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1.

rs1491576357 has merged into rs59266525 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAAAA>-,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:951186 (GRCh38)
    17:854426 (GRCh37)
    Canonical SPDI:
    NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:951175:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    NXN (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:

    2.

    rs1491575386 has merged into rs59822805 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      17:909108 (GRCh38)
      17:812348 (GRCh37)
      Canonical SPDI:
      NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:909098:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      NXN (Varview), LOC101927727 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAA=0./0 (ALFA)
      AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
      AAAAAAAAAAAAAAAAA=0.0236/118 (1000Genomes)
      HGVS:
      NC_000017.11:g.909108_909127del, NC_000017.11:g.909109_909127del, NC_000017.11:g.909110_909127del, NC_000017.11:g.909111_909127del, NC_000017.11:g.909112_909127del, NC_000017.11:g.909113_909127del, NC_000017.11:g.909114_909127del, NC_000017.11:g.909115_909127del, NC_000017.11:g.909116_909127del, NC_000017.11:g.909117_909127del, NC_000017.11:g.909118_909127del, NC_000017.11:g.909119_909127del, NC_000017.11:g.909120_909127del, NC_000017.11:g.909121_909127del, NC_000017.11:g.909122_909127del, NC_000017.11:g.909123_909127del, NC_000017.11:g.909124_909127del, NC_000017.11:g.909125_909127del, NC_000017.11:g.909126_909127del, NC_000017.11:g.909127del, NC_000017.11:g.909127dup, NC_000017.11:g.909126_909127dup, NC_000017.11:g.909125_909127dup, NC_000017.11:g.909124_909127dup, NC_000017.11:g.909123_909127dup, NC_000017.11:g.909122_909127dup, NC_000017.11:g.909121_909127dup, NC_000017.11:g.909120_909127dup, NC_000017.11:g.909119_909127dup, NC_000017.11:g.909118_909127dup, NC_000017.11:g.909117_909127dup, NC_000017.11:g.909116_909127dup, NC_000017.11:g.909115_909127dup, NC_000017.11:g.909114_909127dup, NC_000017.11:g.909112_909127dup, NC_000017.11:g.909111_909127dup, NC_000017.11:g.909099_909127dup, NC_000017.10:g.812348_812367del, NC_000017.10:g.812349_812367del, NC_000017.10:g.812350_812367del, NC_000017.10:g.812351_812367del, NC_000017.10:g.812352_812367del, NC_000017.10:g.812353_812367del, NC_000017.10:g.812354_812367del, NC_000017.10:g.812355_812367del, NC_000017.10:g.812356_812367del, NC_000017.10:g.812357_812367del, NC_000017.10:g.812358_812367del, NC_000017.10:g.812359_812367del, NC_000017.10:g.812360_812367del, NC_000017.10:g.812361_812367del, NC_000017.10:g.812362_812367del, NC_000017.10:g.812363_812367del, NC_000017.10:g.812364_812367del, NC_000017.10:g.812365_812367del, NC_000017.10:g.812366_812367del, NC_000017.10:g.812367del, NC_000017.10:g.812367dup, NC_000017.10:g.812366_812367dup, NC_000017.10:g.812365_812367dup, NC_000017.10:g.812364_812367dup, NC_000017.10:g.812363_812367dup, NC_000017.10:g.812362_812367dup, NC_000017.10:g.812361_812367dup, NC_000017.10:g.812360_812367dup, NC_000017.10:g.812359_812367dup, NC_000017.10:g.812358_812367dup, NC_000017.10:g.812357_812367dup, NC_000017.10:g.812356_812367dup, NC_000017.10:g.812355_812367dup, NC_000017.10:g.812354_812367dup, NC_000017.10:g.812352_812367dup, NC_000017.10:g.812351_812367dup, NC_000017.10:g.812339_812367dup

      3.

      rs1491556618 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        17:889749 (GRCh38)
        17:792990 (GRCh37)
        Canonical SPDI:
        NC_000017.11:889749::G
        Gene:
        NXN (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.00363/43 (ALFA)
        G=0.02202/579 (GnomAD)
        HGVS:

        4.

        rs1491531653 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GG>- [Show Flanks]
          Chromosome:
          17:963209 (GRCh38)
          17:866449 (GRCh37)
          Canonical SPDI:
          NC_000017.11:963207:GGG:G
          Gene:
          NXN (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000857/14 (ALFA)
          -=0.003126/14 (Estonian)
          -=0.021446/2472 (GnomAD)
          -=0.085572/548 (1000Genomes)
          -=0.252201/4191 (TOMMO)
          HGVS:

          5.

          rs1491528474 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->ATATATATATATATATATATATATATATATATATATTTTTT,ATATATATATATATATATATATATATATATATT,ATATATATATATATATATATATATATATTTTTT,ATATATATATATATATATATATATATT,ATATATATATATATATATATATATATTT,ATATATATATATATATATATATATATTTT,ATATATATATATATATATATATATATTTTTT,ATATATATATATATATATATATATATTTTTTT,ATATATATATATATATATATATATT,ATATATATATATATATATATATATTTTT,ATATATATATATATATATATATT,ATATATATATATATATATATATTT,ATATATATATATATATATATATTTT,ATATATATATATATATATATT,ATATATATATATATATATATTT,ATATATATATATATATATATTTT,ATATATATATATATATATATTTTT,ATATATATATATATATATATTTTTT,ATATATATATATATATATT,ATATATATATATATATATTT,ATATATATATATATATATTTT,ATATATATATATATATATTTTT,ATATATATATATATATATTTTTT,ATATATATATATATATATTTTTTT,ATATATATATATATATATTTTTTTTTT,ATATATATATATATATT,ATATATATATATATATTT,ATATATATATATATATTTT,ATATATATATATATATTTTT,ATATATATATATATATTTTTT,ATATATATATATATT,ATATATATATATATTT,ATATATATATATATTTT,ATATATATATATATTTTT,ATATATATATATATTTTTT,ATATATATATATATTTTTTT,ATATATATATATATTTTTTTT,ATATATATATATT,ATATATATATATTT,ATATATATATATTTATATATATATATATATATATATTTTT,ATATATATATATTTT,ATATATATATATTTTT,ATATATATATATTTTTT,ATATATATATATTTTTTT,ATATATATATT,ATATATATATTT,ATATATATATTTT,ATATATATATTTTT,ATATATATATTTTTT,ATATATATATTTTTTT,ATATATATT,ATATATATTT,ATATATATTTT,ATATATATTTTT,ATATATATTTTTT,ATATATATTTTTTT,ATATATATTTTTTTT,ATATATATTTTTTTTT,ATATATT,ATATATTT,ATATATTTT,ATATATTTTT,ATATATTTTTT,ATATATTTTTTT,ATATATTTTTTTT,ATATATTTTTTTTTT,ATATT,ATATTT,ATATTTT,ATATTTTT,ATATTTTTT,ATATTTTTTT,ATATTTTTTTT,ATATTTTTTTTTT,ATT,ATTT,ATTTT,ATTTTT,ATTTTTT,ATTTTTTT,ATTTTTTTT,ATTTTTTTTTT [Show Flanks]
            Chromosome:
            17:853723 (GRCh38)
            17:756964 (GRCh37)
            Canonical SPDI:
            NC_000017.11:853723:T:TATATATATATATATATATATATATATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATATATATATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATATATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATATATATATATATTT,NC_000017.11:853723:T:TATATATATATATATATATATATATATTTT,NC_000017.11:853723:T:TATATATATATATATATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATATATATATATATATTTTTTT,NC_000017.11:853723:T:TATATATATATATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATATATATATATTTTT,NC_000017.11:853723:T:TATATATATATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATATATATATTT,NC_000017.11:853723:T:TATATATATATATATATATATATTTT,NC_000017.11:853723:T:TATATATATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATATATATTT,NC_000017.11:853723:T:TATATATATATATATATATATTTT,NC_000017.11:853723:T:TATATATATATATATATATATTTTT,NC_000017.11:853723:T:TATATATATATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATATATTT,NC_000017.11:853723:T:TATATATATATATATATATTTT,NC_000017.11:853723:T:TATATATATATATATATATTTTT,NC_000017.11:853723:T:TATATATATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATATATATTTTTTT,NC_000017.11:853723:T:TATATATATATATATATATTTTTTTTTT,NC_000017.11:853723:T:TATATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATATTT,NC_000017.11:853723:T:TATATATATATATATATTTT,NC_000017.11:853723:T:TATATATATATATATATTTTT,NC_000017.11:853723:T:TATATATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATATT,NC_000017.11:853723:T:TATATATATATATATTT,NC_000017.11:853723:T:TATATATATATATATTTT,NC_000017.11:853723:T:TATATATATATATATTTTT,NC_000017.11:853723:T:TATATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATATTTTTTT,NC_000017.11:853723:T:TATATATATATATATTTTTTTT,NC_000017.11:853723:T:TATATATATATATT,NC_000017.11:853723:T:TATATATATATATTT,NC_000017.11:853723:T:TATATATATATATTTATATATATATATATATATATATTTTT,NC_000017.11:853723:T:TATATATATATATTTT,NC_000017.11:853723:T:TATATATATATATTTTT,NC_000017.11:853723:T:TATATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATATTTTTTT,NC_000017.11:853723:T:TATATATATATT,NC_000017.11:853723:T:TATATATATATTT,NC_000017.11:853723:T:TATATATATATTTT,NC_000017.11:853723:T:TATATATATATTTTT,NC_000017.11:853723:T:TATATATATATTTTTT,NC_000017.11:853723:T:TATATATATATTTTTTT,NC_000017.11:853723:T:TATATATATT,NC_000017.11:853723:T:TATATATATTT,NC_000017.11:853723:T:TATATATATTTT,NC_000017.11:853723:T:TATATATATTTTT,NC_000017.11:853723:T:TATATATATTTTTT,NC_000017.11:853723:T:TATATATATTTTTTT,NC_000017.11:853723:T:TATATATATTTTTTTT,NC_000017.11:853723:T:TATATATATTTTTTTTT,NC_000017.11:853723:T:TATATATT,NC_000017.11:853723:T:TATATATTT,NC_000017.11:853723:T:TATATATTTT,NC_000017.11:853723:T:TATATATTTTT,NC_000017.11:853723:T:TATATATTTTTT,NC_000017.11:853723:T:TATATATTTTTTT,NC_000017.11:853723:T:TATATATTTTTTTT,NC_000017.11:853723:T:TATATATTTTTTTTTT,NC_000017.11:853723:T:TATATT,NC_000017.11:853723:T:TATATTT,NC_000017.11:853723:T:TATATTTT,NC_000017.11:853723:T:TATATTTTT,NC_000017.11:853723:T:TATATTTTTT,NC_000017.11:853723:T:TATATTTTTTT,NC_000017.11:853723:T:TATATTTTTTTT,NC_000017.11:853723:T:TATATTTTTTTTTT,NC_000017.11:853723:T:TATT,NC_000017.11:853723:T:TATTT,NC_000017.11:853723:T:TATTTT,NC_000017.11:853723:T:TATTTTT,NC_000017.11:853723:T:TATTTTTT,NC_000017.11:853723:T:TATTTTTTT,NC_000017.11:853723:T:TATTTTTTTT,NC_000017.11:853723:T:TATTTTTTTTTT
            Gene:
            NXN (Varview), LOC124903894 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TATATATATATATATATATT=0./0 (ALFA)
            HGVS:
            NC_000017.11:g.853724TA[18]T[6], NC_000017.11:g.853724TA[16]TT[1], NC_000017.11:g.853724TA[14]T[6], NC_000017.11:g.853724TA[13]TT[1], NC_000017.11:g.853724TA[13]TTT[1], NC_000017.11:g.853724TA[13]T[4], NC_000017.11:g.853724TA[13]T[6], NC_000017.11:g.853724TA[13]T[7], NC_000017.11:g.853724TA[12]TT[1], NC_000017.11:g.853724TA[12]T[5], NC_000017.11:g.853724TA[11]TT[1], NC_000017.11:g.853724TA[11]TTT[1], NC_000017.11:g.853724TA[11]T[4], NC_000017.11:g.853724TA[10]TT[1], NC_000017.11:g.853724TA[10]TTT[1], NC_000017.11:g.853724TA[10]T[4], NC_000017.11:g.853724TA[10]T[5], NC_000017.11:g.853724TA[10]T[6], NC_000017.11:g.853724TA[9]TT[1], NC_000017.11:g.853724TA[9]TTT[1], NC_000017.11:g.853724TA[9]T[4], NC_000017.11:g.853724TA[9]T[5], NC_000017.11:g.853724TA[9]T[6], NC_000017.11:g.853724TA[9]T[7], NC_000017.11:g.853724TA[9]T[10], NC_000017.11:g.853724TA[8]TT[1], NC_000017.11:g.853724TA[8]TTT[1], NC_000017.11:g.853724TA[8]T[4], NC_000017.11:g.853724TA[8]T[5], NC_000017.11:g.853724TA[8]T[6], NC_000017.11:g.853724TA[7]TT[1], NC_000017.11:g.853724TA[7]TTT[1], NC_000017.11:g.853724TA[7]T[4], NC_000017.11:g.853724TA[7]T[5], NC_000017.11:g.853724TA[7]T[6], NC_000017.11:g.853724TA[7]T[7], NC_000017.11:g.853724TA[7]T[8], NC_000017.11:g.853724TA[6]TT[1], NC_000017.11:g.853724TA[6]TTT[1], NC_000017.11:g.853724TA[6]TTTATATATATATATATATATATATTTTT[1], NC_000017.11:g.853724TA[6]T[4], NC_000017.11:g.853724TA[6]T[5], NC_000017.11:g.853724TA[6]T[6], NC_000017.11:g.853724TA[6]T[7], NC_000017.11:g.853724TA[5]TT[1], NC_000017.11:g.853724TA[5]TTT[1], NC_000017.11:g.853724TA[5]T[4], NC_000017.11:g.853724TA[5]T[5], NC_000017.11:g.853724TA[5]T[6], NC_000017.11:g.853724TA[5]T[7], NC_000017.11:g.853724TA[4]TT[1], NC_000017.11:g.853724TA[4]TTT[1], NC_000017.11:g.853724TA[4]T[4], NC_000017.11:g.853724TA[4]T[5], NC_000017.11:g.853724TA[4]T[6], NC_000017.11:g.853724TA[4]T[7], NC_000017.11:g.853724TA[4]T[8], NC_000017.11:g.853724TA[4]T[9], NC_000017.11:g.853724TA[3]TT[1], NC_000017.11:g.853724TA[3]TTT[1], NC_000017.11:g.853724TA[3]T[4], NC_000017.11:g.853724TA[3]T[5], NC_000017.11:g.853724TA[3]T[6], NC_000017.11:g.853724TA[3]T[7], NC_000017.11:g.853724TA[3]T[8], NC_000017.11:g.853724TA[3]T[10], NC_000017.11:g.853724TA[2]TT[1], NC_000017.11:g.853724TA[2]TTT[1], NC_000017.11:g.853724TA[2]T[4], NC_000017.11:g.853724TA[2]T[5], NC_000017.11:g.853724TA[2]T[6], NC_000017.11:g.853724TA[2]T[7], NC_000017.11:g.853724TA[2]T[8], NC_000017.11:g.853724TA[2]T[10], NC_000017.11:g.853724_853725insATT, NC_000017.11:g.853724_853725insATTT, NC_000017.11:g.853724_853725insATTTT, NC_000017.11:g.853724_853725insATTTTT, NC_000017.11:g.853724_853725insATTTTTT, NC_000017.11:g.853724_853725insATTTTTTT, NC_000017.11:g.853724_853725insATTTTTTTT, NC_000017.11:g.853724_853725insATTTTTTTTTT, NC_000017.10:g.756964TA[18]T[6], NC_000017.10:g.756964TA[16]TT[1], NC_000017.10:g.756964TA[14]T[6], NC_000017.10:g.756964TA[13]TT[1], NC_000017.10:g.756964TA[13]TTT[1], NC_000017.10:g.756964TA[13]T[4], NC_000017.10:g.756964TA[13]T[6], NC_000017.10:g.756964TA[13]T[7], NC_000017.10:g.756964TA[12]TT[1], NC_000017.10:g.756964TA[12]T[5], NC_000017.10:g.756964TA[11]TT[1], NC_000017.10:g.756964TA[11]TTT[1], NC_000017.10:g.756964TA[11]T[4], NC_000017.10:g.756964TA[10]TT[1], NC_000017.10:g.756964TA[10]TTT[1], NC_000017.10:g.756964TA[10]T[4], NC_000017.10:g.756964TA[10]T[5], NC_000017.10:g.756964TA[10]T[6], NC_000017.10:g.756964TA[9]TT[1], NC_000017.10:g.756964TA[9]TTT[1], NC_000017.10:g.756964TA[9]T[4], NC_000017.10:g.756964TA[9]T[5], NC_000017.10:g.756964TA[9]T[6], NC_000017.10:g.756964TA[9]T[7], NC_000017.10:g.756964TA[9]T[10], NC_000017.10:g.756964TA[8]TT[1], NC_000017.10:g.756964TA[8]TTT[1], NC_000017.10:g.756964TA[8]T[4], NC_000017.10:g.756964TA[8]T[5], NC_000017.10:g.756964TA[8]T[6], NC_000017.10:g.756964TA[7]TT[1], NC_000017.10:g.756964TA[7]TTT[1], NC_000017.10:g.756964TA[7]T[4], NC_000017.10:g.756964TA[7]T[5], NC_000017.10:g.756964TA[7]T[6], NC_000017.10:g.756964TA[7]T[7], NC_000017.10:g.756964TA[7]T[8], NC_000017.10:g.756964TA[6]TT[1], NC_000017.10:g.756964TA[6]TTT[1], NC_000017.10:g.756964TA[6]TTTATATATATATATATATATATATTTTT[1], NC_000017.10:g.756964TA[6]T[4], NC_000017.10:g.756964TA[6]T[5], NC_000017.10:g.756964TA[6]T[6], NC_000017.10:g.756964TA[6]T[7], NC_000017.10:g.756964TA[5]TT[1], NC_000017.10:g.756964TA[5]TTT[1], NC_000017.10:g.756964TA[5]T[4], NC_000017.10:g.756964TA[5]T[5], NC_000017.10:g.756964TA[5]T[6], NC_000017.10:g.756964TA[5]T[7], NC_000017.10:g.756964TA[4]TT[1], NC_000017.10:g.756964TA[4]TTT[1], NC_000017.10:g.756964TA[4]T[4], NC_000017.10:g.756964TA[4]T[5], NC_000017.10:g.756964TA[4]T[6], NC_000017.10:g.756964TA[4]T[7], NC_000017.10:g.756964TA[4]T[8], NC_000017.10:g.756964TA[4]T[9], NC_000017.10:g.756964TA[3]TT[1], NC_000017.10:g.756964TA[3]TTT[1], NC_000017.10:g.756964TA[3]T[4], NC_000017.10:g.756964TA[3]T[5], NC_000017.10:g.756964TA[3]T[6], NC_000017.10:g.756964TA[3]T[7], NC_000017.10:g.756964TA[3]T[8], NC_000017.10:g.756964TA[3]T[10], NC_000017.10:g.756964TA[2]TT[1], NC_000017.10:g.756964TA[2]TTT[1], NC_000017.10:g.756964TA[2]T[4], NC_000017.10:g.756964TA[2]T[5], NC_000017.10:g.756964TA[2]T[6], NC_000017.10:g.756964TA[2]T[7], NC_000017.10:g.756964TA[2]T[8], NC_000017.10:g.756964TA[2]T[10], NC_000017.10:g.756964_756965insATT, NC_000017.10:g.756964_756965insATTT, NC_000017.10:g.756964_756965insATTTT, NC_000017.10:g.756964_756965insATTTTT, NC_000017.10:g.756964_756965insATTTTTT, NC_000017.10:g.756964_756965insATTTTTTT, NC_000017.10:g.756964_756965insATTTTTTTT, NC_000017.10:g.756964_756965insATTTTTTTTTT

            6.

            rs1491518399 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CACACAC [Show Flanks]
              Chromosome:
              17:958957 (GRCh38)
              17:862198 (GRCh37)
              Canonical SPDI:
              NC_000017.11:958957:CACACAC:CACACACCACACAC
              Gene:
              NXN (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACACACCACACAC=0.000422/5 (ALFA)
              CACACAC=0.000336/45 (GnomAD)
              CACACAC=0.000412/109 (TOPMED)
              CACACAC=0.000781/5 (1000Genomes)
              HGVS:

              7.

              rs1491495553 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->AG [Show Flanks]
                Chromosome:
                17:812913 (GRCh38)
                17:716154 (GRCh37)
                Canonical SPDI:
                NC_000017.11:812913::AG
                Gene:
                NXN (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AG=0.00995/118 (ALFA)
                HGVS:

                8.

                rs1491490820 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  17:936091 (GRCh38)
                  17:839331 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:936090:CA:
                  Gene:
                  NXN (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491488601 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CG>- [Show Flanks]
                    Chromosome:
                    17:951349 (GRCh38)
                    17:854589 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:951348:CG:
                    Gene:
                    NXN (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.0002/1 (ALFA)
                    HGVS:

                    10.

                    rs1491479022 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      17:909099 (GRCh38)
                      17:812340 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:909099::C
                      Gene:
                      NXN (Varview), LOC101927727 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1491477619 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>-,A,AAA [Show Flanks]
                        Chromosome:
                        17:843014 (GRCh38)
                        17:746254 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:843012:AAA:A,NC_000017.11:843012:AAA:AA,NC_000017.11:843012:AAA:AAAA
                        Gene:
                        NXN (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAA=0./0 (ALFA)
                        -=0.00051/8 (TOMMO)
                        -=0.00166/3 (Korea1K)
                        HGVS:

                        12.

                        rs1491477298 has merged into rs541094677 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GAAG>-,GAAGGAAG [Show Flanks]
                          Chromosome:
                          17:843060 (GRCh38)
                          17:746300 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:843055:GAAGGAAG:GAAG,NC_000017.11:843055:GAAGGAAG:GAAGGAAGGAAG
                          Gene:
                          NXN (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GAAGGAAGGAAG=0./0 (ALFA)
                          -=0.04333/26 (NorthernSweden)
                          -=0.04662/780 (TOMMO)
                          -=0.04749/87 (Korea1K)
                          -=0.14051/521 (TWINSUK)
                          -=0.18526/714 (ALSPAC)
                          HGVS:

                          13.

                          rs1491477212 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->CTT
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            14.

                            rs1491460282 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->G [Show Flanks]
                              Chromosome:
                              17:889752 (GRCh38)
                              17:792993 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:889752::G
                              Gene:
                              NXN (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.00009/2 (GnomAD)
                              HGVS:

                              15.

                              rs1491459819 has merged into rs55751712 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
                                Chromosome:
                                17:849527 (GRCh38)
                                17:752767 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:849518:AAAAAAAAAA:AAAAAAAA,NC_000017.11:849518:AAAAAAAAAA:AAAAAAAAA,NC_000017.11:849518:AAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:849518:AAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:849518:AAAAAAAAAA:AAAAAAAAAAAAA
                                Gene:
                                NXN (Varview), LOC124903894 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAA=0./0 (ALFA)
                                -=0.00006/16 (TOPMED)
                                -=0.107827/540 (1000Genomes)
                                -=0.182724/770 (Estonian)
                                HGVS:

                                16.

                                rs1491457969 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CG>- [Show Flanks]
                                  Chromosome:
                                  17:924728 (GRCh38)
                                  17:827968 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:924727:CG:
                                  Gene:
                                  NXN (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.000035/1 (TOMMO)
                                  -=0.000057/8 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1491454775 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    GA>- [Show Flanks]
                                    Chromosome:
                                    17:917826 (GRCh38)
                                    17:821066 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:917825:GA:
                                    Gene:
                                    NXN (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1491422099 has merged into rs577293334 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
                                      Chromosome:
                                      17:832366 (GRCh38)
                                      17:735606 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:832353:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:832353:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:832353:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:832353:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:832353:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
                                      Gene:
                                      NXN (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTTTTT=0./0 (ALFA)
                                      T=0.3483/209 (NorthernSweden)
                                      T=0.4/16 (GENOME_DK)
                                      -=0.4028/2017 (1000Genomes)
                                      HGVS:

                                      19.

                                      rs1491411583 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AT>- [Show Flanks]
                                        Chromosome:
                                        17:812852 (GRCh38)
                                        17:716092 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:812851:AT:
                                        Gene:
                                        NXN (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000008/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        -=0.000036/1 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1491411111 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GT>- [Show Flanks]
                                          Chromosome:
                                          17:812858 (GRCh38)
                                          17:716098 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:812852:TGTGTGT:TGTGT
                                          Gene:
                                          NXN (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TGTGT=0.000306/5 (ALFA)
                                          -=0.000036/1 (TOMMO)
                                          -=0.000312/37 (GnomAD)
                                          HGVS:

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