| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219173034A>G | CA2117684 | CNPPD1 | c.785T>C (p.Ile262Thr) n.830T>C n.888T>C c.815T>C (p.Ile272Thr) n.813T>C n.820T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219173034A= | CA1329092295 | CNPPD1 | c.785T= (p.Ile262=) n.830T= n.888T= c.815T= (p.Ile272=) n.813T= n.820T= | dbSNP |