| 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 |
