| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.170813419A>C | CA11952670 | GABRP | c.*1161A>C (n.*1161A>C) c.*1426A>C (n.*1426A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.170813419A= | CA1600540394 | GABRP | c.*1161A= (n.*1161A=) c.*1426A= (n.*1426A=) | dbSNP |