| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36234105C>T | CA340503 | CLTA,GNE | c.890G>A (p.Arg297Gln) c.620G>A (p.Arg207Gln) c.797G>A (p.Arg266Gln) c.486-29093C>T (n.486-29093C>T) c.467G>A (p.Arg156Gln) c.782G>A (p.Arg261Gln) c.737G>A (p.Arg246Gln) c.644G>A (p.Arg215Gln) | ClinVar dbSNP |
| 9 | g.36234105C= | CA1846355721 | CLTA,GNE | c.890G= (p.Arg297=) c.620G= (p.Arg207=) c.797G= (p.Arg266=) c.486-29093C= (n.486-29093C=) c.467G= (p.Arg156=) c.782G= (p.Arg261=) c.737G= (p.Arg246=) c.644G= (p.Arg215=) | dbSNP |