| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178546612G>A | CA16610333 | TTN,TTN-AS1 | c.87112C>T (p.Arg29038Ter) c.68197C>T (p.Arg22733Ter) c.67996C>T (p.Arg22666Ter) c.67621C>T (p.Arg22541Ter) c.94816C>T (p.Arg31606Ter) c.89893C>T (p.Arg29965Ter) n.446+22976G>A n.2043+4251G>A c.93913C>T (p.Arg31305Ter) c.67807C>T (p.Arg22603Ter) c.67666C>T (p.Arg22556Ter) c.93709C>T (p.Arg31237Ter) c.89107C>T (p.Arg29703Ter) c.89104C>T (p.Arg29702Ter) c.86146C>T (p.Arg28716Ter) c.67762C>T (p.Arg22588Ter) c.89257C>T (p.Arg29753Ter) c.89254C>T (p.Arg29752Ter) c.88687C>T (p.Arg29563Ter) c.86029C>T (p.Arg28677Ter) c.85948C>T (p.Arg28650Ter) c.67711C>T (p.Arg22571Ter) c.57565C>T (p.Arg19189Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178546612G= | CA1310523245 | TTN,TTN-AS1 | c.87112C= (p.Arg29038=) c.68197C= (p.Arg22733=) c.67996C= (p.Arg22666=) c.67621C= (p.Arg22541=) c.94816C= (p.Arg31606=) c.89893C= (p.Arg29965=) n.446+22976G= n.2043+4251G= c.93913C= (p.Arg31305=) c.67807C= (p.Arg22603=) c.67666C= (p.Arg22556=) c.93709C= (p.Arg31237=) c.89107C= (p.Arg29703=) c.89104C= (p.Arg29702=) c.86146C= (p.Arg28716=) c.67762C= (p.Arg22588=) c.89257C= (p.Arg29753=) c.89254C= (p.Arg29752=) c.88687C= (p.Arg29563=) c.86029C= (p.Arg28677=) c.85948C= (p.Arg28650=) c.67711C= (p.Arg22571=) c.57565C= (p.Arg19189=) | dbSNP |