| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920814C>A | CA384905673 | ACVRL1 | c.1163C>A (p.Ala388Asp) c.1433C>A (p.Ala478Asp) c.911C>A (p.Ala304Asp) c.1475C>A (p.Ala492Asp) c.644C>A (p.Ala215Asp) | ClinVar dbSNP |
| 12 | g.51920814C>T | CA384905678 | ACVRL1 | c.1163C>T (p.Ala388Val) c.1433C>T (p.Ala478Val) c.911C>T (p.Ala304Val) c.1475C>T (p.Ala492Val) c.644C>T (p.Ala215Val) | dbSNP gnomAD v4 |
| 12 | g.51920814C= | CA2036241815 | ACVRL1 | c.1163C= (p.Ala388=) c.1433C= (p.Ala478=) c.911C= (p.Ala304=) c.1475C= (p.Ala492=) c.644C= (p.Ala215=) | dbSNP |