| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916183G>C | CA119410 | ACVRL1 | c.926G>C (p.Trp309Ser) c.1196G>C (p.Trp399Ser) c.674G>C (p.Trp225Ser) n.471G>C c.1238G>C (p.Trp413Ser) c.201G>C c.407G>C (p.Trp136Ser) | ClinVar dbSNP |
| 12 | g.51916183G>A | CA384902884 | ACVRL1 | c.926G>A (p.Trp309Ter) c.1196G>A (p.Trp399Ter) c.674G>A (p.Trp225Ter) n.471G>A c.1238G>A (p.Trp413Ter) c.201G>A c.407G>A (p.Trp136Ter) | ClinVar dbSNP |
| 12 | g.51916183G>T | CA384902886 | ACVRL1 | c.926G>T (p.Trp309Leu) c.1196G>T (p.Trp399Leu) c.674G>T (p.Trp225Leu) n.471G>T c.1238G>T (p.Trp413Leu) c.201G>T c.407G>T (p.Trp136Leu) | ClinVar dbSNP |