| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31229463C>T | CA16615471 | NF1 | c.2893C>T (p.Gln965Ter) c.193C>T (p.Gln65Ter) c.2878C>T (p.Gln960Ter) c.2848C>T (p.Gln950Ter) c.1846C>T (p.Gln616Ter) n.1015C>T c.2623C>T c.2950C>T (p.Gln984Ter) c.2839C>T (p.Gln947Ter) c.2875C>T (p.Gln959Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31229463C>G | CA398985890 | NF1 | c.2893C>G (p.Gln965Glu) c.193C>G (p.Gln65Glu) c.2878C>G (p.Gln960Glu) c.2848C>G (p.Gln950Glu) c.1846C>G (p.Gln616Glu) n.1015C>G c.2623C>G c.2950C>G (p.Gln984Glu) c.2839C>G (p.Gln947Glu) c.2875C>G (p.Gln959Glu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229463C= | CA2255566065 | NF1 | c.2893C= (p.Gln965=) c.193C= (p.Gln65=) c.2878C= (p.Gln960=) c.2848C= (p.Gln950=) c.1846C= (p.Gln616=) n.1015C= c.2623C= c.2950C= (p.Gln984=) c.2839C= (p.Gln947=) c.2875C= (p.Gln959=) | dbSNP dbSNP |