| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.26168729T>G | CA252973 | MYO3A | n.355T>G c.3129T>G (p.Tyr1043Ter) c.*1124T>G (n.*1124T>G) c.1777-43114T>G (n.1777-43114T>G) c.2766T>G (p.Tyr922Ter) c.1257T>G (p.Tyr419Ter) c.798T>G (p.Tyr266Ter) n.3333T>G | ClinVar dbSNP |
| 10 | g.26168729T= | CA1897911996 | MYO3A | n.355T= c.3129T= (p.Tyr1043=) c.*1124T= (n.*1124T=) c.1777-43114T= (n.1777-43114T=) c.2766T= (p.Tyr922=) c.1257T= (p.Tyr419=) c.798T= (p.Tyr266=) n.3333T= | dbSNP |