| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71387393T>A | CA413518858 | TAF1 | c.1645T>A (p.Cys549Ser) c.2359T>A (p.Cys787Ser) c.1940T>A c.2296T>A (p.Cys766Ser) c.2419T>A (p.Cys807Ser) c.2356T>A (p.Cys786Ser) n.308T>A n.84T>A n.2495T>A c.2038T>A (p.Cys680Ser) n.2429T>A n.2377T>A | dbSNP |
| X | g.71387393T>C | CA279945 | TAF1 | c.1645T>C (p.Cys549Arg) c.2359T>C (p.Cys787Arg) c.1940T>C c.2296T>C (p.Cys766Arg) c.2419T>C (p.Cys807Arg) c.2356T>C (p.Cys786Arg) n.308T>C n.84T>C n.2495T>C c.2038T>C (p.Cys680Arg) n.2429T>C n.2377T>C | ClinVar dbSNP |
| X | g.71387393T= | CA2436446296 | TAF1 | c.1645T= (p.Cys549=) c.2359T= (p.Cys787=) c.1940T= c.2296T= (p.Cys766=) c.2419T= (p.Cys807=) c.2356T= (p.Cys786=) n.308T= n.84T= n.2495T= c.2038T= (p.Cys680=) n.2429T= n.2377T= | dbSNP |