| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915274G>A | CA6573002 | ACVRL1 | c.552G>A (p.Trp184Ter) c.822G>A (p.Trp274Ter) c.300G>A (p.Trp100Ter) c.864G>A (p.Trp288Ter) c.33G>A (p.Trp11Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915274G>T | CA384900451 | ACVRL1 | c.552G>T (p.Trp184Cys) c.822G>T (p.Trp274Cys) c.300G>T (p.Trp100Cys) c.864G>T (p.Trp288Cys) c.33G>T (p.Trp11Cys) | ClinVar dbSNP |