| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67782840G>A | CA114476 | ZFYVE26 | c.4312C>T (p.Arg1438Ter) n.4449C>T c.*2350+259C>T (n.*2350+259C>T) c.2803C>T (p.Arg935Ter) c.1987C>T (p.Arg663Ter) c.1894C>T (p.Arg632Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782840G>T | CA486970543 | ZFYVE26 | c.4312C>A (p.Arg1438=) n.4449C>A c.*2350+259C>A (n.*2350+259C>A) c.2803C>A (p.Arg935=) c.1987C>A (p.Arg663=) c.1894C>A (p.Arg632=) | ClinVar dbSNP |
| 14 | g.67782840G= | CA2144027645 | ZFYVE26 | c.4312C= (p.Arg1438=) n.4449C= c.*2350+259C= (n.*2350+259C=) c.2803C= (p.Arg935=) c.1987C= (p.Arg663=) c.1894C= (p.Arg632=) | dbSNP |
| 14 | g.67782840G>C | CA390170159 | ZFYVE26 | c.4312C>G (p.Arg1438Gly) n.4449C>G c.*2350+259C>G (n.*2350+259C>G) c.2803C>G (p.Arg935Gly) c.1987C>G (p.Arg663Gly) c.1894C>G (p.Arg632Gly) | dbSNP |