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Items: 1 to 20 of 34658

1.

rs1491569366 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    5:21494676 (GRCh38)
    5:21494786 (GRCh37)
    Canonical SPDI:
    NC_000005.10:21494676::G
    Gene:
    GUSBP1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.006984/117 (TOMMO)
    G=0.017854/2328 (GnomAD)
    G=0.020263/37 (Korea1K)
    G=0.048333/29 (NorthernSweden)
    HGVS:

    2.

    rs1491557403 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->TTA
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1491557370 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        5:21488999 (GRCh38)
        5:21489108 (GRCh37)
        Canonical SPDI:
        NC_000005.10:21488996:TTTT:TT
        Gene:
        GUSBP1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTT=0./0 (ALFA)
        -=0.00004/1 (TOMMO)
        HGVS:

        4.

        rs1491543643 has merged into rs1167029902 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          5:21489471 (GRCh38)
          5:21489580 (GRCh37)
          Canonical SPDI:
          NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21489457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          GUSBP1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.21489471_21489478del, NC_000005.10:g.21489472_21489478del, NC_000005.10:g.21489473_21489478del, NC_000005.10:g.21489474_21489478del, NC_000005.10:g.21489476_21489478del, NC_000005.10:g.21489477_21489478del, NC_000005.10:g.21489478del, NC_000005.10:g.21489478dup, NC_000005.10:g.21489477_21489478dup, NC_000005.10:g.21489476_21489478dup, NC_000005.10:g.21489475_21489478dup, NC_000005.10:g.21489474_21489478dup, NC_000005.10:g.21489473_21489478dup, NC_000005.10:g.21489472_21489478dup, NC_000005.10:g.21489471_21489478dup, NC_000005.10:g.21489470_21489478dup, NC_000005.10:g.21489466_21489478dup, NC_000005.10:g.21489465_21489478dup, NC_000005.10:g.21489461_21489478dup, NC_000005.10:g.21489460_21489478dup, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21489478_21489479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489580_21489587del, NC_000005.9:g.21489581_21489587del, NC_000005.9:g.21489582_21489587del, NC_000005.9:g.21489583_21489587del, NC_000005.9:g.21489585_21489587del, NC_000005.9:g.21489586_21489587del, NC_000005.9:g.21489587del, NC_000005.9:g.21489587dup, NC_000005.9:g.21489586_21489587dup, NC_000005.9:g.21489585_21489587dup, NC_000005.9:g.21489584_21489587dup, NC_000005.9:g.21489583_21489587dup, NC_000005.9:g.21489582_21489587dup, NC_000005.9:g.21489581_21489587dup, NC_000005.9:g.21489580_21489587dup, NC_000005.9:g.21489579_21489587dup, NC_000005.9:g.21489575_21489587dup, NC_000005.9:g.21489574_21489587dup, NC_000005.9:g.21489570_21489587dup, NC_000005.9:g.21489569_21489587dup, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21489587_21489588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816dup, NW_016107297.1:g.38810_38816del, NW_016107297.1:g.38811_38816del, NW_016107297.1:g.38812_38816del, NW_016107297.1:g.38813_38816del, NW_016107297.1:g.38815_38816del, NW_016107297.1:g.38816del, NW_016107297.1:g.38815_38816dup, NW_016107297.1:g.38814_38816dup, NW_016107297.1:g.38813_38816dup, NW_016107297.1:g.38812_38816dup, NW_016107297.1:g.38811_38816dup, NW_016107297.1:g.38810_38816dup, NW_016107297.1:g.38809_38816dup, NW_016107297.1:g.38808_38816dup, NW_016107297.1:g.38807_38816dup, NW_016107297.1:g.38803_38816dup, NW_016107297.1:g.38802_38816dup, NW_016107297.1:g.38798_38816dup, NW_016107297.1:g.38797_38816dup, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.38816_38817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

          5.

          rs1491534595 has merged into rs67923070 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
            Chromosome:
            5:21546868 (GRCh38)
            5:21546977 (GRCh37)
            Canonical SPDI:
            NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:21546850:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
            Gene:
            GUSBP1 (Varview), LOC124900949 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
            HGVS:
            NC_000005.10:g.21546852TG[8], NC_000005.10:g.21546852TG[9], NC_000005.10:g.21546852TG[10], NC_000005.10:g.21546852TG[11], NC_000005.10:g.21546852TG[12], NC_000005.10:g.21546852TG[13], NC_000005.10:g.21546852TG[14], NC_000005.10:g.21546852TG[15], NC_000005.10:g.21546852TG[16], NC_000005.10:g.21546852TG[17], NC_000005.10:g.21546852TG[18], NC_000005.10:g.21546852TG[20], NC_000005.10:g.21546852TG[21], NC_000005.10:g.21546852TG[22], NC_000005.10:g.21546852TG[23], NC_000005.10:g.21546852TG[24], NC_000005.10:g.21546852TG[25], NC_000005.10:g.21546852TG[26], NC_000005.9:g.21546961TG[8], NC_000005.9:g.21546961TG[9], NC_000005.9:g.21546961TG[10], NC_000005.9:g.21546961TG[11], NC_000005.9:g.21546961TG[12], NC_000005.9:g.21546961TG[13], NC_000005.9:g.21546961TG[14], NC_000005.9:g.21546961TG[15], NC_000005.9:g.21546961TG[16], NC_000005.9:g.21546961TG[17], NC_000005.9:g.21546961TG[18], NC_000005.9:g.21546961TG[20], NC_000005.9:g.21546961TG[21], NC_000005.9:g.21546961TG[22], NC_000005.9:g.21546961TG[23], NC_000005.9:g.21546961TG[24], NC_000005.9:g.21546961TG[25], NC_000005.9:g.21546961TG[26], NW_016107297.1:g.195981TG[11], NW_016107297.1:g.195981TG[12], NW_016107297.1:g.195981TG[13], NW_016107297.1:g.195981TG[14], NW_016107297.1:g.195981TG[15], NW_016107297.1:g.195981TG[16], NW_016107297.1:g.195981TG[17], NW_016107297.1:g.195981TG[18], NW_016107297.1:g.195981TG[19], NW_016107297.1:g.195981TG[20], NW_016107297.1:g.195981TG[21], NW_016107297.1:g.195981TG[23], NW_016107297.1:g.195981TG[24], NW_016107297.1:g.195981TG[25], NW_016107297.1:g.195981TG[26], NW_016107297.1:g.195981TG[27], NW_016107297.1:g.195981TG[28], NW_016107297.1:g.195981TG[29], XR_007058709.1:n.250TG[8], XR_007058709.1:n.250TG[9], XR_007058709.1:n.250TG[10], XR_007058709.1:n.250TG[11], XR_007058709.1:n.250TG[12], XR_007058709.1:n.250TG[13], XR_007058709.1:n.250TG[14], XR_007058709.1:n.250TG[15], XR_007058709.1:n.250TG[16], XR_007058709.1:n.250TG[17], XR_007058709.1:n.250TG[18], XR_007058709.1:n.250TG[20], XR_007058709.1:n.250TG[21], XR_007058709.1:n.250TG[22], XR_007058709.1:n.250TG[23], XR_007058709.1:n.250TG[24], XR_007058709.1:n.250TG[25], XR_007058709.1:n.250TG[26]

            6.

            rs1491493821 has merged into rs113264960 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              5:21491195 (GRCh38)
              5:21491304 (GRCh37)
              Canonical SPDI:
              NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21491185:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              GUSBP1 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000005.10:g.21491195_21491211del, NC_000005.10:g.21491197_21491211del, NC_000005.10:g.21491198_21491211del, NC_000005.10:g.21491199_21491211del, NC_000005.10:g.21491200_21491211del, NC_000005.10:g.21491202_21491211del, NC_000005.10:g.21491203_21491211del, NC_000005.10:g.21491204_21491211del, NC_000005.10:g.21491205_21491211del, NC_000005.10:g.21491207_21491211del, NC_000005.10:g.21491208_21491211del, NC_000005.10:g.21491209_21491211del, NC_000005.10:g.21491210_21491211del, NC_000005.10:g.21491211del, NC_000005.10:g.21491211dup, NC_000005.10:g.21491210_21491211dup, NC_000005.10:g.21491209_21491211dup, NC_000005.10:g.21491208_21491211dup, NC_000005.10:g.21491207_21491211dup, NC_000005.10:g.21491206_21491211dup, NC_000005.10:g.21491205_21491211dup, NC_000005.10:g.21491204_21491211dup, NC_000005.10:g.21491203_21491211dup, NC_000005.10:g.21491202_21491211dup, NC_000005.10:g.21491201_21491211dup, NC_000005.10:g.21491200_21491211dup, NC_000005.10:g.21491195_21491211dup, NC_000005.10:g.21491194_21491211dup, NC_000005.10:g.21491192_21491211dup, NC_000005.10:g.21491189_21491211dup, NC_000005.10:g.21491186_21491211dup, NC_000005.9:g.21491304_21491320del, NC_000005.9:g.21491306_21491320del, NC_000005.9:g.21491307_21491320del, NC_000005.9:g.21491308_21491320del, NC_000005.9:g.21491309_21491320del, NC_000005.9:g.21491311_21491320del, NC_000005.9:g.21491312_21491320del, NC_000005.9:g.21491313_21491320del, NC_000005.9:g.21491314_21491320del, NC_000005.9:g.21491316_21491320del, NC_000005.9:g.21491317_21491320del, NC_000005.9:g.21491318_21491320del, NC_000005.9:g.21491319_21491320del, NC_000005.9:g.21491320del, NC_000005.9:g.21491320dup, NC_000005.9:g.21491319_21491320dup, NC_000005.9:g.21491318_21491320dup, NC_000005.9:g.21491317_21491320dup, NC_000005.9:g.21491316_21491320dup, NC_000005.9:g.21491315_21491320dup, NC_000005.9:g.21491314_21491320dup, NC_000005.9:g.21491313_21491320dup, NC_000005.9:g.21491312_21491320dup, NC_000005.9:g.21491311_21491320dup, NC_000005.9:g.21491310_21491320dup, NC_000005.9:g.21491309_21491320dup, NC_000005.9:g.21491304_21491320dup, NC_000005.9:g.21491303_21491320dup, NC_000005.9:g.21491301_21491320dup, NC_000005.9:g.21491298_21491320dup, NC_000005.9:g.21491295_21491320dup, NW_016107297.1:g.40544_40546dup, NW_016107297.1:g.40533_40546del, NW_016107297.1:g.40535_40546del, NW_016107297.1:g.40536_40546del, NW_016107297.1:g.40537_40546del, NW_016107297.1:g.40538_40546del, NW_016107297.1:g.40540_40546del, NW_016107297.1:g.40541_40546del, NW_016107297.1:g.40542_40546del, NW_016107297.1:g.40543_40546del, NW_016107297.1:g.40545_40546del, NW_016107297.1:g.40546del, NW_016107297.1:g.40546dup, NW_016107297.1:g.40545_40546dup, NW_016107297.1:g.40543_40546dup, NW_016107297.1:g.40542_40546dup, NW_016107297.1:g.40541_40546dup, NW_016107297.1:g.40540_40546dup, NW_016107297.1:g.40539_40546dup, NW_016107297.1:g.40538_40546dup, NW_016107297.1:g.40537_40546dup, NW_016107297.1:g.40536_40546dup, NW_016107297.1:g.40535_40546dup, NW_016107297.1:g.40534_40546dup, NW_016107297.1:g.40533_40546dup, NW_016107297.1:g.40532_40546dup, NW_016107297.1:g.40527_40546dup, NW_016107297.1:g.40526_40546dup, NW_016107297.1:g.40524_40546dup, NW_016107297.1:g.40546_40547insAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.40546_40547insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

              7.

              rs1491487395 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                5:21484955 (GRCh38)
                5:21485064 (GRCh37)
                Canonical SPDI:
                NC_000005.10:21484953:AGA:A
                Gene:
                GUSBP1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.0008/13 (ALFA)
                HGVS:

                8.

                rs1491474035 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  5:21471642 (GRCh38)
                  5:21471751 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:21471639:ATAT:AT
                  Gene:
                  GUSBP1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATAT=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1491444386 has merged into rs549633469 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    5:21458836 (GRCh38)
                    5:21458945 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:21458824:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    GUSBP1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000005.10:g.21458836_21458852del, NC_000005.10:g.21458837_21458852del, NC_000005.10:g.21458838_21458852del, NC_000005.10:g.21458839_21458852del, NC_000005.10:g.21458840_21458852del, NC_000005.10:g.21458841_21458852del, NC_000005.10:g.21458842_21458852del, NC_000005.10:g.21458843_21458852del, NC_000005.10:g.21458844_21458852del, NC_000005.10:g.21458845_21458852del, NC_000005.10:g.21458846_21458852del, NC_000005.10:g.21458847_21458852del, NC_000005.10:g.21458848_21458852del, NC_000005.10:g.21458849_21458852del, NC_000005.10:g.21458850_21458852del, NC_000005.10:g.21458851_21458852del, NC_000005.10:g.21458852del, NC_000005.10:g.21458852dup, NC_000005.10:g.21458851_21458852dup, NC_000005.10:g.21458850_21458852dup, NC_000005.10:g.21458849_21458852dup, NC_000005.10:g.21458848_21458852dup, NC_000005.10:g.21458847_21458852dup, NC_000005.10:g.21458846_21458852dup, NC_000005.10:g.21458845_21458852dup, NC_000005.10:g.21458844_21458852dup, NC_000005.10:g.21458843_21458852dup, NC_000005.10:g.21458842_21458852dup, NC_000005.10:g.21458841_21458852dup, NC_000005.10:g.21458840_21458852dup, NC_000005.10:g.21458839_21458852dup, NC_000005.10:g.21458838_21458852dup, NC_000005.10:g.21458837_21458852dup, NC_000005.10:g.21458836_21458852dup, NC_000005.10:g.21458835_21458852dup, NC_000005.10:g.21458834_21458852dup, NC_000005.10:g.21458833_21458852dup, NC_000005.10:g.21458832_21458852dup, NC_000005.10:g.21458830_21458852dup, NC_000005.9:g.21458945_21458961del, NC_000005.9:g.21458946_21458961del, NC_000005.9:g.21458947_21458961del, NC_000005.9:g.21458948_21458961del, NC_000005.9:g.21458949_21458961del, NC_000005.9:g.21458950_21458961del, NC_000005.9:g.21458951_21458961del, NC_000005.9:g.21458952_21458961del, NC_000005.9:g.21458953_21458961del, NC_000005.9:g.21458954_21458961del, NC_000005.9:g.21458955_21458961del, NC_000005.9:g.21458956_21458961del, NC_000005.9:g.21458957_21458961del, NC_000005.9:g.21458958_21458961del, NC_000005.9:g.21458959_21458961del, NC_000005.9:g.21458960_21458961del, NC_000005.9:g.21458961del, NC_000005.9:g.21458961dup, NC_000005.9:g.21458960_21458961dup, NC_000005.9:g.21458959_21458961dup, NC_000005.9:g.21458958_21458961dup, NC_000005.9:g.21458957_21458961dup, NC_000005.9:g.21458956_21458961dup, NC_000005.9:g.21458955_21458961dup, NC_000005.9:g.21458954_21458961dup, NC_000005.9:g.21458953_21458961dup, NC_000005.9:g.21458952_21458961dup, NC_000005.9:g.21458951_21458961dup, NC_000005.9:g.21458950_21458961dup, NC_000005.9:g.21458949_21458961dup, NC_000005.9:g.21458948_21458961dup, NC_000005.9:g.21458947_21458961dup, NC_000005.9:g.21458946_21458961dup, NC_000005.9:g.21458945_21458961dup, NC_000005.9:g.21458944_21458961dup, NC_000005.9:g.21458943_21458961dup, NC_000005.9:g.21458942_21458961dup, NC_000005.9:g.21458941_21458961dup, NC_000005.9:g.21458939_21458961dup, NW_016107297.1:g.8174_8186dup, NW_016107297.1:g.8183_8186del, NW_016107297.1:g.8184_8186del, NW_016107297.1:g.8185_8186del, NW_016107297.1:g.8186del, NW_016107297.1:g.8186dup, NW_016107297.1:g.8185_8186dup, NW_016107297.1:g.8184_8186dup, NW_016107297.1:g.8183_8186dup, NW_016107297.1:g.8182_8186dup, NW_016107297.1:g.8181_8186dup, NW_016107297.1:g.8180_8186dup, NW_016107297.1:g.8179_8186dup, NW_016107297.1:g.8178_8186dup, NW_016107297.1:g.8177_8186dup, NW_016107297.1:g.8176_8186dup, NW_016107297.1:g.8175_8186dup, NW_016107297.1:g.8173_8186dup, NW_016107297.1:g.8172_8186dup, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_016107297.1:g.8186_8187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                    10.

                    rs1491429521 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      5:21471640 (GRCh38)
                      5:21471750 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:21471640:T:TT
                      Gene:
                      GUSBP1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TT=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1491428211 has merged into rs5866515 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
                        Chromosome:
                        5:21567386 (GRCh38)
                        5:21567495 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:21567376:TTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:21567376:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:21567376:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:21567376:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:21567376:TTTTTTTTTTTT:TTTTTTTTTTTTTT
                        Gene:
                        GUSBP1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTT=0.0078/51 (ALFA)
                        T=0.425/17 (GENOME_DK)
                        T=0.4794/2033 (1000Genomes)
                        HGVS:

                        12.

                        rs1491413831 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GT>- [Show Flanks]
                          Chromosome:
                          5:21474669 (GRCh38)
                          5:21474778 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:21474668:GT:
                          Gene:
                          GUSBP1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.000084/1 (ALFA)
                          -=0.000088/12 (GnomAD)
                          -=0.000147/39 (TOPMED)
                          HGVS:

                          13.

                          rs1491401608 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            5:21491185 (GRCh38)
                            5:21491294 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:21491184:CA:
                            Gene:
                            GUSBP1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.00008/1 (ALFA)
                            -=0.00098/27 (TOMMO)
                            HGVS:

                            14.

                            rs1491385348 has merged into rs1157352716 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              5:21473298 (GRCh38)
                              5:21473407 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21473287:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              GUSBP1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.149196/575 (ALSPAC)
                              -=0.149946/556 (TWINSUK)
                              HGVS:
                              NC_000005.10:g.21473298_21473311del, NC_000005.10:g.21473299_21473311del, NC_000005.10:g.21473300_21473311del, NC_000005.10:g.21473301_21473311del, NC_000005.10:g.21473302_21473311del, NC_000005.10:g.21473303_21473311del, NC_000005.10:g.21473304_21473311del, NC_000005.10:g.21473305_21473311del, NC_000005.10:g.21473306_21473311del, NC_000005.10:g.21473307_21473311del, NC_000005.10:g.21473308_21473311del, NC_000005.10:g.21473309_21473311del, NC_000005.10:g.21473310_21473311del, NC_000005.10:g.21473311del, NC_000005.10:g.21473311dup, NC_000005.10:g.21473310_21473311dup, NC_000005.10:g.21473309_21473311dup, NC_000005.10:g.21473308_21473311dup, NC_000005.10:g.21473307_21473311dup, NC_000005.10:g.21473306_21473311dup, NC_000005.10:g.21473305_21473311dup, NC_000005.10:g.21473304_21473311dup, NC_000005.10:g.21473303_21473311dup, NC_000005.10:g.21473302_21473311dup, NC_000005.10:g.21473301_21473311dup, NC_000005.10:g.21473300_21473311dup, NC_000005.10:g.21473299_21473311dup, NC_000005.10:g.21473298_21473311dup, NC_000005.10:g.21473297_21473311dup, NC_000005.10:g.21473296_21473311dup, NC_000005.10:g.21473295_21473311dup, NC_000005.10:g.21473294_21473311dup, NC_000005.10:g.21473293_21473311dup, NC_000005.10:g.21473292_21473311dup, NC_000005.10:g.21473291_21473311dup, NC_000005.10:g.21473290_21473311dup, NC_000005.10:g.21473289_21473311dup, NC_000005.10:g.21473288_21473311dup, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.21473311_21473312insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473407_21473420del, NC_000005.9:g.21473408_21473420del, NC_000005.9:g.21473409_21473420del, NC_000005.9:g.21473410_21473420del, NC_000005.9:g.21473411_21473420del, NC_000005.9:g.21473412_21473420del, NC_000005.9:g.21473413_21473420del, NC_000005.9:g.21473414_21473420del, NC_000005.9:g.21473415_21473420del, NC_000005.9:g.21473416_21473420del, NC_000005.9:g.21473417_21473420del, NC_000005.9:g.21473418_21473420del, NC_000005.9:g.21473419_21473420del, NC_000005.9:g.21473420del, NC_000005.9:g.21473420dup, NC_000005.9:g.21473419_21473420dup, NC_000005.9:g.21473418_21473420dup, NC_000005.9:g.21473417_21473420dup, NC_000005.9:g.21473416_21473420dup, NC_000005.9:g.21473415_21473420dup, NC_000005.9:g.21473414_21473420dup, NC_000005.9:g.21473413_21473420dup, NC_000005.9:g.21473412_21473420dup, NC_000005.9:g.21473411_21473420dup, NC_000005.9:g.21473410_21473420dup, NC_000005.9:g.21473409_21473420dup, NC_000005.9:g.21473408_21473420dup, NC_000005.9:g.21473407_21473420dup, NC_000005.9:g.21473406_21473420dup, NC_000005.9:g.21473405_21473420dup, NC_000005.9:g.21473404_21473420dup, NC_000005.9:g.21473403_21473420dup, NC_000005.9:g.21473402_21473420dup, NC_000005.9:g.21473401_21473420dup, NC_000005.9:g.21473400_21473420dup, NC_000005.9:g.21473399_21473420dup, NC_000005.9:g.21473398_21473420dup, NC_000005.9:g.21473397_21473420dup, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21473420_21473421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.22593_22606del, NW_016107297.1:g.22594_22606del, NW_016107297.1:g.22595_22606del, NW_016107297.1:g.22596_22606del, NW_016107297.1:g.22597_22606del, NW_016107297.1:g.22598_22606del, NW_016107297.1:g.22599_22606del, NW_016107297.1:g.22600_22606del, NW_016107297.1:g.22601_22606del, NW_016107297.1:g.22602_22606del, NW_016107297.1:g.22603_22606del, NW_016107297.1:g.22604_22606del, NW_016107297.1:g.22605_22606del, NW_016107297.1:g.22606del, NW_016107297.1:g.22606dup, NW_016107297.1:g.22605_22606dup, NW_016107297.1:g.22604_22606dup, NW_016107297.1:g.22603_22606dup, NW_016107297.1:g.22602_22606dup, NW_016107297.1:g.22601_22606dup, NW_016107297.1:g.22600_22606dup, NW_016107297.1:g.22599_22606dup, NW_016107297.1:g.22598_22606dup, NW_016107297.1:g.22597_22606dup, NW_016107297.1:g.22596_22606dup, NW_016107297.1:g.22595_22606dup, NW_016107297.1:g.22594_22606dup, NW_016107297.1:g.22593_22606dup, NW_016107297.1:g.22592_22606dup, NW_016107297.1:g.22591_22606dup, NW_016107297.1:g.22590_22606dup, NW_016107297.1:g.22589_22606dup, NW_016107297.1:g.22588_22606dup, NW_016107297.1:g.22587_22606dup, NW_016107297.1:g.22586_22606dup, NW_016107297.1:g.22585_22606dup, NW_016107297.1:g.22584_22606dup, NW_016107297.1:g.22583_22606dup, NW_016107297.1:g.22582_22606dup, NW_016107297.1:g.22581_22606dup, NW_016107297.1:g.22580_22606dup, NW_016107297.1:g.22579_22606dup, NW_016107297.1:g.22606_22607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.22606_22607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.22606_22607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.22606_22607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                              15.

                              rs1491370727 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                5:21489458 (GRCh38)
                                5:21489568 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:21489458::A
                                Gene:
                                GUSBP1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491360446 has merged into rs66488026 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  5:21584422 (GRCh38)
                                  5:21584531 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:21584411:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  GUSBP1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTT=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.429712/2152 (1000Genomes)
                                  HGVS:
                                  NC_000005.10:g.21584422_21584430del, NC_000005.10:g.21584424_21584430del, NC_000005.10:g.21584426_21584430del, NC_000005.10:g.21584427_21584430del, NC_000005.10:g.21584428_21584430del, NC_000005.10:g.21584429_21584430del, NC_000005.10:g.21584430del, NC_000005.10:g.21584430dup, NC_000005.10:g.21584429_21584430dup, NC_000005.10:g.21584428_21584430dup, NC_000005.10:g.21584427_21584430dup, NC_000005.10:g.21584426_21584430dup, NC_000005.10:g.21584425_21584430dup, NC_000005.10:g.21584424_21584430dup, NC_000005.10:g.21584423_21584430dup, NC_000005.10:g.21584422_21584430dup, NC_000005.10:g.21584421_21584430dup, NC_000005.10:g.21584420_21584430dup, NC_000005.10:g.21584419_21584430dup, NC_000005.10:g.21584418_21584430dup, NC_000005.10:g.21584417_21584430dup, NC_000005.10:g.21584430_21584431insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.21584531_21584539del, NC_000005.9:g.21584533_21584539del, NC_000005.9:g.21584535_21584539del, NC_000005.9:g.21584536_21584539del, NC_000005.9:g.21584537_21584539del, NC_000005.9:g.21584538_21584539del, NC_000005.9:g.21584539del, NC_000005.9:g.21584539dup, NC_000005.9:g.21584538_21584539dup, NC_000005.9:g.21584537_21584539dup, NC_000005.9:g.21584536_21584539dup, NC_000005.9:g.21584535_21584539dup, NC_000005.9:g.21584534_21584539dup, NC_000005.9:g.21584533_21584539dup, NC_000005.9:g.21584532_21584539dup, NC_000005.9:g.21584531_21584539dup, NC_000005.9:g.21584530_21584539dup, NC_000005.9:g.21584529_21584539dup, NC_000005.9:g.21584528_21584539dup, NC_000005.9:g.21584527_21584539dup, NC_000005.9:g.21584526_21584539dup, NC_000005.9:g.21584539_21584540insTTTTTTTTTTTTTTTTTTTTT, NW_016107297.1:g.233562_233570del, NW_016107297.1:g.233564_233570del, NW_016107297.1:g.233566_233570del, NW_016107297.1:g.233567_233570del, NW_016107297.1:g.233568_233570del, NW_016107297.1:g.233569_233570del, NW_016107297.1:g.233570del, NW_016107297.1:g.233570dup, NW_016107297.1:g.233569_233570dup, NW_016107297.1:g.233568_233570dup, NW_016107297.1:g.233567_233570dup, NW_016107297.1:g.233566_233570dup, NW_016107297.1:g.233565_233570dup, NW_016107297.1:g.233564_233570dup, NW_016107297.1:g.233563_233570dup, NW_016107297.1:g.233562_233570dup, NW_016107297.1:g.233561_233570dup, NW_016107297.1:g.233560_233570dup, NW_016107297.1:g.233559_233570dup, NW_016107297.1:g.233558_233570dup, NW_016107297.1:g.233557_233570dup, NW_016107297.1:g.233570_233571insTTTTTTTTTTTTTTTTTTTTT

                                  17.

                                  rs1491347539 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    ->C
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:

                                    18.

                                    rs1491346641 has merged into rs34018045 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      T>-,TT [Show Flanks]
                                      Chromosome:
                                      5:21569260 (GRCh38)
                                      5:21569369 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:21569259:TTTTTTTT:TTTTTTT,NC_000005.10:21569259:TTTTTTTT:TTTTTTTTT
                                      Gene:
                                      GUSBP1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTT=0.00007/1 (ALFA)
                                      -=0.00004/1 (TOMMO)
                                      -=0.00109/2 (Korea1K)
                                      HGVS:

                                      19.

                                      rs1491326251 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        ->C
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:

                                        20.

                                        rs1491317346 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->G
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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