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Items: 1 to 20 of 20511

1.

rs1491569769 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    12:2975183 (GRCh38)
    12:3084349 (GRCh37)
    Canonical SPDI:
    NC_000012.12:2975181:ACA:A
    Gene:
    TEAD4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.101351/450 (ALFA)
    -=0.003397/57 (TOMMO)
    -=0.042942/275 (1000Genomes)
    -=0.068397/9405 (GnomAD)
    HGVS:
    2.

    rs1491561085 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      12:2997814 (GRCh38)
      12:3106981 (GRCh37)
      Canonical SPDI:
      NC_000012.12:2997814::T
      Gene:
      TEAD4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.00003/4 (GnomAD)
      HGVS:
      3.

      rs1491501574 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        12:2972492 (GRCh38)
        12:3081659 (GRCh37)
        Canonical SPDI:
        NC_000012.12:2972492::C
        Gene:
        TEAD4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1491486006 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GT [Show Flanks]
          Chromosome:
          12:2962328 (GRCh38)
          12:3071495 (GRCh37)
          Canonical SPDI:
          NC_000012.12:2962328:T:TGT
          Gene:
          TEAD4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TGT=0./0 (ALFA)
          TG=0.00908/50 (GnomAD)
          HGVS:
          5.

          rs1491443200 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            12:2962326 (GRCh38)
            12:3071493 (GRCh37)
            Canonical SPDI:
            NC_000012.12:2962326::T
            Gene:
            TEAD4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.00081/14 (TOMMO)
            HGVS:
            6.

            rs1491418565 has merged into rs61140040 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
              Chromosome:
              12:2976019 (GRCh38)
              12:3085185 (GRCh37)
              Canonical SPDI:
              NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:2976008:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
              Gene:
              TEAD4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTT=0./0 (ALFA)
              TTT=0.1791/897 (1000Genomes)
              HGVS:
              7.

              rs1491418475 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A,C [Show Flanks]
                Chromosome:
                12:2997806 (GRCh38)
                12:3106973 (GRCh37)
                Canonical SPDI:
                NC_000012.12:2997806::A,NC_000012.12:2997806::C
                Gene:
                TEAD4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1491393039 has merged into rs745423413 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TA>-,TATA,TATAAATATATAAATATATATATA,TATAAATATATAAATATATATATAAATATATAAATATATATATA,TATAAATATATATA,TATAAATATATATATA,TATAAATATATATATAAATATATA,TATAAATATATATATAAATATATAAATATATATATA,TATAAATATATATATAAATATATAAATATATATATAAATATATAAATATATATATA,TATAAATATATATATAAATATATATA,TATAAATATATATATAAATATATATATAAATATATAAATATATATATA,TATAAATATATATATATA,TATAAATATATATATATATATA,TATAAATTTATATATA,TATAAGTATATATATA,TATATA,TATATAAATATATATATA,TATATATA,TATATATAAATATATA,TATATATAAATATATAAATATATATATA,TATATATAAATATATATA,TATATATATAAATATAAATATATAAATATATATATA,TATATATATATATATA,TATATATATATATATAAATATATA,TATATATATATATTTATATATTTATTTATATATATAAATATAAATATATAAATATATATATA,TATATATATATATTTATTTATATATATAAATATAAATATATAAATATATATATA [Show Flanks]
                  Chromosome:
                  12:2962331 (GRCh38)
                  12:3071497 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:2962327:ATATA:ATA,NC_000012.12:2962327:ATATA:ATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATAAATATATATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATAAATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATAAATATATAAATATATATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATAAATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATAAATATATATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATATATATATATATATA,NC_000012.12:2962327:ATATA:ATATATAAATTTATATATA,NC_000012.12:2962327:ATATA:ATATATAAGTATATATATA,NC_000012.12:2962327:ATATA:ATATATATA,NC_000012.12:2962327:ATATA:ATATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATATATA,NC_000012.12:2962327:ATATA:ATATATATATAAATATATA,NC_000012.12:2962327:ATATA:ATATATATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATATATAAATATATATA,NC_000012.12:2962327:ATATA:ATATATATATATAAATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATATATATATATATA,NC_000012.12:2962327:ATATA:ATATATATATATATATATAAATATATA,NC_000012.12:2962327:ATATA:ATATATATATATATATTTATATATTTATTTATATATATAAATATAAATATATAAATATATATATA,NC_000012.12:2962327:ATATA:ATATATATATATATATTTATTTATATATATAAATATAAATATATAAATATATATATA
                  Gene:
                  TEAD4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATATATAAATATATATA=0./0 (ALFA)
                  HGVS:
                  NC_000012.12:g.2962329TA[1], NC_000012.12:g.2962329TA[3], NC_000012.12:g.2962328_2962332ATATATAA[2]AT[5]A[1], NC_000012.12:g.2962328_2962332ATATATAAATATATAAATAT[2]AT[3]A[1], NC_000012.12:g.2962328_2962332AT[3]AAATATATATA[1], NC_000012.12:g.2962328_2962332AT[3]AAATATATATATA[1], NC_000012.12:g.2962328_2962332ATATATAAATAT[2]ATA[1], NC_000012.12:g.2962328_2962332ATATATAAATAT[2]ATAAATATATATATA[1], NC_000012.12:g.2962328_2962332ATATATAAATATATATATAA[2]AT[3]AAATATATATATA[1], NC_000012.12:g.2962332_2962333insTAAATATATATATAAATATATATA, NC_000012.12:g.2962328_2962332ATATATAAATAT[3]ATAAATATATATATA[1], NC_000012.12:g.2962328_2962332AT[3]AAATATATATATATA[1], NC_000012.12:g.2962328_2962332AT[3]AAATATATATATATATATA[1], NC_000012.12:g.2962328_2962332AT[3]AAATTTATATATA[1], NC_000012.12:g.2962328_2962332AT[3]AAGTATATATATA[1], NC_000012.12:g.2962329TA[4], NC_000012.12:g.2962328_2962332AT[4]AAATATATATATA[1], NC_000012.12:g.2962329TA[5], NC_000012.12:g.2962328_2962332AT[5]AAATATATA[1], NC_000012.12:g.2962328_2962332AT[5]AAATATAT[2]AT[2]A[1], NC_000012.12:g.2962328_2962332AT[5]AAATATATATA[1], NC_000012.12:g.2962328_2962332AT[6]AAATAT[2]ATAAATATATATATA[1], NC_000012.12:g.2962329TA[9], NC_000012.12:g.2962328_2962332AT[9]AAATATATA[1], NC_000012.12:g.2962328_2962332AT[8]TTATATATTTATTTATATATATAAATATAAATATATAAATATATATATA[1], NC_000012.12:g.2962328_2962332AT[8]TTAT[2]AT[3]AAATAT[2]ATAAATATATATATA[1], NC_000012.11:g.3071495TA[1], NC_000012.11:g.3071495TA[3], NC_000012.11:g.3071494_3071498ATATATAA[2]AT[5]A[1], NC_000012.11:g.3071494_3071498ATATATAAATATATAAATAT[2]AT[3]A[1], NC_000012.11:g.3071494_3071498AT[3]AAATATATATA[1], NC_000012.11:g.3071494_3071498AT[3]AAATATATATATA[1], NC_000012.11:g.3071494_3071498ATATATAAATAT[2]ATA[1], NC_000012.11:g.3071494_3071498ATATATAAATAT[2]ATAAATATATATATA[1], NC_000012.11:g.3071494_3071498ATATATAAATATATATATAA[2]AT[3]AAATATATATATA[1], NC_000012.11:g.3071498_3071499insTAAATATATATATAAATATATATA, NC_000012.11:g.3071494_3071498ATATATAAATAT[3]ATAAATATATATATA[1], NC_000012.11:g.3071494_3071498AT[3]AAATATATATATATA[1], NC_000012.11:g.3071494_3071498AT[3]AAATATATATATATATATA[1], NC_000012.11:g.3071494_3071498AT[3]AAATTTATATATA[1], NC_000012.11:g.3071494_3071498AT[3]AAGTATATATATA[1], NC_000012.11:g.3071495TA[4], NC_000012.11:g.3071494_3071498AT[4]AAATATATATATA[1], NC_000012.11:g.3071495TA[5], NC_000012.11:g.3071494_3071498AT[5]AAATATATA[1], NC_000012.11:g.3071494_3071498AT[5]AAATATAT[2]AT[2]A[1], NC_000012.11:g.3071494_3071498AT[5]AAATATATATA[1], NC_000012.11:g.3071494_3071498AT[6]AAATAT[2]ATAAATATATATATA[1], NC_000012.11:g.3071495TA[9], NC_000012.11:g.3071494_3071498AT[9]AAATATATA[1], NC_000012.11:g.3071494_3071498AT[8]TTATATATTTATTTATATATATAAATATAAATATATAAATATATATATA[1], NC_000012.11:g.3071494_3071498AT[8]TTAT[2]AT[3]AAATAT[2]ATAAATATATATATA[1], NG_029958.1:g.8018TA[1], NG_029958.1:g.8018TA[3], NG_029958.1:g.8017_8021ATATATAA[2]AT[5]A[1], NG_029958.1:g.8017_8021ATATATAAATATATAAATAT[2]AT[3]A[1], NG_029958.1:g.8017_8021AT[3]AAATATATATA[1], NG_029958.1:g.8017_8021AT[3]AAATATATATATA[1], NG_029958.1:g.8017_8021ATATATAAATAT[2]ATA[1], NG_029958.1:g.8017_8021ATATATAAATAT[2]ATAAATATATATATA[1], NG_029958.1:g.8017_8021ATATATAAATATATATATAA[2]AT[3]AAATATATATATA[1], NG_029958.1:g.8021_8022insTAAATATATATATAAATATATATA, NG_029958.1:g.8017_8021ATATATAAATAT[3]ATAAATATATATATA[1], NG_029958.1:g.8017_8021AT[3]AAATATATATATATA[1], NG_029958.1:g.8017_8021AT[3]AAATATATATATATATATA[1], NG_029958.1:g.8017_8021AT[3]AAATTTATATATA[1], NG_029958.1:g.8017_8021AT[3]AAGTATATATATA[1], NG_029958.1:g.8018TA[4], NG_029958.1:g.8017_8021AT[4]AAATATATATATA[1], NG_029958.1:g.8018TA[5], NG_029958.1:g.8017_8021AT[5]AAATATATA[1], NG_029958.1:g.8017_8021AT[5]AAATATAT[2]AT[2]A[1], NG_029958.1:g.8017_8021AT[5]AAATATATATA[1], NG_029958.1:g.8017_8021AT[6]AAATAT[2]ATAAATATATATATA[1], NG_029958.1:g.8018TA[9], NG_029958.1:g.8017_8021AT[9]AAATATATA[1], NG_029958.1:g.8017_8021AT[8]TTATATATTTATTTATATATATAAATATAAATATATAAATATATATATA[1], NG_029958.1:g.8017_8021AT[8]TTAT[2]AT[3]AAATAT[2]ATAAATATATATATA[1]
                  9.

                  rs1491388989 has merged into rs1555118333 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->T,TAAATATATATATAAAT,TAAATATATATATAAATAT [Show Flanks]
                    Chromosome:
                    12:2962332 (GRCh38)
                    12:3071499 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:2962332::T,NC_000012.12:2962332::TAAATATATATATAAAT,NC_000012.12:2962332::TAAATATATATATAAATAT
                    Gene:
                    TEAD4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.09831/58 (NorthernSweden)
                    T=0.16541/12286 (GnomAD)
                    T=0.41753/6989 (TOMMO)
                    HGVS:
                    10.

                    rs1491386256 has merged into rs869065906 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AA>-,A [Show Flanks]
                      Chromosome:
                      12:2962333 (GRCh38)
                      12:3071499 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:2962331:AAA:A,NC_000012.12:2962331:AAA:AA
                      Gene:
                      TEAD4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.028929/458 (ALFA)
                      -=0.090604/54 (NorthernSweden)
                      -=0.12231/216 (Korea1K)
                      -=0.125584/2103 (TOMMO)
                      -=0.18385/19459 (GnomAD)
                      HGVS:
                      11.

                      rs1491383910 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CA [Show Flanks]
                        Chromosome:
                        12:3023582 (GRCh38)
                        12:3132749 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:3023582:CA:CACA
                        Gene:
                        TEAD4 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        CA=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1491345664 has merged into rs539036756 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
                          Chromosome:
                          12:2977296 (GRCh38)
                          12:3086462 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:2977286:TCTCTCTCTCTCT:TCTCTCTCT,NC_000012.12:2977286:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000012.12:2977286:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000012.12:2977286:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
                          Gene:
                          TEAD4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TCTCTCTCTCT=0./0 (ALFA)
                          -=0.00006/1 (TOMMO)
                          -=0.00359/18 (1000Genomes)
                          HGVS:
                          13.

                          rs1491342596 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            GC>- [Show Flanks]
                            Chromosome:
                            12:2972530 (GRCh38)
                            12:3081696 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:2972529:GC:
                            Gene:
                            TEAD4 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.0034/15 (Estonian)
                            HGVS:
                            14.

                            rs1491337109 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              AT>- [Show Flanks]
                              Chromosome:
                              12:2976008 (GRCh38)
                              12:3085174 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:2976007:AT:
                              Gene:
                              TEAD4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491329603 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->CT [Show Flanks]
                                Chromosome:
                                12:2972530 (GRCh38)
                                12:3081697 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:2972530:CT:CTCT
                                Gene:
                                TEAD4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CTCT=0.40895/4851 (ALFA)
                                CT=0.00035/10 (TOMMO)
                                CT=0.00048/2 (Estonian)
                                HGVS:
                                16.

                                rs1491285464 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AA>- [Show Flanks]
                                  Chromosome:
                                  12:2962327 (GRCh38)
                                  12:3071493 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:2962325:AAA:A
                                  Gene:
                                  TEAD4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.02445/290 (ALFA)
                                  -=0.0009/79 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491269489 has merged into rs751852771 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    12:2972501 (GRCh38)
                                    12:3081667 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:2972491:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    TEAD4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTT=0./0 (ALFA)
                                    HGVS:
                                    NC_000012.12:g.2972501_2972516del, NC_000012.12:g.2972502_2972516del, NC_000012.12:g.2972504_2972516del, NC_000012.12:g.2972505_2972516del, NC_000012.12:g.2972506_2972516del, NC_000012.12:g.2972507_2972516del, NC_000012.12:g.2972508_2972516del, NC_000012.12:g.2972509_2972516del, NC_000012.12:g.2972510_2972516del, NC_000012.12:g.2972511_2972516del, NC_000012.12:g.2972512_2972516del, NC_000012.12:g.2972513_2972516del, NC_000012.12:g.2972514_2972516del, NC_000012.12:g.2972515_2972516del, NC_000012.12:g.2972516del, NC_000012.12:g.2972516dup, NC_000012.12:g.2972515_2972516dup, NC_000012.12:g.2972514_2972516dup, NC_000012.12:g.2972513_2972516dup, NC_000012.12:g.2972512_2972516dup, NC_000012.12:g.2972511_2972516dup, NC_000012.12:g.2972510_2972516dup, NC_000012.12:g.2972509_2972516dup, NC_000012.12:g.2972508_2972516dup, NC_000012.12:g.2972507_2972516dup, NC_000012.12:g.2972506_2972516dup, NC_000012.12:g.2972504_2972516dup, NC_000012.12:g.2972503_2972516dup, NC_000012.12:g.2972516_2972517insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.3081667_3081682del, NC_000012.11:g.3081668_3081682del, NC_000012.11:g.3081670_3081682del, NC_000012.11:g.3081671_3081682del, NC_000012.11:g.3081672_3081682del, NC_000012.11:g.3081673_3081682del, NC_000012.11:g.3081674_3081682del, NC_000012.11:g.3081675_3081682del, NC_000012.11:g.3081676_3081682del, NC_000012.11:g.3081677_3081682del, NC_000012.11:g.3081678_3081682del, NC_000012.11:g.3081679_3081682del, NC_000012.11:g.3081680_3081682del, NC_000012.11:g.3081681_3081682del, NC_000012.11:g.3081682del, NC_000012.11:g.3081682dup, NC_000012.11:g.3081681_3081682dup, NC_000012.11:g.3081680_3081682dup, NC_000012.11:g.3081679_3081682dup, NC_000012.11:g.3081678_3081682dup, NC_000012.11:g.3081677_3081682dup, NC_000012.11:g.3081676_3081682dup, NC_000012.11:g.3081675_3081682dup, NC_000012.11:g.3081674_3081682dup, NC_000012.11:g.3081673_3081682dup, NC_000012.11:g.3081672_3081682dup, NC_000012.11:g.3081670_3081682dup, NC_000012.11:g.3081669_3081682dup, NC_000012.11:g.3081682_3081683insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029958.1:g.18190_18205del, NG_029958.1:g.18191_18205del, NG_029958.1:g.18193_18205del, NG_029958.1:g.18194_18205del, NG_029958.1:g.18195_18205del, NG_029958.1:g.18196_18205del, NG_029958.1:g.18197_18205del, NG_029958.1:g.18198_18205del, NG_029958.1:g.18199_18205del, NG_029958.1:g.18200_18205del, NG_029958.1:g.18201_18205del, NG_029958.1:g.18202_18205del, NG_029958.1:g.18203_18205del, NG_029958.1:g.18204_18205del, NG_029958.1:g.18205del, NG_029958.1:g.18205dup, NG_029958.1:g.18204_18205dup, NG_029958.1:g.18203_18205dup, NG_029958.1:g.18202_18205dup, NG_029958.1:g.18201_18205dup, NG_029958.1:g.18200_18205dup, NG_029958.1:g.18199_18205dup, NG_029958.1:g.18198_18205dup, NG_029958.1:g.18197_18205dup, NG_029958.1:g.18196_18205dup, NG_029958.1:g.18195_18205dup, NG_029958.1:g.18193_18205dup, NG_029958.1:g.18192_18205dup, NG_029958.1:g.18205_18206insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    18.

                                    rs1491251618 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      12:2975175 (GRCh38)
                                      12:3084341 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:2975173:ACA:A
                                      Gene:
                                      TEAD4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ACA=0.33401/3962 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491199670 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GT>-,GTGT [Show Flanks]
                                        Chromosome:
                                        12:2997825 (GRCh38)
                                        12:3106991 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:2997814:GTGTGTGTGTGT:GTGTGTGTGT,NC_000012.12:2997814:GTGTGTGTGTGT:GTGTGTGTGTGTGT
                                        Gene:
                                        TEAD4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GTGTGTGTGTGTGT=0./0 (ALFA)
                                        -=0.00004/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1491092180 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->C
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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