| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31338788C>T | CA16043526 | NF1 | c.6886C>T (p.Gln2296Ter) c.1468C>T (p.Gln490Ter) n.2726C>T c.1060C>T (p.Gln354Ter) n.3549C>T c.6934C>T (p.Gln2312Ter) c.6904C>T (p.Gln2302Ter) c.6841C>T (p.Gln2281Ter) c.5839C>T (p.Gln1947Ter) c.287C>T c.7040C>T (n.7040C>T) c.64+908C>T n.318C>T c.6895C>T (p.Gln2299Ter) c.6871C>T (p.Gln2291Ter) c.6931C>T (p.Gln2311Ter) | ClinVar dbSNP |
| 17 | g.31338788C>A | CA399014419 | NF1 | c.6886C>A (p.Gln2296Lys) c.1468C>A (p.Gln490Lys) n.2726C>A c.1060C>A (p.Gln354Lys) n.3549C>A c.6934C>A (p.Gln2312Lys) c.6904C>A (p.Gln2302Lys) c.6841C>A (p.Gln2281Lys) c.5839C>A (p.Gln1947Lys) c.287C>A c.7040C>A (n.7040C>A) c.64+908C>A n.318C>A c.6895C>A (p.Gln2299Lys) c.6871C>A (p.Gln2291Lys) c.6931C>A (p.Gln2311Lys) | dbSNP |