| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.147914451C>T | CA11086083 | ACVR2A | c.529-740C>T (n.529-740C>T) c.205-740C>T (n.205-740C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.147914451C= | CA1296518744 | ACVR2A | c.529-740C= (n.529-740C=) c.205-740C= (n.205-740C=) | dbSNP |