| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178618777A>T | CA261860 | TTN,TTN-AS1 | c.39069T>A (p.Tyr13023Ter) c.20154T>A (p.Tyr6718Ter) c.19953T>A (p.Tyr6651Ter) c.19578T>A (p.Tyr6526Ter) c.46773T>A (p.Tyr15591Ter) c.41850T>A (p.Tyr13950Ter) n.1605-976A>T c.45870T>A (p.Tyr15290Ter) c.19764T>A (p.Tyr6588Ter) c.19623T>A (p.Tyr6541Ter) c.45666T>A (p.Tyr15222Ter) c.41064T>A (p.Tyr13688Ter) c.41061T>A (p.Tyr13687Ter) c.38103T>A (p.Tyr12701Ter) c.19719T>A (p.Tyr6573Ter) c.41214T>A (p.Tyr13738Ter) c.41211T>A (p.Tyr13737Ter) c.40644T>A (p.Tyr13548Ter) c.37986T>A (p.Tyr12662Ter) c.37905T>A (p.Tyr12635Ter) c.19668T>A (p.Tyr6556Ter) c.9522T>A (p.Tyr3174Ter) | ClinVar dbSNP |
| 2 | g.178618777A>G | CA10613113 | TTN,TTN-AS1 | c.39069T>C (p.Tyr13023=) c.20154T>C (p.Tyr6718=) c.19953T>C (p.Tyr6651=) c.19578T>C (p.Tyr6526=) c.46773T>C (p.Tyr15591=) c.41850T>C (p.Tyr13950=) n.1605-976A>G c.45870T>C (p.Tyr15290=) c.19764T>C (p.Tyr6588=) c.19623T>C (p.Tyr6541=) c.45666T>C (p.Tyr15222=) c.41064T>C (p.Tyr13688=) c.41061T>C (p.Tyr13687=) c.38103T>C (p.Tyr12701=) c.19719T>C (p.Tyr6573=) c.41214T>C (p.Tyr13738=) c.41211T>C (p.Tyr13737=) c.40644T>C (p.Tyr13548=) c.37986T>C (p.Tyr12662=) c.37905T>C (p.Tyr12635=) c.19668T>C (p.Tyr6556=) c.9522T>C (p.Tyr3174=) | ClinVar dbSNP gnomAD v4 |