| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.745591A>G | CA249933 | GEMIN4 | c.2452T>C (p.Trp818Arg) c.2419T>C (p.Trp807Arg) c.2464T>C (p.Trp822Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.745591A>C | CA397503791 | GEMIN4 | c.2452T>G (p.Trp818Gly) c.2419T>G (p.Trp807Gly) c.2464T>G (p.Trp822Gly) | dbSNP gnomAD v2 gnomAD v4 |