| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51914046C>T | CA236362870 | ACVRL1 | c.356-393C>T (n.356-393C>T) c.598C>T (p.Arg200Trp) c.104-393C>T (n.104-393C>T) c.640C>T (p.Arg214Trp) c.-165+276C>T (n.-165+276C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914046C>G | CA384899815 | ACVRL1 | c.356-393C>G (n.356-393C>G) c.598C>G (p.Arg200Gly) c.104-393C>G (n.104-393C>G) c.640C>G (p.Arg214Gly) c.-165+276C>G (n.-165+276C>G) | ClinVar dbSNP |
| 12 | g.51914046C= | CA2036268380 | ACVRL1 | c.356-393C= (n.356-393C=) c.598C= (p.Arg200=) c.104-393C= (n.104-393C=) c.640C= (p.Arg214=) c.-165+276C= (n.-165+276C=) | dbSNP |