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Items: 1 to 20 of 21585

1.

rs1491576076 has merged into rs56657373 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    9:81747463 (GRCh38)
    9:84362378 (GRCh37)
    Canonical SPDI:
    NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    TLE1-DT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.81747463_81747469del, NC_000009.12:g.81747465_81747469del, NC_000009.12:g.81747466_81747469del, NC_000009.12:g.81747467_81747469del, NC_000009.12:g.81747468_81747469del, NC_000009.12:g.81747469del, NC_000009.12:g.81747469dup, NC_000009.12:g.81747468_81747469dup, NC_000009.12:g.81747467_81747469dup, NC_000009.12:g.81747466_81747469dup, NC_000009.12:g.81747465_81747469dup, NC_000009.12:g.81747464_81747469dup, NC_000009.11:g.84362378_84362384del, NC_000009.11:g.84362380_84362384del, NC_000009.11:g.84362381_84362384del, NC_000009.11:g.84362382_84362384del, NC_000009.11:g.84362383_84362384del, NC_000009.11:g.84362384del, NC_000009.11:g.84362384dup, NC_000009.11:g.84362383_84362384dup, NC_000009.11:g.84362382_84362384dup, NC_000009.11:g.84362381_84362384dup, NC_000009.11:g.84362380_84362384dup, NC_000009.11:g.84362379_84362384dup
    2.

    rs1491536895 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      9:81706572 (GRCh38)
      9:84321487 (GRCh37)
      Canonical SPDI:
      NC_000009.12:81706571:AT:
      Gene:
      TLE1-DT (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000253/3 (ALFA)
      -=0.000156/1 (1000Genomes)
      -=0.000535/59 (GnomAD)
      HGVS:
      3.

      rs1491532918 has merged into rs766938374 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG [Show Flanks]
        Chromosome:
        9:81689668 (GRCh38)
        9:84304583 (GRCh37)
        Canonical SPDI:
        NC_000009.12:81689661:GGGGGGGGGG:GGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG
        Gene:
        TLE1 (Varview), TLE1-DT (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGGGGG=0./0 (ALFA)
        -=0.475/19 (GENOME_DK)
        HGVS:
        4.

        rs1491532596 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          9:81746890 (GRCh38)
          9:84361805 (GRCh37)
          Canonical SPDI:
          NC_000009.12:81746888:ACA:A
          Gene:
          TLE1-DT (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1491524021 has merged into rs748819181 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA [Show Flanks]
            Chromosome:
            9:81697260 (GRCh38)
            9:84312175 (GRCh37)
            Canonical SPDI:
            NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA
            Gene:
            TLE1-DT (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            ATATATATATATATATA=0./0 (ALFA)
            -=0.075/3 (GENOME_DK)
            HGVS:
            NC_000009.12:g.81697248TA[6], NC_000009.12:g.81697248TA[7], NC_000009.12:g.81697248TA[8], NC_000009.12:g.81697248TA[9], NC_000009.12:g.81697248TA[10], NC_000009.12:g.81697248TA[11], NC_000009.12:g.81697248TA[13], NC_000009.12:g.81697248TA[14], NC_000009.12:g.81697248TA[15], NC_000009.12:g.81697248TA[16], NC_000009.12:g.81697248TA[17], NC_000009.12:g.81697248TA[18], NC_000009.12:g.81697248TA[19], NC_000009.12:g.81697248TA[20], NC_000009.12:g.81697248TA[21], NC_000009.12:g.81697248TA[22], NC_000009.12:g.81697248TA[23], NC_000009.12:g.81697248TA[24], NC_000009.12:g.81697248TA[25], NC_000009.11:g.84312163TA[6], NC_000009.11:g.84312163TA[7], NC_000009.11:g.84312163TA[8], NC_000009.11:g.84312163TA[9], NC_000009.11:g.84312163TA[10], NC_000009.11:g.84312163TA[11], NC_000009.11:g.84312163TA[13], NC_000009.11:g.84312163TA[14], NC_000009.11:g.84312163TA[15], NC_000009.11:g.84312163TA[16], NC_000009.11:g.84312163TA[17], NC_000009.11:g.84312163TA[18], NC_000009.11:g.84312163TA[19], NC_000009.11:g.84312163TA[20], NC_000009.11:g.84312163TA[21], NC_000009.11:g.84312163TA[22], NC_000009.11:g.84312163TA[23], NC_000009.11:g.84312163TA[24], NC_000009.11:g.84312163TA[25]
            6.

            rs1491491324 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              9:81711913 (GRCh38)
              9:84326829 (GRCh37)
              Canonical SPDI:
              NC_000009.12:81711913:T:TT
              Gene:
              TLE1-DT (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TT=0./0 (ALFA)
              HGVS:
              7.

              rs1491477400 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                9:81774934 (GRCh38)
                9:84389850 (GRCh37)
                Canonical SPDI:
                NC_000009.12:81774934:A:AA
                Gene:
                TLE1-DT (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AA=0./0 (ALFA)
                A=0.000015/2 (GnomAD)
                HGVS:
                8.

                rs1491449958 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  9:81774488 (GRCh38)
                  9:84389404 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:81774488:GGGG:GGGGG
                  Gene:
                  TLE1-DT (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GGGGG=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1491442331 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    9:81746889 (GRCh38)
                    9:84361805 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:81746889:C:CC
                    Gene:
                    TLE1-DT (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CC=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1491440625 has merged into rs1179686074 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      9:81709258 (GRCh38)
                      9:84324173 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      TLE1-DT (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAA=0./0 (ALFA)
                      HGVS:
                      NC_000009.12:g.81709258_81709272del, NC_000009.12:g.81709259_81709272del, NC_000009.12:g.81709260_81709272del, NC_000009.12:g.81709261_81709272del, NC_000009.12:g.81709262_81709272del, NC_000009.12:g.81709263_81709272del, NC_000009.12:g.81709264_81709272del, NC_000009.12:g.81709265_81709272del, NC_000009.12:g.81709266_81709272del, NC_000009.12:g.81709267_81709272del, NC_000009.12:g.81709268_81709272del, NC_000009.12:g.81709270_81709272del, NC_000009.12:g.81709271_81709272del, NC_000009.12:g.81709272del, NC_000009.12:g.81709272dup, NC_000009.12:g.81709271_81709272dup, NC_000009.12:g.81709270_81709272dup, NC_000009.12:g.81709267_81709272dup, NC_000009.12:g.81709266_81709272dup, NC_000009.11:g.84324173_84324187del, NC_000009.11:g.84324174_84324187del, NC_000009.11:g.84324175_84324187del, NC_000009.11:g.84324176_84324187del, NC_000009.11:g.84324177_84324187del, NC_000009.11:g.84324178_84324187del, NC_000009.11:g.84324179_84324187del, NC_000009.11:g.84324180_84324187del, NC_000009.11:g.84324181_84324187del, NC_000009.11:g.84324182_84324187del, NC_000009.11:g.84324183_84324187del, NC_000009.11:g.84324185_84324187del, NC_000009.11:g.84324186_84324187del, NC_000009.11:g.84324187del, NC_000009.11:g.84324187dup, NC_000009.11:g.84324186_84324187dup, NC_000009.11:g.84324185_84324187dup, NC_000009.11:g.84324182_84324187dup, NC_000009.11:g.84324181_84324187dup
                      11.

                      rs1491412019 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->TCAC [Show Flanks]
                        Chromosome:
                        9:81712615 (GRCh38)
                        9:84327531 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:81712615:CAC:CACTCAC
                        Gene:
                        TLE1-DT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CACTCAC=0./0 (ALFA)
                        CACT=0.00021/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491403729 has merged into rs397893266 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
                          Chromosome:
                          9:81731566 (GRCh38)
                          9:84346481 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          TLE1-DT (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAAA=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491354513 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TGGGG [Show Flanks]
                            Chromosome:
                            9:81689655 (GRCh38)
                            9:84304571 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:81689655:GGGG:GGGGTGGGG
                            Gene:
                            TLE1 (Varview), TLE1-DT (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGGGTGGGG=0.00017/2 (ALFA)
                            GGGGT=0.00109/22 (GnomAD)
                            GGGGT=0.00133/20 (TOMMO)
                            GGGGT=0.00237/4 (Korea1K)
                            HGVS:
                            14.

                            rs1491336485 has merged into rs4069933 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                              Chromosome:
                              9:81712630 (GRCh38)
                              9:84327545 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                              Gene:
                              TLE1-DT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ACACACACACACACACA=0./0 (ALFA)
                              AC=0.2059/1031 (1000Genomes)
                              HGVS:
                              NC_000009.12:g.81712616CA[7], NC_000009.12:g.81712616CA[8], NC_000009.12:g.81712616CA[9], NC_000009.12:g.81712616CA[10], NC_000009.12:g.81712616CA[11], NC_000009.12:g.81712616CA[12], NC_000009.12:g.81712616CA[14], NC_000009.12:g.81712616CA[15], NC_000009.12:g.81712616CA[16], NC_000009.12:g.81712616CA[17], NC_000009.12:g.81712616CA[18], NC_000009.12:g.81712616CA[19], NC_000009.12:g.81712616CA[20], NC_000009.12:g.81712616CA[21], NC_000009.12:g.81712616CA[22], NC_000009.12:g.81712616CA[23], NC_000009.12:g.81712616CA[24], NC_000009.12:g.81712616CA[25], NC_000009.12:g.81712616CA[26], NC_000009.12:g.81712616CA[27], NC_000009.12:g.81712616CA[28], NC_000009.12:g.81712616CA[29], NC_000009.11:g.84327531CA[7], NC_000009.11:g.84327531CA[8], NC_000009.11:g.84327531CA[9], NC_000009.11:g.84327531CA[10], NC_000009.11:g.84327531CA[11], NC_000009.11:g.84327531CA[12], NC_000009.11:g.84327531CA[14], NC_000009.11:g.84327531CA[15], NC_000009.11:g.84327531CA[16], NC_000009.11:g.84327531CA[17], NC_000009.11:g.84327531CA[18], NC_000009.11:g.84327531CA[19], NC_000009.11:g.84327531CA[20], NC_000009.11:g.84327531CA[21], NC_000009.11:g.84327531CA[22], NC_000009.11:g.84327531CA[23], NC_000009.11:g.84327531CA[24], NC_000009.11:g.84327531CA[25], NC_000009.11:g.84327531CA[26], NC_000009.11:g.84327531CA[27], NC_000009.11:g.84327531CA[28], NC_000009.11:g.84327531CA[29]
                              15.

                              rs1491321422 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TA>- [Show Flanks]
                                Chromosome:
                                9:81711914 (GRCh38)
                                9:84326829 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:81711912:ATA:A
                                Gene:
                                TLE1-DT (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.00008/1 (ALFA)
                                HGVS:
                                16.

                                rs1491314719 has merged into rs58202187 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  9:81725235 (GRCh38)
                                  9:84340150 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  TLE1-DT (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAA=0./0 (ALFA)
                                  AAA=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000009.12:g.81725235_81725249del, NC_000009.12:g.81725236_81725249del, NC_000009.12:g.81725237_81725249del, NC_000009.12:g.81725239_81725249del, NC_000009.12:g.81725240_81725249del, NC_000009.12:g.81725241_81725249del, NC_000009.12:g.81725242_81725249del, NC_000009.12:g.81725244_81725249del, NC_000009.12:g.81725245_81725249del, NC_000009.12:g.81725246_81725249del, NC_000009.12:g.81725247_81725249del, NC_000009.12:g.81725248_81725249del, NC_000009.12:g.81725249del, NC_000009.12:g.81725249dup, NC_000009.12:g.81725247_81725249dup, NC_000009.12:g.81725243_81725249dup, NC_000009.11:g.84340150_84340164del, NC_000009.11:g.84340151_84340164del, NC_000009.11:g.84340152_84340164del, NC_000009.11:g.84340154_84340164del, NC_000009.11:g.84340155_84340164del, NC_000009.11:g.84340156_84340164del, NC_000009.11:g.84340157_84340164del, NC_000009.11:g.84340159_84340164del, NC_000009.11:g.84340160_84340164del, NC_000009.11:g.84340161_84340164del, NC_000009.11:g.84340162_84340164del, NC_000009.11:g.84340163_84340164del, NC_000009.11:g.84340164del, NC_000009.11:g.84340164dup, NC_000009.11:g.84340162_84340164dup, NC_000009.11:g.84340158_84340164dup, NG_043710.1:g.213_227del, NG_043710.1:g.214_227del, NG_043710.1:g.215_227del, NG_043710.1:g.217_227del, NG_043710.1:g.218_227del, NG_043710.1:g.219_227del, NG_043710.1:g.220_227del, NG_043710.1:g.222_227del, NG_043710.1:g.223_227del, NG_043710.1:g.224_227del, NG_043710.1:g.225_227del, NG_043710.1:g.226_227del, NG_043710.1:g.227del, NG_043710.1:g.227dup, NG_043710.1:g.225_227dup, NG_043710.1:g.221_227dup
                                  17.

                                  rs1491308817 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TC>- [Show Flanks]
                                    Chromosome:
                                    9:81728465 (GRCh38)
                                    9:84343380 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:81728464:TC:
                                    Gene:
                                    TLE1-DT (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.004721/56 (ALFA)
                                    -=0.000425/7 (TOMMO)
                                    -=0.004372/28 (1000Genomes)
                                    -=0.006651/708 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491304187 has merged into rs35530059 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      9:81706585 (GRCh38)
                                      9:84321500 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      TLE1-DT (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTTTTTT=0./0 (ALFA)
                                      TT=0.4151/2079 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1491281861 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        9:81709248 (GRCh38)
                                        9:84324163 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:81709247:CA:
                                        Gene:
                                        TLE1-DT (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.00025/3 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491249586 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GA,GAAAAAAAAAAAAAAAAAACAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          9:81731552 (GRCh38)
                                          9:84346468 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:81731552:A:AGA,NC_000009.12:81731552:A:AGAAAAAAAAAAAAAAAAAACAAAAAAAAA
                                          Gene:
                                          TLE1-DT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AGA=0./0 (ALFA)
                                          AG=0.00006/1 (TOMMO)
                                          HGVS:

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