| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31181724G>A | CA16043099 | NF1 | c.669G>A (p.Trp223Ter) c.84G>A (p.Trp28Ter) c.249G>A (p.Trp83Ter) n.1052G>A n.303G>A c.444G>A c.771G>A (p.Trp257Ter) c.630G>A (p.Trp210Ter) | ClinVar dbSNP |
| 17 | g.31181724G>T | CA398989743 | NF1 | c.669G>T (p.Trp223Cys) c.84G>T (p.Trp28Cys) c.249G>T (p.Trp83Cys) n.1052G>T n.303G>T c.444G>T c.771G>T (p.Trp257Cys) c.630G>T (p.Trp210Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31181724G>C | CA398989739 | NF1 | c.669G>C (p.Trp223Cys) c.84G>C (p.Trp28Cys) c.249G>C (p.Trp83Cys) n.1052G>C n.303G>C c.444G>C c.771G>C (p.Trp257Cys) c.630G>C (p.Trp210Cys) | dbSNP |