| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229155T>C | CA219477 | NF1 | c.2585T>C (p.Leu862Pro) c.2570T>C (p.Leu857Pro) c.2540T>C (p.Leu847Pro) c.1538T>C (p.Leu513Pro) n.707T>C c.2315T>C c.2642T>C (p.Leu881Pro) c.2531T>C (p.Leu844Pro) c.2567T>C (p.Leu856Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31229155T>A | CA398984235 | NF1 | c.2585T>A (p.Leu862His) c.2570T>A (p.Leu857His) c.2540T>A (p.Leu847His) c.1538T>A (p.Leu513His) n.707T>A c.2315T>A c.2642T>A (p.Leu881His) c.2531T>A (p.Leu844His) c.2567T>A (p.Leu856His) | dbSNP |
| 17 | g.31229155T>G | CA398984236 | NF1 | c.2585T>G (p.Leu862Arg) c.2570T>G (p.Leu857Arg) c.2540T>G (p.Leu847Arg) c.1538T>G (p.Leu513Arg) n.707T>G c.2315T>G c.2642T>G (p.Leu881Arg) c.2531T>G (p.Leu844Arg) c.2567T>G (p.Leu856Arg) | ClinVar dbSNP |
| 17 | g.31229155T= | CA2255564979 | NF1 | c.2585T= (p.Leu862=) c.2570T= (p.Leu857=) c.2540T= (p.Leu847=) c.1538T= (p.Leu513=) n.707T= c.2315T= c.2642T= (p.Leu881=) c.2531T= (p.Leu844=) c.2567T= (p.Leu856=) | dbSNP |