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Items: 1 to 20 of 1000

1.

rs1491546571 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>-,ATAT [Show Flanks]
    Chromosome:
    7:154574779 (GRCh38)
    7:1 (GRCh37)
    Canonical SPDI:
    NC_000007.14:154574776:ATAT:AT,NC_000007.14:154574776:ATAT:ATATAT
    Gene:
    DPP6 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATAT=0.00084/10 (ALFA)
    -=0.00005/1 (TOMMO)
    -=0.00056/1 (Korea1K)
    -=0.0015/102 (GnomAD)
    HGVS:
    2.

    rs1491529535 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TGGG,TGTGGG,TGTGTGGG [Show Flanks]
      Chromosome:
      7:154425619 (GRCh38)
      7:154122705 (GRCh37)
      Canonical SPDI:
      NC_000007.14:154425619:G:GTGGG,NC_000007.14:154425619:G:GTGTGGG,NC_000007.14:154425619:G:GTGTGTGGG
      Gene:
      DPP6 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGGG=0./0 (ALFA)
      GTGTGG=0./0 (GnomAD)
      HGVS:
      3.

      rs1491517967 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        7:154535398 (GRCh38)
        7:154232484 (GRCh37)
        Canonical SPDI:
        NC_000007.14:154535398:A:AA
        Gene:
        DPP6 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AA=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000015/2 (GnomAD)
        HGVS:
        4.

        rs1491515502 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GGTGTGTGT [Show Flanks]
          Chromosome:
          7:154574753 (GRCh38)
          7:-1 (GRCh37)
          Canonical SPDI:
          NC_000007.14:154574753:GTGTGTGT:GTGTGTGTGGTGTGTGT
          Gene:
          DPP6 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGTGGTGTGTGT=0.006323/75 (ALFA)
          GTGTGTGTG=0.007068/835 (GnomAD)
          GTGTGTGTG=0.007183/46 (1000Genomes)
          HGVS:
          5.

          rs1491491444 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            >
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491488983 has merged into rs397890050 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              7:154451375 (GRCh38)
              7:154148460 (GRCh37)
              Canonical SPDI:
              NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154451361:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              DPP6 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000007.14:g.154451375_154451380del, NC_000007.14:g.154451376_154451380del, NC_000007.14:g.154451377_154451380del, NC_000007.14:g.154451378_154451380del, NC_000007.14:g.154451379_154451380del, NC_000007.14:g.154451380del, NC_000007.14:g.154451380dup, NC_000007.14:g.154451379_154451380dup, NC_000007.14:g.154451378_154451380dup, NC_000007.14:g.154451377_154451380dup, NC_000007.14:g.154451376_154451380dup, NC_000007.14:g.154451375_154451380dup, NC_000007.14:g.154451374_154451380dup, NC_000007.14:g.154451373_154451380dup, NC_000007.14:g.154451372_154451380dup, NC_000007.14:g.154451371_154451380dup, NC_000007.14:g.154451370_154451380dup, NC_000007.13:g.154148460_154148465del, NC_000007.13:g.154148461_154148465del, NC_000007.13:g.154148462_154148465del, NC_000007.13:g.154148463_154148465del, NC_000007.13:g.154148464_154148465del, NC_000007.13:g.154148465del, NC_000007.13:g.154148465dup, NC_000007.13:g.154148464_154148465dup, NC_000007.13:g.154148463_154148465dup, NC_000007.13:g.154148462_154148465dup, NC_000007.13:g.154148461_154148465dup, NC_000007.13:g.154148460_154148465dup, NC_000007.13:g.154148459_154148465dup, NC_000007.13:g.154148458_154148465dup, NC_000007.13:g.154148457_154148465dup, NC_000007.13:g.154148456_154148465dup, NC_000007.13:g.154148455_154148465dup, NG_033878.2:g.708390_708395del, NG_033878.2:g.708391_708395del, NG_033878.2:g.708392_708395del, NG_033878.2:g.708393_708395del, NG_033878.2:g.708394_708395del, NG_033878.2:g.708395del, NG_033878.2:g.708395dup, NG_033878.2:g.708394_708395dup, NG_033878.2:g.708393_708395dup, NG_033878.2:g.708392_708395dup, NG_033878.2:g.708391_708395dup, NG_033878.2:g.708390_708395dup, NG_033878.2:g.708389_708395dup, NG_033878.2:g.708388_708395dup, NG_033878.2:g.708387_708395dup, NG_033878.2:g.708386_708395dup, NG_033878.2:g.708385_708395dup, NW_012132919.1:g.29024_29029del, NW_012132919.1:g.29025_29029del, NW_012132919.1:g.29026_29029del, NW_012132919.1:g.29027_29029del, NW_012132919.1:g.29028_29029del, NW_012132919.1:g.29029del, NW_012132919.1:g.29029dup, NW_012132919.1:g.29028_29029dup, NW_012132919.1:g.29027_29029dup, NW_012132919.1:g.29026_29029dup, NW_012132919.1:g.29025_29029dup, NW_012132919.1:g.29024_29029dup, NW_012132919.1:g.29023_29029dup, NW_012132919.1:g.29022_29029dup, NW_012132919.1:g.29021_29029dup, NW_012132919.1:g.29020_29029dup, NW_012132919.1:g.29019_29029dup
              7.

              rs1491487321 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                7:154544140 (GRCh38)
                7:154241225 (GRCh37)
                Canonical SPDI:
                NC_000007.14:154544137:TTTT:TT
                Gene:
                DPP6 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTTT=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1491462935 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  7:154451361 (GRCh38)
                  7:154148446 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:154451360:CA:
                  Gene:
                  DPP6 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491461278 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    7:154553902 (GRCh38)
                    7:154250987 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:154553901:CA:
                    Gene:
                    DPP6 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00067/8 (ALFA)
                    HGVS:
                    10.

                    rs1491460385 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->GA
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491455452 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TT>- [Show Flanks]
                        Chromosome:
                        7:154430906 (GRCh38)
                        7:154127991 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:154430905:TT:
                        Gene:
                        DPP6 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000268/71 (TOPMED)
                        -=0.003328/93 (GnomAD)
                        -=0.014686/167 (TOMMO)
                        -=0.030631/34 (Korea1K)
                        HGVS:
                        12.

                        rs1491445992 has merged into rs34372202 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
                          Chromosome:
                          7:154535395 (GRCh38)
                          7:154232480 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:154535386:TTTTTTTTTTTT:TTTTTTTT,NC_000007.14:154535386:TTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:154535386:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:154535386:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:154535386:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:154535386:TTTTTTTTTTTT:TTTTTTTTTTTTTT
                          Gene:
                          DPP6 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTT=0./0 (ALFA)
                          T=0.4163/2085 (1000Genomes)
                          HGVS:
                          13.

                          rs1491413761 has merged into rs56020996 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            7:154553913 (GRCh38)
                            7:154250998 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:154553902:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            DPP6 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAA=0./0 (ALFA)
                            -=0.000011/3 (TOPMED)
                            -=0.171526/859 (1000Genomes)
                            HGVS:
                            NC_000007.14:g.154553913_154553924del, NC_000007.14:g.154553916_154553924del, NC_000007.14:g.154553918_154553924del, NC_000007.14:g.154553919_154553924del, NC_000007.14:g.154553920_154553924del, NC_000007.14:g.154553921_154553924del, NC_000007.14:g.154553922_154553924del, NC_000007.14:g.154553923_154553924del, NC_000007.14:g.154553924del, NC_000007.14:g.154553924dup, NC_000007.14:g.154553923_154553924dup, NC_000007.14:g.154553922_154553924dup, NC_000007.14:g.154553921_154553924dup, NC_000007.14:g.154553919_154553924dup, NC_000007.13:g.154250998_154251009del, NC_000007.13:g.154251001_154251009del, NC_000007.13:g.154251003_154251009del, NC_000007.13:g.154251004_154251009del, NC_000007.13:g.154251005_154251009del, NC_000007.13:g.154251006_154251009del, NC_000007.13:g.154251007_154251009del, NC_000007.13:g.154251008_154251009del, NC_000007.13:g.154251009del, NC_000007.13:g.154251009dup, NC_000007.13:g.154251008_154251009dup, NC_000007.13:g.154251007_154251009dup, NC_000007.13:g.154251006_154251009dup, NC_000007.13:g.154251004_154251009dup, NG_033878.2:g.810928_810939del, NG_033878.2:g.810931_810939del, NG_033878.2:g.810933_810939del, NG_033878.2:g.810934_810939del, NG_033878.2:g.810935_810939del, NG_033878.2:g.810936_810939del, NG_033878.2:g.810937_810939del, NG_033878.2:g.810938_810939del, NG_033878.2:g.810939del, NG_033878.2:g.810939dup, NG_033878.2:g.810938_810939dup, NG_033878.2:g.810937_810939dup, NG_033878.2:g.810936_810939dup, NG_033878.2:g.810934_810939dup, NW_012132919.1:g.131562_131573del, NW_012132919.1:g.131565_131573del, NW_012132919.1:g.131567_131573del, NW_012132919.1:g.131568_131573del, NW_012132919.1:g.131569_131573del, NW_012132919.1:g.131570_131573del, NW_012132919.1:g.131571_131573del, NW_012132919.1:g.131572_131573del, NW_012132919.1:g.131573del, NW_012132919.1:g.131573dup, NW_012132919.1:g.131572_131573dup, NW_012132919.1:g.131571_131573dup, NW_012132919.1:g.131570_131573dup, NW_012132919.1:g.131568_131573dup
                            14.

                            rs1491409085 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->AT [Show Flanks]
                              Chromosome:
                              7:154544138 (GRCh38)
                              7:154241224 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:154544138:T:TAT
                              Gene:
                              DPP6 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TAT=0./0 (ALFA)
                              TA=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1491376157 has merged into rs34283278 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                                Chromosome:
                                7:154546502 (GRCh38)
                                7:154243587 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:154546488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
                                Gene:
                                DPP6 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                                -=0.147/512 (1000Genomes)
                                A=0.425/17 (GENOME_DK)
                                -=0.4379/261 (NorthernSweden)
                                HGVS:
                                16.

                                rs1491373416 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
                                  Chromosome:
                                  7:154481344 (GRCh38)
                                  7:154178430 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:154481344:G:GTG,NC_000007.14:154481344:G:GTGTG,NC_000007.14:154481344:G:GTGTGTG,NC_000007.14:154481344:G:GTGTGTGTG,NC_000007.14:154481344:G:GTGTGTGTGTG,NC_000007.14:154481344:G:GTGTGTGTGTGTG,NC_000007.14:154481344:G:GTGTGTGTGTGTGTG,NC_000007.14:154481344:G:GTGTGTGTGTGTGTGTG,NC_000007.14:154481344:G:GTGTGTGTGTGTGTGTGTG,NC_000007.14:154481344:G:GTGTGTGTGTGTGTGTGTGTG
                                  Gene:
                                  DPP6 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GTGTG=0./0 (ALFA)
                                  HGVS:
                                  NC_000007.14:g.154481345_154481346insTG, NC_000007.14:g.154481345_154481346insTGTG, NC_000007.14:g.154481346TG[3], NC_000007.14:g.154481346TG[4], NC_000007.14:g.154481346TG[5], NC_000007.14:g.154481346TG[6], NC_000007.14:g.154481346TG[7], NC_000007.14:g.154481346TG[8], NC_000007.14:g.154481346TG[9], NC_000007.14:g.154481346TG[10], NC_000007.13:g.154178430_154178431insTG, NC_000007.13:g.154178430_154178431insTGTG, NC_000007.13:g.154178431TG[3], NC_000007.13:g.154178431TG[4], NC_000007.13:g.154178431TG[5], NC_000007.13:g.154178431TG[6], NC_000007.13:g.154178431TG[7], NC_000007.13:g.154178431TG[8], NC_000007.13:g.154178431TG[9], NC_000007.13:g.154178431TG[10], NG_033878.2:g.738360_738361insTG, NG_033878.2:g.738360_738361insTGTG, NG_033878.2:g.738361TG[3], NG_033878.2:g.738361TG[4], NG_033878.2:g.738361TG[5], NG_033878.2:g.738361TG[6], NG_033878.2:g.738361TG[7], NG_033878.2:g.738361TG[8], NG_033878.2:g.738361TG[9], NG_033878.2:g.738361TG[10], NW_012132919.1:g.58994_58995insTG, NW_012132919.1:g.58994_58995insTGTG, NW_012132919.1:g.58995TG[3], NW_012132919.1:g.58995TG[4], NW_012132919.1:g.58995TG[5], NW_012132919.1:g.58995TG[6], NW_012132919.1:g.58995TG[7], NW_012132919.1:g.58995TG[8], NW_012132919.1:g.58995TG[9], NW_012132919.1:g.58995TG[10]
                                  17.

                                  rs1491354676 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GT>- [Show Flanks]
                                    Chromosome:
                                    7:154574760 (GRCh38)
                                    7:6 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:154574752:TGTGTGTGT:TGTGTGT
                                    Gene:
                                    DPP6 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TGTGTGT=0./0 (ALFA)
                                    -=0.000024/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491342669 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      7:154459805 (GRCh38)
                                      7:154156890 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:154459804:CA:
                                      Gene:
                                      DPP6 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0.00573/68 (ALFA)
                                      -=0.00341/96 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1491330418 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AT>- [Show Flanks]
                                        Chromosome:
                                        7:154535399 (GRCh38)
                                        7:154232484 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:154535397:TAT:T
                                        Gene:
                                        DPP6 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1491327217 has merged into rs548053204 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTTTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                          Chromosome:
                                          7:154433146 (GRCh38)
                                          7:154130231 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:154433136:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                          Gene:
                                          DPP6 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTTTT=0./0 (ALFA)
                                          TTT=0.4884/2446 (1000Genomes)
                                          HGVS:
                                          NC_000007.14:g.154433146_154433163del, NC_000007.14:g.154433147_154433163del, NC_000007.14:g.154433148_154433163del, NC_000007.14:g.154433150_154433163del, NC_000007.14:g.154433151_154433163del, NC_000007.14:g.154433152_154433163del, NC_000007.14:g.154433153_154433163del, NC_000007.14:g.154433155_154433163del, NC_000007.14:g.154433156_154433163del, NC_000007.14:g.154433157_154433163del, NC_000007.14:g.154433158_154433163del, NC_000007.14:g.154433159_154433163del, NC_000007.14:g.154433160_154433163del, NC_000007.14:g.154433161_154433163del, NC_000007.14:g.154433162_154433163del, NC_000007.14:g.154433163del, NC_000007.14:g.154433163dup, NC_000007.14:g.154433162_154433163dup, NC_000007.14:g.154433161_154433163dup, NC_000007.14:g.154433160_154433163dup, NC_000007.14:g.154433159_154433163dup, NC_000007.14:g.154433158_154433163dup, NC_000007.14:g.154433157_154433163dup, NC_000007.14:g.154433156_154433163dup, NC_000007.14:g.154433155_154433163dup, NC_000007.14:g.154433154_154433163dup, NC_000007.14:g.154433153_154433163dup, NC_000007.14:g.154433152_154433163dup, NC_000007.14:g.154433151_154433163dup, NC_000007.14:g.154433150_154433163dup, NC_000007.14:g.154433149_154433163dup, NC_000007.14:g.154433148_154433163dup, NC_000007.14:g.154433147_154433163dup, NC_000007.14:g.154433146_154433163dup, NC_000007.14:g.154433145_154433163dup, NC_000007.14:g.154433144_154433163dup, NC_000007.14:g.154433142_154433163dup, NC_000007.14:g.154433141_154433163dup, NC_000007.14:g.154433139_154433163dup, NC_000007.14:g.154433163_154433164insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.154130231_154130248del, NC_000007.13:g.154130232_154130248del, NC_000007.13:g.154130233_154130248del, NC_000007.13:g.154130235_154130248del, NC_000007.13:g.154130236_154130248del, NC_000007.13:g.154130237_154130248del, NC_000007.13:g.154130238_154130248del, NC_000007.13:g.154130240_154130248del, NC_000007.13:g.154130241_154130248del, NC_000007.13:g.154130242_154130248del, NC_000007.13:g.154130243_154130248del, NC_000007.13:g.154130244_154130248del, NC_000007.13:g.154130245_154130248del, NC_000007.13:g.154130246_154130248del, NC_000007.13:g.154130247_154130248del, NC_000007.13:g.154130248del, NC_000007.13:g.154130248dup, NC_000007.13:g.154130247_154130248dup, NC_000007.13:g.154130246_154130248dup, NC_000007.13:g.154130245_154130248dup, NC_000007.13:g.154130244_154130248dup, NC_000007.13:g.154130243_154130248dup, NC_000007.13:g.154130242_154130248dup, NC_000007.13:g.154130241_154130248dup, NC_000007.13:g.154130240_154130248dup, NC_000007.13:g.154130239_154130248dup, NC_000007.13:g.154130238_154130248dup, NC_000007.13:g.154130237_154130248dup, NC_000007.13:g.154130236_154130248dup, NC_000007.13:g.154130235_154130248dup, NC_000007.13:g.154130234_154130248dup, NC_000007.13:g.154130233_154130248dup, NC_000007.13:g.154130232_154130248dup, NC_000007.13:g.154130231_154130248dup, NC_000007.13:g.154130230_154130248dup, NC_000007.13:g.154130229_154130248dup, NC_000007.13:g.154130227_154130248dup, NC_000007.13:g.154130226_154130248dup, NC_000007.13:g.154130224_154130248dup, NC_000007.13:g.154130248_154130249insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033878.2:g.690161_690178del, NG_033878.2:g.690162_690178del, NG_033878.2:g.690163_690178del, NG_033878.2:g.690165_690178del, NG_033878.2:g.690166_690178del, NG_033878.2:g.690167_690178del, NG_033878.2:g.690168_690178del, NG_033878.2:g.690170_690178del, NG_033878.2:g.690171_690178del, NG_033878.2:g.690172_690178del, NG_033878.2:g.690173_690178del, NG_033878.2:g.690174_690178del, NG_033878.2:g.690175_690178del, NG_033878.2:g.690176_690178del, NG_033878.2:g.690177_690178del, NG_033878.2:g.690178del, NG_033878.2:g.690178dup, NG_033878.2:g.690177_690178dup, NG_033878.2:g.690176_690178dup, NG_033878.2:g.690175_690178dup, NG_033878.2:g.690174_690178dup, NG_033878.2:g.690173_690178dup, NG_033878.2:g.690172_690178dup, NG_033878.2:g.690171_690178dup, NG_033878.2:g.690170_690178dup, NG_033878.2:g.690169_690178dup, NG_033878.2:g.690168_690178dup, NG_033878.2:g.690167_690178dup, NG_033878.2:g.690166_690178dup, NG_033878.2:g.690165_690178dup, NG_033878.2:g.690164_690178dup, NG_033878.2:g.690163_690178dup, NG_033878.2:g.690162_690178dup, NG_033878.2:g.690161_690178dup, NG_033878.2:g.690160_690178dup, NG_033878.2:g.690159_690178dup, NG_033878.2:g.690157_690178dup, NG_033878.2:g.690156_690178dup, NG_033878.2:g.690154_690178dup, NG_033878.2:g.690178_690179insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_012132919.1:g.10795_10812del, NW_012132919.1:g.10796_10812del, NW_012132919.1:g.10797_10812del, NW_012132919.1:g.10799_10812del, NW_012132919.1:g.10800_10812del, NW_012132919.1:g.10801_10812del, NW_012132919.1:g.10802_10812del, NW_012132919.1:g.10804_10812del, NW_012132919.1:g.10805_10812del, NW_012132919.1:g.10806_10812del, NW_012132919.1:g.10807_10812del, NW_012132919.1:g.10808_10812del, NW_012132919.1:g.10809_10812del, NW_012132919.1:g.10810_10812del, NW_012132919.1:g.10811_10812del, NW_012132919.1:g.10812del, NW_012132919.1:g.10812dup, NW_012132919.1:g.10811_10812dup, NW_012132919.1:g.10810_10812dup, NW_012132919.1:g.10809_10812dup, NW_012132919.1:g.10808_10812dup, NW_012132919.1:g.10807_10812dup, NW_012132919.1:g.10806_10812dup, NW_012132919.1:g.10805_10812dup, NW_012132919.1:g.10804_10812dup, NW_012132919.1:g.10803_10812dup, NW_012132919.1:g.10802_10812dup, NW_012132919.1:g.10801_10812dup, NW_012132919.1:g.10800_10812dup, NW_012132919.1:g.10799_10812dup, NW_012132919.1:g.10798_10812dup, NW_012132919.1:g.10797_10812dup, NW_012132919.1:g.10796_10812dup, NW_012132919.1:g.10795_10812dup, NW_012132919.1:g.10794_10812dup, NW_012132919.1:g.10793_10812dup, NW_012132919.1:g.10791_10812dup, NW_012132919.1:g.10790_10812dup, NW_012132919.1:g.10788_10812dup, NW_012132919.1:g.10812_10813insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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