| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.158167203C>T | CA4591871 | PTPRN2 | c.638G>A (p.Arg213His) c.587G>A (p.Arg196His) c.365G>A (p.Arg122His) c.524G>A (p.Arg175His) c.707G>A (p.Arg236His) c.440G>A (p.Arg147His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.158167203C= | CA1755945047 | PTPRN2 | c.638G= (p.Arg213=) c.587G= (p.Arg196=) c.365G= (p.Arg122=) c.524G= (p.Arg175=) c.707G= (p.Arg236=) c.440G= (p.Arg147=) | dbSNP |