| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229433109C>A | CA128031 | ACTA1 | c.7G>T (p.Asp3Tyr) c.-6-229G>T (n.-6-229G>T) | ClinVar dbSNP |
| 1 | g.229433109C= | CA1141581382 | ACTA1 | c.7G= (p.Asp3=) c.-6-229G= (n.-6-229G=) | dbSNP |
| 1 | g.229433109C>T | CA345151929 | ACTA1 | c.7G>A (p.Asp3Asn) c.-6-229G>A (n.-6-229G>A) | dbSNP gnomAD v4 COSMIC |