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1.

rs1491475393 has merged into rs748123040 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    17:44765619 (GRCh38)
    17:42842987 (GRCh37)
    Canonical SPDI:
    NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:44765610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ADAM11 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000017.11:g.44765619_44765633del, NC_000017.11:g.44765620_44765633del, NC_000017.11:g.44765621_44765633del, NC_000017.11:g.44765622_44765633del, NC_000017.11:g.44765623_44765633del, NC_000017.11:g.44765624_44765633del, NC_000017.11:g.44765625_44765633del, NC_000017.11:g.44765626_44765633del, NC_000017.11:g.44765627_44765633del, NC_000017.11:g.44765628_44765633del, NC_000017.11:g.44765629_44765633del, NC_000017.11:g.44765630_44765633del, NC_000017.11:g.44765631_44765633del, NC_000017.11:g.44765632_44765633del, NC_000017.11:g.44765633del, NC_000017.11:g.44765633dup, NC_000017.11:g.44765632_44765633dup, NC_000017.11:g.44765631_44765633dup, NC_000017.11:g.44765630_44765633dup, NC_000017.11:g.44765629_44765633dup, NC_000017.11:g.44765628_44765633dup, NC_000017.11:g.44765627_44765633dup, NC_000017.11:g.44765626_44765633dup, NC_000017.11:g.44765625_44765633dup, NC_000017.11:g.44765611_44765633T[32]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765624_44765633dup, NC_000017.11:g.44765611_44765633T[33]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765611_44765633T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765611_44765633T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765623_44765633dup, NC_000017.11:g.44765611_44765633T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765622_44765633dup, NC_000017.11:g.44765611_44765633T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765621_44765633dup, NC_000017.11:g.44765620_44765633dup, NC_000017.11:g.44765611_44765633T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765619_44765633dup, NC_000017.11:g.44765618_44765633dup, NC_000017.11:g.44765617_44765633dup, NC_000017.11:g.44765616_44765633dup, NC_000017.11:g.44765615_44765633dup, NC_000017.11:g.44765614_44765633dup, NC_000017.11:g.44765613_44765633dup, NC_000017.11:g.44765612_44765633dup, NC_000017.11:g.44765611_44765633dup, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765611_44765633T[53]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.44765633_44765634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42842987_42843001del, NC_000017.10:g.42842988_42843001del, NC_000017.10:g.42842989_42843001del, NC_000017.10:g.42842990_42843001del, NC_000017.10:g.42842991_42843001del, NC_000017.10:g.42842992_42843001del, NC_000017.10:g.42842993_42843001del, NC_000017.10:g.42842994_42843001del, NC_000017.10:g.42842995_42843001del, NC_000017.10:g.42842996_42843001del, NC_000017.10:g.42842997_42843001del, NC_000017.10:g.42842998_42843001del, NC_000017.10:g.42842999_42843001del, NC_000017.10:g.42843000_42843001del, NC_000017.10:g.42843001del, NC_000017.10:g.42843001dup, NC_000017.10:g.42843000_42843001dup, NC_000017.10:g.42842999_42843001dup, NC_000017.10:g.42842998_42843001dup, NC_000017.10:g.42842997_42843001dup, NC_000017.10:g.42842996_42843001dup, NC_000017.10:g.42842995_42843001dup, NC_000017.10:g.42842994_42843001dup, NC_000017.10:g.42842993_42843001dup, NC_000017.10:g.42842979_42843001T[32]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42842992_42843001dup, NC_000017.10:g.42842979_42843001T[33]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42842979_42843001T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42842979_42843001T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42842991_42843001dup, NC_000017.10:g.42842979_42843001T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42842990_42843001dup, NC_000017.10:g.42842979_42843001T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42842989_42843001dup, NC_000017.10:g.42842988_42843001dup, NC_000017.10:g.42842979_42843001T[37]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42842987_42843001dup, NC_000017.10:g.42842986_42843001dup, NC_000017.10:g.42842985_42843001dup, NC_000017.10:g.42842984_42843001dup, NC_000017.10:g.42842983_42843001dup, NC_000017.10:g.42842982_42843001dup, NC_000017.10:g.42842981_42843001dup, NC_000017.10:g.42842980_42843001dup, NC_000017.10:g.42842979_42843001dup, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42842979_42843001T[53]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.42843001_42843002insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491242183 has merged into rs573649672 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
      Chromosome:
      17:44780563 (GRCh38)
      17:42857931 (GRCh37)
      Canonical SPDI:
      NC_000017.11:44780556:GGGGGGGG:GGGGGG,NC_000017.11:44780556:GGGGGGGG:GGGGGGG,NC_000017.11:44780556:GGGGGGGG:GGGGGGGGG,NC_000017.11:44780556:GGGGGGGG:GGGGGGGGGG,NC_000017.11:44780556:GGGGGGGG:GGGGGGGGGGG
      Gene:
      ADAM11 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGG=0./0 (ALFA)
      -=0.37/1372 (TWINSUK)
      -=0.376/1679 (Estonian)
      -=0.3876/1494 (ALSPAC)
      -=0.395/237 (NorthernSweden)
      -=0.4/16 (GENOME_DK)
      -=0.4138/413 (GoNL)
      -=0.4449/2228 (1000Genomes)
      HGVS:
      NC_000017.11:g.44780563_44780564del, NC_000017.11:g.44780564del, NC_000017.11:g.44780564dup, NC_000017.11:g.44780563_44780564dup, NC_000017.11:g.44780562_44780564dup, NC_000017.10:g.42857931_42857932del, NC_000017.10:g.42857932del, NC_000017.10:g.42857932dup, NC_000017.10:g.42857931_42857932dup, NC_000017.10:g.42857930_42857932dup, NM_002390.6:c.*809_*810del, NM_002390.6:c.*810del, NM_002390.6:c.*810dup, NM_002390.6:c.*809_*810dup, NM_002390.6:c.*808_*810dup, NM_002390.5:c.*809_*810del, NM_002390.5:c.*810del, NM_002390.5:c.*810dup, NM_002390.5:c.*809_*810dup, NM_002390.5:c.*808_*810dup, NM_002390.4:c.*809_*810del, NM_002390.4:c.*810del, NM_002390.4:c.*810dup, NM_002390.4:c.*809_*810dup, NM_002390.4:c.*808_*810dup, XM_005257373.5:c.*1293_*1294del, XM_005257373.5:c.*1294del, XM_005257373.5:c.*1294dup, XM_005257373.5:c.*1293_*1294dup, XM_005257373.5:c.*1292_*1294dup, XM_005257373.4:c.*1293_*1294del, XM_005257373.4:c.*1294del, XM_005257373.4:c.*1294dup, XM_005257373.4:c.*1293_*1294dup, XM_005257373.4:c.*1292_*1294dup, XM_005257373.3:c.*1293_*1294del, XM_005257373.3:c.*1294del, XM_005257373.3:c.*1294dup, XM_005257373.3:c.*1293_*1294dup, XM_005257373.3:c.*1292_*1294dup, XM_005257373.2:c.*1293_*1294del, XM_005257373.2:c.*1294del, XM_005257373.2:c.*1294dup, XM_005257373.2:c.*1293_*1294dup, XM_005257373.2:c.*1292_*1294dup, XM_005257373.1:c.*1293_*1294del, XM_005257373.1:c.*1294del, XM_005257373.1:c.*1294dup, XM_005257373.1:c.*1293_*1294dup, XM_005257373.1:c.*1292_*1294dup, NM_001318933.2:c.*809_*810del, NM_001318933.2:c.*810del, NM_001318933.2:c.*810dup, NM_001318933.2:c.*809_*810dup, NM_001318933.2:c.*808_*810dup, NM_001318933.1:c.*809_*810del, NM_001318933.1:c.*810del, NM_001318933.1:c.*810dup, NM_001318933.1:c.*809_*810dup, NM_001318933.1:c.*808_*810dup, XM_047436083.1:c.*1293_*1294del, XM_047436083.1:c.*1294del, XM_047436083.1:c.*1294dup, XM_047436083.1:c.*1293_*1294dup, XM_047436083.1:c.*1292_*1294dup

      3.

      rs1491241393 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        17:44771314 (GRCh38)
        17:42848683 (GRCh37)
        Canonical SPDI:
        NC_000017.11:44771314::C
        Gene:
        ADAM11 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000084/1 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1491150290 has merged into rs754119100 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC [Show Flanks]
          Chromosome:
          17:44770494 (GRCh38)
          17:42847862 (GRCh37)
          Canonical SPDI:
          NC_000017.11:44770488:CCCCCCCCCCC:CCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:44770488:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
          Gene:
          ADAM11 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCCCCCCC=0./0 (ALFA)
          -=0.125/5 (GENOME_DK)
          -=0.4572/1762 (ALSPAC)
          HGVS:
          NC_000017.11:g.44770494_44770499del, NC_000017.11:g.44770495_44770499del, NC_000017.11:g.44770496_44770499del, NC_000017.11:g.44770497_44770499del, NC_000017.11:g.44770498_44770499del, NC_000017.11:g.44770499del, NC_000017.11:g.44770499dup, NC_000017.11:g.44770498_44770499dup, NC_000017.11:g.44770492_44770499dup, NC_000017.11:g.44770491_44770499dup, NC_000017.11:g.44770489_44770499dup, NC_000017.11:g.44770499_44770500insCCCCCCCCCCCC, NC_000017.10:g.42847862_42847867del, NC_000017.10:g.42847863_42847867del, NC_000017.10:g.42847864_42847867del, NC_000017.10:g.42847865_42847867del, NC_000017.10:g.42847866_42847867del, NC_000017.10:g.42847867del, NC_000017.10:g.42847867dup, NC_000017.10:g.42847866_42847867dup, NC_000017.10:g.42847860_42847867dup, NC_000017.10:g.42847859_42847867dup, NC_000017.10:g.42847857_42847867dup, NC_000017.10:g.42847867_42847868insCCCCCCCCCCCC

          5.

          rs1491142949 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            17:44778714 (GRCh38)
            17:42856082 (GRCh37)
            Canonical SPDI:
            NC_000017.11:44778712:AGA:A
            Gene:
            ADAM11 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            -=0.00058/10 (TOMMO)
            HGVS:

            6.

            rs1491137654 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              17:44778688 (GRCh38)
              17:42856056 (GRCh37)
              Canonical SPDI:
              NC_000017.11:44778687:CA:
              Gene:
              ADAM11 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:

              7.

              rs1491052517 has merged into rs72428475 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                17:44767365 (GRCh38)
                17:42844733 (GRCh37)
                Canonical SPDI:
                NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:44767354:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                ADAM11 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000017.11:g.44767365_44767377del, NC_000017.11:g.44767366_44767377del, NC_000017.11:g.44767367_44767377del, NC_000017.11:g.44767368_44767377del, NC_000017.11:g.44767371_44767377del, NC_000017.11:g.44767372_44767377del, NC_000017.11:g.44767373_44767377del, NC_000017.11:g.44767374_44767377del, NC_000017.11:g.44767375_44767377del, NC_000017.11:g.44767376_44767377del, NC_000017.11:g.44767377del, NC_000017.11:g.44767377dup, NC_000017.11:g.44767376_44767377dup, NC_000017.11:g.44767375_44767377dup, NC_000017.11:g.44767374_44767377dup, NC_000017.11:g.44767373_44767377dup, NC_000017.11:g.44767372_44767377dup, NC_000017.10:g.42844733_42844745del, NC_000017.10:g.42844734_42844745del, NC_000017.10:g.42844735_42844745del, NC_000017.10:g.42844736_42844745del, NC_000017.10:g.42844739_42844745del, NC_000017.10:g.42844740_42844745del, NC_000017.10:g.42844741_42844745del, NC_000017.10:g.42844742_42844745del, NC_000017.10:g.42844743_42844745del, NC_000017.10:g.42844744_42844745del, NC_000017.10:g.42844745del, NC_000017.10:g.42844745dup, NC_000017.10:g.42844744_42844745dup, NC_000017.10:g.42844743_42844745dup, NC_000017.10:g.42844742_42844745dup, NC_000017.10:g.42844741_42844745dup, NC_000017.10:g.42844740_42844745dup

                8.

                rs1490987641 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:44776917 (GRCh38)
                  17:42854285 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:44776916:C:T
                  Gene:
                  ADAM11 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000031/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1490905550 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    17:44776280 (GRCh38)
                    17:42853648 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:44776279:G:C
                    Gene:
                    ADAM11 (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:

                    10.

                    rs1490875800 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CTCTTTTTTTT>- [Show Flanks]
                      Chromosome:
                      17:44765608 (GRCh38)
                      17:42842976 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:44765603:TTTTCTCTTTTTTTT:TTTT
                      Gene:
                      ADAM11 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TTTT=0.00008/1 (ALFA)
                      HGVS:

                      11.

                      rs1490486507 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        17:44773347 (GRCh38)
                        17:42850715 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:44773346:C:A
                        Gene:
                        ADAM11 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490261249 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          17:44758681 (GRCh38)
                          17:42836049 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:44758680:C:A,NC_000017.11:44758680:C:T
                          Gene:
                          ADAM11 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490182183 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:44773007 (GRCh38)
                            17:42850375 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:44773006:C:T
                            Gene:
                            ADAM11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490138051 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              17:44774694 (GRCh38)
                              17:42852062 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:44774693:T:C
                              Gene:
                              ADAM11 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000009/2 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1490094913 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:44781273 (GRCh38)
                                17:42858641 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:44781272:C:T
                                Gene:
                                ADAM11 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1489920305 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  17:44767354 (GRCh38)
                                  17:42844722 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:44767353:C:A,NC_000017.11:44767353:C:T
                                  Gene:
                                  ADAM11 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.01017/282 (TOMMO)
                                  A=0.13525/396 (KOREAN)
                                  HGVS:

                                  17.

                                  rs1489840054 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    17:44773724 (GRCh38)
                                    17:42851092 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:44773723:G:C
                                    Gene:
                                    ADAM11 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489495894 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      17:44757060 (GRCh38)
                                      17:42834428 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:44757059:G:A,NC_000017.11:44757059:G:T
                                      Gene:
                                      ADAM11 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1489495294 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:44779845 (GRCh38)
                                        17:42857213 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:44779844:G:A
                                        Gene:
                                        ADAM11 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1489454898 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          17:44779589 (GRCh38)
                                          17:42856957 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:44779588:A:G,NC_000017.11:44779588:A:T
                                          Gene:
                                          ADAM11 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          T=0.00068/2 (KOREAN)
                                          HGVS:

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