| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229149G>A | CA16615183 | NF1 | c.2579G>A (p.Cys860Tyr) c.2564G>A (p.Cys855Tyr) c.2534G>A (p.Cys845Tyr) c.1532G>A (p.Cys511Tyr) n.701G>A c.2309G>A c.2636G>A (p.Cys879Tyr) c.2525G>A (p.Cys842Tyr) c.2561G>A (p.Cys854Tyr) | ClinVar dbSNP COSMIC |
| 17 | g.31229149G>C | CA398984215 | NF1 | c.2579G>C (p.Cys860Ser) c.2564G>C (p.Cys855Ser) c.2534G>C (p.Cys845Ser) c.1532G>C (p.Cys511Ser) n.701G>C c.2309G>C c.2636G>C (p.Cys879Ser) c.2525G>C (p.Cys842Ser) c.2561G>C (p.Cys854Ser) | dbSNP |
| 17 | g.31229149G>T | CA398984217 | NF1 | c.2579G>T (p.Cys860Phe) c.2564G>T (p.Cys855Phe) c.2534G>T (p.Cys845Phe) c.1532G>T (p.Cys511Phe) n.701G>T c.2309G>T c.2636G>T (p.Cys879Phe) c.2525G>T (p.Cys842Phe) c.2561G>T (p.Cys854Phe) | ClinVar dbSNP |