| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161895693C>T | CA314680 | GABRA1 | c.884C>T (p.Thr295Ile) n.2485C>T c.*733C>T (n.*733C>T) n.688C>T c.*658C>T (n.*658C>T) c.929C>T (p.Thr310Ile) | ClinVar dbSNP |
| 5 | g.161895693C= | CA1596258137 | GABRA1 | c.884C= (p.Thr295=) n.2485C= c.*733C= (n.*733C=) n.688C= c.*658C= (n.*658C=) c.929C= (p.Thr310=) | dbSNP |