| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916107C>A | CA479810514 | ACVRL1 | c.850C>A (p.Arg284=) c.1120C>A (p.Arg374=) c.598C>A (p.Arg200=) n.395C>A c.1162C>A (p.Arg388=) c.125C>A c.331C>A (p.Arg111=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916107C>T | CA119397 | ACVRL1 | c.850C>T (p.Arg284Trp) c.1120C>T (p.Arg374Trp) c.598C>T (p.Arg200Trp) n.395C>T c.1162C>T (p.Arg388Trp) c.125C>T c.331C>T (p.Arg111Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51916107C>G | CA384902394 | ACVRL1 | c.850C>G (p.Arg284Gly) c.1120C>G (p.Arg374Gly) c.598C>G (p.Arg200Gly) n.395C>G c.1162C>G (p.Arg388Gly) c.125C>G c.331C>G (p.Arg111Gly) | ClinVar dbSNP gnomAD v4 |