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Items: 1 to 20 of 5953

1.

rs1491524438 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AGAAGAGGCTGTCAGGG [Show Flanks]
    Chromosome:
    16:8859342 (GRCh38)
    16:8953200 (GRCh37)
    Canonical SPDI:
    NC_000016.10:8859342:GAGAAGAGGCTGTCAGGG:GAGAAGAGGCTGTCAGGGAGAAGAGGCTGTCAGGG
    Gene:
    CARHSP1 (Varview), LOC100130283 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GAGAAGAGGCTGTCAGGGAGAAGAGGCTGTCAGGG=0./0 (ALFA)
    GAGAAGAGGCTGTCAGG=0.000004/1 (GnomAD_exomes)
    GAGAAGAGGCTGTCAGG=0.000004/1 (TOPMED)
    HGVS:

    2.

    rs1491522629 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GCTTTTTGTTTTT,GTTGTTTTT,GTTTTT,GTTTTTGTTTTT,GTTTTTTGTTTTT,GTTTTTTGTTTTTTGTTTTT [Show Flanks]
      Chromosome:
      16:8857264 (GRCh38)
      16:8951122 (GRCh37)
      Canonical SPDI:
      NC_000016.10:8857264:TTTTT:TTTTTGCTTTTTGTTTTT,NC_000016.10:8857264:TTTTT:TTTTTGTTGTTTTT,NC_000016.10:8857264:TTTTT:TTTTTGTTTTT,NC_000016.10:8857264:TTTTT:TTTTTGTTTTTGTTTTT,NC_000016.10:8857264:TTTTT:TTTTTGTTTTTTGTTTTT,NC_000016.10:8857264:TTTTT:TTTTTGTTTTTTGTTTTTTGTTTTT
      Gene:
      CARHSP1 (Varview), LOC100130283 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTGTTTTTTGTTTTT=0./0 (ALFA)
      HGVS:

      3.

      rs1491406077 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        16:8857756 (GRCh38)
        16:8951613 (GRCh37)
        Canonical SPDI:
        NC_000016.10:8857755:AT:
        Gene:
        CARHSP1 (Varview), LOC100130283 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:

        4.

        rs1491390816 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
          Chromosome:
          16:8857756 (GRCh38)
          16:8951614 (GRCh37)
          Canonical SPDI:
          NC_000016.10:8857756:TT:TTT,NC_000016.10:8857756:TT:TTTT,NC_000016.10:8857756:TT:TTTTT,NC_000016.10:8857756:TT:TTTTTT,NC_000016.10:8857756:TT:TTTTTTT,NC_000016.10:8857756:TT:TTTTTTTT,NC_000016.10:8857756:TT:TTTTTTTTT,NC_000016.10:8857756:TT:TTTTTTTTTTT
          Gene:
          CARHSP1 (Varview), LOC100130283 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTT=0./0 (ALFA)
          TTT=0.00014/2 (TOMMO)
          TTT=0.00074/3 (Estonian)
          TTT=0.00656/42 (1000Genomes)
          HGVS:

          5.

          rs1491334293 has merged into rs71155409 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            16:8857769 (GRCh38)
            16:8951626 (GRCh37)
            Canonical SPDI:
            NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857759:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            CARHSP1 (Varview), LOC100130283 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000016.10:g.8857769_8857778del, NC_000016.10:g.8857770_8857778del, NC_000016.10:g.8857771_8857778del, NC_000016.10:g.8857772_8857778del, NC_000016.10:g.8857773_8857778del, NC_000016.10:g.8857774_8857778del, NC_000016.10:g.8857775_8857778del, NC_000016.10:g.8857776_8857778del, NC_000016.10:g.8857777_8857778del, NC_000016.10:g.8857778del, NC_000016.10:g.8857778dup, NC_000016.10:g.8857777_8857778dup, NC_000016.10:g.8857776_8857778dup, NC_000016.10:g.8857775_8857778dup, NC_000016.10:g.8857774_8857778dup, NC_000016.10:g.8857773_8857778dup, NC_000016.10:g.8857772_8857778dup, NC_000016.10:g.8857771_8857778dup, NC_000016.9:g.8951626_8951635del, NC_000016.9:g.8951627_8951635del, NC_000016.9:g.8951628_8951635del, NC_000016.9:g.8951629_8951635del, NC_000016.9:g.8951630_8951635del, NC_000016.9:g.8951631_8951635del, NC_000016.9:g.8951632_8951635del, NC_000016.9:g.8951633_8951635del, NC_000016.9:g.8951634_8951635del, NC_000016.9:g.8951635del, NC_000016.9:g.8951635dup, NC_000016.9:g.8951634_8951635dup, NC_000016.9:g.8951633_8951635dup, NC_000016.9:g.8951632_8951635dup, NC_000016.9:g.8951631_8951635dup, NC_000016.9:g.8951630_8951635dup, NC_000016.9:g.8951629_8951635dup, NC_000016.9:g.8951628_8951635dup

            6.

            rs1491310218 has merged into rs756390920 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              16:8857271 (GRCh38)
              16:8951128 (GRCh37)
              Canonical SPDI:
              NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:8857263:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              CARHSP1 (Varview), LOC100130283 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000016.10:g.8857271_8857299del, NC_000016.10:g.8857272_8857299del, NC_000016.10:g.8857273_8857299del, NC_000016.10:g.8857274_8857299del, NC_000016.10:g.8857275_8857299del, NC_000016.10:g.8857276_8857299del, NC_000016.10:g.8857277_8857299del, NC_000016.10:g.8857278_8857299del, NC_000016.10:g.8857279_8857299del, NC_000016.10:g.8857280_8857299del, NC_000016.10:g.8857281_8857299del, NC_000016.10:g.8857282_8857299del, NC_000016.10:g.8857283_8857299del, NC_000016.10:g.8857284_8857299del, NC_000016.10:g.8857285_8857299del, NC_000016.10:g.8857286_8857299del, NC_000016.10:g.8857287_8857299del, NC_000016.10:g.8857288_8857299del, NC_000016.10:g.8857289_8857299del, NC_000016.10:g.8857290_8857299del, NC_000016.10:g.8857291_8857299del, NC_000016.10:g.8857292_8857299del, NC_000016.10:g.8857293_8857299del, NC_000016.10:g.8857294_8857299del, NC_000016.10:g.8857295_8857299del, NC_000016.10:g.8857296_8857299del, NC_000016.10:g.8857297_8857299del, NC_000016.10:g.8857298_8857299del, NC_000016.10:g.8857299del, NC_000016.10:g.8857299dup, NC_000016.10:g.8857298_8857299dup, NC_000016.10:g.8857297_8857299dup, NC_000016.10:g.8857296_8857299dup, NC_000016.10:g.8857295_8857299dup, NC_000016.10:g.8857294_8857299dup, NC_000016.10:g.8857293_8857299dup, NC_000016.10:g.8857292_8857299dup, NC_000016.10:g.8857291_8857299dup, NC_000016.10:g.8857290_8857299dup, NC_000016.10:g.8857289_8857299dup, NC_000016.10:g.8857288_8857299dup, NC_000016.10:g.8857287_8857299dup, NC_000016.10:g.8857286_8857299dup, NC_000016.10:g.8857285_8857299dup, NC_000016.10:g.8857284_8857299dup, NC_000016.10:g.8857283_8857299dup, NC_000016.10:g.8857282_8857299dup, NC_000016.10:g.8857281_8857299dup, NC_000016.10:g.8857280_8857299dup, NC_000016.10:g.8857279_8857299dup, NC_000016.10:g.8857278_8857299dup, NC_000016.10:g.8857277_8857299dup, NC_000016.10:g.8857276_8857299dup, NC_000016.10:g.8857275_8857299dup, NC_000016.10:g.8857274_8857299dup, NC_000016.10:g.8857273_8857299dup, NC_000016.10:g.8857272_8857299dup, NC_000016.10:g.8857268_8857299dup, NC_000016.10:g.8857299_8857300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.8857299_8857300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.8857299_8857300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.8951128_8951156del, NC_000016.9:g.8951129_8951156del, NC_000016.9:g.8951130_8951156del, NC_000016.9:g.8951131_8951156del, NC_000016.9:g.8951132_8951156del, NC_000016.9:g.8951133_8951156del, NC_000016.9:g.8951134_8951156del, NC_000016.9:g.8951135_8951156del, NC_000016.9:g.8951136_8951156del, NC_000016.9:g.8951137_8951156del, NC_000016.9:g.8951138_8951156del, NC_000016.9:g.8951139_8951156del, NC_000016.9:g.8951140_8951156del, NC_000016.9:g.8951141_8951156del, NC_000016.9:g.8951142_8951156del, NC_000016.9:g.8951143_8951156del, NC_000016.9:g.8951144_8951156del, NC_000016.9:g.8951145_8951156del, NC_000016.9:g.8951146_8951156del, NC_000016.9:g.8951147_8951156del, NC_000016.9:g.8951148_8951156del, NC_000016.9:g.8951149_8951156del, NC_000016.9:g.8951150_8951156del, NC_000016.9:g.8951151_8951156del, NC_000016.9:g.8951152_8951156del, NC_000016.9:g.8951153_8951156del, NC_000016.9:g.8951154_8951156del, NC_000016.9:g.8951155_8951156del, NC_000016.9:g.8951156del, NC_000016.9:g.8951156dup, NC_000016.9:g.8951155_8951156dup, NC_000016.9:g.8951154_8951156dup, NC_000016.9:g.8951153_8951156dup, NC_000016.9:g.8951152_8951156dup, NC_000016.9:g.8951151_8951156dup, NC_000016.9:g.8951150_8951156dup, NC_000016.9:g.8951149_8951156dup, NC_000016.9:g.8951148_8951156dup, NC_000016.9:g.8951147_8951156dup, NC_000016.9:g.8951146_8951156dup, NC_000016.9:g.8951145_8951156dup, NC_000016.9:g.8951144_8951156dup, NC_000016.9:g.8951143_8951156dup, NC_000016.9:g.8951142_8951156dup, NC_000016.9:g.8951141_8951156dup, NC_000016.9:g.8951140_8951156dup, NC_000016.9:g.8951139_8951156dup, NC_000016.9:g.8951138_8951156dup, NC_000016.9:g.8951137_8951156dup, NC_000016.9:g.8951136_8951156dup, NC_000016.9:g.8951135_8951156dup, NC_000016.9:g.8951134_8951156dup, NC_000016.9:g.8951133_8951156dup, NC_000016.9:g.8951132_8951156dup, NC_000016.9:g.8951131_8951156dup, NC_000016.9:g.8951130_8951156dup, NC_000016.9:g.8951129_8951156dup, NC_000016.9:g.8951125_8951156dup, NC_000016.9:g.8951156_8951157insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.8951156_8951157insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.8951156_8951157insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

              7.

              rs1491235318 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                16:8851759 (GRCh38)
                16:8945616 (GRCh37)
                Canonical SPDI:
                NC_000016.10:8851758:CA:
                Gene:
                LOC100130283 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by cluster
                HGVS:

                8.

                rs1491007545 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  16:8856640 (GRCh38)
                  16:8950498 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:8856640:GGGG:GGGGG
                  Gene:
                  CARHSP1 (Varview), LOC100130283 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GGGGG=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490864807 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:8852280 (GRCh38)
                    16:8946137 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:8852279:C:T
                    Gene:
                    LOC100130283 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490797581 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      16:8857872 (GRCh38)
                      16:8951729 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:8857871:C:A,NC_000016.10:8857871:C:G
                      Gene:
                      CARHSP1 (Varview), LOC100130283 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      A=0.000035/1 (TOMMO)
                      HGVS:

                      11.

                      rs1490745206 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:8855824 (GRCh38)
                        16:8949681 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:8855823:C:T
                        Gene:
                        CARHSP1 (Varview), LOC100130283 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:

                        12.

                        rs1490635067 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          16:8858297 (GRCh38)
                          16:8952154 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:8858296:G:A,NC_000016.10:8858296:G:T
                          Gene:
                          CARHSP1 (Varview), LOC100130283 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          A=0.000106/2 (TOMMO)
                          HGVS:

                          13.

                          rs1490465987 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:8847754 (GRCh38)
                            16:8941611 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:8847753:C:T
                            Gene:
                            PMM2 (Varview), LOC100130283 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1490373558 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              G>- [Show Flanks]
                              Chromosome:
                              16:8852006 (GRCh38)
                              16:8945863 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:8852005:G:
                              Gene:
                              LOC100130283 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.00129/36 (TOMMO)
                              HGVS:

                              15.

                              rs1490363517 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                16:8850462 (GRCh38)
                                16:8944319 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:8850461:C:A
                                Gene:
                                LOC100130283 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1490351085 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GA>- [Show Flanks]
                                  Chromosome:
                                  16:8858355 (GRCh38)
                                  16:8952212 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:8858351:AGAGA:AGA
                                  Gene:
                                  CARHSP1 (Varview), LOC100130283 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,stop_gained
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  AGA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.8858353GA[1], NC_000016.9:g.8952210GA[1], NM_014316.4:c.278_279del, NM_014316.3:c.278_279del, XM_011522444.3:c.278_279del, XM_011522444.2:c.278_279del, XM_011522444.1:c.278_279del, NM_001042476.2:c.278_279del, NM_001278261.2:c.278_279del, NM_001278261.1:c.278_279del, NM_001278262.2:c.278_279del, NM_001278262.1:c.278_279del, NM_001278264.2:c.278_279del, NM_001278264.1:c.278_279del, NM_001278260.2:c.278_279del, NM_001278260.1:c.278_279del, NM_001278265.2:c.278_279del, NM_001278265.1:c.278_279del, NM_001278266.2:c.278_279del, NM_001278266.1:c.278_279del, XM_047433884.1:c.278_279del, XM_047433885.1:c.278_279del, XM_047433886.1:c.278_279del, NM_001278263.1:c.278_279del, NP_055131.2:p.Ile92_Ser93insTer, XP_011520746.1:p.Ile92_Ser93insTer, NP_001035941.1:p.Ile92_Ser93insTer, NP_001265190.1:p.Ile92_Ser93insTer, NP_001265191.1:p.Ile92_Ser93insTer, NP_001265193.1:p.Ile92_Ser93insTer, NP_001265189.1:p.Ile92_Ser93insTer, NP_001265194.1:p.Ile92_Ser93insTer, NP_001265195.1:p.Ile92_Ser93insTer, XP_047289840.1:p.Ile92_Ser93insTer, XP_047289841.1:p.Ile92_Ser93insTer, XP_047289842.1:p.Ile92_Ser93insTer, NP_001265192.1:p.Ile92_Ser93insTer

                                  17.

                                  rs1490320957 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:8856473 (GRCh38)
                                    16:8950330 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:8856472:G:A
                                    Gene:
                                    CARHSP1 (Varview), LOC100130283 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000264/4 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000029/4 (GnomAD)
                                    A=0.000893/4 (Estonian)
                                    HGVS:

                                    18.

                                    rs1490308181 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:8848662 (GRCh38)
                                      16:8942519 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:8848661:T:C
                                      Gene:
                                      PMM2 (Varview), LOC100130283 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490306511 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        16:8857472 (GRCh38)
                                        16:8951329 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:8857471:T:C,NC_000016.10:8857471:T:G
                                        Gene:
                                        CARHSP1 (Varview), LOC100130283 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1490302292 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:8855184 (GRCh38)
                                          16:8949041 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:8855183:C:T
                                          Gene:
                                          CARHSP1 (Varview), LOC100130283 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          HGVS:
                                          NC_000016.10:g.8855184C>T, NC_000016.9:g.8949041C>T, NM_014316.4:c.424G>A, NM_014316.3:c.424G>A, XM_011522444.3:c.424G>A, XM_011522444.2:c.424G>A, XM_011522444.1:c.424G>A, NM_001042476.2:c.424G>A, NM_001278261.2:c.424G>A, NM_001278261.1:c.424G>A, NM_001278262.2:c.424G>A, NM_001278262.1:c.424G>A, NM_001278264.2:c.424G>A, NM_001278264.1:c.424G>A, NM_001278260.2:c.424G>A, NM_001278260.1:c.424G>A, NM_001278265.2:c.424G>A, NM_001278265.1:c.424G>A, NM_001278266.2:c.424G>A, NM_001278266.1:c.424G>A, XM_047433884.1:c.424G>A, XM_047433885.1:c.424G>A, XM_047433886.1:c.424G>A, NM_001278263.1:c.424G>A, NR_147908.1:n.601C>T, NP_055131.2:p.Gly142Arg, XP_011520746.1:p.Gly142Arg, NP_001035941.1:p.Gly142Arg, NP_001265190.1:p.Gly142Arg, NP_001265191.1:p.Gly142Arg, NP_001265193.1:p.Gly142Arg, NP_001265189.1:p.Gly142Arg, NP_001265194.1:p.Gly142Arg, NP_001265195.1:p.Gly142Arg, XP_047289840.1:p.Gly142Arg, XP_047289841.1:p.Gly142Arg, XP_047289842.1:p.Gly142Arg, NP_001265192.1:p.Gly142Arg

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