| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31223470A>G | CA219413 | NF1 | c.1793A>G (p.Lys598Arg) c.1778A>G (p.Lys593Arg) c.1748A>G (p.Lys583Arg) c.746A>G (p.Lys249Arg) c.1523A>G c.1850A>G (p.Lys617Arg) c.1739A>G (p.Lys580Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.31223470A>T | CA399004103 | NF1 | c.1793A>T (p.Lys598Met) c.1778A>T (p.Lys593Met) c.1748A>T (p.Lys583Met) c.746A>T (p.Lys249Met) c.1523A>T c.1850A>T (p.Lys617Met) c.1739A>T (p.Lys580Met) | dbSNP |