| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31235630T>G | CA398992356 | NF1 | c.3773T>G (p.Leu1258Arg) c.1073T>G (p.Leu358Arg) n.436T>G c.3758T>G (p.Leu1253Arg) c.3728T>G (p.Leu1243Arg) c.2726T>G (p.Leu909Arg) c.204T>G n.2264T>G c.3503T>G c.3830T>G (p.Leu1277Arg) c.3719T>G (p.Leu1240Arg) c.3755T>G (p.Leu1252Arg) | ClinVar dbSNP |
| 17 | g.31235630T>C | CA251473 | NF1 | c.3773T>C (p.Leu1258Pro) c.1073T>C (p.Leu358Pro) n.436T>C c.3758T>C (p.Leu1253Pro) c.3728T>C (p.Leu1243Pro) c.2726T>C (p.Leu909Pro) c.204T>C n.2264T>C c.3503T>C c.3830T>C (p.Leu1277Pro) c.3719T>C (p.Leu1240Pro) c.3755T>C (p.Leu1252Pro) | ClinVar dbSNP |