| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80506078T>G | CA6702531 | PTPRQ | c.2327T>G (p.Ile776Ser) c.2453T>G (p.Ile818Ser) n.737+7256A>C c.2993T>G (p.Ile998Ser) n.3130T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.80506078T>C | CA6702530 | PTPRQ | c.2327T>C (p.Ile776Thr) c.2453T>C (p.Ile818Thr) n.737+7256A>G c.2993T>C (p.Ile998Thr) n.3130T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80506078T= | CA2049280237 | PTPRQ | c.2327T= (p.Ile776=) c.2453T= (p.Ile818=) n.737+7256A= c.2993T= (p.Ile998=) n.3130T= | dbSNP |