| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29681443G>T | CA021349 | NF2 | c.1444G>T (p.Glu482Ter) c.*1073G>T (n.*1073G>T) c.1579G>T (p.Glu527Ter) c.997G>T (p.Glu333Ter) c.*1461G>T (n.*1461G>T) c.1598G>T (n.1598G>T) c.1330G>T (p.Glu444Ter) c.1456G>T (p.Glu486Ter) c.1453G>T (p.Glu485Ter) c.1492G>T (p.Glu498Ter) c.448-13309G>T (n.448-13309G>T) c.*93+3120G>T (n.*93+3120G>T) n.2138G>T c.1465G>T (p.Glu489Ter) n.2061G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.29681443G>A | CA411149993 | NF2 | c.1444G>A (p.Glu482Lys) c.*1073G>A (n.*1073G>A) c.1579G>A (p.Glu527Lys) c.997G>A (p.Glu333Lys) c.*1461G>A (n.*1461G>A) c.1598G>A (n.1598G>A) c.1330G>A (p.Glu444Lys) c.1456G>A (p.Glu486Lys) c.1453G>A (p.Glu485Lys) c.1492G>A (p.Glu498Lys) c.448-13309G>A (n.448-13309G>A) c.*93+3120G>A (n.*93+3120G>A) n.2138G>A c.1465G>A (p.Glu489Lys) n.2061G>A | ClinVar dbSNP |
| 22 | g.29681443G= | CA2400686799 | NF2 | c.1444G= (p.Glu482=) c.*1073G= (n.*1073G=) c.1579G= (p.Glu527=) c.997G= (p.Glu333=) c.*1461G= (n.*1461G=) c.1598G= (n.1598G=) c.1330G= (p.Glu444=) c.1456G= (p.Glu486=) c.1453G= (p.Glu485=) c.1492G= (p.Glu498=) c.448-13309G= (n.448-13309G=) c.*93+3120G= (n.*93+3120G=) n.2138G= c.1465G= (p.Glu489=) n.2061G= | dbSNP |