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Items: 1 to 20 of 1000

1.

rs1491579078 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    22:24979194 (GRCh38)
    22:25375162 (GRCh37)
    Canonical SPDI:
    NC_000022.11:24979194:A:AA
    Gene:
    KIAA1671 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AA=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491569756 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      22:25129526 (GRCh38)
      22:25525493 (GRCh37)
      Canonical SPDI:
      NC_000022.11:25129523:CACA:CA
      Gene:
      KIAA1671 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CACA=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491564011 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        22:24988755 (GRCh38)
        22:25384723 (GRCh37)
        Canonical SPDI:
        NC_000022.11:24988755:T:TT
        Gene:
        KIAA1671 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TT=0./0 (ALFA)
        T=0.000023/3 (GnomAD)
        HGVS:
        4.

        rs1491560880 has merged into rs932233451 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          22:25000507 (GRCh38)
          22:25396474 (GRCh37)
          Canonical SPDI:
          NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          KIAA1671 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          5.

          rs1491551842 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            22:25000493 (GRCh38)
            22:25396461 (GRCh37)
            Canonical SPDI:
            NC_000022.11:25000493::G
            Gene:
            KIAA1671 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1491550963 has merged into rs759898395 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              22:25074505 (GRCh38)
              22:25470472 (GRCh37)
              Canonical SPDI:
              NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              KIAA1671 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000022.11:g.25074505_25074517del, NC_000022.11:g.25074506_25074517del, NC_000022.11:g.25074507_25074517del, NC_000022.11:g.25074508_25074517del, NC_000022.11:g.25074509_25074517del, NC_000022.11:g.25074510_25074517del, NC_000022.11:g.25074511_25074517del, NC_000022.11:g.25074512_25074517del, NC_000022.11:g.25074513_25074517del, NC_000022.11:g.25074514_25074517del, NC_000022.11:g.25074515_25074517del, NC_000022.11:g.25074516_25074517del, NC_000022.11:g.25074517del, NC_000022.11:g.25074517dup, NC_000022.11:g.25074516_25074517dup, NC_000022.11:g.25074515_25074517dup, NC_000022.11:g.25074514_25074517dup, NC_000022.11:g.25074513_25074517dup, NC_000022.11:g.25074512_25074517dup, NC_000022.11:g.25074511_25074517dup, NC_000022.11:g.25074510_25074517dup, NC_000022.11:g.25074509_25074517dup, NC_000022.11:g.25074517_25074518insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.25470472_25470484del, NC_000022.10:g.25470473_25470484del, NC_000022.10:g.25470474_25470484del, NC_000022.10:g.25470475_25470484del, NC_000022.10:g.25470476_25470484del, NC_000022.10:g.25470477_25470484del, NC_000022.10:g.25470478_25470484del, NC_000022.10:g.25470479_25470484del, NC_000022.10:g.25470480_25470484del, NC_000022.10:g.25470481_25470484del, NC_000022.10:g.25470482_25470484del, NC_000022.10:g.25470483_25470484del, NC_000022.10:g.25470484del, NC_000022.10:g.25470484dup, NC_000022.10:g.25470483_25470484dup, NC_000022.10:g.25470482_25470484dup, NC_000022.10:g.25470481_25470484dup, NC_000022.10:g.25470480_25470484dup, NC_000022.10:g.25470479_25470484dup, NC_000022.10:g.25470478_25470484dup, NC_000022.10:g.25470477_25470484dup, NC_000022.10:g.25470476_25470484dup, NC_000022.10:g.25470484_25470485insAAAAAAAAAAAAAAAAAAAAAAA
              7.

              rs1491550514 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                22:25169439 (GRCh38)
                22:25565407 (GRCh37)
                Canonical SPDI:
                NC_000022.11:25169439::T
                Gene:
                KIAA1671 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.00006/8 (GnomAD)
                T=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1491533419 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  22:24998346 (GRCh38)
                  22:25394314 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:24998346:GGGG:GGGGG
                  Gene:
                  KIAA1671 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGGGG=0.000071/1 (ALFA)
                  G=0.000049/13 (TOPMED)
                  G=0.00005/7 (GnomAD)
                  HGVS:
                  9.

                  rs1491532334 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->AAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    22:25129524 (GRCh38)
                    22:25525492 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:25129524:A:AAAAAAAAAAAA
                    Gene:
                    KIAA1671 (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:
                    10.

                    rs1491524742 has merged into rs951267618 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ATGTGTGTGTGT>-,ATGTGTGTGTGTATGTGTGTGTGT [Show Flanks]
                      Chromosome:
                      22:24985748 (GRCh38)
                      22:25381715 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:24985736:TGTGTGTGTGTATGTGTGTGTGT:TGTGTGTGTGT,NC_000022.11:24985736:TGTGTGTGTGTATGTGTGTGTGT:TGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGT
                      Gene:
                      KIAA1671 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGT=0./0 (ALFA)
                      -=0.000023/6 (TOPMED)
                      HGVS:
                      11.

                      rs1491511004 has merged into rs57822676 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        22:25156024 (GRCh38)
                        22:25551991 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        KIAA1671 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTT=0./0 (ALFA)
                        -=0.375/15 (GENOME_DK)
                        -=0.3974/1990 (1000Genomes)
                        HGVS:
                        NC_000022.11:g.25156024_25156039del, NC_000022.11:g.25156026_25156039del, NC_000022.11:g.25156027_25156039del, NC_000022.11:g.25156028_25156039del, NC_000022.11:g.25156029_25156039del, NC_000022.11:g.25156030_25156039del, NC_000022.11:g.25156031_25156039del, NC_000022.11:g.25156032_25156039del, NC_000022.11:g.25156033_25156039del, NC_000022.11:g.25156034_25156039del, NC_000022.11:g.25156035_25156039del, NC_000022.11:g.25156036_25156039del, NC_000022.11:g.25156037_25156039del, NC_000022.11:g.25156038_25156039del, NC_000022.11:g.25156039del, NC_000022.11:g.25156039dup, NC_000022.11:g.25156038_25156039dup, NC_000022.11:g.25156037_25156039dup, NC_000022.11:g.25156036_25156039dup, NC_000022.11:g.25156035_25156039dup, NC_000022.11:g.25156034_25156039dup, NC_000022.11:g.25156033_25156039dup, NC_000022.11:g.25156032_25156039dup, NC_000022.11:g.25156031_25156039dup, NC_000022.11:g.25156030_25156039dup, NC_000022.11:g.25156029_25156039dup, NC_000022.11:g.25156028_25156039dup, NC_000022.11:g.25156027_25156039dup, NC_000022.11:g.25156026_25156039dup, NC_000022.11:g.25156025_25156039dup, NC_000022.11:g.25156024_25156039dup, NC_000022.11:g.25156023_25156039dup, NC_000022.11:g.25156017_25156039dup, NC_000022.11:g.25156016_25156039dup, NC_000022.11:g.25156013_25156039dup, NC_000022.10:g.25551991_25552006del, NC_000022.10:g.25551993_25552006del, NC_000022.10:g.25551994_25552006del, NC_000022.10:g.25551995_25552006del, NC_000022.10:g.25551996_25552006del, NC_000022.10:g.25551997_25552006del, NC_000022.10:g.25551998_25552006del, NC_000022.10:g.25551999_25552006del, NC_000022.10:g.25552000_25552006del, NC_000022.10:g.25552001_25552006del, NC_000022.10:g.25552002_25552006del, NC_000022.10:g.25552003_25552006del, NC_000022.10:g.25552004_25552006del, NC_000022.10:g.25552005_25552006del, NC_000022.10:g.25552006del, NC_000022.10:g.25552006dup, NC_000022.10:g.25552005_25552006dup, NC_000022.10:g.25552004_25552006dup, NC_000022.10:g.25552003_25552006dup, NC_000022.10:g.25552002_25552006dup, NC_000022.10:g.25552001_25552006dup, NC_000022.10:g.25552000_25552006dup, NC_000022.10:g.25551999_25552006dup, NC_000022.10:g.25551998_25552006dup, NC_000022.10:g.25551997_25552006dup, NC_000022.10:g.25551996_25552006dup, NC_000022.10:g.25551995_25552006dup, NC_000022.10:g.25551994_25552006dup, NC_000022.10:g.25551993_25552006dup, NC_000022.10:g.25551992_25552006dup, NC_000022.10:g.25551991_25552006dup, NC_000022.10:g.25551990_25552006dup, NC_000022.10:g.25551984_25552006dup, NC_000022.10:g.25551983_25552006dup, NC_000022.10:g.25551980_25552006dup
                        12.

                        rs1491509004 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          ->TTG
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1491501736 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->GTCTCTCTCTCTCCCTCTCTCT [Show Flanks]
                            Chromosome:
                            22:25093839 (GRCh38)
                            22:25489807 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:25093839:CTCTCTCT:CTCTCTCTGTCTCTCTCTCTCCCTCTCTCT
                            Gene:
                            KIAA1671 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            HGVS:
                            14.

                            rs1491478619 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              22:24988735 (GRCh38)
                              22:25384702 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:24988734:CA:
                              Gene:
                              KIAA1671 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491477620 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                ->AGTG
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1491451435 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  22:24998346 (GRCh38)
                                  22:25394313 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:24998345:AG:
                                  Gene:
                                  KIAA1671 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  -=0.000036/5 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491448975 has merged into rs67802603 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ACACACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                                    Chromosome:
                                    22:25093703 (GRCh38)
                                    22:25489670 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                                    Gene:
                                    KIAA1671 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACACACACACACACACACAC=0./0 (ALFA)
                                    -=0.075/3 (GENOME_DK)
                                    HGVS:
                                    NC_000022.11:g.25093683AC[10], NC_000022.11:g.25093683AC[11], NC_000022.11:g.25093683AC[12], NC_000022.11:g.25093683AC[13], NC_000022.11:g.25093683AC[14], NC_000022.11:g.25093683AC[15], NC_000022.11:g.25093683AC[16], NC_000022.11:g.25093683AC[17], NC_000022.11:g.25093683AC[18], NC_000022.11:g.25093683AC[19], NC_000022.11:g.25093683AC[20], NC_000022.11:g.25093683AC[21], NC_000022.11:g.25093683AC[22], NC_000022.11:g.25093683AC[23], NC_000022.11:g.25093683AC[24], NC_000022.11:g.25093683AC[25], NC_000022.11:g.25093683AC[26], NC_000022.11:g.25093683AC[27], NC_000022.11:g.25093683AC[29], NC_000022.11:g.25093683AC[30], NC_000022.11:g.25093683AC[31], NC_000022.11:g.25093683AC[32], NC_000022.11:g.25093683AC[33], NC_000022.11:g.25093683AC[34], NC_000022.11:g.25093683AC[35], NC_000022.10:g.25489650AC[10], NC_000022.10:g.25489650AC[11], NC_000022.10:g.25489650AC[12], NC_000022.10:g.25489650AC[13], NC_000022.10:g.25489650AC[14], NC_000022.10:g.25489650AC[15], NC_000022.10:g.25489650AC[16], NC_000022.10:g.25489650AC[17], NC_000022.10:g.25489650AC[18], NC_000022.10:g.25489650AC[19], NC_000022.10:g.25489650AC[20], NC_000022.10:g.25489650AC[21], NC_000022.10:g.25489650AC[22], NC_000022.10:g.25489650AC[23], NC_000022.10:g.25489650AC[24], NC_000022.10:g.25489650AC[25], NC_000022.10:g.25489650AC[26], NC_000022.10:g.25489650AC[27], NC_000022.10:g.25489650AC[29], NC_000022.10:g.25489650AC[30], NC_000022.10:g.25489650AC[31], NC_000022.10:g.25489650AC[32], NC_000022.10:g.25489650AC[33], NC_000022.10:g.25489650AC[34], NC_000022.10:g.25489650AC[35]
                                    18.

                                    rs1491448914 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CT>- [Show Flanks]
                                      Chromosome:
                                      22:25165023 (GRCh38)
                                      22:25560990 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:25165021:TCT:T
                                      Gene:
                                      KIAA1671 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      -=0.000061/8 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491429146 has merged into rs555493516 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TT>-,TTTT [Show Flanks]
                                        Chromosome:
                                        22:24981092 (GRCh38)
                                        22:25377059 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:24981088:TTTTT:TTT,NC_000022.11:24981088:TTTTT:TTTTTTT
                                        Gene:
                                        KIAA1671 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTT=0.00697/108 (ALFA)
                                        -=0.00004/1 (TOMMO)
                                        -=0.01167/7 (NorthernSweden)
                                        -=0.01258/63 (1000Genomes)
                                        -=0.075/3 (GENOME_DK)
                                        HGVS:
                                        20.

                                        rs1491426033 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->GTCT
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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