| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.6364524G>C | CA143977 | CLPP | c.440G>C (p.Cys147Ser) c.151-1734G>C c.251G>C n.341G>C n.955G>C c.179G>C (p.Cys60Ser) c.107-1734G>C (n.107-1734G>C) c.251G>C (p.Cys84Ser) | ClinVar dbSNP |
| 19 | g.6364524G>A | CA9122920 | CLPP | c.440G>A (p.Cys147Tyr) c.151-1734G>A c.251G>A n.341G>A n.955G>A c.179G>A (p.Cys60Tyr) c.107-1734G>A (n.107-1734G>A) c.251G>A (p.Cys84Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |