| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246436T>A | CA10606885 | CLTA,GNE | c.304A>T (p.Arg102Trp) c.34A>T (p.Arg12Trp) c.211A>T (p.Arg71Trp) c.486-16762T>A (n.486-16762T>A) c.196A>T (p.Arg66Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36246436T= | CA1846321130 | CLTA,GNE | c.304A= (p.Arg102=) c.34A= (p.Arg12=) c.211A= (p.Arg71=) c.486-16762T= (n.486-16762T=) c.196A= (p.Arg66=) | dbSNP |