| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.51361249T>C | CA847430 | EPS15 | c.1524A>G (p.Ile508Met) c.2043A>G (p.Ile681Met) c.2376A>G (p.Ile792Met) n.1712A>G n.1969A>G c.*1414A>G (n.*1414A>G) c.2577A>G (p.Ile859Met) c.2466A>G (p.Ile822Met) c.2064A>G (p.Ile688Met) c.1752A>G (p.Ile584Met) c.1902A>G (p.Ile634Met) c.2373A>G (p.Ile791Met) c.2262A>G (p.Ile754Met) c.2172A>G (p.Ile724Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.51361249T= | CA1139774281 | EPS15 | c.1524A= (p.Ile508=) c.2043A= (p.Ile681=) c.2376A= (p.Ile792=) n.1712A= n.1969A= c.*1414A= (n.*1414A=) c.2577A= (p.Ile859=) c.2466A= (p.Ile822=) c.2064A= (p.Ile688=) c.1752A= (p.Ile584=) c.1902A= (p.Ile634=) c.2373A= (p.Ile791=) c.2262A= (p.Ile754=) c.2172A= (p.Ile724=) | dbSNP |