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Items: 1 to 20 of 9143

1.

rs1491554578 has merged into rs34021337 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA [Show Flanks]
    Chromosome:
    3:186455909 (GRCh38)
    3:186173698 (GRCh37)
    Canonical SPDI:
    NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:186455889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA
    Gene:
    LINC02052 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACACACACACACACACACACA=0./0 (ALFA)
    -=0.06305/243 (ALSPAC)
    -=0.13099/656 (1000Genomes)
    HGVS:
    NC_000003.12:g.186455891CA[9], NC_000003.12:g.186455891CA[10], NC_000003.12:g.186455891CA[11], NC_000003.12:g.186455891CA[12], NC_000003.12:g.186455891CA[13], NC_000003.12:g.186455891CA[14], NC_000003.12:g.186455891CA[15], NC_000003.12:g.186455891CA[16], NC_000003.12:g.186455891CA[17], NC_000003.12:g.186455891CA[19], NC_000003.12:g.186455891CA[20], NC_000003.12:g.186455891CA[21], NC_000003.12:g.186455891CA[22], NC_000003.12:g.186455891CA[23], NC_000003.12:g.186455891CA[24], NC_000003.11:g.186173680CA[9], NC_000003.11:g.186173680CA[10], NC_000003.11:g.186173680CA[11], NC_000003.11:g.186173680CA[12], NC_000003.11:g.186173680CA[13], NC_000003.11:g.186173680CA[14], NC_000003.11:g.186173680CA[15], NC_000003.11:g.186173680CA[16], NC_000003.11:g.186173680CA[17], NC_000003.11:g.186173680CA[19], NC_000003.11:g.186173680CA[20], NC_000003.11:g.186173680CA[21], NC_000003.11:g.186173680CA[22], NC_000003.11:g.186173680CA[23], NC_000003.11:g.186173680CA[24]
    2.

    rs1491497333 has merged into rs745483183 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,A,AAA,AAAAA [Show Flanks]
      Chromosome:
      3:186486500 (GRCh38)
      3:186204289 (GRCh37)
      Canonical SPDI:
      NC_000003.12:186486498:AAA:A,NC_000003.12:186486498:AAA:AA,NC_000003.12:186486498:AAA:AAAA,NC_000003.12:186486498:AAA:AAAAAA
      Gene:
      LINC02052 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      AAA=0.00285/11 (ALSPAC)
      AAA=0.00351/13 (TWINSUK)
      A=0.01143/191 (TOMMO)
      HGVS:
      3.

      rs1491490208 has merged into rs57714874 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G,GAAGG [Show Flanks]
        Chromosome:
        3:186486493 (GRCh38)
        3:186204283 (GRCh37)
        Canonical SPDI:
        NC_000003.12:186486493:G:GG,NC_000003.12:186486493:G:GGAAGG
        Gene:
        LINC02052 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0./0 (ALFA)
        G=0.00055/1 (Korea1K)
        G=0.00229/38 (TOMMO)
        G=0.03695/137 (TWINSUK)
        G=0.03762/145 (ALSPAC)
        HGVS:
        4.

        rs1491480354 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GA>-,GAGAGAGAGAGAGAGA [Show Flanks]
          Chromosome:
          3:186486442 (GRCh38)
          3:186204231 (GRCh37)
          Canonical SPDI:
          NC_000003.12:186486440:AGA:A,NC_000003.12:186486440:AGA:AGAGAGAGAGAGAGAGA
          Gene:
          LINC02052 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.0016/19 (ALFA)
          AGAGAGAGAGAGAG=0.00019/3 (TOMMO)
          -=0.00208/40 (GnomAD)
          HGVS:
          5.

          rs1491449828 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GAAG [Show Flanks]
            Chromosome:
            3:186486499 (GRCh38)
            3:186204289 (GRCh37)
            Canonical SPDI:
            NC_000003.12:186486499:AAG:AAGGAAG
            Gene:
            LINC02052 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            AAGGAAG=0./0 (ALFA)
            AAGG=0.00002/2 (GnomAD)
            HGVS:
            6.

            rs1491441071 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GG>- [Show Flanks]
              Chromosome:
              3:186486506 (GRCh38)
              3:186204295 (GRCh37)
              Canonical SPDI:
              NC_000003.12:186486505:GG:
              Gene:
              LINC02052 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency
              MAF:
              -=0.000023/3 (GnomAD)
              HGVS:
              7.

              rs1491410197 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                3:186486486 (GRCh38)
                3:186204275 (GRCh37)
                Canonical SPDI:
                NC_000003.12:186486484:AGA:A
                Gene:
                LINC02052 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1491402226 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AGAA>-,AGAAAGAA [Show Flanks]
                  Chromosome:
                  3:186486510 (GRCh38)
                  3:186204299 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:186486506:GAAAGAA:GAA,NC_000003.12:186486506:GAAAGAA:GAAAGAAAGAA
                  Gene:
                  LINC02052 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GAAAGAAAGAA=0.00034/4 (ALFA)
                  HGVS:
                  9.

                  rs1491375353 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    GA>- [Show Flanks]
                    Chromosome:
                    3:186475382 (GRCh38)
                    3:186193171 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:186475381:GA:
                    Gene:
                    LINC02052 (Varview), LINC02051 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491341095 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->G,GAAGG [Show Flanks]
                      Chromosome:
                      3:186486489 (GRCh38)
                      3:186204279 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:186486489:G:GG,NC_000003.12:186486489:G:GGAAGG
                      Gene:
                      LINC02052 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GG=0./0 (ALFA)
                      G=0.00377/63 (TOMMO)
                      G=0.00437/8 (Korea1K)
                      HGVS:
                      11.

                      rs1491285466 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GA>- [Show Flanks]
                        Chromosome:
                        3:186486494 (GRCh38)
                        3:186204283 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:186486492:AGA:A
                        Gene:
                        LINC02052 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.00008/1 (ALFA)
                        HGVS:
                        12.

                        rs1491245793 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          3:186494649 (GRCh38)
                          3:186212438 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:186494648:CA:
                          Gene:
                          LINC02052 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.00497/59 (ALFA)
                          -=0.00181/62 (GnomAD)
                          HGVS:
                          13.

                          rs1491197640 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            3:186486490 (GRCh38)
                            3:186204279 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:186486488:AGA:A
                            Gene:
                            LINC02052 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491154441 has merged into rs58063594 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
                              Chromosome:
                              3:186475396 (GRCh38)
                              3:186193185 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:186475382:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:186475382:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:186475382:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:186475382:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:186475382:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:186475382:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
                              Gene:
                              LINC02052 (Varview), LINC02051 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAA=0./0 (ALFA)
                              A=0.3361/1683 (1000Genomes)
                              HGVS:
                              15.

                              rs1491147896 has merged into rs143542205 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GT>-,GTGT [Show Flanks]
                                Chromosome:
                                3:186485882 (GRCh38)
                                3:186203671 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:186485880:TGT:T,NC_000003.12:186485880:TGT:TGTGT
                                Gene:
                                LINC02052 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TGTGT=0./0 (ALFA)
                                -=0.1557/1545 (TOMMO)
                                -=0.425/17 (GENOME_DK)
                                -=0.439/223 (NorthernSweden)
                                -=0.4819/3086 (1000Genomes)
                                HGVS:
                                16.

                                rs1491147687 has merged into rs4012487 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  3:186494659 (GRCh38)
                                  3:186212448 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186494649:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  LINC02052 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAA=0./0 (ALFA)
                                  AA=0.0956/479 (1000Genomes)
                                  HGVS:
                                  NC_000003.12:g.186494659_186494667del, NC_000003.12:g.186494662_186494667del, NC_000003.12:g.186494663_186494667del, NC_000003.12:g.186494664_186494667del, NC_000003.12:g.186494665_186494667del, NC_000003.12:g.186494666_186494667del, NC_000003.12:g.186494667del, NC_000003.12:g.186494667dup, NC_000003.12:g.186494666_186494667dup, NC_000003.12:g.186494664_186494667dup, NC_000003.12:g.186494663_186494667dup, NC_000003.12:g.186494662_186494667dup, NC_000003.12:g.186494660_186494667dup, NC_000003.12:g.186494659_186494667dup, NC_000003.12:g.186494658_186494667dup, NC_000003.12:g.186494657_186494667dup, NC_000003.12:g.186494656_186494667dup, NC_000003.11:g.186212448_186212456del, NC_000003.11:g.186212451_186212456del, NC_000003.11:g.186212452_186212456del, NC_000003.11:g.186212453_186212456del, NC_000003.11:g.186212454_186212456del, NC_000003.11:g.186212455_186212456del, NC_000003.11:g.186212456del, NC_000003.11:g.186212456dup, NC_000003.11:g.186212455_186212456dup, NC_000003.11:g.186212453_186212456dup, NC_000003.11:g.186212452_186212456dup, NC_000003.11:g.186212451_186212456dup, NC_000003.11:g.186212449_186212456dup, NC_000003.11:g.186212448_186212456dup, NC_000003.11:g.186212447_186212456dup, NC_000003.11:g.186212446_186212456dup, NC_000003.11:g.186212445_186212456dup
                                  17.

                                  rs1491127498 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    3:186486441 (GRCh38)
                                    3:186204231 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:186486441:G:GG
                                    Gene:
                                    LINC02052 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GG=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491114613 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->G [Show Flanks]
                                      Chromosome:
                                      3:186486485 (GRCh38)
                                      3:186204275 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:186486485:G:GG
                                      Gene:
                                      LINC02052 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0./0 (ALFA)
                                      G=0.000041/1 (TOMMO)
                                      G=0.000546/1 (Korea1K)
                                      G=0.011667/7 (NorthernSweden)
                                      G=0.013476/1659 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491072393 has merged into rs56096041 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        3:186480530 (GRCh38)
                                        3:186198319 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186480522:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        LINC02052 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAAAAAAA=0./0 (ALFA)
                                        -=0.3281/1643 (1000Genomes)
                                        HGVS:
                                        NC_000003.12:g.186480530_186480541del, NC_000003.12:g.186480536_186480541del, NC_000003.12:g.186480537_186480541del, NC_000003.12:g.186480538_186480541del, NC_000003.12:g.186480539_186480541del, NC_000003.12:g.186480540_186480541del, NC_000003.12:g.186480541del, NC_000003.12:g.186480541dup, NC_000003.12:g.186480540_186480541dup, NC_000003.12:g.186480539_186480541dup, NC_000003.12:g.186480538_186480541dup, NC_000003.12:g.186480537_186480541dup, NC_000003.11:g.186198319_186198330del, NC_000003.11:g.186198325_186198330del, NC_000003.11:g.186198326_186198330del, NC_000003.11:g.186198327_186198330del, NC_000003.11:g.186198328_186198330del, NC_000003.11:g.186198329_186198330del, NC_000003.11:g.186198330del, NC_000003.11:g.186198330dup, NC_000003.11:g.186198329_186198330dup, NC_000003.11:g.186198328_186198330dup, NC_000003.11:g.186198327_186198330dup, NC_000003.11:g.186198326_186198330dup
                                        20.

                                        rs1491061589 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->G [Show Flanks]
                                          Chromosome:
                                          3:186475398 (GRCh38)
                                          3:186193188 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:186475398::G
                                          Gene:
                                          LINC02052 (Varview), LINC02051 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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