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Items: 1 to 20 of 29508

1.

rs1491588784 has merged into rs869037347 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    15:90450342 (GRCh38)
    15:90993574 (GRCh37)
    Canonical SPDI:
    NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90450330:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    IQGAP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000015.10:g.90450342_90450363del, NC_000015.10:g.90450343_90450363del, NC_000015.10:g.90450344_90450363del, NC_000015.10:g.90450345_90450363del, NC_000015.10:g.90450346_90450363del, NC_000015.10:g.90450347_90450363del, NC_000015.10:g.90450348_90450363del, NC_000015.10:g.90450349_90450363del, NC_000015.10:g.90450350_90450363del, NC_000015.10:g.90450351_90450363del, NC_000015.10:g.90450352_90450363del, NC_000015.10:g.90450353_90450363del, NC_000015.10:g.90450354_90450363del, NC_000015.10:g.90450355_90450363del, NC_000015.10:g.90450356_90450363del, NC_000015.10:g.90450357_90450363del, NC_000015.10:g.90450358_90450363del, NC_000015.10:g.90450359_90450363del, NC_000015.10:g.90450360_90450363del, NC_000015.10:g.90450361_90450363del, NC_000015.10:g.90450362_90450363del, NC_000015.10:g.90450363del, NC_000015.10:g.90450363dup, NC_000015.10:g.90450362_90450363dup, NC_000015.10:g.90450361_90450363dup, NC_000015.10:g.90450360_90450363dup, NC_000015.10:g.90450331_90450363T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.90450331_90450363T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.90450359_90450363dup, NC_000015.10:g.90450358_90450363dup, NC_000015.10:g.90450357_90450363dup, NC_000015.10:g.90450356_90450363dup, NC_000015.10:g.90450355_90450363dup, NC_000015.10:g.90450353_90450363dup, NC_000015.10:g.90450352_90450363dup, NC_000015.10:g.90450351_90450363dup, NC_000015.10:g.90450349_90450363dup, NC_000015.10:g.90450348_90450363dup, NC_000015.10:g.90450347_90450363dup, NC_000015.10:g.90450346_90450363dup, NC_000015.10:g.90450345_90450363dup, NC_000015.10:g.90450344_90450363dup, NC_000015.10:g.90450342_90450363dup, NC_000015.10:g.90450340_90450363dup, NC_000015.10:g.90450338_90450363dup, NC_000015.9:g.90993574_90993595del, NC_000015.9:g.90993575_90993595del, NC_000015.9:g.90993576_90993595del, NC_000015.9:g.90993577_90993595del, NC_000015.9:g.90993578_90993595del, NC_000015.9:g.90993579_90993595del, NC_000015.9:g.90993580_90993595del, NC_000015.9:g.90993581_90993595del, NC_000015.9:g.90993582_90993595del, NC_000015.9:g.90993583_90993595del, NC_000015.9:g.90993584_90993595del, NC_000015.9:g.90993585_90993595del, NC_000015.9:g.90993586_90993595del, NC_000015.9:g.90993587_90993595del, NC_000015.9:g.90993588_90993595del, NC_000015.9:g.90993589_90993595del, NC_000015.9:g.90993590_90993595del, NC_000015.9:g.90993591_90993595del, NC_000015.9:g.90993592_90993595del, NC_000015.9:g.90993593_90993595del, NC_000015.9:g.90993594_90993595del, NC_000015.9:g.90993595del, NC_000015.9:g.90993595dup, NC_000015.9:g.90993594_90993595dup, NC_000015.9:g.90993593_90993595dup, NC_000015.9:g.90993592_90993595dup, NC_000015.9:g.90993563_90993595T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.90993563_90993595T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.90993591_90993595dup, NC_000015.9:g.90993590_90993595dup, NC_000015.9:g.90993589_90993595dup, NC_000015.9:g.90993588_90993595dup, NC_000015.9:g.90993587_90993595dup, NC_000015.9:g.90993585_90993595dup, NC_000015.9:g.90993584_90993595dup, NC_000015.9:g.90993583_90993595dup, NC_000015.9:g.90993581_90993595dup, NC_000015.9:g.90993580_90993595dup, NC_000015.9:g.90993579_90993595dup, NC_000015.9:g.90993578_90993595dup, NC_000015.9:g.90993577_90993595dup, NC_000015.9:g.90993576_90993595dup, NC_000015.9:g.90993574_90993595dup, NC_000015.9:g.90993572_90993595dup, NC_000015.9:g.90993570_90993595dup, NG_052946.1:g.67102_67123del, NG_052946.1:g.67103_67123del, NG_052946.1:g.67104_67123del, NG_052946.1:g.67105_67123del, NG_052946.1:g.67106_67123del, NG_052946.1:g.67107_67123del, NG_052946.1:g.67108_67123del, NG_052946.1:g.67109_67123del, NG_052946.1:g.67110_67123del, NG_052946.1:g.67111_67123del, NG_052946.1:g.67112_67123del, NG_052946.1:g.67113_67123del, NG_052946.1:g.67114_67123del, NG_052946.1:g.67115_67123del, NG_052946.1:g.67116_67123del, NG_052946.1:g.67117_67123del, NG_052946.1:g.67118_67123del, NG_052946.1:g.67119_67123del, NG_052946.1:g.67120_67123del, NG_052946.1:g.67121_67123del, NG_052946.1:g.67122_67123del, NG_052946.1:g.67123del, NG_052946.1:g.67123dup, NG_052946.1:g.67122_67123dup, NG_052946.1:g.67121_67123dup, NG_052946.1:g.67120_67123dup, NG_052946.1:g.67091_67123T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_052946.1:g.67091_67123T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_052946.1:g.67119_67123dup, NG_052946.1:g.67118_67123dup, NG_052946.1:g.67117_67123dup, NG_052946.1:g.67116_67123dup, NG_052946.1:g.67115_67123dup, NG_052946.1:g.67113_67123dup, NG_052946.1:g.67112_67123dup, NG_052946.1:g.67111_67123dup, NG_052946.1:g.67109_67123dup, NG_052946.1:g.67108_67123dup, NG_052946.1:g.67107_67123dup, NG_052946.1:g.67106_67123dup, NG_052946.1:g.67105_67123dup, NG_052946.1:g.67104_67123dup, NG_052946.1:g.67102_67123dup, NG_052946.1:g.67100_67123dup, NG_052946.1:g.67098_67123dup

    2.

    rs1491563385 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      15:90445151 (GRCh38)
      15:90988383 (GRCh37)
      Canonical SPDI:
      NC_000015.10:90445150:TA:
      Gene:
      IQGAP1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.001566/7 (ALFA)
      -=0.000546/1 (Korea1K)
      -=0.000814/14 (TOMMO)
      -=0.002342/15 (1000Genomes)
      -=0.002736/383 (GnomAD)
      HGVS:

      3.

      rs1491528021 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTTT,CTTTTCTTT,CTTTTCTTTTCTTT [Show Flanks]
        Chromosome:
        15:90397877 (GRCh38)
        15:90941110 (GRCh37)
        Canonical SPDI:
        NC_000015.10:90397877:TTT:TTTCTTT,NC_000015.10:90397877:TTT:TTTCTTTTCTTT,NC_000015.10:90397877:TTT:TTTCTTTTCTTTTCTTT
        Gene:
        IQGAP1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTCTTTTCTTT=0./0 (ALFA)
        TTTCTTTTC=0.00039/10 (TOMMO)
        HGVS:

        4.

        rs1491515474 has merged into rs11453785 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T,TTT,TTTT [Show Flanks]
          Chromosome:
          15:90395319 (GRCh38)
          15:90938551 (GRCh37)
          Canonical SPDI:
          NC_000015.10:90395312:TTTTTTTT:TTTTTT,NC_000015.10:90395312:TTTTTTTT:TTTTTTT,NC_000015.10:90395312:TTTTTTTT:TTTTTTTTT,NC_000015.10:90395312:TTTTTTTT:TTTTTTTTTT
          Gene:
          IQGAP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTT=0./0 (ALFA)
          T=0.25651/256 (GoNL)
          T=0.275/11 (GENOME_DK)
          T=0.27667/166 (NorthernSweden)
          T=0.41106/6889 (TOMMO)
          T=0.47216/865 (Korea1K)
          HGVS:

          5.

          rs1491507832 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->ATGGAAG [Show Flanks]
            Chromosome:
            15:90469561 (GRCh38)
            15:91012794 (GRCh37)
            Canonical SPDI:
            NC_000015.10:90469561::ATGGAAG
            Gene:
            IQGAP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            ATGGAAG=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1491452788 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              15:90475753 (GRCh38)
              15:91018985 (GRCh37)
              Canonical SPDI:
              NC_000015.10:90475752:CA:
              Gene:
              IQGAP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00025/3 (ALFA)
              HGVS:

              7.

              rs1491448130 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                15:90495383 (GRCh38)
                15:91038615 (GRCh37)
                Canonical SPDI:
                NC_000015.10:90495382:GA:
                Gene:
                IQGAP1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                -=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1491400631 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AG>- [Show Flanks]
                  Chromosome:
                  15:90495376 (GRCh38)
                  15:91038608 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:90495375:AG:
                  Gene:
                  IQGAP1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00059/7 (ALFA)
                  HGVS:

                  9.

                  rs1491344693 has merged into rs56810085 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    15:90394150 (GRCh38)
                    15:90937382 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90394135:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    IQGAP1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAAAA=0./0 (ALFA)
                    AAA=0.361/1808 (1000Genomes)
                    HGVS:
                    NC_000015.10:g.90394150_90394157del, NC_000015.10:g.90394151_90394157del, NC_000015.10:g.90394152_90394157del, NC_000015.10:g.90394153_90394157del, NC_000015.10:g.90394154_90394157del, NC_000015.10:g.90394155_90394157del, NC_000015.10:g.90394156_90394157del, NC_000015.10:g.90394157del, NC_000015.10:g.90394157dup, NC_000015.10:g.90394156_90394157dup, NC_000015.10:g.90394155_90394157dup, NC_000015.10:g.90394154_90394157dup, NC_000015.10:g.90394153_90394157dup, NC_000015.9:g.90937382_90937389del, NC_000015.9:g.90937383_90937389del, NC_000015.9:g.90937384_90937389del, NC_000015.9:g.90937385_90937389del, NC_000015.9:g.90937386_90937389del, NC_000015.9:g.90937387_90937389del, NC_000015.9:g.90937388_90937389del, NC_000015.9:g.90937389del, NC_000015.9:g.90937389dup, NC_000015.9:g.90937388_90937389dup, NC_000015.9:g.90937387_90937389dup, NC_000015.9:g.90937386_90937389dup, NC_000015.9:g.90937385_90937389dup, NG_052946.1:g.10910_10917del, NG_052946.1:g.10911_10917del, NG_052946.1:g.10912_10917del, NG_052946.1:g.10913_10917del, NG_052946.1:g.10914_10917del, NG_052946.1:g.10915_10917del, NG_052946.1:g.10916_10917del, NG_052946.1:g.10917del, NG_052946.1:g.10917dup, NG_052946.1:g.10916_10917dup, NG_052946.1:g.10915_10917dup, NG_052946.1:g.10914_10917dup, NG_052946.1:g.10913_10917dup

                    10.

                    rs1491329384 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->CT
                      Chromosome:
                      no mapping
                      Canonical SPDI:

                      11.

                      rs1491328073 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GAAAA [Show Flanks]
                        Chromosome:
                        15:90462001 (GRCh38)
                        15:91005234 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:90462001:AAAA:AAAAGAAAA
                        Gene:
                        IQGAP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AAAAGAAAA=0.00008/1 (ALFA)
                        HGVS:

                        12.

                        rs1491326993 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          15:90385281 (GRCh38)
                          15:90928514 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:90385281::G
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.00001/1 (GnomAD)
                          HGVS:

                          13.

                          rs1491326396 has merged into rs999179798 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            15:90480232 (GRCh38)
                            15:91023464 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90480220:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            IQGAP1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAAA=0./0 (ALFA)
                            HGVS:
                            NC_000015.10:g.90480232_90480241del, NC_000015.10:g.90480235_90480241del, NC_000015.10:g.90480236_90480241del, NC_000015.10:g.90480238_90480241del, NC_000015.10:g.90480239_90480241del, NC_000015.10:g.90480240_90480241del, NC_000015.10:g.90480241del, NC_000015.10:g.90480241dup, NC_000015.10:g.90480240_90480241dup, NC_000015.10:g.90480239_90480241dup, NC_000015.10:g.90480232_90480241dup, NC_000015.9:g.91023464_91023473del, NC_000015.9:g.91023467_91023473del, NC_000015.9:g.91023468_91023473del, NC_000015.9:g.91023470_91023473del, NC_000015.9:g.91023471_91023473del, NC_000015.9:g.91023472_91023473del, NC_000015.9:g.91023473del, NC_000015.9:g.91023473dup, NC_000015.9:g.91023472_91023473dup, NC_000015.9:g.91023471_91023473dup, NC_000015.9:g.91023464_91023473dup, NG_052946.1:g.96992_97001del, NG_052946.1:g.96995_97001del, NG_052946.1:g.96996_97001del, NG_052946.1:g.96998_97001del, NG_052946.1:g.96999_97001del, NG_052946.1:g.97000_97001del, NG_052946.1:g.97001del, NG_052946.1:g.97001dup, NG_052946.1:g.97000_97001dup, NG_052946.1:g.96999_97001dup, NG_052946.1:g.96992_97001dup

                            14.

                            rs1491296591 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              15:90422609 (GRCh38)
                              15:90965841 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:90422608:CA:
                              Gene:
                              IQGAP1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1491292240 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                AT>- [Show Flanks]
                                Chromosome:
                                15:90499960 (GRCh38)
                                15:91043192 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:90499959:AT:
                                Gene:
                                IQGAP1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                -=0.000008/1 (GnomAD_exomes)
                                -=0.000023/1 (ExAC)
                                HGVS:

                                16.

                                rs1491275691 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  15:90418214 (GRCh38)
                                  15:90961446 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:90418213:CT:
                                  Gene:
                                  IQGAP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1491270245 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    15:90486558 (GRCh38)
                                    15:91029791 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:90486558::A
                                    Gene:
                                    IQGAP1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.013898/89 (1000Genomes)
                                    A=0.017002/1982 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491252925 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      15:90384100 (GRCh38)
                                      15:90927332 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:90384099:CA:
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0.00042/5 (ALFA)
                                      HGVS:

                                      19.

                                      rs1491247479 has merged into rs886294695 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TT>-,T,TTT,TTTTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        15:90397886 (GRCh38)
                                        15:90941118 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:90397876:TTTTTTTTTTT:TTTTTTTTT,NC_000015.10:90397876:TTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:90397876:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:90397876:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        IQGAP1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTT=0./0 (ALFA)
                                        -=0.0038/2 (NorthernSweden)
                                        HGVS:

                                        20.

                                        rs1491244913 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          15:90390303 (GRCh38)
                                          15:90933536 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:90390303:A:AA
                                          Gene:
                                          IQGAP1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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