| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36234046G>A | CA16041319 | CLTA,GNE | c.949C>T (p.Gln317Ter) c.679C>T (p.Gln227Ter) c.856C>T (p.Gln286Ter) c.486-29152G>A (n.486-29152G>A) c.526C>T (p.Gln176Ter) c.841C>T (p.Gln281Ter) c.796C>T (p.Gln266Ter) c.703C>T (p.Gln235Ter) | ClinVar dbSNP |
| 9 | g.36234046G= | CA1846355596 | CLTA,GNE | c.949C= (p.Gln317=) c.679C= (p.Gln227=) c.856C= (p.Gln286=) c.486-29152G= (n.486-29152G=) c.526C= (p.Gln176=) c.841C= (p.Gln281=) c.796C= (p.Gln266=) c.703C= (p.Gln235=) | dbSNP |