| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29668405C>T | CA021453 | NF2 | c.823C>T (p.Gln275Ter) c.*452C>T (n.*452C>T) c.958C>T (p.Gln320Ter) c.376C>T (p.Gln126Ter) c.*840C>T (n.*840C>T) c.977C>T (n.977C>T) c.709C>T (p.Gln237Ter) c.835C>T (p.Gln279Ter) c.832C>T (p.Gln278Ter) c.447+26120C>T (n.447+26120C>T) c.481C>T (p.Gln161Ter) n.1517C>T c.844C>T (p.Gln282Ter) n.1440C>T | ClinVar dbSNP COSMIC |
| 22 | g.29668405C= | CA2400681103 | NF2 | c.823C= (p.Gln275=) c.*452C= (n.*452C=) c.958C= (p.Gln320=) c.376C= (p.Gln126=) c.*840C= (n.*840C=) c.977C= (n.977C=) c.709C= (p.Gln237=) c.835C= (p.Gln279=) c.832C= (p.Gln278=) c.447+26120C= (n.447+26120C=) c.481C= (p.Gln161=) n.1517C= c.844C= (p.Gln282=) n.1440C= | dbSNP |