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1.

rs1491370472 has merged into rs60642403 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    12:113072708 (GRCh38)
    12:113510513 (GRCh37)
    Canonical SPDI:
    NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:113072696:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    DTX1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000012.12:g.113072708_113072721del, NC_000012.12:g.113072709_113072721del, NC_000012.12:g.113072710_113072721del, NC_000012.12:g.113072711_113072721del, NC_000012.12:g.113072712_113072721del, NC_000012.12:g.113072713_113072721del, NC_000012.12:g.113072714_113072721del, NC_000012.12:g.113072715_113072721del, NC_000012.12:g.113072716_113072721del, NC_000012.12:g.113072717_113072721del, NC_000012.12:g.113072718_113072721del, NC_000012.12:g.113072719_113072721del, NC_000012.12:g.113072720_113072721del, NC_000012.12:g.113072721del, NC_000012.12:g.113072721dup, NC_000012.12:g.113072720_113072721dup, NC_000012.12:g.113072719_113072721dup, NC_000012.12:g.113072718_113072721dup, NC_000012.12:g.113072717_113072721dup, NC_000012.12:g.113072716_113072721dup, NC_000012.12:g.113072715_113072721dup, NC_000012.12:g.113072714_113072721dup, NC_000012.12:g.113072713_113072721dup, NC_000012.12:g.113072712_113072721dup, NC_000012.12:g.113072711_113072721dup, NC_000012.12:g.113072710_113072721dup, NC_000012.12:g.113072708_113072721dup, NC_000012.12:g.113072706_113072721dup, NC_000012.12:g.113072704_113072721dup, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.113072721_113072722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510513_113510526del, NC_000012.11:g.113510514_113510526del, NC_000012.11:g.113510515_113510526del, NC_000012.11:g.113510516_113510526del, NC_000012.11:g.113510517_113510526del, NC_000012.11:g.113510518_113510526del, NC_000012.11:g.113510519_113510526del, NC_000012.11:g.113510520_113510526del, NC_000012.11:g.113510521_113510526del, NC_000012.11:g.113510522_113510526del, NC_000012.11:g.113510523_113510526del, NC_000012.11:g.113510524_113510526del, NC_000012.11:g.113510525_113510526del, NC_000012.11:g.113510526del, NC_000012.11:g.113510526dup, NC_000012.11:g.113510525_113510526dup, NC_000012.11:g.113510524_113510526dup, NC_000012.11:g.113510523_113510526dup, NC_000012.11:g.113510522_113510526dup, NC_000012.11:g.113510521_113510526dup, NC_000012.11:g.113510520_113510526dup, NC_000012.11:g.113510519_113510526dup, NC_000012.11:g.113510518_113510526dup, NC_000012.11:g.113510517_113510526dup, NC_000012.11:g.113510516_113510526dup, NC_000012.11:g.113510515_113510526dup, NC_000012.11:g.113510513_113510526dup, NC_000012.11:g.113510511_113510526dup, NC_000012.11:g.113510509_113510526dup, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.113510526_113510527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491264251 has merged into rs56194115 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      12:113096446 (GRCh38)
      12:113534251 (GRCh37)
      Canonical SPDI:
      NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113096439:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      DTX1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAA=0./0 (ALFA)
      HGVS:
      NC_000012.12:g.113096446_113096462del, NC_000012.12:g.113096451_113096462del, NC_000012.12:g.113096452_113096462del, NC_000012.12:g.113096453_113096462del, NC_000012.12:g.113096454_113096462del, NC_000012.12:g.113096455_113096462del, NC_000012.12:g.113096456_113096462del, NC_000012.12:g.113096457_113096462del, NC_000012.12:g.113096458_113096462del, NC_000012.12:g.113096459_113096462del, NC_000012.12:g.113096460_113096462del, NC_000012.12:g.113096461_113096462del, NC_000012.12:g.113096462del, NC_000012.12:g.113096462dup, NC_000012.12:g.113096461_113096462dup, NC_000012.12:g.113096460_113096462dup, NC_000012.12:g.113096459_113096462dup, NC_000012.12:g.113096458_113096462dup, NC_000012.12:g.113096457_113096462dup, NC_000012.12:g.113096456_113096462dup, NC_000012.12:g.113096455_113096462dup, NC_000012.12:g.113096453_113096462dup, NC_000012.12:g.113096451_113096462dup, NC_000012.12:g.113096450_113096462dup, NC_000012.12:g.113096448_113096462dup, NC_000012.12:g.113096447_113096462dup, NC_000012.12:g.113096446_113096462dup, NC_000012.12:g.113096445_113096462dup, NC_000012.12:g.113096444_113096462dup, NC_000012.12:g.113096443_113096462dup, NC_000012.12:g.113096442_113096462dup, NC_000012.12:g.113096441_113096462dup, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.113096462_113096463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534251_113534267del, NC_000012.11:g.113534256_113534267del, NC_000012.11:g.113534257_113534267del, NC_000012.11:g.113534258_113534267del, NC_000012.11:g.113534259_113534267del, NC_000012.11:g.113534260_113534267del, NC_000012.11:g.113534261_113534267del, NC_000012.11:g.113534262_113534267del, NC_000012.11:g.113534263_113534267del, NC_000012.11:g.113534264_113534267del, NC_000012.11:g.113534265_113534267del, NC_000012.11:g.113534266_113534267del, NC_000012.11:g.113534267del, NC_000012.11:g.113534267dup, NC_000012.11:g.113534266_113534267dup, NC_000012.11:g.113534265_113534267dup, NC_000012.11:g.113534264_113534267dup, NC_000012.11:g.113534263_113534267dup, NC_000012.11:g.113534262_113534267dup, NC_000012.11:g.113534261_113534267dup, NC_000012.11:g.113534260_113534267dup, NC_000012.11:g.113534258_113534267dup, NC_000012.11:g.113534256_113534267dup, NC_000012.11:g.113534255_113534267dup, NC_000012.11:g.113534253_113534267dup, NC_000012.11:g.113534252_113534267dup, NC_000012.11:g.113534251_113534267dup, NC_000012.11:g.113534250_113534267dup, NC_000012.11:g.113534249_113534267dup, NC_000012.11:g.113534248_113534267dup, NC_000012.11:g.113534247_113534267dup, NC_000012.11:g.113534246_113534267dup, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.113534267_113534268insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491231303 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->CTT
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491101020 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          12:113096439 (GRCh38)
          12:113534244 (GRCh37)
          Canonical SPDI:
          NC_000012.12:113096438:CA:
          Gene:
          DTX1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00008/1 (ALFA)
          HGVS:
          5.

          rs1491030273 has merged into rs11372823 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
            Chromosome:
            12:113092338 (GRCh38)
            12:113530143 (GRCh37)
            Canonical SPDI:
            NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113092326:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
            Gene:
            DTX1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAA=0./0 (ALFA)
            -=0.347/1738 (1000Genomes)
            HGVS:
            6.

            rs1491014372 has merged into rs35457626 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
              Chromosome:
              12:113086274 (GRCh38)
              12:113524079 (GRCh37)
              Canonical SPDI:
              NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:113086261:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
              Gene:
              DTX1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAA=0./0 (ALFA)
              A=0.3516/1761 (1000Genomes)
              HGVS:
              7.

              rs1490977791 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                T>- [Show Flanks]
                Chromosome:
                12:113080489 (GRCh38)
                12:113518294 (GRCh37)
                Canonical SPDI:
                NC_000012.12:113080488:T:
                Gene:
                DTX1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000011/3 (TOPMED)
                -=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1490882855 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CAAAAAA>- [Show Flanks]
                  Chromosome:
                  12:113096439 (GRCh38)
                  12:113534244 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:113096438:CAAAAAA:
                  Gene:
                  DTX1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490827691 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TG>- [Show Flanks]
                    Chromosome:
                    12:113085102 (GRCh38)
                    12:113522907 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:113085100:GTG:G
                    Gene:
                    DTX1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.0002/1 (ALFA)
                    -=0.0002/1 (Estonian)
                    HGVS:
                    10.

                    rs1490785649 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:113073157 (GRCh38)
                      12:113510962 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:113073156:G:A
                      Gene:
                      DTX1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490745504 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        12:113064488 (GRCh38)
                        12:113502293 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:113064487:C:T
                        Gene:
                        DTX1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490485764 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          12:113080005 (GRCh38)
                          12:113517810 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:113080004:A:G
                          Gene:
                          DTX1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000014/2 (GnomAD)
                          G=0.000038/10 (TOPMED)
                          HGVS:
                          13.

                          rs1490440544 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            12:113081130 (GRCh38)
                            12:113518935 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:113081129:G:T
                            Gene:
                            DTX1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490402637 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              12:113056737 (GRCh38)
                              12:113494542 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:113056736:A:C,NC_000012.12:113056736:A:G
                              Gene:
                              DTX1 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490197267 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:113075718 (GRCh38)
                                12:113513523 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:113075717:G:A
                                Gene:
                                DTX1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1490156130 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  12:113080990 (GRCh38)
                                  12:113518795 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:113080989:T:A
                                  Gene:
                                  DTX1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489924809 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:113065038 (GRCh38)
                                    12:113502843 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:113065037:A:G
                                    Gene:
                                    DTX1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489805460 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CCGCGAGCGGCTCGGGGACG>- [Show Flanks]
                                      Chromosome:
                                      12:113056994 (GRCh38)
                                      12:113494799 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:113056993:CCGCGAGCGGCTCGGGGACG:
                                      Gene:
                                      DTX1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000023/6 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489764010 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        12:113057664 (GRCh38)
                                        12:113495469 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:113057663:G:A,NC_000012.12:113057663:G:C
                                        Gene:
                                        DTX1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        C=0.000156/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1489724153 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:113087993 (GRCh38)
                                          12:113525798 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:113087992:G:A
                                          Gene:
                                          DTX1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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