| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246261C>T | CA274432 | CLTA,GNE | c.479G>A (p.Arg160Gln) c.209G>A (p.Arg70Gln) c.386G>A (p.Arg129Gln) c.486-16937C>T (n.486-16937C>T) c.371G>A (p.Arg124Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36246261C= | CA1846320870 | CLTA,GNE | c.479G= (p.Arg160=) c.209G= (p.Arg70=) c.386G= (p.Arg129=) c.486-16937C= (n.486-16937C=) c.371G= (p.Arg124=) | dbSNP |