U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491489468 has merged into rs1163191238 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,TTT,TTTT,TTTTTT [Show Flanks]
    Chromosome:
    11:44119124 (GRCh38)
    11:44140674 (GRCh37)
    Canonical SPDI:
    NC_000011.10:44119122:TTT:T,NC_000011.10:44119122:TTT:TTTT,NC_000011.10:44119122:TTT:TTTTT,NC_000011.10:44119122:TTT:TTTTTTT
    Gene:
    EXT2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTT=0./0 (ALFA)
    -=0.11637/1844 (TOMMO)
    HGVS:

    2.

    rs1491488096 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      11:44243618 (GRCh38)
      11:44265168 (GRCh37)
      Canonical SPDI:
      NC_000011.10:44243617:CT:
      Gene:
      EXT2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1491454615 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CT [Show Flanks]
        Chromosome:
        11:44135391 (GRCh38)
        11:44156942 (GRCh37)
        Canonical SPDI:
        NC_000011.10:44135391:T:TCT
        Gene:
        EXT2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TCT=0.00126/15 (ALFA)
        TC=0.05017/116 (GnomAD)
        HGVS:

        4.

        rs1491405419 has merged into rs1215047805 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTT>-,TT,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          11:44243629 (GRCh38)
          11:44265179 (GRCh37)
          Canonical SPDI:
          NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44243618:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          EXT2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000011.10:g.44243629_44243643del, NC_000011.10:g.44243631_44243643del, NC_000011.10:g.44243632_44243643del, NC_000011.10:g.44243636_44243643del, NC_000011.10:g.44243637_44243643del, NC_000011.10:g.44243638_44243643del, NC_000011.10:g.44243639_44243643del, NC_000011.10:g.44243640_44243643del, NC_000011.10:g.44243641_44243643del, NC_000011.10:g.44243642_44243643del, NC_000011.10:g.44243643del, NC_000011.10:g.44243643dup, NC_000011.10:g.44243642_44243643dup, NC_000011.10:g.44243641_44243643dup, NC_000011.10:g.44243640_44243643dup, NC_000011.10:g.44243639_44243643dup, NC_000011.10:g.44243638_44243643dup, NC_000011.10:g.44243637_44243643dup, NC_000011.10:g.44243636_44243643dup, NC_000011.10:g.44243635_44243643dup, NC_000011.10:g.44243634_44243643dup, NC_000011.10:g.44243633_44243643dup, NC_000011.10:g.44243631_44243643dup, NC_000011.10:g.44243630_44243643dup, NC_000011.10:g.44243629_44243643dup, NC_000011.10:g.44243628_44243643dup, NC_000011.10:g.44243627_44243643dup, NC_000011.10:g.44243626_44243643dup, NC_000011.10:g.44243625_44243643dup, NC_000011.10:g.44243624_44243643dup, NC_000011.10:g.44243623_44243643dup, NC_000011.10:g.44243622_44243643dup, NC_000011.10:g.44243621_44243643dup, NC_000011.10:g.44243620_44243643dup, NC_000011.9:g.44265179_44265193del, NC_000011.9:g.44265181_44265193del, NC_000011.9:g.44265182_44265193del, NC_000011.9:g.44265186_44265193del, NC_000011.9:g.44265187_44265193del, NC_000011.9:g.44265188_44265193del, NC_000011.9:g.44265189_44265193del, NC_000011.9:g.44265190_44265193del, NC_000011.9:g.44265191_44265193del, NC_000011.9:g.44265192_44265193del, NC_000011.9:g.44265193del, NC_000011.9:g.44265193dup, NC_000011.9:g.44265192_44265193dup, NC_000011.9:g.44265191_44265193dup, NC_000011.9:g.44265190_44265193dup, NC_000011.9:g.44265189_44265193dup, NC_000011.9:g.44265188_44265193dup, NC_000011.9:g.44265187_44265193dup, NC_000011.9:g.44265186_44265193dup, NC_000011.9:g.44265185_44265193dup, NC_000011.9:g.44265184_44265193dup, NC_000011.9:g.44265183_44265193dup, NC_000011.9:g.44265181_44265193dup, NC_000011.9:g.44265180_44265193dup, NC_000011.9:g.44265179_44265193dup, NC_000011.9:g.44265178_44265193dup, NC_000011.9:g.44265177_44265193dup, NC_000011.9:g.44265176_44265193dup, NC_000011.9:g.44265175_44265193dup, NC_000011.9:g.44265174_44265193dup, NC_000011.9:g.44265173_44265193dup, NC_000011.9:g.44265172_44265193dup, NC_000011.9:g.44265171_44265193dup, NC_000011.9:g.44265170_44265193dup, NG_007560.1:g.153081_153095del, NG_007560.1:g.153083_153095del, NG_007560.1:g.153084_153095del, NG_007560.1:g.153088_153095del, NG_007560.1:g.153089_153095del, NG_007560.1:g.153090_153095del, NG_007560.1:g.153091_153095del, NG_007560.1:g.153092_153095del, NG_007560.1:g.153093_153095del, NG_007560.1:g.153094_153095del, NG_007560.1:g.153095del, NG_007560.1:g.153095dup, NG_007560.1:g.153094_153095dup, NG_007560.1:g.153093_153095dup, NG_007560.1:g.153092_153095dup, NG_007560.1:g.153091_153095dup, NG_007560.1:g.153090_153095dup, NG_007560.1:g.153089_153095dup, NG_007560.1:g.153088_153095dup, NG_007560.1:g.153087_153095dup, NG_007560.1:g.153086_153095dup, NG_007560.1:g.153085_153095dup, NG_007560.1:g.153083_153095dup, NG_007560.1:g.153082_153095dup, NG_007560.1:g.153081_153095dup, NG_007560.1:g.153080_153095dup, NG_007560.1:g.153079_153095dup, NG_007560.1:g.153078_153095dup, NG_007560.1:g.153077_153095dup, NG_007560.1:g.153076_153095dup, NG_007560.1:g.153075_153095dup, NG_007560.1:g.153074_153095dup, NG_007560.1:g.153073_153095dup, NG_007560.1:g.153072_153095dup

          5.

          rs1491316348 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            11:44102535 (GRCh38)
            11:44124086 (GRCh37)
            Canonical SPDI:
            NC_000011.10:44102535::C
            Gene:
            EXT2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.00008/1 (ALFA)
            C=0.00008/2 (TOMMO)
            HGVS:

            6.

            rs1491276620 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              11:44119123 (GRCh38)
              11:44140674 (GRCh37)
              Canonical SPDI:
              NC_000011.10:44119123::A
              Gene:
              EXT2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.00007/1 (TOMMO)
              A=0.00085/1 (Korea1K)
              A=0.00273/68 (GnomAD)
              HGVS:

              7.

              rs1491259770 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CTT [Show Flanks]
                Chromosome:
                11:44173564 (GRCh38)
                11:44195115 (GRCh37)
                Canonical SPDI:
                NC_000011.10:44173564:TT:TTCTT
                Gene:
                EXT2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTCTT=0./0 (ALFA)
                TTC=0.000004/1 (TOPMED)
                TTC=0.001302/30 (TOMMO)
                HGVS:

                8.

                rs1491188097 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CA [Show Flanks]
                  Chromosome:
                  11:44174411 (GRCh38)
                  11:44195962 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:44174411:A:ACA
                  Gene:
                  EXT2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACA=0./0 (ALFA)
                  AC=0.000004/1 (TOPMED)
                  AC=0.000008/1 (GnomAD)
                  HGVS:

                  9.

                  rs1491186056 has merged into rs66702988 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    11:44173571 (GRCh38)
                    11:44195121 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44173563:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    EXT2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTT=0./0 (ALFA)
                    TTTTTTTTTTTTTTTTTTTTTTTT=0.225/9 (GENOME_DK)
                    HGVS:
                    NC_000011.10:g.44173571_44173586del, NC_000011.10:g.44173574_44173586del, NC_000011.10:g.44173575_44173586del, NC_000011.10:g.44173576_44173586del, NC_000011.10:g.44173577_44173586del, NC_000011.10:g.44173580_44173586del, NC_000011.10:g.44173582_44173586del, NC_000011.10:g.44173583_44173586del, NC_000011.10:g.44173584_44173586del, NC_000011.10:g.44173585_44173586del, NC_000011.10:g.44173586del, NC_000011.10:g.44173586dup, NC_000011.10:g.44173585_44173586dup, NC_000011.10:g.44173564_44173586T[25]GTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.44173584_44173586dup, NC_000011.10:g.44173583_44173586dup, NC_000011.10:g.44173582_44173586dup, NC_000011.10:g.44173581_44173586dup, NC_000011.10:g.44173580_44173586dup, NC_000011.10:g.44173578_44173586dup, NC_000011.10:g.44173577_44173586dup, NC_000011.10:g.44173575_44173586dup, NC_000011.10:g.44173574_44173586dup, NC_000011.10:g.44173568_44173586dup, NC_000011.10:g.44173567_44173586dup, NC_000011.10:g.44173566_44173586dup, NC_000011.10:g.44173565_44173586dup, NC_000011.10:g.44173586_44173587insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.44173586_44173587insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.44173586_44173587insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.44173586_44173587insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.44173586_44173587insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.44173586_44173587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.44195121_44195136del, NC_000011.9:g.44195124_44195136del, NC_000011.9:g.44195125_44195136del, NC_000011.9:g.44195126_44195136del, NC_000011.9:g.44195127_44195136del, NC_000011.9:g.44195130_44195136del, NC_000011.9:g.44195132_44195136del, NC_000011.9:g.44195133_44195136del, NC_000011.9:g.44195134_44195136del, NC_000011.9:g.44195135_44195136del, NC_000011.9:g.44195136del, NC_000011.9:g.44195136dup, NC_000011.9:g.44195135_44195136dup, NC_000011.9:g.44195114_44195136T[25]GTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.44195134_44195136dup, NC_000011.9:g.44195133_44195136dup, NC_000011.9:g.44195132_44195136dup, NC_000011.9:g.44195131_44195136dup, NC_000011.9:g.44195130_44195136dup, NC_000011.9:g.44195128_44195136dup, NC_000011.9:g.44195127_44195136dup, NC_000011.9:g.44195125_44195136dup, NC_000011.9:g.44195124_44195136dup, NC_000011.9:g.44195118_44195136dup, NC_000011.9:g.44195117_44195136dup, NC_000011.9:g.44195116_44195136dup, NC_000011.9:g.44195115_44195136dup, NC_000011.9:g.44195136_44195137insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.44195136_44195137insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.44195136_44195137insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.44195136_44195137insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.44195136_44195137insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.44195136_44195137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007560.1:g.83023_83038del, NG_007560.1:g.83026_83038del, NG_007560.1:g.83027_83038del, NG_007560.1:g.83028_83038del, NG_007560.1:g.83029_83038del, NG_007560.1:g.83032_83038del, NG_007560.1:g.83034_83038del, NG_007560.1:g.83035_83038del, NG_007560.1:g.83036_83038del, NG_007560.1:g.83037_83038del, NG_007560.1:g.83038del, NG_007560.1:g.83038dup, NG_007560.1:g.83037_83038dup, NG_007560.1:g.83016_83038T[25]GTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007560.1:g.83036_83038dup, NG_007560.1:g.83035_83038dup, NG_007560.1:g.83034_83038dup, NG_007560.1:g.83033_83038dup, NG_007560.1:g.83032_83038dup, NG_007560.1:g.83030_83038dup, NG_007560.1:g.83029_83038dup, NG_007560.1:g.83027_83038dup, NG_007560.1:g.83026_83038dup, NG_007560.1:g.83020_83038dup, NG_007560.1:g.83019_83038dup, NG_007560.1:g.83018_83038dup, NG_007560.1:g.83017_83038dup, NG_007560.1:g.83038_83039insTTTTTTTTTTTTTTTTTTTTTTTT, NG_007560.1:g.83038_83039insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007560.1:g.83038_83039insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007560.1:g.83038_83039insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007560.1:g.83038_83039insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007560.1:g.83038_83039insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                    10.

                    rs1491184701 has merged into rs10707708 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      11:44135402 (GRCh38)
                      11:44156952 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      EXT2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTTT=0./0 (ALFA)
                      T=0.2125/1064 (1000Genomes)
                      T=0.26/156 (NorthernSweden)
                      HGVS:
                      NC_000011.10:g.44135402_44135409del, NC_000011.10:g.44135404_44135409del, NC_000011.10:g.44135405_44135409del, NC_000011.10:g.44135406_44135409del, NC_000011.10:g.44135407_44135409del, NC_000011.10:g.44135408_44135409del, NC_000011.10:g.44135409del, NC_000011.10:g.44135409dup, NC_000011.10:g.44135408_44135409dup, NC_000011.10:g.44135407_44135409dup, NC_000011.10:g.44135406_44135409dup, NC_000011.10:g.44135400_44135409dup, NC_000011.9:g.44156952_44156959del, NC_000011.9:g.44156954_44156959del, NC_000011.9:g.44156955_44156959del, NC_000011.9:g.44156956_44156959del, NC_000011.9:g.44156957_44156959del, NC_000011.9:g.44156958_44156959del, NC_000011.9:g.44156959del, NC_000011.9:g.44156959dup, NC_000011.9:g.44156958_44156959dup, NC_000011.9:g.44156957_44156959dup, NC_000011.9:g.44156956_44156959dup, NC_000011.9:g.44156950_44156959dup, NG_007560.1:g.44854_44861del, NG_007560.1:g.44856_44861del, NG_007560.1:g.44857_44861del, NG_007560.1:g.44858_44861del, NG_007560.1:g.44859_44861del, NG_007560.1:g.44860_44861del, NG_007560.1:g.44861del, NG_007560.1:g.44861dup, NG_007560.1:g.44860_44861dup, NG_007560.1:g.44859_44861dup, NG_007560.1:g.44858_44861dup, NG_007560.1:g.44852_44861dup

                      11.

                      rs1491123413 has merged into rs10707708 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        11:44135402 (GRCh38)
                        11:44156952 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44135390:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        EXT2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTTTTT=0./0 (ALFA)
                        T=0.2125/1064 (1000Genomes)
                        T=0.26/156 (NorthernSweden)
                        HGVS:
                        NC_000011.10:g.44135402_44135409del, NC_000011.10:g.44135404_44135409del, NC_000011.10:g.44135405_44135409del, NC_000011.10:g.44135406_44135409del, NC_000011.10:g.44135407_44135409del, NC_000011.10:g.44135408_44135409del, NC_000011.10:g.44135409del, NC_000011.10:g.44135409dup, NC_000011.10:g.44135408_44135409dup, NC_000011.10:g.44135407_44135409dup, NC_000011.10:g.44135406_44135409dup, NC_000011.10:g.44135400_44135409dup, NC_000011.9:g.44156952_44156959del, NC_000011.9:g.44156954_44156959del, NC_000011.9:g.44156955_44156959del, NC_000011.9:g.44156956_44156959del, NC_000011.9:g.44156957_44156959del, NC_000011.9:g.44156958_44156959del, NC_000011.9:g.44156959del, NC_000011.9:g.44156959dup, NC_000011.9:g.44156958_44156959dup, NC_000011.9:g.44156957_44156959dup, NC_000011.9:g.44156956_44156959dup, NC_000011.9:g.44156950_44156959dup, NG_007560.1:g.44854_44861del, NG_007560.1:g.44856_44861del, NG_007560.1:g.44857_44861del, NG_007560.1:g.44858_44861del, NG_007560.1:g.44859_44861del, NG_007560.1:g.44860_44861del, NG_007560.1:g.44861del, NG_007560.1:g.44861dup, NG_007560.1:g.44860_44861dup, NG_007560.1:g.44859_44861dup, NG_007560.1:g.44858_44861dup, NG_007560.1:g.44852_44861dup

                        12.

                        rs1491093987 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TA>- [Show Flanks]
                          Chromosome:
                          11:44124444 (GRCh38)
                          11:44145994 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:44124443:TA:
                          Gene:
                          EXT2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491083281 has merged into rs71035677 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            11:44101958 (GRCh38)
                            11:44123508 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:44101944:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            EXT2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAAAA=0./0 (ALFA)
                            -=0.4129/2068 (1000Genomes)
                            HGVS:
                            NC_000011.10:g.44101958_44101965del, NC_000011.10:g.44101960_44101965del, NC_000011.10:g.44101961_44101965del, NC_000011.10:g.44101963_44101965del, NC_000011.10:g.44101964_44101965del, NC_000011.10:g.44101965del, NC_000011.10:g.44101965dup, NC_000011.10:g.44101964_44101965dup, NC_000011.10:g.44101963_44101965dup, NC_000011.10:g.44101962_44101965dup, NC_000011.10:g.44101961_44101965dup, NC_000011.10:g.44101958_44101965dup, NC_000011.10:g.44101953_44101965dup, NC_000011.9:g.44123508_44123515del, NC_000011.9:g.44123510_44123515del, NC_000011.9:g.44123511_44123515del, NC_000011.9:g.44123513_44123515del, NC_000011.9:g.44123514_44123515del, NC_000011.9:g.44123515del, NC_000011.9:g.44123515dup, NC_000011.9:g.44123514_44123515dup, NC_000011.9:g.44123513_44123515dup, NC_000011.9:g.44123512_44123515dup, NC_000011.9:g.44123511_44123515dup, NC_000011.9:g.44123508_44123515dup, NC_000011.9:g.44123503_44123515dup, NG_007560.1:g.11410_11417del, NG_007560.1:g.11412_11417del, NG_007560.1:g.11413_11417del, NG_007560.1:g.11415_11417del, NG_007560.1:g.11416_11417del, NG_007560.1:g.11417del, NG_007560.1:g.11417dup, NG_007560.1:g.11416_11417dup, NG_007560.1:g.11415_11417dup, NG_007560.1:g.11414_11417dup, NG_007560.1:g.11413_11417dup, NG_007560.1:g.11410_11417dup, NG_007560.1:g.11405_11417dup

                            14.

                            rs1491068258 has merged into rs35564934 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              11:44176936 (GRCh38)
                              11:44198486 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:44176922:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              EXT2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAA=0./0 (ALFA)
                              -=0.2426/1215 (1000Genomes)
                              HGVS:
                              NC_000011.10:g.44176936_44176939del, NC_000011.10:g.44176937_44176939del, NC_000011.10:g.44176938_44176939del, NC_000011.10:g.44176939del, NC_000011.10:g.44176939dup, NC_000011.10:g.44176938_44176939dup, NC_000011.10:g.44176937_44176939dup, NC_000011.10:g.44176936_44176939dup, NC_000011.10:g.44176932_44176939dup, NC_000011.9:g.44198486_44198489del, NC_000011.9:g.44198487_44198489del, NC_000011.9:g.44198488_44198489del, NC_000011.9:g.44198489del, NC_000011.9:g.44198489dup, NC_000011.9:g.44198488_44198489dup, NC_000011.9:g.44198487_44198489dup, NC_000011.9:g.44198486_44198489dup, NC_000011.9:g.44198482_44198489dup, NG_007560.1:g.86388_86391del, NG_007560.1:g.86389_86391del, NG_007560.1:g.86390_86391del, NG_007560.1:g.86391del, NG_007560.1:g.86391dup, NG_007560.1:g.86390_86391dup, NG_007560.1:g.86389_86391dup, NG_007560.1:g.86388_86391dup, NG_007560.1:g.86384_86391dup

                              15.

                              rs1491012702 has merged into rs372890914 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                11:44164890 (GRCh38)
                                11:44186440 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:44164876:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                EXT2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                                -=0.000136/36 (TOPMED)
                                TTTTTT=0.008418/5 (NorthernSweden)
                                T=0.470588/24 (1000Genomes)
                                -=0.475/19 (GENOME_DK)
                                HGVS:
                                NC_000011.10:g.44164890_44164896del, NC_000011.10:g.44164893_44164896del, NC_000011.10:g.44164894_44164896del, NC_000011.10:g.44164895_44164896del, NC_000011.10:g.44164896del, NC_000011.10:g.44164896dup, NC_000011.10:g.44164895_44164896dup, NC_000011.10:g.44164894_44164896dup, NC_000011.10:g.44164893_44164896dup, NC_000011.10:g.44164892_44164896dup, NC_000011.10:g.44164891_44164896dup, NC_000011.9:g.44186440_44186446del, NC_000011.9:g.44186443_44186446del, NC_000011.9:g.44186444_44186446del, NC_000011.9:g.44186445_44186446del, NC_000011.9:g.44186446del, NC_000011.9:g.44186446dup, NC_000011.9:g.44186445_44186446dup, NC_000011.9:g.44186444_44186446dup, NC_000011.9:g.44186443_44186446dup, NC_000011.9:g.44186442_44186446dup, NC_000011.9:g.44186441_44186446dup, NG_007560.1:g.74342_74348del, NG_007560.1:g.74345_74348del, NG_007560.1:g.74346_74348del, NG_007560.1:g.74347_74348del, NG_007560.1:g.74348del, NG_007560.1:g.74348dup, NG_007560.1:g.74347_74348dup, NG_007560.1:g.74346_74348dup, NG_007560.1:g.74345_74348dup, NG_007560.1:g.74344_74348dup, NG_007560.1:g.74343_74348dup

                                16.

                                rs1490985644 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  11:44223976 (GRCh38)
                                  11:44245526 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:44223975:C:G,NC_000011.10:44223975:C:T
                                  Gene:
                                  EXT2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490863957 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    11:44147491 (GRCh38)
                                    11:44169041 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:44147490:C:A
                                    Gene:
                                    EXT2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490838445 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:44112337 (GRCh38)
                                      11:44133887 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:44112336:A:G
                                      Gene:
                                      EXT2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490765580 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:44181808 (GRCh38)
                                        11:44203358 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:44181807:T:C
                                        Gene:
                                        EXT2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0./0 (KOREAN)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490758529 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:44190121 (GRCh38)
                                          11:44211671 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:44190120:C:T
                                          Gene:
                                          EXT2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...