| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432063C>T | CA345146753 | ACTA1 | c.739G>A (p.Gly247Arg) c.604G>A (p.Gly202Arg) c.480-201G>A (n.480-201G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432063C>G | CA16603588 | ACTA1 | c.739G>C (p.Gly247Arg) c.604G>C (p.Gly202Arg) c.480-201G>C (n.480-201G>C) | ClinVar dbSNP |
| 1 | g.229432063C= | CA1226125632 | ACTA1 | c.739G= (p.Gly247=) c.604G= (p.Gly202=) c.480-201G= (n.480-201G=) | dbSNP |
| 1 | g.229432063C>A | CA345146750 | ACTA1 | c.739G>T (p.Gly247Trp) c.604G>T (p.Gly202Trp) c.480-201G>T (n.480-201G>T) | ClinVar dbSNP |