| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229148T>C | CA16615181 | NF1 | c.2578T>C (p.Cys860Arg) c.2563T>C (p.Cys855Arg) c.2533T>C (p.Cys845Arg) c.1531T>C (p.Cys511Arg) n.700T>C c.2308T>C c.2635T>C (p.Cys879Arg) c.2524T>C (p.Cys842Arg) c.2560T>C (p.Cys854Arg) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31229148T>A | CA398984213 | NF1 | c.2578T>A (p.Cys860Ser) c.2563T>A (p.Cys855Ser) c.2533T>A (p.Cys845Ser) c.1531T>A (p.Cys511Ser) n.700T>A c.2308T>A c.2635T>A (p.Cys879Ser) c.2524T>A (p.Cys842Ser) c.2560T>A (p.Cys854Ser) | dbSNP |
| 17 | g.31229148T= | CA2255564939 | NF1 | c.2578T= (p.Cys860=) c.2563T= (p.Cys855=) c.2533T= (p.Cys845=) c.1531T= (p.Cys511=) n.700T= c.2308T= c.2635T= (p.Cys879=) c.2524T= (p.Cys842=) c.2560T= (p.Cys854=) | dbSNP |