| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178782980A>G | CA256496 | TTN | c.2926T>C (p.Trp976Arg) c.2788T>C (p.Trp930Arg) c.2974T>C (p.Trp992Arg) c.2833T>C (p.Trp945Arg) c.2971T>C (p.Trp991Arg) c.2929T>C (p.Trp977Arg) | ClinVar dbSNP |
| 2 | g.178782980A>T | CA60981245 | TTN | c.2926T>A (p.Trp976Arg) c.2788T>A (p.Trp930Arg) c.2974T>A (p.Trp992Arg) c.2833T>A (p.Trp945Arg) c.2971T>A (p.Trp991Arg) c.2929T>A (p.Trp977Arg) | dbSNP |
| 2 | g.178782980A= | CA1310620340 | TTN | c.2926T= (p.Trp976=) c.2788T= (p.Trp930=) c.2974T= (p.Trp992=) c.2833T= (p.Trp945=) c.2971T= (p.Trp991=) c.2929T= (p.Trp977=) | dbSNP |