| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915407G>C | CA384901287 | ACVRL1 | c.685G>C (p.Gly229Arg) c.955G>C (p.Gly319Arg) c.433G>C (p.Gly145Arg) c.997G>C (p.Gly333Arg) c.166G>C (p.Gly56Arg) | ClinVar dbSNP |
| 12 | g.51915407G>A | CA384901282 | ACVRL1 | c.685G>A (p.Gly229Ser) c.955G>A (p.Gly319Ser) c.433G>A (p.Gly145Ser) c.997G>A (p.Gly333Ser) c.166G>A (p.Gly56Ser) | dbSNP gnomAD v4 |
| 12 | g.51915407G>T | CA384901288 | ACVRL1 | c.685G>T (p.Gly229Cys) c.955G>T (p.Gly319Cys) c.433G>T (p.Gly145Cys) c.997G>T (p.Gly333Cys) c.166G>T (p.Gly56Cys) | dbSNP gnomAD v2 gnomAD v4 |