| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229433100C>T | CA344557 | ACTA1 | c.16G>A (p.Glu6Lys) c.-6-220G>A (n.-6-220G>A) | ClinVar dbSNP COSMIC |
| 1 | g.229433100C>A | CA1442951 | ACTA1 | c.16G>T (p.Glu6Ter) c.-6-220G>T (n.-6-220G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229433100C= | CA1143538621 | ACTA1 | c.16G= (p.Glu6=) c.-6-220G= (n.-6-220G=) | dbSNP |