| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229433067C>T | CA345151652 | ACTA1 | c.49G>A (p.Gly17Ser) c.-6-187G>A (n.-6-187G>A) | ClinVar dbSNP |
| 1 | g.229433067C>G | CA128029 | ACTA1 | c.49G>C (p.Gly17Arg) c.-6-187G>C (n.-6-187G>C) | ClinVar dbSNP |
| 1 | g.229433067C= | CA1141581381 | ACTA1 | c.49G= (p.Gly17=) c.-6-187G= (n.-6-187G=) | dbSNP |