| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913236C>G | CA384897886 | ACVRL1 | c.241C>G (p.Arg81Gly) c.199C>G (p.Arg67Gly) c.103+701C>G (n.103+701C>G) | ClinVar dbSNP |
| 12 | g.51913236C>T | CA384897887 | ACVRL1 | c.241C>T (p.Arg81Trp) c.199C>T (p.Arg67Trp) c.103+701C>T (n.103+701C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |