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Items: 1 to 20 of 1000

1.

rs1491573674 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    13:45385510 (GRCh38)
    13:45959645 (GRCh37)
    Canonical SPDI:
    NC_000013.11:45385507:AAAA:AA
    Gene:
    TPT1-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1491571710 has merged into rs764292578 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,TTATTT,TTT,TTTT [Show Flanks]
      Chromosome:
      13:45349342 (GRCh38)
      13:45923477 (GRCh37)
      Canonical SPDI:
      NC_000013.11:45349340:TTT:T,NC_000013.11:45349340:TTT:TTTATTT,NC_000013.11:45349340:TTT:TTTT,NC_000013.11:45349340:TTT:TTTTT
      Gene:
      TPT1-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTT=0./0 (ALFA)
      -=0./0 (GnomAD)
      TTTA=0.102481/380 (TWINSUK)
      TTTA=0.108199/417 (ALSPAC)
      HGVS:
      3.

      rs1491546261 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->ATTTATACACTGT [Show Flanks]
        Chromosome:
        13:45391947 (GRCh38)
        13:45966083 (GRCh37)
        Canonical SPDI:
        NC_000013.11:45391947:TATTTATACACTGT:TATTTATACACTGTATTTATACACTGT
        Gene:
        TPT1-AS1 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TATTTATACACTGTATTTATACACTGT=0./0 (ALFA)
        TATTTATACACTG=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491543121 has merged into rs58847197 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
          Chromosome:
          13:45367310 (GRCh38)
          13:45941445 (GRCh37)
          Canonical SPDI:
          NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:45367297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
          Gene:
          TPT1-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAA=0./0 (ALFA)
          AA=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491514739 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            13:45380721 (GRCh38)
            13:45954857 (GRCh37)
            Canonical SPDI:
            NC_000013.11:45380721:GGGG:GGGGG
            Gene:
            TPT1-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGG=0./0 (ALFA)
            G=0.000015/2 (GnomAD)
            G=0.000023/6 (TOPMED)
            HGVS:
            6.

            rs1491506478 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              13:45381821 (GRCh38)
              13:45955957 (GRCh37)
              Canonical SPDI:
              NC_000013.11:45381821::T
              Gene:
              TPT1-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.0011/13 (ALFA)
              HGVS:
              7.

              rs1491447842 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                13:45366935 (GRCh38)
                13:45941070 (GRCh37)
                Canonical SPDI:
                NC_000013.11:45366932:CTCT:CT
                Gene:
                TPT1-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CTCT=0.000071/1 (ALFA)
                -=0.000049/13 (TOPMED)
                -=0.000057/8 (GnomAD)
                HGVS:
                8.

                rs1491395345 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  13:45391199 (GRCh38)
                  13:45965335 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:45391199:GGGGG:GGGGGG
                  Gene:
                  TPT1-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491390034 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->CTTCTTTCTTTCTTTCTTTCTTTCTTTC [Show Flanks]
                    Chromosome:
                    13:45349341 (GRCh38)
                    13:45923477 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:45349341:TTCTTTCTTTCTTTCTTTCTTTCTTTC:TTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC
                    Gene:
                    TPT1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    TTCTTTCTTTCTTTCTTTCTTTCTTTCC=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1491328684 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AT>- [Show Flanks]
                      Chromosome:
                      13:45391949 (GRCh38)
                      13:45966084 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:45391946:ATAT:AT
                      Gene:
                      TPT1-AS1 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATAT=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      -=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1491313785 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        13:45350292 (GRCh38)
                        13:45924428 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:45350292::T
                        Gene:
                        TPT1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1491312907 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          13:45350293 (GRCh38)
                          13:45924428 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:45350291:AGA:A
                          Gene:
                          TPT1-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1491279574 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AG>- [Show Flanks]
                            Chromosome:
                            13:45391199 (GRCh38)
                            13:45965334 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:45391198:AG:
                            Gene:
                            TPT1-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.000071/1 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1491226803 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              13:45367297 (GRCh38)
                              13:45941432 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:45367296:CA:
                              Gene:
                              TPT1-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.00067/8 (ALFA)
                              HGVS:
                              15.

                              rs1491218827 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->GT [Show Flanks]
                                Chromosome:
                                13:45366933 (GRCh38)
                                13:45941069 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:45366933:T:TGT
                                Gene:
                                TPT1-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                16.

                                rs1491187096 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  13:45381821 (GRCh38)
                                  13:45955956 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:45381820:AG:
                                  Gene:
                                  TPT1-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.00062/10 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1491178191 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CT>-,CTCT [Show Flanks]
                                    Chromosome:
                                    13:45349344 (GRCh38)
                                    13:45923479 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:45349342:TCT:T,NC_000013.11:45349342:TCT:TCTCT
                                    Gene:
                                    TPT1-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TCTCT=0./0 (ALFA)
                                    TC=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1491100120 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->AT [Show Flanks]
                                      Chromosome:
                                      13:45367312 (GRCh38)
                                      13:45941448 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:45367312::AT
                                      Gene:
                                      TPT1-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AT=0./0 (ALFA)
                                      AT=0.000009/1 (GnomAD)
                                      AT=0.05864/226 (ALSPAC)
                                      AT=0.064995/241 (TWINSUK)
                                      HGVS:
                                      19.

                                      rs1491060720 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GA>- [Show Flanks]
                                        Chromosome:
                                        13:45371851 (GRCh38)
                                        13:45945986 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:45371849:AGA:A
                                        Gene:
                                        TPT1-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        -=0.000108/15 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491051374 has merged into rs35793418 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                          Chromosome:
                                          13:45359165 (GRCh38)
                                          13:45933300 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45359157:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                          Gene:
                                          TPT1-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTT=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.45359165_45359180del, NC_000013.11:g.45359167_45359180del, NC_000013.11:g.45359168_45359180del, NC_000013.11:g.45359169_45359180del, NC_000013.11:g.45359170_45359180del, NC_000013.11:g.45359171_45359180del, NC_000013.11:g.45359172_45359180del, NC_000013.11:g.45359173_45359180del, NC_000013.11:g.45359174_45359180del, NC_000013.11:g.45359175_45359180del, NC_000013.11:g.45359176_45359180del, NC_000013.11:g.45359177_45359180del, NC_000013.11:g.45359178_45359180del, NC_000013.11:g.45359179_45359180del, NC_000013.11:g.45359180del, NC_000013.11:g.45359180dup, NC_000013.11:g.45359179_45359180dup, NC_000013.11:g.45359178_45359180dup, NC_000013.11:g.45359177_45359180dup, NC_000013.11:g.45359176_45359180dup, NC_000013.11:g.45359175_45359180dup, NC_000013.11:g.45359174_45359180dup, NC_000013.11:g.45359173_45359180dup, NC_000013.11:g.45359172_45359180dup, NC_000013.11:g.45359171_45359180dup, NC_000013.11:g.45359170_45359180dup, NC_000013.11:g.45359169_45359180dup, NC_000013.11:g.45359168_45359180dup, NC_000013.11:g.45359166_45359180dup, NC_000013.11:g.45359165_45359180dup, NC_000013.11:g.45359162_45359180dup, NC_000013.11:g.45359158_45359180dup, NC_000013.11:g.45359180_45359181insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.45359180_45359181insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45933300_45933315del, NC_000013.10:g.45933302_45933315del, NC_000013.10:g.45933303_45933315del, NC_000013.10:g.45933304_45933315del, NC_000013.10:g.45933305_45933315del, NC_000013.10:g.45933306_45933315del, NC_000013.10:g.45933307_45933315del, NC_000013.10:g.45933308_45933315del, NC_000013.10:g.45933309_45933315del, NC_000013.10:g.45933310_45933315del, NC_000013.10:g.45933311_45933315del, NC_000013.10:g.45933312_45933315del, NC_000013.10:g.45933313_45933315del, NC_000013.10:g.45933314_45933315del, NC_000013.10:g.45933315del, NC_000013.10:g.45933315dup, NC_000013.10:g.45933314_45933315dup, NC_000013.10:g.45933313_45933315dup, NC_000013.10:g.45933312_45933315dup, NC_000013.10:g.45933311_45933315dup, NC_000013.10:g.45933310_45933315dup, NC_000013.10:g.45933309_45933315dup, NC_000013.10:g.45933308_45933315dup, NC_000013.10:g.45933307_45933315dup, NC_000013.10:g.45933306_45933315dup, NC_000013.10:g.45933305_45933315dup, NC_000013.10:g.45933304_45933315dup, NC_000013.10:g.45933303_45933315dup, NC_000013.10:g.45933301_45933315dup, NC_000013.10:g.45933300_45933315dup, NC_000013.10:g.45933297_45933315dup, NC_000013.10:g.45933293_45933315dup, NC_000013.10:g.45933315_45933316insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45933315_45933316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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