| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31189158C>T | CA130064 | FUS | c.868C>T (p.Gln290Ter) c.865C>T (p.Gln289Ter) n.162C>T n.4043C>T n.692C>T c.*41C>T (n.*41C>T) c.871C>T (p.Gln291Ter) n.242C>T c.856C>T (p.Gln286Ter) n.938C>T c.253C>T (p.Gln85Ter) c.862C>T (p.Gln288Ter) c.859C>T (p.Gln287Ter) | ClinVar dbSNP |
| 16 | g.31189158C= | CA2216947168 | FUS | c.868C= (p.Gln290=) c.865C= (p.Gln289=) n.162C= n.4043C= n.692C= c.*41C= (n.*41C=) c.871C= (p.Gln291=) n.242C= c.856C= (p.Gln286=) n.938C= c.253C= (p.Gln85=) c.862C= (p.Gln288=) c.859C= (p.Gln287=) | dbSNP |