| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.113396528A>T | CA2544063 | CFAP44 | c.1769T>A (p.Leu590Gln) c.*1870T>A (n.*1870T>A) n.387T>A c.*1185T>A (n.*1185T>A) c.1901T>A (p.Leu634Gln) c.1748T>A (p.Leu583Gln) c.1220T>A (p.Leu407Gln) c.869T>A (p.Leu290Gln) n.2426T>A | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.113396528A= | CA3099601401 | CFAP44 | c.1769T= (p.Leu590=) c.*1870T= (n.*1870T=) n.387T= c.*1185T= (n.*1185T=) c.1901T= (p.Leu634=) c.1748T= (p.Leu583=) c.1220T= (p.Leu407=) c.869T= (p.Leu290=) n.2426T= | dbSNP |