| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.121136045G>T | CA4455069 | CPED1 | c.1654G>T (p.Val552Phe) c.994G>T (p.Val332Phe) c.1141G>T (p.Val381Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.121136045G>A | CA369003475 | CPED1 | c.1654G>A (p.Val552Ile) c.994G>A (p.Val332Ile) c.1141G>A (p.Val381Ile) | dbSNP gnomAD v4 |
| 7 | g.121136045G= | CA1739016339 | CPED1 | c.1654G= (p.Val552=) c.994G= (p.Val332=) c.1141G= (p.Val381=) | dbSNP |