| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432393C>T | CA258144 | ACTA1 | c.493G>A (p.Val165Met) c.358G>A (p.Val120Met) c.479+14G>A (n.479+14G>A) | ClinVar dbSNP COSMIC |
| 1 | g.229432393C>G | CA345148678 | ACTA1 | c.493G>C (p.Val165Leu) c.358G>C (p.Val120Leu) c.479+14G>C (n.479+14G>C) | ClinVar dbSNP |
| 1 | g.229432393C>A | CA258134 | ACTA1 | c.493G>T (p.Val165Leu) c.358G>T (p.Val120Leu) c.479+14G>T (n.479+14G>T) | ClinVar dbSNP |
| 1 | g.229432393C= | CA1141581377 | ACTA1 | c.493G= (p.Val165=) c.358G= (p.Val120=) c.479+14G= (n.479+14G=) | dbSNP |