| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913339del | CA16619568 | ACVRL1 | c.344del (p.Leu115ArgfsTer?) c.302del (p.Leu101ArgfsTer21) c.103+804del (n.103+804del) c.344del (p.Leu115ArgfsTer21) c.-388del (n.-388del) | ClinVar dbSNP |
| 12 | g.51913339T= | CA3192155745 | ACVRL1 | c.344T= (p.Leu115=) c.302T= (p.Leu101=) c.103+804T= (n.103+804T=) c.-388T= (n.-388T=) | dbSNP |