| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431994C>A | CA258140 | ACTA1 | c.808G>T (p.Gly270Cys) c.673G>T (p.Gly225Cys) c.480-132G>T (n.480-132G>T) | ClinVar dbSNP |
| 1 | g.229431994C>G | CA10576392 | ACTA1 | c.808G>C (p.Gly270Arg) c.673G>C (p.Gly225Arg) c.480-132G>C (n.480-132G>C) | ClinVar dbSNP |
| 1 | g.229431994C= | CA1141581374 | ACTA1 | c.808G= (p.Gly270=) c.673G= (p.Gly225=) c.480-132G= (n.480-132G=) | dbSNP |
| 1 | g.229431994C>T | CA345146383 | ACTA1 | c.808G>A (p.Gly270Ser) c.673G>A (p.Gly225Ser) c.480-132G>A (n.480-132G>A) | ClinVar dbSNP gnomAD v4 COSMIC |