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Items: 1 to 20 of 9306

1.

rs1491583674 has merged into rs56022687 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    15:56461992 (GRCh38)
    15:56754190 (GRCh37)
    Canonical SPDI:
    NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    MNS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.0241/93 (ALSPAC)
    -=0.0262/97 (TWINSUK)
    HGVS:
    NC_000015.10:g.56461992_56462010del, NC_000015.10:g.56461993_56462010del, NC_000015.10:g.56461994_56462010del, NC_000015.10:g.56461995_56462010del, NC_000015.10:g.56461996_56462010del, NC_000015.10:g.56461997_56462010del, NC_000015.10:g.56461998_56462010del, NC_000015.10:g.56461999_56462010del, NC_000015.10:g.56462000_56462010del, NC_000015.10:g.56462001_56462010del, NC_000015.10:g.56462002_56462010del, NC_000015.10:g.56462003_56462010del, NC_000015.10:g.56462004_56462010del, NC_000015.10:g.56462005_56462010del, NC_000015.10:g.56462006_56462010del, NC_000015.10:g.56462007_56462010del, NC_000015.10:g.56462008_56462010del, NC_000015.10:g.56462009_56462010del, NC_000015.10:g.56462010del, NC_000015.10:g.56462010dup, NC_000015.10:g.56462009_56462010dup, NC_000015.10:g.56462008_56462010dup, NC_000015.10:g.56462007_56462010dup, NC_000015.10:g.56462006_56462010dup, NC_000015.10:g.56462005_56462010dup, NC_000015.10:g.56462004_56462010dup, NC_000015.10:g.56462003_56462010dup, NC_000015.10:g.56462002_56462010dup, NC_000015.10:g.56462001_56462010dup, NC_000015.10:g.56462000_56462010dup, NC_000015.10:g.56461999_56462010dup, NC_000015.10:g.56461998_56462010dup, NC_000015.10:g.56461997_56462010dup, NC_000015.10:g.56461996_56462010dup, NC_000015.10:g.56461995_56462010dup, NC_000015.10:g.56461994_56462010dup, NC_000015.10:g.56461993_56462010dup, NC_000015.10:g.56461990_56462010dup, NC_000015.10:g.56461982_56462010dup, NC_000015.9:g.56754190_56754208del, NC_000015.9:g.56754191_56754208del, NC_000015.9:g.56754192_56754208del, NC_000015.9:g.56754193_56754208del, NC_000015.9:g.56754194_56754208del, NC_000015.9:g.56754195_56754208del, NC_000015.9:g.56754196_56754208del, NC_000015.9:g.56754197_56754208del, NC_000015.9:g.56754198_56754208del, NC_000015.9:g.56754199_56754208del, NC_000015.9:g.56754200_56754208del, NC_000015.9:g.56754201_56754208del, NC_000015.9:g.56754202_56754208del, NC_000015.9:g.56754203_56754208del, NC_000015.9:g.56754204_56754208del, NC_000015.9:g.56754205_56754208del, NC_000015.9:g.56754206_56754208del, NC_000015.9:g.56754207_56754208del, NC_000015.9:g.56754208del, NC_000015.9:g.56754208dup, NC_000015.9:g.56754207_56754208dup, NC_000015.9:g.56754206_56754208dup, NC_000015.9:g.56754205_56754208dup, NC_000015.9:g.56754204_56754208dup, NC_000015.9:g.56754203_56754208dup, NC_000015.9:g.56754202_56754208dup, NC_000015.9:g.56754201_56754208dup, NC_000015.9:g.56754200_56754208dup, NC_000015.9:g.56754199_56754208dup, NC_000015.9:g.56754198_56754208dup, NC_000015.9:g.56754197_56754208dup, NC_000015.9:g.56754196_56754208dup, NC_000015.9:g.56754195_56754208dup, NC_000015.9:g.56754194_56754208dup, NC_000015.9:g.56754193_56754208dup, NC_000015.9:g.56754192_56754208dup, NC_000015.9:g.56754191_56754208dup, NC_000015.9:g.56754188_56754208dup, NC_000015.9:g.56754180_56754208dup

    2.

    rs1491572814 has merged into rs11294380 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      15:56461671 (GRCh38)
      15:56753869 (GRCh37)
      Canonical SPDI:
      NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      MNS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000015.10:g.56461671_56461682del, NC_000015.10:g.56461672_56461682del, NC_000015.10:g.56461673_56461682del, NC_000015.10:g.56461674_56461682del, NC_000015.10:g.56461675_56461682del, NC_000015.10:g.56461677_56461682del, NC_000015.10:g.56461678_56461682del, NC_000015.10:g.56461679_56461682del, NC_000015.10:g.56461680_56461682del, NC_000015.10:g.56461681_56461682del, NC_000015.10:g.56461682del, NC_000015.10:g.56461682dup, NC_000015.10:g.56461681_56461682dup, NC_000015.10:g.56461680_56461682dup, NC_000015.10:g.56461679_56461682dup, NC_000015.10:g.56461678_56461682dup, NC_000015.10:g.56461677_56461682dup, NC_000015.10:g.56461676_56461682dup, NC_000015.10:g.56461673_56461682dup, NC_000015.10:g.56461682_56461683insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56753869_56753880del, NC_000015.9:g.56753870_56753880del, NC_000015.9:g.56753871_56753880del, NC_000015.9:g.56753872_56753880del, NC_000015.9:g.56753873_56753880del, NC_000015.9:g.56753875_56753880del, NC_000015.9:g.56753876_56753880del, NC_000015.9:g.56753877_56753880del, NC_000015.9:g.56753878_56753880del, NC_000015.9:g.56753879_56753880del, NC_000015.9:g.56753880del, NC_000015.9:g.56753880dup, NC_000015.9:g.56753879_56753880dup, NC_000015.9:g.56753878_56753880dup, NC_000015.9:g.56753877_56753880dup, NC_000015.9:g.56753876_56753880dup, NC_000015.9:g.56753875_56753880dup, NC_000015.9:g.56753874_56753880dup, NC_000015.9:g.56753871_56753880dup, NC_000015.9:g.56753880_56753881insAAAAAAAAAAAAAAAAAAAAAAAAAAA

      3.

      rs1491562886 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        15:56433269 (GRCh38)
        15:56725467 (GRCh37)
        Canonical SPDI:
        NC_000015.10:56433268:GA:
        Gene:
        MNS1 (Varview), TEX9 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000084/1 (ALFA)
        -=0.00003/4 (GnomAD)
        -=0.000035/1 (TOMMO)
        HGVS:

        4.

        rs1491531760 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          15:56461660 (GRCh38)
          15:56753858 (GRCh37)
          Canonical SPDI:
          NC_000015.10:56461659:CA:
          Gene:
          MNS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00059/7 (ALFA)
          HGVS:

          5.

          rs1491489599 has merged into rs56339584 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            15:56455259 (GRCh38)
            15:56747457 (GRCh37)
            Canonical SPDI:
            NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            MNS1 (Varview), TEX9 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            A=0.0083/32 (ALSPAC)
            A=0.0121/45 (TWINSUK)
            HGVS:
            NC_000015.10:g.56455259_56455271del, NC_000015.10:g.56455261_56455271del, NC_000015.10:g.56455262_56455271del, NC_000015.10:g.56455263_56455271del, NC_000015.10:g.56455264_56455271del, NC_000015.10:g.56455265_56455271del, NC_000015.10:g.56455266_56455271del, NC_000015.10:g.56455267_56455271del, NC_000015.10:g.56455268_56455271del, NC_000015.10:g.56455269_56455271del, NC_000015.10:g.56455270_56455271del, NC_000015.10:g.56455271del, NC_000015.10:g.56455271dup, NC_000015.10:g.56455270_56455271dup, NC_000015.10:g.56455269_56455271dup, NC_000015.10:g.56455268_56455271dup, NC_000015.10:g.56455267_56455271dup, NC_000015.10:g.56455266_56455271dup, NC_000015.10:g.56455253_56455271dup, NC_000015.10:g.56455248_56455271dup, NC_000015.10:g.56455271_56455272insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.56455248_56455271A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.56747457_56747469del, NC_000015.9:g.56747459_56747469del, NC_000015.9:g.56747460_56747469del, NC_000015.9:g.56747461_56747469del, NC_000015.9:g.56747462_56747469del, NC_000015.9:g.56747463_56747469del, NC_000015.9:g.56747464_56747469del, NC_000015.9:g.56747465_56747469del, NC_000015.9:g.56747466_56747469del, NC_000015.9:g.56747467_56747469del, NC_000015.9:g.56747468_56747469del, NC_000015.9:g.56747469del, NC_000015.9:g.56747469dup, NC_000015.9:g.56747468_56747469dup, NC_000015.9:g.56747467_56747469dup, NC_000015.9:g.56747466_56747469dup, NC_000015.9:g.56747465_56747469dup, NC_000015.9:g.56747464_56747469dup, NC_000015.9:g.56747451_56747469dup, NC_000015.9:g.56747446_56747469dup, NC_000015.9:g.56747469_56747470insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56747446_56747469A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

            6.

            rs1491346322 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              15:56461661 (GRCh38)
              15:56753860 (GRCh37)
              Canonical SPDI:
              NC_000015.10:56461661::T
              Gene:
              MNS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1491289787 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                15:56455247 (GRCh38)
                15:56747445 (GRCh37)
                Canonical SPDI:
                NC_000015.10:56455246:GA:
                Gene:
                MNS1 (Varview), TEX9 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.00085/24 (TOMMO)
                HGVS:

                8.

                rs1491218745 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GT [Show Flanks]
                  Chromosome:
                  15:56461976 (GRCh38)
                  15:56754175 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:56461976:T:TGT
                  Gene:
                  MNS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TGT=0.00008/1 (ALFA)
                  HGVS:

                  9.

                  rs1491205532 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AC>- [Show Flanks]
                    Chromosome:
                    15:56461682 (GRCh38)
                    15:56753880 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:56461681:AC:
                    Gene:
                    MNS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.000084/1 (ALFA)
                    -=0.000044/6 (GnomAD)
                    HGVS:

                    10.

                    rs1491135418 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      15:56461682 (GRCh38)
                      15:56753881 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:56461682:C:CC
                      Gene:
                      MNS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CC=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1491123632 has merged into rs11294380 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        15:56461671 (GRCh38)
                        15:56753869 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        MNS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000015.10:g.56461671_56461682del, NC_000015.10:g.56461672_56461682del, NC_000015.10:g.56461673_56461682del, NC_000015.10:g.56461674_56461682del, NC_000015.10:g.56461675_56461682del, NC_000015.10:g.56461677_56461682del, NC_000015.10:g.56461678_56461682del, NC_000015.10:g.56461679_56461682del, NC_000015.10:g.56461680_56461682del, NC_000015.10:g.56461681_56461682del, NC_000015.10:g.56461682del, NC_000015.10:g.56461682dup, NC_000015.10:g.56461681_56461682dup, NC_000015.10:g.56461680_56461682dup, NC_000015.10:g.56461679_56461682dup, NC_000015.10:g.56461678_56461682dup, NC_000015.10:g.56461677_56461682dup, NC_000015.10:g.56461676_56461682dup, NC_000015.10:g.56461673_56461682dup, NC_000015.10:g.56461682_56461683insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56753869_56753880del, NC_000015.9:g.56753870_56753880del, NC_000015.9:g.56753871_56753880del, NC_000015.9:g.56753872_56753880del, NC_000015.9:g.56753873_56753880del, NC_000015.9:g.56753875_56753880del, NC_000015.9:g.56753876_56753880del, NC_000015.9:g.56753877_56753880del, NC_000015.9:g.56753878_56753880del, NC_000015.9:g.56753879_56753880del, NC_000015.9:g.56753880del, NC_000015.9:g.56753880dup, NC_000015.9:g.56753879_56753880dup, NC_000015.9:g.56753878_56753880dup, NC_000015.9:g.56753877_56753880dup, NC_000015.9:g.56753876_56753880dup, NC_000015.9:g.56753875_56753880dup, NC_000015.9:g.56753874_56753880dup, NC_000015.9:g.56753871_56753880dup, NC_000015.9:g.56753880_56753881insAAAAAAAAAAAAAAAAAAAAAAAAAAA

                        12.

                        rs1491098808 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->CC,GGGGGGCC,GGGGGGGC,GGGGGGGCC,GGGGGGGGGC,GGGGGGGGGCC,GGGGGGGGGCCC [Show Flanks]
                          Chromosome:
                          15:56433269 (GRCh38)
                          15:56725468 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:56433269::CC,NC_000015.10:56433269::GGGGGGCC,NC_000015.10:56433269::GGGGGGGC,NC_000015.10:56433269::GGGGGGGCC,NC_000015.10:56433269::GGGGGGGGGC,NC_000015.10:56433269::GGGGGGGGGCC,NC_000015.10:56433269::GGGGGGGGGCCC
                          Gene:
                          MNS1 (Varview), TEX9 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CC=0./0 (ALFA)
                          HGVS:
                          NC_000015.10:g.56433269_56433270insCC, NC_000015.10:g.56433269_56433270insGGGGGGCC, NC_000015.10:g.56433269_56433270insGGGGGGGC, NC_000015.10:g.56433269_56433270insGGGGGGGCC, NC_000015.10:g.56433269_56433270insGGGGGGGGGC, NC_000015.10:g.56433269_56433270insGGGGGGGGGCC, NC_000015.10:g.56433269_56433270insGGGGGGGGGCCC, NC_000015.9:g.56725467_56725468insCC, NC_000015.9:g.56725467_56725468insGGGGGGCC, NC_000015.9:g.56725467_56725468insGGGGGGGC, NC_000015.9:g.56725467_56725468insGGGGGGGCC, NC_000015.9:g.56725467_56725468insGGGGGGGGGC, NC_000015.9:g.56725467_56725468insGGGGGGGGGCC, NC_000015.9:g.56725467_56725468insGGGGGGGGGCCC, XM_047432467.1:c.*124_*125insCC, XM_047432467.1:c.*124_*125insGGGGGGCC, XM_047432467.1:c.*124_*125insGGGGGGGC, XM_047432467.1:c.*124_*125insGGGGGGGCC, XM_047432467.1:c.*124_*125insGGGGGGGGGC, XM_047432467.1:c.*124_*125insGGGGGGGGGCC, XM_047432467.1:c.*124_*125insGGGGGGGGGCCC

                          13.

                          rs1491080218 has merged into rs150132300 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            15:56460000 (GRCh38)
                            15:56752198 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            MNS1 (Varview), TEX9 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAA=0./0 (ALFA)
                            HGVS:
                            NC_000015.10:g.56460000_56460010del, NC_000015.10:g.56460002_56460010del, NC_000015.10:g.56460003_56460010del, NC_000015.10:g.56460004_56460010del, NC_000015.10:g.56460005_56460010del, NC_000015.10:g.56460006_56460010del, NC_000015.10:g.56460007_56460010del, NC_000015.10:g.56460008_56460010del, NC_000015.10:g.56460009_56460010del, NC_000015.10:g.56460010del, NC_000015.10:g.56460010dup, NC_000015.10:g.56460009_56460010dup, NC_000015.10:g.56460008_56460010dup, NC_000015.10:g.56460007_56460010dup, NC_000015.10:g.56460006_56460010dup, NC_000015.10:g.56460005_56460010dup, NC_000015.10:g.56460004_56460010dup, NC_000015.10:g.56460003_56460010dup, NC_000015.10:g.56460002_56460010dup, NC_000015.10:g.56460001_56460010dup, NC_000015.10:g.56460000_56460010dup, NC_000015.10:g.56459999_56460010dup, NC_000015.10:g.56459998_56460010dup, NC_000015.10:g.56459997_56460010dup, NC_000015.10:g.56459996_56460010dup, NC_000015.10:g.56459994_56460010dup, NC_000015.10:g.56459993_56460010dup, NC_000015.10:g.56459992_56460010dup, NC_000015.10:g.56459991_56460010dup, NC_000015.10:g.56460010_56460011insAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56752198_56752208del, NC_000015.9:g.56752200_56752208del, NC_000015.9:g.56752201_56752208del, NC_000015.9:g.56752202_56752208del, NC_000015.9:g.56752203_56752208del, NC_000015.9:g.56752204_56752208del, NC_000015.9:g.56752205_56752208del, NC_000015.9:g.56752206_56752208del, NC_000015.9:g.56752207_56752208del, NC_000015.9:g.56752208del, NC_000015.9:g.56752208dup, NC_000015.9:g.56752207_56752208dup, NC_000015.9:g.56752206_56752208dup, NC_000015.9:g.56752205_56752208dup, NC_000015.9:g.56752204_56752208dup, NC_000015.9:g.56752203_56752208dup, NC_000015.9:g.56752202_56752208dup, NC_000015.9:g.56752201_56752208dup, NC_000015.9:g.56752200_56752208dup, NC_000015.9:g.56752199_56752208dup, NC_000015.9:g.56752198_56752208dup, NC_000015.9:g.56752197_56752208dup, NC_000015.9:g.56752196_56752208dup, NC_000015.9:g.56752195_56752208dup, NC_000015.9:g.56752194_56752208dup, NC_000015.9:g.56752192_56752208dup, NC_000015.9:g.56752191_56752208dup, NC_000015.9:g.56752190_56752208dup, NC_000015.9:g.56752189_56752208dup, NC_000015.9:g.56752208_56752209insAAAAAAAAAAAAAAAAAAAAA, XM_047432466.1:c.*402_*412del, XM_047432466.1:c.*404_*412del, XM_047432466.1:c.*405_*412del, XM_047432466.1:c.*406_*412del, XM_047432466.1:c.*407_*412del, XM_047432466.1:c.*408_*412del, XM_047432466.1:c.*409_*412del, XM_047432466.1:c.*410_*412del, XM_047432466.1:c.*411_*412del, XM_047432466.1:c.*412del, XM_047432466.1:c.*412dup, XM_047432466.1:c.*411_*412dup, XM_047432466.1:c.*410_*412dup, XM_047432466.1:c.*409_*412dup, XM_047432466.1:c.*408_*412dup, XM_047432466.1:c.*407_*412dup, XM_047432466.1:c.*406_*412dup, XM_047432466.1:c.*405_*412dup, XM_047432466.1:c.*404_*412dup, XM_047432466.1:c.*403_*412dup, XM_047432466.1:c.*402_*412dup, XM_047432466.1:c.*401_*412dup, XM_047432466.1:c.*400_*412dup, XM_047432466.1:c.*399_*412dup, XM_047432466.1:c.*398_*412dup, XM_047432466.1:c.*396_*412dup, XM_047432466.1:c.*395_*412dup, XM_047432466.1:c.*394_*412dup, XM_047432466.1:c.*393_*412dup, XM_047432466.1:c.*412_*413insAAAAAAAAAAAAAAAAAAAAA

                            14.

                            rs1491002997 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              15:56440345 (GRCh38)
                              15:56732543 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:56440344:C:G
                              Gene:
                              MNS1 (Varview), TEX9 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_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:

                              15.

                              rs1490945988 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                15:56458579 (GRCh38)
                                15:56750778 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:56458579:CCC:CCCC
                                Gene:
                                MNS1 (Varview), TEX9 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490937069 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  15:56441419 (GRCh38)
                                  15:56733617 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:56441418:G:A,NC_000015.10:56441418:G:C
                                  Gene:
                                  MNS1 (Varview), TEX9 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490884662 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    15:56428460 (GRCh38)
                                    15:56720658 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:56428459:T:C
                                    Gene:
                                    MNS1 (Varview), TEX9 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.56428460T>C, NC_000015.9:g.56720658T>C, XM_005254359.6:c.*16T>C, XM_005254359.5:c.*16T>C, XM_005254359.4:c.*16T>C, XM_005254359.3:c.*16T>C, XM_005254359.2:c.*16T>C, XM_005254359.1:c.*16T>C, XM_011521530.4:c.*16T>C, XM_011521530.3:c.*16T>C, XM_011521530.2:c.*16T>C, XM_011521530.1:c.*16T>C, NM_198524.3:c.*16T>C, NM_198524.2:c.*16T>C, NM_198524.1:c.*16T>C, NM_001286449.2:c.*16T>C, NM_001286449.1:c.*16T>C, XM_047432467.1:c.*16T>C, NR_169563.1:n.1513T>C, XM_047432470.1:c.*16T>C, NM_001385045.1:c.*16T>C, NM_001385041.1:c.*16T>C, NM_001385042.1:c.*16T>C, NM_001385040.1:c.*16T>C, NM_001385049.1:c.*16T>C, NR_169562.1:n.1294T>C, NM_001385051.1:c.*16T>C, NM_001395496.1:c.*16T>C, NM_001385050.1:c.*16T>C, XM_047432471.1:c.*16T>C, NM_001385052.1:c.*16T>C, NM_001385044.1:c.*16T>C, NR_169561.1:n.1137T>C, XM_047432469.1:c.*16T>C, NM_001385046.1:c.*16T>C, NM_001385048.1:c.*16T>C, NM_001385047.1:c.*16T>C, NR_169560.1:n.1005T>C, XM_047432472.1:c.*16T>C, XM_047432473.1:c.*16T>C, XM_047432474.1:c.*16T>C, XM_047432466.1:c.*16T>C, NM_001385043.1:c.*16T>C, XM_047432468.1:c.*16T>C, XM_047432475.1:c.*16T>C, XM_047432476.1:c.*16T>C

                                    18.

                                    rs1490825367 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      15:56448889 (GRCh38)
                                      15:56741087 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:56448888:G:A,NC_000015.10:56448888:G:T
                                      Gene:
                                      MNS1 (Varview), TEX9 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:

                                      19.

                                      rs1490801476 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        15:56462756 (GRCh38)
                                        15:56754954 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:56462755:C:A
                                        Gene:
                                        MNS1 (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:

                                        20.

                                        rs1490788169 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:56434292 (GRCh38)
                                          15:56726490 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:56434291:T:C
                                          Gene:
                                          MNS1 (Varview), TEX9 (Varview)
                                          Functional Consequence:
                                          missense_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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