| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913187G>T | CA254373 | ACVRL1 | c.192G>T (p.Trp64Cys) c.150G>T (p.Trp50Cys) c.103+652G>T (n.103+652G>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913187G>C | CA384897711 | ACVRL1 | c.192G>C (p.Trp64Cys) c.150G>C (p.Trp50Cys) c.103+652G>C (n.103+652G>C) | ClinVar dbSNP |
| 12 | g.51913187G= | CA2036267012 | ACVRL1 | c.192G= (p.Trp64=) c.150G= (p.Trp50=) c.103+652G= (n.103+652G=) | dbSNP |