| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431626T>G | CA128033 | ACTA1 | c.991-62A>C (n.991-62A>C) c.872A>C (p.Glu291Ala) c.638A>C (p.Glu213Ala) c.1007A>C (p.Glu336Ala) | ClinVar dbSNP |
| 1 | g.229431626T>C | CA38814782 | ACTA1 | c.991-62A>G (n.991-62A>G) c.872A>G (p.Glu291Gly) c.638A>G (p.Glu213Gly) c.1007A>G (p.Glu336Gly) | dbSNP |
| 1 | g.229431626T= | CA1141581371 | ACTA1 | c.991-62A= (n.991-62A=) c.872A= (p.Glu291=) c.638A= (p.Glu213=) c.1007A= (p.Glu336=) | dbSNP |