| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55672026T>C | CA324589 | PNPT1 | c.887A>G (p.Tyr296Cys) c.*442A>G (n.*442A>G) c.647A>G (p.Tyr216Cys) n.917A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.55672026T= | CA1252401056 | PNPT1 | c.887A= (p.Tyr296=) c.*442A= (n.*442A=) c.647A= (p.Tyr216=) n.917A= | dbSNP |