| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29681477A>C | CA021363 | NF2 | c.1478A>C (p.Gln493Pro) c.*1107A>C (n.*1107A>C) c.1613A>C (p.Gln538Pro) c.1031A>C (p.Gln344Pro) c.*1495A>C (n.*1495A>C) c.1632A>C (n.1632A>C) c.1364A>C (p.Gln455Pro) c.1490A>C (p.Gln497Pro) c.1487A>C (p.Gln496Pro) c.1526A>C (p.Gln509Pro) c.448-13275A>C (n.448-13275A>C) c.*93+3154A>C (n.*93+3154A>C) n.2172A>C c.1499A>C (p.Gln500Pro) n.2095A>C | ClinVar dbSNP |
| 22 | g.29681477A= | CA2400686809 | NF2 | c.1478A= (p.Gln493=) c.*1107A= (n.*1107A=) c.1613A= (p.Gln538=) c.1031A= (p.Gln344=) c.*1495A= (n.*1495A=) c.1632A= (n.1632A=) c.1364A= (p.Gln455=) c.1490A= (p.Gln497=) c.1487A= (p.Gln496=) c.1526A= (p.Gln509=) c.448-13275A= (n.448-13275A=) c.*93+3154A= (n.*93+3154A=) n.2172A= c.1499A= (p.Gln500=) n.2095A= | dbSNP dbSNP |