4:169819116 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:168897964:AT:
                                          Gene:
                                          PALLD (Varview), CBR4 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0.00017/2 (ALFA)
                                          HGVS:

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