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Items: 1 to 20 of 30202

1.

rs1491543222 has merged into rs1250118494 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATA>-,TA [Show Flanks]
    Chromosome:
    X:118647975 (GRCh38)
    X:117781938 (GRCh37)
    Canonical SPDI:
    NC_000023.11:118647970:TATATATA:TATA,NC_000023.11:118647970:TATATATA:TATATA
    Gene:
    DOCK11 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TATATA=0./0 (ALFA)
    HGVS:
    2.

    rs1491518092 has merged into rs1190126173 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ATAT>-,AT,ATATAT [Show Flanks]
      Chromosome:
      X:118648528 (GRCh38)
      X:117782491 (GRCh37)
      Canonical SPDI:
      NC_000023.11:118648519:ATATATATATAT:ATATATAT,NC_000023.11:118648519:ATATATATATAT:ATATATATAT,NC_000023.11:118648519:ATATATATATAT:ATATATATATATAT
      Gene:
      DOCK11 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATATATATAT=0./0 (ALFA)
      -=0.000064/17 (TOPMED)
      HGVS:
      3.

      rs1491490130 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        X:118542520 (GRCh38)
        X:117676483 (GRCh37)
        Canonical SPDI:
        NC_000023.11:118542518:TTT:T
        Gene:
        DOCK11 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.00034/4 (ALFA)
        -=0.00262/118 (GnomAD)
        HGVS:
        4.

        rs1491474881 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          X:118602094 (GRCh38)
          X:117736057 (GRCh37)
          Canonical SPDI:
          NC_000023.11:118602093:CT:
          Gene:
          DOCK11 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1491438090 has merged into rs1162244580 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
            Chromosome:
            X:118619496 (GRCh38)
            X:117753459 (GRCh37)
            Canonical SPDI:
            NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:118619480:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            DOCK11 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            6.

            rs1491431011 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              X:118647769 (GRCh38)
              X:117781732 (GRCh37)
              Canonical SPDI:
              NC_000023.11:118647768:AA:
              Gene:
              DOCK11 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491409828 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CG>- [Show Flanks]
                Chromosome:
                X:118626257 (GRCh38)
                X:117760220 (GRCh37)
                Canonical SPDI:
                NC_000023.11:118626256:CG:
                Gene:
                DOCK11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.000084/1 (ALFA)
                -=0.000089/5 (GnomAD)
                -=0.000136/36 (TOPMED)
                HGVS:
                8.

                rs1491408043 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GT,GTGT,GTGTGT [Show Flanks]
                  Chromosome:
                  X:118647137 (GRCh38)
                  X:117781101 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:118647137:T:TGT,NC_000023.11:118647137:T:TGTGT,NC_000023.11:118647137:T:TGTGTGT
                  Gene:
                  DOCK11 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGTGT=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491386110 has merged into rs67646403 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    X:118629830 (GRCh38)
                    X:117763793 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118629816:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    DOCK11 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTT=0./0 (ALFA)
                    -=0.000053/14 (TOPMED)
                    -=0.014884/43 (ALSPAC)
                    -=0.021575/80 (TWINSUK)
                    T=0.438675/1656 (1000Genomes)
                    HGVS:
                    NC_000023.11:g.118629830_118629836del, NC_000023.11:g.118629831_118629836del, NC_000023.11:g.118629833_118629836del, NC_000023.11:g.118629834_118629836del, NC_000023.11:g.118629835_118629836del, NC_000023.11:g.118629836del, NC_000023.11:g.118629836dup, NC_000023.11:g.118629835_118629836dup, NC_000023.11:g.118629834_118629836dup, NC_000023.11:g.118629833_118629836dup, NC_000023.11:g.118629832_118629836dup, NC_000023.11:g.118629831_118629836dup, NC_000023.11:g.118629830_118629836dup, NC_000023.10:g.117763793_117763799del, NC_000023.10:g.117763794_117763799del, NC_000023.10:g.117763796_117763799del, NC_000023.10:g.117763797_117763799del, NC_000023.10:g.117763798_117763799del, NC_000023.10:g.117763799del, NC_000023.10:g.117763799dup, NC_000023.10:g.117763798_117763799dup, NC_000023.10:g.117763797_117763799dup, NC_000023.10:g.117763796_117763799dup, NC_000023.10:g.117763795_117763799dup, NC_000023.10:g.117763794_117763799dup, NC_000023.10:g.117763793_117763799dup
                    10.

                    rs1491341653 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->ATA,ATATAATATATAATAATATATAATATATTATTATATATAATATATAATAATATATAATATATTATAATA [Show Flanks]
                      Chromosome:
                      X:118647971 (GRCh38)
                      X:117781935 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:118647971:ATA:ATAATA,NC_000023.11:118647971:ATA:ATAATATAATATATAATAATATATAATATATTATTATATATAATATATAATAATATATAATATATTATAATA
                      Gene:
                      DOCK11 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      ATAATA=0./0 (ALFA)
                      ATAATATAATATATAATAATATATAATATATTATTATATATAATATATAATAATATATAATATATTATA=0.00003/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491333477 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        X:118629817 (GRCh38)
                        X:117763781 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:118629817::A
                        Gene:
                        DOCK11 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000096/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491302898 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          X:118602095 (GRCh38)
                          X:117736059 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:118602095::C
                          Gene:
                          DOCK11 (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:
                          13.

                          rs1491281482 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            X:118619480 (GRCh38)
                            X:117753443 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:118619479:CA:
                            Gene:
                            DOCK11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491277801 has merged into rs536697143 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              X:118602107 (GRCh38)
                              X:117736070 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:118602094:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              DOCK11 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTT=0./0 (ALFA)
                              T=0.2519/951 (1000Genomes)
                              HGVS:
                              NC_000023.11:g.118602107_118602116del, NC_000023.11:g.118602108_118602116del, NC_000023.11:g.118602109_118602116del, NC_000023.11:g.118602110_118602116del, NC_000023.11:g.118602111_118602116del, NC_000023.11:g.118602114_118602116del, NC_000023.11:g.118602115_118602116del, NC_000023.11:g.118602116del, NC_000023.11:g.118602116dup, NC_000023.11:g.118602115_118602116dup, NC_000023.11:g.118602114_118602116dup, NC_000023.11:g.118602113_118602116dup, NC_000023.10:g.117736070_117736079del, NC_000023.10:g.117736071_117736079del, NC_000023.10:g.117736072_117736079del, NC_000023.10:g.117736073_117736079del, NC_000023.10:g.117736074_117736079del, NC_000023.10:g.117736077_117736079del, NC_000023.10:g.117736078_117736079del, NC_000023.10:g.117736079del, NC_000023.10:g.117736079dup, NC_000023.10:g.117736078_117736079dup, NC_000023.10:g.117736077_117736079dup, NC_000023.10:g.117736076_117736079dup
                              15.

                              rs1491273741 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->CTGTGTGTGT,CTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGT [Show Flanks]
                                Chromosome:
                                X:118549106 (GRCh38)
                                X:117683070 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:118549106:T:TCTGTGTGTGT,NC_000023.11:118549106:T:TCTGTGTGTGTGTGTGTGT,NC_000023.11:118549106:T:TTGTGTGTGTGTGTGT
                                Gene:
                                DOCK11 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                TCTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491213335 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TGGGGGGGGG [Show Flanks]
                                  Chromosome:
                                  X:118632970 (GRCh38)
                                  X:117766934 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:118632970:GGGGGGGGG:GGGGGGGGGTGGGGGGGGG
                                  Gene:
                                  DOCK11 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GGGGGGGGGTGGGGGGGGG=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1491128381 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AA>- [Show Flanks]
                                    Chromosome:
                                    X:118648519 (GRCh38)
                                    X:117782482 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:118648518:AA:
                                    Gene:
                                    DOCK11 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    -=0.000012/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491124645 has merged into rs1221853770 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TA>-,TATA [Show Flanks]
                                      Chromosome:
                                      X:118647775 (GRCh38)
                                      X:117781738 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:118647769:ATATATA:ATATA,NC_000023.11:118647769:ATATATA:ATATATATA
                                      Gene:
                                      DOCK11 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ATATATATA=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491110776 has merged into rs66486569 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GG>-,GGG [Show Flanks]
                                        Chromosome:
                                        X:118626262 (GRCh38)
                                        X:117760225 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:118626257:GGGGGG:GGGG,NC_000023.11:118626257:GGGGGG:GGGGGGG
                                        Gene:
                                        DOCK11 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GGGG=0.35203/2705 (ALFA)
                                        G=0.00001/1 (GnomAD)
                                        GG=0.084406/1084 (TOMMO)
                                        GG=0.336733/1271 (1000Genomes)
                                        GG=0.365524/1056 (ALSPAC)
                                        GG=0.395882/104786 (TOPMED)
                                        GG=0.39617/1469 (TWINSUK)
                                        GG=0.45/18 (GENOME_DK)
                                        HGVS:
                                        20.

                                        rs1491100792 has merged into rs57680469 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TGTGTGTGTGTGTG>-,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                                          Chromosome:
                                          X:118549117 (GRCh38)
                                          X:117683080 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:118549106:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                                          Gene:
                                          DOCK11 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TGTGTGTGTGTGTGTGTG=0./0 (ALFA)
                                          HGVS:
                                          NC_000023.11:g.118549107TG[5], NC_000023.11:g.118549107TG[9], NC_000023.11:g.118549107TG[10], NC_000023.11:g.118549107TG[11], NC_000023.11:g.118549107TG[13], NC_000023.11:g.118549107TG[14], NC_000023.11:g.118549107TG[15], NC_000023.11:g.118549107TG[16], NC_000023.11:g.118549107TG[17], NC_000023.11:g.118549107TG[18], NC_000023.11:g.118549107TG[19], NC_000023.11:g.118549107TG[20], NC_000023.11:g.118549107TG[21], NC_000023.11:g.118549107TG[22], NC_000023.11:g.118549107TG[23], NC_000023.11:g.118549107TG[24], NC_000023.11:g.118549107TG[25], NC_000023.11:g.118549107TG[26], NC_000023.11:g.118549107TG[27], NC_000023.11:g.118549107TG[28], NC_000023.11:g.118549107TG[29], NC_000023.10:g.117683070TG[5], NC_000023.10:g.117683070TG[9], NC_000023.10:g.117683070TG[10], NC_000023.10:g.117683070TG[11], NC_000023.10:g.117683070TG[13], NC_000023.10:g.117683070TG[14], NC_000023.10:g.117683070TG[15], NC_000023.10:g.117683070TG[16], NC_000023.10:g.117683070TG[17], NC_000023.10:g.117683070TG[18], NC_000023.10:g.117683070TG[19], NC_000023.10:g.117683070TG[20], NC_000023.10:g.117683070TG[21], NC_000023.10:g.117683070TG[22], NC_000023.10:g.117683070TG[23], NC_000023.10:g.117683070TG[24], NC_000023.10:g.117683070TG[25], NC_000023.10:g.117683070TG[26], NC_000023.10:g.117683070TG[27], NC_000023.10:g.117683070TG[28], NC_000023.10:g.117683070TG[29]

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