| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67797750G>A | CA16042934 | ZFYVE26 | c.2254C>T (p.Gln752Ter) c.2050C>T (p.Gln684Ter) c.*1249C>T (n.*1249C>T) n.2391C>T c.*551C>T (n.*551C>T) n.2300C>T n.2389C>T c.745C>T (p.Gln249Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.67797750G= | CA2144034030 | ZFYVE26 | c.2254C= (p.Gln752=) c.2050C= (p.Gln684=) c.*1249C= (n.*1249C=) n.2391C= c.*551C= (n.*551C=) n.2300C= n.2389C= c.745C= (p.Gln249=) | dbSNP |