| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29681491A>T | CA10583924 | NF2 | c.1492A>T (p.Lys498Ter) c.*1121A>T (n.*1121A>T) c.1627A>T (p.Lys543Ter) c.1045A>T (p.Lys349Ter) c.*1509A>T (n.*1509A>T) c.1646A>T (n.1646A>T) c.1378A>T (p.Lys460Ter) c.1504A>T (p.Lys502Ter) c.1501A>T (p.Lys501Ter) c.1540A>T (p.Lys514Ter) c.448-13261A>T (n.448-13261A>T) c.*93+3168A>T (n.*93+3168A>T) n.2186A>T c.1513A>T (p.Lys505Ter) n.2109A>T | ClinVar dbSNP |
| 22 | g.29681491A= | CA2400686816 | NF2 | c.1492A= (p.Lys498=) c.*1121A= (n.*1121A=) c.1627A= (p.Lys543=) c.1045A= (p.Lys349=) c.*1509A= (n.*1509A=) c.1646A= (n.1646A=) c.1378A= (p.Lys460=) c.1504A= (p.Lys502=) c.1501A= (p.Lys501=) c.1540A= (p.Lys514=) c.448-13261A= (n.448-13261A=) c.*93+3168A= (n.*93+3168A=) n.2186A= c.1513A= (p.Lys505=) n.2109A= | dbSNP |