| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80539915A>G | CA6702601 | PTPRQ | c.3125A>G (p.Asp1042Gly) c.3251A>G (p.Asp1084Gly) c.3791A>G (p.Asp1264Gly) n.3928A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80539915A= | CA2049296173 | PTPRQ | c.3125A= (p.Asp1042=) c.3251A= (p.Asp1084=) c.3791A= (p.Asp1264=) n.3928A= | dbSNP |