| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431558T>G | CA258138 | ACTA1 | c.997A>C (p.Ile333Leu) c.940A>C (p.Ile314Leu) c.706A>C (p.Ile236Leu) c.1075A>C (p.Ile359Leu) | ClinVar dbSNP |
| 1 | g.229431558T= | CA1141581370 | ACTA1 | c.997A= (p.Ile333=) c.940A= (p.Ile314=) c.706A= (p.Ile236=) c.1075A= (p.Ile359=) | dbSNP |
| 1 | g.229431558T>C | CA345144440 | ACTA1 | c.997A>G (p.Ile333Val) c.940A>G (p.Ile314Val) c.706A>G (p.Ile236Val) c.1075A>G (p.Ile359Val) | ClinVar dbSNP |