| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431727C>T | CA423754898 | ACTA1 | c.984G>A (p.Lys328=) c.849G>A (p.Lys283=) c.615G>A (p.Lys205=) | ClinVar dbSNP |
| 1 | g.229431727C>G | CA263209 | ACTA1 | c.984G>C (p.Lys328Asn) c.849G>C (p.Lys283Asn) c.615G>C (p.Lys205Asn) | ClinVar dbSNP |
| 1 | g.229431727C= | CA1144233513 | ACTA1 | c.984G= (p.Lys328=) c.849G= (p.Lys283=) c.615G= (p.Lys205=) | dbSNP |