| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178558118G>C | CA16604095 | TTN,TTN-AS1 | c.79532C>G (p.Ser26511Ter) c.60617C>G (p.Ser20206Ter) c.60416C>G (p.Ser20139Ter) c.60041C>G (p.Ser20014Ter) c.87236C>G (p.Ser29079Ter) c.82313C>G (p.Ser27438Ter) n.447-13182G>C n.2043+15757G>C c.86333C>G (p.Ser28778Ter) c.60227C>G (p.Ser20076Ter) c.60086C>G (p.Ser20029Ter) c.86129C>G (p.Ser28710Ter) c.81527C>G (p.Ser27176Ter) c.81524C>G (p.Ser27175Ter) c.78566C>G (p.Ser26189Ter) c.60182C>G (p.Ser20061Ter) c.81677C>G (p.Ser27226Ter) c.81674C>G (p.Ser27225Ter) c.81107C>G (p.Ser27036Ter) c.78449C>G (p.Ser26150Ter) c.78368C>G (p.Ser26123Ter) c.60131C>G (p.Ser20044Ter) c.49985C>G (p.Ser16662Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178558118G= | CA1310526074 | TTN,TTN-AS1 | c.79532C= (p.Ser26511=) c.60617C= (p.Ser20206=) c.60416C= (p.Ser20139=) c.60041C= (p.Ser20014=) c.87236C= (p.Ser29079=) c.82313C= (p.Ser27438=) n.447-13182G= n.2043+15757G= c.86333C= (p.Ser28778=) c.60227C= (p.Ser20076=) c.60086C= (p.Ser20029=) c.86129C= (p.Ser28710=) c.81527C= (p.Ser27176=) c.81524C= (p.Ser27175=) c.78566C= (p.Ser26189=) c.60182C= (p.Ser20061=) c.81677C= (p.Ser27226=) c.81674C= (p.Ser27225=) c.81107C= (p.Ser27036=) c.78449C= (p.Ser26150=) c.78368C= (p.Ser26123=) c.60131C= (p.Ser20044=) c.49985C= (p.Ser16662=) | dbSNP |