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Items: 1 to 20 of 1000

1.

rs1491583978 has merged into rs547207365 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    21:41404880 (GRCh38)
    21:42776807 (GRCh37)
    Canonical SPDI:
    NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41404873:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    MX2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAA=0./0 (ALFA)
    HGVS:
    NC_000021.9:g.41404880_41404891del, NC_000021.9:g.41404881_41404891del, NC_000021.9:g.41404882_41404891del, NC_000021.9:g.41404883_41404891del, NC_000021.9:g.41404884_41404891del, NC_000021.9:g.41404885_41404891del, NC_000021.9:g.41404886_41404891del, NC_000021.9:g.41404888_41404891del, NC_000021.9:g.41404889_41404891del, NC_000021.9:g.41404890_41404891del, NC_000021.9:g.41404891del, NC_000021.9:g.41404891dup, NC_000021.9:g.41404890_41404891dup, NC_000021.9:g.41404889_41404891dup, NC_000021.9:g.41404888_41404891dup, NC_000021.9:g.41404887_41404891dup, NC_000021.9:g.41404885_41404891dup, NC_000021.9:g.41404884_41404891dup, NC_000021.9:g.41404882_41404891dup, NC_000021.9:g.41404881_41404891dup, NC_000021.9:g.41404879_41404891dup, NC_000021.9:g.41404878_41404891dup, NC_000021.9:g.41404877_41404891dup, NC_000021.9:g.41404876_41404891dup, NC_000021.9:g.41404875_41404891dup, NC_000021.9:g.41404874_41404891dup, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404891_41404892insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41404874_41404891A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42776807_42776818del, NC_000021.8:g.42776808_42776818del, NC_000021.8:g.42776809_42776818del, NC_000021.8:g.42776810_42776818del, NC_000021.8:g.42776811_42776818del, NC_000021.8:g.42776812_42776818del, NC_000021.8:g.42776813_42776818del, NC_000021.8:g.42776815_42776818del, NC_000021.8:g.42776816_42776818del, NC_000021.8:g.42776817_42776818del, NC_000021.8:g.42776818del, NC_000021.8:g.42776818dup, NC_000021.8:g.42776817_42776818dup, NC_000021.8:g.42776816_42776818dup, NC_000021.8:g.42776815_42776818dup, NC_000021.8:g.42776814_42776818dup, NC_000021.8:g.42776812_42776818dup, NC_000021.8:g.42776811_42776818dup, NC_000021.8:g.42776809_42776818dup, NC_000021.8:g.42776808_42776818dup, NC_000021.8:g.42776806_42776818dup, NC_000021.8:g.42776805_42776818dup, NC_000021.8:g.42776804_42776818dup, NC_000021.8:g.42776803_42776818dup, NC_000021.8:g.42776802_42776818dup, NC_000021.8:g.42776801_42776818dup, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776818_42776819insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42776801_42776818A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
    2.

    rs1491437645 has merged into rs373955778 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      21:41393124 (GRCh38)
      21:42765051 (GRCh37)
      Canonical SPDI:
      NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:41393110:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      MX2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000021.9:g.41393124_41393131del, NC_000021.9:g.41393125_41393131del, NC_000021.9:g.41393126_41393131del, NC_000021.9:g.41393127_41393131del, NC_000021.9:g.41393129_41393131del, NC_000021.9:g.41393130_41393131del, NC_000021.9:g.41393131del, NC_000021.9:g.41393131dup, NC_000021.9:g.41393130_41393131dup, NC_000021.9:g.41393129_41393131dup, NC_000021.9:g.41393128_41393131dup, NC_000021.9:g.41393126_41393131dup, NC_000021.9:g.41393125_41393131dup, NC_000021.9:g.41393124_41393131dup, NC_000021.9:g.41393123_41393131dup, NC_000021.9:g.41393122_41393131dup, NC_000021.9:g.41393121_41393131dup, NC_000021.9:g.41393120_41393131dup, NC_000021.9:g.41393119_41393131dup, NC_000021.9:g.41393118_41393131dup, NC_000021.9:g.41393117_41393131dup, NC_000021.9:g.41393115_41393131dup, NC_000021.9:g.41393114_41393131dup, NC_000021.9:g.41393112_41393131dup, NC_000021.9:g.41393111_41393131dup, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393131_41393132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.41393111_41393131A[29]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[26]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.9:g.41393111_41393131A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765051_42765058del, NC_000021.8:g.42765052_42765058del, NC_000021.8:g.42765053_42765058del, NC_000021.8:g.42765054_42765058del, NC_000021.8:g.42765056_42765058del, NC_000021.8:g.42765057_42765058del, NC_000021.8:g.42765058del, NC_000021.8:g.42765058dup, NC_000021.8:g.42765057_42765058dup, NC_000021.8:g.42765056_42765058dup, NC_000021.8:g.42765055_42765058dup, NC_000021.8:g.42765053_42765058dup, NC_000021.8:g.42765052_42765058dup, NC_000021.8:g.42765051_42765058dup, NC_000021.8:g.42765050_42765058dup, NC_000021.8:g.42765049_42765058dup, NC_000021.8:g.42765048_42765058dup, NC_000021.8:g.42765047_42765058dup, NC_000021.8:g.42765046_42765058dup, NC_000021.8:g.42765045_42765058dup, NC_000021.8:g.42765044_42765058dup, NC_000021.8:g.42765042_42765058dup, NC_000021.8:g.42765041_42765058dup, NC_000021.8:g.42765039_42765058dup, NC_000021.8:g.42765038_42765058dup, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765058_42765059insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.42765038_42765058A[29]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[26]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000021.8:g.42765038_42765058A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
      3.

      rs1491431013 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        21:41404873 (GRCh38)
        21:42776800 (GRCh37)
        Canonical SPDI:
        NC_000021.9:41404872:CA:
        Gene:
        MX2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1491281878 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          21:41393110 (GRCh38)
          21:42765037 (GRCh37)
          Canonical SPDI:
          NC_000021.9:41393109:CA:
          Gene:
          MX2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00042/5 (ALFA)
          -=0.00041/10 (TOMMO)
          HGVS:
          5.

          rs1491232876 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GC>- [Show Flanks]
            Chromosome:
            21:41403252 (GRCh38)
            21:42775179 (GRCh37)
            Canonical SPDI:
            NC_000021.9:41403251:GC:
            Gene:
            MX2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.00002/1 (ExAC)
            -=0.00002/1 (GnomAD)
            -=0.00004/1 (TOMMO)
            HGVS:
            6.

            rs1490976399 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              21:41373523 (GRCh38)
              21:42745450 (GRCh37)
              Canonical SPDI:
              NC_000021.9:41373522:G:A,NC_000021.9:41373522:G:T
              Gene:
              MX2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490930154 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                21:41374385 (GRCh38)
                21:42746312 (GRCh37)
                Canonical SPDI:
                NC_000021.9:41374384:C:T
                Gene:
                MX2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490887091 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  21:41374631 (GRCh38)
                  21:42746558 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:41374630:G:T
                  Gene:
                  MX2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000224/1 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1490716229 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    21:41380260 (GRCh38)
                    21:42752187 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:41380259:C:G,NC_000021.9:41380259:C:T
                    Gene:
                    MX2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490655287 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      21:41389069 (GRCh38)
                      21:42760996 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:41389068:A:C,NC_000021.9:41389068:A:G
                      Gene:
                      MX2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490536744 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        21:41402149 (GRCh38)
                        21:42774076 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:41402148:C:G
                        Gene:
                        MX2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490302450 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          21:41407930 (GRCh38)
                          21:42779857 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:41407924:TCTCTCT:TCTCT
                          Gene:
                          MX2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TCTCT=0./0 (ALFA)
                          -=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1490299572 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            21:41394008 (GRCh38)
                            21:42765935 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:41394007:T:C
                            Gene:
                            MX2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490286625 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              21:41405684 (GRCh38)
                              21:42777611 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:41405683:C:T
                              Gene:
                              MX2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000019/5 (TOPMED)
                              T=0.000177/3 (TOMMO)
                              T=0.001027/3 (KOREAN)
                              HGVS:
                              15.

                              rs1490232184 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                21:41365907 (GRCh38)
                                21:42737834 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:41365906:C:G
                                Gene:
                                MX2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490102811 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  21:41386726 (GRCh38)
                                  21:42758653 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:41386725:C:T
                                  Gene:
                                  MX2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490069486 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    21:41400551 (GRCh38)
                                    21:42772478 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:41400550:T:C
                                    Gene:
                                    MX2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489922619 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      21:41406664 (GRCh38)
                                      21:42778591 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:41406663:A:G
                                      Gene:
                                      MX2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489776702 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        21:41370359 (GRCh38)
                                        21:42742286 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:41370358:C:T
                                        Gene:
                                        MX2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000021/3 (GnomAD)
                                        T=0.000064/17 (TOPMED)
                                        T=0.000071/1 (TOMMO)
                                        T=0.000342/1 (KOREAN)
                                        T=0.001092/2 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1489682369 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          A>- [Show Flanks]
                                          Chromosome:
                                          21:41378549 (GRCh38)
                                          21:42750476 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:41378548:AA:A
                                          Gene:
                                          MX2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          -=0.000029/4 (GnomAD)
                                          -=0.000034/9 (TOPMED)
                                          HGVS:

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