| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151859973C>A | CA356534 | GLRA1 | c.288G>T (p.Trp96Cys) c.*46G>T (n.*46G>T) n.571G>T c.39G>T (p.Trp13Cys) n.229+2080C>A | ClinVar dbSNP |
| 5 | g.151859973C= | CA1591582310 | GLRA1 | c.288G= (p.Trp96=) c.*46G= (n.*46G=) n.571G= c.39G= (p.Trp13=) n.229+2080C= | dbSNP |