| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178570640del | CA16042365 | TTN,TTN-AS1 | c.67788del (p.Phe22597LeufsTer7) c.48873del (p.Phe16292LeufsTer7) c.48672del (p.Phe16225LeufsTer7) c.48297del (p.Phe16100LeufsTer7) c.75492del (p.Phe25165LeufsTer7) c.70569del (p.Phe23524LeufsTer7) n.447-660del n.2044-11932del c.74589del (p.Phe24864LeufsTer7) c.48483del (p.Phe16162LeufsTer7) c.48342del (p.Phe16115LeufsTer7) c.74385del (p.Phe24796LeufsTer7) c.69783del (p.Phe23262LeufsTer7) c.69780del (p.Phe23261LeufsTer7) c.66822del (p.Phe22275LeufsTer7) c.48438del (p.Phe16147LeufsTer7) c.69933del (p.Phe23312LeufsTer7) c.69930del (p.Phe23311LeufsTer7) c.69363del (p.Phe23122LeufsTer7) c.66705del (p.Phe22236LeufsTer7) c.66624del (p.Phe22209LeufsTer7) c.48387del (p.Phe16130LeufsTer7) c.38241del (p.Phe12748LeufsTer7) | ClinVar dbSNP |
| 2 | g.178570640G= | CA3085915263 | TTN,TTN-AS1 | c.67788C= (p.Asp22596=) c.48873C= (p.Asp16291=) c.48672C= (p.Asp16224=) c.48297C= (p.Asp16099=) c.75492C= (p.Asp25164=) c.70569C= (p.Asp23523=) n.447-660G= n.2044-11932G= c.74589C= (p.Asp24863=) c.48483C= (p.Asp16161=) c.48342C= (p.Asp16114=) c.74385C= (p.Asp24795=) c.69783C= (p.Asp23261=) c.69780C= (p.Asp23260=) c.66822C= (p.Asp22274=) c.48438C= (p.Asp16146=) c.69933C= (p.Asp23311=) c.69930C= (p.Asp23310=) c.69363C= (p.Asp23121=) c.66705C= (p.Asp22235=) c.66624C= (p.Asp22208=) c.48387C= (p.Asp16129=) c.38241C= (p.Asp12747=) | dbSNP dbSNP |