| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.48144715G>A | CA474435335 | PTPRJ | c.2958G>A (p.Glu986=) c.2616G>A (p.Glu872=) c.2649G>A (p.Glu883=) n.2966G>A c.2694G>A (p.Glu898=) c.2637G>A (p.Glu879=) c.2568G>A (p.Glu856=) n.3025G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.48144715G>C | CA5982491 | PTPRJ | c.2958G>C (p.Glu986Asp) c.2616G>C (p.Glu872Asp) c.2649G>C (p.Glu883Asp) n.2966G>C c.2694G>C (p.Glu898Asp) c.2637G>C (p.Glu879Asp) c.2568G>C (p.Glu856Asp) n.3025G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.48144715G>T | CA221758209 | PTPRJ | c.2958G>T (p.Glu986Asp) c.2616G>T (p.Glu872Asp) c.2649G>T (p.Glu883Asp) n.2966G>T c.2694G>T (p.Glu898Asp) c.2637G>T (p.Glu879Asp) c.2568G>T (p.Glu856Asp) n.3025G>T | dbSNP gnomAD v2 gnomAD v4 |