| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.158192457C>G | CA4591982 | PTPRN2 | c.419G>C (p.Ser140Thr) c.368G>C (p.Ser123Thr) c.146G>C (p.Ser49Thr) c.305G>C (p.Ser102Thr) c.488G>C (p.Ser163Thr) c.221G>C (p.Ser74Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.158192457C= | CA1755984990 | PTPRN2 | c.419G= (p.Ser140=) c.368G= (p.Ser123=) c.146G= (p.Ser49=) c.305G= (p.Ser102=) c.488G= (p.Ser163=) c.221G= (p.Ser74=) | dbSNP |