Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178618317_178618318delCA1039713733TTN,TTN-AS1c.39438_39439del (p.Cys13146Ter)
c.20523_20524del (p.Cys6841Ter)
c.20322_20323del (p.Cys6774Ter)
c.19947_19948del (p.Cys6649Ter)
c.47142_47143del (p.Cys15714Ter)
c.42219_42220del (p.Cys14073Ter)
n.1605-1436_1605-1435del
c.46239_46240del (p.Cys15413Ter)
c.20133_20134del (p.Cys6711Ter)
c.19992_19993del (p.Cys6664Ter)
c.46035_46036del (p.Cys15345Ter)
c.41433_41434del (p.Cys13811Ter)
c.41430_41431del (p.Cys13810Ter)
c.38472_38473del (p.Cys12824Ter)
c.20088_20089del (p.Cys6696Ter)
c.41583_41584del (p.Cys13861Ter)
c.41580_41581del (p.Cys13860Ter)
c.41013_41014del (p.Cys13671Ter)
c.38355_38356del (p.Cys12785Ter)
c.38274_38275del (p.Cys12758Ter)
c.20037_20038del (p.Cys6679Ter)
c.9891_9892del (p.Cys3297Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178618317_178618318dupCA353061TTN,TTN-AS1c.39438_39439dup (p.Glu13147ValfsTer19)
c.20523_20524dup (p.Glu6842ValfsTer19)
c.20322_20323dup (p.Glu6775ValfsTer19)
c.19947_19948dup (p.Glu6650ValfsTer19)
c.47142_47143dup (p.Glu15715ValfsTer19)
c.42219_42220dup (p.Glu14074ValfsTer19)
n.1605-1436_1605-1435dup
c.46239_46240dup (p.Glu15414ValfsTer19)
c.20133_20134dup (p.Glu6712ValfsTer19)
c.19992_19993dup (p.Glu6665ValfsTer19)
c.46035_46036dup (p.Glu15346ValfsTer19)
c.41433_41434dup (p.Glu13812ValfsTer19)
c.41430_41431dup (p.Glu13811ValfsTer19)
c.38472_38473dup (p.Glu12825ValfsTer19)
c.20088_20089dup (p.Glu6697ValfsTer19)
c.41583_41584dup (p.Glu13862ValfsTer19)
c.41580_41581dup (p.Glu13861ValfsTer19)
c.41013_41014dup (p.Glu13672ValfsTer19)
c.38355_38356dup (p.Glu12786ValfsTer19)
c.38274_38275dup (p.Glu12759ValfsTer19)
c.20037_20038dup (p.Glu6680ValfsTer19)
c.9891_9892dup (p.Glu3298ValfsTer19)
 ClinVar dbSNP

Number of alleles fetched