| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67782971C>T | CA250411 | ZFYVE26 | c.4181G>A (p.Trp1394Ter) n.4318G>A c.*2350+128G>A (n.*2350+128G>A) c.2672G>A (p.Trp891Ter) c.1856G>A (p.Trp619Ter) c.1763G>A (p.Trp588Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782971C= | CA2144027704 | ZFYVE26 | c.4181G= (p.Trp1394=) n.4318G= c.*2350+128G= (n.*2350+128G=) c.2672G= (p.Trp891=) c.1856G= (p.Trp619=) c.1763G= (p.Trp588=) | dbSNP |