| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31334927C>T | CA325489 | NF1 | c.2090C>T (n.2090C>T) c.5884C>T (p.Arg1962Ter) c.466C>T (p.Arg156Ter) c.58C>T (p.Arg20Ter) n.2547C>T c.5932C>T (p.Arg1978Ter) c.5902C>T (p.Arg1968Ter) c.5839C>T (p.Arg1947Ter) c.4837C>T (p.Arg1613Ter) c.327C>T c.6038C>T (n.6038C>T) n.1219C>T c.5893C>T (p.Arg1965Ter) c.5869C>T (p.Arg1957Ter) c.5929C>T (p.Arg1977Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31334927C>A | CA499233766 | NF1 | c.2090C>A (n.2090C>A) c.5884C>A (p.Arg1962=) c.466C>A (p.Arg156=) c.58C>A (p.Arg20=) n.2547C>A c.5932C>A (p.Arg1978=) c.5902C>A (p.Arg1968=) c.5839C>A (p.Arg1947=) c.4837C>A (p.Arg1613=) c.327C>A c.6038C>A (n.6038C>A) n.1219C>A c.5893C>A (p.Arg1965=) c.5869C>A (p.Arg1957=) c.5929C>A (p.Arg1977=) | ClinVar dbSNP |
| 17 | g.31334927C>G | CA399010754 | NF1 | c.2090C>G (n.2090C>G) c.5884C>G (p.Arg1962Gly) c.466C>G (p.Arg156Gly) c.58C>G (p.Arg20Gly) n.2547C>G c.5932C>G (p.Arg1978Gly) c.5902C>G (p.Arg1968Gly) c.5839C>G (p.Arg1947Gly) c.4837C>G (p.Arg1613Gly) c.327C>G c.6038C>G (n.6038C>G) n.1219C>G c.5893C>G (p.Arg1965Gly) c.5869C>G (p.Arg1957Gly) c.5929C>G (p.Arg1977Gly) | dbSNP |