| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915368del | CA16619569 | ACVRL1 | c.646del (p.Ala216ArgfsTer?) c.916del (p.Ala306ArgfsTer?) c.394del (p.Ala132ArgfsTer?) c.958del (p.Ala320ArgfsTer?) c.127del (p.Ala43ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915368G= | CA2036269489 | ACVRL1 | c.646G= (p.Ala216=) c.916G= (p.Ala306=) c.394G= (p.Ala132=) c.958G= (p.Ala320=) c.127G= (p.Ala43=) | dbSNP dbSNP |