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Items: 1 to 20 of 13298

1.

rs1491575461 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    9:127502686 (GRCh38)
    9:130264965 (GRCh37)
    Canonical SPDI:
    NC_000009.12:127502685:CA:
    Gene:
    LRSAM1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491566663 has merged into rs34459766 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      9:127456171 (GRCh38)
      9:130218450 (GRCh37)
      Canonical SPDI:
      NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127456162:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LRSAM1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAA=0./0 (ALFA)
      AA=0.4617/2312 (1000Genomes)
      HGVS:
      NC_000009.12:g.127456171_127456182del, NC_000009.12:g.127456174_127456182del, NC_000009.12:g.127456175_127456182del, NC_000009.12:g.127456176_127456182del, NC_000009.12:g.127456179_127456182del, NC_000009.12:g.127456180_127456182del, NC_000009.12:g.127456181_127456182del, NC_000009.12:g.127456182del, NC_000009.12:g.127456182dup, NC_000009.12:g.127456181_127456182dup, NC_000009.12:g.127456180_127456182dup, NC_000009.12:g.127456179_127456182dup, NC_000009.12:g.127456178_127456182dup, NC_000009.12:g.127456177_127456182dup, NC_000009.12:g.127456170_127456182dup, NC_000009.11:g.130218450_130218461del, NC_000009.11:g.130218453_130218461del, NC_000009.11:g.130218454_130218461del, NC_000009.11:g.130218455_130218461del, NC_000009.11:g.130218458_130218461del, NC_000009.11:g.130218459_130218461del, NC_000009.11:g.130218460_130218461del, NC_000009.11:g.130218461del, NC_000009.11:g.130218461dup, NC_000009.11:g.130218460_130218461dup, NC_000009.11:g.130218459_130218461dup, NC_000009.11:g.130218458_130218461dup, NC_000009.11:g.130218457_130218461dup, NC_000009.11:g.130218456_130218461dup, NC_000009.11:g.130218449_130218461dup, NG_032008.1:g.9686_9697del, NG_032008.1:g.9689_9697del, NG_032008.1:g.9690_9697del, NG_032008.1:g.9691_9697del, NG_032008.1:g.9694_9697del, NG_032008.1:g.9695_9697del, NG_032008.1:g.9696_9697del, NG_032008.1:g.9697del, NG_032008.1:g.9697dup, NG_032008.1:g.9696_9697dup, NG_032008.1:g.9695_9697dup, NG_032008.1:g.9694_9697dup, NG_032008.1:g.9693_9697dup, NG_032008.1:g.9692_9697dup, NG_032008.1:g.9685_9697dup
      3.

      rs1491522444 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        9:127471470 (GRCh38)
        9:130233750 (GRCh37)
        Canonical SPDI:
        NC_000009.12:127471470:A:AA
        Gene:
        LRSAM1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AA=0.00025/3 (ALFA)
        HGVS:
        4.

        rs1491461823 has merged into rs869115663 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          9:127466518 (GRCh38)
          9:130228797 (GRCh37)
          Canonical SPDI:
          NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127466504:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          LRSAM1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000009.12:g.127466518_127466530del, NC_000009.12:g.127466519_127466530del, NC_000009.12:g.127466520_127466530del, NC_000009.12:g.127466521_127466530del, NC_000009.12:g.127466522_127466530del, NC_000009.12:g.127466523_127466530del, NC_000009.12:g.127466524_127466530del, NC_000009.12:g.127466525_127466530del, NC_000009.12:g.127466526_127466530del, NC_000009.12:g.127466527_127466530del, NC_000009.12:g.127466528_127466530del, NC_000009.12:g.127466529_127466530del, NC_000009.12:g.127466530del, NC_000009.12:g.127466530dup, NC_000009.12:g.127466529_127466530dup, NC_000009.12:g.127466528_127466530dup, NC_000009.12:g.127466527_127466530dup, NC_000009.12:g.127466526_127466530dup, NC_000009.12:g.127466525_127466530dup, NC_000009.12:g.127466524_127466530dup, NC_000009.12:g.127466523_127466530dup, NC_000009.12:g.127466522_127466530dup, NC_000009.12:g.127466521_127466530dup, NC_000009.11:g.130228797_130228809del, NC_000009.11:g.130228798_130228809del, NC_000009.11:g.130228799_130228809del, NC_000009.11:g.130228800_130228809del, NC_000009.11:g.130228801_130228809del, NC_000009.11:g.130228802_130228809del, NC_000009.11:g.130228803_130228809del, NC_000009.11:g.130228804_130228809del, NC_000009.11:g.130228805_130228809del, NC_000009.11:g.130228806_130228809del, NC_000009.11:g.130228807_130228809del, NC_000009.11:g.130228808_130228809del, NC_000009.11:g.130228809del, NC_000009.11:g.130228809dup, NC_000009.11:g.130228808_130228809dup, NC_000009.11:g.130228807_130228809dup, NC_000009.11:g.130228806_130228809dup, NC_000009.11:g.130228805_130228809dup, NC_000009.11:g.130228804_130228809dup, NC_000009.11:g.130228803_130228809dup, NC_000009.11:g.130228802_130228809dup, NC_000009.11:g.130228801_130228809dup, NC_000009.11:g.130228800_130228809dup, NG_032008.1:g.20033_20045del, NG_032008.1:g.20034_20045del, NG_032008.1:g.20035_20045del, NG_032008.1:g.20036_20045del, NG_032008.1:g.20037_20045del, NG_032008.1:g.20038_20045del, NG_032008.1:g.20039_20045del, NG_032008.1:g.20040_20045del, NG_032008.1:g.20041_20045del, NG_032008.1:g.20042_20045del, NG_032008.1:g.20043_20045del, NG_032008.1:g.20044_20045del, NG_032008.1:g.20045del, NG_032008.1:g.20045dup, NG_032008.1:g.20044_20045dup, NG_032008.1:g.20043_20045dup, NG_032008.1:g.20042_20045dup, NG_032008.1:g.20041_20045dup, NG_032008.1:g.20040_20045dup, NG_032008.1:g.20039_20045dup, NG_032008.1:g.20038_20045dup, NG_032008.1:g.20037_20045dup, NG_032008.1:g.20036_20045dup
          5.

          rs1491413633 has merged into rs776197379 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>-,CC,CCC [Show Flanks]
            Chromosome:
            9:127466531 (GRCh38)
            9:130228810 (GRCh37)
            Canonical SPDI:
            NC_000009.12:127466530:CC:C,NC_000009.12:127466530:CC:CCC,NC_000009.12:127466530:CC:CCCC
            Gene:
            LRSAM1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCC=0./0 (ALFA)
            -=0.075/3 (GENOME_DK)
            HGVS:
            6.

            rs1491410994 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GA>- [Show Flanks]
              Chromosome:
              9:127500378 (GRCh38)
              9:130262657 (GRCh37)
              Canonical SPDI:
              NC_000009.12:127500374:AGAGA:AGA
              Gene:
              LRSAM1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGA=0.000084/1 (ALFA)
              -=0.000072/10 (GnomAD)
              HGVS:
              7.

              rs1491408042 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                9:127456162 (GRCh38)
                9:130218441 (GRCh37)
                Canonical SPDI:
                NC_000009.12:127456161:CA:
                Gene:
                LRSAM1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.01804/214 (ALFA)
                -=0.00226/104 (GnomAD)
                HGVS:
                8.

                rs1491346764 has merged into rs35834839 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTCCTTTTTTTTTTTTTTTTTTT,TTTTTTTCCTTTTTTTTTTTTTTTTTTTT,TTTTTTTCCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTCTTTTTTTTTTTTTTTTTTATTTTTATACTCTTTTTTTTTTTTTTTTTTT,TTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  9:127484275 (GRCh38)
                  9:130246554 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTATTTTTATACTCTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127484263:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  LRSAM1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTT=0./0 (ALFA)
                  HGVS:
                  NC_000009.12:g.127484275_127484280del, NC_000009.12:g.127484276_127484280del, NC_000009.12:g.127484277_127484280del, NC_000009.12:g.127484279_127484280del, NC_000009.12:g.127484280del, NC_000009.12:g.127484280dup, NC_000009.12:g.127484264_127484280T[18]CCTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[18]CCTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[18]CCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[18]CTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[18]CTTTTTTTTTTTTTTTTTTATTTTTATACTCTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[18]CTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[18]CTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484279_127484280dup, NC_000009.12:g.127484264_127484280T[19]CTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[19]CTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484278_127484280dup, NC_000009.12:g.127484264_127484280T[20]CCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[20]CTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[20]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484264_127484280T[20]GTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.127484277_127484280dup, NC_000009.12:g.127484274_127484280dup, NC_000009.12:g.127484265_127484280dup, NC_000009.12:g.127484280_127484281insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.127484280_127484281insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.130246554_130246559del, NC_000009.11:g.130246555_130246559del, NC_000009.11:g.130246556_130246559del, NC_000009.11:g.130246558_130246559del, NC_000009.11:g.130246559del, NC_000009.11:g.130246559dup, NC_000009.11:g.130246543_130246559T[18]CCTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[18]CCTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[18]CCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[18]CTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[18]CTTTTTTTTTTTTTTTTTTATTTTTATACTCTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[18]CTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[18]CTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246558_130246559dup, NC_000009.11:g.130246543_130246559T[19]CTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[19]CTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246557_130246559dup, NC_000009.11:g.130246543_130246559T[20]CCTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[20]CTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[20]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246543_130246559T[20]GTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.130246556_130246559dup, NC_000009.11:g.130246553_130246559dup, NC_000009.11:g.130246544_130246559dup, NC_000009.11:g.130246559_130246560insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.130246559_130246560insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032008.1:g.37790_37795del, NG_032008.1:g.37791_37795del, NG_032008.1:g.37792_37795del, NG_032008.1:g.37794_37795del, NG_032008.1:g.37795del, NG_032008.1:g.37795dup, NG_032008.1:g.37779_37795T[18]CCTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[18]CCTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[18]CCTTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[18]CTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[18]CTTTTTTTTTTTTTTTTTTATTTTTATACTCTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[18]CTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[18]CTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37794_37795dup, NG_032008.1:g.37779_37795T[19]CTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[19]CTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37793_37795dup, NG_032008.1:g.37779_37795T[20]CCTTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[20]CTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[20]CTTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37779_37795T[20]GTTTTTTTTTTTTTTTTTTTT[1], NG_032008.1:g.37792_37795dup, NG_032008.1:g.37789_37795dup, NG_032008.1:g.37780_37795dup, NG_032008.1:g.37795_37796insTTTTTTTTTTTTTTTTTTTTTT, NG_032008.1:g.37795_37796insTTTTTTTTTTTTTTTTTTTTTTTTTT
                  9.

                  rs1491322695 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    9:127471472 (GRCh38)
                    9:130233751 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:127471469:TATA:TA
                    Gene:
                    LRSAM1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TATA=0.00776/92 (ALFA)
                    -=0.00034/23 (GnomAD)
                    HGVS:
                    10.

                    rs1491305225 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->AAAAG [Show Flanks]
                      Chromosome:
                      9:127500375 (GRCh38)
                      9:130262655 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:127500375::AAAAG
                      Gene:
                      LRSAM1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAAAG=0./0 (ALFA)
                      AAAAG=0.000015/2 (GnomAD)
                      HGVS:
                      11.

                      rs1491274975 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        9:127463198 (GRCh38)
                        9:130225477 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:127463197:CA:
                        Gene:
                        LRSAM1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.004/15 (TWINSUK)
                        -=0.0057/22 (ALSPAC)
                        HGVS:
                        12.

                        rs1491172284 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TC>- [Show Flanks]
                          Chromosome:
                          9:127466530 (GRCh38)
                          9:130228809 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:127466529:TC:
                          Gene:
                          LRSAM1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.00084/10 (ALFA)
                          -=0.00999/864 (GnomAD)
                          -=0.08664/1386 (TOMMO)
                          HGVS:
                          13.

                          rs1491118943 has merged into rs71380066 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            9:127502697 (GRCh38)
                            9:130264976 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:127502686:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            LRSAM1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAA=0./0 (ALFA)
                            HGVS:
                            NC_000009.12:g.127502697_127502710del, NC_000009.12:g.127502699_127502710del, NC_000009.12:g.127502700_127502710del, NC_000009.12:g.127502702_127502710del, NC_000009.12:g.127502703_127502710del, NC_000009.12:g.127502704_127502710del, NC_000009.12:g.127502705_127502710del, NC_000009.12:g.127502706_127502710del, NC_000009.12:g.127502707_127502710del, NC_000009.12:g.127502708_127502710del, NC_000009.12:g.127502709_127502710del, NC_000009.12:g.127502710del, NC_000009.12:g.127502710dup, NC_000009.12:g.127502709_127502710dup, NC_000009.12:g.127502708_127502710dup, NC_000009.12:g.127502707_127502710dup, NC_000009.12:g.127502706_127502710dup, NC_000009.12:g.127502705_127502710dup, NC_000009.11:g.130264976_130264989del, NC_000009.11:g.130264978_130264989del, NC_000009.11:g.130264979_130264989del, NC_000009.11:g.130264981_130264989del, NC_000009.11:g.130264982_130264989del, NC_000009.11:g.130264983_130264989del, NC_000009.11:g.130264984_130264989del, NC_000009.11:g.130264985_130264989del, NC_000009.11:g.130264986_130264989del, NC_000009.11:g.130264987_130264989del, NC_000009.11:g.130264988_130264989del, NC_000009.11:g.130264989del, NC_000009.11:g.130264989dup, NC_000009.11:g.130264988_130264989dup, NC_000009.11:g.130264987_130264989dup, NC_000009.11:g.130264986_130264989dup, NC_000009.11:g.130264985_130264989dup, NC_000009.11:g.130264984_130264989dup, NG_032008.1:g.56212_56225del, NG_032008.1:g.56214_56225del, NG_032008.1:g.56215_56225del, NG_032008.1:g.56217_56225del, NG_032008.1:g.56218_56225del, NG_032008.1:g.56219_56225del, NG_032008.1:g.56220_56225del, NG_032008.1:g.56221_56225del, NG_032008.1:g.56222_56225del, NG_032008.1:g.56223_56225del, NG_032008.1:g.56224_56225del, NG_032008.1:g.56225del, NG_032008.1:g.56225dup, NG_032008.1:g.56224_56225dup, NG_032008.1:g.56223_56225dup, NG_032008.1:g.56222_56225dup, NG_032008.1:g.56221_56225dup, NG_032008.1:g.56220_56225dup
                            14.

                            rs1491115878 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->TGTTTTTTTTTTTTTTTT
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1491045154 has merged into rs1554762091 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
                                Chromosome:
                                9:127499554 (GRCh38)
                                9:130261833 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:127499537:ATATATATATATATATATAT:ATATATATATATATAT,NC_000009.12:127499537:ATATATATATATATATATAT:ATATATATATATATATAT,NC_000009.12:127499537:ATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000009.12:127499537:ATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000009.12:127499537:ATATATATATATATATATAT:ATATATATATATATATATATATATAT
                                Gene:
                                LRSAM1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATATATATATATATATATATAT=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491000595 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:127497853 (GRCh38)
                                  9:130260132 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:127497852:A:G
                                  Gene:
                                  LRSAM1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490969592 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    9:127483781 (GRCh38)
                                    9:130246060 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:127483780:A:C
                                    Gene:
                                    LRSAM1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490937203 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:127482696 (GRCh38)
                                      9:130244975 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:127482695:A:G
                                      Gene:
                                      LRSAM1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490836514 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:127454381 (GRCh38)
                                        9:130216660 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:127454380:A:G
                                        Gene:
                                        LRSAM1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000142/2 (ALFA)
                                        G=0.000021/3 (GnomAD)
                                        G=0.000038/10 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490764160 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:127481363 (GRCh38)
                                          9:130243642 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:127481362:C:T
                                          Gene:
                                          LRSAM1 (Varview)
                                          Functional Consequence:
                                          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:

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