| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29681468T>C | CA021356 | NF2 | c.1469T>C (p.Leu490Pro) c.*1098T>C (n.*1098T>C) c.1604T>C (p.Leu535Pro) c.1022T>C (p.Leu341Pro) c.*1486T>C (n.*1486T>C) c.1623T>C (n.1623T>C) c.1355T>C (p.Leu452Pro) c.1481T>C (p.Leu494Pro) c.1478T>C (p.Leu493Pro) c.1517T>C (p.Leu506Pro) c.448-13284T>C (n.448-13284T>C) c.*93+3145T>C (n.*93+3145T>C) n.2163T>C c.1490T>C (p.Leu497Pro) n.2086T>C | ClinVar dbSNP |
| 22 | g.29681468T= | CA2400686806 | NF2 | c.1469T= (p.Leu490=) c.*1098T= (n.*1098T=) c.1604T= (p.Leu535=) c.1022T= (p.Leu341=) c.*1486T= (n.*1486T=) c.1623T= (n.1623T=) c.1355T= (p.Leu452=) c.1481T= (p.Leu494=) c.1478T= (p.Leu493=) c.1517T= (p.Leu506=) c.448-13284T= (n.448-13284T=) c.*93+3145T= (n.*93+3145T=) n.2163T= c.1490T= (p.Leu497=) n.2086T= | dbSNP |