| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29668417C>G | CA411146013 | NF2 | c.835C>G (p.Gln279Glu) c.*464C>G (n.*464C>G) c.970C>G (p.Gln324Glu) c.388C>G (p.Gln130Glu) c.*852C>G (n.*852C>G) c.989C>G (n.989C>G) c.721C>G (p.Gln241Glu) c.847C>G (p.Gln283Glu) c.844C>G (p.Gln282Glu) c.447+26132C>G (n.447+26132C>G) c.493C>G (p.Gln165Glu) n.1529C>G c.856C>G (p.Gln286Glu) n.1452C>G | ClinVar dbSNP |
| 22 | g.29668417C>T | CA323114542 | NF2 | c.835C>T (p.Gln279Ter) c.*464C>T (n.*464C>T) c.970C>T (p.Gln324Ter) c.388C>T (p.Gln130Ter) c.*852C>T (n.*852C>T) c.989C>T (n.989C>T) c.721C>T (p.Gln241Ter) c.847C>T (p.Gln283Ter) c.844C>T (p.Gln282Ter) c.447+26132C>T (n.447+26132C>T) c.493C>T (p.Gln165Ter) n.1529C>T c.856C>T (p.Gln286Ter) n.1452C>T | ClinVar dbSNP COSMIC COSMIC |