| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920841A>C | CA384905912 | ACVRL1 | c.1190A>C (p.Lys397Thr) c.1460A>C (p.Lys487Thr) c.938A>C (p.Lys313Thr) c.1502A>C (p.Lys501Thr) c.671A>C (p.Lys224Thr) | ClinVar dbSNP |
| 12 | g.51920841A= | CA2036241937 | ACVRL1 | c.1190A= (p.Lys397=) c.1460A= (p.Lys487=) c.938A= (p.Lys313=) c.1502A= (p.Lys501=) c.671A= (p.Lys224=) | dbSNP |