| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80484531C>G | CA6702411 | PTPRQ | c.1285C>G (p.Gln429Glu) c.1411C>G (p.Gln471Glu) c.1951C>G (p.Gln651Glu) n.2088C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80484531C= | CA2049270725 | PTPRQ | c.1285C= (p.Gln429=) c.1411C= (p.Gln471=) c.1951C= (p.Gln651=) n.2088C= | dbSNP |