| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246136T>C | CA253719 | CLTA,GNE | c.604A>G (p.Met202Val) c.334A>G (p.Met112Val) c.511A>G (p.Met171Val) c.486-17062T>C (n.486-17062T>C) c.496A>G (p.Met166Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36246136T= | CA1846375255 | CLTA,GNE | c.604A= (p.Met202=) c.334A= (p.Met112=) c.511A= (p.Met171=) c.486-17062T= (n.486-17062T=) c.496A= (p.Met166=) | dbSNP |