| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432787G>A | CA084550 | ACTA1 | c.223C>T (p.His75Tyr) c.88C>T (p.His30Tyr) | ClinVar dbSNP |
| 1 | g.229432787G>T | CA38816563 | ACTA1 | c.223C>A (p.His75Asn) c.88C>A (p.His30Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432787G>C | CA345150528 | ACTA1 | c.223C>G (p.His75Asp) c.88C>G (p.His30Asp) | dbSNP |
| 1 | g.229432787G= | CA1143538618 | ACTA1 | c.223C= (p.His75=) c.88C= (p.His30=) | dbSNP |