| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920817G>A | CA384905684 | ACVRL1 | c.1166G>A (p.Arg389Gln) c.1436G>A (p.Arg479Gln) c.914G>A (p.Arg305Gln) c.1478G>A (p.Arg493Gln) c.647G>A (p.Arg216Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920817G>C | CA384905687 | ACVRL1 | c.1166G>C (p.Arg389Pro) c.1436G>C (p.Arg479Pro) c.914G>C (p.Arg305Pro) c.1478G>C (p.Arg493Pro) c.647G>C (p.Arg216Pro) | ClinVar dbSNP |