| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.184708330G>A | CA1287225 | EDEM3 | c.1860C>T (p.Ile620=) c.1846-120C>T (n.1846-120C>T) c.1674C>T (p.Ile558=) c.1629C>T (p.Ile543=) c.1935C>T (p.Ile645=) n.1958C>T n.2562C>T c.1731C>T (p.Ile577=) c.204C>T (p.Ile68=) n.77-120C>T c.1863C>T (p.Ile621=) c.1806C>T (p.Ile602=) c.1803C>T (p.Ile601=) c.1632C>T (p.Ile544=) n.2121C>T n.2072C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.184708330G>T | CA422309064 | EDEM3 | c.1860C>A (p.Ile620=) c.1846-120C>A (n.1846-120C>A) c.1674C>A (p.Ile558=) c.1629C>A (p.Ile543=) c.1935C>A (p.Ile645=) n.1958C>A n.2562C>A c.1731C>A (p.Ile577=) c.204C>A (p.Ile68=) n.77-120C>A c.1863C>A (p.Ile621=) c.1806C>A (p.Ile602=) c.1803C>A (p.Ile601=) c.1632C>A (p.Ile544=) n.2121C>A n.2072C>A | dbSNP |