| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229145C>T | CA219469 | NF1 | c.2575C>T (p.Leu859Phe) c.2560C>T (p.Leu854Phe) c.2530C>T (p.Leu844Phe) c.1528C>T (p.Leu510Phe) n.697C>T c.2305C>T c.2632C>T (p.Leu878Phe) c.2521C>T (p.Leu841Phe) c.2557C>T (p.Leu853Phe) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31229145C>A | CA398984205 | NF1 | c.2575C>A (p.Leu859Ile) c.2560C>A (p.Leu854Ile) c.2530C>A (p.Leu844Ile) c.1528C>A (p.Leu510Ile) n.697C>A c.2305C>A c.2632C>A (p.Leu878Ile) c.2521C>A (p.Leu841Ile) c.2557C>A (p.Leu853Ile) | dbSNP gnomAD v4 |
| 17 | g.31229145C= | CA2255564915 | NF1 | c.2575C= (p.Leu859=) c.2560C= (p.Leu854=) c.2530C= (p.Leu844=) c.1528C= (p.Leu510=) n.697C= c.2305C= c.2632C= (p.Leu878=) c.2521C= (p.Leu841=) c.2557C= (p.Leu853=) | dbSNP |