| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.14843853C>T | CA5896212 | PDE3B | c.2347C>T (p.Arg783Ter) c.2194C>T (p.Arg732Ter) c.2581C>T (p.Arg861Ter) c.2233C>T (p.Arg745Ter) n.2766C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.14843853C>G | CA379737275 | PDE3B | c.2347C>G (p.Arg783Gly) c.2194C>G (p.Arg732Gly) c.2581C>G (p.Arg861Gly) c.2233C>G (p.Arg745Gly) n.2766C>G | dbSNP gnomAD v2 gnomAD v4 |