| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67754158G>A | CA7239078 | ZFYVE26 | c.7041C>T (p.Cys2347=) c.7059C>T (p.Cys2353=) c.6963C>T (p.Cys2321=) c.7086C>T (p.Cys2362=) n.2304C>T n.7796C>T c.*5019C>T (n.*5019C>T) n.729C>T c.579C>T (p.Cys193=) c.5532C>T (p.Cys1844=) c.4716C>T (p.Cys1572=) c.4623C>T (p.Cys1541=) c.5550C>T (p.Cys1850=) c.4734C>T (p.Cys1578=) c.4641C>T (p.Cys1547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67754158G>T | CA7239079 | ZFYVE26 | c.7041C>A (p.Cys2347Ter) c.7059C>A (p.Cys2353Ter) c.6963C>A (p.Cys2321Ter) c.7086C>A (p.Cys2362Ter) n.2304C>A n.7796C>A c.*5019C>A (n.*5019C>A) n.729C>A c.579C>A (p.Cys193Ter) c.5532C>A (p.Cys1844Ter) c.4716C>A (p.Cys1572Ter) c.4623C>A (p.Cys1541Ter) c.5550C>A (p.Cys1850Ter) c.4734C>A (p.Cys1578Ter) c.4641C>A (p.Cys1547Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |