| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67783217G>T | CA357985 | ZFYVE26 | c.3935C>A (p.Ser1312Ter) n.4072C>A c.*2232C>A (n.*2232C>A) c.2426C>A (p.Ser809Ter) c.1610C>A (p.Ser537Ter) c.1517C>A (p.Ser506Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.67783217G>C | CA390171181 | ZFYVE26 | c.3935C>G (p.Ser1312Ter) n.4072C>G c.*2232C>G (n.*2232C>G) c.2426C>G (p.Ser809Ter) c.1610C>G (p.Ser537Ter) c.1517C>G (p.Ser506Ter) | dbSNP gnomAD v4 |
| 14 | g.67783217G= | CA2144027805 | ZFYVE26 | c.3935C= (p.Ser1312=) n.4072C= c.*2232C= (n.*2232C=) c.2426C= (p.Ser809=) c.1610C= (p.Ser537=) c.1517C= (p.Ser506=) | dbSNP |