| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229308T>A | CA398984989 | NF1 | c.2738T>A (p.Leu913Gln) c.38T>A (p.Leu13Gln) c.2723T>A (p.Leu908Gln) c.2693T>A (p.Leu898Gln) c.1691T>A (p.Leu564Gln) n.860T>A c.2468T>A c.2795T>A (p.Leu932Gln) c.2684T>A (p.Leu895Gln) c.2720T>A (p.Leu907Gln) | ClinVar dbSNP |
| 17 | g.31229308T>C | CA165101 | NF1 | c.2738T>C (p.Leu913Pro) c.38T>C (p.Leu13Pro) c.2723T>C (p.Leu908Pro) c.2693T>C (p.Leu898Pro) c.1691T>C (p.Leu564Pro) n.860T>C c.2468T>C c.2795T>C (p.Leu932Pro) c.2684T>C (p.Leu895Pro) c.2720T>C (p.Leu907Pro) | ClinVar dbSNP |
| 17 | g.31229308T>G | CA398984992 | NF1 | c.2738T>G (p.Leu913Arg) c.38T>G (p.Leu13Arg) c.2723T>G (p.Leu908Arg) c.2693T>G (p.Leu898Arg) c.1691T>G (p.Leu564Arg) n.860T>G c.2468T>G c.2795T>G (p.Leu932Arg) c.2684T>G (p.Leu895Arg) c.2720T>G (p.Leu907Arg) | ClinVar dbSNP COSMIC COSMIC |