| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432295C>G | CA345147944 | ACTA1 | c.591G>C (p.Glu197Asp) c.456G>C (p.Glu152Asp) c.479+112G>C (n.479+112G>C) | ClinVar dbSNP |
| 1 | g.229432295C>A | CA353465 | ACTA1 | c.591G>T (p.Glu197Asp) c.456G>T (p.Glu152Asp) c.479+112G>T (n.479+112G>T) | ClinVar dbSNP |
| 1 | g.229432295C>T | CA423755361 | ACTA1 | c.591G>A (p.Glu197=) c.456G>A (p.Glu152=) c.479+112G>A (n.479+112G>A) | dbSNP gnomAD v4 |
| 1 | g.229432295C= | CA1226125729 | ACTA1 | c.591G= (p.Glu197=) c.456G= (p.Glu152=) c.479+112G= (n.479+112G=) | dbSNP |