| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151856337T>C | CA257409 | GLRA1 | c.523A>G (p.Met175Val) c.*281A>G (n.*281A>G) n.806A>G c.274A>G (p.Met92Val) n.42-1369T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151856337T= | CA1591580729 | GLRA1 | c.523A= (p.Met175=) c.*281A= (n.*281A=) n.806A= c.274A= (p.Met92=) n.42-1369T= | dbSNP |