| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36233986G>A | CA16041318 | CLTA,GNE | c.1009C>T (p.Arg337Ter) c.739C>T (p.Arg247Ter) c.916C>T (p.Arg306Ter) c.486-29212G>A (n.486-29212G>A) c.586C>T (p.Arg196Ter) c.901C>T (p.Arg301Ter) c.856C>T (p.Arg286Ter) c.763C>T (p.Arg255Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36233986G= | CA1846355452 | CLTA,GNE | c.1009C= (p.Arg337=) c.739C= (p.Arg247=) c.916C= (p.Arg306=) c.486-29212G= (n.486-29212G=) c.586C= (p.Arg196=) c.901C= (p.Arg301=) c.856C= (p.Arg286=) c.763C= (p.Arg255=) | dbSNP |