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1.

rs1491557778 has merged into rs56088658 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    1:165674329 (GRCh38)
    1:165643566 (GRCh37)
    Canonical SPDI:
    NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165674315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    ALDH9A1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.165674329_165674341del, NC_000001.11:g.165674330_165674341del, NC_000001.11:g.165674331_165674341del, NC_000001.11:g.165674333_165674341del, NC_000001.11:g.165674334_165674341del, NC_000001.11:g.165674335_165674341del, NC_000001.11:g.165674337_165674341del, NC_000001.11:g.165674338_165674341del, NC_000001.11:g.165674339_165674341del, NC_000001.11:g.165674340_165674341del, NC_000001.11:g.165674341del, NC_000001.11:g.165674341dup, NC_000001.11:g.165674340_165674341dup, NC_000001.11:g.165674339_165674341dup, NC_000001.11:g.165674338_165674341dup, NC_000001.11:g.165674334_165674341dup, NC_000001.11:g.165674332_165674341dup, NC_000001.10:g.165643566_165643578del, NC_000001.10:g.165643567_165643578del, NC_000001.10:g.165643568_165643578del, NC_000001.10:g.165643570_165643578del, NC_000001.10:g.165643571_165643578del, NC_000001.10:g.165643572_165643578del, NC_000001.10:g.165643574_165643578del, NC_000001.10:g.165643575_165643578del, NC_000001.10:g.165643576_165643578del, NC_000001.10:g.165643577_165643578del, NC_000001.10:g.165643578del, NC_000001.10:g.165643578dup, NC_000001.10:g.165643577_165643578dup, NC_000001.10:g.165643576_165643578dup, NC_000001.10:g.165643575_165643578dup, NC_000001.10:g.165643571_165643578dup, NC_000001.10:g.165643569_165643578dup, NG_012256.1:g.29336_29348del, NG_012256.1:g.29337_29348del, NG_012256.1:g.29338_29348del, NG_012256.1:g.29340_29348del, NG_012256.1:g.29341_29348del, NG_012256.1:g.29342_29348del, NG_012256.1:g.29344_29348del, NG_012256.1:g.29345_29348del, NG_012256.1:g.29346_29348del, NG_012256.1:g.29347_29348del, NG_012256.1:g.29348del, NG_012256.1:g.29348dup, NG_012256.1:g.29347_29348dup, NG_012256.1:g.29346_29348dup, NG_012256.1:g.29345_29348dup, NG_012256.1:g.29341_29348dup, NG_012256.1:g.29339_29348dup
    2.

    rs1491527950 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      1:165686508 (GRCh38)
      1:165655746 (GRCh37)
      Canonical SPDI:
      NC_000001.11:165686508::A
      Gene:
      ALDH9A1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      3.

      rs1491525673 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CG>- [Show Flanks]
        Chromosome:
        1:165673014 (GRCh38)
        1:165642251 (GRCh37)
        Canonical SPDI:
        NC_000001.11:165673013:CG:
        Gene:
        ALDH9A1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491450307 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          1:165677857 (GRCh38)
          1:165647094 (GRCh37)
          Canonical SPDI:
          NC_000001.11:165677856:CA:
          Gene:
          ALDH9A1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.00953/113 (ALFA)
          -=0.00007/2 (TOMMO)
          -=0.00075/47 (GnomAD)
          HGVS:
          5.

          rs1491350277 has merged into rs35531113 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            1:165677865 (GRCh38)
            1:165647102 (GRCh37)
            Canonical SPDI:
            NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165677857:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            ALDH9A1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAA=0./0 (ALFA)
            AAAAAAAAAAAAAAA=0./0 (GENOME_DK)
            HGVS:
            NC_000001.11:g.165677865_165677879del, NC_000001.11:g.165677871_165677879del, NC_000001.11:g.165677872_165677879del, NC_000001.11:g.165677873_165677879del, NC_000001.11:g.165677874_165677879del, NC_000001.11:g.165677875_165677879del, NC_000001.11:g.165677876_165677879del, NC_000001.11:g.165677877_165677879del, NC_000001.11:g.165677878_165677879del, NC_000001.11:g.165677879del, NC_000001.11:g.165677879dup, NC_000001.11:g.165677878_165677879dup, NC_000001.11:g.165677877_165677879dup, NC_000001.10:g.165647102_165647116del, NC_000001.10:g.165647108_165647116del, NC_000001.10:g.165647109_165647116del, NC_000001.10:g.165647110_165647116del, NC_000001.10:g.165647111_165647116del, NC_000001.10:g.165647112_165647116del, NC_000001.10:g.165647113_165647116del, NC_000001.10:g.165647114_165647116del, NC_000001.10:g.165647115_165647116del, NC_000001.10:g.165647116del, NC_000001.10:g.165647116dup, NC_000001.10:g.165647115_165647116dup, NC_000001.10:g.165647114_165647116dup, NG_012256.1:g.25792_25806del, NG_012256.1:g.25798_25806del, NG_012256.1:g.25799_25806del, NG_012256.1:g.25800_25806del, NG_012256.1:g.25801_25806del, NG_012256.1:g.25802_25806del, NG_012256.1:g.25803_25806del, NG_012256.1:g.25804_25806del, NG_012256.1:g.25805_25806del, NG_012256.1:g.25806del, NG_012256.1:g.25806dup, NG_012256.1:g.25805_25806dup, NG_012256.1:g.25804_25806dup
            6.

            rs1491337818 has merged into rs748997343 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
              Chromosome:
              1:165686515 (GRCh38)
              1:165655752 (GRCh37)
              Canonical SPDI:
              NC_000001.11:165686507:TTTTTTTTTTT:TTTTTTT,NC_000001.11:165686507:TTTTTTTTTTT:TTTTTTTT,NC_000001.11:165686507:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:165686507:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:165686507:TTTTTTTTTTT:TTTTTTTTTTTT
              Gene:
              ALDH9A1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTT=0./0 (ALFA)
              HGVS:
              7.

              rs1491215861 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                1:165674315 (GRCh38)
                1:165643552 (GRCh37)
                Canonical SPDI:
                NC_000001.11:165674314:TA:
                Gene:
                ALDH9A1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.00236/28 (ALFA)
                -=0.00004/1 (TOMMO)
                HGVS:
                8.

                rs1490892611 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:165684310 (GRCh38)
                  1:165653547 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:165684309:A:C
                  Gene:
                  ALDH9A1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490861570 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:165668743 (GRCh38)
                    1:165637980 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:165668742:A:G
                    Gene:
                    ALDH9A1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490829625 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      1:165686079 (GRCh38)
                      1:165655316 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:165686078:T:C,NC_000001.11:165686078:T:G
                      Gene:
                      ALDH9A1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490799639 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GAA,GAAAAGAA [Show Flanks]
                        Chromosome:
                        1:165688023 (GRCh38)
                        1:165657261 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:165688023:A:AGAA,NC_000001.11:165688023:A:AGAAAAGAA
                        Gene:
                        ALDH9A1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        AGA=0.00012/2 (TOMMO)
                        HGVS:
                        12.

                        rs1490692769 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GCTC>- [Show Flanks]
                          Chromosome:
                          1:165676596 (GRCh38)
                          1:165645833 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:165676594:CGCTC:C
                          Gene:
                          ALDH9A1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490643584 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:165677560 (GRCh38)
                            1:165646797 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:165677559:A:G
                            Gene:
                            ALDH9A1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1490618792 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:165692046 (GRCh38)
                              1:165661283 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:165692045:C:T
                              Gene:
                              ALDH9A1 (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:
                              15.

                              rs1490389141 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:165686052 (GRCh38)
                                1:165655289 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:165686051:G:A
                                Gene:
                                ALDH9A1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1490371277 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  1:165667667 (GRCh38)
                                  1:165636904 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:165667666:T:A,NC_000001.11:165667666:T:C
                                  Gene:
                                  ALDH9A1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490361740 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:165699413 (GRCh38)
                                    1:165668650 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:165699412:T:G
                                    Gene:
                                    ALDH9A1 (Varview), LOC440700 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490334878 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      1:165690438 (GRCh38)
                                      1:165659675 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:165690437:T:A
                                      Gene:
                                      ALDH9A1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490169769 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        1:165667153 (GRCh38)
                                        1:165636390 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:165667152:G:
                                        Gene:
                                        ALDH9A1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490131354 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          1:165668889 (GRCh38)
                                          1:165638126 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:165668888:T:G
                                          Gene:
                                          ALDH9A1 (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:

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