| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.48123695T>A | CA474434343 | PTPRJ | c.1041T>A (p.Thr347=) c.699T>A (p.Thr233=) c.435T>A (p.Thr145=) c.732T>A (p.Thr244=) n.1049T>A c.777T>A (p.Thr259=) c.720T>A (p.Thr240=) c.651T>A (p.Thr217=) n.1108T>A | dbSNP |
| 11 | g.48123695T>C | CA5981980 | PTPRJ | c.1041T>C (p.Thr347=) c.699T>C (p.Thr233=) c.435T>C (p.Thr145=) c.732T>C (p.Thr244=) n.1049T>C c.777T>C (p.Thr259=) c.720T>C (p.Thr240=) c.651T>C (p.Thr217=) n.1108T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |