| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67772109G>A | CA129542 | ZFYVE26 | c.5422C>T (p.Gln1808Ter) c.5440C>T (p.Gln1814Ter) c.5344C>T (p.Gln1782Ter) c.5467C>T (p.Gln1823Ter) n.5559C>T c.*3400C>T (n.*3400C>T) c.3913C>T (p.Gln1305Ter) c.3097C>T (p.Gln1033Ter) c.3004C>T (p.Gln1002Ter) c.3931C>T (p.Gln1311Ter) c.3115C>T (p.Gln1039Ter) c.3022C>T (p.Gln1008Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67772109G= | CA2144022974 | ZFYVE26 | c.5422C= (p.Gln1808=) c.5440C= (p.Gln1814=) c.5344C= (p.Gln1782=) c.5467C= (p.Gln1823=) n.5559C= c.*3400C= (n.*3400C=) c.3913C= (p.Gln1305=) c.3097C= (p.Gln1033=) c.3004C= (p.Gln1002=) c.3931C= (p.Gln1311=) c.3115C= (p.Gln1039=) c.3022C= (p.Gln1008=) | dbSNP |