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    Items: 1 to 20 of 9583

    1.

    rs1491256671 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      2:239796614 (GRCh38)
      2:240718308 (GRCh37)
      Canonical SPDI:
      NC_000002.12:239796612:ATA:A
      Gene:
      LOC150935 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.00051/6 (ALFA)
      -=0.00015/4 (TOMMO)
      HGVS:
      2.

      rs1491164414 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->GG
        Chromosome:
        no mapping
        Canonical SPDI:
        3.

        rs1491055754 has merged into rs56087916 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          2:239796626 (GRCh38)
          2:240718320 (GRCh37)
          Canonical SPDI:
          NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          LOC150935 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAA=0./0 (ALFA)
          -=0.3/12 (GENOME_DK)
          HGVS:
          NC_000002.12:g.239796626_239796642del, NC_000002.12:g.239796627_239796642del, NC_000002.12:g.239796628_239796642del, NC_000002.12:g.239796629_239796642del, NC_000002.12:g.239796630_239796642del, NC_000002.12:g.239796631_239796642del, NC_000002.12:g.239796632_239796642del, NC_000002.12:g.239796633_239796642del, NC_000002.12:g.239796634_239796642del, NC_000002.12:g.239796635_239796642del, NC_000002.12:g.239796636_239796642del, NC_000002.12:g.239796637_239796642del, NC_000002.12:g.239796638_239796642del, NC_000002.12:g.239796639_239796642del, NC_000002.12:g.239796640_239796642del, NC_000002.12:g.239796641_239796642del, NC_000002.12:g.239796642del, NC_000002.12:g.239796642dup, NC_000002.12:g.239796641_239796642dup, NC_000002.12:g.239796640_239796642dup, NC_000002.12:g.239796639_239796642dup, NC_000002.12:g.239796638_239796642dup, NC_000002.12:g.239796637_239796642dup, NC_000002.12:g.239796636_239796642dup, NC_000002.12:g.239796635_239796642dup, NC_000002.12:g.239796634_239796642dup, NC_000002.12:g.239796633_239796642dup, NC_000002.12:g.239796632_239796642dup, NC_000002.12:g.239796631_239796642dup, NC_000002.11:g.240718320_240718336del, NC_000002.11:g.240718321_240718336del, NC_000002.11:g.240718322_240718336del, NC_000002.11:g.240718323_240718336del, NC_000002.11:g.240718324_240718336del, NC_000002.11:g.240718325_240718336del, NC_000002.11:g.240718326_240718336del, NC_000002.11:g.240718327_240718336del, NC_000002.11:g.240718328_240718336del, NC_000002.11:g.240718329_240718336del, NC_000002.11:g.240718330_240718336del, NC_000002.11:g.240718331_240718336del, NC_000002.11:g.240718332_240718336del, NC_000002.11:g.240718333_240718336del, NC_000002.11:g.240718334_240718336del, NC_000002.11:g.240718335_240718336del, NC_000002.11:g.240718336del, NC_000002.11:g.240718336dup, NC_000002.11:g.240718335_240718336dup, NC_000002.11:g.240718334_240718336dup, NC_000002.11:g.240718333_240718336dup, NC_000002.11:g.240718332_240718336dup, NC_000002.11:g.240718331_240718336dup, NC_000002.11:g.240718330_240718336dup, NC_000002.11:g.240718329_240718336dup, NC_000002.11:g.240718328_240718336dup, NC_000002.11:g.240718327_240718336dup, NC_000002.11:g.240718326_240718336dup, NC_000002.11:g.240718325_240718336dup, NW_011332689.1:g.99723_99739del, NW_011332689.1:g.99724_99739del, NW_011332689.1:g.99725_99739del, NW_011332689.1:g.99726_99739del, NW_011332689.1:g.99727_99739del, NW_011332689.1:g.99728_99739del, NW_011332689.1:g.99729_99739del, NW_011332689.1:g.99730_99739del, NW_011332689.1:g.99731_99739del, NW_011332689.1:g.99732_99739del, NW_011332689.1:g.99733_99739del, NW_011332689.1:g.99734_99739del, NW_011332689.1:g.99735_99739del, NW_011332689.1:g.99736_99739del, NW_011332689.1:g.99737_99739del, NW_011332689.1:g.99738_99739del, NW_011332689.1:g.99739del, NW_011332689.1:g.99739dup, NW_011332689.1:g.99738_99739dup, NW_011332689.1:g.99737_99739dup, NW_011332689.1:g.99736_99739dup, NW_011332689.1:g.99735_99739dup, NW_011332689.1:g.99734_99739dup, NW_011332689.1:g.99733_99739dup, NW_011332689.1:g.99732_99739dup, NW_011332689.1:g.99731_99739dup, NW_011332689.1:g.99730_99739dup, NW_011332689.1:g.99729_99739dup, NW_011332689.1:g.99728_99739dup
          4.

          rs1490986204 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:239788142 (GRCh38)
            2:240709836 (GRCh37)
            Canonical SPDI:
            NC_000002.12:239788141:A:G
            Gene:
            LOC150935 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000029/4 (GnomAD)
            G=0.000038/10 (TOPMED)
            HGVS:
            5.

            rs1490980329 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              2:239789186 (GRCh38)
              2:240710880 (GRCh37)
              Canonical SPDI:
              NC_000002.12:239789185:C:G
              Gene:
              LOC150935 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              6.

              rs1490865985 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                2:239773987 (GRCh38)
                2:240695681 (GRCh37)
                Canonical SPDI:
                NC_000002.12:239773986:T:G
                Gene:
                LOC150935 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000021/3 (GnomAD)
                G=0.000026/7 (TOPMED)
                HGVS:
                7.

                rs1490849647 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:239774983 (GRCh38)
                  2:240696677 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:239774982:C:T
                  Gene:
                  LOC150935 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  8.

                  rs1490844855 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:239797724 (GRCh38)
                    2:240719418 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:239797723:T:C
                    Gene:
                    LOC150935 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    9.

                    rs1490727597 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AC>- [Show Flanks]
                      Chromosome:
                      2:239781255 (GRCh38)
                      2:240702949 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:239781250:ACACAC:ACAC
                      Gene:
                      LOC150935 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      ACAC=0.000071/1 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      10.

                      rs1490678817 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:239795907 (GRCh38)
                        2:240717601 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:239795906:A:G
                        Gene:
                        LOC150935 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/1 (GnomAD)
                        HGVS:
                        11.

                        rs1490626025 has merged into rs56087916 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          2:239796626 (GRCh38)
                          2:240718320 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:239796614:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          LOC150935 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAA=0./0 (ALFA)
                          -=0.3/12 (GENOME_DK)
                          HGVS:
                          NC_000002.12:g.239796626_239796642del, NC_000002.12:g.239796627_239796642del, NC_000002.12:g.239796628_239796642del, NC_000002.12:g.239796629_239796642del, NC_000002.12:g.239796630_239796642del, NC_000002.12:g.239796631_239796642del, NC_000002.12:g.239796632_239796642del, NC_000002.12:g.239796633_239796642del, NC_000002.12:g.239796634_239796642del, NC_000002.12:g.239796635_239796642del, NC_000002.12:g.239796636_239796642del, NC_000002.12:g.239796637_239796642del, NC_000002.12:g.239796638_239796642del, NC_000002.12:g.239796639_239796642del, NC_000002.12:g.239796640_239796642del, NC_000002.12:g.239796641_239796642del, NC_000002.12:g.239796642del, NC_000002.12:g.239796642dup, NC_000002.12:g.239796641_239796642dup, NC_000002.12:g.239796640_239796642dup, NC_000002.12:g.239796639_239796642dup, NC_000002.12:g.239796638_239796642dup, NC_000002.12:g.239796637_239796642dup, NC_000002.12:g.239796636_239796642dup, NC_000002.12:g.239796635_239796642dup, NC_000002.12:g.239796634_239796642dup, NC_000002.12:g.239796633_239796642dup, NC_000002.12:g.239796632_239796642dup, NC_000002.12:g.239796631_239796642dup, NC_000002.11:g.240718320_240718336del, NC_000002.11:g.240718321_240718336del, NC_000002.11:g.240718322_240718336del, NC_000002.11:g.240718323_240718336del, NC_000002.11:g.240718324_240718336del, NC_000002.11:g.240718325_240718336del, NC_000002.11:g.240718326_240718336del, NC_000002.11:g.240718327_240718336del, NC_000002.11:g.240718328_240718336del, NC_000002.11:g.240718329_240718336del, NC_000002.11:g.240718330_240718336del, NC_000002.11:g.240718331_240718336del, NC_000002.11:g.240718332_240718336del, NC_000002.11:g.240718333_240718336del, NC_000002.11:g.240718334_240718336del, NC_000002.11:g.240718335_240718336del, NC_000002.11:g.240718336del, NC_000002.11:g.240718336dup, NC_000002.11:g.240718335_240718336dup, NC_000002.11:g.240718334_240718336dup, NC_000002.11:g.240718333_240718336dup, NC_000002.11:g.240718332_240718336dup, NC_000002.11:g.240718331_240718336dup, NC_000002.11:g.240718330_240718336dup, NC_000002.11:g.240718329_240718336dup, NC_000002.11:g.240718328_240718336dup, NC_000002.11:g.240718327_240718336dup, NC_000002.11:g.240718326_240718336dup, NC_000002.11:g.240718325_240718336dup, NW_011332689.1:g.99723_99739del, NW_011332689.1:g.99724_99739del, NW_011332689.1:g.99725_99739del, NW_011332689.1:g.99726_99739del, NW_011332689.1:g.99727_99739del, NW_011332689.1:g.99728_99739del, NW_011332689.1:g.99729_99739del, NW_011332689.1:g.99730_99739del, NW_011332689.1:g.99731_99739del, NW_011332689.1:g.99732_99739del, NW_011332689.1:g.99733_99739del, NW_011332689.1:g.99734_99739del, NW_011332689.1:g.99735_99739del, NW_011332689.1:g.99736_99739del, NW_011332689.1:g.99737_99739del, NW_011332689.1:g.99738_99739del, NW_011332689.1:g.99739del, NW_011332689.1:g.99739dup, NW_011332689.1:g.99738_99739dup, NW_011332689.1:g.99737_99739dup, NW_011332689.1:g.99736_99739dup, NW_011332689.1:g.99735_99739dup, NW_011332689.1:g.99734_99739dup, NW_011332689.1:g.99733_99739dup, NW_011332689.1:g.99732_99739dup, NW_011332689.1:g.99731_99739dup, NW_011332689.1:g.99730_99739dup, NW_011332689.1:g.99729_99739dup, NW_011332689.1:g.99728_99739dup
                          12.

                          rs1490576804 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:239768651 (GRCh38)
                            2:240690345 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:239768650:C:T
                            Gene:
                            LOC150935 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000011/3 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            13.

                            rs1490563182 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:239781679 (GRCh38)
                              2:240703373 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:239781678:C:T
                              Gene:
                              LOC150935 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000023/6 (TOPMED)
                              T=0.000029/4 (GnomAD)
                              HGVS:
                              14.

                              rs1490549951 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:239795439 (GRCh38)
                                2:240717133 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:239795438:T:C
                                Gene:
                                LOC150935 (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.

                                rs1490508594 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  2:239782428 (GRCh38)
                                  2:240704122 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:239782427:A:
                                  Gene:
                                  LOC150935 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  HGVS:
                                  16.

                                  rs1490293497 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    2:239785664 (GRCh38)
                                    2:240707358 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:239785663:A:C
                                    Gene:
                                    LOC150935 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    17.

                                    rs1490286748 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:239768936 (GRCh38)
                                      2:240690630 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:239768935:T:C
                                      Gene:
                                      LOC150935 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      18.

                                      rs1490255420 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:239790506 (GRCh38)
                                        2:240712200 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:239790505:T:C
                                        Gene:
                                        LOC150935 (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:
                                        19.

                                        rs1490156884 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:239800775 (GRCh38)
                                          2:240722469 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:239800774:G:A
                                          Gene:
                                          LOC150935 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000023/6 (TOPMED)
                                          HGVS:
                                          20.

                                          rs1490072680 [Homo sapiens]
                                            Variant type:
                                            SNV
                                            Alleles:
                                            G>A [Show Flanks]
                                            Chromosome:
                                            2:239768233 (GRCh38)
                                            2:240689927 (GRCh37)
                                            Canonical SPDI:
                                            NC_000002.12:239768232:G:A
                                            Gene:
                                            LOC150935 (Varview)
                                            Functional Consequence:
                                            intron_variant
                                            Validated:
                                            by frequency,by alfa,by cluster
                                            MAF:
                                            A=0./0 (ALFA)
                                            A=0.000011/3 (TOPMED)
                                            A=0.000029/4 (GnomAD)
                                            HGVS:

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