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1.

rs1491584817 has merged into rs34729181 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    9:130290874 (GRCh38)
    9:133053153 (GRCh37)
    Canonical SPDI:
    NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130290862:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    HMCN2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    -=0.1819/701 (ALSPAC)
    HGVS:
    NC_000009.12:g.130290874_130290880del, NC_000009.12:g.130290875_130290880del, NC_000009.12:g.130290878_130290880del, NC_000009.12:g.130290879_130290880del, NC_000009.12:g.130290880del, NC_000009.12:g.130290880dup, NC_000009.12:g.130290879_130290880dup, NC_000009.12:g.130290878_130290880dup, NC_000009.12:g.130290876_130290880dup, NC_000009.12:g.130290875_130290880dup, NC_000009.12:g.130290874_130290880dup, NC_000009.12:g.130290873_130290880dup, NC_000009.12:g.130290872_130290880dup, NC_000009.12:g.130290880_130290881insAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.133053153_133053159del, NC_000009.11:g.133053154_133053159del, NC_000009.11:g.133053157_133053159del, NC_000009.11:g.133053158_133053159del, NC_000009.11:g.133053159del, NC_000009.11:g.133053159dup, NC_000009.11:g.133053158_133053159dup, NC_000009.11:g.133053157_133053159dup, NC_000009.11:g.133053155_133053159dup, NC_000009.11:g.133053154_133053159dup, NC_000009.11:g.133053153_133053159dup, NC_000009.11:g.133053152_133053159dup, NC_000009.11:g.133053151_133053159dup, NC_000009.11:g.133053159_133053160insAAAAAAAAAAAAAAAAAAAAAAA, NW_004070869.1:g.160304_160310del, NW_004070869.1:g.160305_160310del, NW_004070869.1:g.160308_160310del, NW_004070869.1:g.160309_160310del, NW_004070869.1:g.160310del, NW_004070869.1:g.160310dup, NW_004070869.1:g.160309_160310dup, NW_004070869.1:g.160308_160310dup, NW_004070869.1:g.160306_160310dup, NW_004070869.1:g.160305_160310dup, NW_004070869.1:g.160304_160310dup, NW_004070869.1:g.160303_160310dup, NW_004070869.1:g.160302_160310dup, NW_004070869.1:g.160310_160311insAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491568403 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->AAT,AATGGATAGATGGATA [Show Flanks]
      Chromosome:
      9:130373595 (GRCh38)
      9:133248983 (GRCh37)
      Canonical SPDI:
      NC_000009.12:130373595::AAT,NC_000009.12:130373595::AATGGATAGATGGATA
      Gene:
      HMCN2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AATGGATAGATGGATA=0./0 (ALFA)
      AAT=0.01167/7 (NorthernSweden)
      HGVS:
      3.

      rs1491564184 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TAA [Show Flanks]
        Chromosome:
        9:130342053 (GRCh38)
        9:-1 (GRCh37)
        Canonical SPDI:
        NC_000009.12:130342053:AATAA:AATAATAA
        Gene:
        HMCN2 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AATAATAA=0./0 (ALFA)
        AAT=0.00003/4 (GnomAD)
        HGVS:
        4.

        rs1491546495 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          9:130363931 (GRCh38)
          9:133239318 (GRCh37)
          Canonical SPDI:
          NC_000009.12:130363930:AA:
          Gene:
          HMCN2 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.00003/4 (GnomAD)
          HGVS:
          5.

          rs1491545716 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->ATATT,ATT,ATTT [Show Flanks]
            Chromosome:
            9:130424169 (GRCh38)
            9:133299557 (GRCh37)
            Canonical SPDI:
            NC_000009.12:130424169:T:TATATT,NC_000009.12:130424169:T:TATT,NC_000009.12:130424169:T:TATTT
            Gene:
            HMCN2 (Varview), LOC107987134 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TATT=0./0 (ALFA)
            HGVS:
            6.

            rs1491544800 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->TG [Show Flanks]
              Chromosome:
              9:130267477 (GRCh38)
              9:133029757 (GRCh37)
              Canonical SPDI:
              NC_000009.12:130267477:G:GTG
              Gene:
              HMCN2 (Varview), LOC124902285 (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              GTG=0./0 (ALFA)
              GT=0./0 (GnomAD)
              HGVS:
              7.

              rs1491540406 has merged into rs143190808 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                9:130309523 (GRCh38)
                9:133071802 (GRCh37)
                Canonical SPDI:
                NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130309514:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                HMCN2 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAA=0./0 (ALFA)
                -=0.000011/3 (TOPMED)
                -=0.220447/1104 (1000Genomes)
                -=0.425/17 (GENOME_DK)
                HGVS:
                NC_000009.12:g.130309523_130309537del, NC_000009.12:g.130309525_130309537del, NC_000009.12:g.130309526_130309537del, NC_000009.12:g.130309527_130309537del, NC_000009.12:g.130309528_130309537del, NC_000009.12:g.130309529_130309537del, NC_000009.12:g.130309530_130309537del, NC_000009.12:g.130309531_130309537del, NC_000009.12:g.130309532_130309537del, NC_000009.12:g.130309533_130309537del, NC_000009.12:g.130309534_130309537del, NC_000009.12:g.130309535_130309537del, NC_000009.12:g.130309536_130309537del, NC_000009.12:g.130309537del, NC_000009.12:g.130309537dup, NC_000009.12:g.130309536_130309537dup, NC_000009.12:g.130309535_130309537dup, NC_000009.12:g.130309533_130309537dup, NC_000009.12:g.130309531_130309537dup, NC_000009.12:g.130309528_130309537dup, NC_000009.12:g.130309521_130309537dup, NC_000009.11:g.133071802_133071816del, NC_000009.11:g.133071804_133071816del, NC_000009.11:g.133071805_133071816del, NC_000009.11:g.133071806_133071816del, NC_000009.11:g.133071807_133071816del, NC_000009.11:g.133071808_133071816del, NC_000009.11:g.133071809_133071816del, NC_000009.11:g.133071810_133071816del, NC_000009.11:g.133071811_133071816del, NC_000009.11:g.133071812_133071816del, NC_000009.11:g.133071813_133071816del, NC_000009.11:g.133071814_133071816del, NC_000009.11:g.133071815_133071816del, NC_000009.11:g.133071816del, NC_000009.11:g.133071816dup, NC_000009.11:g.133071815_133071816dup, NC_000009.11:g.133071814_133071816dup, NC_000009.11:g.133071812_133071816dup, NC_000009.11:g.133071810_133071816dup, NC_000009.11:g.133071807_133071816dup, NC_000009.11:g.133071800_133071816dup, NW_004070869.1:g.178953_178967del, NW_004070869.1:g.178955_178967del, NW_004070869.1:g.178956_178967del, NW_004070869.1:g.178957_178967del, NW_004070869.1:g.178958_178967del, NW_004070869.1:g.178959_178967del, NW_004070869.1:g.178960_178967del, NW_004070869.1:g.178961_178967del, NW_004070869.1:g.178962_178967del, NW_004070869.1:g.178963_178967del, NW_004070869.1:g.178964_178967del, NW_004070869.1:g.178965_178967del, NW_004070869.1:g.178966_178967del, NW_004070869.1:g.178967del, NW_004070869.1:g.178967dup, NW_004070869.1:g.178966_178967dup, NW_004070869.1:g.178965_178967dup, NW_004070869.1:g.178963_178967dup, NW_004070869.1:g.178961_178967dup, NW_004070869.1:g.178958_178967dup, NW_004070869.1:g.178951_178967dup
                8.

                rs1491530163 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->TTTA,TTTAAGCG,TTTTA [Show Flanks]
                  Chromosome:
                  9:130420089 (GRCh38)
                  9:133295477 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:130420089::TTTA,NC_000009.12:130420089::TTTAAGCG,NC_000009.12:130420089::TTTTA
                  Gene:
                  HMCN2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTA=0./0 (ALFA)
                  TTTA=0.00007/2 (TOMMO)
                  HGVS:
                  9.

                  rs1491515124 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    9:130417521 (GRCh38)
                    9:133292908 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:130417520:CA:
                    Gene:
                    HMCN2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00067/8 (ALFA)
                    HGVS:
                    10.

                    rs1491507743 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      AT>- [Show Flanks]
                      Chromosome:
                      9:130404631 (GRCh38)
                      9:133280018 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:130404630:AT:
                      Gene:
                      HMCN2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1491433757 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        9:130309514 (GRCh38)
                        9:133071793 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:130309513:CA:
                        Gene:
                        HMCN2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0.00042/5 (ALFA)
                        -=0.00066/16 (TOMMO)
                        HGVS:
                        12.

                        rs1491429157 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          9:130290862 (GRCh38)
                          9:133053141 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:130290861:GA:
                          Gene:
                          HMCN2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.00039/11 (TOMMO)
                          HGVS:
                          13.

                          rs1491428454 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TG>- [Show Flanks]
                            Chromosome:
                            9:130420089 (GRCh38)
                            9:133295476 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:130420088:TG:
                            Gene:
                            HMCN2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.000169/2 (ALFA)
                            -=0.000024/3 (GnomAD)
                            HGVS:
                            14.

                            rs1491421331 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CT [Show Flanks]
                              Chromosome:
                              9:130325097 (GRCh38)
                              9:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:130325097:T:TCT
                              Gene:
                              HMCN2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCT=0.00025/3 (ALFA)
                              TC=0.00055/15 (TOMMO)
                              TC=0.00118/7 (GnomAD)
                              HGVS:
                              15.

                              rs1491396135 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GT>- [Show Flanks]
                                Chromosome:
                                9:130345336 (GRCh38)
                                9:8 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:130345326:TGTGTGTGTGT:TGTGTGTGT
                                Gene:
                                HMCN2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TGTGTGTGT=0./0 (ALFA)
                                -=0.000139/14 (GnomAD)
                                HGVS:
                                16.

                                rs1491363429 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->G [Show Flanks]
                                  Chromosome:
                                  9:130416101 (GRCh38)
                                  9:133291489 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:130416101::G
                                  Gene:
                                  HMCN2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.00017/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491343071 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    9:130399250 (GRCh38)
                                    9:133274637 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:130399249:CA:
                                    Gene:
                                    HMCN2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491301957 has merged into rs57296543 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
                                      Chromosome:
                                      9:130424179 (GRCh38)
                                      9:133299566 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:130424169:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
                                      Gene:
                                      HMCN2 (Varview), LOC107987134 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000009.12:g.130424179_130424183del, NC_000009.12:g.130424180_130424183del, NC_000009.12:g.130424181_130424183del, NC_000009.12:g.130424182_130424183del, NC_000009.12:g.130424183del, NC_000009.12:g.130424183dup, NC_000009.12:g.130424182_130424183dup, NC_000009.12:g.130424181_130424183dup, NC_000009.11:g.133299566_133299570del, NC_000009.11:g.133299567_133299570del, NC_000009.11:g.133299568_133299570del, NC_000009.11:g.133299569_133299570del, NC_000009.11:g.133299570del, NC_000009.11:g.133299570dup, NC_000009.11:g.133299569_133299570dup, NC_000009.11:g.133299568_133299570dup, XR_007061816.1:n.1167_1171del, XR_007061816.1:n.1168_1171del, XR_007061816.1:n.1169_1171del, XR_007061816.1:n.1170_1171del, XR_007061816.1:n.1171del, XR_007061816.1:n.1171dup, XR_007061816.1:n.1170_1171dup, XR_007061816.1:n.1169_1171dup
                                      19.

                                      rs1491299604 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GTGTGTGTG [Show Flanks]
                                        Chromosome:
                                        9:130345327 (GRCh38)
                                        9:-1 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:130345327:GTGTGTGTG:GTGTGTGTGGTGTGTGTG
                                        Gene:
                                        HMCN2 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GTGTGTGTGGTGTGTGTG=0./0 (ALFA)
                                        GTGTGTGTG=0.000024/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491262430 has merged into rs397893236 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          9:130417534 (GRCh38)
                                          9:133292921 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:130417521:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          HMCN2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAAAAAA=0./0 (ALFA)
                                          HGVS:
                                          NC_000009.12:g.130417534_130417537del, NC_000009.12:g.130417535_130417537del, NC_000009.12:g.130417536_130417537del, NC_000009.12:g.130417537del, NC_000009.12:g.130417537dup, NC_000009.12:g.130417536_130417537dup, NC_000009.12:g.130417535_130417537dup, NC_000009.12:g.130417534_130417537dup, NC_000009.12:g.130417533_130417537dup, NC_000009.12:g.130417532_130417537dup, NC_000009.12:g.130417528_130417537dup, NC_000009.11:g.133292921_133292924del, NC_000009.11:g.133292922_133292924del, NC_000009.11:g.133292923_133292924del, NC_000009.11:g.133292924del, NC_000009.11:g.133292924dup, NC_000009.11:g.133292923_133292924dup, NC_000009.11:g.133292922_133292924dup, NC_000009.11:g.133292921_133292924dup, NC_000009.11:g.133292920_133292924dup, NC_000009.11:g.133292919_133292924dup, NC_000009.11:g.133292915_133292924dup

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