| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.95247744A>T | CA371838342 | CFAP418 | c.497T>A (p.Leu166Ter) c.740T>A (p.Leu247Ter) c.401T>A (p.Leu134Ter) | ClinVar dbSNP gnomAD v2 |
| 8 | g.95247744A>C | CA371838343 | CFAP418 | c.497T>G (p.Leu166Ter) c.740T>G (p.Leu247Ter) c.401T>G (p.Leu134Ter) | dbSNP gnomAD v2 gnomAD v4 |