| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3673835G>A | CA9745555 | ADAM33 | c.815C>T (p.Thr272Met) c.*631+477C>T (n.*631+477C>T) c.806+9C>T (n.806+9C>T) c.854C>T (p.Thr285Met) c.851C>T (p.Thr284Met) c.812C>T (p.Thr271Met) c.-226C>T (n.-226C>T) n.958C>T n.879C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3673835G= | CA2346680056 | ADAM33 | c.815C= (p.Thr272=) c.*631+477C= (n.*631+477C=) c.806+9C= (n.806+9C=) c.854C= (p.Thr285=) c.851C= (p.Thr284=) c.812C= (p.Thr271=) c.-226C= (n.-226C=) n.958C= n.879C= | dbSNP |