| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31227536C>G | CA398983055 | NF1 | c.2384C>G (p.Thr795Arg) c.2369C>G (p.Thr790Arg) c.2339C>G (p.Thr780Arg) c.1337C>G (p.Thr446Arg) n.506C>G c.2114C>G c.2441C>G (p.Thr814Arg) c.2330C>G (p.Thr777Arg) c.2366C>G (p.Thr789Arg) | ClinVar dbSNP |
| 17 | g.31227536C>A | CA219449 | NF1 | c.2384C>A (p.Thr795Lys) c.2369C>A (p.Thr790Lys) c.2339C>A (p.Thr780Lys) c.1337C>A (p.Thr446Lys) n.506C>A c.2114C>A c.2441C>A (p.Thr814Lys) c.2330C>A (p.Thr777Lys) c.2366C>A (p.Thr789Lys) | ClinVar dbSNP ExAC gnomAD v2 |