| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151924514C>G | CA361899973 | GLRA1 | c.36G>C (p.Trp12Cys) n.319G>C c.-86G>C (n.-86G>C) | ClinVar dbSNP |
| 5 | g.151924514C>T | CA16621830 | GLRA1 | c.36G>A (p.Trp12Ter) n.319G>A c.-86G>A (n.-86G>A) | ClinVar dbSNP gnomAD v4 |