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Items: 1 to 20 of 809

1.

rs1489648832 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:32993401 (GRCh38)
    3:33034893 (GRCh37)
    Canonical SPDI:
    NC_000003.12:32993400:G:A
    Gene:
    GLB1 (Varview), LOC107986072 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1488553608 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:32994836 (GRCh38)
      3:33036328 (GRCh37)
      Canonical SPDI:
      NC_000003.12:32994835:G:A
      Gene:
      GLB1 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1488360700 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:32991443 (GRCh38)
        3:33032935 (GRCh37)
        Canonical SPDI:
        NC_000003.12:32991442:T:C
        Gene:
        GLB1 (Varview), LOC107986072 (Varview)
        Functional Consequence:
        downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1485112260 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:32992647 (GRCh38)
          3:33034139 (GRCh37)
          Canonical SPDI:
          NC_000003.12:32992646:T:C
          Gene:
          GLB1 (Varview), LOC107986072 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1484093762 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:32991614 (GRCh38)
            3:33033106 (GRCh37)
            Canonical SPDI:
            NC_000003.12:32991613:T:C
            Gene:
            GLB1 (Varview), LOC107986072 (Varview)
            Functional Consequence:
            downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1482855522 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CAAGTGAGTGAAGG>- [Show Flanks]
              Chromosome:
              3:32991776 (GRCh38)
              3:33033268 (GRCh37)
              Canonical SPDI:
              NC_000003.12:32991772:AGGCAAGTGAGTGAAGG:AGG
              Gene:
              GLB1 (Varview), LOC107986072 (Varview)
              Functional Consequence:
              downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              AGG=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1482757123 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                3:32994943 (GRCh38)
                3:33036436 (GRCh37)
                Canonical SPDI:
                NC_000003.12:32994943:A:AA
                Gene:
                GLB1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AA=0./0 (ALFA)
                A=0.000008/1 (GnomAD)
                A=0.000106/2 (TOMMO)
                A=0.001099/2 (Korea1K)
                HGVS:
                8.

                rs1480494299 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  3:32994360 (GRCh38)
                  3:33035852 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:32994359:T:G
                  Gene:
                  GLB1 (Varview), LOC107986072 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1478635141 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:32994342 (GRCh38)
                    3:33035834 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:32994341:C:T
                    Gene:
                    GLB1 (Varview), LOC107986072 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1478306990 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:32993870 (GRCh38)
                      3:33035362 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:32993869:T:C
                      Gene:
                      GLB1 (Varview), LOC107986072 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1477666119 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        T>G
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1477109371 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:32994838 (GRCh38)
                          3:33036330 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:32994837:T:C
                          Gene:
                          GLB1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1477001868 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            3:32994828 (GRCh38)
                            3:33036320 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:32994827:G:T
                            Gene:
                            GLB1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1475308615 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:32992142 (GRCh38)
                              3:33033634 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:32992141:A:G
                              Gene:
                              GLB1 (Varview), LOC107986072 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1474515131 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:32993683 (GRCh38)
                                3:33035175 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:32993682:T:C
                                Gene:
                                GLB1 (Varview), LOC107986072 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1473566187 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:32991837 (GRCh38)
                                  3:33033329 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:32991836:A:G
                                  Gene:
                                  GLB1 (Varview), LOC107986072 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,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:
                                  17.

                                  rs1473351376 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:32994514 (GRCh38)
                                    3:33036006 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:32994513:C:T
                                    Gene:
                                    GLB1 (Varview), LOC107986072 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1470508911 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:32991732 (GRCh38)
                                      3:33033224 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:32991731:C:T
                                      Gene:
                                      GLB1 (Varview), LOC107986072 (Varview)
                                      Functional Consequence:
                                      intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1469545917 has merged into rs56169200 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        3:32994929 (GRCh38)
                                        3:33036421 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:32994920:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        GLB1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAAA=0./0 (ALFA)
                                        AAAAAAAAAAAA=0.2107/1055 (1000Genomes)
                                        HGVS:
                                        NC_000003.12:g.32994929_32994942del, NC_000003.12:g.32994930_32994942del, NC_000003.12:g.32994931_32994942del, NC_000003.12:g.32994932_32994942del, NC_000003.12:g.32994933_32994942del, NC_000003.12:g.32994934_32994942del, NC_000003.12:g.32994935_32994942del, NC_000003.12:g.32994936_32994942del, NC_000003.12:g.32994937_32994942del, NC_000003.12:g.32994938_32994942del, NC_000003.12:g.32994939_32994942del, NC_000003.12:g.32994940_32994942del, NC_000003.12:g.32994941_32994942del, NC_000003.12:g.32994942del, NC_000003.12:g.32994942dup, NC_000003.12:g.32994941_32994942dup, NC_000003.12:g.32994940_32994942dup, NC_000003.12:g.32994939_32994942dup, NC_000003.12:g.32994938_32994942dup, NC_000003.12:g.32994937_32994942dup, NC_000003.12:g.32994932_32994942dup, NC_000003.12:g.32994942_32994943insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.33036421_33036434del, NC_000003.11:g.33036422_33036434del, NC_000003.11:g.33036423_33036434del, NC_000003.11:g.33036424_33036434del, NC_000003.11:g.33036425_33036434del, NC_000003.11:g.33036426_33036434del, NC_000003.11:g.33036427_33036434del, NC_000003.11:g.33036428_33036434del, NC_000003.11:g.33036429_33036434del, NC_000003.11:g.33036430_33036434del, NC_000003.11:g.33036431_33036434del, NC_000003.11:g.33036432_33036434del, NC_000003.11:g.33036433_33036434del, NC_000003.11:g.33036434del, NC_000003.11:g.33036434dup, NC_000003.11:g.33036433_33036434dup, NC_000003.11:g.33036432_33036434dup, NC_000003.11:g.33036431_33036434dup, NC_000003.11:g.33036430_33036434dup, NC_000003.11:g.33036429_33036434dup, NC_000003.11:g.33036424_33036434dup, NC_000003.11:g.33036434_33036435insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009005.1:g.107269_107282del, NG_009005.1:g.107270_107282del, NG_009005.1:g.107271_107282del, NG_009005.1:g.107272_107282del, NG_009005.1:g.107273_107282del, NG_009005.1:g.107274_107282del, NG_009005.1:g.107275_107282del, NG_009005.1:g.107276_107282del, NG_009005.1:g.107277_107282del, NG_009005.1:g.107278_107282del, NG_009005.1:g.107279_107282del, NG_009005.1:g.107280_107282del, NG_009005.1:g.107281_107282del, NG_009005.1:g.107282del, NG_009005.1:g.107282dup, NG_009005.1:g.107281_107282dup, NG_009005.1:g.107280_107282dup, NG_009005.1:g.107279_107282dup, NG_009005.1:g.107278_107282dup, NG_009005.1:g.107277_107282dup, NG_009005.1:g.107272_107282dup, NG_009005.1:g.107282_107283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        20.

                                        rs1469206107 has merged into rs746774682 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTTTTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                          Chromosome:
                                          3:32993531 (GRCh38)
                                          3:33035023 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:32993522:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                          Gene:
                                          GLB1 (Varview), LOC107986072 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTTT=0./0 (ALFA)
                                          TTTTTTTTTTT=0./0 (GENOME_DK)
                                          HGVS:
                                          NC_000003.12:g.32993531_32993551del, NC_000003.12:g.32993535_32993551del, NC_000003.12:g.32993536_32993551del, NC_000003.12:g.32993537_32993551del, NC_000003.12:g.32993538_32993551del, NC_000003.12:g.32993539_32993551del, NC_000003.12:g.32993540_32993551del, NC_000003.12:g.32993541_32993551del, NC_000003.12:g.32993542_32993551del, NC_000003.12:g.32993543_32993551del, NC_000003.12:g.32993544_32993551del, NC_000003.12:g.32993545_32993551del, NC_000003.12:g.32993546_32993551del, NC_000003.12:g.32993547_32993551del, NC_000003.12:g.32993548_32993551del, NC_000003.12:g.32993549_32993551del, NC_000003.12:g.32993550_32993551del, NC_000003.12:g.32993551del, NC_000003.12:g.32993551dup, NC_000003.12:g.32993550_32993551dup, NC_000003.12:g.32993549_32993551dup, NC_000003.12:g.32993548_32993551dup, NC_000003.12:g.32993547_32993551dup, NC_000003.12:g.32993546_32993551dup, NC_000003.12:g.32993545_32993551dup, NC_000003.12:g.32993544_32993551dup, NC_000003.12:g.32993543_32993551dup, NC_000003.12:g.32993536_32993551dup, NC_000003.11:g.33035023_33035043del, NC_000003.11:g.33035027_33035043del, NC_000003.11:g.33035028_33035043del, NC_000003.11:g.33035029_33035043del, NC_000003.11:g.33035030_33035043del, NC_000003.11:g.33035031_33035043del, NC_000003.11:g.33035032_33035043del, NC_000003.11:g.33035033_33035043del, NC_000003.11:g.33035034_33035043del, NC_000003.11:g.33035035_33035043del, NC_000003.11:g.33035036_33035043del, NC_000003.11:g.33035037_33035043del, NC_000003.11:g.33035038_33035043del, NC_000003.11:g.33035039_33035043del, NC_000003.11:g.33035040_33035043del, NC_000003.11:g.33035041_33035043del, NC_000003.11:g.33035042_33035043del, NC_000003.11:g.33035043del, NC_000003.11:g.33035043dup, NC_000003.11:g.33035042_33035043dup, NC_000003.11:g.33035041_33035043dup, NC_000003.11:g.33035040_33035043dup, NC_000003.11:g.33035039_33035043dup, NC_000003.11:g.33035038_33035043dup, NC_000003.11:g.33035037_33035043dup, NC_000003.11:g.33035036_33035043dup, NC_000003.11:g.33035035_33035043dup, NC_000003.11:g.33035028_33035043dup

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