| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229146T>A | CA398984208 | NF1 | c.2576T>A (p.Leu859His) c.2561T>A (p.Leu854His) c.2531T>A (p.Leu844His) c.1529T>A (p.Leu510His) n.698T>A c.2306T>A c.2633T>A (p.Leu878His) c.2522T>A (p.Leu841His) c.2558T>A (p.Leu853His) | ClinVar dbSNP |
| 17 | g.31229146T>G | CA251482 | NF1 | c.2576T>G (p.Leu859Arg) c.2561T>G (p.Leu854Arg) c.2531T>G (p.Leu844Arg) c.1529T>G (p.Leu510Arg) n.698T>G c.2306T>G c.2633T>G (p.Leu878Arg) c.2522T>G (p.Leu841Arg) c.2558T>G (p.Leu853Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31229146T>C | CA219473 | NF1 | c.2576T>C (p.Leu859Pro) c.2561T>C (p.Leu854Pro) c.2531T>C (p.Leu844Pro) c.1529T>C (p.Leu510Pro) n.698T>C c.2306T>C c.2633T>C (p.Leu878Pro) c.2522T>C (p.Leu841Pro) c.2558T>C (p.Leu853Pro) | ClinVar dbSNP COSMIC COSMIC |