| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916219G>C | CA119413 | ACVRL1 | c.962G>C (p.Arg321Pro) c.1232G>C (p.Arg411Pro) c.710G>C (p.Arg237Pro) n.507G>C c.1274G>C (p.Arg425Pro) c.237G>C c.443G>C (p.Arg148Pro) | ClinVar dbSNP |
| 12 | g.51916219G>A | CA119395 | ACVRL1 | c.962G>A (p.Arg321Gln) c.1232G>A (p.Arg411Gln) c.710G>A (p.Arg237Gln) n.507G>A c.1274G>A (p.Arg425Gln) c.237G>A c.443G>A (p.Arg148Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |