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Items: 1 to 20 of 48265

1.

rs1491564565 has merged into rs1554335810 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,AAAA [Show Flanks]
    Chromosome:
    4:86761171 (GRCh38)
    4:87682324 (GRCh37)
    Canonical SPDI:
    NC_000004.12:86761169:AAA:A,NC_000004.12:86761169:AAA:AAAAA
    Gene:
    PTPN13 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAA=0.000123/2 (ALFA)
    -=0.000974/130 (GnomAD)
    HGVS:

    2.

    rs1491560423 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G,GAACACAGC [Show Flanks]
      Chromosome:
      4:86676544 (GRCh38)
      4:87597698 (GRCh37)
      Canonical SPDI:
      NC_000004.12:86676544::G,NC_000004.12:86676544::GAACACAGC
      Gene:
      PTPN13 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAACACAGC=0./0 (ALFA)
      GAACACAGC=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1491545796 has merged into rs987821654 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,TTTT [Show Flanks]
        Chromosome:
        4:86774726 (GRCh38)
        4:87695879 (GRCh37)
        Canonical SPDI:
        NC_000004.12:86774721:TTTTTT:TTTT,NC_000004.12:86774721:TTTTTT:TTTTTTTT
        Gene:
        PTPN13 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTT=0./0 (ALFA)
        -=0.00107/18 (TOMMO)
        HGVS:

        4.

        rs1491540652 has merged into rs3035339 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
          Chromosome:
          4:86751936 (GRCh38)
          4:87673089 (GRCh37)
          Canonical SPDI:
          NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86751923:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
          Gene:
          PTPN13 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTGTGTGTGTGTG=0./0 (ALFA)
          TG=0.14397/721 (1000Genomes)
          GT=0.18231/676 (TWINSUK)
          GT=0.18371/708 (ALSPAC)
          HGVS:
          NC_000004.12:g.86751924TG[6], NC_000004.12:g.86751924TG[7], NC_000004.12:g.86751924TG[8], NC_000004.12:g.86751924TG[9], NC_000004.12:g.86751924TG[10], NC_000004.12:g.86751924TG[12], NC_000004.12:g.86751924TG[13], NC_000004.12:g.86751924TG[14], NC_000004.12:g.86751924TG[15], NC_000004.12:g.86751924TG[16], NC_000004.11:g.87673077TG[6], NC_000004.11:g.87673077TG[7], NC_000004.11:g.87673077TG[8], NC_000004.11:g.87673077TG[9], NC_000004.11:g.87673077TG[10], NC_000004.11:g.87673077TG[12], NC_000004.11:g.87673077TG[13], NC_000004.11:g.87673077TG[14], NC_000004.11:g.87673077TG[15], NC_000004.11:g.87673077TG[16], NG_029704.1:g.162610TG[6], NG_029704.1:g.162610TG[7], NG_029704.1:g.162610TG[8], NG_029704.1:g.162610TG[9], NG_029704.1:g.162610TG[10], NG_029704.1:g.162610TG[12], NG_029704.1:g.162610TG[13], NG_029704.1:g.162610TG[14], NG_029704.1:g.162610TG[15], NG_029704.1:g.162610TG[16]

          5.

          rs1491500805 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CA [Show Flanks]
            Chromosome:
            4:86774702 (GRCh38)
            4:87695856 (GRCh37)
            Canonical SPDI:
            NC_000004.12:86774702:A:ACA
            Gene:
            PTPN13 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            ACA=0./0 (ALFA)
            AC=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1491468100 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              4:86600432 (GRCh38)
              4:87521585 (GRCh37)
              Canonical SPDI:
              NC_000004.12:86600431:CT:
              Gene:
              PTPN13 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.00017/2 (ALFA)
              -=0.00007/3 (GnomAD)
              -=0.00011/3 (TOMMO)
              HGVS:

              7.

              rs1491460857 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                4:86600458 (GRCh38)
                4:87521612 (GRCh37)
                Canonical SPDI:
                NC_000004.12:86600458:A:AA
                Gene:
                PTPN13 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                AA=0./0 (ALFA)
                A=0.00023/18 (GnomAD)
                HGVS:

                8.

                rs1491443545 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AC>- [Show Flanks]
                  Chromosome:
                  4:86715234 (GRCh38)
                  4:87636387 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:86715233:AC:
                  Gene:
                  PTPN13 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  -=0.000022/3 (GnomAD)
                  -=0.00138/23 (TOMMO)
                  HGVS:

                  9.

                  rs1491417576 has merged into rs10588960 [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,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    4:86600443 (GRCh38)
                    4:87521596 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86600432:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    PTPN13 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTT=0./0 (ALFA)
                    HGVS:
                    NC_000004.12:g.86600443_86600458del, NC_000004.12:g.86600444_86600458del, NC_000004.12:g.86600446_86600458del, NC_000004.12:g.86600447_86600458del, NC_000004.12:g.86600448_86600458del, NC_000004.12:g.86600449_86600458del, NC_000004.12:g.86600450_86600458del, NC_000004.12:g.86600451_86600458del, NC_000004.12:g.86600452_86600458del, NC_000004.12:g.86600453_86600458del, NC_000004.12:g.86600454_86600458del, NC_000004.12:g.86600455_86600458del, NC_000004.12:g.86600456_86600458del, NC_000004.12:g.86600457_86600458del, NC_000004.12:g.86600458del, NC_000004.12:g.86600458dup, NC_000004.12:g.86600457_86600458dup, NC_000004.12:g.86600456_86600458dup, NC_000004.12:g.86600455_86600458dup, NC_000004.12:g.86600452_86600458dup, NC_000004.12:g.86600450_86600458dup, NC_000004.12:g.86600447_86600458dup, NC_000004.12:g.86600458_86600459insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.86600433_86600458T[56]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.86600458_86600459insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.86600458_86600459insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.87521596_87521611del, NC_000004.11:g.87521597_87521611del, NC_000004.11:g.87521599_87521611del, NC_000004.11:g.87521600_87521611del, NC_000004.11:g.87521601_87521611del, NC_000004.11:g.87521602_87521611del, NC_000004.11:g.87521603_87521611del, NC_000004.11:g.87521604_87521611del, NC_000004.11:g.87521605_87521611del, NC_000004.11:g.87521606_87521611del, NC_000004.11:g.87521607_87521611del, NC_000004.11:g.87521608_87521611del, NC_000004.11:g.87521609_87521611del, NC_000004.11:g.87521610_87521611del, NC_000004.11:g.87521611del, NC_000004.11:g.87521611dup, NC_000004.11:g.87521610_87521611dup, NC_000004.11:g.87521609_87521611dup, NC_000004.11:g.87521608_87521611dup, NC_000004.11:g.87521605_87521611dup, NC_000004.11:g.87521603_87521611dup, NC_000004.11:g.87521600_87521611dup, NC_000004.11:g.87521611_87521612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.87521586_87521611T[56]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.87521611_87521612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.87521611_87521612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029704.1:g.11129_11144del, NG_029704.1:g.11130_11144del, NG_029704.1:g.11132_11144del, NG_029704.1:g.11133_11144del, NG_029704.1:g.11134_11144del, NG_029704.1:g.11135_11144del, NG_029704.1:g.11136_11144del, NG_029704.1:g.11137_11144del, NG_029704.1:g.11138_11144del, NG_029704.1:g.11139_11144del, NG_029704.1:g.11140_11144del, NG_029704.1:g.11141_11144del, NG_029704.1:g.11142_11144del, NG_029704.1:g.11143_11144del, NG_029704.1:g.11144del, NG_029704.1:g.11144dup, NG_029704.1:g.11143_11144dup, NG_029704.1:g.11142_11144dup, NG_029704.1:g.11141_11144dup, NG_029704.1:g.11138_11144dup, NG_029704.1:g.11136_11144dup, NG_029704.1:g.11133_11144dup, NG_029704.1:g.11144_11145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029704.1:g.11119_11144T[56]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029704.1:g.11144_11145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029704.1:g.11144_11145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                    10.

                    rs1491380336 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TT>- [Show Flanks]
                      Chromosome:
                      4:86666413 (GRCh38)
                      4:87587566 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:86666412:TT:
                      Gene:
                      PTPN13 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1491307944 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TA>- [Show Flanks]
                        Chromosome:
                        4:86600458 (GRCh38)
                        4:87521611 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:86600457:TA:
                        Gene:
                        PTPN13 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.00074/12 (ALFA)
                        -=0.00042/7 (TOMMO)
                        HGVS:

                        12.

                        rs1491274361 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TA>- [Show Flanks]
                          Chromosome:
                          4:86628501 (GRCh38)
                          4:87549654 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:86628500:TA:
                          Gene:
                          PTPN13 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491246042 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TA>- [Show Flanks]
                            Chromosome:
                            4:86802145 (GRCh38)
                            4:87723298 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:86802144:TA:
                            Gene:
                            PTPN13 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.001837/30 (ALFA)
                            -=0.001095/2 (Korea1K)
                            -=0.00195/253 (GnomAD)
                            -=0.003645/61 (TOMMO)
                            -=0.01/6 (NorthernSweden)
                            HGVS:

                            14.

                            rs1491245399 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              4:86779433 (GRCh38)
                              4:87700587 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:86779433::C
                              Gene:
                              PTPN13 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1491210432 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TA [Show Flanks]
                                Chromosome:
                                4:86790538 (GRCh38)
                                4:87711692 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:86790538:A:ATA
                                Gene:
                                PTPN13 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATA=0.000071/1 (ALFA)
                                AT=0.000015/4 (TOPMED)
                                AT=0.000022/3 (GnomAD)
                                HGVS:

                                16.

                                rs1491188986 has merged into rs55759778 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                                  Chromosome:
                                  4:86802160 (GRCh38)
                                  4:87723313 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:86802146:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                                  Gene:
                                  PTPN13 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
                                  GTGTGTGTGTGTGTGTGTGT=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.86802148TG[6], NC_000004.12:g.86802148TG[9], NC_000004.12:g.86802148TG[10], NC_000004.12:g.86802148TG[11], NC_000004.12:g.86802148TG[12], NC_000004.12:g.86802148TG[13], NC_000004.12:g.86802148TG[14], NC_000004.12:g.86802148TG[15], NC_000004.12:g.86802148TG[17], NC_000004.12:g.86802148TG[18], NC_000004.12:g.86802148TG[19], NC_000004.12:g.86802148TG[20], NC_000004.12:g.86802148TG[21], NC_000004.12:g.86802148TG[22], NC_000004.12:g.86802148TG[23], NC_000004.12:g.86802148TG[24], NC_000004.12:g.86802148TG[26], NC_000004.11:g.87723301TG[6], NC_000004.11:g.87723301TG[9], NC_000004.11:g.87723301TG[10], NC_000004.11:g.87723301TG[11], NC_000004.11:g.87723301TG[12], NC_000004.11:g.87723301TG[13], NC_000004.11:g.87723301TG[14], NC_000004.11:g.87723301TG[15], NC_000004.11:g.87723301TG[17], NC_000004.11:g.87723301TG[18], NC_000004.11:g.87723301TG[19], NC_000004.11:g.87723301TG[20], NC_000004.11:g.87723301TG[21], NC_000004.11:g.87723301TG[22], NC_000004.11:g.87723301TG[23], NC_000004.11:g.87723301TG[24], NC_000004.11:g.87723301TG[26], NG_029704.1:g.212834TG[6], NG_029704.1:g.212834TG[9], NG_029704.1:g.212834TG[10], NG_029704.1:g.212834TG[11], NG_029704.1:g.212834TG[12], NG_029704.1:g.212834TG[13], NG_029704.1:g.212834TG[14], NG_029704.1:g.212834TG[15], NG_029704.1:g.212834TG[17], NG_029704.1:g.212834TG[18], NG_029704.1:g.212834TG[19], NG_029704.1:g.212834TG[20], NG_029704.1:g.212834TG[21], NG_029704.1:g.212834TG[22], NG_029704.1:g.212834TG[23], NG_029704.1:g.212834TG[24], NG_029704.1:g.212834TG[26]

                                  17.

                                  rs1491137143 has merged into rs1017194086 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AA>-,AAA [Show Flanks]
                                    Chromosome:
                                    4:86676545 (GRCh38)
                                    4:87597698 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:86676543:AAA:A,NC_000004.12:86676543:AAA:AAAA
                                    Gene:
                                    PTPN13 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAA=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491117425 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->CTCT [Show Flanks]
                                      Chromosome:
                                      4:86666404 (GRCh38)
                                      4:87587558 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:86666404:TCTCTCTCT:TCTCTCTCTCTCT
                                      Gene:
                                      PTPN13 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      HGVS:

                                      19.

                                      rs1491102493 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AT>- [Show Flanks]
                                        Chromosome:
                                        4:86628515 (GRCh38)
                                        4:87549668 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:86628513:TAT:T
                                        Gene:
                                        PTPN13 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491062549 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AT>- [Show Flanks]
                                          Chromosome:
                                          4:86680399 (GRCh38)
                                          4:87601552 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:86680397:TAT:T
                                          Gene:
                                          PTPN13 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000022/3 (GnomAD)
                                          HGVS:

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