| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178535790G>A | CA16042374 | TTN,TTN-AS1 | c.93121C>T (p.Arg31041Ter) c.74206C>T (p.Arg24736Ter) c.74005C>T (p.Arg24669Ter) c.73630C>T (p.Arg24544Ter) c.100825C>T (p.Arg33609Ter) c.95902C>T (p.Arg31968Ter) n.446+12154G>A n.278G>A c.99922C>T (p.Arg33308Ter) c.73816C>T (p.Arg24606Ter) c.73675C>T (p.Arg24559Ter) c.99718C>T (p.Arg33240Ter) c.95116C>T (p.Arg31706Ter) c.95113C>T (p.Arg31705Ter) c.92155C>T (p.Arg30719Ter) c.73771C>T (p.Arg24591Ter) c.95266C>T (p.Arg31756Ter) c.95263C>T (p.Arg31755Ter) c.94696C>T (p.Arg31566Ter) c.92038C>T (p.Arg30680Ter) c.91957C>T (p.Arg30653Ter) c.73720C>T (p.Arg24574Ter) c.63574C>T (p.Arg21192Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178535790G= | CA1310519637 | TTN,TTN-AS1 | c.93121C= (p.Arg31041=) c.74206C= (p.Arg24736=) c.74005C= (p.Arg24669=) c.73630C= (p.Arg24544=) c.100825C= (p.Arg33609=) c.95902C= (p.Arg31968=) n.446+12154G= n.278G= c.99922C= (p.Arg33308=) c.73816C= (p.Arg24606=) c.73675C= (p.Arg24559=) c.99718C= (p.Arg33240=) c.95116C= (p.Arg31706=) c.95113C= (p.Arg31705=) c.92155C= (p.Arg30719=) c.73771C= (p.Arg24591=) c.95266C= (p.Arg31756=) c.95263C= (p.Arg31755=) c.94696C= (p.Arg31566=) c.92038C= (p.Arg30680=) c.91957C= (p.Arg30653=) c.73720C= (p.Arg24574=) c.63574C= (p.Arg21192=) | dbSNP |