| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432181C>G | CA344560 | ACTA1 | c.621G>C (p.Glu207Asp) c.486G>C (p.Glu162Asp) c.479+226G>C (n.479+226G>C) | ClinVar dbSNP |
| 1 | g.229432181C= | CA1143538617 | ACTA1 | c.621G= (p.Glu207=) c.486G= (p.Glu162=) c.479+226G= (n.479+226G=) | dbSNP |